NCRV0000000001 26178671 let-7 rs712 T N/A 503 metabolic syndrome patients and 529 normal controls in a Chinese population EFO_0000195 N/A no significance for risk metabolic syndrome rs712-T of hsa-let-7a-1 and its dysfunction is not significantly associated with Metabolic syndrome by using case-control analysis in 503 metabolic syndrome patients and 529 normal controls in a Chinese population -0.4 Let-7 related genetic variation and risk of metabolic syndrome in a Chinese population. case-control analysis hsa-let-7a-1 miRNA Metabolic syndrome -0.33 ACTGGCACTT(A > C)GAGGAAAAAA chr12: 25209618 0.4794,0.5206 0.53632294852191641,0.46367705147808358 Region score:0.51; TSS score:0.88; Unmatched score:0.78; Average GERP:4.361722772277226 GeneName:AC092794.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000274987; TranscriptID:ENST00000612734; AnnoType:UPSTREAM; mirSVR-Score:-0.7052; mirSVR-E:-13.57 | GeneName:ETFRF1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000205707; TranscriptID:ENST00000381356; AnnoType:DOWNSTREAM; mirSVR-Score:-0.7052; mirSVR-E:-13.57 | GeneName:KRAS; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000133703; TranscriptID:ENST00000256078; AnnoType:3PRIME_UTR; mirSVR-Score:-0.7052; mirSVR-E:-13.57 | NCRV0000000002 28159929 PRNCR1 rs16901946 G Recessive Several case-control studies EFO_0000311 N/A No significance for risk Cancer rs16901946-G of PRNCR1 and its dysfunction is not significantly associated with cancer by using meta-analysis in several case-control studies. -0.4 The HOTAIR, PRNCR1 and POLR2E polymorphisms are associated with cancer risk: a meta-analysis. meta-analysis PRNCR1 lncRNA Cancer -0.33 CCTTCTTTTC(A > G)GGATTGAATT chr8: 127088680 0.9189,0.08107 0.97291507390417940,0.02708492609582059 Region score:0.35; TSS score:0.42; Unmatched score:0.39; Average GERP:-0.8881174257425748 GeneName:AC020688.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000224722; TranscriptID:ENST00000519282; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CASC19; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000254166; TranscriptID:ENST00000642100; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PCAT1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000253438; TranscriptID:ENST00000646670; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PRNCR1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000282961; TranscriptID:ENST00000635449; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000003 28928442 NONHSAT183642.1 rs150237096 ? N/A 6,812 european ancestry cases//113,837 european ancestry controls EFO_0008409 N/A Associate Scarlet fever rs150237096-? of NONHSAT183642.1 is significantly associated with the scarlet fever by using GWAS analysis in 6,812 european ancestry cases//113,837 european ancestry controls(p-value = 5E-6 ;OR = 0.3501). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. genome-wide association analysis NONHSAT183642.1 lncRNA Susceptibility to scarlet fever measurement 0.33 TACATTGTTT(A > G)CTAAAAATGC chr2: 222354051 0.9954,0.004593 0.98854007390417940,0.01145992609582059 Region score:0.33; TSS score:0.17; Unmatched score:0.13; Average GERP:0.4269450000000001 GeneName:AC010980.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000237732; TranscriptID:ENST00000589724; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000637876; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000004 27863252 NONHSAT004977.2 rs663045 C N/A 170,702 european ancestry individuals EFO_0004833 N/A Associate Neutrophil count rs663045-C of NONHSAT004977.2 is significantly associated with the neutrophil count by using GWAS analysis in 170,702 european ancestry individuals(p-value = 7E-11 ;OR = 0.02342686). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT004977.2 lncRNA Neutrophil count 0.33 GAGGGAGCTG(G > C)GAGCTGGGTC chr1: 108200437 0.4187,0.5813 0.45580880479102956,0.54419119520897043 Region score:0.42; TSS score:0.43; Unmatched score:0.98; Average GERP:-2.1942909900990104 GeneName:AL359258.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000260879; TranscriptID:ENST00000564063; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AL359258.3; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000280186; TranscriptID:ENST00000622910; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000010962; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000367943; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SLC25A24; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000085491; TranscriptID:ENST00000565488; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000005 22661538 mir373 rs12983273 ? N/A 1,097 patients with CRC EFO_0005842 N/A no significance for risk colorectal cancer rs12983273-? of hsa-mir-373 and its dysfunction is not significantly associated with Colorectal cancer by using analysis of sequence variation in 1,097 patients with CRC -0.4 Genetic polymorphisms in MicroRNA-related genes as predictors of clinical outcomes in colorectal adenocarcinoma patients. analysis of sequence variation hsa-mir-373 miRNA Colorectal cancer -0.33 TGATATGTAA(C > T)TTTCCTCTTC chr19: 53788578 0.8444,0.1556 0.85497897553516819,0.14502102446483180 Region score:0.4; TSS score:0.27; Unmatched score:0.35; Average GERP:0.09324752475247536 GeneName:AC008753.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000269564; TranscriptID:ENST00000597420; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC008753.3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000269877; TranscriptID:ENST00000595160; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR371A; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000199031; TranscriptID:ENST00000362161; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR371B; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284568; TranscriptID:ENST00000638082; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR372; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000199095; TranscriptID:ENST00000362225; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR373; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000199143; TranscriptID:ENST00000362273; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000593522; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000006 21793975 miR-548d-2 hsa-mir-548d-2 Deletion - Dominant 48 medulloblastomas EFO_0002939 N/A Increasing risk Medulloblastomas Deletion of miR-548d-2 and its dysfunction is significantly associated with the increasing risk of medulloblastomas by using analysis of sequence variation in 48 medulloblastomas. 0.4 Genetic alterations in microRNAs in medulloblastomas. analysis of sequence variation; Function hsa-mir-548d-2 miRNA Medulloblastoma 0.33 N/A N/A N/A N/A N/A N/A NCRV0000000007 27989323 NONHSAT222126.1 rs144160960 C N/A 8,270 finnish ancestry individuals EFO_0005140 N/A Associate Interleukin-12p70 levels rs144160960-C of NONHSAT222126.1 is significantly associated with the interleukin-12p70 levels by using GWAS analysis in 8,270 finnish ancestry individuals(p-value = 7E-6 ;OR = 0.246). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. genome-wide association analysis NONHSAT222126.1 lncRNA Autoimmune disease 0.33 TAGGTGTGAG(C > A)CACTGCACCC chr9: 107259206 0.994,0.00599 0.98806224515800203,0.01193775484199796 Region score:0.37; TSS score:0.11; Unmatched score:0; Average GERP:0.08315000000000002 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000008 29495389 miR-146a-3p rs2910164 C Recessive 2441 patients (2163 women; 278 men); including 359 cases with follicular variant of papillary thyroid carcinoma (fvptc) EFO_1000261 N/A Poor prognosis Follicular variant papillary thyroid carcinoma rs2910164-C of miR-146a-3p and its dysfunction is significantly associated with the poor prognosis of Follicular Variant Papillary Thyroid Carcinoma by using case-control analysis in 2441 patients (2163 women; 278 men); including 359 cases with follicular variant of papillary thyroid carcinoma (fvPTC). By using the disease cell lines or tissues, the interference and mutation of miR-146a-3p has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 The rs2910164 Genetic Variant of miR-146a-3p Is Associated with Increased Overall Mortality in Patients with Follicular Variant Papillary Thyroid Carcinoma.LID - E655 [pii]LID - 10.3390/ijms19030655 [doi]AB - Aberrant expression of the sodium-i case-control analysis; Function hsa-mir-146a miRNA Follicular variant thyroid gland papillary cancer 0.593 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 N/A 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000009 19553259 NONHSAT158283.1 rs10999409 T N/A 775 european ancestry cases//3,197 european ancestry controls EFO_0001073 N/A Associate Obesity (extreme) rs10999409-T of NONHSAT158283.1 is significantly associated with the obesity (extreme) by using GWAS analysis in 775 european ancestry cases//3,197 european ancestry controls(p-value = 5E-6 ;OR = 1.3). 0.4 Common body mass index-associated variants confer risk of extreme obesity. genome-wide association analysis NONHSAT158283.1 lncRNA Obesity 0.33 TAAATCACAC(T > A,C)GCCTCTCTGA chr10: 70572684 0.5174,.,0.4826 0.52022011977573904,0.00019909531090723,0.47958078491335372 Region score:0.27; TSS score:0.32; Unmatched score:0.11; Average GERP:-0.5108851485148517 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000407063; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PALD1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000107719; TranscriptID:ENST00000263563; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000010 28166213 NONHSAT119105.2 rs10246303 T N/A 48,943 european ancestry individuals; 57,176 european ancestry individuals//38,199 individuals. EFO_0000341 N/A Associate Lung function (fev1/fvc) rs10246303-T of NONHSAT119105.2 is significantly associated with the lung function (fev1/fvc) by using GWAS analysis in 48,943 european ancestry individuals; 57,176 european ancestry individuals//38,199 individuals.(p-value = 2E-8 ;OR = 0.022). 0.4 Genome-wide association analyses for lung function and chronic obstructive pulmonary disease identify new loci and potential druggable targets. genome-wide association analysis NONHSAT119105.2 lncRNA Chronic obstructive pulmonary disease 0.33 ATTACTGCCC(A > C,T)ATTACTAAGA chr7: 7246814 0.2863,.,0.7137 0.39913035168195718,0.00001592762487257,0.60085372069317023 Region score:0.39; TSS score:0.61; Unmatched score:0.59; Average GERP:0.44123762376237613 GeneName:C1GALT1; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000106392; TranscriptID:ENST00000436587; AnnoType:3PRIME_UTR; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000011 25866641 NONHSAT208684.1 rs1573948 ? N/A 171 european ancestry cases EFO_1000657 N/A Associate Survival in rectal cancer rs1573948-? of NONHSAT208684.1 is significantly associated with the survival in rectal cancer by using GWAS analysis in 171 european ancestry cases(p-value = 4E-6 ;OR = 2.71). 0.4 A genome wide association study on Newfoundland colorectal cancer patients' survival outcomes. genome-wide association analysis NONHSAT208684.1 lncRNA Rectum cancer 0.33 ATAGACTAAA(T > C)GGTCCTGGAA chr6: 6786192 0.9012,0.09884 0.91071769877675840,0.08928230122324159 Region score:0.28; TSS score:0.21; Unmatched score:0.11; Average GERP:0.16519891089108907 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000782153; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000012 27863252 NONHSAT162151.1 rs733592 T N/A 164,339 european ancestry individuals EFO_0007985 N/A Associate Plateletcrit rs733592-T of NONHSAT162151.1 is significantly associated with the plateletcrit by using GWAS analysis in 164,339 european ancestry individuals(p-value = 5E-9 ;OR = 0.02221088). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT162151.1 lncRNA Plateletcrit 0.33 GACCAAAGGA(C > T)AGGCCCATAG chr12: 48035993 0.4491,0.5509 0.55450433231396534,0.44549566768603465 Region score:0.26; TSS score:0.41; Unmatched score:0.15; Average GERP:-0.16200693069306926 GeneName:AC004801.6; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000276814; TranscriptID:ENST00000616571; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000013 27863252 NONHSAT175429.1 rs56378716 G N/A 170,702 european ancestry individuals EFO_0004833 N/A Associate Neutrophil count rs56378716-G of NONHSAT175429.1 is significantly associated with the neutrophil count by using GWAS analysis in 170,702 european ancestry individuals(p-value = 2E-18 ;OR = 0.1400379). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT175429.1 lncRNA Neutrophil count 0.33 TTGCATGAAC(A > G)TGAGTGAGCG chr17: 58279141 0.9952,0.004792 0.99255383537206931,0.00744616462793068 Region score:0.5; TSS score:0.49; Unmatched score:0.76; Average GERP:2.4658316831683167 GeneName:MPO; CADD-Score:7; Consquence:missense; GeneID:ENSG00000005381; TranscriptID:ENST00000225275; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000559774; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000014 23563607 NONHSAT186578.1 rs10189761 A N/A 93,015 european ancestry overweight individuals//32,858 european ancestry class i obese individuals//9,889 european ancestry class ii obese individuals//2,896 european ancestry class iii obese individuals//up to 65,840 european ancestry controls; 65,332 european ancestry overweight individuals//22,373 european ancestry class i obese individuals//5,476 european ancestry class ii obese individuals//1,162 european ancestry class iii obese individuals//up to 39,294 european ancestry controls EFO_0001073 N/A Associate Obesity rs10189761-A of NONHSAT186578.1 is significantly associated with the obesity by using GWAS analysis in 93,015 european ancestry overweight individuals//32,858 european ancestry class i obese individuals//9,889 european ancestry class ii obese individuals//2,896 european ancestry class iii obese individuals//up to 65,840 european ancestry controls; 65,332 european ancestry overweight individuals//22,373 european ancestry class i obese individuals//5,476 european ancestry class ii obese individuals//1,162 european ancestry class iii obese individuals//up to 39,294 european ancestry controls(p-value = 6E-24 ;OR = 1.24). 0.4 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. genome-wide association analysis NONHSAT186578.1 lncRNA Obesity 0.33 TAGAACTACC(T > A)GAGATAAAAA chr2: 646364 0.155,0.845 0.18083428899082568,0.81916571100917431 Region score:0.33; TSS score:0.29; Unmatched score:0.05; Average GERP:-1.0074405940594058 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000015 22778062 SNORD111 rs78746133 G N/A N/A function N/A not significant changes in the structure function rs78746133-G of SNORD111 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in nan -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD111 snoRNA function -0.049 TTTCTCTGGA(C > G)ACAGTTTTTG chr16: 70538066 0.9645,0.03554 0.96652013251783893,0.03347986748216106 Region score:0.47; TSS score:0.36; Unmatched score:0.58; Average GERP:2.384938775510205 GeneName:SF3B3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000189091; TranscriptID:ENST00000302516; AnnoType:INTRONIC; mirSVR-Score:-0.9975; mirSVR-E:-15.03 | GeneName:SNORD111; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000221066; TranscriptID:ENST00000408139; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.9975; mirSVR-E:-15.03 | NCRV0000000016 22610502 NONHSAT192288.1 rs738968 C N/A up to 512 european ancestry individuals//up to 199 african american individuals EFO_0004645 N/A Associate Immune reponse to smallpox (secreted tnf-alpha) rs738968-C of NONHSAT192288.1 is significantly associated with the immune reponse to smallpox (secreted tnf-alpha) by using GWAS analysis in up to 512 european ancestry individuals//up to 199 african american individuals(p-value = 8E-8 ;OR = ?). 0.4 Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. genome-wide association analysis NONHSAT192288.1 lncRNA Response to vaccine 0.33 ACAGAAGTCA(T > G)GATAGAGAAC chr22: 34493105 0.9241,0.07588 0.89506880733944954,0.10493119266055045 Region score:0.28; TSS score:0.21; Unmatched score:0.06; Average GERP:-0.47765247524752447 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000017 19011631 NONHSAT168447.1 rs4444235 C N/A 1,902 european ancestry cases//1,929 european ancestry controls; 18,284 european ancestry cases//18,926 european ancestry controls EFO_0005842 N/A Associate Colorectal cancer rs4444235-C of NONHSAT168447.1 is significantly associated with the colorectal cancer by using GWAS analysis in 1,902 european ancestry cases//1,929 european ancestry controls; 18,284 european ancestry cases//18,926 european ancestry controls(p-value = 8E-10 ;OR = 1.11). 0.4 Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer. genome-wide association analysis NONHSAT168447.1 lncRNA Colorectal cancer 0.451 CCTGATACTA(T > C)GTCCAGGCAG chr14: 53944201 0.5679,0.4321 0.56929313200815494,0.43070686799184505 Region score:0.29; TSS score:0.41; Unmatched score:0.34; Average GERP:0.3169702970297027 GeneName:MIR5580; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000266431; TranscriptID:ENST00000580850; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000017 26151821 NONHSAT168447.1 rs4444235 C N/A 18,299 european ancestry cases//19,656 european ancestry controls; 4,725 east asian ancestry cases//9,969 east asian ancestry controls EFO_0005842 N/A Associate Colorectal cancer rs4444235-C of NONHSAT168447.1 is significantly associated with the colorectal cancer by using GWAS analysis in 18,299 european ancestry cases//19,656 european ancestry controls; 4,725 east asian ancestry cases//9,969 east asian ancestry controls(p-value = 5E-8 ;OR = 1.0869565). 0.4 Genome-wide association study of colorectal cancer identifies six new susceptibility loci. genome-wide association analysis NONHSAT168447.1 lncRNA Colorectal cancer 0.451 CCTGATACTA(T > C)GTCCAGGCAG chr14: 53944201 0.5679,0.4321 0.56929313200815494,0.43070686799184505 Region score:0.29; TSS score:0.41; Unmatched score:0.34; Average GERP:0.3169702970297027 GeneName:MIR5580; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000266431; TranscriptID:ENST00000580850; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000018 25282103 NONHSAT202867.1 rs6894139 T N/A 253,288 european ancestry individuals; 80,067 european ancestry individuals EFO_0004339 N/A Associate Height rs6894139-T of NONHSAT202867.1 is significantly associated with the height by using GWAS analysis in 253,288 european ancestry individuals; 80,067 european ancestry individuals(p-value = 6E-24 ;OR = 0.03). 0.4 Defining the role of common variation in the genomic and biological architecture of adult human height. genome-wide association analysis NONHSAT202867.1 lncRNA Body height 0.33 ATTTTTCTAG(T > G)ATTATTAAAT chr5: 89031965 0.4127,0.5873 0.42029020132517838,0.57970979867482161 Region score:0.35; TSS score:0.34; Unmatched score:0.35; Average GERP:0.6237425742574255 GeneName:MEF2C-AS1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000248309; TranscriptID:ENST00000511100; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000019 26965164 NONHSAT006319.2 rs12045807 C N/A 592 european ancestry cases//2,676 european ancestry controls; 367 european ancestry cases//5,159 european ancestry controls EFO_0005938 N/A Associate Congenital left-sided heart lesions rs12045807-C of NONHSAT006319.2 is significantly associated with the congenital left-sided heart lesions by using GWAS analysis in 592 european ancestry cases//2,676 european ancestry controls; 367 european ancestry cases//5,159 european ancestry controls(p-value = 9E-7 ;OR = 1.61). 0.4 A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20. genome-wide association analysis NONHSAT006319.2 lncRNA Congenital left-sided heart lesions 0.33 TAAGAATAGA(T > C)ACTGCCATGA chr1: 150612358 0.8093,0.1907 0.81361493374108053,0.18638506625891946 Region score:0.37; TSS score:0.31; Unmatched score:0.4; Average GERP:-0.5840158415841586 GeneName:ENSA; CADD-Score:2; Consquence:intron; GeneID:ENSG00000143420; TranscriptID:ENST00000369016; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000372432; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF00015; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000276103; TranscriptID:ENST00000620626; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000020 21897333 NONHSAT192186.1 rs4417 A N/A 192 european ancestry male cases EFO_0000180 N/A Associate Fat distribution (hiv) rs4417-A of NONHSAT192186.1 is significantly associated with the fat distribution (hiv) by using GWAS analysis in 192 european ancestry male cases(p-value = 5E-6 ;OR = ?). 0.4 Genes linked to energy metabolism and immunoregulatory mechanisms are associated with subcutaneous adipose tissue distribution in HIV-infected men. genome-wide association analysis NONHSAT192186.1 lncRNA Hiv-1 infection 0.33 GGGGTGTAGC(T > C)GGCCACCTGG chr22: 27020862 0.1801,0.8199 0.14363532110091743,0.85636467889908256 Region score:0.41; TSS score:0.35; Unmatched score:0.24; Average GERP:-1.231707920792079 GeneName:AL008638.3; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000279440; TranscriptID:ENST00000623027; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000021 23128233 NONHSAT203343.1 rs6863411 T N/A 12,924 european ancestry cases//21,442 european ancestry controls; 25,683 european ancestry cases//17,015 european ancestry controls EFO_0003767 N/A Associate Inflammatory bowel disease rs6863411-T of NONHSAT203343.1 is significantly associated with the inflammatory bowel disease by using GWAS analysis in 12,924 european ancestry cases//21,442 european ancestry controls; 25,683 european ancestry cases//17,015 european ancestry controls(p-value = 4E-14 ;OR = 1.089). 0.4 Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. genome-wide association analysis NONHSAT203343.1 lncRNA Inflammatory bowel disease 0.451 CTGATTAATC(A > T)CATAACTCTT chr5: 142133639 0.3337,0.6663 0.32366526503567787,0.67633473496432212 Region score:0.38; TSS score:0.2; Unmatched score:0.22; Average GERP:0.19251485148514857 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000187964; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NDFIP1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000131507; TranscriptID:ENST00000253814; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000021 28067908 NONHSAT203343.1 rs6863411 ? N/A 25,042 european and unknown ancestry cases//34,915 european and unknown ancestry controls EFO_0003767 N/A Associate Inflammatory bowel disease rs6863411-? of NONHSAT203343.1 is significantly associated with the inflammatory bowel disease by using GWAS analysis in 25,042 european and unknown ancestry cases//34,915 european and unknown ancestry controls(p-value = 5E-10 ;OR = ?). 0.4 Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease. genome-wide association analysis NONHSAT203343.1 lncRNA Inflammatory bowel disease 0.451 CTGATTAATC(A > T)CATAACTCTT chr5: 142133639 0.3337,0.6663 0.32366526503567787,0.67633473496432212 Region score:0.38; TSS score:0.2; Unmatched score:0.22; Average GERP:0.19251485148514857 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000187964; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NDFIP1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000131507; TranscriptID:ENST00000253814; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000022 24700052 miR-499 rs3746444 G N/A All the 200 patients with RM reported to experience at least 3 unexplained miscarriages before 20th week of gestation. Three hundred fertile women with no history of RMs were taken as controls. EFO_1000954 N/A increasing risk habitual abortion rs3746444-G of hsa-mir-499a and its dysfunction is significantly associated with the increasing risk of Habitual abortion by using analysis of sequence variation in All the 200 patients with RM reported to experience at least 3 unexplained miscarriages before 20th week of gestation. Three hundred fertile women with no history of RMs were taken as controls. 0.4 Recurrent miscarriage and micro-RNA among north Indian women. analysis of sequence variation hsa-mir-499a miRNA Habitual abortion 0.451 CCACGTGAAC(A > G)TCACAGCAAG chr20: 34990448 0.8165,0.1835 0.81708715596330275,0.18291284403669724 Region score:0.79; TSS score:0.85; Unmatched score:0.95; Average GERP:3.757564356435645 GeneName:MIR499A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207635; TranscriptID:ENST00000384903; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR499B; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283441; TranscriptID:ENST00000636498; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYH7B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000078814; TranscriptID:ENST00000262873; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000022 28012790 miR-499a rs3746444 C N/a 200 rpl couples and 400 healthy men EFO_1000954 N/A Decreasing risk Recurrent pregnancy loss in female rs3746444-C of miR-499a and its dysfunction is significantly associated with the decreasing risk of recurrent pregnancy loss in female by using case-control analysis in 200 RPL couples and 400 healthy men. 0.4 The role of parental microRNA alleles in recurrent pregnancy loss: an association study. case-control analysis hsa-mir-499a miRNA Habitual abortion 0.451 CCACGTGAAC(A > G)TCACAGCAAG chr20: 34990448 0.8165,0.1835 0.81708715596330275,0.18291284403669724 Region score:0.79; TSS score:0.85; Unmatched score:0.95; Average GERP:3.757564356435645 GeneName:MIR499A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207635; TranscriptID:ENST00000384903; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR499B; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283441; TranscriptID:ENST00000636498; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYH7B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000078814; TranscriptID:ENST00000262873; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000023 27863252 NONHSAT191585.1 rs741951 A N/A 172,433 european ancestry individuals EFO_0004526 N/A Associate Mean corpuscular volume rs741951-A of NONHSAT191585.1 is significantly associated with the mean corpuscular volume by using GWAS analysis in 172,433 european ancestry individuals(p-value = 2E-22 ;OR = 0.04827801). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT191585.1 lncRNA Mean corpuscular volume 0.33 GTAGTAAACC(G > A)TTTTATTGGA chr21: 44849611 0.8812,0.1188 0.86422496177370030,0.13577503822629969 Region score:0.33; TSS score:0.72; Unmatched score:0.63; Average GERP:-0.4099336633663366 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000664814; AnnoType:REGULATORY; mirSVR-Score:-1.1015; mirSVR-E:-8.96 | GeneName:PTTG1IP; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000183255; TranscriptID:ENST00000330938; AnnoType:3PRIME_UTR; mirSVR-Score:-1.1015; mirSVR-E:-8.96 | NCRV0000000024 22560479 NONHSAT150873.1 rs4658627 A N/A 573 european ancestry children; 107 european ancestry children//591 hispanic children//233 children EFO_0004591 N/A Associate Asthma (childhood onset) rs4658627-A of NONHSAT150873.1 is significantly associated with the asthma (childhood onset) by using GWAS analysis in 573 european ancestry children; 107 european ancestry children//591 hispanic children//233 children(p-value = 6E-6 ;OR = 0.13). 0.4 Genome-wide association study of the age of onset of childhood asthma. genome-wide association analysis NONHSAT150873.1 lncRNA Childhood onset asthma 0.33 GGTGAAACTA(G > A)GTTGAAGGTA chr1: 244347874 0.8137,0.1863 0.76470119775739041,0.23529880224260958 Region score:0.35; TSS score:0.34; Unmatched score:0.28; Average GERP:-0.3418843564356437 GeneName:C1orf100; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000173728; TranscriptID:ENST00000308105; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000025 27182965 NONHSAT221727.1 rs10156578 ? N/A 53,109 european ancestry cases//230,876 european ancestry controls EFO_0003821 N/A Associate Migraine rs10156578-? of NONHSAT221727.1 is significantly associated with the migraine by using GWAS analysis in 53,109 european ancestry cases//230,876 european ancestry controls(p-value = 2E-8 ;OR = 1.0449321). 0.4 Detection and interpretation of shared genetic influences on 42 human traits. genome-wide association analysis NONHSAT221727.1 lncRNA Migraine disorder 0.33 AAAGTTTAAC(C > A,G,T)TATGGCTCTC chr9: 29372503 0.5485,.,0.4515,. 0.47520068807339449,0.00002389143730886,0.52460021661569826,0.00017520387359836 Region score:0.5; TSS score:0.37; Unmatched score:0.05; Average GERP:-0.3573551485148515 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000026 22504420 NONHSAT153491.1 rs6426749 C N/A up to 32,961 european and east asian ancestry individuals; up to 50,933 european and east asian ancestry individuals EFO_0003923 N/A Associate Bone mineral density rs6426749-C of NONHSAT153491.1 is significantly associated with the bone mineral density by using GWAS analysis in up to 32,961 european and east asian ancestry individuals; up to 50,933 european and east asian ancestry individuals(p-value = 7E-57 ;OR = 0.11). 0.4 Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. genome-wide association analysis NONHSAT153491.1 lncRNA Bone density 0.33 GGCTGCTGAG(G > C)TCCAGGCCAA chr1: 22384980 0.7853,0.2147 0.79774305555555555,0.20225694444444444 Region score:0.42; TSS score:0.3; Unmatched score:0.08; Average GERP:-1.058940594059406 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000027 27863252 NONHSAT173445.1 rs12447180 C N/A 170,223 european ancestry individuals EFO_0007995 N/A Associate Basophil percentage of granulocytes rs12447180-C of NONHSAT173445.1 is significantly associated with the basophil percentage of granulocytes by using GWAS analysis in 170,223 european ancestry individuals(p-value = 2E-12 ;OR = 0.02636175). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT173445.1 lncRNA Basophil percentage of granulocytes 0.33 ATATATGGGC(T > C)CATAGAAATA chr16: 88451314 0.5673,0.4327 0.62097827471967380,0.37902172528032619 Region score:0.38; TSS score:0.57; Unmatched score:0.59; Average GERP:-0.5975950495049506 GeneName:ZFPM1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000179588; TranscriptID:ENST00000319555; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000028 24861553 NONHSAT186567.1 rs4854307 C N/A 82,438 east asian ancestry individuals//4,301 south east asian ancestry individuals; up to 47,352 east asian ancestry individuals EFO_0001073 N/A Associate Body mass index rs4854307-C of NONHSAT186567.1 is significantly associated with the body mass index by using GWAS analysis in 82,438 east asian ancestry individuals//4,301 south east asian ancestry individuals; up to 47,352 east asian ancestry individuals(p-value = 2E-6 ;OR = 0.0263). 0.4 Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index. genome-wide association analysis NONHSAT186567.1 lncRNA Obesity 0.33 GCCTCCAGGC(T > C)GCCCACAATC chr2: 443281 0.8163,0.1837 0.86839799949031600,0.13160200050968399 Region score:0.25; TSS score:0.25; Unmatched score:0.23; Average GERP:-0.19101980198019822 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000029 23251661 NONHSAT218590.1 rs2640806 A N/A 815 hispanic children from 263 families EFO_0005134 N/A Associate Obesity-related traits rs2640806-A of NONHSAT218590.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 5E-6 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. genome-wide association analysis NONHSAT218590.1 lncRNA Amino acid measurement 0.33 CATTTCAGGA(C > A)ATCATGTTTC chr8: 96357406 0.6801,0.3199 0.59739742609582059,0.40260257390417940 Region score:0.23; TSS score:0.02; Unmatched score:0; Average GERP:0.09200257425742578 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000030 20848167 miR-499 rs3746444 G Dominant 170 uc and 403 control subjects EFO_0000729 N/A Increasing risk Ulcerative colitis rs3746444-G of miR-499 and its dysfunction is significantly associated with the increasing risk of ulcerative colitis by using case-control analysis in 170 UC and 403 control subjects. 0.4 Association study of common genetic variants in pre-microRNAs in patients with ulcerative colitis. case-control analysis hsa-mir-499a miRNA Ulcerative colitis 0.503 CCACGTGAAC(A > G)TCACAGCAAG chr20: 34990448 0.8165,0.1835 0.81708715596330275,0.18291284403669724 Region score:0.79; TSS score:0.85; Unmatched score:0.95; Average GERP:3.757564356435645 GeneName:MIR499A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207635; TranscriptID:ENST00000384903; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR499B; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283441; TranscriptID:ENST00000636498; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYH7B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000078814; TranscriptID:ENST00000262873; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000030 28301487 miR-499 rs3746444 C Recessive 197 UC patients and 441 control EFO_0000729 N/A decreasing risk ulcerative colitis rs3746444-C of hsa-mir-499a and its dysfunction is significantly associated with the decreasing risk of Ulcerative colitis by using case-control analysis in 197 UC patients and 441 control 0.9 Association of miR-196a-2 and miR-499 variants with ulcerative colitis and their correlation with expression of respective miRNAs. case-control analysis hsa-mir-499a miRNA Ulcerative colitis 0.503 CCACGTGAAC(A > G)TCACAGCAAG chr20: 34990448 0.8165,0.1835 0.81708715596330275,0.18291284403669724 Region score:0.79; TSS score:0.85; Unmatched score:0.95; Average GERP:3.757564356435645 GeneName:MIR499A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207635; TranscriptID:ENST00000384903; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR499B; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283441; TranscriptID:ENST00000636498; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYH7B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000078814; TranscriptID:ENST00000262873; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000030 27718165 MIR499 rs3746444 G N/a 207 ulcerative colitis patients, and 298 matched healthy controls EFO_0000729 N/A No significance for risk Ulcerative colitis rs3746444-G of MIR499 and its dysfunction is not significantly associated with ulcerative colitis by using case-control analysis in 207 ulcerative colitis patients, and 298 matched healthy controls. -0.4 Polymorphisms in MIR122, MIR196A2, and MIR124A Genes are Associated with Clinical Phenotypes in Inflammatory Bowel Diseases. case-control analysis hsa-mir-499a miRNA Ulcerative colitis 0.503 CCACGTGAAC(A > G)TCACAGCAAG chr20: 34990448 0.8165,0.1835 0.81708715596330275,0.18291284403669724 Region score:0.79; TSS score:0.85; Unmatched score:0.95; Average GERP:3.757564356435645 GeneName:MIR499A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207635; TranscriptID:ENST00000384903; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR499B; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283441; TranscriptID:ENST00000636498; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYH7B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000078814; TranscriptID:ENST00000262873; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000031 29071344 NONHSAT182955.1 rs115182184 G N/A 3,041 african american individuals//1,618 european ancestry individuals; 1,612 african american individuals//1,551 european ancestry individuals EFO_0003761 N/A Associate Major depression and alcohol dependence rs115182184-G of NONHSAT182955.1 is significantly associated with the major depression and alcohol dependence by using GWAS analysis in 3,041 african american individuals//1,618 european ancestry individuals; 1,612 african american individuals//1,551 european ancestry individuals(p-value = 8E-6 ;OR = 0.952). 0.4 Genetic Risk Variants Associated With Comorbid Alcohol Dependence and Major Depression. genome-wide association analysis NONHSAT182955.1 lncRNA Unipolar depression 0.33 CCTGCCCGGC(G > A,C)CTCCCGGCCC chr2: 156342049 0.9834,0.01657,. 0.98290965851172273,0.01707441386340468,0.00001592762487257 Region score:0.63; TSS score:0.67; Unmatched score:0.99; Average GERP:1.3865042574257427 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000124856; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NR4A2; CADD-Score:3; Consquence:5_prime_UTR; GeneID:ENSG00000153234; TranscriptID:ENST00000409572; AnnoType:5PRIME_UTR; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000032 20400778 NONHSAT164273.1 rs7965445 A N/A 1,645 european ancestry cases//881 european ancestry controls//281 african ancestry cases//185 african ancestry controls EFO_0003144 N/A Associate Mortality in heart failure rs7965445-A of NONHSAT164273.1 is significantly associated with the mortality in heart failure by using GWAS analysis in 1,645 european ancestry cases//881 european ancestry controls//281 african ancestry cases//185 african ancestry controls(p-value = 2E-6 ;OR = 1.3). 0.4 Genomic variation associated with mortality among adults of European and African ancestry with heart failure: the cohorts for heart and aging research in genomic epidemiology consortium. genome-wide association analysis NONHSAT164273.1 lncRNA Heart failure 0.33 GGAAGGGATC(G > A)GCTCCGCAAG chr12: 131378358 0.8379,0.1621 0.82830816768603465,0.17169183231396534 Region score:0.21; TSS score:0.3; Unmatched score:0.2; Average GERP:-0.2948514851485151 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000033 25961943 NONHSAT179794.1 rs1065853 G N/A up 62,166 european ancestry individuals EFO_0000319 N/A Associate Ldl cholesterol rs1065853-G of NONHSAT179794.1 is significantly associated with the ldl cholesterol by using GWAS analysis in up 62,166 european ancestry individuals(p-value = 5E-324 ;OR = 0.603). 0.4 The impact of low-frequency and rare variants on lipid levels. genome-wide association analysis NONHSAT179794.1 lncRNA Cardiovascular disease 0.33 TTGGGGGGGG(G > A,C,T)GGTGGTGTGT chr19: 44909976 0.9233,.,.,0.07668 0.91442883537206931,0.00006371049949031,0.00009556574923547,0.08541188837920489 N/A GeneName:AC011481.3; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000280087; TranscriptID:ENST00000623895; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:APOC1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000130208; TranscriptID:ENST00000588750; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:APOE; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000130203; TranscriptID:ENST00000252486; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000034 27182965 NONHSAT166295.1 rs146188897 ? N/A 67,023 european ancestry individuals EFO_0007843 N/A Associate Nose size rs146188897-? of NONHSAT166295.1 is significantly associated with the nose size by using GWAS analysis in 67,023 european ancestry individuals(p-value = 3E-10 ;OR = 0.03). 0.4 Detection and interpretation of shared genetic influences on 42 human traits. genome-wide association analysis NONHSAT166295.1 lncRNA Nose morphology measurement 0.33 CCTGGATGGA(A > ACCAGGCTTTGTTCC)CCAGGCTTTG chr13: 109720344 0.7764,0.2236 0.79894559123343527,0.20104644495412844 N/A GeneName:AL163541.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000285534; TranscriptID:ENST00000650264; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000490612; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000035 27863252 NONHSAT108210.2 rs1799945 G N/A 170,690 european ancestry individuals EFO_0007986 N/A Associate Reticulocyte count rs1799945-G of NONHSAT108210.2 is significantly associated with the reticulocyte count by using GWAS analysis in 170,690 european ancestry individuals(p-value = 2E-30 ;OR = 0.0573814). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT108210.2 lncRNA Reticulocyte count 0.33 GTTCTATGAT(C > G)ATGAGAGTCG chr6: 26090951 0.9269,0.07308 0.89884365443425076,0.10115634556574923 Region score:0.3; TSS score:0.25; Unmatched score:0.49; Average GERP:0.6539455445544557 GeneName:HFE; CADD-Score:7; Consquence:missense; GeneID:ENSG00000010704; TranscriptID:ENST00000357618; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000036 27863252 NONHSAT179793.1 rs429358 C N/A 171,529 european ancestry individuals EFO_0005192 N/A Associate Red cell distribution width rs429358-C of NONHSAT179793.1 is significantly associated with the red cell distribution width by using GWAS analysis in 171,529 european ancestry individuals(p-value = 8E-26 ;OR = 0.05202347). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT179793.1 lncRNA Red blood cell distribution width 0.33 GGAGGACGTG(T > C)GCGGCCGCCT chr19: 44908684 0.8494,0.1506 0.84440303261977573,0.15559696738022426 Region score:0.28; TSS score:0.39; Unmatched score:0.64; Average GERP:1.473687128712871 GeneName:AC011481.3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000280087; TranscriptID:ENST00000623895; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:APOE; CADD-Score:7; Consquence:missense; GeneID:ENSG00000130203; TranscriptID:ENST00000252486; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TOMM40; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000130204; TranscriptID:ENST00000252487; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000037 22916037 NONHSAT198713.1 rs16850360 ? N/A 6,608 european ancestry individuals EFO_0004723 N/A Associate Metabolite levels rs16850360-? of NONHSAT198713.1 is significantly associated with the metabolite levels by using GWAS analysis in 6,608 european ancestry individuals(p-value = 3E-10 ;OR = ?). 0.4 Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis. genome-wide association analysis NONHSAT198713.1 lncRNA Coronary artery calcification 0.33 ACTATTCAGA(A > G)GAACAAAAAG chr4: 74006728 0.9385,0.0615 0.94942182721712538,0.05057817278287461 Region score:0.36; TSS score:0.34; Unmatched score:0.22; Average GERP:-0.261530297029703 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000726707; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RN7SL218P; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000244194; TranscriptID:ENST00000464637; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000038 27863252 NONHSAT174709.1 rs62045844 T N/A 172,332 european ancestry individuals EFO_0004527 N/A Associate Mean corpuscular hemoglobin rs62045844-T of NONHSAT174709.1 is significantly associated with the mean corpuscular hemoglobin by using GWAS analysis in 172,332 european ancestry individuals(p-value = 8E-14 ;OR = 0.05932081). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT174709.1 lncRNA Mean corpuscular hemoglobin 0.33 GCTCTTCCAG(C > T)CTCCATTCCA chr16: 89018519 0.9852,0.01478 0.96489551478083588,0.03510448521916411 Region score:0.4; TSS score:0.35; Unmatched score:0.23; Average GERP:-0.23787128712871303 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000039 26537765 miR-146a rs2910164 G Dominant 722 acute coronary syndrome patients and 721 control subjects EFO_0005672 N/A decreasing risk acute coronary syndrome rs2910164-G of hsa-mir-146a and its dysfunction is significantly associated with the decreasing risk of Acute coronary syndrome by using case-control analysis in 722 acute coronary syndrome patients and 721 control subjects 0.4 A Genetic Variant in Pre-miR-146a (rs2910164 C>G) Is Associated with the Decreased Risk of Acute Coronary Syndrome in a Chinese Population. case-control analysis hsa-mir-146a miRNA Acute coronary syndrome 0.33 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 0 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000040 28333968 NONHSAT200526.1 rs9968300 C N/A 1,680 danish ancestry children and adolescents; 2,129 danish ancestry children and adolescents EFO_0001073 N/A Associate Plasma thyroid-stimulating hormone levels rs9968300-C of NONHSAT200526.1 is significantly associated with the plasma thyroid-stimulating hormone levels by using GWAS analysis in 1,680 danish ancestry children and adolescents; 2,129 danish ancestry children and adolescents(p-value = 2E-11 ;OR = 0.194). 0.4 A genome-wide association study of thyroid stimulating hormone and free thyroxine in Danish children and adolescents. genome-wide association analysis NONHSAT200526.1 lncRNA Obesity 0.33 GTGTGACAGG(C > A)CATGATTGAC chr4: 148801773 0.873,0.127 0.84292972731906218,0.15707027268093781 Region score:0.47; TSS score:0.25; Unmatched score:0.03; Average GERP:-0.06352386138613865 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000041 18997786 NONHSAT218223.1 rs10958409 A N/A 1,580 european ancestry cases//6,276 european ancestry controls; 495 japanese ancestry cases//676 japanese ancestry controls EFO_0003870 N/A Associate Intracranial aneurysm rs10958409-A of NONHSAT218223.1 is significantly associated with the intracranial aneurysm by using GWAS analysis in 1,580 european ancestry cases//6,276 european ancestry controls; 495 japanese ancestry cases//676 japanese ancestry controls(p-value = 1E-10 ;OR = 1.36). 0.4 Susceptibility loci for intracranial aneurysm in European and Japanese populations. genome-wide association analysis NONHSAT218223.1 lncRNA Brain aneurysm 0.33 ATATGGATTT(G > A)TGGGCAGGAA chr8: 54414531 0.7378,0.2622 0.82188933486238532,0.17811066513761467 Region score:0.33; TSS score:0.27; Unmatched score:0.17; Average GERP:-0.7360435643564355 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000042 28177126 SNORD118 rs374791151 ? Dominant 8 unrelated families with LCC Orphanet_313838 N/A increasing risk Coats plus syndrome rs374791151-? of SNORD118 and its dysfunction is significantly associated with the increasing risk of Coats plus syndrome by using Pedigree analysis in 8 unrelated families with LCC 0.4 Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts. Pedigree analysis SNORD118 snoRNA Coats plus syndrome 0.33 AACAGGTAAG(G > A,C)ATTATCCCAC chr17: 8173570 0 0.99973719418960244,0.00020705912334352,0.00005574668705402 - GeneName:AC129492.4; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000266824; TranscriptID:ENST00000581248; AnnoType:UPSTREAM; mirSVR-Score:-0.4617; mirSVR-E:-18.36 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000282324; AnnoType:REGULATORY; mirSVR-Score:-0.4617; mirSVR-E:-18.36 | GeneName:SNORD118; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000200463; TranscriptID:ENST00000363593; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.4617; mirSVR-E:-18.36 | GeneName:TMEM107; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000179029; TranscriptID:ENST00000316425; AnnoType:DOWNSTREAM; mirSVR-Score:-0.4617; mirSVR-E:-18.36 | NCRV0000000043 28240269 NONHSAT183966.1 rs12475664 A N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0008213 N/A Associate Blood protein levels rs12475664-A of NONHSAT183966.1 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 5E-16 ;OR = 0.3741). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. genome-wide association analysis NONHSAT183966.1 lncRNA Low molecular weight phosphotyrosine protein phosphatase measurement 0.33 CCTCAGGTGG(A > C,T)GTCTTCATTA chr2: 309097 0.5074,0.4926,. 0.48006657747196738,0.51976618246687054,0.00016724006116207 Region score:0.26; TSS score:0.34; Unmatched score:0.58; Average GERP:-0.5927485148514853 GeneName:AC079779.3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000235779; TranscriptID:ENST00000588842; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC079779.4; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000277997; TranscriptID:ENST00000619113; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000594586; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000594587; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000044 22778062 SNORA53 rs12297282 G N/a N/a function N/A Not significant changes in the structure Function rs12297282-G of SNORA53 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORA53 snoRNA Function -0.049 TTATGCTGCC(A > G)TTTGTTACTA chr12: 98599846 0.9718,0.02815 0.96581931702344546,0.03418068297655453 Region score:0.59; TSS score:0.31; Unmatched score:0.59; Average GERP:2.502691089108911 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000467161; AnnoType:REGULATORY; mirSVR-Score:-1.0546; mirSVR-E:-9.17 | GeneName:SLC25A3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000075415; TranscriptID:ENST00000228318; AnnoType:INTRONIC; mirSVR-Score:-1.0546; mirSVR-E:-9.17 | GeneName:SNORA53; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000212443; TranscriptID:ENST00000391141; AnnoType:NONCODING_CHANGE; mirSVR-Score:-1.0546; mirSVR-E:-9.17 | NCRV0000000045 28181414 miR-146a rs2910164 C N/A 176 AR patients and 206 healthy Chinese children as controls EFO_0005854 N/A no significance for risk allergic rhinitis rs2910164-C of hsa-mir-146a and its dysfunction is not significantly associated with Allergic rhinitis by using case-control analysis in 176 AR patients and 206 healthy Chinese children as controls -0.4 A functional variant of miRNA-149 confers risk for allergic rhinitis and comorbid asthma in Chinese children. case-control analysis hsa-mir-146a miRNA Allergic rhinitis -0.33 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 0 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000046 24952745 NONHSAT152517.1 rs12061601 C N/A up to 70,389 european ancestry individuals//up to 672 orcadian individuals; up to 33,316 european ancestry individuals EFO_0004278 N/A Associate Qt interval rs12061601-C of NONHSAT152517.1 is significantly associated with the qt interval by using GWAS analysis in up to 70,389 european ancestry individuals//up to 672 orcadian individuals; up to 33,316 european ancestry individuals(p-value = 3E-21 ;OR = 1.41). 0.4 Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization. genome-wide association analysis NONHSAT152517.1 lncRNA Sudden cardiac arrest 0.33 AGGGTTGCAT(T > C)TTGTTCCTCT chr1: 169101212 0.8608,0.1392 0.84156791539245667,0.15843208460754332 Region score:0.25; TSS score:0.45; Unmatched score:0.4; Average GERP:-1.6580544554455443 GeneName:AL031726.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000237707; TranscriptID:ENST00000415637; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AL135926.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000285622; TranscriptID:ENST00000650631; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ATP1B1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000143153; TranscriptID:ENST00000367816; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000047 27863252 NONHSAT183670.1 rs35669853 A N/A 170,494 european ancestry individuals EFO_0007989 N/A Associate Monocyte percentage of white cells rs35669853-A of NONHSAT183670.1 is significantly associated with the monocyte percentage of white cells by using GWAS analysis in 170,494 european ancestry individuals(p-value = 4E-9 ;OR = 0.02665776). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT183670.1 lncRNA Monocypte percentage of leukocytes 0.33 ACATACATTC(G > A)TTTCACTACC chr2: 226423002 0.8818,0.1182 0.86485410295616717,0.13514589704383282 Region score:0.46; TSS score:0.22; Unmatched score:0.14; Average GERP:-0.04473960396039602 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000048 24658012 miR-146a rs6864584 T N/A 520 pediatric uveitis patients and 1204 healthy controls EFO_1001231 N/A no significance for risk uveitis rs6864584-T of hsa-mir-146a and its dysfunction is not significantly associated with Uveitis by using case-control analysis in 520 pediatric uveitis patients and 1204 healthy controls -0.4 MicroRNA-146a and Ets-1 gene polymorphisms are associated with pediatric uveitis. case-control analysis hsa-mir-146a miRNA Uveitis -0.33 TGCAAGAGGG(T > C)CCCCGACCCG chr5: 160467978 0.9169,0.08307 0.93502325433231396,0.06497674566768603 Region score:0.4; TSS score:0.72; Unmatched score:0.94; Average GERP:-0.8406801980198021 GeneName:MIR3142HG; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775866; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000049 24709693 NONHSAT216442.1 rs10956445 C N/A 694 european ancestry child cases EFO_0002609 methotrexate Associate Response to methotrexate in juvenile idiopathic arthritis rs10956445-C of NONHSAT216442.1 is significantly associated with the response to methotrexate in juvenile idiopathic arthritis by using GWAS analysis in 694 european ancestry child cases(p-value = 5E-7 ;OR = 2.73). 0.4 Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases. genome-wide association analysis NONHSAT216442.1 lncRNA Chronic childhood arthritis 0.33 ATATTTTTAA(T > C)TTATTTTTTA chr8: 128775730 0.6923,0.3077 0.77737162334352701,0.22262837665647298 Region score:0.38; TSS score:0.16; Unmatched score:0.06; Average GERP:-0.21816237623762377 GeneName:CCDC26; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000229140; TranscriptID:ENST00000643616; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000050 20722507 miRNA-196a rs11614913 C N/a 458 escc cases and 489 cancer-free controls EFO_0005922 N/A Increasing risk Esophageal squamous cell carcinoma rs11614913-C of miRNA-196a and its dysfunction is significantly associated with the increasing risk of esophageal squamous cell carcinoma by using case-control analysis in 458 ESCC cases and 489 cancer-free controls. 0.4 A functional variation in pre-microRNA-196a is associated with susceptibility of esophageal squamous cell carcinoma risk in Chinese Han. case-control analysis hsa-mir-196a-2 miRNA Esophageal squamous cell cancer 0.52 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000050 24320161 miR-196a2 rs11614913 T N/A 597 esophageal squamous cell carcinoma patients and 597 control subjects EFO_0005922 N/A increasing risk esophageal squamous cell carcinoma rs11614913-T of hsa-mir-196a-2 and its dysfunction is significantly associated with the increasing risk of Esophageal squamous cell carcinoma by using case-control analysis in 597 esophageal squamous cell carcinoma patients and 597 control subjects 0.4 Hsa-miR-196a2 functional SNP is associated with the risk of ESCC in individuals under 60 years old. case-control analysis hsa-mir-196a-2 miRNA Esophageal squamous cell carcinoma 0.52 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000050 24916311 microRNA-196a-2 rs11614913 T Recessive 381 patients with esophageal squamous cell carcinoma (escc) and 426 gender, age-matched controls EFO_0005922 N/A Decreasing risk Esophageal squamous cell carcinoma rs11614913-T of microRNA-196a-2 and its dysfunction is significantly associated with the decreasing risk of esophageal squamous cell carcinoma by using case-control analysis in 381 patients with esophageal squamous cell carcinoma (ESCC) and 426 gender, age-matched controls . 0.4 MicroRNAs related polymorphisms and genetic susceptibility to esophageal squamous cell carcinoma. case-control analysis hsa-mir-196a-2 miRNA Esophageal squamous cell cancer 0.52 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000051 21793975 miR-512-2 hsa-mir-512-2 Deletion - Dominant 48 medulloblastomas EFO_0002939 N/A Increasing risk Medulloblastomas Deletion of miR-512-2 and its dysfunction is significantly associated with the increasing risk of medulloblastomas by using analysis of sequence variation in 48 medulloblastomas. 0.4 Genetic alterations in microRNAs in medulloblastomas. analysis of sequence variation; Function hsa-mir-512-2 miRNA Medulloblastoma 0.33 N/A N/A N/A N/A N/A N/A NCRV0000000052 25378659 NONHSAT188483.1 rs680379 A N/A 10,129 european ancestry individuals EFO_0006796 N/A Associate Very long-chain saturated fatty acid levels (fatty acid 20:0) rs680379-A of NONHSAT188483.1 is significantly associated with the very long-chain saturated fatty acid levels (fatty acid 20:0) by using GWAS analysis in 10,129 european ancestry individuals(p-value = 6E-13 ;OR = 7.205). 0.4 Genetic loci associated with circulating levels of very long-chain saturated fatty acids. genome-wide association analysis NONHSAT188483.1 lncRNA Very long-chain saturated fatty acid measurement 0.33 AAGCCACAAC(A > G,T)TTGATTCAAG chr20: 12988752 0.2917,0.7083,. 0.31064443170234454,0.68841583843017329,0.00093972986748216 Region score:0.35; TSS score:0.17; Unmatched score:0.03; Average GERP:-0.7529178217821783 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000053 19801982 NONHSAT174674.1 rs10048146 G N/A 19,195 european ancestry individuals EFO_0007702 N/A Associate Bone mineral density (hip) rs10048146-G of NONHSAT174674.1 is significantly associated with the bone mineral density (hip) by using GWAS analysis in 19,195 european ancestry individuals(p-value = 2E-7 ;OR = 0.09). 0.4 Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies. genome-wide association analysis NONHSAT174674.1 lncRNA Hip bone mineral density 0.33 GGGCTCTTTC(A > G)TTTTGGAGAC chr16: 86677054 0.8393,0.1607 0.82807721712538226,0.17192278287461773 Region score:0.36; TSS score:0.37; Unmatched score:0.2; Average GERP:-0.3806782178217822 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000545172; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000054 23526039 miR-185 rs887205 GG recessive 1,972 cases and 1,776 controls EFO_0000305 N/A decreasing risk breast carcinoma rs887205-GG of hsa-mir-185 and its dysfunction is significantly associated with the decreasing risk of Breast carcinoma by using case-control analysis in 1,972 cases and 1,776 controls 0.4 Association of germline microRNA SNPs in pre-miRNA flanking region and breast cancer risk and survival: the Carolina Breast Cancer Study. case-control analysis hsa-mir-185 miRNA Breast carcinoma 0.33 CCAACCCTGC(A > G,T)TGGCTTTGAC chr22: 20032550 0.5919,0.4081,. 0.56758091233435270,0.43241112385321100,0.00000796381243628 Region score:0.25; TSS score:0.1; Unmatched score:0.24; Average GERP:-0.46197920792079206 GeneName:MIR185; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000208023; TranscriptID:ENST00000385288; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000666651; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TANGO2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000183597; TranscriptID:ENST00000456048; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000055 28259691 HOTAIR rs1899663 T Dominant 143 Iranian BPH patients and 250 normal male controls EFO_0000284 N/A increasing risk benign prostatic hyperplasia rs1899663-T of HOTAIR and its dysfunction is significantly associated with the increasing risk of Benign prostatic hyperplasia by using case-control analysis in 143 Iranian BPH patients and 250 normal male controls 0.4 HOTAIR genetic variants are associated with prostate cancer and benign prostate hyperplasia in an Iranian population. case-control analysis HOTAIR lncRNA Benign prostatic hyperplasia 0.33 TTGTTGTCAC(C > A)TCCACCCTCC chr12: 53967210 0.7462,0.2538 0.72418132008154943,0.27581867991845056 Region score:0.22; TSS score:0.34; Unmatched score:0.86; Average GERP:-0.48725445544554463 GeneName:AC012531.4; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000274817; TranscriptID:ENST00000616509; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC012531.5; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277129; TranscriptID:ENST00000611375; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOTAIR; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000228630; TranscriptID:ENST00000424518; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000458643; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01905; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000275589; TranscriptID:ENST00000611210; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01906; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000277994; TranscriptID:ENST00000611352; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000056 26152337 hsa-mir-149 rs71428439 G N/a 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs71428439-G of hsa-mir-149 and its dysfunction is not significantly associated with hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors. -0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. case-control analysis hsa-mir-149 miRNA Hepatocellular cancer -0.33 GTGCTGGGGC(A > G)GCTGGAACAA chr2: 240456083 0.856,0.144 0.86584161569826707,0.13415838430173292 Region score:0.31; TSS score:0.43; Unmatched score:0.89; Average GERP:1.6272524752475235 GeneName:AC110619.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000218416; TranscriptID:ENST00000404891; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GPC1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000063660; TranscriptID:ENST00000264039; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR149; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207611; TranscriptID:ENST00000384879; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000133146; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000057 28135244 NONHSAT081029.2 rs8126001 T N/A 140,886 european ancestry individuals; 190,318 european ancestry individuals EFO_0005763 N/A Associate Pulse pressure rs8126001-T of NONHSAT081029.2 is significantly associated with the pulse pressure by using GWAS analysis in 140,886 european ancestry individuals; 190,318 european ancestry individuals(p-value = 1E-7 ;OR = 0.1786). 0.4 Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk. genome-wide association analysis NONHSAT081029.2 lncRNA Pulse pressure measurement 0.33 CGCGTCGGCC(C > T)CCACAGTCGC chr20: 64080106 0.5401,0.4599 0.52945017838939857,0.47054982161060142 Region score:0.52; TSS score:0.53; Unmatched score:0.95; Average GERP:-0.7517772277227719 GeneName:LKAAEAR1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000171695; TranscriptID:ENST00000308906; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR6813; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000274034; TranscriptID:ENST00000621638; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000299358; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:OPRL1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000125510; TranscriptID:ENST00000349451; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RGS19; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000171700; TranscriptID:ENST00000395042; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000058 25751625 NONHSAT182525.1 rs4849887 C N/A 15,748 european ancestry cases//18,084 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls EFO_0000305 N/A Associate Breast cancer rs4849887-C of NONHSAT182525.1 is significantly associated with the breast cancer by using GWAS analysis in 15,748 european ancestry cases//18,084 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls(p-value = 2E-11 ;OR = 1.098901). 0.4 Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer. genome-wide association analysis NONHSAT182525.1 lncRNA Breast cancer 0.52 TCTGGCAATG(T > A,C)TGAAGCTTGA chr2: 120487546 0.2085,.,0.7915 0.16872929408766564,0.00562245158002038,0.82564825433231396 Region score:0.4; TSS score:0.27; Unmatched score:0.23; Average GERP:-1.9439574257425747 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000058 29059683 NONHSAT182525.1 rs4849887 C N/A 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls EFO_0000305 N/A Associate Breast cancer rs4849887-C of NONHSAT182525.1 is significantly associated with the breast cancer by using GWAS analysis in 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls(p-value = 7E-20 ;OR = 1.098901). 0.4 Association analysis identifies 65 new breast cancer risk loci. genome-wide association analysis NONHSAT182525.1 lncRNA Breast cancer 0.52 TCTGGCAATG(T > A,C)TGAAGCTTGA chr2: 120487546 0.2085,.,0.7915 0.16872929408766564,0.00562245158002038,0.82564825433231396 Region score:0.4; TSS score:0.27; Unmatched score:0.23; Average GERP:-1.9439574257425747 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000058 23535729 NONHSAT182525.1 rs4849887 C N/A 10,052 european ancestry cases//12,575 european ancestry controls; 45,290 european ancestry cases//41,880 european ancestry controls EFO_0000305 N/A Associate Breast cancer rs4849887-C of NONHSAT182525.1 is significantly associated with the breast cancer by using GWAS analysis in 10,052 european ancestry cases//12,575 european ancestry controls; 45,290 european ancestry cases//41,880 european ancestry controls(p-value = 4E-11 ;OR = 1.1). 0.4 Large-scale genotyping identifies 41 new loci associated with breast cancer risk. genome-wide association analysis NONHSAT182525.1 lncRNA Breast cancer 0.52 TCTGGCAATG(T > A,C)TGAAGCTTGA chr2: 120487546 0.2085,.,0.7915 0.16872929408766564,0.00562245158002038,0.82564825433231396 Region score:0.4; TSS score:0.27; Unmatched score:0.23; Average GERP:-1.9439574257425747 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000059 20167578 NONHSAT061051.2 rs3093030 T N/A up to 9,813 european ancestry individuals HP_0001658 N/A Associate Soluble levels of adhesion molecules rs3093030-T of NONHSAT061051.2 is significantly associated with the soluble levels of adhesion molecules by using GWAS analysis in up to 9,813 european ancestry individuals(p-value = 4E-23 ;OR = 4.15). 0.4 Large-scale genomic studies reveal central role of ABO in sP-selectin and sICAM-1 levels. genome-wide association analysis NONHSAT061051.2 lncRNA Myocardial infarction 0.33 GGGTTGATGG(C > T)CATACCCTGA chr19: 10286727 0.6801,0.3199 0.66892838939857288,0.33107161060142711 Region score:0.41; TSS score:0.44; Unmatched score:0.79; Average GERP:-0.24233762376237622 GeneName:AC011511.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000266978; TranscriptID:ENST00000592893; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC011511.5; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000267607; TranscriptID:ENST00000589379; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ICAM1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000090339; TranscriptID:ENST00000264832; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ICAM4; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000105371; TranscriptID:ENST00000340992; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ICAM5; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000105376; TranscriptID:ENST00000221980; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000584266; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000060 27089181 NONHSAT174300.1 rs11644362 T N/A 298,420 korculan (founder/genetic isolate)//split (founder/genetic isolate)//vis (founder/genetic isolate)//erasmus rucphen (founder/genetic isolate) and other european ancestry individuals EFO_0007869 N/A Associate Positive affect rs11644362-T of NONHSAT174300.1 is significantly associated with the positive affect by using GWAS analysis in 298,420 korculan (founder/genetic isolate)//split (founder/genetic isolate)//vis (founder/genetic isolate)//erasmus rucphen (founder/genetic isolate) and other european ancestry individuals(p-value = 7E-6 ;OR = 0.0156). 0.4 Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses. genome-wide association analysis NONHSAT174300.1 lncRNA Wellbeing measurement 0.33 AGAGTCCCAA(T > A,C)AAATCCTCCC chr16: 12900240 0.5577,.,0.4423 0.51631785168195718,0.00010352956167176,0.48357861875637104 Region score:0.52; TSS score:0.64; Unmatched score:0.8; Average GERP:-0.5980495049504949 GeneName:SHISA9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000237515; TranscriptID:ENST00000558583; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000061 29221444 NONHSAT199425.1 rs17295603 ? N/A 691 african american individuals; 205 african american individuals EFO_0004723 N/A Associate Coronary artery calcified atherosclerotic plaque score in type 2 diabetes rs17295603-? of NONHSAT199425.1 is significantly associated with the coronary artery calcified atherosclerotic plaque score in type 2 diabetes by using GWAS analysis in 691 african american individuals; 205 african american individuals(p-value = 8E-6 ;OR = 1.185). 0.4 Genome-wide association study of coronary artery calcified atherosclerotic plaque in African Americans with type 2 diabetes. genome-wide association analysis NONHSAT199425.1 lncRNA Coronary artery calcification 0.33 TCCCGGAACC(G > A)GAATTGTCTC chr4: 174540366 0.9403,0.0597 0.92410486748216106,0.07589513251783893 Region score:0.43; TSS score:0.37; Unmatched score:0.75; Average GERP:-1.791109108910892 GeneName:AC096751.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000250596; TranscriptID:ENST00000515178; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC096751.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000251584; TranscriptID:ENST00000507483; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000743716; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000062 23350875 NONHSAT089495.2 rs8180040 ? N/A 882 european ancestry cases//473 european ancestry controls; 1,436 european ancestry cases//1,780 european ancestry controls EFO_0005842 N/A Associate Colorectal cancer rs8180040-? of NONHSAT089495.2 is significantly associated with the colorectal cancer by using GWAS analysis in 882 european ancestry cases//473 european ancestry controls; 1,436 european ancestry cases//1,780 european ancestry controls(p-value = 2E-6 ;OR = 1.28). 0.4 A colorectal cancer genome-wide association study in a Spanish cohort identifies two variants associated with colorectal cancer risk at 1p33 and 8p12. genome-wide association analysis NONHSAT089495.2 lncRNA Colorectal cancer 0.33 GTTGGGAAAC(T > A)CTTCAGTCAC chr3: 47347457 0.6246,0.3754 0.63059059633027522,0.36940940366972477 Region score:0.42; TSS score:0.51; Unmatched score:0.47; Average GERP:0.2443930693069308 GeneName:AC104447.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000280173; TranscriptID:ENST00000624214; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:KLHL18; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000114648; TranscriptID:ENST00000232766; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000684996; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000063 24159190 NONHSAT161564.1 rs116875324 T N/A 5110 european ancestry individuals EFO_0005418 N/A Associate Symmetrical dimethylarginine levels rs116875324-T of NONHSAT161564.1 is significantly associated with the symmetrical dimethylarginine levels by using GWAS analysis in 5110 european ancestry individuals(p-value = 9E-6 ;OR = 0.229). 0.4 Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality. genome-wide association analysis NONHSAT161564.1 lncRNA Serum dimethylarginine measurement 0.33 CTGAGTCTGA(C > T)AAATAGTCCC chr11: 121335740 0.9904,0.009585 0.98925681702344546,0.01074318297655453 Region score:0.29; TSS score:0.38; Unmatched score:0.22; Average GERP:-0.42547821782178213 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000045985; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000064 26634245 NONHSAT093003.2 rs146844429 G N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs146844429-G of NONHSAT093003.2 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 3E-7 ;OR = 2.36). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT093003.2 lncRNA Pulmonary function measurement 0.33 GGATGACTGA(A > G)TTTATTTTAA chr3: 160753967 0.9956,0.004393 0.99789755351681957,0.00210244648318042 Region score:0.41; TSS score:0.57; Unmatched score:0.79; Average GERP:0.16227524752475272 GeneName:AC069224.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000260572; TranscriptID:ENST00000566372; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PPM1L; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000163590; TranscriptID:ENST00000498165; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000065 22885922 NONHSAT152910.1 rs2075423 G N/A 6,377 european ancestry male cases//5,794 european ancestry female cases//22,243 european ancestry male controls//34,619 european ancestry female controls; 12,938 european ancestry male cases//8,553 european ancestry female cases//904 pakistani ancestry male cases//274 pakistani ancestry female cases//30,273 european ancestry male controls//25,374 european ancestry female controls//2,088 pakistani ancestry male controls//384 pakistani ancestry female controls EFO_0001360 N/A Associate Type 2 diabetes rs2075423-G of NONHSAT152910.1 is significantly associated with the type 2 diabetes by using GWAS analysis in 6,377 european ancestry male cases//5,794 european ancestry female cases//22,243 european ancestry male controls//34,619 european ancestry female controls; 12,938 european ancestry male cases//8,553 european ancestry female cases//904 pakistani ancestry male cases//274 pakistani ancestry female cases//30,273 european ancestry male controls//25,374 european ancestry female controls//2,088 pakistani ancestry male controls//384 pakistani ancestry female controls(p-value = 8E-9 ;OR = 1.07). 0.4 Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes. genome-wide association analysis NONHSAT152910.1 lncRNA Type ii diabetes mellitus 0.451 TGGTTTCATT(G > T)GTCTGACCAG chr1: 213981376 0.7059,0.2941 0.65694285168195718,0.34305714831804281 Region score:0.35; TSS score:0.58; Unmatched score:0.67; Average GERP:0.6266178217821782 GeneName:AC011700.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000274895; TranscriptID:ENST00000610409; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000386082; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PROX1-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000230461; TranscriptID:ENST00000433082; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PROX1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000117707; TranscriptID:ENST00000471129; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000065 24509480 NONHSAT152910.1 rs2075423 G N/A 12,171 european ancestry cases//56,862 european ancestry controls//6,952 east asian ancestry cases//11,865 east asian ancestry controls//5,561 south asian ancestry cases//14,458 south asian ancestry controls//1,804 mexican ancestry cases//779 mexican ancestry controls; 21,491 european ancestry cases//55,647 european ancestry controls EFO_0001360 N/A Associate Type 2 diabetes rs2075423-G of NONHSAT152910.1 is significantly associated with the type 2 diabetes by using GWAS analysis in 12,171 european ancestry cases//56,862 european ancestry controls//6,952 east asian ancestry cases//11,865 east asian ancestry controls//5,561 south asian ancestry cases//14,458 south asian ancestry controls//1,804 mexican ancestry cases//779 mexican ancestry controls; 21,491 european ancestry cases//55,647 european ancestry controls(p-value = 2E-6 ;OR = 1.08). 0.4 Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. genome-wide association analysis NONHSAT152910.1 lncRNA Type ii diabetes mellitus 0.451 TGGTTTCATT(G > T)GTCTGACCAG chr1: 213981376 0.7059,0.2941 0.65694285168195718,0.34305714831804281 Region score:0.35; TSS score:0.58; Unmatched score:0.67; Average GERP:0.6266178217821782 GeneName:AC011700.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000274895; TranscriptID:ENST00000610409; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000386082; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PROX1-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000230461; TranscriptID:ENST00000433082; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PROX1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000117707; TranscriptID:ENST00000471129; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000066 26785701 NONHSAT210397.1 rs5020946 T N/A up to 39,869 east asian individuals; up to 20,137 east asian individuals//up to 209,947 individuals EFO_0007788 N/A Associate Waist-to-hip ratio adjusted for body mass index rs5020946-T of NONHSAT210397.1 is significantly associated with the waist-to-hip ratio adjusted for body mass index by using GWAS analysis in up to 39,869 east asian individuals; up to 20,137 east asian individuals//up to 209,947 individuals(p-value = 4E-8 ;OR = 0.03568). 0.4 Genome-wide association studies in East Asians identify new loci for waist-hip ratio and waist circumference. genome-wide association analysis NONHSAT210397.1 lncRNA Bmi-adjusted waist-hip ratio 0.33 CTTCCCTGAA(G > C,T)CTCTCTACTC chr6: 32482312 0.6388,.,0.3612 0.64163640417940876,0.00002389143730886,0.35833970438328236 Region score:0.27; TSS score:0.29; Unmatched score:0.28; Average GERP:-0.1042673267326733 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000067 28334899 NONHSAT160878.1 rs2401 T N/A 22,526 east asian ancestry individuals; 37,842 east asian ancestry individuals EFO_0000319 N/A Associate Ldl cholesterol levels rs2401-T of NONHSAT160878.1 is significantly associated with the ldl cholesterol levels by using GWAS analysis in 22,526 east asian ancestry individuals; 37,842 east asian ancestry individuals(p-value = 5E-8 ;OR = 0.079). 0.4 Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels. genome-wide association analysis NONHSAT160878.1 lncRNA Cardiovascular disease 0.33 CTGGTGCATG(T > C)AGCTCAGCTA chr11: 126341832 0.9409,0.05911 0.94401439857288481,0.05598560142711518 Region score:0.23; TSS score:0.24; Unmatched score:0.31; Average GERP:-1.3817960396039612 GeneName:DCPS; CADD-Score:2; Consquence:intron; GeneID:ENSG00000110063; TranscriptID:ENST00000263579; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GSEC; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000280832; TranscriptID:ENST00000629441; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000445866; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000068 23400010 NONHSAT160517.1 rs17133858 T N/A 425 european ancestry cases//342 african american cases EFO_0000537 Thiazide-induced Associate Thiazide-induced adverse metabolic effects in hypertensive patients rs17133858-T of NONHSAT160517.1 is significantly associated with the thiazide-induced adverse metabolic effects in hypertensive patients by using GWAS analysis in 425 european ancestry cases//342 african american cases(p-value = 6E-6 ;OR = 20.99). 0.4 Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans. genome-wide association analysis NONHSAT160517.1 lncRNA Hypertension 0.33 CCCCGAGTTT(G > T)TGAGGCACCC chr11: 75260513 0.9411,0.05891 0.93714162844036697,0.06285837155963302 Region score:0.22; TSS score:0.28; Unmatched score:0.46; Average GERP:-0.6394210891089106 GeneName:AP001972.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000254429; TranscriptID:ENST00000529215; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AP001972.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000254963; TranscriptID:ENST00000529304; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AP001972.5; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000279117; TranscriptID:ENST00000624624; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ARRB1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000137486; TranscriptID:ENST00000420843; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000069 22179738 NONHSAT103809.2 rs2303670 ? N/A 20 han chinese ancestry male gout cases//42 han chinese ancestry male controls EFO_0004274 N/A Associate Gout rs2303670-? of NONHSAT103809.2 is significantly associated with the gout by using GWAS analysis in 20 han chinese ancestry male gout cases//42 han chinese ancestry male controls(p-value = 1E-7 ;OR = ?). 0.4 Gout and type 2 diabetes have a mutual inter-dependent effect on genetic risk factors and higher incidences. genome-wide association analysis NONHSAT103809.2 lncRNA Gout 0.33 GAAATCATGC(C > A,G)CTAGGACCAC chr5: 133224458 0.7644,.,0.2356 0.81555014016309887,0.00000796381243628,0.18444189602446483 Region score:0.2; TSS score:0.19; Unmatched score:0.14; Average GERP:-0.5220069306930696 GeneName:AC010307.2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000248245; TranscriptID:ENST00000502776; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:FSTL4; CADD-Score:2; Consquence:intron; GeneID:ENSG00000053108; TranscriptID:ENST00000265342; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000070 27863252 NONHSAT004977.2 rs663045 C N/A 172,435 european ancestry individuals EFO_0004308 N/A Associate White blood cell count rs663045-C of NONHSAT004977.2 is significantly associated with the white blood cell count by using GWAS analysis in 172,435 european ancestry individuals(p-value = 6E-10 ;OR = 0.02226758). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT004977.2 lncRNA Leukocyte count 0.33 GAGGGAGCTG(G > C)GAGCTGGGTC chr1: 108200437 0.4187,0.5813 0.45580880479102956,0.54419119520897043 Region score:0.42; TSS score:0.43; Unmatched score:0.98; Average GERP:-2.1942909900990104 GeneName:AL359258.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000260879; TranscriptID:ENST00000564063; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AL359258.3; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000280186; TranscriptID:ENST00000622910; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000010962; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000367943; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SLC25A24; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000085491; TranscriptID:ENST00000565488; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000071 22778062 SNORA38 rs11755228 G N/A N/A function N/A not significant changes in the structure function rs11755228-G of SNORA38 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in nan -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORA38 snoRNA function -0.049 GGAAAATAAA(T > C,G)GTGGATTTGG chr6: 31623144 0.993,.,0.006989 0.99397935779816513,0.00000796381243628,0.00601267838939857 Region score:0.38; TSS score:0.3; Unmatched score:0.63; Average GERP:2.8803702970297023 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000195571; AnnoType:REGULATORY; mirSVR-Score:-0.2870; mirSVR-E:-16.01 | GeneName:PRRC2A; CADD-Score:2; Consquence:intron; GeneID:ENSG00000204469; TranscriptID:ENST00000376033; AnnoType:INTRONIC; mirSVR-Score:-0.2870; mirSVR-E:-16.01 | GeneName:SNORA38; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000200816; TranscriptID:ENST00000363946; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.2870; mirSVR-E:-16.01 | NCRV0000000072 27021288 NONHSAT206229.1 rs76037120 C N/A 1,060 european ancestry adult cases HP_0000718 N/A Associate Aggressiveness in attention deficit hyperactivity disorder rs76037120-C of NONHSAT206229.1 is significantly associated with the aggressiveness in attention deficit hyperactivity disorder by using GWAS analysis in 1,060 european ancestry adult cases(p-value = 3E-6 ;OR = 3.224). 0.4 Genome-wide analyses of aggressiveness in attention-deficit hyperactivity disorder. genome-wide association analysis NONHSAT206229.1 lncRNA Aggressive behavior 0.33 AAGAATCCCA(G > C)GCTTCATCCC chr5: 109597780 0.9669,0.03315 0.94871304791029561,0.05128695208970438 Region score:0.36; TSS score:0.04; Unmatched score:0.01; Average GERP:-0.09157366336633657 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000073 28441456 NONHSAT084465.2 rs16981003 T N/A 2,187 european ancestry individuals EFO_0007858 N/A Associate Facial morphology (factor 2//vertical position of orbits relative to midface) rs16981003-T of NONHSAT084465.2 is significantly associated with the facial morphology (factor 2//vertical position of orbits relative to midface) by using GWAS analysis in 2,187 european ancestry individuals(p-value = 2E-6 ;OR = 0.3912). 0.4 Genome-wide association study of facial morphology reveals novel associations with FREM1 and PARK2. genome-wide association analysis NONHSAT084465.2 lncRNA Eye morphology measurement 0.33 TCTCAGATCA(C > T)GTGAGCCATT chr22: 25899066 0.9187,0.08127 0.91497037461773700,0.08502962538226299 Region score:0.4; TSS score:0.25; Unmatched score:0.43; Average GERP:-1.3533603960396035 GeneName:MYO18B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000133454; TranscriptID:ENST00000407587; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000301435; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:Z98949.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000231933; TranscriptID:ENST00000453457; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000074 28067908 NONHSAT206871.1 rs17119 ? N/A 25,042 european and unknown ancestry cases//34,915 european and unknown ancestry controls EFO_0003767 N/A Associate Inflammatory bowel disease rs17119-? of NONHSAT206871.1 is significantly associated with the inflammatory bowel disease by using GWAS analysis in 25,042 european and unknown ancestry cases//34,915 european and unknown ancestry controls(p-value = 9E-11 ;OR = ?). 0.4 Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease. genome-wide association analysis NONHSAT206871.1 lncRNA Inflammatory bowel disease 0.52 TTATTACAGT(G > A)GGATTAGAGT chr6: 14719265 0.2738,0.7262 0.26280581039755351,0.73719418960244648 Region score:0.29; TSS score:0.2; Unmatched score:0.09; Average GERP:-0.5867900990099011 GeneName:AL138720.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000234261; TranscriptID:ENST00000629853; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000074 23128233 NONHSAT206871.1 rs17119 A N/A 12,924 european ancestry cases//21,442 european ancestry controls; 25,683 european ancestry cases//17,015 european ancestry controls EFO_0003767 N/A Associate Inflammatory bowel disease rs17119-A of NONHSAT206871.1 is significantly associated with the inflammatory bowel disease by using GWAS analysis in 12,924 european ancestry cases//21,442 european ancestry controls; 25,683 european ancestry cases//17,015 european ancestry controls(p-value = 3E-11 ;OR = 1.071). 0.4 Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. genome-wide association analysis NONHSAT206871.1 lncRNA Inflammatory bowel disease 0.52 TTATTACAGT(G > A)GGATTAGAGT chr6: 14719265 0.2738,0.7262 0.26280581039755351,0.73719418960244648 Region score:0.29; TSS score:0.2; Unmatched score:0.09; Average GERP:-0.5867900990099011 GeneName:AL138720.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000234261; TranscriptID:ENST00000629853; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000074 26192919 NONHSAT206871.1 rs17119 A N/A 12,882 european ancestry cases//21,770 european ancestry controls; 25,273 european ancestry cases//26,715 european ancestry controls//548 iranian ancestry cases//342 iranian ancestry control//1,423 indian ancestry cases//990 indian ancestry controls//2,824 east asian ancestry cases//3,719 east asian ancestry controls EFO_0003767 N/A Associate Inflammatory bowel disease rs17119-A of NONHSAT206871.1 is significantly associated with the inflammatory bowel disease by using GWAS analysis in 12,882 european ancestry cases//21,770 european ancestry controls; 25,273 european ancestry cases//26,715 european ancestry controls//548 iranian ancestry cases//342 iranian ancestry control//1,423 indian ancestry cases//990 indian ancestry controls//2,824 east asian ancestry cases//3,719 east asian ancestry controls(p-value = 2E-11 ;OR = 1.0868671). 0.4 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. genome-wide association analysis NONHSAT206871.1 lncRNA Inflammatory bowel disease 0.52 TTATTACAGT(G > A)GGATTAGAGT chr6: 14719265 0.2738,0.7262 0.26280581039755351,0.73719418960244648 Region score:0.29; TSS score:0.2; Unmatched score:0.09; Average GERP:-0.5867900990099011 GeneName:AL138720.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000234261; TranscriptID:ENST00000629853; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000075 26178671 let-7 rs17276588 A Dominant 503 metabolic syndrome patients and 529 normal controls in a Chinese population EFO_0000195 N/A increasing risk metabolic syndrome rs17276588-A of hsa-let-7a-1 and its dysfunction is significantly associated with the increasing risk of Metabolic syndrome by using case-control analysis in 503 metabolic syndrome patients and 529 normal controls in a Chinese population 0.4 Let-7 related genetic variation and risk of metabolic syndrome in a Chinese population. case-control analysis hsa-let-7a-1 miRNA Metabolic syndrome 0.33 ACCAATGTGG(G > A)ACTTTGCAAG chrX: 53557457 0.9012,0.09881 0.94305874108053007,0.05694125891946992 Region score:0.66; TSS score:0.13; Unmatched score:0.41; Average GERP:1.1050594059405945 GeneName:HUWE1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000086758; TranscriptID:ENST00000342160; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR98; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000271886; TranscriptID:ENST00000606724; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIRLET7F2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000208012; TranscriptID:ENST00000385277; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000076 20385819 NONHSAT158562.1 rs3793917 G N/A 2,157 european ancestry cases//1,150 european ancestry controls; 7,892 european ancestry cases//5,998 european ancestry controls//678 japanese ancestry cases//336 japanese ancestry controls EFO_0001365 N/A Associate Age-related macular degeneration rs3793917-G of NONHSAT158562.1 is significantly associated with the age-related macular degeneration by using GWAS analysis in 2,157 european ancestry cases//1,150 european ancestry controls; 7,892 european ancestry cases//5,998 european ancestry controls//678 japanese ancestry cases//336 japanese ancestry controls(p-value = 4E-60 ;OR = 3.4). 0.4 Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration. genome-wide association analysis NONHSAT158562.1 lncRNA Age-related macular degeneration 0.451 TTTCGGTCCG(C > G)TCATTCCCTC chr10: 122459759 0.7111,0.2889 0.75601267838939857,0.24398732161060142 Region score:0.36; TSS score:0.73; Unmatched score:0.81; Average GERP:-0.6668688118811883 GeneName:ARMS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000254636; TranscriptID:ENST00000528446; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:BX842242.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000285955; TranscriptID:ENST00000650300; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HTRA1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000166033; TranscriptID:ENST00000368984; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000076 23326517 NONHSAT158562.1 rs3793917 ? N/A 3,772 european ancestry cases//16,033 european ancestry controls; 264 asian ancestry cases//3,926 asian ancestry controls EFO_0001365 N/A Associate Age-related macular degeneration rs3793917-? of NONHSAT158562.1 is significantly associated with the age-related macular degeneration by using GWAS analysis in 3,772 european ancestry cases//16,033 european ancestry controls; 264 asian ancestry cases//3,926 asian ancestry controls(p-value = 4E-24 ;OR = 1.45). 0.4 Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis. genome-wide association analysis NONHSAT158562.1 lncRNA Age-related macular degeneration 0.451 TTTCGGTCCG(C > G)TCATTCCCTC chr10: 122459759 0.7111,0.2889 0.75601267838939857,0.24398732161060142 Region score:0.36; TSS score:0.73; Unmatched score:0.81; Average GERP:-0.6668688118811883 GeneName:ARMS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000254636; TranscriptID:ENST00000528446; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:BX842242.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000285955; TranscriptID:ENST00000650300; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HTRA1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000166033; TranscriptID:ENST00000368984; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000077 22778062 SNORD115-3 rs12905695 T N/a N/a function N/A Not significant changes in the structure Function rs12905695-T of SNORD115-3 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD115-3 snoRNA Function -0.049 AAATCATGCT(T > C)AGTAGGATTA chr15: 25174987 0.9974,0.002596 0.98874713302752293,0.01125286697247706 Region score:0.43; TSS score:0.15; Unmatched score:0.59; Average GERP:-0.024590099009901008 GeneName:SNHG14; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000224078; TranscriptID:ENST00000441592; AnnoType:INTRONIC; mirSVR-Score:-0.5504; mirSVR-E:-8.30 | GeneName:SNORD115-1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000201831; TranscriptID:ENST00000364961; AnnoType:DOWNSTREAM; mirSVR-Score:-0.5504; mirSVR-E:-8.30 | GeneName:SNORD115-2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000199712; TranscriptID:ENST00000362842; AnnoType:DOWNSTREAM; mirSVR-Score:-0.5504; mirSVR-E:-8.30 | GeneName:SNORD115-3; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000199970; TranscriptID:ENST00000363100; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.5504; mirSVR-E:-8.30 | GeneName:SNORD115-4; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000200680; TranscriptID:ENST00000363810; AnnoType:UPSTREAM; mirSVR-Score:-0.5504; mirSVR-E:-8.30 | GeneName:SNORD115-5; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000200503; TranscriptID:ENST00000363633; AnnoType:UPSTREAM; mirSVR-Score:-0.5504; mirSVR-E:-8.30 | NCRV0000000078 27015805 NONHSAT221382.1 rs118142265 ? N/A 52,776 middle-aged british individuals EFO_0007796 N/A Associate Parental longevity (mother's age at death) rs118142265-? of NONHSAT221382.1 is significantly associated with the parental longevity (mother's age at death) by using GWAS analysis in 52,776 middle-aged british individuals(p-value = 9E-7 ;OR = 0.11033). 0.4 Human longevity is influenced by many genetic variants: evidence from 75,000 UK Biobank participants. genome-wide association analysis NONHSAT221382.1 lncRNA Parental longevity 0.33 CAGGCCAGAG(G > T)CCGTTCTCGG chr9: 129431754 0.9794,0.02057 0.98056829765545361,0.01943170234454638 Region score:0.42; TSS score:0.36; Unmatched score:0.62; Average GERP:0.03418613861386136 GeneName:AL353803.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000230676; TranscriptID:ENST00000436510; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000079 22005931 NONHSAT174682.1 rs12933233 ? N/A 1,190 european ancestry cases//1,032 cases EFO_0000249 N/A Associate Alzheimer's disease (age of onset) rs12933233-? of NONHSAT174682.1 is significantly associated with the alzheimer's disease (age of onset) by using GWAS analysis in 1,190 european ancestry cases//1,032 cases(p-value = 8E-6 ;OR = 0.7869). 0.4 Genome-wide association analysis of age-at-onset in Alzheimer's disease. genome-wide association analysis NONHSAT174682.1 lncRNA Alzheimers disease 0.33 AGCTTTCTGC(A > G)AGTGTTCACG chr16: 87078024 0.475,0.525 0.40090628185524974,0.59909371814475025 Region score:0.21; TSS score:0.29; Unmatched score:0.09; Average GERP:-0.9300626732673267 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000281878; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000080 26776603 NONHSAT207623.1 rs284511 C N/A 31 japanese ancestry mild cases//282 japanese ancestry moderate cases//131 japanese ancestry severe cases EFO_0000685 N/A Associate Response to anti-tnf therapy in rheumatoid arthritis rs284511-C of NONHSAT207623.1 is significantly associated with the response to anti-tnf therapy in rheumatoid arthritis by using GWAS analysis in 31 japanese ancestry mild cases//282 japanese ancestry moderate cases//131 japanese ancestry severe cases(p-value = 3E-8 ;OR = 0.41). 0.4 A longitudinal genome-wide association study of anti-tumor necrosis factor response among Japanese patients with rheumatoid arthritis. genome-wide association analysis NONHSAT207623.1 lncRNA Rheumatoid arthritis 0.33 TTCTCCCTCC(T > A,C)GTCATCCCAA chr6: 90498823 0.4754,.,0.5246 0.44806797910295616,0.00005574668705402,0.55187627420998980 Region score:0.27; TSS score:0.18; Unmatched score:0.02; Average GERP:-0.019087128712871337 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000081 24143882 NONHSAT018246.2 rs60349741 ? N/A 1,383 european ancestry cases//996 european ancestry controls//683 african american cases//2,635 african american controls; 2,116 european ancestry individuals//4,496 african american individuals GO_0014072 N/A Associate Opioid sensitivity rs60349741-? of NONHSAT018246.2 is significantly associated with the opioid sensitivity by using GWAS analysis in 1,383 european ancestry cases//996 european ancestry controls//683 african american cases//2,635 african american controls; 2,116 european ancestry individuals//4,496 african american individuals(p-value = 5E-7 ;OR = ?). 0.4 Genome-wide association study of opioid dependence: multiple associations mapped to calcium and potassium pathways. genome-wide association analysis NONHSAT018246.2 lncRNA Response to opiate 0.33 CATGCACACC(A > C,T)GCTAATCCCA chr11: 17774564 0.979,0.02097,. 0.97962060397553516,0.02035550458715596,0.00002389143730886 Region score:0.31; TSS score:0.62; Unmatched score:0.76; Average GERP:-0.9280362376237623 GeneName:KCNC1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000129159; TranscriptID:ENST00000265969; AnnoType:INTRONIC; mirSVR-Score:-0.1222; mirSVR-E:-22.16 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000424969; AnnoType:REGULATORY; mirSVR-Score:-0.1222; mirSVR-E:-22.16 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000424970; AnnoType:REGULATORY; mirSVR-Score:-0.1222; mirSVR-E:-22.16 | NCRV0000000082 28714975 NONHSAT115003.2 rs12202017 A N/A 18,467 european and unknown ancestry cases//45,264 european and unknown ancestry controls; 57,347 european and unknown ancestry cases//219,521 european and unknown ancestry controls EFO_0000378 N/A Associate Coronary artery disease (myocardial infartum//percutaneous transluminal coronary angioplasty//coronary artery bypass grafting//angina or chromic ischemic heart disease) rs12202017-A of NONHSAT115003.2 is significantly associated with the coronary artery disease (myocardial infartum//percutaneous transluminal coronary angioplasty//coronary artery bypass grafting//angina or chromic ischemic heart disease) by using GWAS analysis in 18,467 european and unknown ancestry cases//45,264 european and unknown ancestry controls; 57,347 european and unknown ancestry cases//219,521 european and unknown ancestry controls(p-value = 6E-14 ;OR = 1.07). 0.4 Association analyses based on false discovery rate implicate new loci for coronary artery disease. genome-wide association analysis NONHSAT115003.2 lncRNA Coronary artery disease 0.451 AGTAAAATAC(A > G)CTTTTTAAAA chr6: 133852013 0.6084,0.3916 0.68530198776758409,0.31469801223241590 Region score:0.35; TSS score:0.63; Unmatched score:0.44; Average GERP:-1.209554455445544 GeneName:LINC01312; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000223586; TranscriptID:ENST00000456347; AnnoType:DOWNSTREAM; mirSVR-Score:-0.7307; mirSVR-E:-10.63 | GeneName:TARID; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000227954; TranscriptID:ENST00000607033; AnnoType:INTRONIC; mirSVR-Score:-0.7307; mirSVR-E:-10.63 | NCRV0000000082 26343387 NONHSAT115003.2 rs12202017 A N/A 42,096 european ancestry cases//361 african american cases//758 hispanic american cases//12,658 south asian ancestry cases//1,802 lebanese ancestry cases//3,614 east asian ancestry cases//99,121 european ancestry controls//2,778 african american controls//3,337 hispanic american controls//12,899 south asian ancestry controls//466 lebanese ancestry controls//7,709 east asian ancestry controls EFO_0000378 N/A Associate Coronary artery disease rs12202017-A of NONHSAT115003.2 is significantly associated with the coronary artery disease by using GWAS analysis in 42,096 european ancestry cases//361 african american cases//758 hispanic american cases//12,658 south asian ancestry cases//1,802 lebanese ancestry cases//3,614 east asian ancestry cases//99,121 european ancestry controls//2,778 african american controls//3,337 hispanic american controls//12,899 south asian ancestry controls//466 lebanese ancestry controls//7,709 east asian ancestry controls(p-value = 2E-11 ;OR = 1.07). 0.4 A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease. genome-wide association analysis NONHSAT115003.2 lncRNA Coronary artery disease 0.451 AGTAAAATAC(A > G)CTTTTTAAAA chr6: 133852013 0.6084,0.3916 0.68530198776758409,0.31469801223241590 Region score:0.35; TSS score:0.63; Unmatched score:0.44; Average GERP:-1.209554455445544 GeneName:LINC01312; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000223586; TranscriptID:ENST00000456347; AnnoType:DOWNSTREAM; mirSVR-Score:-0.7307; mirSVR-E:-10.63 | GeneName:TARID; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000227954; TranscriptID:ENST00000607033; AnnoType:INTRONIC; mirSVR-Score:-0.7307; mirSVR-E:-10.63 | NCRV0000000083 26634245 NONHSAT169584.1 rs144560641 A N/A 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio in copd rs144560641-A of NONHSAT169584.1 is significantly associated with the post bronchodilator fev1/fvc ratio in copd by using GWAS analysis in 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases(p-value = 2E-6 ;OR = 0.055). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT169584.1 lncRNA Pulmonary function measurement 0.33 ACCTGAGACT(G > A)GAGAGATGGA chr14: 85870160 0.995,0.004992 0.99268922018348623,0.00731077981651376 Region score:0.21; TSS score:0.11; Unmatched score:0.01; Average GERP:0.11046534653465331 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000084 25918132 NONHSAT116181.2 rs116146467 A N/A 74 european ancestry cases//824 european ancestry controls EFO_0000270 N/A Associate Diisocyanate-induced asthma rs116146467-A of NONHSAT116181.2 is significantly associated with the diisocyanate-induced asthma by using GWAS analysis in 74 european ancestry cases//824 european ancestry controls(p-value = 9E-7 ;OR = 5.61). 0.4 Genome-Wide Association Study Identifies Novel Loci Associated With Diisocyanate-Induced Occupational Asthma. genome-wide association analysis NONHSAT116181.2 lncRNA Asthma 0.33 TGCCAAATCG(C > A)CGAGAAGCAC chr6: 169157918 0.9609,0.03914 0.96295234454638124,0.03704765545361875 Region score:0.36; TSS score:0.63; Unmatched score:0.63; Average GERP:-1.5105455445544558 GeneName:LINC01615; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000223485; TranscriptID:ENST00000634877; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000813450; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000085 29117387 NONHSAT166293.1 rs75823044 T N/A 5,454 african american cases//474 west african cases//4,274 african american and african ancestry cases//6,328 african american controls//458 west african controls//4,024 african american and african ancestry controls EFO_0001663 N/A Associate Prostate cancer rs75823044-T of NONHSAT166293.1 is significantly associated with the prostate cancer by using GWAS analysis in 5,454 african american cases//474 west african cases//4,274 african american and african ancestry cases//6,328 african american controls//458 west african controls//4,024 african american and african ancestry controls(p-value = 6E-12 ;OR = 1.55). 0.4 Two Novel Susceptibility Loci for Prostate Cancer in Men of African Ancestry.LID - 10.1093/jnci/djx084 [doi]AB - Prostate cancer incidence is 1.6-fold higher in African Americans than in other populations. The risk factors that drive this dispa genome-wide association analysis NONHSAT166293.1 lncRNA Prostate cancer 0.33 ACTACTAAGA(C > T)GGGTGTTAAA chr13: 109708437 0.9894,0.01058 0.99204415137614678,0.00795584862385321 Region score:0.3; TSS score:0.52; Unmatched score:0.25; Average GERP:-1.1878286138613863 GeneName:AL163541.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000285534; TranscriptID:ENST00000650264; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000086 27951730 H19 rs2158394 G N/A 313 AML patients EFO_0000222 N/A no significance for prognosis acute myeloid leukemia rs2158394-G of H19 and its dysfunction is not significantly associated with Acute myeloid leukemia by using analysis of sequence variation in 313 AML patients -0.4 Long non-coding RNA GAS5 polymorphism predicts a poor prognosis of acute myeloid leukemia in Chinese patients via affecting hematopoietic reconstitution. analysis of sequence variation H19 lncRNA Acute myeloid leukemia -0.33 TCCAATCACC(C > A,G,T)CAGCAGGCCC chr11:1998765 0.6422,0.3578 0 Region score:0.28;TSS score:0.45;Unmatched score:0.75;Average GERP:-1.265 GeneName:RF01973; CADD_score:1; Consquence:downstream; GeneID:ENSG00000274866; TranscriptID:ENST00000620857; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01972; CADD_score:1; Consquence:downstream; GeneID:ENSG00000275266; TranscriptID:ENST00000617997; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:H19; CADD_score:1; Consquence:upstream; GeneID:ENSG00000130600; TranscriptID:ENST00000414790; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR675; CADD_score:1; Consquence:upstream; GeneID:ENSG00000284010; TranscriptID:ENST00000390168; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD_score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000035875; AnnoType:RegulatoryFeature; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD_score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000262400; AnnoType:RegulatoryFeature; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000087 22306654 NONHSAT209698.1 rs1208285 C N/A 1,001 european ancestry cases//2,401 european ancestry controls; 796 european ancestry cases//876 european ancestry controls EFO_0004707 N/A Associate Infantile hypertrophic pyloric stenosis rs1208285-C of NONHSAT209698.1 is significantly associated with the infantile hypertrophic pyloric stenosis by using GWAS analysis in 1,001 european ancestry cases//2,401 european ancestry controls; 796 european ancestry cases//876 european ancestry controls(p-value = 6E-7 ;OR = 1.25). 0.4 Common variants near MBNL1 and NKX2-5 are associated with infantile hypertrophic pyloric stenosis. genome-wide association analysis NONHSAT209698.1 lncRNA Infantile hypertrophic pyloric stenosis 0.33 ACTCACGCAA(T > C)CTTTGTCCTC chr6: 133837662 0.738,0.262 0.71513442915392456,0.28486557084607543 Region score:0.28; TSS score:0.29; Unmatched score:0.83; Average GERP:-0.7308970297029701 GeneName:LINC01312; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000223586; TranscriptID:ENST00000456347; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.2624; mirSVR-E:-20.20 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000806019; AnnoType:REGULATORY; mirSVR-Score:-0.2624; mirSVR-E:-20.20 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000806020; AnnoType:REGULATORY; mirSVR-Score:-0.2624; mirSVR-E:-20.20 | GeneName:TARID; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000227954; TranscriptID:ENST00000607033; AnnoType:INTRONIC; mirSVR-Score:-0.2624; mirSVR-E:-20.20 | NCRV0000000088 27027436 H19 rs217727 A Dominant 1,147 patients with colorectal cancer and 1,203 cancer-free controls. in a chinese population. EFO_0005842 N/A No significance for risk Colorectal cancer rs217727-A of H19 and its dysfunction is not significantly associated with colorectal cancer by using case-control analysis in 1,147 patients with colorectal cancer and 1,203 cancer-free controls. in a Chinese population -0.4 Association of genetic variants in lncRNA H19 with risk of colorectal cancer in a Chinese population. case-control analysis H19 lncRNA Colorectal cancer -0.33 TCAACCGTCC(G > A)CCGCAGGGGG chr11: 1995678 N/A 1 Region score:0.7; TSS score:0.82; Unmatched score:0.94; Average GERP:-0.47433900495049497 GeneName:H19; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000130600; TranscriptID:ENST00000414790; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.5598; mirSVR-E:-26.23 | GeneName:LINC01219; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000232987; TranscriptID:ENST00000418612; AnnoType:DOWNSTREAM; mirSVR-Score:-0.5598; mirSVR-E:-26.23 | GeneName:MIR675; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000284010; TranscriptID:ENST00000390168; AnnoType:DOWNSTREAM; mirSVR-Score:-0.5598; mirSVR-E:-26.23 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000035875; AnnoType:REGULATORY; mirSVR-Score:-0.5598; mirSVR-E:-26.23 | GeneName:RF01972; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000275266; TranscriptID:ENST00000617997; AnnoType:UPSTREAM; mirSVR-Score:-0.5598; mirSVR-E:-26.23 | GeneName:RF01973; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000274866; TranscriptID:ENST00000620857; AnnoType:UPSTREAM; mirSVR-Score:-0.5598; mirSVR-E:-26.23 | NCRV0000000089 22778062 SNORD8 rs78204860 G N/a N/a function N/A Significant changes in the structure Function rs78204860-G of SNORD8 and its dysfunction having significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD8 snoRNA Function 0.049 TGAGCCAGTG(A > G)TGAAAACTGG chr14: 100954384 0.9768,0.02316 0.97590946738022426,0.02409053261977573 Region score:0.49; TSS score:0.16; Unmatched score:0.46; Average GERP:-1.4401720000000002 GeneName:MEG8; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000225746; TranscriptID:ENST00000638012; AnnoType:INTRONIC; mirSVR-Score:-0.1246; mirSVR-E:-17.42 | GeneName:RF00181; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000200150; TranscriptID:ENST00000363280; AnnoType:UPSTREAM; mirSVR-Score:-0.1246; mirSVR-E:-17.42 | GeneName:SNORD114-1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000199575; TranscriptID:ENST00000362705; AnnoType:DOWNSTREAM; mirSVR-Score:-0.1246; mirSVR-E:-17.42 | GeneName:SNORD114-2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000200823; TranscriptID:ENST00000363953; AnnoType:DOWNSTREAM; mirSVR-Score:-0.1246; mirSVR-E:-17.42 | GeneName:SNORD114-3; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000201839; TranscriptID:ENST00000364969; AnnoType:DOWNSTREAM; mirSVR-Score:-0.1246; mirSVR-E:-17.42 | GeneName:SNORD114-4; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000200832; TranscriptID:ENST00000363962; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.1246; mirSVR-E:-17.42 | GeneName:SNORD114-5; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000199798; TranscriptID:ENST00000362928; AnnoType:UPSTREAM; mirSVR-Score:-0.1246; mirSVR-E:-17.42 | GeneName:SNORD114-6; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000201263; TranscriptID:ENST00000364393; AnnoType:UPSTREAM; mirSVR-Score:-0.1246; mirSVR-E:-17.42 | NCRV0000000090 18391951 NONHSAT188193.1 rs749052 A N/A 30,968 european ancestry individuals; 8,541 european ancestry individuals EFO_0004339 N/A Associate Height rs749052-A of NONHSAT188193.1 is significantly associated with the height by using GWAS analysis in 30,968 european ancestry individuals; 8,541 european ancestry individuals(p-value = 1E-6 ;OR = 8.7). 0.4 Many sequence variants affecting diversity of adult human height. genome-wide association analysis NONHSAT188193.1 lncRNA Body height 0.451 TCTCCTGAAA(T > C)GATGACCTGT chr2: 231931900 0.9259,0.07408 0.92583301478083588,0.07416698521916411 Region score:0.38; TSS score:0.55; Unmatched score:0.2; Average GERP:-0.7963079207920789 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000090 25282103 NONHSAT188193.1 rs749052 T N/A 253,288 european ancestry individuals; 80,067 european ancestry individuals EFO_0004339 N/A Associate Height rs749052-T of NONHSAT188193.1 is significantly associated with the height by using GWAS analysis in 253,288 european ancestry individuals; 80,067 european ancestry individuals(p-value = 2E-26 ;OR = 0.067). 0.4 Defining the role of common variation in the genomic and biological architecture of adult human height. genome-wide association analysis NONHSAT188193.1 lncRNA Body height 0.451 TCTCCTGAAA(T > C)GATGACCTGT chr2: 231931900 0.9259,0.07408 0.92583301478083588,0.07416698521916411 Region score:0.38; TSS score:0.55; Unmatched score:0.2; Average GERP:-0.7963079207920789 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000091 29059683 NONHSAT213598.1 rs2271032 G N/A 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls EFO_0000305 N/A Associate Breast cancer rs2271032-G of NONHSAT213598.1 is significantly associated with the breast cancer by using GWAS analysis in 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls(p-value = 8E-6 ;OR = 0.0407). 0.4 Association analysis identifies 65 new breast cancer risk loci. genome-wide association analysis NONHSAT213598.1 lncRNA Breast cancer 0.33 TGGAAATGTT(A > G)ACATAACCAG chr7: 69359109 0.8642,0.1358 0.87511149337410805,0.12488850662589194 Region score:0.28; TSS score:0.16; Unmatched score:0.31; Average GERP:-0.20416267326732673 GeneName:AC092100.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000225718; TranscriptID:ENST00000435148; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000827218; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000092 27863252 NONHSAT142350.2 rs535680968 CT N/A 170,536 european ancestry individuals EFO_0007996 N/A Associate Eosinophil percentage of granulocytes rs535680968-CT of NONHSAT142350.2 is significantly associated with the eosinophil percentage of granulocytes by using GWAS analysis in 170,536 european ancestry individuals(p-value = 6E-11 ;OR = 0.02623913). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT142350.2 lncRNA Eosinophil percentage of granulocytes 0.33 TACTTATTTA(C > CT,CTT,CTTT)TTTTTTTTTT chr16: 48622152 0.5899,0.4101,.,. 0.57713748725790010,0.38292399337410805,0.03986684505606523,0.00007167431192660 N/A GeneName:AC007611.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000260086; TranscriptID:ENST00000564212; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC023813.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000259912; TranscriptID:ENST00000565055; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:N4BP1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000102921; TranscriptID:ENST00000564124; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000093 26198764 NONHSAT205566.1 rs75094680 A N/A 1,505 ashkenazi jewish founder cases//2,553 ashkenazi jewish founder controls EFO_0000692 N/A Associate Schizophrenia rs75094680-A of NONHSAT205566.1 is significantly associated with the schizophrenia by using GWAS analysis in 1,505 ashkenazi jewish founder cases//2,553 ashkenazi jewish founder controls(p-value = 7E-6 ;OR = 3.5714285). 0.4 Genome-wide association study of schizophrenia in Ashkenazi Jews. genome-wide association analysis NONHSAT205566.1 lncRNA Schizophrenia 0.33 ATTTCCTCAC(G > A,T)CATAGCCTTT chr5: 30558030 0.9952,0.004792,. 0.99103274719673802,0.00895928899082568,0.00000796381243628 Region score:0.3; TSS score:0.17; Unmatched score:0.01; Average GERP:-0.5705336999999999 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000094 26621817 NONHSAT159414.1 rs606460 G N/A 5,725 european ancestry colorectal carcinoma cases//2,212 european ancestry endometrial carcinoma cases//13,396 european ancestry controls EFO_1001512 N/A Associate Colorectal or endometrial cancer rs606460-G of NONHSAT159414.1 is significantly associated with the colorectal or endometrial cancer by using GWAS analysis in 5,725 european ancestry colorectal carcinoma cases//2,212 european ancestry endometrial carcinoma cases//13,396 european ancestry controls(p-value = 4E-6 ;OR = 1.11). 0.4 Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1. genome-wide association analysis NONHSAT159414.1 lncRNA Endometrial cancer 0.33 CGAGGCCTCT(A > C,G)TCCACTCATT chr11: 75537412 0.387,.,0.613 0.34556574923547400,0.00001592762487257,0.65441832313965341 Region score:0.49; TSS score:0.45; Unmatched score:0.56; Average GERP:-0.3426469306930694 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000435805; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000095 28654678 NONHSAT124497.2 rs6459788 ? N/A 389 east asian ancestry individuals//189 south asian ancestry individuals//492 european ancestry individuals//467 sub-saharan african ancestry individuals//59 african american individuals//157 hispanic/latino individuals EFO_0000769 N/A Associate Epstein-barr virus copy number in lymphoblastoid cell lines rs6459788-? of NONHSAT124497.2 is significantly associated with the epstein-barr virus copy number in lymphoblastoid cell lines by using GWAS analysis in 389 east asian ancestry individuals//189 south asian ancestry individuals//492 european ancestry individuals//467 sub-saharan african ancestry individuals//59 african american individuals//157 hispanic/latino individuals(p-value = 7E-6 ;OR = ?). 0.4 Genetic factors affecting EBV copy number in lymphoblastoid cell lines derived from the 1000 Genome Project samples. genome-wide association analysis NONHSAT124497.2 lncRNA Epstein-barr virus infection 0.33 CACTTAACCC(G > A)AACCAAAGCG chr7: 157467496 0.471,0.529 0.48311671763506625,0.51688328236493374 Region score:0.28; TSS score:0.31; Unmatched score:0.58; Average GERP:-0.4538149504950494 GeneName:AC006372.3; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000234210; TranscriptID:ENST00000444158; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000096 28429243 NONHSAT129504.2 rs6988985 C N/A 707 european ancestry postmenopausal cases//52 african ancestry postmenopausal cases//15 asian ancestry postmenopausal cases EFO_0007972 N/A Associate Plasma androstenedione levels in resected early stage-receptor positive breast cancer rs6988985-C of NONHSAT129504.2 is significantly associated with the plasma androstenedione levels in resected early stage-receptor positive breast cancer by using GWAS analysis in 707 european ancestry postmenopausal cases//52 african ancestry postmenopausal cases//15 asian ancestry postmenopausal cases(p-value = 7E-7 ;OR = 0.25). 0.4 SLCO1B1 polymorphisms and plasma estrone conjugates in postmenopausal women with ER+ breast cancer: genome-wide association studies of the estrone pathway. genome-wide association analysis NONHSAT129504.2 lncRNA Androstenedione measurement 0.33 GCCCGTGTGG(T > C)GGGGCTTGGG chr8: 142925688 0.4121,0.5879 0.40881434760448521,0.59118565239551478 Region score:0.36; TSS score:0.34; Unmatched score:0.21; Average GERP:-0.2569603960396042 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000097 30219045 H19 rs17658052 A N/a 556 female never smoking lung cancer patients and 395 cancer-free controls EFO_0001071 N/A No significance for risk Lung cancer rs17658052-A of H19 and its dysfunction is not significantly associated with lung cancer by using case-control analysis in 556 female never smoking lung cancer patients and 395 cancer-free controls. -0.4 Polymorphisms in the H19 gene and the risk of lung Cancer among female never smokers in Shenyang, China. case-control analysis H19 lncRNA Lung cancer -0.33 TCCACAAACC(G > A)CGGGATGTCT chr11: 2001669 0.9379,0.0621 0.94952535677879714,0.05047464322120285 Region score:0.52; TSS score:0.64; Unmatched score:0.77; Average GERP:-1.6114425742574254 GeneName:H19; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000130600; TranscriptID:ENST00000414790; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR675; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284010; TranscriptID:ENST00000390168; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000421503; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01973; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000274866; TranscriptID:ENST00000620857; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000098 27694959 NONHSAT058426.2 rs113062739 A N/A 984 european ancestry individuals; 530 european ancestry individuals EFO_0007874 N/A Associate Gut microbiota (functional units) rs113062739-A of NONHSAT058426.2 is significantly associated with the gut microbiota (functional units) by using GWAS analysis in 984 european ancestry individuals; 530 european ancestry individuals(p-value = 3E-8 ;OR = 5.535196). 0.4 The effect of host genetics on the gut microbiome. genome-wide association analysis NONHSAT058426.2 lncRNA Gut microbiome measurement 0.33 AATTTTTGAG(G > A)CTTTCTACAT chr18: 13329916 0.9477,0.05232 0.93976172273190621,0.06023827726809378 Region score:0.2; TSS score:0.08; Unmatched score:0.03; Average GERP:-0.08660396039603949 GeneName:LDLRAD4; CADD-Score:2; Consquence:intron; GeneID:ENSG00000168675; TranscriptID:ENST00000359446; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000099 21971053 NONHSAT130433.2 rs944797 C N/A 806 japanese ancestry cases//1,337 japanese ancestry controls; 3,593 japanese ancestry cases//6,335 japanese ancestry controls EFO_0001645 N/A Associate Coronary heart disease rs944797-C of NONHSAT130433.2 is significantly associated with the coronary heart disease by using GWAS analysis in 806 japanese ancestry cases//1,337 japanese ancestry controls; 3,593 japanese ancestry cases//6,335 japanese ancestry controls(p-value = 6E-16 ;OR = 1.25). 0.4 Genome-wide association study of coronary artery disease in the Japanese. genome-wide association analysis NONHSAT130433.2 lncRNA Coronary heart disease 0.33 GAGGGAAGAC(T > C)GGGGAAGGTG chr9: 22115287 0.513,0.487 0.50762933231396534,0.49237066768603465 Region score:0.25; TSS score:0.26; Unmatched score:0.21; Average GERP:-0.13267312871287132 GeneName:CDKN2B-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000240498; TranscriptID:ENST00000428597; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000877604; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01909; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277653; TranscriptID:ENST00000617921; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000100 24205249 miR-26A-1 rs7372209 T Dominant In the black ancestry group, 368 cases and 583 controls were recruited, whereas 197 cases and 420 controls were of mixed ancestry. EFO_0005922 N/A Decreasing risk Esophageal squamous cell carcinoma rs7372209-T of miR-26A-1 and its dysfunction is significantly associated with the decreasing risk of esophageal squamous cell carcinoma by using case-control analysis in In the Black ancestry group, 368 cases and 583 controls were recruited, whereas 197 cases and 420 controls were of Mixed Ancestry. . 0.4 MicroRNA polymorphisms and environmental smoke exposure as risk factors for oesophageal squamous cell carcinoma. case-control analysis hsa-mir-26a-1 miRNA Esophageal squamous cell cancer 0.33 ATTAATCCTT(T > C)GTACCACGTG chr3: 37969217 0.2015,0.7985 0.21918800968399592,0.78081199031600407 Region score:0.25; TSS score:0.19; Unmatched score:0.58; Average GERP:0.42166831683168315 GeneName:CTDSPL; CADD-Score:2; Consquence:intron; GeneID:ENSG00000144677; TranscriptID:ENST00000273179; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR26A1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000199075; TranscriptID:ENST00000362205; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000682913; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000101 23555923 hsa-mir-423 rs6505162 A N/A 191 patients with TNBC and 192 healthy female controls EFO_0005537 N/A no significance for risk triple-negative breast cancer rs6505162-A of hsa-mir-423 and its dysfunction is not significantly associated with Triple-negative breast cancer by using case-control analysis in 191 patients with TNBC and 192 healthy female controls -0.4 There is no association between microRNA gene polymorphisms and risk of triple negative breast cancer in a Chinese Han population. case-control analysis hsa-mir-423 miRNA Triple-negative breast cancer -0.33 TTGCTTCCTA(A > C,T)CCCGCGCTTG chr17: 30117165 0.5022,0.4978,. 0.57055937818552497,0.42940876656472986,0.00003185524974515 Region score:0.43; TSS score:0.32; Unmatched score:0.93; Average GERP:3.269841584158416 GeneName:AC104984.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000265394; TranscriptID:ENST00000582938; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC104984.5; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000266919; TranscriptID:ENST00000586878; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3184; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284399; TranscriptID:ENST00000637796; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR423; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000283935; TranscriptID:ENST00000362201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000092957; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NSRP1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000126653; TranscriptID:ENST00000247026; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000102 28199695 NONHSAT060713.2 rs778798 C N/A 69,057 european ancestry individuals without immune related conditions EFO_0008377 N/A Associate Itch intensity from mosquito bite adjusted by bite size rs778798-C of NONHSAT060713.2 is significantly associated with the itch intensity from mosquito bite adjusted by bite size by using GWAS analysis in 69,057 european ancestry individuals without immune related conditions(p-value = 5E-8 ;OR = 0.0215724). 0.4 GWAS of self-reported mosquito bite size, itch intensity and attractiveness to mosquitoes implicates immune-related predisposition loci. genome-wide association analysis NONHSAT060713.2 lncRNA Mosquito bite reaction itch intensity measurement 0.33 GGTGGCCTCA(A > C)CAAGCCCCTC chr19: 5839602 0.1671,0.8329 0.17967157237512742,0.82032842762487257 Region score:0.55; TSS score:0.74; Unmatched score:0.94; Average GERP:-0.48882079207920853 GeneName:FUT3; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000171124; TranscriptID:ENST00000303225; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:FUT6; CADD-Score:3; Consquence:5_prime_UTR; GeneID:ENSG00000156413; TranscriptID:ENST00000318336; AnnoType:5PRIME_UTR; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000583179; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000103 21996275 miR-184 chr15:79502186 T Dominant familial keratoconus with cataract Orphanet_293936 N/A increasing risk EDICT syndrome chr15:79502186-T of hsa-mir-184 and its dysfunction is significantly associated with the increasing risk of Edict syndrome by using Pedigree analysis in familial keratoconus with cataract 0.9 Mutation altering the miR-184 seed region causes familial keratoconus with cataract. Pedigree analysis hsa-mir-184 miRNA Edict syndrome 0.667 - - - - - - NCRV0000000103 22131394 miR-184 chr15:79502186 T Dominant 10 individuals affected by syndromal anterior segment dysgenesis Orphanet_293936 N/A Increasing risk Endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning (edict syndrome) chr15:79502186-T of miR-184 and its dysfunction is significantly associated with the increasing risk of endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning (EDICT syndrome) by using analysis of sequence variation in 10 individuals affected by syndromal anterior segment dysgenesis. 0.4 A single-base substitution in the seed region of miR-184 causes EDICT syndrome. analysis of sequence variation hsa-mir-184 miRNA Edict syndrome 0.667 N/A N/A N/A N/A N/A N/A NCRV0000000104 25224557 19p13 rs10773338 A N/A 1015 ethnic Han Chinese patients with prostate cancer and 1032 cancer-free controls EFO_0001663 N/A no significance for risk prostate carcinoma rs10773338-A of 19p13 and its dysfunction is not significantly associated with Prostate carcinoma by using case-control analysis in 1015 ethnic Han Chinese patients with prostate cancer and 1032 cancer-free controls -0.4 Polymorphisms at long non-coding RNAs and prostate cancer risk in an eastern Chinese population. case-control analysis 19p13 Noncoding region Prostate carcinoma -0.33 TATTTTGCTC(G > A,T)TTTTACTGTA chr12: 126919857 0.4583,0.5417,. 0.36925809123343527,0.63060652395514780,0.00013538481141692 Region score:0.08; TSS score:0.03; Unmatched score:0; Average GERP:-0.09868316831683176 GeneName:LINC02405; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000249345; TranscriptID:ENST00000512624; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000105 27400856 NONHSAT027238.2 rs149104283 T N/A 48 european ancestry cases//18 european ancestry extreme cases//5,583 european ancestry controls; 161 cases//249 clozapine-exposed controls//947 unexposed controls HP_0012235 in treatment-resistant schizophrenia Associate Clozapine-induced agranulocytosis rs149104283-T of NONHSAT027238.2 is significantly associated with the clozapine-induced agranulocytosis by using GWAS analysis in 48 european ancestry cases//18 european ancestry extreme cases//5,583 european ancestry controls; 161 cases//249 clozapine-exposed controls//947 unexposed controls(p-value = 2E-8 ;OR = 4.3198). 0.4 Genome-wide common and rare variant analysis provides novel insights into clozapine-associated neutropenia. genome-wide association analysis NONHSAT027238.2 lncRNA Drug-induced agranulocytosis 0.33 TCCAAGTGTT(C > G,T)TCATTGTTCA chr12: 20930928 0.9918,.,0.008187 0.98750477828746177,0.00000796381243628,0.01248725790010193 Region score:0.32; TSS score:0.2; Unmatched score:0.06; Average GERP:-0.27423333333333333 GeneName:AC011604.2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000257046; TranscriptID:ENST00000540229; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000106 24888363 MIR137 rs1553269376 ? Dominant 345 BD patients, 426 SZ patients and 1376 healthy individuals, all unrelated, in V?sterbotten region of Northern Sweden EFO_0000289 N/A increasing risk bipolar disorder rs1553269376-? of hsa-mir-137 and its dysfunction is significantly associated with the increasing risk of Bipolar disorder by using case-control analysis in 345 BD patients, 426 SZ patients and 1376 healthy individuals, all unrelated, in V?sterbotten region of Northern Sweden 0.9 MIR137 variants identified in psychiatric patients affect synaptogenesis and neuronal transmission gene sets. case-control analysis hsa-mir-137 miRNA Bipolar disorder 0.593 - chr1:98046174 - - - - NCRV0000000107 23446634 NONHSAT139199.2 rs1050828 T N/A up to 16,485 african american individuals; 9,692 african american individuals//21,020 european ancestry individuals//14,088 japanese ancestry individuals EFO_0004305 N/A Associate Red blood cell traits rs1050828-T of NONHSAT139199.2 is significantly associated with the red blood cell traits by using GWAS analysis in up to 16,485 african american individuals; 9,692 african american individuals//21,020 european ancestry individuals//14,088 japanese ancestry individuals(p-value = 4E-19 ;OR = 0.108). 0.4 Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network. genome-wide association analysis NONHSAT139199.2 lncRNA Erythrocyte count 0.52 GCATAGCCCA(C > T)GATGAAGGTG chrX: 154536002 0.9624,0.03762 0.96296030835881753,0.03703969164118246 Region score:0.58; TSS score:0.29; Unmatched score:0.65; Average GERP:2.551158415841584 GeneName:G6PD; CADD-Score:7; Consquence:missense; GeneID:ENSG00000160211; TranscriptID:ENST00000621232; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000107 28453575 NONHSAT139199.2 rs1050828 C N/A 12,502 hispanic/latino individuals; 4,772 hispanic/latino individuals EFO_0004305 N/A Associate Red blood cell count rs1050828-C of NONHSAT139199.2 is significantly associated with the red blood cell count by using GWAS analysis in 12,502 hispanic/latino individuals; 4,772 hispanic/latino individuals(p-value = 2E-18 ;OR = 0.13). 0.4 Genome-wide association study of red blood cell traits in Hispanics/Latinos: The Hispanic Community Health Study/Study of Latinos. genome-wide association analysis NONHSAT139199.2 lncRNA Erythrocyte count 0.52 GCATAGCCCA(C > T)GATGAAGGTG chrX: 154536002 0.9624,0.03762 0.96296030835881753,0.03703969164118246 Region score:0.58; TSS score:0.29; Unmatched score:0.65; Average GERP:2.551158415841584 GeneName:G6PD; CADD-Score:7; Consquence:missense; GeneID:ENSG00000160211; TranscriptID:ENST00000621232; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000107 23696099 NONHSAT139199.2 rs1050828 A N/A 1904 african american individuals; 411 african american individuals EFO_0004305 N/A Associate Red blood cell traits rs1050828-A of NONHSAT139199.2 is significantly associated with the red blood cell traits by using GWAS analysis in 1904 african american individuals; 411 african american individuals(p-value = 4E-13 ;OR = 0.2). 0.4 Genetic variants that confer resistance to malaria are associated with red blood cell traits in African-Americans: an electronic medical record-based genome-wide association study. genome-wide association analysis NONHSAT139199.2 lncRNA Erythrocyte count 0.52 GCATAGCCCA(C > T)GATGAAGGTG chrX: 154536002 0.9624,0.03762 0.96296030835881753,0.03703969164118246 Region score:0.58; TSS score:0.29; Unmatched score:0.65; Average GERP:2.551158415841584 GeneName:G6PD; CADD-Score:7; Consquence:missense; GeneID:ENSG00000160211; TranscriptID:ENST00000621232; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000108 21804548 NONHSAT207123.1 rs7775228 A N/A 1,532 japanese ancestry cases//3,304 japanese ancestry controls; 5,639 japanese ancestry cases//24,608 japanese ancestry controls EFO_0000270 N/A Associate Asthma rs7775228-A of NONHSAT207123.1 is significantly associated with the asthma by using GWAS analysis in 1,532 japanese ancestry cases//3,304 japanese ancestry controls; 5,639 japanese ancestry cases//24,608 japanese ancestry controls(p-value = 5E-15 ;OR = 1.17). 0.4 Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population. genome-wide association analysis NONHSAT207123.1 lncRNA Asthma 0.33 CTAGGCAAGA(T > C)TGTGATTGAA chr6: 32690302 0.7861,0.2139 0.84386149337410805,0.15613850662589194 Region score:0.29; TSS score:0.39; Unmatched score:0.39; Average GERP:-0.010510891089108914 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000109 26604143 NONHSAT153774.1 rs2590942 T N/A 34,744 european ancestry children; 11,313 european ancestry children EFO_0001073 N/A Associate Childhood body mass index rs2590942-T of NONHSAT153774.1 is significantly associated with the childhood body mass index by using GWAS analysis in 34,744 european ancestry children; 11,313 european ancestry children(p-value = 2E-7 ;OR = 0.047). 0.4 Genome-wide association analysis identifies three new susceptibility loci for childhood body mass index. genome-wide association analysis NONHSAT153774.1 lncRNA Obesity 0.33 ATGTGTGTGT(T > G)TCATTCTCCT chr1: 72419598 0.899,0.101 0.85297209480122324,0.14702790519877675 Region score:0.33; TSS score:0.28; Unmatched score:0.03; Average GERP:-0.37076188118811804 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000110 25990418 NONHSAT041524.2 rs2293582 A N/A 7,577 european ancestry cases//9,979 european ancestry controls EFO_0005842 N/A Associate Colorectal cancer rs2293582-A of NONHSAT041524.2 is significantly associated with the colorectal cancer by using GWAS analysis in 7,577 european ancestry cases//9,979 european ancestry controls(p-value = 3E-11 ;OR = 1.21). 0.4 A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer. genome-wide association analysis NONHSAT041524.2 lncRNA Colorectal cancer 0.33 AGGGAAGAGG(G > A)CCGCAAACCA chr15: 32718211 0.7316,0.2684 0.79572821100917431,0.20427178899082568 Region score:0.2; TSS score:0.42; Unmatched score:0.91; Average GERP:-0.9000405940594058 GeneName:AC090877.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000259721; TranscriptID:ENST00000558441; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GREM1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000166923; TranscriptID:ENST00000622074; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000511774; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000111 26152337 hsa-mir-559 rs58450758 T N/A 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A no significance for risk hepatocellular carcinoma rs58450758-T of hsa-mir-559 and its dysfunction is not significantly associated with Hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors -0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. case-control analysis hsa-mir-559 miRNA Hepatocellular carcinoma -0.33 TTGGTAAATA(C > T)AGTTTTGGTG chr2: 47377727 0.7909,0.2091 0.83053007135575942,0.16946992864424057 Region score:0.19; TSS score:0.06; Unmatched score:0.34; Average GERP:-0.4205217821782178 GeneName:EPCAM; CADD-Score:2; Consquence:intron; GeneID:ENSG00000119888; TranscriptID:ENST00000263735; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR559; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207923; TranscriptID:ENST00000385188; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000112 27702941 NONHSAT213219.1 rs11400459 A N/A 9,054 european ancestry individuals; 822 european ancestry individuals EFO_0007872 N/A Associate Caffeine metabolism (plasma 1,3,7-trimethylxanthine (caffeine) level) rs11400459-A of NONHSAT213219.1 is significantly associated with the caffeine metabolism (plasma 1,3,7-trimethylxanthine (caffeine) level) by using GWAS analysis in 9,054 european ancestry individuals; 822 european ancestry individuals(p-value = 6E-6 ;OR = 4.52). 0.4 Genome-wide association study of caffeine metabolites provides new insights to caffeine metabolism and dietary caffeine-consumption behavior. genome-wide association analysis NONHSAT213219.1 lncRNA Caffeine metabolite measurement 0.33 GATGTGTCTA(A > AT)TTTAGTCTTT chr7: 17345882 0.524,0.476 0.48073553771661569,0.51926446228338430 N/A GeneName:AC019117.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000283321; TranscriptID:ENST00000637807; AnnoType:INTRONIC; mirSVR-Score:-0.3613; mirSVR-E:-9.36 | GeneName:AHR; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000106546; TranscriptID:ENST00000242057; AnnoType:3PRIME_UTR; mirSVR-Score:-0.3613; mirSVR-E:-9.36 | NCRV0000000113 25673413 NONHSAT172850.1 rs4787491 G N/A up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals EFO_0001073 N/A Associate Body mass index rs4787491-G of NONHSAT172850.1 is significantly associated with the body mass index by using GWAS analysis in up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals(p-value = 2E-6 ;OR = 0.015). 0.4 Genetic studies of body mass index yield new insights for obesity biology. genome-wide association analysis NONHSAT172850.1 lncRNA Obesity 0.451 AGATGAGGGT(A > G)AGTGAGGGCT chr16: 30004016 0.5162,0.4838 0.48349898063200815,0.51650101936799184 Region score:0.1; TSS score:0.16; Unmatched score:0.35; Average GERP:-0.5581762886597939 GeneName:DOC2A; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000149927; TranscriptID:ENST00000350119; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:INO80E; CADD-Score:2; Consquence:intron; GeneID:ENSG00000169592; TranscriptID:ENST00000563197; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000113 28443625 NONHSAT172850.1 rs4787491 A N/A 98,173 european ancestry women//64,373 european ancestry men//5,829 european ancestry individuals//10,500 african american/afro-caribbean ancestry women//2,706 african american/afro-caribbean ancestry men//1,030 indian asian ancestry women//7,648 indian asian ancestry men//1,793 filipino ancestry women//2,944 hispanic/latino ancestry women//1,764 hispanic/latino ancestry men; 21,496 european ancestry women//24,385 european ancestry men//118,364 european ancestry individuals//2,326 african american/afro-caribbean ancestry women//855 african american/afro-caribbean ancestry men EFO_0001073 adjusted for smoking behaviour Associate Bmi (adjusted for smoking behaviour) rs4787491-A of NONHSAT172850.1 is significantly associated with the bmi (adjusted for smoking behaviour) by using GWAS analysis in 98,173 european ancestry women//64,373 european ancestry men//5,829 european ancestry individuals//10,500 african american/afro-caribbean ancestry women//2,706 african american/afro-caribbean ancestry men//1,030 indian asian ancestry women//7,648 indian asian ancestry men//1,793 filipino ancestry women//2,944 hispanic/latino ancestry women//1,764 hispanic/latino ancestry men; 21,496 european ancestry women//24,385 european ancestry men//118,364 european ancestry individuals//2,326 african american/afro-caribbean ancestry women//855 african american/afro-caribbean ancestry men(p-value = 2E-9 ;OR = 0.0201). 0.4 Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits. genome-wide association analysis NONHSAT172850.1 lncRNA Obesity 0.451 AGATGAGGGT(A > G)AGTGAGGGCT chr16: 30004016 0.5162,0.4838 0.48349898063200815,0.51650101936799184 Region score:0.1; TSS score:0.16; Unmatched score:0.35; Average GERP:-0.5581762886597939 GeneName:DOC2A; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000149927; TranscriptID:ENST00000350119; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:INO80E; CADD-Score:2; Consquence:intron; GeneID:ENSG00000169592; TranscriptID:ENST00000563197; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000114 22829776 NONHSAT054532.2 rs2411984 A N/A 21,791 european ancestry individuals; 8,175 european ancestry individuals EFO_0004696 N/A Associate Sex hormone-binding globulin levels rs2411984-A of NONHSAT054532.2 is significantly associated with the sex hormone-binding globulin levels by using GWAS analysis in 21,791 european ancestry individuals; 8,175 european ancestry individuals(p-value = 2E-10 ;OR = 0.034). 0.4 A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation. genome-wide association analysis NONHSAT054532.2 lncRNA Sex hormone-binding globulin measurement 0.33 CCGCCTCAAT(G > A)ATAAATAAAT chr17: 49368389 0.6681,0.3319 0.77522139398572884,0.22477860601427115 Region score:0.21; TSS score:0.15; Unmatched score:0.06; Average GERP:0.017445544554455426 GeneName:AC091180.2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000248714; TranscriptID:ENST00000507337; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC091180.5; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000262039; TranscriptID:ENST00000576461; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000283661; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000115 27863252 NONHSAT180490.1 rs45474992 T N/A 170,721 european ancestry individuals EFO_0005091 N/A Associate Monocyte count rs45474992-T of NONHSAT180490.1 is significantly associated with the monocyte count by using GWAS analysis in 170,721 european ancestry individuals(p-value = 3E-9 ;OR = 0.05763828). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT180490.1 lncRNA Monocyte count 0.33 CTCTCTGGCT(C > T)CAGGAGGCTA chr19: 47221307 0.9854,0.01458 0.97788449286442405,0.02211550713557594 Region score:0.6; TSS score:0.78; Unmatched score:0.88; Average GERP:1.6653207920792072 GeneName:BBC3; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000105327; TranscriptID:ENST00000449228; AnnoType:3PRIME_UTR; mirSVR-Score:-0.4645; mirSVR-E:-20.38 | NCRV0000000116 29064472 NONHSAT100807.2 rs11951177 A N/A 114 african ancestry schizophrenia cases//69 african schizo-affective cases//41 african ancestry bipolar disorder cases//76 african ancestry controls//116 european ancestry schizophrenia cases//86 european ancestry schizo-affective cases//165 european ancestry bipolar disorder cases//182 european ancestry controls EFO_0008434 N/A Associate Initial pursuit acceleration rs11951177-A of NONHSAT100807.2 is significantly associated with the initial pursuit acceleration by using GWAS analysis in 114 african ancestry schizophrenia cases//69 african schizo-affective cases//41 african ancestry bipolar disorder cases//76 african ancestry controls//116 european ancestry schizophrenia cases//86 european ancestry schizo-affective cases//165 european ancestry bipolar disorder cases//182 european ancestry controls(p-value = 4E-6 ;OR = ?). 0.4 Genome-wide association studies of smooth pursuit and antisaccade eye movements in psychotic disorders: findings from the B-SNIP study. genome-wide association analysis NONHSAT100807.2 lncRNA Initial pursuit acceleration 0.33 TTTGATTTTT(G > A,T)CCCTTTCCCT chr5: 27486924 0.7572,0.2428,. 0.73832505096839959,0.26166698521916411,0.00000796381243628 Region score:0.4; TSS score:0.16; Unmatched score:0.15; Average GERP:-0.5601851485148513 GeneName:PURPL; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250337; TranscriptID:ENST00000512067; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000117 25673412 NONHSAT186577.1 rs6755502 T N/A up to 56,910 european ancestry men//up to 86,570 european ancestry women; up to 36,570 european ancestry men//30,172 european ancestry women//915 filipino ancestry men//735 filipino ancestry women//2,351 african american/afro-caribbean ancestry men//6,258 african american/afro-caribbean ancestry women//2,285 south asian ancestry men//506 south asian ancestry women//195 seychellois ancestry men//266 seychellois ancestry women EFO_0004342 N/A Associate Waist circumference rs6755502-T of NONHSAT186577.1 is significantly associated with the waist circumference by using GWAS analysis in up to 56,910 european ancestry men//up to 86,570 european ancestry women; up to 36,570 european ancestry men//30,172 european ancestry women//915 filipino ancestry men//735 filipino ancestry women//2,351 african american/afro-caribbean ancestry men//6,258 african american/afro-caribbean ancestry women//2,285 south asian ancestry men//506 south asian ancestry women//195 seychellois ancestry men//266 seychellois ancestry women(p-value = 2E-15 ;OR = 0.0492). 0.4 New genetic loci link adipose and insulin biology to body fat distribution. genome-wide association analysis NONHSAT186577.1 lncRNA Waist circumference 0.33 TATAATCCTC(T > C)TATTGACGGT chr2: 635721 0.1224,0.8776 0.14733053007135575,0.85266946992864424 Region score:0.29; TSS score:0.36; Unmatched score:0.16; Average GERP:-0.28546950495049506 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000118 27374108 miR-30a rs763354 A Dominant 1341 non-small cell lung cancer (NSCLC) cases and 1982 controls EFO_0003060 N/A decreasing risk non-small cell lung carcinoma rs763354-A of hsa-mir-30a and its dysfunction is significantly associated with the decreasing risk of Non-small cell lung carcinoma by using case-control analysis in 1341 non-small cell lung cancer (NSCLC) cases and 1982 controls 0.4 Genetic variants in regulatory regions of microRNAs are associated with lung cancer risk. case-control analysis hsa-mir-30a miRNA Non-small cell lung carcinoma 0.33 AGAATAAGAT(C > T)CAATTGTGTT chr6: 71405918 0.8141,0.1859 0.88050299439347604,0.11949700560652395 Region score:0.3; TSS score:0.26; Unmatched score:0.36; Average GERP:-0.17080198019801984 GeneName:AL136164.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000269966; TranscriptID:ENST00000602823; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LINC00472; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000233237; TranscriptID:ENST00000413945; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR30A; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207827; TranscriptID:ENST00000385092; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000119 26053186 NONHSAT162396.1 rs57514780 ? N/A 362 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//438 european ancestry current smoker individuals//449 latino current smoker individuals//704 japanese ancestry current smoker individuals EFO_0001071 in smokers Associate 3-hydroxypropylmercapturic acid levels in smokers rs57514780-? of NONHSAT162396.1 is significantly associated with the 3-hydroxypropylmercapturic acid levels in smokers by using GWAS analysis in 362 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//438 european ancestry current smoker individuals//449 latino current smoker individuals//704 japanese ancestry current smoker individuals(p-value = 1E-7 ;OR = 0.3512). 0.4 Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer. genome-wide association analysis NONHSAT162396.1 lncRNA Lung cancer 0.33 AGTGTCTCTC(T > C)CATAGCCCCC chr12: 69004009 0.9403,0.0597 0.94994743883792048,0.05005256116207951 Region score:0.31; TSS score:0.27; Unmatched score:0.13; Average GERP:-0.6283698019801981 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000461737; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000120 22331829 NONHSAT107892.2 rs6924995 ? N/A 6,989 european ancestry individuals EFO_0007804 N/A Associate Response to statins (ldl cholesterol change) rs6924995-? of NONHSAT107892.2 is significantly associated with the response to statins (ldl cholesterol change) by using GWAS analysis in 6,989 european ancestry individuals(p-value = 5E-7 ;OR = 4.1). 0.4 Genetic determinants of statin-induced low-density lipoprotein cholesterol reduction: the Justification for the Use of Statins in Prevention: an Intervention Trial Evaluating Rosuvastatin (JUPITER) trial. genome-wide association analysis NONHSAT107892.2 lncRNA Ldl cholesterol change measurement 0.33 AGGAGTGACT(A > G)GAGCCTCTCG chr6: 16161194 0.5539,0.4461 0.63195240825688073,0.36804759174311926 Region score:0.32; TSS score:0.09; Unmatched score:0.4; Average GERP:-0.07217821782178216 GeneName:AL021407.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000217078; TranscriptID:ENST00000404531; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AL021407.3; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000218073; TranscriptID:ENST00000407522; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000121 23319000 NONHSAT106509.2 rs2569872 C N/A up to 398 european ancestry individuals EFO_0005133 N/A Associate Metabolite levels (hva/mhpg ratio) rs2569872-C of NONHSAT106509.2 is significantly associated with the metabolite levels (hva/mhpg ratio) by using GWAS analysis in up to 398 european ancestry individuals(p-value = 8E-6 ;OR = 0.2821). 0.4 Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid. genome-wide association analysis NONHSAT106509.2 lncRNA Mhpg measurement 0.33 CTGCCGTTCT(G > A,C)TTCCGCGTTG chr6: 1524335 0.9169,.,0.08307 0.91060620540265035,0.00011945718654434,0.08927433741080530 Region score:0.35; TSS score:0.44; Unmatched score:0.44; Average GERP:-0.17375247524752474 GeneName:AL512329.2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000272279; TranscriptID:ENST00000607350; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000319127; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000122 29064472 NONHSAT168969.1 rs3783364 G N/A 114 african ancestry schizophrenia cases//69 african schizo-affective cases//41 african ancestry bipolar disorder cases//76 african ancestry controls//116 european ancestry schizophrenia cases//86 european ancestry schizo-affective cases//165 european ancestry bipolar disorder cases//182 european ancestry controls EFO_0000677 N/A Associate Anti-saccade response rs3783364-G of NONHSAT168969.1 is significantly associated with the anti-saccade response by using GWAS analysis in 114 african ancestry schizophrenia cases//69 african schizo-affective cases//41 african ancestry bipolar disorder cases//76 african ancestry controls//116 european ancestry schizophrenia cases//86 european ancestry schizo-affective cases//165 european ancestry bipolar disorder cases//182 european ancestry controls(p-value = 8E-6 ;OR = ?). 0.4 Genome-wide association studies of smooth pursuit and antisaccade eye movements in psychotic disorders: findings from the B-SNIP study. genome-wide association analysis NONHSAT168969.1 lncRNA Mental or behavioural disorder 0.33 GCCAGTCTAG(C > G)CCTTCCACGT chr14: 101884215 0.8672,0.1328 0.86508505351681957,0.13491494648318042 Region score:0.08; TSS score:0.05; Unmatched score:0.07; Average GERP:-0.18389108910891097 GeneName:PPP2R5C; CADD-Score:2; Consquence:intron; GeneID:ENSG00000078304; TranscriptID:ENST00000422945; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000123 26545240 NONHSAT193321.1 rs7290192 A N/A 793 african american cases//948 african american controls//606 hispanic cases//305 hispanic controls EFO_0004710 N/A Associate Pelvic organ prolapse rs7290192-A of NONHSAT193321.1 is significantly associated with the pelvic organ prolapse by using GWAS analysis in 793 african american cases//948 african american controls//606 hispanic cases//305 hispanic controls(p-value = 7E-6 ;OR = 1.754386). 0.4 Genetic Determinants of Pelvic Organ Prolapse among African American and Hispanic Women in the Women's Health Initiative. genome-wide association analysis NONHSAT193321.1 lncRNA Pelvic organ prolapse 0.33 TCTGGAGGTG(A > T)AGCCCAGGCA chr22: 48922714 0.8926,0.1074 0.88504236748216106,0.11495763251783893 Region score:0.14; TSS score:0.13; Unmatched score:0.06; Average GERP:-0.014381188118811913 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000674851; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000124 21627779 NONHSAT218019.1 rs569214 ? N/A 319 european ancestry cases//769 european ancestry controls//2,690 cases//2,237 controls; 4,982 european ancestry cases//7,961 european ancestry controls//2,190 cases//3,374 controls EFO_0000249 N/A Associate Alzheimer's disease rs569214-? of NONHSAT218019.1 is significantly associated with the alzheimer's disease by using GWAS analysis in 319 european ancestry cases//769 european ancestry controls//2,690 cases//2,237 controls; 4,982 european ancestry cases//7,961 european ancestry controls//2,190 cases//3,374 controls(p-value = 4E-8 ;OR = 1.14). 0.4 The membrane-spanning 4-domains, subfamily A (MS4A) gene cluster contains a common variant associated with Alzheimer's disease. genome-wide association analysis NONHSAT218019.1 lncRNA Alzheimers disease 0.33 CTGATGCGTT(G > T)GAGTTATAAT chr8: 27630273 0.6458,0.3542 0.69890417940876656,0.30109582059123343 Region score:0.46; TSS score:0.49; Unmatched score:0.48; Average GERP:-0.618678217821782 GeneName:SCARA3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000168077; TranscriptID:ENST00000301904; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000125 23180272 NONHSAT207134.1 rs1042151 G N/A 117 korean ancestry cases//685 korean ancestry controls; 142 korean ancestry cases//996 korean ancestry controls HP_0012042 N/A Associate Aspirin exacerbated respiratory disease in asthmatics rs1042151-G of NONHSAT207134.1 is significantly associated with the aspirin exacerbated respiratory disease in asthmatics by using GWAS analysis in 117 korean ancestry cases//685 korean ancestry controls; 142 korean ancestry cases//996 korean ancestry controls(p-value = 5E-7 ;OR = 2.4). 0.4 Genome-wide association study of aspirin-exacerbated respiratory disease in a Korean population. genome-wide association analysis NONHSAT207134.1 lncRNA Aspirin-induced asthma 0.33 GCCGGACAGG(A > G)TGTGCAGACA chr6: 33080884 0.7476,0.2524 0.76312436289500509,0.23687563710499490 Region score:0.23; TSS score:0.3; Unmatched score:0.77; Average GERP:-0.28324554455445533 GeneName:HLA-DPA1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000231389; TranscriptID:ENST00000419277; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HLA-DPB1; CADD-Score:7; Consquence:missense; GeneID:ENSG00000223865; TranscriptID:ENST00000418931; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000195743; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000788038; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RPL32P1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000224796; TranscriptID:ENST00000439737; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000126 22581228 NONHSAT215396.1 rs4841132 A N/A up to 58,074 european ancestry individuals; up tp 38,422 european ancestry individuals EFO_0001360 N/A Associate Fasting blood glucose rs4841132-A of NONHSAT215396.1 is significantly associated with the fasting blood glucose by using GWAS analysis in up to 58,074 european ancestry individuals; up tp 38,422 european ancestry individuals(p-value = 1E-13 ;OR = 0.0312). 0.4 A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance. genome-wide association analysis NONHSAT215396.1 lncRNA Type ii diabetes mellitus 0.33 CCAGGGCAGC(A > G)TCCAGCTGGT chr8: 9326086 0.09325,0.9067 0.09840086646279306,0.90159913353720693 Region score:0.46; TSS score:0.24; Unmatched score:0.62; Average GERP:-1.1010772277227727 GeneName:AC022784.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000248538; TranscriptID:ENST00000520390; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0795; mirSVR-E:-25.94 | NCRV0000000127 21801394 NONHSAT108734.2 rs3094188 A N/A 424 european ancestry cases//1,881 european ancestry controls EFO_0004775 N/A Associate Drug-induced stevens-johnson syndrome or toxic epidermal necrolysis (sjs/ten) rs3094188-A of NONHSAT108734.2 is significantly associated with the drug-induced stevens-johnson syndrome or toxic epidermal necrolysis (sjs/ten) by using GWAS analysis in 424 european ancestry cases//1,881 european ancestry controls(p-value = 3E-8 ;OR = 1.59). 0.4 Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe. genome-wide association analysis NONHSAT108734.2 lncRNA Toxic epidermal necrolysis 0.33 CCTTCCAACT(C > A)AGACATAAAA chr6: 31174468 0.2953,0.7047 0.30808008409785932,0.69191991590214067 Region score:0.11; TSS score:0.15; Unmatched score:0.2; Average GERP:-0.3258737623762376 GeneName:POU5F1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000204531; TranscriptID:ENST00000259915; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PSORS1C3; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000204528; TranscriptID:ENST00000412143; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000128 26198764 NONHSAT168123.1 rs3812831 C N/A 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls EFO_0000692 N/A Associate Schizophrenia rs3812831-C of NONHSAT168123.1 is significantly associated with the schizophrenia by using GWAS analysis in 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls(p-value = 1E-6 ;OR = 1.0526316). 0.4 Genome-wide association study of schizophrenia in Ashkenazi Jews. genome-wide association analysis NONHSAT168123.1 lncRNA Schizophrenia 0.33 TTGGAGCCAC(T > C)GGAAGCAAGC chr13: 114134675 0.6595,0.3405 0.59841679408766564,0.40158320591233435 Region score:0.26; TSS score:0.41; Unmatched score:0.45; Average GERP:-0.3927673267326733 GeneName:RASA3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000185989; TranscriptID:ENST00000334062; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000129 21364930 NONHSAT082027.2 rs12483205 ? N/A 191 european ancestry individuals; 31 individuals EFO_0000180 N/A Associate Hiv-1 replication rs12483205-? of NONHSAT082027.2 is significantly associated with the hiv-1 replication by using GWAS analysis in 191 european ancestry individuals; 31 individuals(p-value = 5E-6 ;OR = ?). 0.4 Genome-wide association study identifies single nucleotide polymorphism in DYRK1A associated with replication of HIV-1 in monocyte-derived macrophages. genome-wide association analysis NONHSAT082027.2 lncRNA Hiv-1 infection 0.33 TAATCTGGGC(A > G)CAGCGCAGGA chr21: 37368522 0.8425,0.1575 0.78762104994903160,0.21237895005096839 Region score:0.3; TSS score:0.28; Unmatched score:0.67; Average GERP:0.0475306930693069 GeneName:AP001437.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000273210; TranscriptID:ENST00000608783; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:DYRK1A; CADD-Score:2; Consquence:intron; GeneID:ENSG00000157540; TranscriptID:ENST00000643624; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000142140; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000130 19214202 ANRIL rs1333042 ? Recessive 151 generalized agp, 137 localized agp, and 1104 controls EFO_0006342 N/A Increasing risk Aggressive periodontitis rs1333042-? of ANRIL and its dysfunction is significantly associated with the increasing risk of aggressive periodontitis by using case-control analysis in 151 Generalized AgP, 137 Localized AgP, and 1104 controls. 0.4 Identification of a shared genetic susceptibility locus for coronary heart disease and periodontitis. case-control analysis ANRIL lncRNA Aggressive periodontitis 0.33 AAACACTAAC(A > G)GGCACATTGG chr9: 22103814 0.3213,0.6787 0.35466042303771661,0.64533957696228338 Region score:0.43; TSS score:0.42; Unmatched score:0.32; Average GERP:0.1813445544554458 GeneName:CDKN2B-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000240498; TranscriptID:ENST00000428597; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000877597; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000131 27225129 NONHSAT204426.1 rs6882046 A N/A 405,072 european ancestry individuals EFO_0004784 N/A Associate Educational attainment (years of education) rs6882046-A of NONHSAT204426.1 is significantly associated with the educational attainment (years of education) by using GWAS analysis in 405,072 european ancestry individuals(p-value = 8E-14 ;OR = 0.018889697). 0.4 Genome-wide association study identifies 74 loci associated with educational attainment. genome-wide association analysis NONHSAT204426.1 lncRNA Self reported educational attainment 0.52 ACAAGATCCA(A > G)AGTCACAGCA chr5: 88673046 0.6182,0.3818 0.68976968654434250,0.31023031345565749 Region score:0.38; TSS score:0.55; Unmatched score:0.91; Average GERP:2.309994059405941 GeneName:LINC00461; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000245526; TranscriptID:ENST00000505030; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MEF2C-AS2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000245864; TranscriptID:ENST00000510274; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000761582; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000131 27225129 NONHSAT204426.1 rs6882046 ? N/A 405,072 european ancestry individuals EFO_0004784 N/A Associate Educational attainment (college completion) rs6882046-? of NONHSAT204426.1 is significantly associated with the educational attainment (college completion) by using GWAS analysis in 405,072 european ancestry individuals(p-value = 2E-10 ;OR = 1.0438634). 0.4 Genome-wide association study identifies 74 loci associated with educational attainment. genome-wide association analysis NONHSAT204426.1 lncRNA Self reported educational attainment 0.52 ACAAGATCCA(A > G)AGTCACAGCA chr5: 88673046 0.6182,0.3818 0.68976968654434250,0.31023031345565749 Region score:0.38; TSS score:0.55; Unmatched score:0.91; Average GERP:2.309994059405941 GeneName:LINC00461; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000245526; TranscriptID:ENST00000505030; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MEF2C-AS2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000245864; TranscriptID:ENST00000510274; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000761582; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000131 25201988 NONHSAT204426.1 rs6882046 A N/A 106,736 european ancestry individuals EFO_0004784 N/A Associate Educational attainment rs6882046-A of NONHSAT204426.1 is significantly associated with the educational attainment by using GWAS analysis in 106,736 european ancestry individuals(p-value = 9E-7 ;OR = 0.024). 0.4 Common genetic variants associated with cognitive performance identified using the proxy-phenotype method. genome-wide association analysis NONHSAT204426.1 lncRNA Self reported educational attainment 0.52 ACAAGATCCA(A > G)AGTCACAGCA chr5: 88673046 0.6182,0.3818 0.68976968654434250,0.31023031345565749 Region score:0.38; TSS score:0.55; Unmatched score:0.91; Average GERP:2.309994059405941 GeneName:LINC00461; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000245526; TranscriptID:ENST00000505030; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MEF2C-AS2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000245864; TranscriptID:ENST00000510274; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000761582; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000132 26053186 NONHSAT178729.1 rs75000611 ? N/A 362 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//438 european ancestry current smoker individuals//449 latino current smoker individuals//704 japanese ancestry current smoker individuals EFO_0001071 in smokers Associate 3-hydroxypropylmercapturic acid levels in smokers rs75000611-? of NONHSAT178729.1 is significantly associated with the 3-hydroxypropylmercapturic acid levels in smokers by using GWAS analysis in 362 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//438 european ancestry current smoker individuals//449 latino current smoker individuals//704 japanese ancestry current smoker individuals(p-value = 7E-7 ;OR = 0.995). 0.4 Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer. genome-wide association analysis NONHSAT178729.1 lncRNA Lung cancer 0.33 AGTGTCACCA(T > C)TCATCAGGAG chr18: 79568615 0.9722,0.02776 0.98816577471967380,0.01183422528032619 Region score:0.31; TSS score:0.47; Unmatched score:0.32; Average GERP:-0.671031683168317 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000133 28754779 NONHSAT224107.1 rs4826965 ? N/A 1,959 european ancestry cases//1,488 european ancestry alcohol abuse controls//4,552 european ancestry controls EFO_1002013 N/A Associate Alcoholic chronic pancreatitis rs4826965-? of NONHSAT224107.1 is significantly associated with the alcoholic chronic pancreatitis by using GWAS analysis in 1,959 european ancestry cases//1,488 european ancestry alcohol abuse controls//4,552 european ancestry controls(p-value = 2E-7 ;OR = 1.6855829). 0.4 Genome-wide association study identifies inversion in the CTRB1-CTRB2 locus to modify risk for alcoholic and non-alcoholic chronic pancreatitis. genome-wide association analysis NONHSAT224107.1 lncRNA Alcoholic pancreatitis 0.33 ACCAAACACC(A > C,G,T)CATATTCTCA chrX: 107370118 0.4442,.,0.5558,. 0.56175140163098878,0.00349611365953109,0.43050777268093781,0.00424471202854230 Region score:0.29; TSS score:0.06; Unmatched score:0; Average GERP:0 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000134 27863252 NONHSAT173445.1 rs12447180 C N/A 171,996 european ancestry individuals EFO_0007992 N/A Associate Basophil percentage of white cells rs12447180-C of NONHSAT173445.1 is significantly associated with the basophil percentage of white cells by using GWAS analysis in 171,996 european ancestry individuals(p-value = 1E-13 ;OR = 0.02767987). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT173445.1 lncRNA Basophil percentage of leukocytes 0.33 ATATATGGGC(T > C)CATAGAAATA chr16: 88451314 0.5673,0.4327 0.62097827471967380,0.37902172528032619 Region score:0.38; TSS score:0.57; Unmatched score:0.59; Average GERP:-0.5975950495049506 GeneName:ZFPM1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000179588; TranscriptID:ENST00000319555; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000135 20686565 NONHSAT192354.1 rs5756931 C N/A 96,598 european ancestry individuals EFO_0000319 N/A Associate Triglycerides rs5756931-C of NONHSAT192354.1 is significantly associated with the triglycerides by using GWAS analysis in 96,598 european ancestry individuals(p-value = 4E-8 ;OR = 1.54). 0.4 Biological, clinical and population relevance of 95 loci for blood lipids. genome-wide association analysis NONHSAT192354.1 lncRNA Cardiovascular disease 0.451 TAACATACCC(T > A,C)ATAAGCCCTC chr22: 38150026 0.7318,.,0.2682 0.70925713557594291,0.00244489041794087,0.28829797400611620 Region score:0.2; TSS score:0.22; Unmatched score:0.15; Average GERP:0.011734042553191458 GeneName:AL022322.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000279080; TranscriptID:ENST00000624072; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PLA2G6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000184381; TranscriptID:ENST00000332509; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000135 24097068 NONHSAT192354.1 rs5756931 C N/A 94,595 european ancestry individuals; 93,982 european ancestry individuals EFO_0000319 N/A Associate Triglycerides rs5756931-C of NONHSAT192354.1 is significantly associated with the triglycerides by using GWAS analysis in 94,595 european ancestry individuals; 93,982 european ancestry individuals(p-value = 3E-8 ;OR = 0.02). 0.4 Discovery and refinement of loci associated with lipid levels. genome-wide association analysis NONHSAT192354.1 lncRNA Cardiovascular disease 0.451 TAACATACCC(T > A,C)ATAAGCCCTC chr22: 38150026 0.7318,.,0.2682 0.70925713557594291,0.00244489041794087,0.28829797400611620 Region score:0.2; TSS score:0.22; Unmatched score:0.15; Average GERP:0.011734042553191458 GeneName:AL022322.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000279080; TranscriptID:ENST00000624072; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PLA2G6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000184381; TranscriptID:ENST00000332509; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000136 21784300 NONHSAT160406.1 rs1059440 ? N/A 341 adhd case offspring from 339 trios EFO_0003888 N/A Associate Attention deficit hyperactivity disorder rs1059440-? of NONHSAT160406.1 is significantly associated with the attention deficit hyperactivity disorder by using GWAS analysis in 341 adhd case offspring from 339 trios(p-value = 4E-6 ;OR = ?). 0.4 Genome-wide association study of the child behavior checklist dysregulation profile. genome-wide association analysis NONHSAT160406.1 lncRNA Attention deficit hyperactivity disorder 0.33 TATTTCACAA(T > C)GGGACCGCAT chr11: 64224329 0.8466,0.1534 0.83696483180428134,0.16303516819571865 Region score:0.37; TSS score:0.33; Unmatched score:0.82; Average GERP:1.2122277227722769 GeneName:AP001453.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000256116; TranscriptID:ENST00000534988; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:FERMT3; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000149781; TranscriptID:ENST00000279227; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000432258; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NUDT22; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000149761; TranscriptID:ENST00000279206; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TRPT1; CADD-Score:7; Consquence:missense; GeneID:ENSG00000149743; TranscriptID:ENST00000394546; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000137 21810271 NONHSAT220867.1 rs1757948 G N/A 1,624 european ancestry individuals EFO_0004634 N/A Associate Fviii levels rs1757948-G of NONHSAT220867.1 is significantly associated with the fviii levels by using GWAS analysis in 1,624 european ancestry individuals(p-value = 7E-6 ;OR = 0.15). 0.4 Combined analysis of three genome-wide association studies on vWF and FVIII plasma levels. genome-wide association analysis NONHSAT220867.1 lncRNA Coagulation factor measurement 0.33 AAAATTATGG(A > C,G)GCAGTGCCAT chr9: 78695764 0.7532,0.2468,. 0.73929663608562691,0.26068743628950050,0.00001592762487257 Region score:0.46; TSS score:0.56; Unmatched score:0.37; Average GERP:1.965052772277228 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000138 25433484 mir-499 rs3746444 C Dominant 12799 cases and 14507 controls EFO_0000311 N/A Increasing risk Cancer rs3746444-C of mir-499 and its dysfunction is significantly associated with the increasing risk of cancer by using meta-analysis in 12799 cases and 14507 controls. 0.4 Meta-analysis of Hsa-mir-499 polymorphism (rs3746444) for cancer risk: evidence from 31 case-control studies. meta-analysis hsa-mir-499a miRNA Cancer 0.393 CCACGTGAAC(A > G)TCACAGCAAG chr20: 34990448 0.8165,0.1835 0.81708715596330275,0.18291284403669724 Region score:0.79; TSS score:0.85; Unmatched score:0.95; Average GERP:3.757564356435645 GeneName:MIR499A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207635; TranscriptID:ENST00000384903; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR499B; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283441; TranscriptID:ENST00000636498; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYH7B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000078814; TranscriptID:ENST00000262873; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000138 23271127 miR-499 rs3746444 C N/a 4,794 cases and 5,971 controls EFO_0000311 N/A No significance for risk Cancer rs3746444-C of miR-499 and its dysfunction is not significantly associated with cancer by using Pedigree analysis in 4,794 cases and 5,971 controls. -0.4 The association between common genetic variant of microRNA-499 and cancer susceptibility: a meta-analysis. Pedigree analysis hsa-mir-499a miRNA Cancer 0.393 CCACGTGAAC(A > G)TCACAGCAAG chr20: 34990448 0.8165,0.1835 0.81708715596330275,0.18291284403669724 Region score:0.79; TSS score:0.85; Unmatched score:0.95; Average GERP:3.757564356435645 GeneName:MIR499A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207635; TranscriptID:ENST00000384903; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR499B; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283441; TranscriptID:ENST00000636498; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYH7B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000078814; TranscriptID:ENST00000262873; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000138 27397105 MIR499 rs3746444 G N/a Cancer cell lines EFO_0000311 N/A Decreasing risk Cancer rs3746444-G of MIR499 and its dysfunction is significantly associated with the decreasing risk of Cancer by using analysis of sequence variation in Cancer cell lines. By using the disease cell lines or tissues, the mutation of MIR499 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 MicroRNA Genetic Variation: From Population Analysis to Functional Implications of Three Allele Variants Associated with Cancer. analysis of sequence variation; Function hsa-mir-499a miRNA Cancer 0.393 CCACGTGAAC(A > G)TCACAGCAAG chr20: 34990448 0.8165,0.1835 0.81708715596330275,0.18291284403669724 Region score:0.79; TSS score:0.85; Unmatched score:0.95; Average GERP:3.757564356435645 GeneName:MIR499A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207635; TranscriptID:ENST00000384903; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR499B; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283441; TranscriptID:ENST00000636498; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYH7B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000078814; TranscriptID:ENST00000262873; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000138 22903035 miR-499 rs3746444 C N/a 10,584 cases and 12,414 controls EFO_0000311 N/A No significance for risk Cancers and other diseases rs3746444-C of miR-499 and its dysfunction is not significantly associated with cancers and other diseases by using meta-analysis in 10,584 cases and 12,414 controls. -0.4 The association between hsa-miR-499 T>C polymorphism and cancer risk: a meta-analysis. meta-analysis hsa-mir-499a miRNA Cancer 0.393 CCACGTGAAC(A > G)TCACAGCAAG chr20: 34990448 0.8165,0.1835 0.81708715596330275,0.18291284403669724 Region score:0.79; TSS score:0.85; Unmatched score:0.95; Average GERP:3.757564356435645 GeneName:MIR499A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207635; TranscriptID:ENST00000384903; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR499B; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283441; TranscriptID:ENST00000636498; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYH7B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000078814; TranscriptID:ENST00000262873; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000139 25628336 NONHSAT178021.1 rs10514168 C N/A 80,494 european ancestry individuals EFO_0006928 N/A Associate Motion sickness rs10514168-C of NONHSAT178021.1 is significantly associated with the motion sickness by using GWAS analysis in 80,494 european ancestry individuals(p-value = 3E-9 ;OR = 0.047). 0.4 Genetic variants associated with motion sickness point to roles for inner ear development, neurological processes and glucose homeostasis. genome-wide association analysis NONHSAT178021.1 lncRNA Motion sickness 0.33 AGCGTGACGA(C > A)CTGTCCTCCT chr18: 75386994 0.8974,0.1026 0.87571674311926605,0.12428325688073394 Region score:0.27; TSS score:0.24; Unmatched score:0.07; Average GERP:-1.3026146534653473 GeneName:AC116003.3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000276993; TranscriptID:ENST00000612669; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000580272; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000140 28177126 SNORD118 rs368022715 ? Dominant 8 unrelated families with LCC Orphanet_313838 N/A increasing risk Coats plus syndrome rs368022715-? of SNORD118 and its dysfunction is significantly associated with the increasing risk of Coats plus syndrome by using Pedigree analysis in 8 unrelated families with LCC 0.4 Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts. Pedigree analysis SNORD118 snoRNA Coats plus syndrome 0.33 GGAGGAACAG(G > A,C,T)TAAGGATTAT chr17: 8173565 0.9998,0.0001997,.,. 0.99950624362895005,0.00046986493374108,0.00002389143730886,. - GeneName:AC129492.4; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000266824; TranscriptID:ENST00000581248; AnnoType:UPSTREAM; mirSVR-Score:-0.2753; mirSVR-E:-18.57 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000282324; AnnoType:REGULATORY; mirSVR-Score:-0.2753; mirSVR-E:-18.57 | GeneName:SNORD118; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000200463; TranscriptID:ENST00000363593; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.2753; mirSVR-E:-18.57 | GeneName:TMEM107; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000179029; TranscriptID:ENST00000316425; AnnoType:DOWNSTREAM; mirSVR-Score:-0.2753; mirSVR-E:-18.57 | NCRV0000000141 24047446 NONHSAT023561.2 rs17221829 A N/A 1,080 european ancestry cases//442 european ancestry controls EFO_0006788 N/A Associate Anxiety in major depressive disorder rs17221829-A of NONHSAT023561.2 is significantly associated with the anxiety in major depressive disorder by using GWAS analysis in 1,080 european ancestry cases//442 european ancestry controls(p-value = 5E-6 ;OR = 0.4408). 0.4 Genome-wide association study of co-occurring anxiety in major depression. genome-wide association analysis NONHSAT023561.2 lncRNA Anxiety disorder 0.33 CATGAAGTAA(C > A)AATAACACTT chr11: 89733564 0.7724,0.2276 0.73212920489296636,0.26787079510703363 Region score:0.33; TSS score:0.09; Unmatched score:0.3; Average GERP:0.08957425742574258 GeneName:AP003122.5; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000255540; TranscriptID:ENST00000527668; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000142 23975664 mir-26a1 rs7372209 ? Dominant 674 advanced gastric cancer patients received 5-fluorouracil (f), leucovorin (l), oxaliplatin (o) or fl + cisplatin (p) or additional docetaxel (t) to flo (flot) within four clinical trials EFO_0000178 N/A Poor prognosis Gastric cancer rs7372209-? of mir-26a1 and its dysfunction is significantly associated with the poor prognosis of gastric cancer by using case-control analysis in 674 advanced gastric cancer patients received 5-fluorouracil (F), leucovorin (L), oxaliplatin (O) or FL + cisplatin (P) or additional docetaxel (T) to FLO (FLOT) within four clinical trials. 0.4 Prognostic role of microRNA polymorphisms in advanced gastric cancer: a translational study of the Arbeitsgemeinschaft Internistische Onkologie (AIO). case-control analysis hsa-mir-26a-1 miRNA Gastric cancer 0.33 ATTAATCCTT(T > C)GTACCACGTG chr3: 37969217 0.2015,0.7985 0.21918800968399592,0.78081199031600407 Region score:0.25; TSS score:0.19; Unmatched score:0.58; Average GERP:0.42166831683168315 GeneName:CTDSPL; CADD-Score:2; Consquence:intron; GeneID:ENSG00000144677; TranscriptID:ENST00000273179; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR26A1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000199075; TranscriptID:ENST00000362205; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000682913; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000143 25019275 linc01080 rs7990916 C Dominant 106 sad patients, 67 amci patients, and 179 healthy controls in a han chinese population EFO_0001072 N/A No significance for risk Amnestic mild cognitive impairment rs7990916-C of linc01080 and its dysfunction is not significantly associated with amnestic mild cognitive impairment by using case-control analysis in 106 SAD patients, 67 aMCI patients, and 179 healthy controls in a Han Chinese population . -0.4 Lack of association of a genetic variant in the long intergenic noncoding RNA (linc01080) with Alzheimer's disease and amnestic mild cognitive impairment in Han Chinese. case-control analysis linc01080 lncRNA Memory impairment -0.33 TTCATTCTTA(T > A,C)CAAGTTGACA chr13: 80065389 0.2804,.,0.7196 0.33645514780835881,0.00190335117227319,0.66164150101936799 Region score:0.33; TSS score:0.04; Unmatched score:0.01; Average GERP:0.1519261386138614 GeneName:AL158064.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000284196; TranscriptID:ENST00000640346; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000144 17554300 NONHSAT210400.1 rs615672 ? N/A 1,860 european ancestry cases//2,938 european ancestry controls EFO_0000685 N/A Associate Rheumatoid arthritis rs615672-? of NONHSAT210400.1 is significantly associated with the rheumatoid arthritis by using GWAS analysis in 1,860 european ancestry cases//2,938 european ancestry controls(p-value = 8E-27 ;OR = ?). 0.4 Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. genome-wide association analysis NONHSAT210400.1 lncRNA Rheumatoid arthritis 0.33 GTTAGGAAAA(G > A,C)AGAAATAAGA chr6: 32606394 0.5333,.,0.4667 0.57443775484199796,0.00007167431192660,0.42549057084607543 Region score:0.23; TSS score:0.3; Unmatched score:0.17; Average GERP:-0.446445544554455 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000145 27863252 NONHSAT193035.1 rs5769707 T N/A 170,721 european ancestry individuals EFO_0005091 N/A Associate Monocyte count rs5769707-T of NONHSAT193035.1 is significantly associated with the monocyte count by using GWAS analysis in 170,721 european ancestry individuals(p-value = 7E-11 ;OR = 0.02392192). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT193035.1 lncRNA Monocyte count 0.33 AAGCTAATTA(G > T)CGCAGCCTCA chr22: 49619754 0.5715,0.4285 0.51951134046890927,0.48048865953109072 Region score:0.37; TSS score:0.4; Unmatched score:0.53; Average GERP:0.04362371134020618 GeneName:C22orf34; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000188511; TranscriptID:ENST00000343999; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.2632; mirSVR-E:-10.22 | GeneName:Z97192.3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000235111; TranscriptID:ENST00000420902; AnnoType:UPSTREAM; mirSVR-Score:-0.2632; mirSVR-E:-10.22 | NCRV0000000146 28073927 NONHSAT190055.1 rs6107845 A N/A 21,768 european ancestry individuals//2,131 erasmus rucphen (founder/genetic isolate) individuals; 8,168 asian ancestry individuals EFO_0006939 N/A Associate Vertical cup-disc ratio rs6107845-A of NONHSAT190055.1 is significantly associated with the vertical cup-disc ratio by using GWAS analysis in 21,768 european ancestry individuals//2,131 erasmus rucphen (founder/genetic isolate) individuals; 8,168 asian ancestry individuals(p-value = 3E-17 ;OR = 0.009). 0.4 New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics. genome-wide association analysis NONHSAT190055.1 lncRNA Cup-to-disc ratio measurement 0.33 CACTAGCTAT(G > A)TGAGCACTTG chr20: 6598094 0.6096,0.3904 0.64036219418960244,0.35963780581039755 Region score:0.33; TSS score:0.23; Unmatched score:0.09; Average GERP:-0.4862267326732674 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000147 23118916 NONHSAT174827.1 rs11552708 G N/A 1,999 han chinese ancestry individuals; 1,496 east asian ancestry individuals EFO_0004993 N/A Associate Igm levels rs11552708-G of NONHSAT174827.1 is significantly associated with the igm levels by using GWAS analysis in 1,999 han chinese ancestry individuals; 1,496 east asian ancestry individuals(p-value = 4E-9 ;OR = ?). 0.4 Genome-wide scan identifies variant in TNFSF13 associated with serum IgM in a healthy Chinese male population. genome-wide association analysis NONHSAT174827.1 lncRNA Serum igm measurement 0.33 CCGGCTGCAG(G > A,C)GGACAGGAGG chr17: 7559238 0.8622,0.1378,. 0.86635129969418960,0.13362480886850152,0.00002389143730886 Region score:0.2; TSS score:0.39; Unmatched score:0.75; Average GERP:2.018794673267327 GeneName:AC016876.3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000276384; TranscriptID:ENST00000610459; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000090876; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SENP3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000161956; TranscriptID:ENST00000321337; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SENP3-EIF4A1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277957; TranscriptID:ENST00000614237; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TNFSF12; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000239697; TranscriptID:ENST00000293825; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TNFSF12-TNFSF13; CADD-Score:2; Consquence:intron; GeneID:ENSG00000248871; TranscriptID:ENST00000293826; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TNFSF13; CADD-Score:7; Consquence:missense; GeneID:ENSG00000161955; TranscriptID:ENST00000338784; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000148 22648509 NONHSAT055624.2 rs1015657 ? N/A 835 european ancestry cases//2,694 european ancestry controls EFO_0004805 N/A Associate Formal thought disorder in schizophrenia rs1015657-? of NONHSAT055624.2 is significantly associated with the formal thought disorder in schizophrenia by using GWAS analysis in 835 european ancestry cases//2,694 european ancestry controls(p-value = 2E-6 ;OR = 1.32). 0.4 PKNOX2 is associated with formal thought disorder in schizophrenia: a meta-analysis of two genome-wide association studies. genome-wide association analysis NONHSAT055624.2 lncRNA Formal thought disorder 0.33 AATGATTAGG(A > G)TAAAGAAGCA chr17: 70882346 0.3622,0.6378 0.43053962793068297,0.56946037206931702 Region score:0.32; TSS score:0.16; Unmatched score:0; Average GERP:-0.5861356435643565 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000563163; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000149 25352737 NONHSAT133739.2 rs1929494 T N/A 5,503 european//black//and other ancestry cases age 50 and older//1,894 european//black//and other ancestry controls age 50 and older HP_0011141 N/A Associate Age-related cataracts rs1929494-T of NONHSAT133739.2 is significantly associated with the age-related cataracts by using GWAS analysis in 5,503 european//black//and other ancestry cases age 50 and older//1,894 european//black//and other ancestry controls age 50 and older(p-value = 2E-6 ;OR = 1.217). 0.4 Electronic medical records and genomics (eMERGE) network exploration in cataract: several new potential susceptibility loci. genome-wide association analysis NONHSAT133739.2 lncRNA Age-related cataract 0.33 AGCTCATGAG(G > A)AGTCTCATTT chr9: 101474492 0.5929,0.4071 0.61500541539245667,0.38499458460754332 Region score:0.47; TSS score:0.69; Unmatched score:0.81; Average GERP:0.5017881188118811 GeneName:TMEM246-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000225376; TranscriptID:ENST00000450109; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TMEM246; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000165152; TranscriptID:ENST00000374851; AnnoType:3PRIME_UTR; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000150 22885922 NONHSAT199696.1 rs4458523 G N/A 6,377 european ancestry male cases//5,794 european ancestry female cases//22,243 european ancestry male controls//34,619 european ancestry female controls; 12,938 european ancestry male cases//8,553 european ancestry female cases//904 pakistani ancestry male cases//274 pakistani ancestry female cases//30,273 european ancestry male controls//25,374 european ancestry female controls//2,088 pakistani ancestry male controls//384 pakistani ancestry female controls EFO_0001360 N/A Associate Type 2 diabetes rs4458523-G of NONHSAT199696.1 is significantly associated with the type 2 diabetes by using GWAS analysis in 6,377 european ancestry male cases//5,794 european ancestry female cases//22,243 european ancestry male controls//34,619 european ancestry female controls; 12,938 european ancestry male cases//8,553 european ancestry female cases//904 pakistani ancestry male cases//274 pakistani ancestry female cases//30,273 european ancestry male controls//25,374 european ancestry female controls//2,088 pakistani ancestry male controls//384 pakistani ancestry female controls(p-value = 2E-15 ;OR = 1.1). 0.4 Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes. genome-wide association analysis NONHSAT199696.1 lncRNA Type ii diabetes mellitus 0.451 CTCACAGCCA(T > G)ATTGTACTTT chr4: 6288259 0.3117,0.6883 0.37841647553516819,0.62158352446483180 Region score:0.34; TSS score:0.13; Unmatched score:0.28; Average GERP:-0.524718556701031 GeneName:WFS1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000109501; TranscriptID:ENST00000226760; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000150 24509480 NONHSAT199696.1 rs4458523 G N/A 12,171 european ancestry cases//56,862 european ancestry controls//6,952 east asian ancestry cases//11,865 east asian ancestry controls//5,561 south asian ancestry cases//14,458 south asian ancestry controls//1,804 mexican ancestry cases//779 mexican ancestry controls; 21,491 european ancestry cases//55,647 european ancestry controls EFO_0001360 N/A Associate Type 2 diabetes rs4458523-G of NONHSAT199696.1 is significantly associated with the type 2 diabetes by using GWAS analysis in 12,171 european ancestry cases//56,862 european ancestry controls//6,952 east asian ancestry cases//11,865 east asian ancestry controls//5,561 south asian ancestry cases//14,458 south asian ancestry controls//1,804 mexican ancestry cases//779 mexican ancestry controls; 21,491 european ancestry cases//55,647 european ancestry controls(p-value = 2E-9 ;OR = 1.09). 0.4 Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. genome-wide association analysis NONHSAT199696.1 lncRNA Type ii diabetes mellitus 0.451 CTCACAGCCA(T > G)ATTGTACTTT chr4: 6288259 0.3117,0.6883 0.37841647553516819,0.62158352446483180 Region score:0.34; TSS score:0.13; Unmatched score:0.28; Average GERP:-0.524718556701031 GeneName:WFS1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000109501; TranscriptID:ENST00000226760; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000151 27863252 NONHSAT152720.1 rs12239179 T N/A 170,761 european ancestry individuals EFO_0007986 N/A Associate High light scatter reticulocyte count rs12239179-T of NONHSAT152720.1 is significantly associated with the high light scatter reticulocyte count by using GWAS analysis in 170,761 european ancestry individuals(p-value = 4E-13 ;OR = 0.03016017). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT152720.1 lncRNA Reticulocyte count 0.33 TCTTGTATTA(C > T)TTTTAAGATT chr1: 199007363 0.2819,0.7181 0.29298069571865443,0.70701930428134556 Region score:0.45; TSS score:0.35; Unmatched score:0.47; Average GERP:-0.5530772277227723 GeneName:LINC01222; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000233410; TranscriptID:ENST00000427439; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000152 24205249 miR-423 rs6505162 C Dominant In the black ancestry group, 368 cases and 583 controls were recruited, whereas 197 cases and 420 controls were of mixed ancestry. EFO_0005922 N/A Increasing risk Esophageal squamous cell carcinoma rs6505162-C of miR-423 and its dysfunction is significantly associated with the increasing risk of esophageal squamous cell carcinoma by using case-control analysis in In the Black ancestry group, 368 cases and 583 controls were recruited, whereas 197 cases and 420 controls were of Mixed Ancestry. . By using the disease cell lines or tissues, the mutation of miR-423 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 MicroRNA polymorphisms and environmental smoke exposure as risk factors for oesophageal squamous cell carcinoma. case-control analysis; Function hsa-mir-423 miRNA Esophageal squamous cell cancer 0.393 TTGCTTCCTA(A > C,T)CCCGCGCTTG chr17: 30117165 0.5022,0.4978,. 0.57055937818552497,0.42940876656472986,0.00003185524974515 Region score:0.43; TSS score:0.32; Unmatched score:0.93; Average GERP:3.269841584158416 GeneName:AC104984.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000265394; TranscriptID:ENST00000582938; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC104984.5; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000266919; TranscriptID:ENST00000586878; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3184; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284399; TranscriptID:ENST00000637796; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR423; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000283935; TranscriptID:ENST00000362201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000092957; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NSRP1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000126653; TranscriptID:ENST00000247026; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000152 26261633 miR423 rs6505162 A N/A 248 Kazakh patients with ESCC and 300 frequency matched control subjects EFO_0005922 N/A no significance for risk esophageal squamous cell carcinoma rs6505162-A of hsa-mir-423 and its dysfunction is not significantly associated with Esophageal squamous cell carcinoma by using case-control analysis in 248 Kazakh patients with ESCC and 300 frequency matched control subjects -0.4 Genetic variation in miR-100 rs1834306 is associated with decreased risk for esophageal squamous cell carcinoma in Kazakh patients in northwest China. case-control analysis hsa-mir-423 miRNA Esophageal squamous cell carcinoma 0.393 TTGCTTCCTA(A > C,T)CCCGCGCTTG chr17: 30117165 0.5022,0.4978,. 0.57055937818552497,0.42940876656472986,0.00003185524974515 Region score:0.43; TSS score:0.32; Unmatched score:0.93; Average GERP:3.269841584158416 GeneName:AC104984.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000265394; TranscriptID:ENST00000582938; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC104984.5; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000266919; TranscriptID:ENST00000586878; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3184; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284399; TranscriptID:ENST00000637796; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR423; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000283935; TranscriptID:ENST00000362201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000092957; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NSRP1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000126653; TranscriptID:ENST00000247026; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000153 28604730 NONHSAT171740.1 rs11855650 T N/A 11,273 european ancestry cases// 55,483 european ancestry controls EFO_0000571 N/A Associate Lung adenocarcinoma rs11855650-T of NONHSAT171740.1 is significantly associated with the lung adenocarcinoma by using GWAS analysis in 11,273 european ancestry cases// 55,483 european ancestry controls(p-value = 6E-7 ;OR = 1.0864811). 0.4 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. genome-wide association analysis NONHSAT171740.1 lncRNA Lung adenocancer 0.33 CCCACGAGAT(G > T)GCTGTGTAAA chr15: 70139434 0.5885,0.4115 0.61051382517838939,0.38948617482161060 Region score:0.43; TSS score:0.53; Unmatched score:0.27; Average GERP:-1.0465079207920793 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000154 23430406 miR-146a rs2910164 G recessive 680 glioma cases and 690 cancer-free controls EFO_0005543 N/A increasing risk glioma rs2910164-G of hsa-mir-146a and its dysfunction is significantly associated with the increasing risk of Glioma by using case-control analysis in 680 glioma cases and 690 cancer-free controls 0.4 Four common polymorphisms in microRNAs and the risk of adult glioma in a Chinese case-control study. case-control analysis hsa-mir-146a miRNA Glioma 0.33 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 0 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000155 27910778 miR513c rs145416750 ? N/a Schizophrenia EFO_0001071 N/A No significance for risk Lung cancer rs145416750-? of miR513c and its dysfunction is not significantly associated with lung cancer by using analysis of sequence variation in Schizophrenia. -0.4 miRSNPs of miR1274 and miR3202 Genes that Target MeCP2 and DNMT3b Are Associated with Lung Cancer Risk: A Study Conducted on MassARRAY Genotyping. analysis of sequence variation hsa-mir-513c miRNA Lung cancer -0.33 AGGCACTGTA(C > T)GCTGAATGGC chrX: 147189785 0.9952,0.004768 0.99391564729867482,0.00608435270132517 Region score:0.38; TSS score:0.16; Unmatched score:0.37; Average GERP:-0.12423940594059404 GeneName:AL589669.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000284377; TranscriptID:ENST00000639829; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR513C; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000216171; TranscriptID:ENST00000401352; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000156 27846195 NONHSAT002270.2 rs45496701 G N/A 1,390 european ancestry cases EFO_0000692 paliperidone Associate Response to paliperidone in schizophrenia (negative marder score) rs45496701-G of NONHSAT002270.2 is significantly associated with the response to paliperidone in schizophrenia (negative marder score) by using GWAS analysis in 1,390 european ancestry cases(p-value = 9E-6 ;OR = 3.1538). 0.4 Genome-wide association study of paliperidone efficacy. genome-wide association analysis NONHSAT002270.2 lncRNA Schizophrenia 0.33 AAAATCAAAT(G > A)TGGGGGGAAA chr1: 33300620 0.9882,0.01178 0.98410423037716615,0.01589576962283384 Region score:0.59; TSS score:0.82; Unmatched score:0.88; Average GERP:1.7367821782178225 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000353259; AnnoType:REGULATORY; mirSVR-Score:-1.0250; mirSVR-E:-19.93 | GeneName:ZNF362; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000160094; TranscriptID:ENST00000539719; AnnoType:3PRIME_UTR; mirSVR-Score:-1.0250; mirSVR-E:-19.93 | NCRV0000000157 28928442 NONHSAT169266.1 rs1957497 ? N/A 43,826 european ancestry cases//15,720 european ancestry controls EFO_0008417 N/A Associate Number of common colds rs1957497-? of NONHSAT169266.1 is significantly associated with the number of common colds by using GWAS analysis in 43,826 european ancestry cases//15,720 european ancestry controls(p-value = 5E-6 ;OR = 0.0205). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. genome-wide association analysis NONHSAT169266.1 lncRNA Susceptibility to common cold measurement 0.33 GCTTTCTTTC(C > T)TGTTCTTACA chr14: 43965134 0.256,0.744 0.21737226044852191,0.78262773955147808 Region score:0.33; TSS score:0.1; Unmatched score:0.02; Average GERP:0.03787722772277231 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000158 25524916 NONHSAT042020.2 rs10851411 ? N/A up to 4,176 mexican american individuals EFO_0001360 N/A Associate Glucose homeostasis traits rs10851411-? of NONHSAT042020.2 is significantly associated with the glucose homeostasis traits by using GWAS analysis in up to 4,176 mexican american individuals(p-value = 6E-6 ;OR = 0.14). 0.4 Genetic Variants Associated With Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium. genome-wide association analysis NONHSAT042020.2 lncRNA Type ii diabetes mellitus 0.33 AGCTAAAAAA(T > G)AGCCATGACA chr15: 42567037 0.4776,0.5224 0.44736716360856269,0.55263283639143730 Region score:0.44; TSS score:0.58; Unmatched score:0.67; Average GERP:0.21196534653465374 GeneName:AC018362.2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000261822; TranscriptID:ENST00000567089; AnnoType:DOWNSTREAM; mirSVR-Score:-0.4734; mirSVR-E:-7.75 | GeneName:HAUS2; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000137814; TranscriptID:ENST00000260372; AnnoType:3PRIME_UTR; mirSVR-Score:-0.4734; mirSVR-E:-7.75 | GeneName:MYL12BP1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000260490; TranscriptID:ENST00000569826; AnnoType:UPSTREAM; mirSVR-Score:-0.4734; mirSVR-E:-7.75 | NCRV0000000159 28604730 NONHSAT203751.1 rs12517665 A N/A 29,266 european ancestry cases//56,450 european ancestry controls EFO_0001071 N/A Associate Lung cancer rs12517665-A of NONHSAT203751.1 is significantly associated with the lung cancer by using GWAS analysis in 29,266 european ancestry cases//56,450 european ancestry controls(p-value = 8E-6 ;OR = 1.0714158). 0.4 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. genome-wide association analysis NONHSAT203751.1 lncRNA Lung cancer 0.33 CAGCAGGTGC(G > A)GTGGCTAGTG chr5: 1128621 0.9026,0.09744 0.86893157492354740,0.13106842507645259 Region score:0.48; TSS score:0.45; Unmatched score:0.36; Average GERP:-0.3840495049504955 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000160 28199695 NONHSAT203208.1 rs2073643 T N/A 84,724 european ancestry individuals EFO_0008378 N/A Associate Mosquito bite size rs2073643-T of NONHSAT203208.1 is significantly associated with the mosquito bite size by using GWAS analysis in 84,724 european ancestry individuals(p-value = 3E-20 ;OR = 0.0483183). 0.4 GWAS of self-reported mosquito bite size, itch intensity and attractiveness to mosquitoes implicates immune-related predisposition loci. genome-wide association analysis NONHSAT203208.1 lncRNA Mosquito bite reaction size measurement 0.33 ATTTCATCTC(T > C)TGAGTATTAG chr5: 132387596 0.6436,0.3564 0.52932275739041794,0.47067724260958205 Region score:0.25; TSS score:0.37; Unmatched score:0.59; Average GERP:-0.37143564356435665 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000186850; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SLC22A5; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197375; TranscriptID:ENST00000435065; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000161 26584805 NONHSAT106762.2 rs316338 G N/A 717 singaporean chinese ancestry myocardial infarction cases//644 singaporean chinese ancestry controls EFO_0000319 N/A Associate Plasma omega-6 polyunsaturated fatty acid levels (gamma-linolenic acid) rs316338-G of NONHSAT106762.2 is significantly associated with the plasma omega-6 polyunsaturated fatty acid levels (gamma-linolenic acid) by using GWAS analysis in 717 singaporean chinese ancestry myocardial infarction cases//644 singaporean chinese ancestry controls(p-value = 7E-6 ;OR = 0.1076). 0.4 A genome-wide association study of n-3 and n-6 plasma fatty acids in a Singaporean Chinese population. genome-wide association analysis NONHSAT106762.2 lncRNA Cardiovascular disease 0.33 TGCAACTTTA(A > G)AAGTTTTGGG chr6: 2837612 0.372,0.628 0.39790392456676860,0.60209607543323139 Region score:0.22; TSS score:0.11; Unmatched score:0.23; Average GERP:-0.28628415841584154 GeneName:SERPINB1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000021355; TranscriptID:ENST00000380739; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000162 23251661 NONHSAT185364.1 rs4252023 A N/A 815 hispanic children from 263 families EFO_0004626 N/A Associate Obesity-related traits rs4252023-A of NONHSAT185364.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 2E-6 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. genome-wide association analysis NONHSAT185364.1 lncRNA Igfbp-3 measurement 0.33 TGGAAGCTGA(C > T)CAGCCCGTCA chr2: 113132796 0.9858,0.01418 0.98295744138634046,0.01704255861365953 Region score:0.14; TSS score:0.31; Unmatched score:0.5; Average GERP:1.1250613861386138 GeneName:IL1RN; CADD-Score:5; Consquence:synonymous; GeneID:ENSG00000136689; TranscriptID:ENST00000259206; AnnoType:SYNONYMOUS; mirSVR-Score:-0.6244; mirSVR-E:-17.00 | NCRV0000000163 26420894 NONHSAT208063.1 rs10872424 T N/A up to 744 central european ancestry child cases//up to 397 turkish ancestry child cases EFO_0003884 N/A Associate Glomerular filtration rate in chronic kidney disease rs10872424-T of NONHSAT208063.1 is significantly associated with the glomerular filtration rate in chronic kidney disease by using GWAS analysis in up to 744 central european ancestry child cases//up to 397 turkish ancestry child cases(p-value = 4E-6 ;OR = 0.12). 0.4 Genetic loci associated with renal function measures and chronic kidney disease in children: the Pediatric Investigation for Genetic Factors Linked with Renal Progression Consortium. genome-wide association analysis NONHSAT208063.1 lncRNA Chronic kidney disease 0.33 GCCCAGAAGT(C > T)AAAGTCCAGC chr6: 134503073 0.9571,0.04293 0.93070686799184505,0.06929313200815494 Region score:0.27; TSS score:0.57; Unmatched score:0.59; Average GERP:-0.17357227722772262 GeneName:AL078590.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000231971; TranscriptID:ENST00000417483; AnnoType:INTRONIC; mirSVR-Score:-0.2072; mirSVR-E:-15.78 | GeneName:LINC01010; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000236700; TranscriptID:ENST00000431422; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.2072; mirSVR-E:-15.78 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000806185; AnnoType:REGULATORY; mirSVR-Score:-0.2072; mirSVR-E:-15.78 | NCRV0000000164 27863252 NONHSAT026062.2 rs10466905 A N/A 166,066 european ancestry individuals EFO_0004309 N/A Associate Platelet count rs10466905-A of NONHSAT026062.2 is significantly associated with the platelet count by using GWAS analysis in 166,066 european ancestry individuals(p-value = 3E-9 ;OR = 0.02756545). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT026062.2 lncRNA Platelet count 0.33 TTTTAACTTA(G > A)TCACCTCTTT chr12: 6393666 0.8299,0.1701 0.80079319571865443,0.19920680428134556 Region score:0.23; TSS score:0.09; Unmatched score:0.28; Average GERP:-0.08750792079207921 GeneName:AC005840.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000256433; TranscriptID:ENST00000541888; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LTBR; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000111321; TranscriptID:ENST00000228918; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000048298; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000165 26631737 NONHSAT178761.1 rs4528660 T N/A up to 46,051 european ancestry individuals EFO_0007778 N/A Associate Urinary albumin-to-creatinine ratio in non-diabetics rs4528660-T of NONHSAT178761.1 is significantly associated with the urinary albumin-to-creatinine ratio in non-diabetics by using GWAS analysis in up to 46,051 european ancestry individuals(p-value = 9E-6 ;OR = 0.073). 0.4 Genome-wide Association Studies Identify Genetic Loci Associated With Albuminuria in Diabetes. genome-wide association analysis NONHSAT178761.1 lncRNA Urinary albumin to creatinine ratio 0.33 AGGTTCATTT(T > C)GAATAGGTTC chr18: 3043518 0.767,0.233 0.80684569317023445,0.19315430682976554 Region score:0.35; TSS score:0.39; Unmatched score:0.21; Average GERP:-0.09921782178217826 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000166 22778062 SNORD107 rs45439098 C N/a N/a function N/A Not significant changes in the structure Function rs45439098-C of SNORD107 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD107 snoRNA Function -0.049 GCCTTGGCTA(G > C)GTTCATGATG chr15: 24981994 0.9988,0.001198 0.99682243883792048,0.00317756116207951 Region score:0.77; TSS score:0.57; Unmatched score:0.75; Average GERP:0.862294851485149 GeneName:AC124312.1; CADD-Score:2; Consquence:NMD,3_prime_UTR; GeneID:ENSG00000214265; TranscriptID:ENST00000551312; AnnoType:3PRIME_UTR; mirSVR-Score:-0.4867; mirSVR-E:-15.68 | GeneName:AC124312.4; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000270704; TranscriptID:ENST00000605533; AnnoType:UPSTREAM; mirSVR-Score:-0.4867; mirSVR-E:-15.68 | GeneName:PWAR5; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000279192; TranscriptID:ENST00000624480; AnnoType:UPSTREAM; mirSVR-Score:-0.4867; mirSVR-E:-15.68 | GeneName:SNHG14; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000224078; TranscriptID:ENST00000557108; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.4867; mirSVR-E:-15.68 | GeneName:SNORD107; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000276314; TranscriptID:ENST00000459433; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.4867; mirSVR-E:-15.68 | GeneName:SNORD108; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000239014; TranscriptID:ENST00000459332; AnnoType:UPSTREAM; mirSVR-Score:-0.4867; mirSVR-E:-15.68 | GeneName:SNORD64; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000276610; TranscriptID:ENST00000386683; AnnoType:UPSTREAM; mirSVR-Score:-0.4867; mirSVR-E:-15.68 | GeneName:SNRPN; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000128739; TranscriptID:ENST00000645002; AnnoType:DOWNSTREAM; mirSVR-Score:-0.4867; mirSVR-E:-15.68 | GeneName:SNURF; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000273173; TranscriptID:ENST00000580062; AnnoType:DOWNSTREAM; mirSVR-Score:-0.4867; mirSVR-E:-15.68 | NCRV0000000167 27328823 mir-564 rs2292181 C N/a 17,008 ad cases and 37,154 controls EFO_0000249 N/A Decreasing risk Alzheimer's disease rs2292181-C of mir-564 and its dysfunction is significantly associated with the decreasing risk of Alzheimer's disease by using case-control analysis in 17,008 AD cases and 37,154 controls. 0.4 Genome-wide identification of microRNA-related variants associated with risk of Alzheimer's disease. case-control analysis hsa-mir-564 miRNA Alzheimers disease 0.33 AGAGGCCGGG(G > C)CCTCCGGGCG chr3: 44861942 0.9455,0.05451 0.94683358817533129,0.05316641182466870 Region score:0.63; TSS score:0.56; Unmatched score:0.92; Average GERP:-0.04540693069306929 GeneName:KIF15; CADD-Score:2; Consquence:intron,NMD; GeneID:ENSG00000163808; TranscriptID:ENST00000422209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR564; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000284498; TranscriptID:ENST00000385049; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000151602; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000684375; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TMEM42; CADD-Score:5; Consquence:synonymous; GeneID:ENSG00000169964; TranscriptID:ENST00000302392; AnnoType:SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000168 20195266 NONHSAT177958.1 rs11663206 ? N/A 421 european ancestry//214 african american//and 103 cases GO_0097336 N/A Associate Response to antipsychotic treatment rs11663206-? of NONHSAT177958.1 is significantly associated with the response to antipsychotic treatment by using GWAS analysis in 421 european ancestry//214 african american//and 103 cases(p-value = 2E-6 ;OR = ?). 0.4 Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs. genome-wide association analysis NONHSAT177958.1 lncRNA Response to risperidone 0.33 TTCCTAAATT(T > A,C)ACATAACTCA chr18: 70486384 0.2736,.,0.7264 0.26010607798165137,0.00934951580020387,0.73054440621814475 Region score:0.37; TSS score:0.23; Unmatched score:0.06; Average GERP:0.08556732673267323 GeneName:AC091305.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000278971; TranscriptID:ENST00000624049; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000169 28928442 NONHSAT149487.1 rs10494021 ? N/A 46,936 european ancestry cases//74,874 european ancestry controls EFO_0007904 N/A Associate Childhood ear infection rs10494021-? of NONHSAT149487.1 is significantly associated with the childhood ear infection by using GWAS analysis in 46,936 european ancestry cases//74,874 european ancestry controls(p-value = 7E-6 ;OR = 1.1399). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. genome-wide association analysis NONHSAT149487.1 lncRNA Susceptibility to childhood ear infection measurement 0.33 TTAGTAATTG(C > T)TACAGCTCCC chr1: 104741897 0.9864,0.01358 0.98877102446483180,0.01122897553516819 Region score:0.36; TSS score:0.54; Unmatched score:0.17; Average GERP:1.7878297029702983 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000170 26634245 NONHSAT179751.1 rs2316205 T N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs2316205-T of NONHSAT179751.1 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 1E-7 ;OR = 0.06). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT179751.1 lncRNA Pulmonary function measurement 0.33 AATTTTAAAT(T > C)GGATTATTAG chr19: 40840863 0.6178,0.3822 0.60278892711518858,0.39721107288481141 Region score:0.33; TSS score:0.15; Unmatched score:0.04; Average GERP:0 GeneName:AC008537.1; CADD-Score:2; Consquence:intron,NMD; GeneID:ENSG00000268797; TranscriptID:ENST00000601627; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC008537.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000269843; TranscriptID:ENST00000596135; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC008537.3; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000279108; TranscriptID:ENST00000623128; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CYP2A6; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000255974; TranscriptID:ENST00000301141; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000171 27863252 NONHSAT155096.1 rs1912580 C N/A 171,771 european ancestry individuals EFO_0009389 N/A Associate Sum eosinophil basophil counts rs1912580-C of NONHSAT155096.1 is significantly associated with the sum eosinophil basophil counts by using GWAS analysis in 171,771 european ancestry individuals(p-value = 3E-14 ;OR = 0.03775522). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT155096.1 lncRNA Sum of eosinophil and basophil counts 0.33 ATTGTGCCTA(G > C)GGGAGTTATA chr10: 8995019 0.8536,0.1464 0.84365443425076452,0.15634556574923547 Region score:0.23; TSS score:0.14; Unmatched score:0.06; Average GERP:-0.8022855445544554 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000172 27182965 NONHSAT160794.1 rs10892173 ? N/A 106,086 european ancestry cases//85,757 european ancestry controls HP_0000545 N/A Associate Myopia rs10892173-? of NONHSAT160794.1 is significantly associated with the myopia by using GWAS analysis in 106,086 european ancestry cases//85,757 european ancestry controls(p-value = 1E-11 ;OR = 1.051). 0.4 Detection and interpretation of shared genetic influences on 42 human traits. genome-wide association analysis NONHSAT160794.1 lncRNA Myopia 0.33 TCAGGGGCTG(C > T)GGAAGCCCCC chr11: 117801846 0.6871,0.3129 0.62261085626911314,0.37738914373088685 Region score:0.3; TSS score:0.66; Unmatched score:0.66; Average GERP:-0.6893821782178218 GeneName:DSCAML1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000177103; TranscriptID:ENST00000321322; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:FXYD2; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000137731; TranscriptID:ENST00000532119; AnnoType:3PRIME_UTR; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000173 26261633 miR34b/c rs4938723 C N/A 248 Kazakh patients with ESCC and 300 frequency matched control subjects EFO_0005922 N/A no significance for risk esophageal squamous cell carcinoma rs4938723-C of hsa-mir-34b and its dysfunction is not significantly associated with Esophageal squamous cell carcinoma by using case-control analysis in 248 Kazakh patients with ESCC and 300 frequency matched control subjects -0.4 Genetic variation in miR-100 rs1834306 is associated with decreased risk for esophageal squamous cell carcinoma in Kazakh patients in northwest China. case-control analysis hsa-mir-34b miRNA Esophageal squamous cell carcinoma -0.33 TTTGACCTAT(T > C)ACAGCTCTCA chr11: 111511840 0.7143,0.2857 0.67424025229357798,0.32575974770642201 Region score:0.24; TSS score:0.41; Unmatched score:0.71; Average GERP:-0.7293356435643562 GeneName:AP002008.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000254980; TranscriptID:ENST00000530283; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:BTG4; CADD-Score:2; Consquence:intron; GeneID:ENSG00000137707; TranscriptID:ENST00000356018; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:C11orf88; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000183644; TranscriptID:ENST00000332814; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR34B; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207811; TranscriptID:ENST00000385076; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR34C; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207562; TranscriptID:ENST00000384831; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000174 28540026 NONHSAT108925.2 rs9274390 T N/A schizophrenia cases and controls (see ripke//2014)cases//up to 1,190 controls EFO_0000692 N/A Associate Schizophrenia rs9274390-T of NONHSAT108925.2 is significantly associated with the schizophrenia by using GWAS analysis in schizophrenia cases and controls (see ripke//2014)cases//up to 1,190 controls(p-value = 2E-14 ;OR = 1.13). 0.4 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. genome-wide association analysis NONHSAT108925.2 lncRNA Schizophrenia 0.33 CCCTCCAGGA(C > G,T)TTCCTTCTGG chr6: 32664882 0.7997,.,0.2003 0.92344387104994903,0.00148923292558613,0.07506689602446483 Region score:0.3; TSS score:0.5; Unmatched score:0.7; Average GERP:1.023122772277228 GeneName:HLA-DQB1-AS1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000223534; TranscriptID:ENST00000419852; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HLA-DQB1; CADD-Score:7; Consquence:missense; GeneID:ENSG00000179344; TranscriptID:ENST00000374943; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000195701; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000175 28240269 NONHSAT200819.1 rs2289252 T N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0004694 N/A Associate Blood protein levels rs2289252-T of NONHSAT200819.1 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 5E-25 ;OR = 0.4419). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. genome-wide association analysis NONHSAT200819.1 lncRNA Factor xi measurement 0.33 GTCTCTCTCT(C > T)GCCCTCTCAT chr4: 186286227 0.6805,0.3195 0.64966392711518858,0.35033607288481141 Region score:0.4; TSS score:0.33; Unmatched score:0.68; Average GERP:-1.7349178217821788 GeneName:F11-AS1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000251165; TranscriptID:ENST00000505103; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:F11; CADD-Score:2; Consquence:intron; GeneID:ENSG00000088926; TranscriptID:ENST00000403665; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000176 27951730 WT1-AS rs10835908 G N/a 313 aml patients EFO_0000222 N/A No significance for prognosis Acute myeloid leukemia rs10835908-G of WT1-AS and its dysfunction is not significantly associated with acute myeloid leukemia by using analysis of sequence variation in 313 AML patients. -0.4 Long non-coding RNA GAS5 polymorphism predicts a poor prognosis of acute myeloid leukemia in Chinese patients via affecting hematopoietic reconstitution. analysis of sequence variation WT1-AS lncRNA Acute myeloid leukemia -0.33 N/A N/A N/A N/A N/A N/A NCRV0000000177 25683625 miR-605 rs2043556 G N/a 55 caucasian individuals with a germline tp53 mutation Orphanet_524 N/A Increasing risk Age of onset in li-fraumeni syndrome rs2043556-G of miR-605 and its dysfunction is significantly associated with the increasing risk of age of onset in Li-Fraumeni syndrome by using analysis of sequence variation in 55 Caucasian individuals with a germline TP53 mutation. By using the disease cell lines or tissues, the mutation of miR-605 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 A functional variant in miR-605 modifies the age of onset in Li-Fraumeni syndrome. analysis of sequence variation; Function hsa-mir-605 miRNA Li-fraumeni syndrome 0.593 AGATTTAGAA(T > C)CAAGTTAGGA chr10: 51299646 0.7404,0.2596 0.75316163353720693,0.24683836646279306 Region score:0.25; TSS score:0.08; Unmatched score:0.47; Average GERP:-0.3992871287128711 GeneName:AC069079.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000235279; TranscriptID:ENST00000419889; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR605; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207813; TranscriptID:ENST00000385078; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PRKG1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000185532; TranscriptID:ENST00000373980; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000178 23770605 NONHSAT172223.1 rs11636802 G N/A 2,179 european ancestry cases//6,221 european ancestry controls; 1,709 european ancestry cases//6,318 european ancestry controls EFO_0000095 N/A Associate Chronic lymphocytic leukemia rs11636802-G of NONHSAT172223.1 is significantly associated with the chronic lymphocytic leukemia by using GWAS analysis in 2,179 european ancestry cases//6,221 european ancestry controls; 1,709 european ancestry cases//6,318 european ancestry controls(p-value = 2E-13 ;OR = 1.41). 0.4 Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia. genome-wide association analysis NONHSAT172223.1 lncRNA Chronic lymphocytic leukemia 0.33 CCTGAGCAAT(A > G)AAGGCCACAA chr15: 56483399 0.9473,0.05272 0.91982033639143730,0.08017966360856269 Region score:0.35; TSS score:0.4; Unmatched score:0.09; Average GERP:-0.5440354455445544 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000179 22001757 NONHSAT067101.2 rs281377 T N/A up to 52,350 european ancestry individuals//up to 8,739 indian asian ancestry individuals EFO_0001421 N/A Associate Liver enzyme levels (alkaline phosphatase) rs281377-T of NONHSAT067101.2 is significantly associated with the liver enzyme levels (alkaline phosphatase) by using GWAS analysis in up to 52,350 european ancestry individuals//up to 8,739 indian asian ancestry individuals(p-value = 1E-15 ;OR = 1.8). 0.4 Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. genome-wide association analysis NONHSAT067101.2 lncRNA Liver disease 0.33 ACCACCTGAA(C > T)GACTGGATGG chr19: 48703346 0.504,0.496 0.57179376911314984,0.42820623088685015 Region score:0.22; TSS score:0.29; Unmatched score:0.35; Average GERP:0.683168316831683 GeneName:FUT2; CADD-Score:5; Consquence:synonymous; GeneID:ENSG00000176920; TranscriptID:ENST00000425340; AnnoType:SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000180 23251661 NONHSAT182510.1 rs1374313 G N/A 815 hispanic children from 263 families EFO_0003939 N/A Associate Obesity-related traits rs1374313-G of NONHSAT182510.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 9E-7 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. genome-wide association analysis NONHSAT182510.1 lncRNA Energy intake 0.33 CATGATGGAG(T > C)GATAAGACCA chr2: 119388079 0.4868,0.5132 0.44516118756371049,0.55483881243628950 Region score:0.25; TSS score:0.36; Unmatched score:0.29; Average GERP:-1.468916831683168 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000122367; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000181 24681820 miR-146a rs2910164 G N/A 355 cases and 362 controls in discovery set, meanwhile 647 cases and 660 controls in validation set, as well as RCC survival in 311 patients EFO_0000681 N/A no significance for risk renal cell carcinoma rs2910164-G of hsa-mir-146a and its dysfunction is not significantly associated with Renal cell carcinoma by using case-control analysis in 355 cases and 362 controls in discovery set, meanwhile 647 cases and 660 controls in validation set, as well as RCC survival in 311 patients -0.4 Genetic variations in microRNAs and the risk and survival of renal cell cancer. case-control analysis hsa-mir-146a miRNA Renal cell carcinoma -0.33 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 0 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000182 26634245 NONHSAT180592.1 rs139704751 T N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio rs139704751-T of NONHSAT180592.1 is significantly associated with the post bronchodilator fev1/fvc ratio by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 1E-6 ;OR = 0.59). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT180592.1 lncRNA Pulmonary function measurement 0.33 GCAGTGTGAC(G > A,T)TGCTTGTGTT chr19: 55224110 0.9998,.,0.0001997 0.99708524464831804,0.00001592762487257,0.00289882772680937 Region score:0.3; TSS score:0.31; Unmatched score:0.34; Average GERP:-0.46877009900990124 GeneName:AC010327.4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000267649; TranscriptID:ENST00000585911; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC010327.5; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000276570; TranscriptID:ENST00000586923; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TMEM86B; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180089; TranscriptID:ENST00000327042; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000183 22778062 SNORD115-30 rs56825076 G N/A N/A function N/A not significant changes in the structure function rs56825076-G of SNORD115-30 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in nan -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD115-30 snoRNA function -0.049 AGAGGTGATT(A > G)TTTAAAAATC chr15: 25225247 0.9722,0.02776 0.96925968399592252,0.03074031600407747 Region score:0.58; TSS score:0.09; Unmatched score:0.54; Average GERP:0.42369306930693024 GeneName:SNHG14; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000224078; TranscriptID:ENST00000453082; AnnoType:INTRONIC; mirSVR-Score:-0.1159; mirSVR-E:-8.74 | GeneName:SNORD115-27; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000201300; TranscriptID:ENST00000364430; AnnoType:DOWNSTREAM; mirSVR-Score:-0.1159; mirSVR-E:-8.74 | GeneName:SNORD115-28; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000200801; TranscriptID:ENST00000363931; AnnoType:DOWNSTREAM; mirSVR-Score:-0.1159; mirSVR-E:-8.74 | GeneName:SNORD115-29; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000199704; TranscriptID:ENST00000362834; AnnoType:DOWNSTREAM; mirSVR-Score:-0.1159; mirSVR-E:-8.74 | GeneName:SNORD115-30; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000200987; TranscriptID:ENST00000364117; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.1159; mirSVR-E:-8.74 | GeneName:SNORD115-31; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000202188; TranscriptID:ENST00000365318; AnnoType:UPSTREAM; mirSVR-Score:-0.1159; mirSVR-E:-8.74 | GeneName:SNORD115-32; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000200949; TranscriptID:ENST00000364079; AnnoType:UPSTREAM; mirSVR-Score:-0.1159; mirSVR-E:-8.74 | NCRV0000000184 28443625 NONHSAT004062.2 rs12401738 A N/A 98,173 european ancestry women//64,373 european ancestry men//5,829 european ancestry individuals//10,500 african american/afro-caribbean ancestry women//2,706 african american/afro-caribbean ancestry men//1,030 indian asian ancestry women//7,648 indian asian ancestry men//1,793 filipino ancestry women//2,944 hispanic/latino ancestry women//1,764 hispanic/latino ancestry men; 21,496 european ancestry women//24,385 european ancestry men//118,364 european ancestry individuals//2,326 african american/afro-caribbean ancestry women//855 african american/afro-caribbean ancestry men EFO_0001073 adjusted for smoking behaviour Associate Bmi (adjusted for smoking behaviour) rs12401738-A of NONHSAT004062.2 is significantly associated with the bmi (adjusted for smoking behaviour) by using GWAS analysis in 98,173 european ancestry women//64,373 european ancestry men//5,829 european ancestry individuals//10,500 african american/afro-caribbean ancestry women//2,706 african american/afro-caribbean ancestry men//1,030 indian asian ancestry women//7,648 indian asian ancestry men//1,793 filipino ancestry women//2,944 hispanic/latino ancestry women//1,764 hispanic/latino ancestry men; 21,496 european ancestry women//24,385 european ancestry men//118,364 european ancestry individuals//2,326 african american/afro-caribbean ancestry women//855 african american/afro-caribbean ancestry men(p-value = 4E-6 ;OR = 0.0208). 0.4 Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits. genome-wide association analysis NONHSAT004062.2 lncRNA Obesity 0.451 TTACCACAGT(G > A)CTATAATTTA chr1: 77981077 0.8448,0.1552 0.75448362640163098,0.24551637359836901 Region score:0.4; TSS score:0.28; Unmatched score:0.55; Average GERP:-0.3464877227722774 GeneName:DNAJB4; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000162616; TranscriptID:ENST00000487931; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:FUBP1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000162613; TranscriptID:ENST00000370768; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GIPC2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000137960; TranscriptID:ENST00000476882; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000008759; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000184 25673413 NONHSAT004062.2 rs12401738 A N/A up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals EFO_0001073 N/A Associate Body mass index rs12401738-A of NONHSAT004062.2 is significantly associated with the body mass index by using GWAS analysis in up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals(p-value = 2E-10 ;OR = 0.02). 0.4 Genetic studies of body mass index yield new insights for obesity biology. genome-wide association analysis NONHSAT004062.2 lncRNA Obesity 0.451 TTACCACAGT(G > A)CTATAATTTA chr1: 77981077 0.8448,0.1552 0.75448362640163098,0.24551637359836901 Region score:0.4; TSS score:0.28; Unmatched score:0.55; Average GERP:-0.3464877227722774 GeneName:DNAJB4; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000162616; TranscriptID:ENST00000487931; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:FUBP1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000162613; TranscriptID:ENST00000370768; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GIPC2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000137960; TranscriptID:ENST00000476882; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000008759; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000185 27126917 NONHSAT123553.2 rs146885652 A N/A 941 european ancestry individuals EFO_0008568 N/A Associate Night sleep phenotypes rs146885652-A of NONHSAT123553.2 is significantly associated with the night sleep phenotypes by using GWAS analysis in 941 european ancestry individuals(p-value = 3E-7 ;OR = 0.3099). 0.4 Genome-wide association analysis of actigraphic sleep phenotypes in the LIFE Adult Study. genome-wide association analysis NONHSAT123553.2 lncRNA Sleep disorder 0.33 N/A N/A N/A N/A N/A N/A NCRV0000000186 27636879 MIR4754 rs975947 T N/A 899 individuals with CRCs categorized by clinical subtypes and in 204 controls EFO_0005842 N/A increasing risk colorectal cancer rs975947-T of hsa-mir-4754 and its dysfunction is significantly associated with the increasing risk of Colorectal cancer by using case-control analysis in 899 individuals with CRCs categorized by clinical subtypes and in 204 controls 0.4 Germline miRNA DNA variants and the risk of colorectal cancer by subtype. case-control analysis hsa-mir-4754 miRNA Colorectal cancer 0.33 CACTGGGCCT(C > T)ACTCCGCTAA chr19: 58386826 0.6861,0.3139 0.63762264271151885,0.36237735728848114 Region score:0.51; TSS score:0.48; Unmatched score:0.96; Average GERP:-1.6183158415841585 GeneName:MIR4754; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000266640; TranscriptID:ENST00000582477; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000111872; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RPS5; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000083845; TranscriptID:ENST00000596046; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000187 28654678 NONHSAT162365.1 rs1161098 ? N/A 389 east asian ancestry individuals//189 south asian ancestry individuals//492 european ancestry individuals//467 sub-saharan african ancestry individuals//59 african american individuals//157 hispanic/latino individuals EFO_0000769 N/A Associate Epstein-barr virus copy number in lymphoblastoid cell lines rs1161098-? of NONHSAT162365.1 is significantly associated with the epstein-barr virus copy number in lymphoblastoid cell lines by using GWAS analysis in 389 east asian ancestry individuals//189 south asian ancestry individuals//492 european ancestry individuals//467 sub-saharan african ancestry individuals//59 african american individuals//157 hispanic/latino individuals(p-value = 5E-7 ;OR = ?). 0.4 Genetic factors affecting EBV copy number in lymphoblastoid cell lines derived from the 1000 Genome Project samples. genome-wide association analysis NONHSAT162365.1 lncRNA Epstein-barr virus infection 0.33 TGACTGGCGC(G > A)GCAGAATGAG chr12: 67453680 0.1573,0.8427 0.15064347604485219,0.84935652395514780 Region score:0.41; TSS score:0.33; Unmatched score:0.16; Average GERP:-0.43568118811881174 GeneName:LINC02408; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000203585; TranscriptID:ENST00000650195; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000188 28540026 NONHSAT187912.1 rs59979824 ? N/A up to 6,197 european ancestry asd cases//up to 7,377 european ancestry controls//up to 1,190 asd cases//up to 1,190 controls EFO_0003756 N/A Associate Autism spectrum disorder rs59979824-? of NONHSAT187912.1 is significantly associated with the autism spectrum disorder by using GWAS analysis in up to 6,197 european ancestry asd cases//up to 7,377 european ancestry controls//up to 1,190 asd cases//up to 1,190 controls(p-value = 6E-9 ;OR = 1.0638298). 0.4 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. genome-wide association analysis NONHSAT187912.1 lncRNA Autism spectrum disorder 0.33 TCCCCACAAT(C > A)TTGAATCATT chr2: 192983614 0.7326,0.2674 0.72769336136595310,0.27230663863404689 Region score:0.34; TSS score:0.14; Unmatched score:0.06; Average GERP:0.49718891089108946 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000189 28604730 NONHSAT157401.1 rs62621207 T N/A 29,266 european ancestry cases//56,450 european ancestry controls EFO_0001071 N/A Associate Lung cancer rs62621207-T of NONHSAT157401.1 is significantly associated with the lung cancer by using GWAS analysis in 29,266 european ancestry cases//56,450 european ancestry controls(p-value = 6E-7 ;OR = 1.1592233). 0.4 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. genome-wide association analysis NONHSAT157401.1 lncRNA Lung cancer 0.33 TCCCTCAGCA(A > T)ATTGTGACAG chr10: 100912491 0.9878,0.01218 0.96971362130479102,0.03028637869520897 Region score:0.42; TSS score:0.6; Unmatched score:0.93; Average GERP:0.16499009900990094 GeneName:AL138762.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000272572; TranscriptID:ENST00000608554; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000032556; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SLF2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000119906; TranscriptID:ENST00000370269; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000190 23342264 miR-142 chr17:56408658 T Dominant 56 DLBCL cases EFO_0000403 N/A increasing risk diffuse large B-cell lymphoma chr17:56408658-T of hsa-mir-142 and its dysfunction is significantly associated with the increasing risk of Diffuse large b-cell lymphoma by using analysis of sequence variation in 56 DLBCL cases 0.4 MicroRNA-142 is mutated in about 20% of diffuse large B-cell lymphoma. analysis of sequence variation hsa-mir-142 miRNA Diffuse large b-cell lymphoma 0.33 GTGCTTTCTA(C > T)TTTATGGGTG chr17:56408658 - - - GeneName:MIR4736; CADD_Score:1; Consquence:downstream; GeneID:ENSG00000264399; TranscriptID:ENST00000581591; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:BZRAP1; CADD_Score:1; Consquence:upstream; GeneID:ENSG00000005379; TranscriptID:ENST00000343736; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR142; CADD_Score:5; Consquence:noncoding_change; GeneID:ENSG00000265206; TranscriptID:ENST00000579003; AnnoType:NonCodingTranscript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD_Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000283927; AnnoType:RegulatoryFeature; mirSVR-Score:NA; mirSVR-E:NA | GeneName:BZRAP1-AS1; CADD_Score:2; Consquence:intronic; GeneID:ENSG00000265148; TranscriptID:ENST00000579527; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000191 29059683 NONHSAT158558.1 rs1696803 C N/A 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls EFO_0000305 N/A Associate Breast cancer rs1696803-C of NONHSAT158558.1 is significantly associated with the breast cancer by using GWAS analysis in 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls(p-value = 2E-45 ;OR = 0.116). 0.4 Association analysis identifies 65 new breast cancer risk loci. genome-wide association analysis NONHSAT158558.1 lncRNA Breast cancer 0.33 GTTCTTCCTG(T > C)TGTCTTGAAT chr10: 121677436 0.2119,0.7881 0.20897840214067278,0.79102159785932721 Region score:0.37; TSS score:0.29; Unmatched score:0.13; Average GERP:-1.1247812871287133 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000192 27328823 mir-1269b rs12451747 C N/A 17,008 AD cases and 37,154 controls EFO_0000249 N/A decreasing risk Alzheimer's disease rs12451747-C of hsa-mir-1269b and its dysfunction is significantly associated with the decreasing risk of Alzheimers disease by using case-control analysis in 17,008 AD cases and 37,154 controls 0.4 Genome-wide identification of microRNA-related variants associated with risk of Alzheimer's disease. case-control analysis hsa-mir-1269b miRNA Alzheimers disease 0.33 CAGAGAAGCC(A > C,T)GTAGCATGGC chr17: 12917315 0.605,0.395,. 0.56570145259938837,0.43428261977573904,0.00001592762487257 Region score:0.23; TSS score:0.24; Unmatched score:0.32; Average GERP:-0.2922376237623763 GeneName:ARHGAP44; CADD-Score:2; Consquence:intron; GeneID:ENSG00000006740; TranscriptID:ENST00000379672; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR1269B; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000265503; TranscriptID:ENST00000580405; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000193 24521023 miR-196a2 rs185070757 C N/a 236 patients with breast cancer and 203 healthy individuals. EFO_0000305 N/A No significance for risk Breast cancer rs185070757-C of miR-196a2 and its dysfunction is not significantly associated with breast cancer by using case-control analysis in 236 patients with breast cancer and 203 healthy individuals -0.4 hsa-mir-499 rs3746444 gene polymorphism is associated with susceptibility to breast cancer in an Iranian population. case-control analysis hsa-mir-196a-2 miRNA Breast cancer -0.33 GGTAGTTTCA(T > G)GTTGTTGGGA chr12: 53991774 N/A 0 Region score:0.66; TSS score:0.64; Unmatched score:0.91; Average GERP:3.6158019801980177 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000458651; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000194 27863252 NONHSAT168300.1 rs8020739 T N/A 170,672 european ancestry individuals EFO_0007994 N/A Associate Neutrophil percentage of granulocytes rs8020739-T of NONHSAT168300.1 is significantly associated with the neutrophil percentage of granulocytes by using GWAS analysis in 170,672 european ancestry individuals(p-value = 3E-9 ;OR = 0.02223488). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT168300.1 lncRNA Neutrophil percentage of granulocytes 0.33 GGCAGGAGGA(G > T)GGGAGTCACA chr14: 35413286 0.2913,0.7087 0.32963812436289500,0.67036187563710499 Region score:0.4; TSS score:0.46; Unmatched score:0.59; Average GERP:-1.0199084158415843 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000494827; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000195 25500335 NONHSAT010798.2 rs3811444 T N/A 2,633 individuals EFO_0005110 N/A Associate Red blood cell fatty acid levels rs3811444-T of NONHSAT010798.2 is significantly associated with the red blood cell fatty acid levels by using GWAS analysis in 2,633 individuals(p-value = 5E-11 ;OR = 0.127). 0.4 A genome-wide association study of saturated, mono- and polyunsaturated red blood cell fatty acids in the Framingham Heart Offspring Study. genome-wide association analysis NONHSAT010798.2 lncRNA Fatty acid measurement 0.33 GGGGAAACCA(C > T)GCCATCTCCT chr1: 247876149 0.7726,0.2274 0.74839927370030581,0.25160072629969418 Region score:0.13; TSS score:0.23; Unmatched score:0.34; Average GERP:0.6634764356435642 GeneName:TRIM58; CADD-Score:7; Consquence:missense; GeneID:ENSG00000162722; TranscriptID:ENST00000366481; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000196 23251661 NONHSAT205202.1 rs2173226 G N/A 815 hispanic children from 263 families EFO_0005093 N/A Associate Obesity-related traits rs2173226-G of NONHSAT205202.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 8E-6 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. genome-wide association analysis NONHSAT205202.1 lncRNA Hip circumference 0.33 GGACCAATCC(T > C)GGCCATCAAC chr5: 2724248 0.5751,0.4249 0.60504268603465851,0.39495731396534148 Region score:0.31; TSS score:0.39; Unmatched score:0.21; Average GERP:-0.6739831683168321 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000197 26537765 miR-196a2 rs11614913 C N/a 722 acute coronary syndrome patients and 721 control subjects EFO_0005672 N/A No significance for risk Acute coronary syndrome rs11614913-C of miR-196a2 and its dysfunction is not significantly associated with acute coronary syndrome by using case-control analysis in 722 acute coronary syndrome patients and 721 control subjects. -0.4 A Genetic Variant in Pre-miR-146a (rs2910164 C>G) Is Associated with the Decreased Risk of Acute Coronary Syndrome in a Chinese Population. case-control analysis hsa-mir-196a-2 miRNA Acute coronary syndrome -0.33 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000198 27989323 NONHSAT180817.1 rs28637706 G N/A 3,531 finnish ancestry individuals EFO_0005140 N/A Associate Beta-nerve growth factor levels rs28637706-G of NONHSAT180817.1 is significantly associated with the beta-nerve growth factor levels by using GWAS analysis in 3,531 finnish ancestry individuals(p-value = 1E-9 ;OR = 0.1589). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. genome-wide association analysis NONHSAT180817.1 lncRNA Autoimmune disease 0.33 TATTCACCCA(G > T)ATTGAACACG chr19: 33794463 0.6841,0.3159 0.63916762232415902,0.36083237767584097 Region score:0.47; TSS score:0.7; Unmatched score:0.69; Average GERP:1.9845227722772283 GeneName:KCTD15; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000153885; TranscriptID:ENST00000430256; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000199 21348951 NONHSAT108603.2 rs10947055 ? N/A 851 old order amish individuals EFO_0002503 N/A Associate Cardiac hypertrophy rs10947055-? of NONHSAT108603.2 is significantly associated with the cardiac hypertrophy by using GWAS analysis in 851 old order amish individuals(p-value = 2E-7 ;OR = ?). 0.4 Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality. genome-wide association analysis NONHSAT108603.2 lncRNA Cardiac hypertrophy 0.33 CTATGCCCAA(T > C)AACCCCAGAG chr6: 30125587 0.9028,0.09724 0.89227350917431192,0.10772649082568807 Region score:0.27; TSS score:0.23; Unmatched score:0.26; Average GERP:-0.5177831683168317 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000200 29047230 TMCC1-AS1 TMCC1-AS1 Amplification - Dominant Hepatocellular carcinoma and normal tissues using tcga rna sequencing data EFO_0000182 N/A Poor prognosis Hepatocellular carcinoma Amplification of TMCC1-AS1 and its dysfunction is significantly associated with the poor prognosis of hepatocellular carcinoma by using case-control analysis in hepatocellular carcinoma and normal tissues using TCGA RNA sequencing data. 0.4 A comprehensive genome-wide analysis of long noncoding RNA expression profile in hepatocellular carcinoma. analysis of sequence variation; Function TMCC1-AS1 lncRNA Hepatocellular cancer 0.33 N/A N/A N/A N/A N/A N/A NCRV0000000201 24306027 miR-29a rs1353592465 G Dominant 98 chronic lymphocytic leukemia patients(cll), additionally, the primary regions of mir-29b-2/29c and mir-16-1 were analyzed in another cohort of 213 and 193 cll patients EFO_0000095 N/A Increasing risk Chronic lymphocytic leukemia rs1353592465-G of miR-29a and its dysfunction is significantly associated with the increasing risk of chronic lymphocytic leukemia by using case-control analysis in 98 chronic lymphocytic leukemia patients(CLL), Additionally, the primary regions of miR-29b-2/29c and miR-16-1 were analyzed in another cohort of 213 and 193 CLL patients. 0.4 Identification of novel sequence variations in microRNAs in chronic lymphocytic leukemia. case-control analysis hsa-mir-29a miRNA Chronic lymphocytic leukemia 0.33 AGTCAGCATC(A > G)TGGTGCTCTT chr7: 130876725 N/A 0.99999203618756371,0.00000796381243628 N/A GeneName:AC016831.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000226380; TranscriptID:ENST00000432045; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC016831.7; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000285106; TranscriptID:ENST00000643779; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LINC00513; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000233559; TranscriptID:ENST00000447430; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR29A; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000284032; TranscriptID:ENST00000362111; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR29B1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000283797; TranscriptID:ENST00000385015; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000839486; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000202 27989323 NONHSAT151514.1 rs145155829 C N/A 8,293 finnish ancestry individuals EFO_0005140 N/A Associate Monocyte chemoattractant protein-1 levels rs145155829-C of NONHSAT151514.1 is significantly associated with the monocyte chemoattractant protein-1 levels by using GWAS analysis in 8,293 finnish ancestry individuals(p-value = 4E-6 ;OR = 0.2153). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. genome-wide association analysis NONHSAT151514.1 lncRNA Autoimmune disease 0.33 GTGATCCGCC(C > T)GCCTCGGCCT chr1: 43699975 0.9852,0.01478 0.97148158766564729,0.02851841233435270 Region score:0.47; TSS score:0.14; Unmatched score:0.19; Average GERP:0.09146534653465332 GeneName:AL451062.3; CADD-Score:2; Consquence:intron,NMD; GeneID:ENSG00000284989; TranscriptID:ENST00000645057; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:KDM4A-AS1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000236200; TranscriptID:ENST00000434346; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:KDM4A; CADD-Score:2; Consquence:intron; GeneID:ENSG00000066135; TranscriptID:ENST00000372396; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000203 28920960 EGFR-AS1 rs10251977 A dominant 2 patients with head and neck SCC (HNSCC) who were exceptional responders to gefitinib, and we showed in patient-derived cultures that the A/A genotype was associated with greater sensitivity to tyrosine kinase inhibitors (TKIs) as compared to the G/A and G/G genotypes. EFO_0000707 Gefitinib; Erlotinib; Afatinib; Dacomatinib; Lapatinib better prognosis squamous cell carcinoma rs10251977-A of EGFR-AS1 and its dysfunction is significantly associated with the better prognosis of Squamous cell carcinoma by using case-control analysis in 2 patients with head and neck SCC (HNSCC) who were exceptional responders to gefitinib, and we showed in patient-derived cultures that the A/A genotype was associated with greater sensitivity to tyrosine kinase inhibitors (TKIs) as compared to the G/A and G/G genotypes. 2 Long noncoding RNA EGFR-AS1 mediates epidermal growth factor receptor addiction and modulates treatment response in squamous cell carcinoma. case-control analysis EGFR-AS1 lncRNA Squamous cell carcinoma 0.865 - - - - - - NCRV0000000204 26192919 NONHSAT216433.1 rs6651252 A N/A 12,882 european ancestry cases//21,770 european ancestry controls; 25,273 european ancestry cases//26,715 european ancestry controls//548 iranian ancestry cases//342 iranian ancestry control//1,423 indian ancestry cases//990 indian ancestry controls//2,824 east asian ancestry cases//3,719 east asian ancestry controls EFO_0003767 N/A Associate Inflammatory bowel disease rs6651252-A of NONHSAT216433.1 is significantly associated with the inflammatory bowel disease by using GWAS analysis in 12,882 european ancestry cases//21,770 european ancestry controls; 25,273 european ancestry cases//26,715 european ancestry controls//548 iranian ancestry cases//342 iranian ancestry control//1,423 indian ancestry cases//990 indian ancestry controls//2,824 east asian ancestry cases//3,719 east asian ancestry controls(p-value = 9E-10 ;OR = 1.095103). 0.4 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. genome-wide association analysis NONHSAT216433.1 lncRNA Inflammatory bowel disease 0.451 AAAAGTGGGC(T > C)CTTTGAAATG chr8: 128554935 0.8476,0.1524 0.81607575178389398,0.18392424821610601 Region score:0.59; TSS score:0.59; Unmatched score:0.6; Average GERP:0.31220297029702965 GeneName:LINC00824; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000254275; TranscriptID:ENST00000523173; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000204 28067908 NONHSAT216433.1 rs6651252 ? N/A 25,042 european and unknown ancestry cases//34,915 european and unknown ancestry controls EFO_0003767 N/A Associate Inflammatory bowel disease rs6651252-? of NONHSAT216433.1 is significantly associated with the inflammatory bowel disease by using GWAS analysis in 25,042 european and unknown ancestry cases//34,915 european and unknown ancestry controls(p-value = 6E-7 ;OR = ?). 0.4 Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease. genome-wide association analysis NONHSAT216433.1 lncRNA Inflammatory bowel disease 0.451 AAAAGTGGGC(T > C)CTTTGAAATG chr8: 128554935 0.8476,0.1524 0.81607575178389398,0.18392424821610601 Region score:0.59; TSS score:0.59; Unmatched score:0.6; Average GERP:0.31220297029702965 GeneName:LINC00824; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000254275; TranscriptID:ENST00000523173; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000205 22778062 SNORD116-10 rs76593737 C N/a N/a function N/A Not significant changes in the structure Function rs76593737-C of SNORD116-10 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD116-10 snoRNA Function -0.049 GACTTACATA(T > C)ATACGTTTTT chr15: 25074135 0.9926,0.007388 0.99202025993883792,0.00797974006116207 Region score:0.58; TSS score:0.07; Unmatched score:0.36; Average GERP:0.17928816326530628 GeneName:SNHG14; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000224078; TranscriptID:ENST00000640631; AnnoType:INTRONIC; mirSVR-Score:-0.9250; mirSVR-E:-7.45 | GeneName:SNORD116-10; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000200661; TranscriptID:ENST00000363791; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.9250; mirSVR-E:-7.45 | GeneName:SNORD116-11; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000206609; TranscriptID:ENST00000383882; AnnoType:UPSTREAM; mirSVR-Score:-0.9250; mirSVR-E:-7.45 | GeneName:SNORD116-12; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207197; TranscriptID:ENST00000384468; AnnoType:UPSTREAM; mirSVR-Score:-0.9250; mirSVR-E:-7.45 | GeneName:SNORD116-13; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207137; TranscriptID:ENST00000384408; AnnoType:UPSTREAM; mirSVR-Score:-0.9250; mirSVR-E:-7.45 | GeneName:SNORD116-8; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207093; TranscriptID:ENST00000384365; AnnoType:DOWNSTREAM; mirSVR-Score:-0.9250; mirSVR-E:-7.45 | GeneName:SNORD116-9; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000206727; TranscriptID:ENST00000384000; AnnoType:DOWNSTREAM; mirSVR-Score:-0.9250; mirSVR-E:-7.45 | NCRV0000000206 26394269 NONHSAT207123.1 rs7774434 C N/A 2,764 european ancestry cases//10,475 european ancestry controls; 3,716 european ancestry cases// 4,261 european ancestry controls EFO_1001486 N/A Associate Primary biliary cholangitis rs7774434-C of NONHSAT207123.1 is significantly associated with the primary biliary cholangitis by using GWAS analysis in 2,764 european ancestry cases//10,475 european ancestry controls; 3,716 european ancestry cases// 4,261 european ancestry controls(p-value = 2E-56 ;OR = 1.68). 0.4 International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways. genome-wide association analysis NONHSAT207123.1 lncRNA Primary biliary cirrhosis 0.33 CAACTCAACA(T > C)CCCATGTCCT chr6: 32689801 0.5455,0.4545 0.60664341233435270,0.39335658766564729 Region score:0.47; TSS score:0.37; Unmatched score:0.41; Average GERP:-0.31292072916666663 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000207 27595289 NONHSAT173314.1 rs7192392 ? N/A 291 european ancestry recipients with acute graft versus host disease//288 european ancestry recipients without acute graft versus host disease EFO_0004599 N/A Associate Acute graft versus host disease in bone marrow transplantation (recipient effect) rs7192392-? of NONHSAT173314.1 is significantly associated with the acute graft versus host disease in bone marrow transplantation (recipient effect) by using GWAS analysis in 291 european ancestry recipients with acute graft versus host disease//288 european ancestry recipients without acute graft versus host disease(p-value = 2E-7 ;OR = ?). 0.4 Novel HLA-DP region susceptibility loci associated with severe acute GvHD. genome-wide association analysis NONHSAT173314.1 lncRNA Acute graft vs. host disease 0.33 CTAGACTGTT(G > A)TACTCCATTG chr16: 78898481 0.5958,0.4042 0.57064698012232415,0.42935301987767584 Region score:0.2; TSS score:0.12; Unmatched score:0.2; Average GERP:0.5570553465346534 GeneName:AC027279.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000260816; TranscriptID:ENST00000568885; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:WWOX; CADD-Score:2; Consquence:intron; GeneID:ENSG00000186153; TranscriptID:ENST00000566780; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000208 19812673 NONHSAT203858.1 rs10513025 ? N/A 1,553 cases from 1,031 families; 2,073 trios EFO_0003756 N/A Associate Autism rs10513025-? of NONHSAT203858.1 is significantly associated with the autism by using GWAS analysis in 1,553 cases from 1,031 families; 2,073 trios(p-value = 2E-7 ;OR = 1.81). 0.4 A genome-wide linkage and association scan reveals novel loci for autism. genome-wide association analysis NONHSAT203858.1 lncRNA Autism spectrum disorder 0.33 TTGTGCATGA(T > C)TCTCTATGGG chr5: 9623510 0.9483,0.05172 0.94486652650356778,0.05513347349643221 Region score:0.47; TSS score:0.37; Unmatched score:0.79; Average GERP:-1.4776287128712866 GeneName:AC026787.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000248525; TranscriptID:ENST00000504182; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000748285; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000209 25279986 NONHSAT159747.1 rs4938573 C N/A 2,728 european ancestry cases//7,758 european ancestry controls; 1,795 european ancestry cases//5,586 european ancestry controls EFO_0000096 N/A Associate Follicular lymphoma rs4938573-C of NONHSAT159747.1 is significantly associated with the follicular lymphoma by using GWAS analysis in 2,728 european ancestry cases//7,758 european ancestry controls; 1,795 european ancestry cases//5,586 european ancestry controls(p-value = 6E-20 ;OR = 1.34). 0.4 Genome-wide association study identifies five susceptibility loci for follicular lymphoma outside the HLA region. genome-wide association analysis NONHSAT159747.1 lncRNA Neoplasm of mature b-cells 0.33 ACAAACTTTA(C > T)TGAGCACCTA chr11: 118871133 0.1871,0.8129 0.21384429153924566,0.78615570846075433 Region score:0.31; TSS score:0.49; Unmatched score:0.39; Average GERP:-1.2090594059405948 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000444058; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000210 25378659 NONHSAT103342.2 rs12516208 C N/A 10,129 european ancestry individuals EFO_0006796 N/A Associate Very long-chain saturated fatty acid levels (fatty acid 20:0) rs12516208-C of NONHSAT103342.2 is significantly associated with the very long-chain saturated fatty acid levels (fatty acid 20:0) by using GWAS analysis in 10,129 european ancestry individuals(p-value = 4E-6 ;OR = 4.598). 0.4 Genetic loci associated with circulating levels of very long-chain saturated fatty acids. genome-wide association analysis NONHSAT103342.2 lncRNA Very long-chain saturated fatty acid measurement 0.33 CATTGCAAGT(G > C)AGATACAGCC chr5: 115961248 0.8472,0.1528 0.89565016564729867,0.10434983435270132 Region score:0.29; TSS score:0.55; Unmatched score:0.83; Average GERP:-0.23646435643564356 GeneName:LVRN; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000172901; TranscriptID:ENST00000357872; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000766494; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000211 19454037 NONHSAT205605.1 rs409045 ? N/A 101 european ancestry cases//101 european ancestry controls; 704 european ancestry individuals//1,467 african american individuals EFO_0003777 N/A Associate Left ventricular mass rs409045-? of NONHSAT205605.1 is significantly associated with the left ventricular mass by using GWAS analysis in 101 european ancestry cases//101 european ancestry controls; 704 european ancestry individuals//1,467 african american individuals(p-value = 8E-7 ;OR = 0.0101). 0.4 Genome-wide association study identifies single-nucleotide polymorphism in KCNB1 associated with left ventricular mass in humans: the HyperGEN Study. genome-wide association analysis NONHSAT205605.1 lncRNA Heart disease 0.33 CTTACAAAAT(C > T)CCTAATGAAC chr5: 34628522 0.2682,0.7318 0.33962474515800203,0.66037525484199796 Region score:0.19; TSS score:0.24; Unmatched score:0.16; Average GERP:-0.6488536082474224 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000752136; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000212 23382691 NONHSAT210406.1 rs3097645 C N/A 2,247 european ancestry individuals EFO_0002690 N/A Associate Igg glycosylation rs3097645-C of NONHSAT210406.1 is significantly associated with the igg glycosylation by using GWAS analysis in 2,247 european ancestry individuals(p-value = 6E-7 ;OR = 0.2253). 0.4 Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. genome-wide association analysis NONHSAT210406.1 lncRNA Systemic lupus erythematosus 0.33 TATATTGTCC(G > C,T)TTATGACACC chr6: 32985503 0.08506,0.9149,. 0.07589513251783893,0.91415806574923547,0.00994680173292558 Region score:0.29; TSS score:0.23; Unmatched score:0.21; Average GERP:-0.19753861386138624 GeneName:BRD2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000204256; TranscriptID:ENST00000395287; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000320318; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000213 26105758 NONHSAT182110.1 rs7428 ? N/A 4,919 latin american individuals EFO_0007665 N/A Associate Ear protrusion rs7428-? of NONHSAT182110.1 is significantly associated with the ear protrusion by using GWAS analysis in 4,919 latin american individuals(p-value = 8E-7 ;OR = ?). 0.4 A genome-wide association study identifies multiple loci for variation in human ear morphology. genome-wide association analysis NONHSAT182110.1 lncRNA Ear protrusion 0.33 TGACATACTA(T > C)ACAGCTCAGA chr2: 85318367 0.6248,0.3752 0.67333237767584097,0.32666762232415902 Region score:0.51; TSS score:0.71; Unmatched score:0.68; Average GERP:-0.8920673267326732 GeneName:AC093162.2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000246575; TranscriptID:ENST00000501107; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0209; mirSVR-E:-16.20 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000611755; AnnoType:REGULATORY; mirSVR-Score:-0.0209; mirSVR-E:-16.20 | GeneName:TGOLN2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000152291; TranscriptID:ENST00000409232; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0209; mirSVR-E:-16.20 | NCRV0000000214 20347265 microRNA-30e rs178077483 T N/A 456 patients with schizophrenia EFO_0000692 N/A increasing risk schizophrenia rs178077483-T of hsa-mir-30e and its dysfunction is significantly associated with the increasing risk of Schizophrenia by using analysis of sequence variation in 456 patients with schizophrenia 0.4 MicroRNAs and target site screening reveals a pre-microRNA-30e variant associated with schizophrenia. analysis of sequence variation hsa-mir-30e miRNA Schizophrenia 0.33 - - - - - - NCRV0000000215 28604730 NONHSAT172450.1 rs145474218 C N/A 2,664 european ancestry cases// 21,444 european ancestry controls EFO_0000702 N/A Associate Small cell lung carcinoma rs145474218-C of NONHSAT172450.1 is significantly associated with the small cell lung carcinoma by using GWAS analysis in 2,664 european ancestry cases// 21,444 european ancestry controls(p-value = 3E-6 ;OR = 1.9609474). 0.4 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. genome-wide association analysis NONHSAT172450.1 lncRNA Small cell lung cancer 0.33 CCTTGTCTAC(T > C)TCAAATCACC chr15: 97438904 0.9926,0.007388 0.99080179663608562,0.00919820336391437 Region score:0.34; TSS score:0.2; Unmatched score:0.09; Average GERP:0.18867741935483873 GeneName:LINC02254; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000259664; TranscriptID:ENST00000558621; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000216 23382691 NONHSAT127168.2 rs13272623 G N/A 2,247 european ancestry individuals EFO_0002690 N/A Associate Igg glycosylation rs13272623-G of NONHSAT127168.2 is significantly associated with the igg glycosylation by using GWAS analysis in 2,247 european ancestry individuals(p-value = 2E-6 ;OR = 0.2155). 0.4 Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. genome-wide association analysis NONHSAT127168.2 lncRNA Systemic lupus erythematosus 0.33 AGTCGCAAGA(T > G)AAATACACAG chr8: 70632513 0.7959,0.2041 0.77526917686034658,0.22473082313965341 Region score:0.33; TSS score:0.16; Unmatched score:0.36; Average GERP:0.3325742574257426 GeneName:LACTB2-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000246366; TranscriptID:ENST00000499227; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LACTB2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000147592; TranscriptID:ENST00000276590; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000858493; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000217 27182965 NONHSAT106677.2 rs7763441 ? N/A 69,284 european ancestry individuals EFO_0007906 N/A Associate Monobrow rs7763441-? of NONHSAT106677.2 is significantly associated with the monobrow by using GWAS analysis in 69,284 european ancestry individuals(p-value = 4E-13 ;OR = 0.027). 0.4 Detection and interpretation of shared genetic influences on 42 human traits. genome-wide association analysis NONHSAT106677.2 lncRNA Synophrys measurement 0.33 ATCAGAAACA(T > G)CACCGTTGCA chr6: 2452463 0.4343,0.5657 0.51294915902140672,0.48705084097859327 Region score:0.37; TSS score:0.34; Unmatched score:0.13; Average GERP:-1.1220435643564355 GeneName:GMDS-DT; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000250903; TranscriptID:ENST00000606884; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000218 30215231 miR-146a rs2910164 C N/A 100 hepatocellular carcinoma patients (70 males and 30 females) and 120 healthy controls (70 males and 50 females) in an Iranian Population. EFO_0000182 N/A no significance for risk hepatocellular carcinoma rs2910164-C of hsa-mir-146a and its dysfunction is not significantly associated with Hepatocellular carcinoma by using case-control analysis in 100 hepatocellular carcinoma patients (70 males and 30 females) and 120 healthy controls (70 males and 50 females) in an Iranian Population. -0.4 Association of MicroRNA Polymorphisms With Hepatocellular Carcinoma in an Iranian Population. case-control analysis hsa-mir-146a miRNA Hepatocellular carcinoma -0.352 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 0 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000218 26152337 hsa-mir-146a rs2910164 C N/A 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A no significance for risk hepatocellular carcinoma rs2910164-C of hsa-mir-146a and its dysfunction is not significantly associated with Hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors -0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. case-control analysis hsa-mir-146a miRNA Hepatocellular carcinoma -0.352 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 0 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000218 28148887 miR-146a rs2910164 G Dominant 3852 hepatocellular carcinoma cases and 5275 controls EFO_0000182 N/A Increasing risk Hepatocellular carcinoma rs2910164-G of miR-146a and its dysfunction is significantly associated with the increasing risk of hepatocellular carcinoma by using meta-analysis in 3852 hepatocellular carcinoma cases and 5275 controls. 0.4 MiR-146a and miR-196a-2 polymorphisms are associated with hepatitis virus-related hepatocellular cancer risk: a meta-analysis. meta-analysis hsa-mir-146a miRNA Hepatocellular cancer -0.352 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 N/A 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000218 24301908 miR-146a rs2910164 C N/a 172 hepatocellular carcinoma patients and 185 cancer-free controls EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs2910164-C of miR-146a and its dysfunction is not significantly associated with hepatocellular carcinoma by using case-control analysis in 172 hepatocellular carcinoma patients and 185 cancer-free controls. -0.4 miR-499A>G rs3746444 and miR-146aG>C expression and hepatocellular carcinoma risk in the Chinese population. case-control analysis hsa-mir-146a miRNA Hepatocellular cancer -0.352 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 N/A 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000218 21861697 miR-146a rs2910164 G N/A 186 primary liver cancer cases and 483 healthy controls EFO_0000182 N/A no significance for risk hepatocellular carcinoma rs2910164-G of hsa-mir-146a and its dysfunction is not significantly associated with Hepatocellular carcinoma by using case-control analysis in 186 primary liver cancer cases and 483 healthy controls -0.4 Association between two genetic variants in miRNA and primary liver cancer risk in the Chinese population. case-control analysis hsa-mir-146a miRNA Hepatocellular carcinoma -0.352 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 0 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000219 26301688 NONHSAT200929.1 rs7672495 C N/A 97 european ancestry thyroiditis cases//107 european ancestry ankylosing spondylitis cases//100 european ancestry psoriasis cases//173 european ancestry celiac disease cases//254 european ancestry systemic lupus erythematosus cases//308 european ancestry common variable inmunodeficiency cases//865 european ancestry ulcerative colitis cases//1,086 european ancestry type 1 diabetes cases//1,123 european ancestry juvenile idiopathic arthritis cases//1,922 european ancestry crohn's disease cases//10,718 european ancestry controls EFO_0000540 N/A Associate Pediatric autoimmune diseases rs7672495-C of NONHSAT200929.1 is significantly associated with the pediatric autoimmune diseases by using GWAS analysis in 97 european ancestry thyroiditis cases//107 european ancestry ankylosing spondylitis cases//100 european ancestry psoriasis cases//173 european ancestry celiac disease cases//254 european ancestry systemic lupus erythematosus cases//308 european ancestry common variable inmunodeficiency cases//865 european ancestry ulcerative colitis cases//1,086 european ancestry type 1 diabetes cases//1,123 european ancestry juvenile idiopathic arthritis cases//1,922 european ancestry crohn's disease cases//10,718 european ancestry controls(p-value = 1E-7 ;OR = ?). 0.4 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases. genome-wide association analysis NONHSAT200929.1 lncRNA Immune system disease 0.33 GAGGGCTGGA(T > C)TGGGTTAGGG chr4: 4990640 0.7266,0.2734 0.78776439857288481,0.21223560142711518 Region score:0.42; TSS score:0.45; Unmatched score:0.31; Average GERP:-0.6217957425742574 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000715799; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000715800; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000220 28270201 NONHSAT170325.1 rs187209742 G N/A 19,695 british ancestry individuals from 6863 families. EFO_0007788 N/A Associate Waist-to-hip ratio adjusted for body mass index rs187209742-G of NONHSAT170325.1 is significantly associated with the waist-to-hip ratio adjusted for body mass index by using GWAS analysis in 19,695 british ancestry individuals from 6863 families.(p-value = 5E-8 ;OR = 0.7211519). 0.4 Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants. genome-wide association analysis NONHSAT170325.1 lncRNA Bmi-adjusted waist-hip ratio 0.33 TACCCCTTGA(T > C,G)ATGGTCTGTC chr14: 94296173 0.9998,.,0.0001997 0.99936289500509683,0.00000796381243628,0.00062914118246687 Region score:0.38; TSS score:0.27; Unmatched score:0.23; Average GERP:-0.10266633663366356 GeneName:SERPINA10; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000140093; TranscriptID:ENST00000261994; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000221 28928442 NONHSAT108741.2 rs9263868 ? N/A 16,711 european ancestry cases//118,152 european ancestry controls EFO_0008401 N/A Associate Shingles rs9263868-? of NONHSAT108741.2 is significantly associated with the shingles by using GWAS analysis in 16,711 european ancestry cases//118,152 european ancestry controls(p-value = 4E-21 ;OR = 0.1525). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. genome-wide association analysis NONHSAT108741.2 lncRNA Susceptibility to shingles measurement 0.33 GTGCTTCTGT(G > A)CCAGGCATTT chr6: 31200620 0.8622,0.1378 0.83093622579001019,0.16906377420998980 Region score:0.19; TSS score:0.11; Unmatched score:0.35; Average GERP:0.1793564356435642 GeneName:AL662844.3; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000271821; TranscriptID:ENST00000606909; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AL662844.4; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000272501; TranscriptID:ENST00000606367; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HCG27; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000206344; TranscriptID:ENST00000383331; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000222 28240269 NONHSAT159724.1 rs12099358 A N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0008034 N/A Associate Blood protein levels rs12099358-A of NONHSAT159724.1 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 2E-26 ;OR = 0.6234). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. genome-wide association analysis NONHSAT159724.1 lncRNA Beta-endorphin measurement 0.33 ACCCAACCCA(C > A)AGGCTACTTA chr11: 116855332 0.7776,0.2224 0.75943711773700305,0.24056288226299694 Region score:0.41; TSS score:0.28; Unmatched score:0.37; Average GERP:-0.7377008910891089 GeneName:APOA1-AS; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000235910; TranscriptID:ENST00000444200; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SIK3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000160584; TranscriptID:ENST00000375300; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000223 28928442 NONHSAT207053.1 rs3131856 ? N/A 4,426 european ancestry cases//84,290 european ancestry controls EFO_0008407 N/A Associate Tuberculosis rs3131856-? of NONHSAT207053.1 is significantly associated with the tuberculosis by using GWAS analysis in 4,426 european ancestry cases//84,290 european ancestry controls(p-value = 1E-7 ;OR = 0.1953). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. genome-wide association analysis NONHSAT207053.1 lncRNA Susceptibility to mycobacterium tuberculosis infection measurement 0.33 CAGAAATGTA(T > C)TTCTGACAGT chr6: 29639324 0.9824,0.01757 0.94071738022426095,0.05928261977573904 Region score:0.24; TSS score:0.27; Unmatched score:0.2; Average GERP:-0.3475160990099008 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000787118; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SUMO2P1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000235238; TranscriptID:ENST00000445436; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000224 27322543 NONHSAT201231.1 rs7684253 ? N/A 59,674 european ancestry cases//316,078 european ancestry controls EFO_0003821 N/A Associate Migraine rs7684253-? of NONHSAT201231.1 is significantly associated with the migraine by using GWAS analysis in 59,674 european ancestry cases//316,078 european ancestry controls(p-value = 3E-9 ;OR = 1.0416667). 0.4 Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine. genome-wide association analysis NONHSAT201231.1 lncRNA Migraine disorder 0.33 GGCTCTATCG(C > T)TAGACATTCG chr4: 56861145 0.5501,0.4499 0.46982511467889908,0.53017488532110091 Region score:0.36; TSS score:0.34; Unmatched score:0.1; Average GERP:-0.05179405940594063 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000724551; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000225 26886638 miR-608 rs4919510 G N/a 1143 subjects (controls = 583; breast cancer = 560) EFO_0000305 N/A No significance for risk Breast cancer rs4919510-G of miR-608 and its dysfunction is not significantly associated with breast cancer by using case-control analysis in 1143 subjects (controls = 583; breast cancer = 560). -0.4 The Associations of Single Nucleotide Polymorphisms in miR196a2, miR-499, and miR-608 With Breast Cancer Susceptibility: A STROBE-Compliant Observational Study. case-control analysis hsa-mir-608 miRNA Breast cancer -0.181 TGGGACAGCT(C > G)CGTTTAAAAA chr10: 100975021 0.6362,0.3638 0.70305332568807339,0.29694667431192660 Region score:0.54; TSS score:0.1; Unmatched score:0.51; Average GERP:-0.18896138613861369 GeneName:MIR608; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207551; TranscriptID:ENST00000384820; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MRPL43; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000055950; TranscriptID:ENST00000318325; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SEMA4G; CADD-Score:2; Consquence:intron; GeneID:ENSG00000095539; TranscriptID:ENST00000210633; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000225 27031722 miR-608 rs4919510 G Dominant 160 women with breast cancer and 192 age-matched healthy women EFO_0000305 N/A Decreasing risk Breast cancer rs4919510-G of miR-608 and its dysfunction is significantly associated with the decreasing risk of breast cancer by using case-control analysis in 160 women with breast cancer and 192 age-matched healthy women. 0.4 miR-608 rs4919510 C>G polymorphism decreased the risk of breast cancer in an Iranian subpopulation. case-control analysis hsa-mir-608 miRNA Breast cancer -0.181 TGGGACAGCT(C > G)CGTTTAAAAA chr10: 100975021 0.6362,0.3638 0.70305332568807339,0.29694667431192660 Region score:0.54; TSS score:0.1; Unmatched score:0.51; Average GERP:-0.18896138613861369 GeneName:MIR608; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207551; TranscriptID:ENST00000384820; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MRPL43; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000055950; TranscriptID:ENST00000318325; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SEMA4G; CADD-Score:2; Consquence:intron; GeneID:ENSG00000095539; TranscriptID:ENST00000210633; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000225 27421647 miR-608 rs4919510 G N/a 440 breast cancer cases and 807 controls EFO_0000305 N/A No significance for risk Breast cancer rs4919510-G of miR-608 and its dysfunction is not significantly associated with breast cancer by using case-control analysis in 440 breast cancer cases and 807 controls. -0.4 Association of single nucleotide polymorphisms in Pre-miR-27a, Pre-miR-196a2, Pre-miR-423, miR-608 and Pre-miR-618 with breast cancer susceptibility in a South American population. case-control analysis hsa-mir-608 miRNA Breast cancer -0.181 TGGGACAGCT(C > G)CGTTTAAAAA chr10: 100975021 0.6362,0.3638 0.70305332568807339,0.29694667431192660 Region score:0.54; TSS score:0.1; Unmatched score:0.51; Average GERP:-0.18896138613861369 GeneName:MIR608; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207551; TranscriptID:ENST00000384820; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MRPL43; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000055950; TranscriptID:ENST00000318325; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SEMA4G; CADD-Score:2; Consquence:intron; GeneID:ENSG00000095539; TranscriptID:ENST00000210633; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000226 28039263 NONHSAT070377.2 rs12615153 T N/A 511 european ancestry testicular cancer survivor individuals; 238 children EFO_0006951 N/A Associate Cisplatin-induced ototoxicity rs12615153-T of NONHSAT070377.2 is significantly associated with the cisplatin-induced ototoxicity by using GWAS analysis in 511 european ancestry testicular cancer survivor individuals; 238 children(p-value = 6E-6 ;OR = 4.529). 0.4 Variants in WFS1 and Other Mendelian Deafness Genes Are Associated with Cisplatin-Associated Ototoxicity. genome-wide association analysis NONHSAT070377.2 lncRNA Ototoxicity 0.33 GTTTGACTTT(T > C,G)AACATCTTTG chr2: 43093990 0.6929,.,0.3071 0.68968208460754332,0.00000796381243628,0.31030995158002038 Region score:0.25; TSS score:0.2; Unmatched score:0.15; Average GERP:0.39846732673267293 GeneName:LINC02580; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000230587; TranscriptID:ENST00000434020; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RNU6-242P; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207087; TranscriptID:ENST00000384359; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000227 22778062 SNORD115-20 rs79423059 C N/A N/A function N/A not significant changes in the structure function rs79423059-C of SNORD115-20 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in nan -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD115-20 snoRNA function -0.049 GTTGGGTCGA(T > C)GATGAGAACC chr15: 25206269 0.9972,0.002796 0.99508632772680937,0.00491367227319062 Region score:0.54; TSS score:0.13; Unmatched score:0.53; Average GERP:-0.3264386138613854 GeneName:SNHG14; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000224078; TranscriptID:ENST00000424333; AnnoType:INTRONIC; mirSVR-Score:-0.1374; mirSVR-E:-16.02 | GeneName:SNORD115-17; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000201482; TranscriptID:ENST00000364612; AnnoType:DOWNSTREAM; mirSVR-Score:-0.1374; mirSVR-E:-16.02 | GeneName:SNORD115-18; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000200163; TranscriptID:ENST00000363293; AnnoType:DOWNSTREAM; mirSVR-Score:-0.1374; mirSVR-E:-16.02 | GeneName:SNORD115-19; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000199968; TranscriptID:ENST00000363098; AnnoType:DOWNSTREAM; mirSVR-Score:-0.1374; mirSVR-E:-16.02 | GeneName:SNORD115-20; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000201969; TranscriptID:ENST00000365099; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.1374; mirSVR-E:-16.02 | GeneName:SNORD115-21; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000199833; TranscriptID:ENST00000362963; AnnoType:UPSTREAM; mirSVR-Score:-0.1374; mirSVR-E:-16.02 | GeneName:SNORD115-22; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000201326; TranscriptID:ENST00000364456; AnnoType:UPSTREAM; mirSVR-Score:-0.1374; mirSVR-E:-16.02 | NCRV0000000228 22837378 NONHSAT156172.1 rs181654 ? N/A up to 3,368 european ancestry cases//up to 29,507 european ancestry controls; 331 european ancestry cases//2,550 european ancestry controls EFO_0003892 N/A Associate Airflow obstruction rs181654-? of NONHSAT156172.1 is significantly associated with the airflow obstruction by using GWAS analysis in up to 3,368 european ancestry cases//up to 29,507 european ancestry controls; 331 european ancestry cases//2,550 european ancestry controls(p-value = 1E-7 ;OR = 1.23). 0.4 Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction. genome-wide association analysis NONHSAT156172.1 lncRNA Pulmonary function measurement 0.33 GAAGCCAGAG(A > G)TCTGTCACTG chr10: 117620145 0.3554,0.6446 0.37102605759429153,0.62897394240570846 Region score:0.4; TSS score:0.46; Unmatched score:0.15; Average GERP:-0.7243237623762373 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000229 27989323 NONHSAT205301.1 rs17269205 G N/A 8,290 finnish ancestry individuals EFO_0005140 N/A Associate Stem cell factor levels rs17269205-G of NONHSAT205301.1 is significantly associated with the stem cell factor levels by using GWAS analysis in 8,290 finnish ancestry individuals(p-value = 8E-6 ;OR = 0.6593). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. genome-wide association analysis NONHSAT205301.1 lncRNA Autoimmune disease 0.33 TGGAGAGGAC(G > A,C)TGCATCACCT chr5: 8058144 0.9764,.,0.02356 0.98423961518858307,.,0.01576038481141692 Region score:0.22; TSS score:0.28; Unmatched score:0.2; Average GERP:-1.1067433663366335 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000748012; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000230 22780124 NONHSAT174480.1 rs8064100 A N/A 1,312 european ancestry twins from 894 families EFO_0004699 N/A Associate Gambling rs8064100-A of NONHSAT174480.1 is significantly associated with the gambling by using GWAS analysis in 1,312 european ancestry twins from 894 families(p-value = 3E-6 ;OR = 0.148). 0.4 Genome-wide association study of a quantitative disordered gambling trait. genome-wide association analysis NONHSAT174480.1 lncRNA Gambling behaviour 0.33 CCCGGAACCT(A > G)CACCAGTGGG chr16: 56691261 0.7636,0.2364 0.68964226554536187,0.31035773445463812 Region score:0.25; TSS score:0.33; Unmatched score:0.25; Average GERP:-0.3172643564356436 GeneName:AC026461.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000259827; TranscriptID:ENST00000567563; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:DPPA2P4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000261429; TranscriptID:ENST00000563717; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000231 18356149 miR-520e rs371021430 C Dominant >100 human tumor tissues and 20 cancer cell lines EFO_0005842 N/A Increasing risk Colorectal cancer rs371021430-C of miR-520e and its dysfunction is significantly associated with the increasing risk of colorectal cancer by using case-control analysis in >100 human tumor tissues and 20 cancer cell lines. 0.4 Genetic variations of microRNAs in human cancer and their effects on the expression of miRNAs. case-control analysis hsa-mir-520e miRNA Colorectal cancer 0.33 TTTGAGGGTT(A > C)CTGTTTGAGA chr19: 53675787 N/A 0.99994425331294597,0.00005574668705402 N/A GeneName:MIR1323; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000221017; TranscriptID:ENST00000408090; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR498; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207869; TranscriptID:ENST00000385134; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR515-1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207616; TranscriptID:ENST00000384884; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR519E; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207810; TranscriptID:ENST00000385075; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR520E; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207599; TranscriptID:ENST00000384867; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000232 24390342 NONHSAT154173.1 rs2317230 T N/A up to 14,361 european ancestry cases//up to 42,923 european ancestry controls//up to 4,873 east asian ancestry cases//up to 17,642 east asian ancestry controls; up to 3,775 european ancestry cases//up to 5,801 european ancestry controls//up to 6,871 east asian ancestry cases//up to 6,392 east asian ancestry controls EFO_0000685 N/A Associate Rheumatoid arthritis rs2317230-T of NONHSAT154173.1 is significantly associated with the rheumatoid arthritis by using GWAS analysis in up to 14,361 european ancestry cases//up to 42,923 european ancestry controls//up to 4,873 east asian ancestry cases//up to 17,642 east asian ancestry controls; up to 3,775 european ancestry cases//up to 5,801 european ancestry controls//up to 6,871 east asian ancestry cases//up to 6,392 east asian ancestry controls(p-value = 2E-7 ;OR = 1.07). 0.4 Genetics of rheumatoid arthritis contributes to biology and drug discovery. genome-wide association analysis NONHSAT154173.1 lncRNA Rheumatoid arthritis 0.33 TTATTGAGAG(G > T)TTTTAACATG chr1: 157705207 0.4297,0.5703 0.43592316513761467,0.56407683486238532 Region score:0.2; TSS score:0.11; Unmatched score:0.1; Average GERP:0.14663366336633665 GeneName:AL356276.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000231700; TranscriptID:ENST00000435919; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:FCRL3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000160856; TranscriptID:ENST00000368186; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000233 22359512 NONHSAT188483.1 rs680379 ? N/A 4,034 european ancestry individuals EFO_0000677 N/A Associate Sphingolipid levels rs680379-? of NONHSAT188483.1 is significantly associated with the sphingolipid levels by using GWAS analysis in 4,034 european ancestry individuals(p-value = 2E-16 ;OR = 0.0). 0.4 Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations. genome-wide association analysis NONHSAT188483.1 lncRNA Mental or behavioural disorder 0.451 AAGCCACAAC(A > G,T)TTGATTCAAG chr20: 12988752 0.2917,0.7083,. 0.31064443170234454,0.68841583843017329,0.00093972986748216 Region score:0.35; TSS score:0.17; Unmatched score:0.03; Average GERP:-0.7529178217821783 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000233 19798445 NONHSAT188483.1 rs680379 A N/A 4,110 european ancestry individuals EFO_0000677 N/A Associate Sphingolipid levels rs680379-A of NONHSAT188483.1 is significantly associated with the sphingolipid levels by using GWAS analysis in 4,110 european ancestry individuals(p-value = 8E-15 ;OR = 0.1). 0.4 Genetic determinants of circulating sphingolipid concentrations in European populations. genome-wide association analysis NONHSAT188483.1 lncRNA Mental or behavioural disorder 0.451 AAGCCACAAC(A > G,T)TTGATTCAAG chr20: 12988752 0.2917,0.7083,. 0.31064443170234454,0.68841583843017329,0.00093972986748216 Region score:0.35; TSS score:0.17; Unmatched score:0.03; Average GERP:-0.7529178217821783 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000234 23828613 pre-miR-34a rs72631823 A N/A pancreatic beta cells EFO_0001360 N/A increasing risk type II diabetes mellitus rs72631823-A of hsa-mir-34a and its dysfunction is significantly associated with the increasing risk of Type ii diabetes mellitus by using analysis of sequence variation in pancreatic beta cells 0.9 A rare SNP in pre-miR-34a is associated with increased levels of miR-34a in pancreatic beta cells. analysis of sequence variation hsa-mir-34a miRNA Type ii diabetes mellitus 0.593 TGCTTCCTTA(C > T)TATTGCTCAC chr1: 9151723 0.999,0.0009984 0.99960977319062181,0.00039022680937818 Region score:0.49; TSS score:0.48; Unmatched score:0.65; Average GERP:3.979267326732669 GeneName:MIR34A; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000284357; TranscriptID:ENST00000385130; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR34AHG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000228526; TranscriptID:ENST00000635687; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000346642; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000235 25918132 NONHSAT156452.1 rs55816310 A N/A 74 european ancestry cases//824 european ancestry controls EFO_0000270 N/A Associate Diisocyanate-induced asthma rs55816310-A of NONHSAT156452.1 is significantly associated with the diisocyanate-induced asthma by using GWAS analysis in 74 european ancestry cases//824 european ancestry controls(p-value = 1E-6 ;OR = 33.91). 0.4 Genome-Wide Association Study Identifies Novel Loci Associated With Diisocyanate-Induced Occupational Asthma. genome-wide association analysis NONHSAT156452.1 lncRNA Asthma 0.33 GCGAGTGGCC(G > A)TCGGATGCAC chr10: 133019423 0.9728,0.02716 0.97340883027522935,0.02659116972477064 Region score:0.27; TSS score:0.38; Unmatched score:0.1; Average GERP:-0.7208752475247524 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000236 22331829 NONHSAT179793.1 rs7412 ? N/A 6,989 european ancestry individuals EFO_0007804 N/A Associate Response to statins (ldl cholesterol change) rs7412-? of NONHSAT179793.1 is significantly associated with the response to statins (ldl cholesterol change) by using GWAS analysis in 6,989 european ancestry individuals(p-value = 2E-47 ;OR = 6.2). 0.4 Genetic determinants of statin-induced low-density lipoprotein cholesterol reduction: the Justification for the Use of Statins in Prevention: an Intervention Trial Evaluating Rosuvastatin (JUPITER) trial. genome-wide association analysis NONHSAT179793.1 lncRNA Ldl cholesterol change measurement 0.33 CCTGCAGAAG(C > T)GCCTGGCAGT chr19: 44908822 0.9249,0.07508 0.91786123853211009,0.08213876146788990 Region score:0.36; TSS score:0.39; Unmatched score:0.61; Average GERP:1.2422673267326734 GeneName:AC011481.3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000280087; TranscriptID:ENST00000623895; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:APOE; CADD-Score:7; Consquence:missense; GeneID:ENSG00000130203; TranscriptID:ENST00000252486; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000237 28453575 NONHSAT160034.1 rs334 T N/A 12,502 hispanic/latino individuals; 4,772 hispanic/latino individuals EFO_0004526 N/A Associate Mean corpuscular volume rs334-T of NONHSAT160034.1 is significantly associated with the mean corpuscular volume by using GWAS analysis in 12,502 hispanic/latino individuals; 4,772 hispanic/latino individuals(p-value = 1E-22 ;OR = 3.46). 0.4 Genome-wide association study of red blood cell traits in Hispanics/Latinos: The Hispanic Community Health Study/Study of Latinos. genome-wide association analysis NONHSAT160034.1 lncRNA Mean corpuscular volume 0.33 AGACTTCTCC(T > A,C,G)CAGGAGTCAG chr11: 5227002 0.9726,0.02736,.,. 0.94176063965341488,0.05823936034658511,.,. N/A GeneName:AC104389.6; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000285498; TranscriptID:ENST00000644706; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HBB; CADD-Score:7; Consquence:missense; GeneID:ENSG00000244734; TranscriptID:ENST00000647020; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF00621; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000221031; TranscriptID:ENST00000408104; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000238 27749845 NONHSAT202221.1 rs76122614 G N/A 2,506 european ancestry cases//135 cases//5,984 european ancestry controls//601 controls EFO_1001931 N/A Associate Oropharynx cancer rs76122614-G of NONHSAT202221.1 is significantly associated with the oropharynx cancer by using GWAS analysis in 2,506 european ancestry cases//135 cases//5,984 european ancestry controls//601 controls(p-value = 4E-6 ;OR = 1.206127). 0.4 Genome-wide association analyses identify new susceptibility loci for oral cavity and pharyngeal cancer. genome-wide association analysis NONHSAT202221.1 lncRNA Oropharynx cancer 0.33 GTAAACCTGC(G > A)ATTGTTCCAA chr5: 7439973 0.9038,0.09625 0.82006562181447502,0.17993437818552497 Region score:0.32; TSS score:0.3; Unmatched score:0.14; Average GERP:-1.4105831683168315 GeneName:ADCY2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000078295; TranscriptID:ENST00000338316; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000239 28247064 NONHSAT181722.1 rs4267554 G N/A 3,146 individuals EFO_0000249 N/A Associate Cerebrospinal p-tau181p levels rs4267554-G of NONHSAT181722.1 is significantly associated with the cerebrospinal p-tau181p levels by using GWAS analysis in 3,146 individuals(p-value = 2E-6 ;OR = 0.042). 0.4 Genome-wide association study identifies four novel loci associated with Alzheimer's endophenotypes and disease modifiers. genome-wide association analysis NONHSAT181722.1 lncRNA Alzheimers disease 0.33 GTCCTCAGAA(A > G)GGTTTCATTC chr2: 46673906 0.9439,0.05611 0.90451388888888888,0.09548611111111111 Region score:0.27; TSS score:0.33; Unmatched score:0.06; Average GERP:-0.15103168316831703 GeneName:AC020604.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000279254; TranscriptID:ENST00000622979; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000240 26577090 MIR145 rs353291 G N/A Primary population: 173 cases and 187 controls and secondary population: 679 cases and 301 controls EFO_0000305 N/A increasing risk breast carcinoma rs353291-G of hsa-mir-145 and its dysfunction is significantly associated with the increasing risk of Breast carcinoma by using case-control analysis in Primary population: 173 cases and 187 controls and secondary population: 679 cases and 301 controls 0.4 Genetic association analysis of miRNA SNPs implicates MIR145 in breast cancer susceptibility. case-control analysis hsa-mir-145 miRNA Breast carcinoma 0.33 CGATTTGGAA(T > C)GCAGCCAGAG chr5: 149431183 0.6392,0.3608 0.64334066004077471,0.35665933995922528 Region score:0.46; TSS score:0.43; Unmatched score:0.53; Average GERP:-0.7545225742574255 GeneName:AC131025.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000275871; TranscriptID:ENST00000622374; AnnoType:UPSTREAM; mirSVR-Score:-0.0084; mirSVR-E:-16.01 | GeneName:CARMN; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000249669; TranscriptID:ENST00000602964; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0084; mirSVR-E:-16.01 | GeneName:MIR143; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000284182; TranscriptID:ENST00000385300; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0084; mirSVR-E:-16.01 | GeneName:MIR145; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000276365; TranscriptID:ENST00000384967; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0084; mirSVR-E:-16.01 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000317875; AnnoType:REGULATORY; mirSVR-Score:-0.0084; mirSVR-E:-16.01 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000773440; AnnoType:REGULATORY; mirSVR-Score:-0.0084; mirSVR-E:-16.01 | NCRV0000000241 27863252 NONHSAT158820.1 rs415895 G N/A 172,851 european ancestry individuals EFO_0004527 N/A Associate Mean corpuscular hemoglobin concentration rs415895-G of NONHSAT158820.1 is significantly associated with the mean corpuscular hemoglobin concentration by using GWAS analysis in 172,851 european ancestry individuals(p-value = 5E-11 ;OR = 0.02381166). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT158820.1 lncRNA Mean corpuscular hemoglobin 0.33 GCAGCTGGAG(C > G)AGCTTGAGTT chr11: 9748015 0.4796,0.5204 0.40152745922528032,0.59847254077471967 Region score:0.29; TSS score:0.34; Unmatched score:0.37; Average GERP:1.5259089108910884 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000423150; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SWAP70; CADD-Score:7; Consquence:missense; GeneID:ENSG00000133789; TranscriptID:ENST00000318950; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000242 22589738 NONHSAT186701.1 rs7602441 G N/A 5,560 european ancestry female individuals//4,997 european ancestry male individuals EFO_0004765 adjusted for BMI Associate Visceral adipose tissue adjusted for bmi rs7602441-G of NONHSAT186701.1 is significantly associated with the visceral adipose tissue adjusted for bmi by using GWAS analysis in 5,560 european ancestry female individuals//4,997 european ancestry male individuals(p-value = 7E-6 ;OR = ?). 0.4 Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. genome-wide association analysis NONHSAT186701.1 lncRNA Visceral adipose tissue measurement 0.33 ATAAGGCTCT(G > A)TAACATTCTA chr2: 14661377 0.6983,0.3017 0.71616972477064220,0.28383027522935779 Region score:0.38; TSS score:0.32; Unmatched score:0.23; Average GERP:-0.7686415841584159 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000243 26242244 NONHSAT103598.2 rs1533106 ? N/A 128 han chinese ancestry cases EFO_0007700 N/A Associate Exploratory eye movement dysfunction in schizophrenia (total eye scanning length) rs1533106-? of NONHSAT103598.2 is significantly associated with the exploratory eye movement dysfunction in schizophrenia (total eye scanning length) by using GWAS analysis in 128 han chinese ancestry cases(p-value = 3E-6 ;OR = 83.03). 0.4 Association of chromosome 5q21.3 polymorphisms with the exploratory eye movement dysfunction in schizophrenia. genome-wide association analysis NONHSAT103598.2 lncRNA Exploratory eye movement measurement 0.33 AAAACCAAAA(G > A,T)TGTTGGTTTC chr5: 126752020 0.3011,.,0.6989 0.26521884556574923,0.00363149847094801,0.73114965596330275 Region score:0.29; TSS score:0.61; Unmatched score:0.64; Average GERP:1.5292249999999998 GeneName:LMNB1-DT; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000251072; TranscriptID:ENST00000509185; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000768427; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RNU6-752P; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000252185; TranscriptID:ENST00000516376; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000244 27863252 NONHSAT204881.1 rs61745454 G N/A 170,721 european ancestry individuals EFO_0005091 N/A Associate Monocyte count rs61745454-G of NONHSAT204881.1 is significantly associated with the monocyte count by using GWAS analysis in 170,721 european ancestry individuals(p-value = 3E-12 ;OR = 0.06216414). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT204881.1 lncRNA Monocyte count 0.33 TGAGGCCCGG(A > G)GGACTGTAGG chr5: 151187456 0.9679,0.03215 0.95879523445463812,0.04120476554536187 Region score:0.32; TSS score:0.27; Unmatched score:0.45; Average GERP:1.5961649999999998 GeneName:CCDC69; CADD-Score:7; Consquence:missense; GeneID:ENSG00000198624; TranscriptID:ENST00000355417; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000245 26256467 NONHSAT203634.1 rs10866682 C N/A 872 european ancestry individuals; 843 old order amish individuals EFO_0000319 N/A Associate Postprandial triglyceride response to high fat diet meal rs10866682-C of NONHSAT203634.1 is significantly associated with the postprandial triglyceride response to high fat diet meal by using GWAS analysis in 872 european ancestry individuals; 843 old order amish individuals(p-value = 6E-7 ;OR = 0.4356). 0.4 Genome-wide association study of triglyceride response to a high-fat meal among participants of the NHLBI Genetics of Lipid Lowering Drugs and Diet Network (GOLDN). genome-wide association analysis NONHSAT203634.1 lncRNA Cardiovascular disease 0.33 TGCCAAAAGC(C > G,T)GTTCTGGTGT chr5: 174609230 0.1909,.,0.8091 0.18827248980632008,0.02383569062181447,0.78789181957186544 Region score:0.45; TSS score:0.45; Unmatched score:0.39; Average GERP:2.409653465346534 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000778534; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000246 28199695 NONHSAT216841.1 rs13259625 G N/A 41,355 european ancestry men and 43,369 european ancestry women EFO_0008377 N/A Associate Itch intensity from mosquito bite adjusted by bite size rs13259625-G of NONHSAT216841.1 is significantly associated with the itch intensity from mosquito bite adjusted by bite size by using GWAS analysis in 41,355 european ancestry men and 43,369 european ancestry women(p-value = 8E-6 ;OR = 0.0668709). 0.4 GWAS of self-reported mosquito bite size, itch intensity and attractiveness to mosquitoes implicates immune-related predisposition loci. genome-wide association analysis NONHSAT216841.1 lncRNA Mosquito bite reaction itch intensity measurement 0.33 GGTGACCAGG(G > A)TGGGGTGCGG chr8: 22566295 0.9948,0.005192 0.99232288481141692,0.00767711518858307 Region score:0.3; TSS score:0.34; Unmatched score:0.89; Average GERP:-1.568545 GeneName:AC037459.4; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000254230; TranscriptID:ENST00000517384; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000849800; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000849804; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SORBS3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000120896; TranscriptID:ENST00000240123; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000247 28232668 NONHSAT222035.1 rs7871395 A N/A 2,033 han chinese ancestry cases//4,051 han chinese ancestry controls; 1,346 han chinese ancestry cases//4,542 han chinese ancestry controls EFO_0003959 N/A Associate Nonsyndromic cleft lip with cleft palate rs7871395-A of NONHSAT222035.1 is significantly associated with the nonsyndromic cleft lip with cleft palate by using GWAS analysis in 2,033 han chinese ancestry cases//4,051 han chinese ancestry controls; 1,346 han chinese ancestry cases//4,542 han chinese ancestry controls(p-value = 6E-9 ;OR = 1.21). 0.4 Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity. genome-wide association analysis NONHSAT222035.1 lncRNA Cleft lip 0.33 GAATTCATTC(C > T)GTTTACCCAC chr9: 89594672 0.7546,0.2454 0.75309792303771661,0.24690207696228338 Region score:0.41; TSS score:0.39; Unmatched score:0.21; Average GERP:-0.2223870297029703 GeneName:AL161910.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000285907; TranscriptID:ENST00000648620; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000336540; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000248 27863252 NONHSAT188919.1 rs6125961 A N/A 169,545 european ancestry individuals EFO_0007997 N/A Associate Granulocyte percentage of myeloid white cells rs6125961-A of NONHSAT188919.1 is significantly associated with the granulocyte percentage of myeloid white cells by using GWAS analysis in 169,545 european ancestry individuals(p-value = 8E-41 ;OR = 0.05991248). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT188919.1 lncRNA Granulocyte percentage of myeloid white cells 0.33 TAGGACCCCG(C > A,T)GGGGAGGCCC chr20: 50267587 0.8856,0.1144,. 0.86328523190621814,0.13669884046890927,0.00001592762487257 Region score:0.46; TSS score:0.51; Unmatched score:0.9; Average GERP:-0.49119801980198036 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000653820; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000653827; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SMIM25; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000224397; TranscriptID:ENST00000425497; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000249 27863252 NONHSAT174663.1 rs12711490 C N/A 170,721 european ancestry individuals EFO_0005091 N/A Associate Monocyte count rs12711490-C of NONHSAT174663.1 is significantly associated with the monocyte count by using GWAS analysis in 170,721 european ancestry individuals(p-value = 1E-65 ;OR = 0.07314192). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT174663.1 lncRNA Monocyte count 0.33 TTCAGTTGTT(T > C)TGATGGCCTA chr16: 85939422 0.893,0.107 0.82944699286442405,0.17055300713557594 Region score:0.24; TSS score:0.34; Unmatched score:0.13; Average GERP:-0.7914188118811881 GeneName:AC092723.5; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000285163; TranscriptID:ENST00000646986; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LINC02132; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000268804; TranscriptID:ENST00000598933; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000250 22683750 NONHSAT149602.1 rs17029069 T N/A 7,482 european ancestry individuals; 7,151 european ancestry individuals EFO_0004278 N/A Associate Cardiac repolarization rs17029069-T of NONHSAT149602.1 is significantly associated with the cardiac repolarization by using GWAS analysis in 7,482 european ancestry individuals; 7,151 european ancestry individuals(p-value = 8E-6 ;OR = 1.29). 0.4 A meta-analysis of genome-wide association studies of the electrocardiographic early repolarization pattern. genome-wide association analysis NONHSAT149602.1 lncRNA Sudden cardiac arrest 0.33 CCTGATTTCT(C > T)CCAGGCCTTT chr1: 111921754 0.7228,0.2772 0.73560939092762487,0.26439060907237512 Region score:0.26; TSS score:0.16; Unmatched score:0.07; Average GERP:-0.770978118811881 GeneName:KCND3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000171385; TranscriptID:ENST00000315987; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000368853; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000251 25903422 NONHSAT161617.1 rs55974252 C N/A 3,496 european ancestry cases//5,186 european ancestry controls//1,588 chinese ancestry cases//3,546 chinese ancestry controls; 5,134 european ancestry cases//5,633 european ancestry controls//5,151 chinese ancestry cases//5,152 chinese ancestry controls EFO_0000676 N/A Associate Psoriasis rs55974252-C of NONHSAT161617.1 is significantly associated with the psoriasis by using GWAS analysis in 3,496 european ancestry cases//5,186 european ancestry controls//1,588 chinese ancestry cases//3,546 chinese ancestry controls; 5,134 european ancestry cases//5,633 european ancestry controls//5,151 chinese ancestry cases//5,152 chinese ancestry controls(p-value = 3E-6 ;OR = 1.12). 0.4 Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility. genome-wide association analysis NONHSAT161617.1 lncRNA Psoriasis 0.33 CTATGGTTGC(C > A,G,T)CAATGGTTTG chr11: 128277554 0.7939,.,0.2061,. 0.78984295361875637,0.00002389143730886,0.20958365188583078,0.00054950305810397 Region score:0.39; TSS score:0.15; Unmatched score:0.03; Average GERP:-0.29528316831683155 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000252 28928442 NONHSAT190368.1 rs184381862 ? N/A 842 european ancestry cases//82,778 european ancestry controls EFO_0008411 N/A Associate Bacterial meningitis rs184381862-? of NONHSAT190368.1 is significantly associated with the bacterial meningitis by using GWAS analysis in 842 european ancestry cases//82,778 european ancestry controls(p-value = 3E-6 ;OR = 1.4256). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. genome-wide association analysis NONHSAT190368.1 lncRNA Susceptibility to bacterial meningitis measurement 0.33 GTCCCTTCTC(T > C)GAGCCTCAGG chr20: 45358081 0.9984,0.001597 0.99863818807339449,0.00136181192660550 Region score:0.35; TSS score:0.42; Unmatched score:0.5; Average GERP:0.27603465346534667 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000652227; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SYS1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000204070; TranscriptID:ENST00000243918; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000253 27863252 NONHSAT179793.1 rs7412 T N/A 171,529 european ancestry individuals EFO_0005192 N/A Associate Red cell distribution width rs7412-T of NONHSAT179793.1 is significantly associated with the red cell distribution width by using GWAS analysis in 171,529 european ancestry individuals(p-value = 2E-44 ;OR = 0.08988161). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT179793.1 lncRNA Red blood cell distribution width 0.33 CCTGCAGAAG(C > T)GCCTGGCAGT chr19: 44908822 0.9249,0.07508 0.91786123853211009,0.08213876146788990 Region score:0.36; TSS score:0.39; Unmatched score:0.61; Average GERP:1.2422673267326734 GeneName:AC011481.3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000280087; TranscriptID:ENST00000623895; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:APOE; CADD-Score:7; Consquence:missense; GeneID:ENSG00000130203; TranscriptID:ENST00000252486; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000254 27179730 NONHSAT179794.1 rs445925 A N/A 2,242 european ancestry individuals with clinical ideal cardiovascular health//9,466 european ancestry individuals without clinical ideal cardiovascular health; 522 european ancestry individuals EFO_0000319 N/A Associate Ideal cardiovascular health (clinical) rs445925-A of NONHSAT179794.1 is significantly associated with the ideal cardiovascular health (clinical) by using GWAS analysis in 2,242 european ancestry individuals with clinical ideal cardiovascular health//9,466 european ancestry individuals without clinical ideal cardiovascular health; 522 european ancestry individuals(p-value = 9E-10 ;OR = 1.72). 0.4 Genetic loci associated with ideal cardiovascular health: A meta-analysis of genome-wide association studies. genome-wide association analysis NONHSAT179794.1 lncRNA Cardiovascular disease 0.565 GAAGGACAAA(G > A,C)AGCCCCCTTT chr19: 44912383 0.8502,0.1498,. 0.84554982161060142,0.15443425076452599,0.00001592762487257 Region score:0.32; TSS score:0.46; Unmatched score:0.37; Average GERP:-0.3876799999999996 GeneName:AC011481.3; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000280087; TranscriptID:ENST00000623895; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:APOC1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000130208; TranscriptID:ENST00000588750; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:APOE; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000130203; TranscriptID:ENST00000252486; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000254 28334899 NONHSAT179794.1 rs445925 A N/A 32,285 east asian ancestry individuals//173,082 european ancestry individuals; 8,478 chinese ancestry individuals EFO_0000319 N/A Associate Ldl cholesterol levels rs445925-A of NONHSAT179794.1 is significantly associated with the ldl cholesterol levels by using GWAS analysis in 32,285 east asian ancestry individuals//173,082 european ancestry individuals; 8,478 chinese ancestry individuals(p-value = 1E-129 ;OR = 0.523). 0.4 Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels. genome-wide association analysis NONHSAT179794.1 lncRNA Cardiovascular disease 0.565 GAAGGACAAA(G > A,C)AGCCCCCTTT chr19: 44912383 0.8502,0.1498,. 0.84554982161060142,0.15443425076452599,0.00001592762487257 Region score:0.32; TSS score:0.46; Unmatched score:0.37; Average GERP:-0.3876799999999996 GeneName:AC011481.3; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000280087; TranscriptID:ENST00000623895; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:APOC1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000130208; TranscriptID:ENST00000588750; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:APOE; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000130203; TranscriptID:ENST00000252486; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000254 28371326 NONHSAT179794.1 rs445925 A N/A 862 han chinese ancestry cases//880 han chinese ancestry controls; 656 han chinese ancestry cases//933 han chinese ancestry controls EFO_0000319 N/A Associate Ldl cholesterol levels rs445925-A of NONHSAT179794.1 is significantly associated with the ldl cholesterol levels by using GWAS analysis in 862 han chinese ancestry cases//880 han chinese ancestry controls; 656 han chinese ancestry cases//933 han chinese ancestry controls(p-value = 1E-13 ;OR = 0.22). 0.4 Susceptibility loci for metabolic syndrome and metabolic components identified in Han Chinese: a multi-stage genome-wide association study. genome-wide association analysis NONHSAT179794.1 lncRNA Cardiovascular disease 0.565 GAAGGACAAA(G > A,C)AGCCCCCTTT chr19: 44912383 0.8502,0.1498,. 0.84554982161060142,0.15443425076452599,0.00001592762487257 Region score:0.32; TSS score:0.46; Unmatched score:0.37; Average GERP:-0.3876799999999996 GeneName:AC011481.3; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000280087; TranscriptID:ENST00000623895; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:APOC1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000130208; TranscriptID:ENST00000588750; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:APOE; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000130203; TranscriptID:ENST00000252486; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000254 23118302 NONHSAT179794.1 rs445925 T N/A 6,851 european ancestry individuals; 13,664 european ancestry individuals EFO_0000319 N/A Associate Lipoprotein-associated phospholipase a2 activity and mass rs445925-T of NONHSAT179794.1 is significantly associated with the lipoprotein-associated phospholipase a2 activity and mass by using GWAS analysis in 6,851 european ancestry individuals; 13,664 european ancestry individuals(p-value = 1E-56 ;OR = 0.071). 0.4 Genome-wide association study evaluating lipoprotein-associated phospholipase A2 mass and activity at baseline and after rosuvastatin therapy. genome-wide association analysis NONHSAT179794.1 lncRNA Cardiovascular disease 0.565 GAAGGACAAA(G > A,C)AGCCCCCTTT chr19: 44912383 0.8502,0.1498,. 0.84554982161060142,0.15443425076452599,0.00001592762487257 Region score:0.32; TSS score:0.46; Unmatched score:0.37; Average GERP:-0.3876799999999996 GeneName:AC011481.3; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000280087; TranscriptID:ENST00000623895; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:APOC1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000130208; TranscriptID:ENST00000588750; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:APOE; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000130203; TranscriptID:ENST00000252486; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000255 25676789 NONHSAT164353.1 rs116568708 ? N/A 1,607 european ancestry individuals//238 east asian individuals//84 african american individuals//85 hispanic individuals//13 individuals HP_0002149 allopurinol in gout Associate Serum uric acid levels in response to allopurinol in gout rs116568708-? of NONHSAT164353.1 is significantly associated with the serum uric acid levels in response to allopurinol in gout by using GWAS analysis in 1,607 european ancestry individuals//238 east asian individuals//84 african american individuals//85 hispanic individuals//13 individuals(p-value = 4E-7 ;OR = 2.6169). 0.4 Genome-wide association study identifies ABCG2 (BCRP) as an allopurinol transporter and a determinant of drug response. genome-wide association analysis NONHSAT164353.1 lncRNA Hyperuricemia 0.33 CCACCATGCC(G > A,C)GGGGCCAGAC chr12: 4988312 0.981,0.01897,. 0.98216106014271151,0.01782301223241590,0.00001592762487257 Region score:0.37; TSS score:0.3; Unmatched score:0.13; Average GERP:-0.8190051485148516 GeneName:AC005906.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000256654; TranscriptID:ENST00000640877; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000449106; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000256 24528284 NONHSAT087008.2 rs1058172 ? N/A 300 european ancestry escitalpram treated individuals//130 european ancestry citalopram treated individuals EFO_0003761 serotonin reuptake inhibitors Associate Response to serotonin reuptake inhibitors in major depressive disorder (plasma drug and metabolite levels) rs1058172-? of NONHSAT087008.2 is significantly associated with the response to serotonin reuptake inhibitors in major depressive disorder (plasma drug and metabolite levels) by using GWAS analysis in 300 european ancestry escitalpram treated individuals//130 european ancestry citalopram treated individuals(p-value = 2E-16 ;OR = ?). 0.4 Citalopram and escitalopram plasma drug and metabolite concentrations: genome-wide associations. genome-wide association analysis NONHSAT087008.2 lncRNA Unipolar depression 0.33 GTCCCCAAAG(C > G,T)GCTGCACCTC chr22: 42127526 N/A 0.92332441386340468,0.00000796381243628,0.07666762232415902 Region score:0.36; TSS score:0.58; Unmatched score:0.65; Average GERP:1.5209009900990107 GeneName:CYP2D6; CADD-Score:7; Consquence:missense; GeneID:ENSG00000100197; TranscriptID:ENST00000360608; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NDUFA6-DT; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000237037; TranscriptID:ENST00000439129; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000257 27156151 miR-499 rs3746444 T N/a 354 korean women: 120 patients with rif and 234 healthy controls with at least one live birth and no history of pregnancy loss MP_0001728 N/A No significance for risk Recurrent implantation failure rs3746444-T of miR-499 and its dysfunction is not significantly associated with recurrent implantation failure by using case-control analysis in 354 Korean women: 120 patients with RIF and 234 healthy controls with at least one live birth and no history of pregnancy loss. -0.4 Association of miR-146aC>G, miR-149C>T, miR-196a2T>C, and miR-499A>G polymorphisms with risk of recurrent implantation failure in Korean women. case-control analysis hsa-mir-499a miRNA Failure of embryo implantation -0.33 CCACGTGAAC(A > G)TCACAGCAAG chr20: 34990448 0.8165,0.1835 0.81708715596330275,0.18291284403669724 Region score:0.79; TSS score:0.85; Unmatched score:0.95; Average GERP:3.757564356435645 GeneName:MIR499A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207635; TranscriptID:ENST00000384903; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR499B; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283441; TranscriptID:ENST00000636498; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYH7B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000078814; TranscriptID:ENST00000262873; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000258 27798624 NONHSAT164585.1 rs10880689 G N/A 127,919 european ancestry individuals//2,478 asian ancestry individuals//1,734 black individuals//684 mixed ancestry individuals//1,436 individuals; 130,795 european ancestry individuals EFO_0003777 N/A Associate Resting heart rate rs10880689-G of NONHSAT164585.1 is significantly associated with the resting heart rate by using GWAS analysis in 127,919 european ancestry individuals//2,478 asian ancestry individuals//1,734 black individuals//684 mixed ancestry individuals//1,436 individuals; 130,795 european ancestry individuals(p-value = 8E-10 ;OR = 0.2084). 0.4 Identification of genomic loci associated with resting heart rate and shared genetic predictors with all-cause mortality. genome-wide association analysis NONHSAT164585.1 lncRNA Heart disease 0.33 TCCAACTTGC(A > G)GGGAATAAAA chr12: 37536300 0.7893,0.2107 0.70381785168195718,0.29618214831804281 Region score:0.47; TSS score:0.09; Unmatched score:0.07; Average GERP:0.03683168316831682 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000259 24852370 NONHSAT174088.1 rs4575545 ? N/A 1,346 han chinese ancestry individuals; 3,235 she chinese ancestry individuals EFO_1000627 N/A Associate Serum thyroid-stimulating hormone levels rs4575545-? of NONHSAT174088.1 is significantly associated with the serum thyroid-stimulating hormone levels by using GWAS analysis in 1,346 han chinese ancestry individuals; 3,235 she chinese ancestry individuals(p-value = 2E-6 ;OR = ?). 0.4 Genome-wide association study identifies a novel susceptibility gene for serum TSH levels in Chinese populations. genome-wide association analysis NONHSAT174088.1 lncRNA Thyroid disease 0.33 TGAAGCAACC(G > A)GGCAAAGGTG chr16: 79721549 0.7798,0.2202 0.73209734964322120,0.26790265035677879 Region score:0.53; TSS score:0.67; Unmatched score:0.68; Average GERP:2.861320792079209 GeneName:LINC01229; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000260876; TranscriptID:ENST00000561510; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MAFTRR; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000261390; TranscriptID:ENST00000562921; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000543179; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000260 27424800 mir-6832 rs116665625 ? N/A Schizophrenias EFO_0000692 N/A increasing risk schizophrenia rs116665625-? of hsa-mir-6832 and its dysfunction is significantly associated with the increasing risk of Schizophrenia by using genome-wide association analysis in Schizophrenias 0.4 Schizophrenia risk variants affecting microRNA function and site-specific regulation of NT5C2 by miR-206. genome-wide association analysis hsa-mir-6832 miRNA Schizophrenia 0.33 GTTAGGGTAG(G > C,T)AAAGTGCCCC - - - - - NCRV0000000261 26198764 NONHSAT181882.1 rs76503615 A N/A 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls EFO_0000692 N/A Associate Schizophrenia rs76503615-A of NONHSAT181882.1 is significantly associated with the schizophrenia by using GWAS analysis in 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls(p-value = 8E-6 ;OR = 1.11). 0.4 Genome-wide association study of schizophrenia in Ashkenazi Jews. genome-wide association analysis NONHSAT181882.1 lncRNA Schizophrenia 0.33 TGTTTCAGGA(G > A)TTGGATTATC chr2: 62452374 0.9503,0.04972 0.94606109836901121,0.05393890163098878 Region score:0.47; TSS score:0.42; Unmatched score:0.11; Average GERP:0.03376732673267329 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000262 21833088 NONHSAT173324.1 rs386965 G N/A 9,772 european ancestry cases//16,849 european ancestry controls; 4,218 european ancestry cases//7,296 european ancestry controls EFO_0003885 N/A Associate Multiple sclerosis rs386965-G of NONHSAT173324.1 is significantly associated with the multiple sclerosis by using GWAS analysis in 9,772 european ancestry cases//16,849 european ancestry controls; 4,218 european ancestry cases//7,296 european ancestry controls(p-value = 4E-6 ;OR = 1.09). 0.4 Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. genome-wide association analysis NONHSAT173324.1 lncRNA Multiple sclerosis 0.33 TTGATTCATG(C > T)ACCCCATCTT chr16: 79618644 0.389,0.611 0.29550522426095820,0.70449477573904179 Region score:0.46; TSS score:0.5; Unmatched score:0.23; Average GERP:-0.5286596039603961 GeneName:AC009159.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000275040; TranscriptID:ENST00000618386; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000543147; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000263 25479352 miR-125a rs534766417 G Dominant 389 chinese han rpl patients EFO_1000954 N/A Increasing risk Recurrent pregnancy loss rs534766417-G of miR-125a and its dysfunction is significantly associated with the increasing risk of recurrent pregnancy loss by using analysis of sequence variation in 389 Chinese Han RPL patients. By using the disease cell lines or tissues, the interference and mutation of miR-125a has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. Moreover, the ncRNA variation-disease association was validated by complex experiments. 1.4 Functional study of one nucleotide mutation in pri-miR-125a coding region which related to recurrent pregnancy loss. analysis of sequence variation; Function; Mechanism hsa-mir-125a miRNA Habitual abortion 0.753 CCCCCACCCC(A > G)GGGTCTACCG chr19: 51693225 0.9994,0.000599 0.99971330275229357,0.00028669724770642 N/A GeneName:MIR125A; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000208008; TranscriptID:ENST00000385273; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR99B; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207550; TranscriptID:ENST00000384819; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIRLET7E; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000198972; TranscriptID:ENST00000362102; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SPACA6; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000182310; TranscriptID:ENST00000637797; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SPACA6P-AS; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000269959; TranscriptID:ENST00000602324; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000264 23251661 NONHSAT174788.1 rs11658587 A N/A 815 hispanic children from 263 families EFO_0001073 N/A Associate Obesity-related traits rs11658587-A of NONHSAT174788.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 6E-6 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. genome-wide association analysis NONHSAT174788.1 lncRNA Obesity 0.33 ATTCCAGCTA(C > T)TCCCTTCCTG chr17: 4998687 0.9932,0.006789 0.97903128185524974,0.02096871814475025 Region score:0.35; TSS score:0.42; Unmatched score:0.76; Average GERP:1.2017722772277226 GeneName:INCA1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000196388; TranscriptID:ENST00000574617; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:KIF1C; CADD-Score:2; Consquence:intron; GeneID:ENSG00000129250; TranscriptID:ENST00000320785; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000090571; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000265 28394258 NONHSAT210387.1 rs9261387 C N/A 21,852 european ancestry individuals; 14,787 european ancestry individuals EFO_0008204 N/A Associate Isovolumetric relaxation time rs9261387-C of NONHSAT210387.1 is significantly associated with the isovolumetric relaxation time by using GWAS analysis in 21,852 european ancestry individuals; 14,787 european ancestry individuals(p-value = 7E-7 ;OR = 0.003). 0.4 Large-scale genome-wide analysis identifies genetic variants associated with cardiac structure and function. genome-wide association analysis NONHSAT210387.1 lncRNA Left ventricular diastolic function measurement 0.33 TAATTAAATT(T > C)GTGATCTGTT chr6: 30093584 0.02516,0.9748 0.05147808358817533,0.94852191641182466 Region score:0.28; TSS score:0.28; Unmatched score:0.25; Average GERP:0.003970297029702982 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000266 23555923 hsa-mir-604 rs2368392 T N/A 191 patients with TNBC and 192 healthy female controls EFO_0005537 N/A no significance for risk triple-negative breast cancer rs2368392-T of hsa-mir-604 and its dysfunction is not significantly associated with Triple-negative breast cancer by using case-control analysis in 191 patients with TNBC and 192 healthy female controls -0.4 There is no association between microRNA gene polymorphisms and risk of triple negative breast cancer in a Chinese Han population. case-control analysis hsa-mir-604 miRNA Triple-negative breast cancer -0.33 ACACGAGAGC(G > A)TGGAAGGTCA chr10: 29545074 0.6769,0.3231 0.70142870795107033,0.29857129204892966 Region score:0.32; TSS score:0.14; Unmatched score:0.33; Average GERP:-1.4355336633663358 GeneName:MIR604; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207612; TranscriptID:ENST00000384880; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SVIL; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197321; TranscriptID:ENST00000355867; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000267 28928442 NONHSAT221073.1 rs7851660 ? N/A 52,487 european ancestry cases//22,017 european ancestry controls EFO_0008408 N/A Associate Strep throat rs7851660-? of NONHSAT221073.1 is significantly associated with the strep throat by using GWAS analysis in 52,487 european ancestry cases//22,017 european ancestry controls(p-value = 4E-6 ;OR = 0.0257). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. genome-wide association analysis NONHSAT221073.1 lncRNA Susceptibility to strep throat measurement 0.33 GGGGGCCGAT(C > A)CTGCGCCCAG chr9: 97848477 0.3139,0.6861 0.35595056065239551,0.64404943934760448 Region score:0.18; TSS score:0.61; Unmatched score:0.53; Average GERP:-1.2608326732673263 GeneName:FOXE1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000178919; TranscriptID:ENST00000375123; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PTCSC2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000236130; TranscriptID:ENST00000649461; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000268 26154020 NONHSAT175735.1 rs906175 T N/A 530 european ancestry cases//926 european ancestry controls Orphanet_282 N/A Associate Frontotemporal dementia rs906175-T of NONHSAT175735.1 is significantly associated with the frontotemporal dementia by using GWAS analysis in 530 european ancestry cases//926 european ancestry controls(p-value = 1E-7 ;OR = 1.58). 0.4 A genome-wide screening and SNPs-to-genes approach to identify novel genetic risk factors associated with frontotemporal dementia. genome-wide association analysis NONHSAT175735.1 lncRNA Frontotemporal dementia 0.33 CAGCAGCAGC(C > T)CCGCACGGTC chr17: 81199662 0.5799,0.4201 0.63035168195718654,0.36964831804281345 Region score:0.14; TSS score:0.22; Unmatched score:0.39; Average GERP:-1.1480297029702968 GeneName:AC027601.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000262115; TranscriptID:ENST00000571085; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CEP131; CADD-Score:2; Consquence:intron; GeneID:ENSG00000141577; TranscriptID:ENST00000269392; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000284704; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000269 23906647 miR-96 rs6965643 ? N/A 695 adults with ADHD (266 and 396 subjects with and without comorbid SUD, respectively), 403 subjects with SUD without life-time diagnosis of ADHD and 485 sex-matched controls from Spain EFO_0003888 N/A increasing risk attention deficit hyperactivity disorder rs6965643-? of hsa-mir-96 and its dysfunction is significantly associated with the increasing risk of Attention deficit hyperactivity disorder by using case-control analysis in 695 adults with ADHD (266 and 396 subjects with and without comorbid SUD, respectively), 403 subjects with SUD without life-time diagnosis of ADHD and 485 sex-matched controls from Spain 0.4 Evaluation of single nucleotide polymorphisms in the miR-183-96-182 cluster in adulthood attention-deficit and hyperactivity disorder (ADHD) and substance use disorders (SUDs). case-control analysis hsa-mir-96 miRNA Attention deficit hyperactivity disorder 0.33 GCAACCATGT(A > G)TCCTAGGGAA chr7: 129767724 0.5707,0.4293 0.70163576707441386,0.29836423292558613 Region score:0.23; TSS score:0.4; Unmatched score:0.39; Average GERP:-0.6141039603960398 GeneName:MIR182; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207990; TranscriptID:ENST00000385255; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000270 28540026 NONHSAT202647.1 rs4391122 ? N/A up to 6,197 european ancestry asd cases//up to 7,377 european ancestry controls//up to 1,190 asd cases//up to 1,190 controls EFO_0003756 N/A Associate Autism spectrum disorder rs4391122-? of NONHSAT202647.1 is significantly associated with the autism spectrum disorder by using GWAS analysis in up to 6,197 european ancestry asd cases//up to 7,377 european ancestry controls//up to 1,190 asd cases//up to 1,190 controls(p-value = 2E-9 ;OR = 1.0638298). 0.4 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. genome-wide association analysis NONHSAT202647.1 lncRNA Autism spectrum disorder 0.33 CACTTCATCT(A > G)TACTGCCTTT chr5: 61302716 0.4509,0.5491 0.41027968909276248,0.58972031090723751 Region score:0.36; TSS score:0.54; Unmatched score:0.43; Average GERP:-0.49695841584158423 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000271 23342264 miR-142 chr17:56408643 A Dominant 56 dlbcl cases EFO_0000403 N/A Increasing risk Diffuse large b-cell lymphoma chr17:56408643-A of miR-142 and its dysfunction is significantly associated with the increasing risk of diffuse large B-cell lymphoma by using analysis of sequence variation in 56 DLBCL cases. 0.4 MicroRNA-142 is mutated in about 20% of diffuse large B-cell lymphoma. analysis of sequence variation hsa-mir-142 miRNA Diffuse large b-cell lymphoma 0.33 N/A N/A N/A N/A N/A N/A NCRV0000000272 27989323 NONHSAT196672.1 rs182342623 C N/A 3,522 finnish ancestry individuals EFO_0005140 N/A Associate Macrophage inflammatory protein 1a levels rs182342623-C of NONHSAT196672.1 is significantly associated with the macrophage inflammatory protein 1a levels by using GWAS analysis in 3,522 finnish ancestry individuals(p-value = 7E-6 ;OR = 0.4173). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. genome-wide association analysis NONHSAT196672.1 lncRNA Autoimmune disease 0.33 GAGACCCAGA(A > C,G)AGAAACAGAT chr3: 184756999 0.998,0.001997,. 0.99812054026503567,0.00171221967380224,0.00016724006116207 Region score:0.37; TSS score:0.65; Unmatched score:0.7; Average GERP:1.2060108910891092 GeneName:LINC02069; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000229433; TranscriptID:ENST00000457449; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000273 23509613 NONHSAT183211.1 rs13403289 ? N/A 183 european ancestry acl-positive cases//487 european ancestry acl-negative controls//127 european ancestry lac-positive cases//581 european ancestry lac-negative controls//136 european ancestry anti-b2gpi-positive cases//360 european ancestry anti-b2gpi-negative controls EFO_0005200 N/A Associate Presence of antiphospholipid antibodies rs13403289-? of NONHSAT183211.1 is significantly associated with the presence of antiphospholipid antibodies by using GWAS analysis in 183 european ancestry acl-positive cases//487 european ancestry acl-negative controls//127 european ancestry lac-positive cases//581 european ancestry lac-negative controls//136 european ancestry anti-b2gpi-positive cases//360 european ancestry anti-b2gpi-negative controls(p-value = 6E-6 ;OR = 2.423). 0.4 Genome-wide association study of antiphospholipid antibodies. genome-wide association analysis NONHSAT183211.1 lncRNA Antiphospholipid antibody measurement 0.33 ATTGCTTCTG(C > A)AGTTCAAGTC chr2: 179352004 0.5282,0.4718 0.53721489551478083,0.46278510448521916 Region score:0.27; TSS score:0.16; Unmatched score:0.07; Average GERP:0.02101960396039605 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000629676; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000274 23793025 NONHSAT162133.1 rs2074193 C N/A 5,118 european ancestry cases//74,239 european ancestry controls EFO_0003821 N/A Associate Migraine with aura rs2074193-C of NONHSAT162133.1 is significantly associated with the migraine with aura by using GWAS analysis in 5,118 european ancestry cases//74,239 european ancestry controls(p-value = 5E-7 ;OR = 1.15). 0.4 Genome-wide meta-analysis identifies new susceptibility loci for migraine. genome-wide association analysis NONHSAT162133.1 lncRNA Migraine disorder 0.33 CTACGCCAGG(T > G)TGGCCCCTCT chr12: 47377646 0.8189,0.1811 0.80256912589194699,0.19743087410805300 Region score:0.32; TSS score:0.51; Unmatched score:0.41; Average GERP:-0.5798166336633661 GeneName:LINC02156; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000257906; TranscriptID:ENST00000648410; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000456822; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000275 22778062 SNORA43 rs72761016 T N/a N/a function N/A Not significant changes in the structure Function rs72761016-T of SNORA43 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORA43 snoRNA Function -0.049 TCTTTGCCCC(G > A,T)AGGCCACAGG chr9: 136726185 0.9367,0.0633,. 0.90738086136595310,0.09261117482161060,0.00000796381243628 Region score:0.34; TSS score:0.25; Unmatched score:0.76; Average GERP:1.1159861386138605 GeneName:AL355987.5; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000274356; TranscriptID:ENST00000621585; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:DIPK1B; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000165716; TranscriptID:ENST00000371692; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF00560; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000281808; TranscriptID:ENST00000630429; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNHG7; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000233016; TranscriptID:ENST00000414282; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORA17A; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000274998; TranscriptID:ENST00000391185; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORA17B; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000276161; TranscriptID:ENST00000362567; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORA17B; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000280496; TranscriptID:ENST00000626886; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000276 29071344 NONHSAT156769.1 rs2886497 G N/A 3,041 african american individuals//1,618 european ancestry individuals; 1,612 african american individuals//1,551 european ancestry individuals EFO_0003761 N/A Associate Major depression and alcohol dependence rs2886497-G of NONHSAT156769.1 is significantly associated with the major depression and alcohol dependence by using GWAS analysis in 3,041 african american individuals//1,618 european ancestry individuals; 1,612 african american individuals//1,551 european ancestry individuals(p-value = 6E-6 ;OR = 0.44). 0.4 Genetic Risk Variants Associated With Comorbid Alcohol Dependence and Major Depression. genome-wide association analysis NONHSAT156769.1 lncRNA Unipolar depression 0.33 CTCGCCACAT(G > C,T)TATCAGGCAG chr10: 23381413 0.641,.,0.359 0.66159371814475025,0.00010352956167176,0.33830275229357798 Region score:0.37; TSS score:0.26; Unmatched score:0.2; Average GERP:-0.4675980198019802 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000398468; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000277 26830138 NONHSAT162001.1 rs117154046 A N/A 2,478 european ancestry cases//979 ancestry controls both from the same 1,070 families EFO_0000249 N/A Associate Alzheimer disease and age of onset rs117154046-A of NONHSAT162001.1 is significantly associated with the alzheimer disease and age of onset by using GWAS analysis in 2,478 european ancestry cases//979 ancestry controls both from the same 1,070 families(p-value = 6E-7 ;OR = 5.001). 0.4 Family-based association analyses of imputed genotypes reveal genome-wide significant association of Alzheimer's disease with OSBPL6, PTPRG, and PDCL3. genome-wide association analysis NONHSAT162001.1 lncRNA Alzheimers disease 0.33 GGCCTTCAGG(G > A)GCCTGGAAGG chr12: 29389844 0.998,0.001997 0.99507040010193679,0.00492959989806320 Region score:0.42; TSS score:0.38; Unmatched score:0.8; Average GERP:-0.36950188118811883 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000050397; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:OVCH1-AS1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000257599; TranscriptID:ENST00000641955; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000278 27927641 NONHSAT178893.1 rs8097070 ? N/A 178 european ancestry cases//434 european ancestry controls//81 hispanic/latin american cases//177 hispanic/latin american controls//511 cases//6,336 controls EFO_1001999 N/A Associate Systemic juvenile idiopathic arthritis rs8097070-? of NONHSAT178893.1 is significantly associated with the systemic juvenile idiopathic arthritis by using GWAS analysis in 178 european ancestry cases//434 european ancestry controls//81 hispanic/latin american cases//177 hispanic/latin american controls//511 cases//6,336 controls(p-value = 2E-6 ;OR = 3.333333). 0.4 Genetic architecture distinguishes systemic juvenile idiopathic arthritis from other forms of juvenile idiopathic arthritis: clinical and therapeutic implications. genome-wide association analysis NONHSAT178893.1 lncRNA Systemic juvenile idiopathic arthritis 0.33 TATTTCAAAC(A > G)TCAACTCCAG chr18: 25506343 0.07847,0.9215 0.04183390672782874,0.95816609327217125 Region score:0.45; TSS score:0.4; Unmatched score:0.14; Average GERP:0.5655475247524754 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000279 26198764 NONHSAT041542.2 rs8025470 A N/A 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls EFO_0000692 N/A Associate Schizophrenia rs8025470-A of NONHSAT041542.2 is significantly associated with the schizophrenia by using GWAS analysis in 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls(p-value = 8E-6 ;OR = 1.1). 0.4 Genome-wide association study of schizophrenia in Ashkenazi Jews. genome-wide association analysis NONHSAT041542.2 lncRNA Schizophrenia 0.33 AAAGTTGATA(G > A)GGGAAAGTAG chr15: 33236067 0.895,0.105 0.88775802752293577,0.11224197247706422 Region score:0.33; TSS score:0.54; Unmatched score:0.62; Average GERP:-0.6426663366336633 GeneName:TMCO5B; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000215296; TranscriptID:ENST00000529696; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000280 28240269 NONHSAT196716.1 rs5030062 C N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0008260 N/A Associate Blood protein levels rs5030062-C of NONHSAT196716.1 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 2E-35 ;OR = 0.5188). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. genome-wide association analysis NONHSAT196716.1 lncRNA Plasma kallikrein measurement 0.33 TTATAGTTTT(A > C)ATCTTGCCTT chr3: 186736391 0.6587,0.3413 0.64970374617737003,0.35029625382262996 Region score:0.17; TSS score:0.1; Unmatched score:0.06; Average GERP:0.247108 GeneName:AC068631.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000197099; TranscriptID:ENST00000627551; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:KNG1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000113889; TranscriptID:ENST00000644859; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000281 27863252 NONHSAT197521.1 rs6782812 A N/A 170,223 european ancestry individuals EFO_0007995 N/A Associate Basophil percentage of granulocytes rs6782812-A of NONHSAT197521.1 is significantly associated with the basophil percentage of granulocytes by using GWAS analysis in 170,223 european ancestry individuals(p-value = 3E-139 ;OR = 0.1424753). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT197521.1 lncRNA Basophil percentage of granulocytes 0.33 GGCACTGCCC(G > A)GAAGCTTCCC chr3: 128599154 0.1737,0.8263 0.12586805555555555,0.87413194444444444 Region score:0.31; TSS score:0.21; Unmatched score:0.13; Average GERP:-0.4789628712871288 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000282 26049409 NONHSAT177338.1 rs1992269 A N/A 489 japanese ancestry apoe-娄脜4 noncarrier cases//6,463 japanese ancestry apoe-娄脜4 noncarrier controls//323 japanese ancestry apoe-娄脜4 carrier cases//1,484 japanese ancestry apoe-娄脜4 carrier controls//4 japanese ancestry cases//45 japanese ancestry controls; 528 japanese ancestry apoe-娄脜4 noncarrier cases//5,824 japanese ancestry apoe-娄脜4 noncarrier controls//480 japanese ancestry apoe-娄脜4 carrier cases//1,364 japanese ancestry apoe-娄脜4 carrier controls//3 japanese ancestry cases//24 japanese ancestry controls EFO_0000249 N/A Associate Alzheimer's disease (late onset) rs1992269-A of NONHSAT177338.1 is significantly associated with the alzheimer's disease (late onset) by using GWAS analysis in 489 japanese ancestry apoe-娄脜4 noncarrier cases//6,463 japanese ancestry apoe-娄脜4 noncarrier controls//323 japanese ancestry apoe-娄脜4 carrier cases//1,484 japanese ancestry apoe-娄脜4 carrier controls//4 japanese ancestry cases//45 japanese ancestry controls; 528 japanese ancestry apoe-娄脜4 noncarrier cases//5,824 japanese ancestry apoe-娄脜4 noncarrier controls//480 japanese ancestry apoe-娄脜4 carrier cases//1,364 japanese ancestry apoe-娄脜4 carrier controls//3 japanese ancestry cases//24 japanese ancestry controls(p-value = 1E-6 ;OR = 1.66). 0.4 A genome-wide association study of late-onset Alzheimer's disease in a Japanese population. genome-wide association analysis NONHSAT177338.1 lncRNA Alzheimers disease 0.33 TTTTCTTTTC(C > T)CCTCTGTCAA chr18: 1872316 0.7931,0.2069 0.76396056320081549,0.23603943679918450 Region score:0.38; TSS score:0.25; Unmatched score:0.09; Average GERP:-1.2293168316831682 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000283 27143689 NONHSAT068889.2 rs17815605 ? N/A 50 european ancestry cases with neuropathy//573 european ancestry cases without neuropathy EFO_0003100 Docetaxel-induced Associate Docetaxel-induced peripheral neuropathy in metastatic castrate-resistant prostate cancer rs17815605-? of NONHSAT068889.2 is significantly associated with the docetaxel-induced peripheral neuropathy in metastatic castrate-resistant prostate cancer by using GWAS analysis in 50 european ancestry cases with neuropathy//573 european ancestry cases without neuropathy(p-value = 6E-6 ;OR = 2.886). 0.4 Pharmacogenetic Discovery in CALGB (Alliance) 90401 and Mechanistic Validation of a VAC14 Polymorphism that Increases Risk of Docetaxel-Induced Neuropathy. genome-wide association analysis NONHSAT068889.2 lncRNA Peripheral neuropathy 0.33 ATTCACAGAA(C > A)AAGACACCTA chr2: 6637697 0.9327,0.06729 0.89134174311926605,0.10865825688073394 Region score:0.41; TSS score:0.42; Unmatched score:0.47; Average GERP:-2.501111782178218 GeneName:MIR7515HG; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000236172; TranscriptID:ENST00000591018; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000284 27197292 piR-18913 rs62435800 ? N/A 1,840 glioma cases and 2,401 controls EFO_0005543 N/A decreasing risk glioma rs62435800-? of piR-18913 and its dysfunction is significantly associated with the decreasing risk of Glioma by using genome-wide association analysis in 1,840 glioma cases and 2,401 controls 0.4 PIWI-Interacting RNAs in Gliomagenesis: Evidence from Post-GWAS and Functional Analyses. genome-wide association analysis piR-18913 piRNA Glioma 0.33 GGATTGAAGG(A > G)CGCAAAGTAT chr6: 169098644 0.9034,0.09665 0.89066481906218144,0.10933518093781855 Region score:0.15; TSS score:0.18; Unmatched score:0.14; Average GERP:-0.05810891089108932 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000285 27342110 miR-196a2 rs11614913 T Dominant 230 cancer patients (including 17 types of cancer), 26 patients with pre-cancer lesions, and 100 unrelated controls. EFO_0002916 N/A Increasing risk Esophageal cancer rs11614913-T of miR-196a2 and its dysfunction is significantly associated with the increasing risk of esophageal cancer by using case-control analysis in 230 cancer patients (including 17 types of cancer), 26 patients with pre-cancer lesions, and 100 unrelated controls. . 0.4 MicroRNA-196a2 Biomarker and Targetome Network Analysis in Solid Tumors. case-control analysis hsa-mir-196a-2 miRNA Esophageal cancer 0.451 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000285 19138993 mir196a-2 rs11614913 T Dominant 346 caucasian esophageal cancer patients (85.5% with esophageal adenocarcinoma) and 346 frequency-matched (age, gender, and ethnicity) controls EFO_0002916 N/A Increasing risk Esophageal cancer rs11614913-T of mir196a-2 and its dysfunction is significantly associated with the increasing risk of esophageal cancer by using case-control analysis in 346 Caucasian esophageal cancer patients (85.5% with esophageal adenocarcinoma) and 346 frequency-matched (age, gender, and ethnicity) controls. 0.4 Genetic variations in microRNA-related genes are novel susceptibility loci for esophageal cancer risk. case-control analysis hsa-mir-196a-2 miRNA Esophageal cancer 0.451 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000286 25778476 NONHSAT187478.1 rs4663105 C N/A 7,184 cases//26,968 controls; 718 european ancestry cases//1,699 european ancestry controls EFO_0000249 N/A Associate Alzheimer's disease in apoe e4- carriers rs4663105-C of NONHSAT187478.1 is significantly associated with the alzheimer's disease in apoe e4- carriers by using GWAS analysis in 7,184 cases//26,968 controls; 718 european ancestry cases//1,699 european ancestry controls(p-value = 2E-12 ;OR = 1.19). 0.4 A novel Alzheimer disease locus located near the gene encoding tau protein. genome-wide association analysis NONHSAT187478.1 lncRNA Alzheimers disease 0.33 CATGCCACCA(A > C)ACCCAGCTAA chr2: 127133851 0.517,0.483 0.53291443679918450,0.46708556320081549 Region score:0.23; TSS score:0.27; Unmatched score:0.11; Average GERP:-0.34793333333333337 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000287 20588305 SNORD116 SNORD116 Deletion - Dominant An 11-year-old child expressing the major components of the pws phenotype Orphanet_739 N/A Increasing risk Prader-willi syndrome Deletion of SNORD116 and its dysfunction is significantly associated with the increasing risk of Prader-Willi syndrome by using analysis of sequence variation in an 11-year-old child expressing the major components of the PWS phenotype. 0.4 Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome. analysis of sequence variation; Function SNORD116 snoRNA Prader-willi syndrome 0.33 N/A N/A N/A N/A N/A N/A NCRV0000000288 28334899 NONHSAT151260.1 rs1198430 T N/A 32,576 east asian ancestry individuals//187,365 european ancestry individuals; 10,855 chinese ancestry individuals EFO_0000319 N/A Associate Total cholesterol levels rs1198430-T of NONHSAT151260.1 is significantly associated with the total cholesterol levels by using GWAS analysis in 32,576 east asian ancestry individuals//187,365 european ancestry individuals; 10,855 chinese ancestry individuals(p-value = 1E-7 ;OR = 0.0269). 0.4 Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels. genome-wide association analysis NONHSAT151260.1 lncRNA Cardiovascular disease 0.33 CCATCAACCC(T > A,C)GACTATTCCT chr1: 23429020 0.1294,.,0.8706 0.10970151630988786,0.01744871304791029,0.87284977064220183 Region score:0.51; TSS score:0.5; Unmatched score:0.7; Average GERP:-0.012698019801980228 GeneName:ASAP3; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000088280; TranscriptID:ENST00000336689; AnnoType:3PRIME_UTR; mirSVR-Score:-0.0159; mirSVR-E:-13.65 | GeneName:TCEA3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000204219; TranscriptID:ENST00000450454; AnnoType:UPSTREAM; mirSVR-Score:-0.0159; mirSVR-E:-13.65 | NCRV0000000289 25631615 NONHSAT195991.1 rs2623325 A N/A 15,087 european ancestry individuals//2,131 erasmus rucphen family individuals; 2,363 chinese ancestry individuals//2,225 malay ancestry individuals//2,025 indian ancestry individuals EFO_0004190 N/A Associate Optic cup area rs2623325-A of NONHSAT195991.1 is significantly associated with the optic cup area by using GWAS analysis in 15,087 european ancestry individuals//2,131 erasmus rucphen family individuals; 2,363 chinese ancestry individuals//2,225 malay ancestry individuals//2,025 indian ancestry individuals(p-value = 2E-8 ;OR = 0.039). 0.4 Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology. genome-wide association analysis NONHSAT195991.1 lncRNA Open-angle glaucoma 0.33 GTTTGTGAAG(C > A)AAAGTCATCT chr3: 99412911 0.8069,0.1931 0.79555300713557594,0.20444699286442405 Region score:0.25; TSS score:0.36; Unmatched score:0.17; Average GERP:0.22578316831683182 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000155447; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000290 28928442 NONHSAT172724.1 rs184417093 ? N/A 1,115 european ancestry cases//88,076 european ancestry controls EFO_0008416 N/A Associate Rheumatic fever rs184417093-? of NONHSAT172724.1 is significantly associated with the rheumatic fever by using GWAS analysis in 1,115 european ancestry cases//88,076 european ancestry controls(p-value = 9E-6 ;OR = 3.5772). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. genome-wide association analysis NONHSAT172724.1 lncRNA Susceptibility to rheumatic fever measurement 0.33 CCCATCCTAG(C > A)ATGCACTACT chr16: 17713314 0.9998,0.0001997 0.99972126656472986,0.00027873343527013 Region score:0.49; TSS score:0.26; Unmatched score:0.04; Average GERP:-0.16543267326732652 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000291 25261463 miR_148b rs12231393 C N/A 571 Chinese GC patients and 571 cancer-free controls EFO_0000178 N/A decreasing risk gastric carcinoma rs12231393-C of hsa-mir-148b and its dysfunction is significantly associated with the decreasing risk of Gastric carcinoma by using case-control analysis in 571 Chinese GC patients and 571 cancer-free controls 0.4 Polymorphisms and haplotypes of the miR-148/152 family are associated with the risk and clinicopathological features of gastric cancer in a Northern Chinese population. case-control analysis hsa-mir-148b miRNA Gastric carcinoma 0.33 AATTGACATT(T > C)AATAAATATT chr12: 54318989 0.8349,0.1651 0.86839799949031600,0.13160200050968399 Region score:0.19; TSS score:0.11; Unmatched score:0.17; Average GERP:0.2180237623762375 GeneName:AC078778.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000258344; TranscriptID:ENST00000553061; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:COPZ1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000111481; TranscriptID:ENST00000552848; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RNU6-950P; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207381; TranscriptID:ENST00000384651; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000292 23535732 NONHSAT144742.2 rs684232 G N/A 11,085 european ancestry cases//11,463 european ancestry controls; 19,662 european ancestry cases//19,715 european ancestry controls EFO_0001663 N/A Associate Prostate cancer rs684232-G of NONHSAT144742.2 is significantly associated with the prostate cancer by using GWAS analysis in 11,085 european ancestry cases//11,463 european ancestry controls; 19,662 european ancestry cases//19,715 european ancestry controls(p-value = 5E-15 ;OR = 1.1). 0.4 Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. genome-wide association analysis NONHSAT144742.2 lncRNA Prostate cancer 0.33 AGGTTGAATA(T > C)CCGGGATCTA chr17: 715725 0.4832,0.5168 0.53355950560652395,0.46644049439347604 Region score:0.45; TSS score:0.48; Unmatched score:0.86; Average GERP:-0.5684029702970297 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000089934; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:VPS53; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000141252; TranscriptID:ENST00000437048; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000293 25650003 miR-196a2 rs11614913 C Dominant Chinese uygur (n = 662), kazak (n = 612), and southern han (n = 654) populations EFO_1000049 N/A Decreasing risk Pulmonary tuberculosis in the chinese kazak population rs11614913-C of miR-196a2 and its dysfunction is significantly associated with the decreasing risk of pulmonary tuberculosis in the Chinese Kazak population by using case-control analysis in Chinese Uygur (n = 662), Kazak (n = 612), and Southern Han (n = 654) populations . 0.4 Association of the miR-146a, miR-149, miR-196a2 and miR-499 polymorphisms with susceptibility to pulmonary tuberculosis in the Chinese Uygur, Kazak and Southern Han populations. case-control analysis hsa-mir-196a-2 miRNA Pulmonary tuberculosis 0.33 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000294 23138379 pre-miRNA-499 rs3746444 C Dominant 104 patients with ra and 110 healthy individuals EFO_0000685 N/A Increasing risk Rheumatoid arthritis rs3746444-C of pre-miRNA-499 and its dysfunction is significantly associated with the increasing risk of rheumatoid arthritis by using case-control analysis in 104 patients with RA and 110 healthy individuals. 0.4 Association of pre-miRNA-146a rs2910164 and premiRNA-499 rs3746444 polymorphisms and susceptibility to rheumatoid arthritis. case-control analysis hsa-mir-499a miRNA Rheumatoid arthritis 0.283 CCACGTGAAC(A > G)TCACAGCAAG chr20: 34990448 0.8165,0.1835 0.81708715596330275,0.18291284403669724 Region score:0.79; TSS score:0.85; Unmatched score:0.95; Average GERP:3.757564356435645 GeneName:MIR499A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207635; TranscriptID:ENST00000384903; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR499B; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283441; TranscriptID:ENST00000636498; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYH7B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000078814; TranscriptID:ENST00000262873; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000294 21181275 mir-499 rs3746444 C N/a 208 han chinese patients with ra and 240 healthy controls EFO_0000685 N/A No significance for risk Rheumatoid arthritis rs3746444-C of mir-499 and its dysfunction is not significantly associated with rheumatoid arthritis by using case-control analysis in 208 Han Chinese patients with RA and 240 healthy controls. -0.4 Association study of single nucleotide polymorphisms in pre-miRNA and rheumatoid arthritis in a Han Chinese population. case-control analysis hsa-mir-499a miRNA Rheumatoid arthritis 0.283 CCACGTGAAC(A > G)TCACAGCAAG chr20: 34990448 0.8165,0.1835 0.81708715596330275,0.18291284403669724 Region score:0.79; TSS score:0.85; Unmatched score:0.95; Average GERP:3.757564356435645 GeneName:MIR499A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207635; TranscriptID:ENST00000384903; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR499B; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283441; TranscriptID:ENST00000636498; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYH7B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000078814; TranscriptID:ENST00000262873; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000294 27002721 miR-499a rs3746444 G Dominant 95 ra patients diagnosed according to the american college of rheumatology and 200 healthy controls EFO_0000685 N/A Decreasing risk Rheumatoid arthritis rs3746444-G of miR-499a and its dysfunction is significantly associated with the decreasing risk of Rheumatoid arthritis by using case-control analysis in 95 RA patients diagnosed according to the American College of Rheumatology and 200 healthy controls. 0.4 Precursor miR-499a Variant but not miR-196a2 is Associated with Rheumatoid Arthritis Susceptibility in an Egyptian Population. case-control analysis hsa-mir-499a miRNA Rheumatoid arthritis 0.283 CCACGTGAAC(A > G)TCACAGCAAG chr20: 34990448 0.8165,0.1835 0.81708715596330275,0.18291284403669724 Region score:0.79; TSS score:0.85; Unmatched score:0.95; Average GERP:3.757564356435645 GeneName:MIR499A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207635; TranscriptID:ENST00000384903; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR499B; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283441; TranscriptID:ENST00000636498; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYH7B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000078814; TranscriptID:ENST00000262873; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000294 22019503 hsa-mir-499 rs3746444 C N/A 262 patients EFO_0000685 N/A poor prognosis rheumatoid arthritis rs3746444-C of hsa-mir-499a and its dysfunction is significantly associated with the increasing risk of Rheumatoid arthritis by using analysis of sequence variation in 262 patients 0.4 Association of polymorphisms in pre-miRNA with inflammatory biomarkers in rheumatoid arthritis in the Chinese Han population. analysis of sequence variation hsa-mir-499a miRNA Rheumatoid arthritis 0.283 CCACGTGAAC(A > G)TCACAGCAAG chr20: 34990448 0.8165,0.1835 0.81708715596330275,0.18291284403669724 Region score:0.79; TSS score:0.85; Unmatched score:0.95; Average GERP:3.757564356435645 GeneName:MIR499A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207635; TranscriptID:ENST00000384903; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR499B; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283441; TranscriptID:ENST00000636498; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYH7B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000078814; TranscriptID:ENST00000262873; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000295 24475105 miR-101 rs1053872 G Recessive 1064 breast cancer cases and 1073 cancer-free controls EFO_0000305 N/A Increasing risk Breast cancer rs1053872-G of miR-101 and its dysfunction is significantly associated with the increasing risk of breast cancer by using case-control analysis in 1064 breast cancer cases and 1073 cancer-free controls. 0.4 Genetic variations in the flanking regions of miR-101-2 are associated with increased risk of breast cancer. case-control analysis hsa-mir-101-1 miRNA Breast cancer 0.33 TGGCTGTTTT(G > C,T)CAAACCTGTG chr9: 4860643 0.6384,0.3616,. 0.68133600917431192,0.31857638888888888,0.00008760193679918 Region score:0.31; TSS score:0.43; Unmatched score:0.55; Average GERP:-0.3487998019801981 GeneName:RCL1; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000120158; TranscriptID:ENST00000381750; AnnoType:3PRIME_UTR; mirSVR-Score:-0.3190; mirSVR-E:-7.33 | NCRV0000000296 28869590 NONHSAT130430.2 rs944801 C N/A 6,353 south asian ancestry cases//7,179 south asian ancestry controls//3,871 european ancestry cases//16,427 european ancestry controls//34,840 cases//114,981 controls; 7,888 south asian ancestry cases//20,679 south asian ancestry controls//387 european ancestry cases//2,092 european ancestry controls//19,998 east asian ancestry cases//30,983 east asian ancestry controls EFO_0001360 N/A Associate Type 2 diabetes rs944801-C of NONHSAT130430.2 is significantly associated with the type 2 diabetes by using GWAS analysis in 6,353 south asian ancestry cases//7,179 south asian ancestry controls//3,871 european ancestry cases//16,427 european ancestry controls//34,840 cases//114,981 controls; 7,888 south asian ancestry cases//20,679 south asian ancestry controls//387 european ancestry cases//2,092 european ancestry controls//19,998 east asian ancestry cases//30,983 east asian ancestry controls(p-value = 1E-11 ;OR = 0.0707). 0.4 Identification of new susceptibility loci for type 2 diabetes and shared etiological pathways with coronary heart disease. genome-wide association analysis NONHSAT130430.2 lncRNA Type ii diabetes mellitus 0.33 TATGAAAGCT(G > A,C)TATGTAGTAA chr9: 22051671 0.1861,.,0.8139 0.25122642711518858,0.01666029561671763,0.73211327726809378 Region score:0.25; TSS score:0.24; Unmatched score:0.18; Average GERP:-0.8065049504950494 GeneName:CDKN2B-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000240498; TranscriptID:ENST00000428597; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF02045; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000274055; TranscriptID:ENST00000617587; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000297 22504420 NONHSAT161237.1 rs600231 A N/A up to 32,961 european and east asian ancestry individuals; up to 50,933 european and east asian ancestry individuals EFO_0003923 N/A Associate Bone mineral density rs600231-A of NONHSAT161237.1 is significantly associated with the bone mineral density by using GWAS analysis in up to 32,961 european and east asian ancestry individuals; up to 50,933 european and east asian ancestry individuals(p-value = 4E-6 ;OR = 0.02). 0.4 Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. genome-wide association analysis NONHSAT161237.1 lncRNA Bone density 0.33 GTGAAGTGAC(A > G,T)GGCCTGTCTG chr11: 65493175 0.4984,0.5016,. 0.54876242354740061,0.45114997451580020,0.00008760193679918 Region score:0.42; TSS score:0.56; Unmatched score:0.68; Average GERP:-0.6708277227722773 GeneName:AP000769.2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000270117; TranscriptID:ENST00000602344; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AP000769.3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000279243; TranscriptID:ENST00000650251; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MALAT1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000251562; TranscriptID:ENST00000534336; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000432701; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000298 21793975 miR-33b chr17:17717170 A Dominant 48 medulloblastomas EFO_0002939 N/A increasing risk medulloblastoma chr17:17717170-A of hsa-mir-33b and its dysfunction is significantly associated with the increasing risk of Medulloblastoma by using analysis of sequence variation in 48 medulloblastomas 0.4 Genetic alterations in microRNAs in medulloblastomas. analysis of sequence variation hsa-mir-33b miRNA Medulloblastoma 0.33 GGGCCGGCTC(C > A)GGGCTGCACT chr17:17717170 - - - GeneName:RAI1; CADD_Score:1; Consquence:downstream; GeneID:ENSG00000108557; TranscriptID:ENST00000353383; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR33B; CADD_Score:5; Consquence:noncoding_change; GeneID:ENSG00000207839; TranscriptID:ENST00000385104; AnnoType:NonCodingTranscript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SREBF1; CADD_Score:2; Consquence:intronic; GeneID:ENSG00000072310; TranscriptID:ENST00000355815; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000299 29382303 miR-204 rs112062096 G N/A 95 AML patients and 148 healthy individuals EFO_0000222 N/A no significance for risk acute myeloid leukemia rs112062096-G of hsa-mir-204 and its dysfunction is not significantly associated with Acute myeloid leukemia by using case-control analysis in 95 AML patients and 148 healthy individuals -0.4 Genetic variation of the gene coding for microRNA-204 (miR-204) is a risk factor in acute myeloid leukaemia. case-control analysis hsa-mir-204 miRNA Acute myeloid leukemia -0.33 CAGGCATAGG(A > G)TGACAAAGGG chr9: 70810040 0 RS=112062096;RSPOS=70810040;dbSNPBuildID=132;SSR=0;SAO=0;VP=0x050100080005000102000100;GENEINFO=TRPM3:80036|MIR204:406987;WGT=1;VC=SNV;SLO;INT;ASP;GNO Region score:0.47; TSS score:0.62; Unmatched score:0.72; Average GERP:5.230148514851487 GeneName:MIR204; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207935; TranscriptID:ENST00000385200; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TRPM3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000083067; TranscriptID:ENST00000377110; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000300 28334899 NONHSAT192799.1 rs5763662 T N/A 32,285 east asian ancestry individuals//173,082 european ancestry individuals; 8,478 chinese ancestry individuals EFO_0000319 N/A Associate Ldl cholesterol levels rs5763662-T of NONHSAT192799.1 is significantly associated with the ldl cholesterol levels by using GWAS analysis in 32,285 east asian ancestry individuals//173,082 european ancestry individuals; 8,478 chinese ancestry individuals(p-value = 3E-9 ;OR = 0.0767). 0.4 Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels. genome-wide association analysis NONHSAT192799.1 lncRNA Cardiovascular disease 0.451 GTTTTGATAC(C > T)GTAAACATCA chr22: 29982714 0.9016,0.09844 0.96465660040774719,0.03534339959225280 Region score:0.44; TSS score:0.2; Unmatched score:0.14; Average GERP:1.1144009900990102 GeneName:AC003681.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000279159; TranscriptID:ENST00000624945; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MTMR3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000100330; TranscriptID:ENST00000401950; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000300 24097068 NONHSAT192799.1 rs5763662 T N/A 94,595 european ancestry individuals; 93,982 european ancestry individuals EFO_0000319 N/A Associate Ldl cholesterol rs5763662-T of NONHSAT192799.1 is significantly associated with the ldl cholesterol by using GWAS analysis in 94,595 european ancestry individuals; 93,982 european ancestry individuals(p-value = 1E-8 ;OR = 0.077). 0.4 Discovery and refinement of loci associated with lipid levels. genome-wide association analysis NONHSAT192799.1 lncRNA Cardiovascular disease 0.451 GTTTTGATAC(C > T)GTAAACATCA chr22: 29982714 0.9016,0.09844 0.96465660040774719,0.03534339959225280 Region score:0.44; TSS score:0.2; Unmatched score:0.14; Average GERP:1.1144009900990102 GeneName:AC003681.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000279159; TranscriptID:ENST00000624945; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MTMR3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000100330; TranscriptID:ENST00000401950; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000301 25256095 miR-4513 rs2168518 A Dominant Fasting glucose, low-density lipoprotein-cholesterol, total cholesterol, systolic and diastolic blood pressure, and risk of coronary artery disease EFO_0000378 N/A Increasing risk Fasting glucose, low-density lipoprotein-cholesterol, total cholesterol, systolic and diastolic blood pressure, and risk of coronary artery disease rs2168518-A of miR-4513 and its dysfunction is significantly associated with the increasing risk of fasting glucose, low-density lipoprotein-cholesterol, total cholesterol, systolic and diastolic blood pressure, and risk of coronary artery disease by using case-control analysis in fasting glucose, low-density lipoprotein-cholesterol, total cholesterol, systolic and diastolic blood pressure, and risk of coronary artery disease. By using the disease cell lines or tissues, the mutation of miR-4513 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 A genetic variant in the seed region of miR-4513 shows pleiotropic effects on lipid and glucose homeostasis, blood pressure, and coronary artery disease. case-control analysis; Function hsa-mir-4513 miRNA Coronary artery disease 0.593 GCCTCCAGCC(G > A)TCAGTCTCCC chr15: 74788737 0.7554,0.2446 0.57552083333333333,0.42447916666666666 Region score:0.44; TSS score:0.5; Unmatched score:0.72; Average GERP:-0.038679207920792144 GeneName:CSK; CADD-Score:2; Consquence:intron; GeneID:ENSG00000103653; TranscriptID:ENST00000220003; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR4513; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000264386; TranscriptID:ENST00000581077; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000079299; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000521422; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000302 25939597 NONHSAT194170.1 rs17023900 G N/A 4,600 european ancestry cases//2,941 european ancestry controls; 7,779 european ancestry cases//7,623 european ancestry controls EFO_0001663 N/A Associate Prostate cancer rs17023900-G of NONHSAT194170.1 is significantly associated with the prostate cancer by using GWAS analysis in 4,600 european ancestry cases//2,941 european ancestry controls; 7,779 european ancestry cases//7,623 european ancestry controls(p-value = 1E-11 ;OR = 1.26). 0.4 Two susceptibility loci identified for prostate cancer aggressiveness. genome-wide association analysis NONHSAT194170.1 lncRNA Prostate cancer 0.451 GACATGCCAA(A > G)ATCTTTCAGA chr3: 87085650 0.9243,0.07568 0.92370667686034658,0.07629332313965341 Region score:0.35; TSS score:0.25; Unmatched score:0.19; Average GERP:0.6168910891089109 GeneName:LINC00506; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000281392; TranscriptID:ENST00000629295; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000302 22923026 NONHSAT194170.1 rs17023900 G N/A 1,033 japanese ancestry cases//1,042 japanese ancestry controls//1,043 latino cases//1,057 latino controls; 1,583 japanese ancestry cases//3,386 japanese ancestry controls//1,854 european ancestry cases//3,748 european ancestry controls EFO_0001663 N/A Associate Prostate cancer rs17023900-G of NONHSAT194170.1 is significantly associated with the prostate cancer by using GWAS analysis in 1,033 japanese ancestry cases//1,042 japanese ancestry controls//1,043 latino cases//1,057 latino controls; 1,583 japanese ancestry cases//3,386 japanese ancestry controls//1,854 european ancestry cases//3,748 european ancestry controls(p-value = 6E-8 ;OR = 1.41). 0.4 Evaluating genetic risk for prostate cancer among Japanese and Latinos. genome-wide association analysis NONHSAT194170.1 lncRNA Prostate cancer 0.451 GACATGCCAA(A > G)ATCTTTCAGA chr3: 87085650 0.9243,0.07568 0.92370667686034658,0.07629332313965341 Region score:0.35; TSS score:0.25; Unmatched score:0.19; Average GERP:0.6168910891089109 GeneName:LINC00506; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000281392; TranscriptID:ENST00000629295; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000303 26252872 NONHSAT210772.1 rs140295727 C N/A 472 european ancestry cases//47 cases HP_0100543 N/A Associate Cognitive decline rate in late mild cognitive impairment rs140295727-C of NONHSAT210772.1 is significantly associated with the cognitive decline rate in late mild cognitive impairment by using GWAS analysis in 472 european ancestry cases//47 cases(p-value = 1E-8 ;OR = 0.4354). 0.4 Variations in the FRA10AC1 Fragile Site and 15q21 Are Associated with Cerebrospinal Fluid Abeta1-42 Level. genome-wide association analysis NONHSAT210772.1 lncRNA Cognitive impairment 0.33 CACCCCAAAA(C > T)AATACTTTGC chr6: 85984238 0.9964,0.003594 0.99156632262996941,0.00843367737003058 Region score:0.36; TSS score:0.04; Unmatched score:0.01; Average GERP:0.08841584158415847 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000304 21203500 NONHSAT031256.2 rs7953249 G N/A 2,559 european ancestry individuals EFO_0004999 N/A Associate N-glycan levels rs7953249-G of NONHSAT031256.2 is significantly associated with the n-glycan levels by using GWAS analysis in 2,559 european ancestry individuals(p-value = 2E-8 ;OR = 0.17). 0.4 Genomics meets glycomics-the first GWAS study of human N-Glycome identifies HNF1alpha as a master regulator of plasma protein fucosylation. genome-wide association analysis NONHSAT031256.2 lncRNA N-glycan measurement 0.451 GATATCTGTC(G > A)ACGGTAAATG chr12: 120965921 0.4311,0.5689 0.40623407237512742,0.59376592762487257 Region score:0.26; TSS score:0.34; Unmatched score:0.36; Average GERP:-0.8084158415841585 GeneName:HNF1A-AS1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000241388; TranscriptID:ENST00000539163; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000472095; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000472096; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000304 21908519 NONHSAT031256.2 rs7953249 G N/A up to 1,426 european ancestry male individuals//up to 1,941 european ancestry female individuals EFO_0004999 N/A Associate N-glycan levels rs7953249-G of NONHSAT031256.2 is significantly associated with the n-glycan levels by using GWAS analysis in up to 1,426 european ancestry male individuals//up to 1,941 european ancestry female individuals(p-value = 3E-11 ;OR = 0.17475872). 0.4 Polymorphisms in B3GAT1, SLC9A9 and MGAT5 are associated with variation within the human plasma N-glycome of 3533 European adults. genome-wide association analysis NONHSAT031256.2 lncRNA N-glycan measurement 0.451 GATATCTGTC(G > A)ACGGTAAATG chr12: 120965921 0.4311,0.5689 0.40623407237512742,0.59376592762487257 Region score:0.26; TSS score:0.34; Unmatched score:0.36; Average GERP:-0.8084158415841585 GeneName:HNF1A-AS1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000241388; TranscriptID:ENST00000539163; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000472095; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000472096; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000305 28270201 NONHSAT140806.2 rs571835655 A N/A 19,480 british ancestry individuals from 6863 families. EFO_0001073 N/A Associate Body fat percentage rs571835655-A of NONHSAT140806.2 is significantly associated with the body fat percentage by using GWAS analysis in 19,480 british ancestry individuals from 6863 families.(p-value = 2E-8 ;OR = 7.2517734). 0.4 Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants. genome-wide association analysis NONHSAT140806.2 lncRNA Obesity 0.33 GTAGCTTGTG(G > A)AGCAAATAGG chr16: 17083253 0.9998,0.0001997 0.99942660550458715,0.00057339449541284 N/A GeneName:AC109446.4; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000279490; TranscriptID:ENST00000623235; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000306 23251661 NONHSAT189474.1 rs1320561 G N/A 815 hispanic children from 263 families EFO_0005000 N/A Associate Obesity-related traits rs1320561-G of NONHSAT189474.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 1E-6 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. genome-wide association analysis NONHSAT189474.1 lncRNA Leptin measurement 0.33 CTACCTGTAT(G > A)TGTTAGCCCT chr20: 23117243 0.4834,0.5166 0.47696865443425076,0.52303134556574923 Region score:0.27; TSS score:0.45; Unmatched score:0.29; Average GERP:-0.9553727722772278 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000307 28892062 NONHSAT052809.2 rs180950758 T N/A up to 72,390 japanese ancestry women//up to 85,894 japanese ancestry men; up to 10,048 japanese ancestry women//up to 5,098 japanese ancestry men//up to 181,999 european ancestry women//up to 140,155 european ancestry controls EFO_0001073 N/A Associate Body mass index rs180950758-T of NONHSAT052809.2 is significantly associated with the body mass index by using GWAS analysis in up to 72,390 japanese ancestry women//up to 85,894 japanese ancestry men; up to 10,048 japanese ancestry women//up to 5,098 japanese ancestry men//up to 181,999 european ancestry women//up to 140,155 european ancestry controls(p-value = 3E-8 ;OR = 0.027). 0.4 Genome-wide association study identifies 112 new loci for body mass index in the Japanese population. genome-wide association analysis NONHSAT052809.2 lncRNA Obesity 0.33 GCTGCGGGGG(A > G,T)GATGCGGGCC chr17: 30709407 N/A 0.88764653414882772,0.00000796381243628,0.11234550203873598 Region score:0.44; TSS score:0.59; Unmatched score:0.96; Average GERP:0.5288079207920798 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000093025; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000553090; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SUZ12P1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000264538; TranscriptID:ENST00000579526; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000308 24625756 NONHSAT071625.2 rs13538 A N/A 1,260 african american individuals EFO_0005653 N/A Associate Serum metabolite levels rs13538-A of NONHSAT071625.2 is significantly associated with the serum metabolite levels by using GWAS analysis in 1,260 african american individuals(p-value = 4E-66 ;OR = 0.3). 0.4 Genetic determinants influencing human serum metabolome among African Americans. genome-wide association analysis NONHSAT071625.2 lncRNA Serum metabolite measurement 0.33 ACTGTCCACA(A > G)AGAGATGAAA chr2: 73641201 0.7304,0.2696 0.69170489296636085,0.30829510703363914 Region score:0.18; TSS score:0.47; Unmatched score:0.73; Average GERP:-0.02917128712871282 GeneName:ALMS1P1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000163016; TranscriptID:ENST00000450720; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000610056; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NAT8; CADD-Score:7; Consquence:missense; GeneID:ENSG00000144035; TranscriptID:ENST00000272425; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000309 27328823 mir-423 rs6505162 C N/A 17,008 AD cases and 37,154 controls EFO_0000249 N/A increasing risk Alzheimer's disease rs6505162-C of hsa-mir-423 and its dysfunction is significantly associated with the increasing risk of Alzheimers disease by using case-control analysis in 17,008 AD cases and 37,154 controls 0.4 Genome-wide identification of microRNA-related variants associated with risk of Alzheimer's disease. case-control analysis hsa-mir-423 miRNA Alzheimers disease 0.33 TTGCTTCCTA(A > C,T)CCCGCGCTTG chr17: 30117165 0.5022,0.4978,. 0.57055937818552497,0.42940876656472986,0.00003185524974515 Region score:0.43; TSS score:0.32; Unmatched score:0.93; Average GERP:3.269841584158416 GeneName:AC104984.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000265394; TranscriptID:ENST00000582938; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC104984.5; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000266919; TranscriptID:ENST00000586878; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3184; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284399; TranscriptID:ENST00000637796; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR423; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000283935; TranscriptID:ENST00000362201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000092957; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NSRP1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000126653; TranscriptID:ENST00000247026; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000310 22544366 NONHSAT157147.1 rs10824026 A N/A 6,707 european ancestry cases//52,426 european ancestry controls; 5,381 european ancestry casses//10,030 european ancestry controls EFO_0000275 N/A Associate Atrial fibrillation rs10824026-A of NONHSAT157147.1 is significantly associated with the atrial fibrillation by using GWAS analysis in 6,707 european ancestry cases//52,426 european ancestry controls; 5,381 european ancestry casses//10,030 european ancestry controls(p-value = 4E-9 ;OR = 1.15). 0.4 Meta-analysis identifies six new susceptibility loci for atrial fibrillation. genome-wide association analysis NONHSAT157147.1 lncRNA Atrial fibrillation 0.451 TTTCTGTTGC(G > A)AAATACTTCA chr10: 73661450 0.3982,0.6018 0.33285550458715596,0.66714449541284403 Region score:0.32; TSS score:0.4; Unmatched score:0.35; Average GERP:0.13104950495049522 GeneName:AC073389.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000271848; TranscriptID:ENST00000606726; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000407937; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SYNPO2L; CADD-Score:2; Consquence:intron; GeneID:ENSG00000166317; TranscriptID:ENST00000606523; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000310 28416818 NONHSAT157147.1 rs10824026 A N/A 7,323 european ancestry cases//102,776 european ancestry controls.; EFO_0000275 N/A Associate Atrial fibrillation rs10824026-A of NONHSAT157147.1 is significantly associated with the atrial fibrillation by using GWAS analysis in 7,323 european ancestry cases//102,776 european ancestry controls.; (p-value = 8E-11 ;OR = 1.13). 0.4 Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation. genome-wide association analysis NONHSAT157147.1 lncRNA Atrial fibrillation 0.451 TTTCTGTTGC(G > A)AAATACTTCA chr10: 73661450 0.3982,0.6018 0.33285550458715596,0.66714449541284403 Region score:0.32; TSS score:0.4; Unmatched score:0.35; Average GERP:0.13104950495049522 GeneName:AC073389.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000271848; TranscriptID:ENST00000606726; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000407937; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SYNPO2L; CADD-Score:2; Consquence:intron; GeneID:ENSG00000166317; TranscriptID:ENST00000606523; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000311 25390645 NONHSAT148272.1 rs12120353 A N/A 324 african american cases//273 african american controls//757 european ancestry cases//940 european ancestry controls EFO_0006788 N/A Associate Anxiety disorder rs12120353-A of NONHSAT148272.1 is significantly associated with the anxiety disorder by using GWAS analysis in 324 african american cases//273 african american controls//757 european ancestry cases//940 european ancestry controls(p-value = 3E-6 ;OR = 2.13). 0.4 Genome-wide and gene-based association studies of anxiety disorders in European and African American samples. genome-wide association analysis NONHSAT148272.1 lncRNA Anxiety disorder 0.33 AATGAACCAA(C > A,T)CCATTCTGAG chr1: 4560936 0.8347,0.1653,. 0.80126306065239551,0.19872897553516819,0.00000796381243628 Region score:0.38; TSS score:0.25; Unmatched score:0.08; Average GERP:-1.5181551485148512 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000312 28240269 NONHSAT202532.1 rs13157656 C N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0008093 N/A Associate Blood protein levels rs13157656-C of NONHSAT202532.1 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 1E-16 ;OR = 0.4008). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. genome-wide association analysis NONHSAT202532.1 lncRNA Complement component c7 measurement 0.33 GGATGAAGGT(A > C)CAATGTTTCC chr5: 40964750 0.8073,0.1927 0.81876752038735983,0.18123247961264016 Region score:0.11; TSS score:0.15; Unmatched score:0.43; Average GERP:1.798742574257425 GeneName:AC114967.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000248120; TranscriptID:ENST00000504890; AnnoType:DOWNSTREAM; mirSVR-Score:-0.9382; mirSVR-E:-16.91 | GeneName:C7; CADD-Score:7; Consquence:missense; GeneID:ENSG00000112936; TranscriptID:ENST00000313164; AnnoType:NON_SYNONYMOUS; mirSVR-Score:-0.9382; mirSVR-E:-16.91 | NCRV0000000313 23382691 NONHSAT189188.1 rs6084946 C N/A 2,247 european ancestry individuals EFO_0002690 N/A Associate Igg glycosylation rs6084946-C of NONHSAT189188.1 is significantly associated with the igg glycosylation by using GWAS analysis in 2,247 european ancestry individuals(p-value = 5E-6 ;OR = 0.2176). 0.4 Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. genome-wide association analysis NONHSAT189188.1 lncRNA Systemic lupus erythematosus 0.33 GCAGCCATTG(G > C)GTTGGGCCCT chr20: 569274 0.6925,0.3075 0.68751592762487257,0.31248407237512742 Region score:0.42; TSS score:0.48; Unmatched score:0.26; Average GERP:-0.938732673267327 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000314 25847876 miR-4717-5p rs150925 G Dominant 477 patients and 1096 controls EFO_0006788 N/A Increasing risk Anxiety-related traits rs150925-G of miR-4717-5p and its dysfunction is significantly associated with the increasing risk of anxiety-related traits by using case-control analysis in 477 patients and 1096 controls. 0.4 MicroRNA hsa-miR-4717-5p regulates RGS2 and may be a risk factor for anxiety-related traits. case-control analysis hsa-mir-4717 miRNA Anxiety disorder 0.33 CCTTGAGGAT(T > G)TCCCTGGGAT chr16: 2274068 0.5076,0.4924 0.46112863149847094,0.53887136850152905 Region score:0.17; TSS score:0.18; Unmatched score:0.31; Average GERP:-0.6075038613861384 GeneName:ABCA3; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000167972; TranscriptID:ENST00000301732; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC009065.4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000260778; TranscriptID:ENST00000563734; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3677; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000266643; TranscriptID:ENST00000578964; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR4717; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000264004; TranscriptID:ENST00000584656; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR940; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000284346; TranscriptID:ENST00000401276; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000315 23108145 NONHSAT066773.2 rs13181 C N/A 914 european ancestry non-small cell lung cancer cases//860 european ancestry controls; 679 european ancestry ancestry non-small cell lung cancer cases//695 european ancestry controls EFO_0001071 N/A Associate Lung cancer (dna repair capacity) rs13181-C of NONHSAT066773.2 is significantly associated with the lung cancer (dna repair capacity) by using GWAS analysis in 914 european ancestry non-small cell lung cancer cases//860 european ancestry controls; 679 european ancestry ancestry non-small cell lung cancer cases//695 european ancestry controls(p-value = 9E-7 ;OR = ?). 0.4 Genome-wide association study reveals novel genetic determinants of DNA repair capacity in lung cancer. genome-wide association analysis NONHSAT066773.2 lncRNA Lung cancer 0.33 TCTATCCTCT(T > A,G)CAGCGTCTCC chr19: 45351661 0.7634,.,0.2366 0.70187468144750254,.,0.29812531855249745 Region score:0.32; TSS score:0.53; Unmatched score:0.7; Average GERP:1.6909009900990088 GeneName:ERCC2; CADD-Score:7; Consquence:missense; GeneID:ENSG00000104884; TranscriptID:ENST00000391945; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ERCC2; CADD-Score:8; Consquence:stop_gained; GeneID:ENSG00000104884; TranscriptID:ENST00000391945; AnnoType:STOP_GAINED; mirSVR-Score:NA; mirSVR-E:NA | GeneName:KLC3; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000104892; TranscriptID:ENST00000391946; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000316 25187374 NONHSAT181702.1 rs895636 ? N/A 24,740 east asian ancestry individuals; 21,345 east asian ancestry individuals EFO_0001360 N/A Associate Fasting plasma glucose rs895636-? of NONHSAT181702.1 is significantly associated with the fasting plasma glucose by using GWAS analysis in 24,740 east asian ancestry individuals; 21,345 east asian ancestry individuals(p-value = 3E-13 ;OR = 0.069). 0.4 Genome-wide association meta-analysis identifies novel variants associated with fasting plasma glucose in East Asians. genome-wide association analysis NONHSAT181702.1 lncRNA Type ii diabetes mellitus 0.33 GTCTCCTCCT(C > T)GGTTGTTTGG chr2: 44961214 0.7137,0.2863 0.76924057084607543,0.23075942915392456 Region score:0.37; TSS score:0.46; Unmatched score:0.52; Average GERP:-0.42998514851485165 GeneName:AC012354.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000225156; TranscriptID:ENST00000425325; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000317 22754043 NONHSAT197114.1 rs11706236 ? N/A 2,402 european ancestry individuals from 1,470 families EFO_0004698 caffeine-induced Associate Insomnia (caffeine-induced) rs11706236-? of NONHSAT197114.1 is significantly associated with the insomnia (caffeine-induced) by using GWAS analysis in 2,402 european ancestry individuals from 1,470 families(p-value = 4E-6 ;OR = 1.59). 0.4 A genome-wide association study of caffeine-related sleep disturbance: confirmation of a role for a common variant in the adenosine receptor. genome-wide association analysis NONHSAT197114.1 lncRNA Insomnia 0.33 TGCTCATGGA(A > G)AATTTCCCAA chr3: 55154246 0.9359,0.0641 0.90173451834862385,0.09826548165137614 Region score:0.3; TSS score:0.33; Unmatched score:0.09; Average GERP:-0.13448217821782185 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000318 22911880 NONHSAT218719.1 rs218361 G N/A up to 2,567 european ancestry individuals; up to 767 european ancestry cases//up to 486 european ancestry controls EFO_0000677 N/A Associate Eating disorders rs218361-G of NONHSAT218719.1 is significantly associated with the eating disorders by using GWAS analysis in up to 2,567 european ancestry individuals; up to 767 european ancestry cases//up to 486 european ancestry controls(p-value = 7E-6 ;OR = 1.061). 0.4 Genome-wide association analysis of eating disorder-related symptoms, behaviors, and personality traits. genome-wide association analysis NONHSAT218719.1 lncRNA Mental or behavioural disorder 0.33 CTTCTTTCTT(G > A,C)ATTTCTCCAC chr8: 115098496 0.5355,0.4645,. 0.49930714831804281,0.50012742099898063,0.00056543068297655 Region score:0.37; TSS score:0.32; Unmatched score:0.12; Average GERP:-0.9176752475247524 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000866441; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000319 24430505 NONHSAT174674.1 rs7188801 G N/A 2,483 east asian ancestry individuals//1,885 european ancestry individuals//11,146 individuals; 10,074 european ancestry individuals//2,870 european and other ancestry individuals//21,434 individuals EFO_0005654 N/A Associate Bone properties (heel) rs7188801-G of NONHSAT174674.1 is significantly associated with the bone properties (heel) by using GWAS analysis in 2,483 east asian ancestry individuals//1,885 european ancestry individuals//11,146 individuals; 10,074 european ancestry individuals//2,870 european and other ancestry individuals//21,434 individuals(p-value = 8E-6 ;OR = 0.05). 0.4 Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium. genome-wide association analysis NONHSAT174674.1 lncRNA Velocity of sound measurement 0.33 TCATACATCC(G > A,C,T)TCTGCCGATT chr16: 86674163 0.8011,0.1989,.,. 0.80928261977573904,0.18978561416921508,0.00092380224260958,0.00000796381243628 Region score:0.34; TSS score:0.12; Unmatched score:0.04; Average GERP:0.1013861386138614 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000320 28282560 NONHSAT212885.1 rs77300744 A N/A 7,189 european ancestry individuals EFO_0006501 N/A Associate Carotid plaque burden rs77300744-A of NONHSAT212885.1 is significantly associated with the carotid plaque burden by using GWAS analysis in 7,189 european ancestry individuals(p-value = 5E-6 ;OR = 0.44842723). 0.4 Genome-wide meta-analysis identifies novel loci of plaque burden in carotid artery. genome-wide association analysis NONHSAT212885.1 lncRNA Carotid plaque build 0.33 TGCTTCCCAC(G > A)CTGCCATCTC chr7: 151377657 0.9934,0.006589 0.98954351427115188,0.01045648572884811 Region score:0.41; TSS score:0.53; Unmatched score:0.72; Average GERP:-1.282366336633663 GeneName:NUB1; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000013374; TranscriptID:ENST00000568733; AnnoType:3PRIME_UTR; mirSVR-Score:-0.3277; mirSVR-E:-26.36 | GeneName:WDR86; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000187260; TranscriptID:ENST00000469830; AnnoType:DOWNSTREAM; mirSVR-Score:-0.3277; mirSVR-E:-26.36 | NCRV0000000321 26343387 NONHSAT048220.2 rs8042271 G N/A 42,096 european ancestry cases//361 african american cases//758 hispanic american cases//12,658 south asian ancestry cases//1,802 lebanese ancestry cases//3,614 east asian ancestry cases//99,121 european ancestry controls//2,778 african american controls//3,337 hispanic american controls//12,899 south asian ancestry controls//466 lebanese ancestry controls//7,709 east asian ancestry controls EFO_0000378 N/A Associate Coronary artery disease rs8042271-G of NONHSAT048220.2 is significantly associated with the coronary artery disease by using GWAS analysis in 42,096 european ancestry cases//361 african american cases//758 hispanic american cases//12,658 south asian ancestry cases//1,802 lebanese ancestry cases//3,614 east asian ancestry cases//99,121 european ancestry controls//2,778 african american controls//3,337 hispanic american controls//12,899 south asian ancestry controls//466 lebanese ancestry controls//7,709 east asian ancestry controls(p-value = 4E-8 ;OR = 1.1). 0.4 A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease. genome-wide association analysis NONHSAT048220.2 lncRNA Coronary artery disease 0.33 TCTTAAAAGC(G > A,T)GCGTGTCTGG chr15: 89030987 0.6941,0.3059,. 0.77178899082568807,0.22817119011213047,0.00003981906218144 Region score:0.16; TSS score:0.28; Unmatched score:0.12; Average GERP:0.03355670103092783 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000322 28540026 NONHSAT148332.1 rs301798 ? N/A schizophrenia cases and controls (see ripke//2014)cases//up to 1,190 controls EFO_0000692 N/A Associate Schizophrenia rs301798-? of NONHSAT148332.1 is significantly associated with the schizophrenia by using GWAS analysis in schizophrenia cases and controls (see ripke//2014)cases//up to 1,190 controls(p-value = 7E-9 ;OR = 1.0638298). 0.4 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. genome-wide association analysis NONHSAT148332.1 lncRNA Schizophrenia 0.33 GTTTTCCACT(A > G)TTGAGCTGAA chr1: 8428505 0.7712,0.2288 0.71015704638124362,0.28984295361875637 Region score:0.33; TSS score:0.34; Unmatched score:0.55; Average GERP:-0.1451910891089109 GeneName:RERE-AS1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000232912; TranscriptID:ENST00000449895; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RERE; CADD-Score:2; Consquence:intron; GeneID:ENSG00000142599; TranscriptID:ENST00000337907; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000323 27197292 piR-11714 rs142742690 ? N/a 1,840 glioma cases and 2,401 controls EFO_0005543 N/A Decreasing risk Glioma rs142742690-? of piR-11714 and its dysfunction is significantly associated with the decreasing risk of glioma by using genome-wide association analysis in 1,840 glioma cases and 2,401 controls. 0.4 PIWI-Interacting RNAs in Gliomagenesis: Evidence from Post-GWAS and Functional Analyses. genome-wide association analysis piR-11714 piRNA Glioma 0.33 CTGAAGTTTG(C > T)TGCTGCCACT chr9: 88324725 0.9679,0.03215 0.96469641946992864,0.03530358053007135 Region score:0.36; TSS score:0.11; Unmatched score:0.29; Average GERP:0.17338613861386146 GeneName:RPSAP49; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000226327; TranscriptID:ENST00000445182; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000324 29878850 LINC01395 rs1814343 ? N/A 395 Lung Cancer cases and 556 controls in a Chinese Never-Smoking Female Population EFO_0001071 N/A no significance for risk lung carcinoma rs1814343-? of LINC01395 and its dysfunction is not significantly associated with Lung carcinoma by using case-control analysis in 395 Lung Cancer cases and 556 controls in a Chinese Never-Smoking Female Population -0.4 Association Between Four Polymorphisms in lncRNA and Risk of Lung Cancer in a Chinese Never-Smoking Female Population. case-control analysis LINC01395 lncRNA Lung carcinoma -0.33 AAAAGAAAAT(C > T)ATCTCATGAA chr11: 129695357 0.7456,0.2544 0.78145705912334352,0.21854294087665647 Region score:0.31; TSS score:0.38; Unmatched score:0.31; Average GERP:-1.0331032673267326 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000266555; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000325 22778062 SNORA34 rs77994717 C N/a N/a function N/A Not significant changes in the structure Function rs77994717-C of SNORA34 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORA34 snoRNA Function -0.049 N/A N/A N/A N/A N/A N/A NCRV0000000326 28404885 H19 rs217727 A N/a 33,209 participants EFO_0000311 N/A No significance for risk Cancer rs217727-A of H19 and its dysfunction is not significantly associated with cancer by using meta-analysis in 33,209 participants. -0.4 Significant association between lncRNA H19 polymorphisms and cancer susceptibility: a meta-analysis. meta-analysis H19 lncRNA Cancer -0.33 TCAACCGTCC(G > A)CCGCAGGGGG chr11: 1995678 N/A 1 Region score:0.7; TSS score:0.82; Unmatched score:0.94; Average GERP:-0.47433900495049497 GeneName:H19; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000130600; TranscriptID:ENST00000414790; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.5598; mirSVR-E:-26.23 | GeneName:LINC01219; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000232987; TranscriptID:ENST00000418612; AnnoType:DOWNSTREAM; mirSVR-Score:-0.5598; mirSVR-E:-26.23 | GeneName:MIR675; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000284010; TranscriptID:ENST00000390168; AnnoType:DOWNSTREAM; mirSVR-Score:-0.5598; mirSVR-E:-26.23 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000035875; AnnoType:REGULATORY; mirSVR-Score:-0.5598; mirSVR-E:-26.23 | GeneName:RF01972; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000275266; TranscriptID:ENST00000617997; AnnoType:UPSTREAM; mirSVR-Score:-0.5598; mirSVR-E:-26.23 | GeneName:RF01973; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000274866; TranscriptID:ENST00000620857; AnnoType:UPSTREAM; mirSVR-Score:-0.5598; mirSVR-E:-26.23 | NCRV0000000327 28991256 NONHSAT194770.1 rs192812 C N/A 7,699 chinese ancestry cases//35,476 european ancestry cases//18,327 chinese ancestry controls//46,839 european ancestry controls; 4,384 chinese ancestry cases//5,770 chinese ancestry controls EFO_0000692 N/A Associate Schizophrenia rs192812-C of NONHSAT194770.1 is significantly associated with the schizophrenia by using GWAS analysis in 7,699 chinese ancestry cases//35,476 european ancestry cases//18,327 chinese ancestry controls//46,839 european ancestry controls; 4,384 chinese ancestry cases//5,770 chinese ancestry controls(p-value = 9E-8 ;OR = 1.0537407). 0.4 Genome-wide association analysis identifies 30 new susceptibility loci for schizophrenia. genome-wide association analysis NONHSAT194770.1 lncRNA Schizophrenia 0.33 GAAGTTGCTT(C > T)CACTGGTAAG chr3: 161774043 0.6667,0.3333 0.65055587410805300,0.34944412589194699 Region score:0.25; TSS score:0.11; Unmatched score:0.03; Average GERP:-0.8593663366336631 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000328 28067908 NONHSAT067101.2 rs516246 ? N/A 25,042 european and unknown ancestry cases//34,915 european and unknown ancestry controls EFO_0003767 N/A Associate Inflammatory bowel disease rs516246-? of NONHSAT067101.2 is significantly associated with the inflammatory bowel disease by using GWAS analysis in 25,042 european and unknown ancestry cases//34,915 european and unknown ancestry controls(p-value = 5E-6 ;OR = ?). 0.4 Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease. genome-wide association analysis NONHSAT067101.2 lncRNA Inflammatory bowel disease 0.451 CCCGGGCCTC(C > T)ATCTCCCAGC chr19: 48702915 0.6793,0.3207 0.56168769113149847,0.43831230886850152 Region score:0.17; TSS score:0.18; Unmatched score:0.15; Average GERP:-1.6955256435643564 GeneName:FUT2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000176920; TranscriptID:ENST00000425340; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000328 26192919 NONHSAT067101.2 rs516246 A N/A 12,882 european ancestry cases//21,770 european ancestry controls; 25,273 european ancestry cases//26,715 european ancestry controls//548 iranian ancestry cases//342 iranian ancestry control//1,423 indian ancestry cases//990 indian ancestry controls//2,824 east asian ancestry cases//3,719 east asian ancestry controls EFO_0003767 N/A Associate Inflammatory bowel disease rs516246-A of NONHSAT067101.2 is significantly associated with the inflammatory bowel disease by using GWAS analysis in 12,882 european ancestry cases//21,770 european ancestry controls; 25,273 european ancestry cases//26,715 european ancestry controls//548 iranian ancestry cases//342 iranian ancestry control//1,423 indian ancestry cases//990 indian ancestry controls//2,824 east asian ancestry cases//3,719 east asian ancestry controls(p-value = 1E-13 ;OR = 1.0784879). 0.4 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. genome-wide association analysis NONHSAT067101.2 lncRNA Inflammatory bowel disease 0.451 CCCGGGCCTC(C > T)ATCTCCCAGC chr19: 48702915 0.6793,0.3207 0.56168769113149847,0.43831230886850152 Region score:0.17; TSS score:0.18; Unmatched score:0.15; Average GERP:-1.6955256435643564 GeneName:FUT2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000176920; TranscriptID:ENST00000425340; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000329 27149984 NONHSAT151255.1 rs9426691 G N/A up to 1,300 european ancestry individuals EFO_0007836 N/A Associate Coenzyme q10 levels rs9426691-G of NONHSAT151255.1 is significantly associated with the coenzyme q10 levels by using GWAS analysis in up to 1,300 european ancestry individuals(p-value = 4E-6 ;OR = 0.032). 0.4 Genome-wide association study of serum coenzyme Q10 levels identifies susceptibility loci linked to neuronal diseases. genome-wide association analysis NONHSAT151255.1 lncRNA Coenzyme q10 measurement 0.33 AGCACTTTGG(A > G)AGGCCAAGGC chr1: 23158411 0.5998,0.4002 0.66627643985728848,0.33372356014271151 Region score:0.31; TSS score:0.1; Unmatched score:0.01; Average GERP:-0.2919504950495047 GeneName:LUZP1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000169641; TranscriptID:ENST00000302291; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RNU6-514P; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000206935; TranscriptID:ENST00000384208; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000330 29228715 NONHSAT167225.1 rs7985095 ? N/A 855 austrian ancestry colonoscopy-negative controls//3,439 european ancestry controls NCIT_C16450 N/A Associate Colonoscopy-negative controls vs population controls rs7985095-? of NONHSAT167225.1 is significantly associated with the colonoscopy-negative controls vs population controls by using GWAS analysis in 855 austrian ancestry colonoscopy-negative controls//3,439 european ancestry controls(p-value = 8E-6 ;OR = 1.3544629). 0.4 Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas. genome-wide association analysis NONHSAT167225.1 lncRNA Colonoscopy 0.33 N/A N/A N/A N/A N/A N/A NCRV0000000331 27863252 NONHSAT197522.1 rs11359909 A N/A 169,219 european ancestry individuals EFO_0007988 N/A Associate Myeloid white cell count rs11359909-A of NONHSAT197522.1 is significantly associated with the myeloid white cell count by using GWAS analysis in 169,219 european ancestry individuals(p-value = 5E-21 ;OR = 0.05511717). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT197522.1 lncRNA Myeloid white cell count 0.33 TAGGAAGCAG(AG > A)GGGGGGACCC chr3: 128603030 N/A 0.11369935015290519,0.88630064984709480 N/A GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000332 24888363 MIR137 rs58335419 ? Dominant 345 BD patients, 426 SZ patients and 1376 healthy individuals, all unrelated, in V?sterbotten region of Northern Sweden EFO_0000692 N/A increasing risk schizophrenia rs58335419-? of hsa-mir-137 and its dysfunction is significantly associated with the increasing risk of Schizophrenia by using case-control analysis in 345 BD patients, 426 SZ patients and 1376 healthy individuals, all unrelated, in V?sterbotten region of Northern Sweden 0.9 MIR137 variants identified in psychiatric patients affect synaptogenesis and neuronal transmission gene sets. case-control analysis hsa-mir-137 miRNA Schizophrenia 0.593 GGACCAAGCT(G > GCCGCTGCCGCTGCTA)CCGCTGCCGC chr1: 98046177 0 RS=58335419;RSPOS=98046223;dbSNPBuildID=129;SSR=0;SAO=0;VP=0x050028020005000002000200;GENEINFO=MIR137:406928|MIR2682:100616452|MIR137HG:400765;WGT=1;VC=DIV;PM;PMC;R5;ASP - GeneName:MIR137; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284202; TranscriptID:ENST00000385223; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR137HG; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000225206; TranscriptID:ENST00000634594; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR2682; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284247; TranscriptID:ENST00000580305; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000010436; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000366415; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000333 21107309 NONHSAT164674.1 rs17126180 ? N/A 738 european ancestry//african american//and other ancestry cases EFO_0004350 N/A Associate Response to antipsychotic treatment in schizophrenia (reasoning) rs17126180-? of NONHSAT164674.1 is significantly associated with the response to antipsychotic treatment in schizophrenia (reasoning) by using GWAS analysis in 738 european ancestry//african american//and other ancestry cases(p-value = 9E-7 ;OR = ?). 0.4 Genome-wide pharmacogenomic study of neurocognition as an indicator of antipsychotic treatment response in schizophrenia. genome-wide association analysis NONHSAT164674.1 lncRNA Reasoning 0.33 CCTGCACAAT(C > G,T)GAAAAGACTC chr12: 51870172 0.872,0.128,. 0.92438360091743119,0.07532970183486238,0.00028669724770642 Region score:0.25; TSS score:0.54; Unmatched score:0.42; Average GERP:-0.48917821782178234 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000457943; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000334 27723756 NONHSAT195086.1 rs7646786 T N/A 1,812 european ancestry individuals EFO_0007874 bacterial taxa Associate Gut microbiota (bacterial taxa) rs7646786-T of NONHSAT195086.1 is significantly associated with the gut microbiota (bacterial taxa) by using GWAS analysis in 1,812 european ancestry individuals(p-value = 2E-8 ;OR = 0.22). 0.4 Genome-wide association analysis identifies variation in vitamin D receptor and other host factors influencing the gut microbiota. genome-wide association analysis NONHSAT195086.1 lncRNA Gut microbiome measurement 0.33 TGTCTACAAG(C > G,T)CAAGGAACAC chr3: 186012260 0.6677,.,0.3323 0.57514653414882772,0.00477828746177370,0.42007517838939857 Region score:0.26; TSS score:0.27; Unmatched score:0.18; Average GERP:-0.37197623762376253 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000335 27328823 mir-5191 rs138079376 A N/A 17,008 AD cases and 37,154 controls EFO_0000249 N/A increasing risk Alzheimer's disease rs138079376-A of hsa-mir-5191 and its dysfunction is significantly associated with the increasing risk of Alzheimers disease by using case-control analysis in 17,008 AD cases and 37,154 controls 0.4 Genome-wide identification of microRNA-related variants associated with risk of Alzheimer's disease. case-control analysis hsa-mir-5191 miRNA Alzheimers disease 0.33 AGTGCTGGGC(G > A)CTTAGGGGGA chr1: 201719605 0.9958,0.004193 0.99285646024464831,0.00714353975535168 Region score:0.33; TSS score:0.23; Unmatched score:0.49; Average GERP:-0.8249233465346538 GeneName:AL645504.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000235121; TranscriptID:ENST00000429443; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:IPO9-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000231871; TranscriptID:ENST00000413035; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR5191; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000264802; TranscriptID:ENST00000577455; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NAV1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000134369; TranscriptID:ENST00000367296; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000336 26114385 miR-146a rs2910164 G N/a 3138 coronary artery disease cases and 3097 controls HP_0002140 N/A No significance for risk Ischemic stroke rs2910164-G of miR-146a and its dysfunction is not significantly associated with ischemic stroke by using meta-analysis in 3138 Coronary artery disease cases and 3097 controls. -0.4 Meta-Analysis of miR-146a Polymorphisms Association with Coronary Artery Diseases and Ischemic Stroke. meta-analysis hsa-mir-146a miRNA Ischemic stroke 0.565 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 N/A 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000336 26608782 miR-146a rs2910164 G N/a 378 ischemic stroke cases and 553 controls in korea HP_0002140 N/A Increasing risk Ischemic stroke rs2910164-G of miR-146a and its dysfunction is significantly associated with the increasing risk of ischemic stroke by using meta-analysis in 378 ischemic stroke cases and 553 controls in Korea. 0.4 Association Between Single-Nucleotide Polymorphism (SNP) in miR-146a, miR-196a2, and miR-499 and Risk of Ischemic Stroke: A Meta-Analysis. meta-analysis hsa-mir-146a miRNA Ischemic stroke 0.565 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 N/A 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000336 27164084 MicroRNA-146a rs2910164 G Recessive 1139 ischemic stroke patients and 1585 sex- and age-matched control subjects HP_0002140 N/A poor prognosis and no significance for incidence Ischemic stroke rs2910164-G of hsa-mir-146a and its dysfunction is significantly associated with the poor prognosis of Ischemic stroke by using case-control analysis in 1139 ischemic stroke patients and 1585 sex- and age-matched control subjects 0.4 Association of the MicroRNA-146a SNP rs2910164 with Ischemic Stroke Incidence and Prognosis in a Chinese Population. case-control analysis hsa-mir-146a miRNA Ischemic stroke 0.565 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 0 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000336 31738890 miR-146a rs2910164 G N/A 150 healthy controls (group I), 150 chronic schizophrenic patients without any evidences of stroke (group II) and 150 chronic schizophrenic patients with AIS (group III) HP_0002140 N/A increasing risk Ischemic stroke rs2910164-G of hsa-mir-146a and its dysfunction is significantly associated with the increasing risk of Ischemic stroke by using two-stage association study in 150 healthy controls (group I), 150 chronic schizophrenic patients without any evidences of stroke (group II) and 150 chronic schizophrenic patients with AIS (group III) 0.9 Micro RNA 146a gene variant / TNF-伪 / IL-6 / IL-1 尾; A cross-link axis inbetween oxidative stress, endothelial dysfunction and neuro-inflammation in acute ischemic stroke and chronic schizophrenic patients. two-stage association study hsa-mir-146a miRNA Ischemic stroke 0.565 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 0 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000337 27225129 NONHSAT070902.2 rs356992 C N/A 405,072 european ancestry individuals EFO_0004784 N/A Associate Educational attainment (years of education) rs356992-C of NONHSAT070902.2 is significantly associated with the educational attainment (years of education) by using GWAS analysis in 405,072 european ancestry individuals(p-value = 4E-12 ;OR = 0.016876938). 0.4 Genome-wide association study identifies 74 loci associated with educational attainment. genome-wide association analysis NONHSAT070902.2 lncRNA Self reported educational attainment 0.33 CCCCCCACCC(C > A,G)CTCTGCATCG chr2: 60526458 0.3147,.,0.6853 0.33017966360856269,0.00002389143730886,0.66979644495412844 Region score:0.48; TSS score:0.36; Unmatched score:0.4; Average GERP:2.5339009900990095 GeneName:BCL11A; CADD-Score:2; Consquence:intron; GeneID:ENSG00000119866; TranscriptID:ENST00000642384; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000338 25673412 NONHSAT186577.1 rs6755502 T N/A up to 56,910 european ancestry men//up to 86,570 european ancestry women; up to 36,570 european ancestry men//30,172 european ancestry women//915 filipino ancestry men//735 filipino ancestry women//2,351 african american/afro-caribbean ancestry men//6,258 african american/afro-caribbean ancestry women//2,285 south asian ancestry men//506 south asian ancestry women//195 seychellois ancestry men//266 seychellois ancestry women EFO_0005093 N/A Associate Hip circumference rs6755502-T of NONHSAT186577.1 is significantly associated with the hip circumference by using GWAS analysis in up to 56,910 european ancestry men//up to 86,570 european ancestry women; up to 36,570 european ancestry men//30,172 european ancestry women//915 filipino ancestry men//735 filipino ancestry women//2,351 african american/afro-caribbean ancestry men//6,258 african american/afro-caribbean ancestry women//2,285 south asian ancestry men//506 south asian ancestry women//195 seychellois ancestry men//266 seychellois ancestry women(p-value = 2E-14 ;OR = 0.0498). 0.4 New genetic loci link adipose and insulin biology to body fat distribution. genome-wide association analysis NONHSAT186577.1 lncRNA Hip circumference 0.33 TATAATCCTC(T > C)TATTGACGGT chr2: 635721 0.1224,0.8776 0.14733053007135575,0.85266946992864424 Region score:0.29; TSS score:0.36; Unmatched score:0.16; Average GERP:-0.28546950495049506 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000339 27328823 mir-4669 rs35196866 A N/A 17,008 AD cases and 37,154 controls EFO_0000249 N/A increasing risk Alzheimer's disease rs35196866-A of hsa-mir-4669 and its dysfunction is significantly associated with the increasing risk of Alzheimers disease by using case-control analysis in 17,008 AD cases and 37,154 controls 0.4 Genome-wide identification of microRNA-related variants associated with risk of Alzheimer's disease. case-control analysis hsa-mir-4669 miRNA Alzheimers disease 0.33 TGGAGGAGGG(C > A)CCCCAGGACC chr9: 134379472 0.3962,0.6038 0.35602223496432212,0.64397776503567787 Region score:0.32; TSS score:0.26; Unmatched score:0.53; Average GERP:-0.7038465346534659 GeneName:MIR4669; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000263897; TranscriptID:ENST00000585099; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RXRA; CADD-Score:2; Consquence:intron; GeneID:ENSG00000186350; TranscriptID:ENST00000481739; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000340 22659075 miRNA-196a2 rs11614913 T Recessive 107 patients with moyamoya disease and 240 healthy controls Orphanet_2573 N/A Decreasing risk Moyamoya disease rs11614913-T of miRNA-196a2 and its dysfunction is significantly associated with the decreasing risk of moyamoya disease by using case-control analysis in 107 patients with moyamoya disease and 240 healthy controls. 0.4 Association of the miR-146aC>G, miR-196a2C>T, and miR-499A>G polymorphisms with moyamoya disease in the Korean population. case-control analysis hsa-mir-196a-2 miRNA Moyamoya disease 0.33 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000341 21658281 NONHSAT069162.2 rs6716724 ? N/A 88 european ancestry cases//517 european ancestry controls EFO_0004278 N/A Associate Sudden cardiac arrest rs6716724-? of NONHSAT069162.2 is significantly associated with the sudden cardiac arrest by using GWAS analysis in 88 european ancestry cases//517 european ancestry controls(p-value = 6E-7 ;OR = 1.39). 0.4 GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease. genome-wide association analysis NONHSAT069162.2 lncRNA Sudden cardiac arrest 0.33 TGCCTAGTAC(A > G)TCCTGGAGGC chr2: 11370822 0.2612,0.7388 0.19322598114169215,0.80677401885830784 Region score:0.52; TSS score:0.51; Unmatched score:0.39; Average GERP:-0.10929178217821761 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000342 29930469 MALAT1 rs4102217 C N/A 521 hepatocellular cancer patients and frequency-matched 817 controls EFO_0000182 N/A increasing risk hepatocellular carcinoma rs4102217-C of MALAT1 and its dysfunction is significantly associated with the increasing risk of Hepatocellular carcinoma by using case-control analysis in 521 hepatocellular cancer patients and frequency-matched 817 controls 0.4 Association of twelve polymorphisms in three onco-lncRNA genes with hepatocellular cancer risk and prognosis: A case-control study. case-control analysis MALAT1 lncRNA Hepatocellular carcinoma 0.33 AGAAGTGCTG(G > C)AGAGGAAGGG chr11: 65496424 0.8718,0.1282 0.83986365953109072,0.16013634046890927 Region score:0.41; TSS score:0.52; Unmatched score:0.67; Average GERP:-1.0584665346534654 GeneName:AP000769.2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000270117; TranscriptID:ENST00000602344; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MALAT1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000251562; TranscriptID:ENST00000534336; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000432700; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000343 22586447 miR-608 rs4919510 G recessive the first set including 1,138 sporadic breast cancer patients and 1,434 community-based controls, and the second set including 294 familial/early-onset breast cancer patients and 500 hospital-based cancer-free controls EFO_1000294 N/A increasing risk HER2 Positive Breast Carcinoma rs4919510-G of hsa-mir-608 and its dysfunction is significantly associated with the increasing risk of Her2 positive breast carcinoma by using case-control analysis in the first set including 1,138 sporadic breast cancer patients and 1,434 community-based controls, and the second set including 294 familial/early-onset breast cancer patients and 500 hospital-based cancer-free controls 0.4 Polymorphism rs4919510:C>G in mature sequence of human microRNA-608 contributes to the risk of HER2-positive breast cancer but not other subtypes. case-control analysis hsa-mir-608 miRNA Her2 positive breast carcinoma 0.33 TGGGACAGCT(C > G)CGTTTAAAAA chr10: 100975021 0.6362,0.3638 0.70305332568807339,0.29694667431192660 Region score:0.54; TSS score:0.1; Unmatched score:0.51; Average GERP:-0.18896138613861369 GeneName:MIR608; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207551; TranscriptID:ENST00000384820; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MRPL43; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000055950; TranscriptID:ENST00000318325; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SEMA4G; CADD-Score:2; Consquence:intron; GeneID:ENSG00000095539; TranscriptID:ENST00000210633; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000344 28566273 NONHSAT124467.2 rs1182436 C N/A up to 26,676 european ancestry cases//up to 132,532 european ancestry controls; 14,545 european ancestry cases//38,994 european ancestry controls EFO_0001360 N/A Associate Type 2 diabetes rs1182436-C of NONHSAT124467.2 is significantly associated with the type 2 diabetes by using GWAS analysis in up to 26,676 european ancestry cases//up to 132,532 european ancestry controls; 14,545 european ancestry cases//38,994 european ancestry controls(p-value = 2E-8 ;OR = 1.08). 0.4 An Expanded Genome-Wide Association Study of Type 2 Diabetes in Europeans. genome-wide association analysis NONHSAT124467.2 lncRNA Type ii diabetes mellitus 0.33 GGCGTGGTGG(T > C)GCATGCCTTT chr7: 157235059 0.2674,0.7326 0.29642902650356778,0.70357097349643221 Region score:0.19; TSS score:0.09; Unmatched score:0.09; Average GERP:-0.08716831683168322 GeneName:UBE3C; CADD-Score:2; Consquence:intron; GeneID:ENSG00000009335; TranscriptID:ENST00000348165; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000345 26634245 NONHSAT174831.1 rs17607 A N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio rs17607-A of NONHSAT174831.1 is significantly associated with the post bronchodilator fev1/fvc ratio by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 4E-6 ;OR = 0.11). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT174831.1 lncRNA Pulmonary function measurement 0.33 GGTGCTTATT(G > A)CTTTCTGCAT chr17: 7581464 0.9836,0.01637 0.96869425331294597,0.03130574668705402 Region score:0.36; TSS score:0.48; Unmatched score:0.72; Average GERP:2.3463663366336633 GeneName:AC016876.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000233223; TranscriptID:ENST00000573187; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC016876.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000264772; TranscriptID:ENST00000581621; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CD68; CADD-Score:7; Consquence:missense; GeneID:ENSG00000129226; TranscriptID:ENST00000250092; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:EIF4A1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000161960; TranscriptID:ENST00000293831; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MPDU1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000129255; TranscriptID:ENST00000250124; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000090881; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SENP3-EIF4A1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000277957; TranscriptID:ENST00000614237; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORA67; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000277985; TranscriptID:ENST00000384423; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORD10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000238917; TranscriptID:ENST00000459579; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000346 25434007 MIR137 rs543885789 T Dominant 2,610 sz cases and 2,611 controls of european ancestry EFO_0000692 N/A Increasing risk Schizophrenia rs543885789-T of MIR137 and its dysfunction is significantly associated with the increasing risk of schizophrenia by using case-control analysis in 2,610 SZ cases and 2,611 controls of European ancestry. By using the disease cell lines or tissues, the interference and mutation of MIR137 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 A rare functional noncoding variant at the GWAS-implicated MIR137/MIR2682 locus might confer risk to schizophrenia and bipolar disorder. case-control analysis; Function hsa-mir-137 miRNA Schizophrenia 0.593 AAAGCTGCTA(A > G,T)GAAAATGGCT chr1: 98049983 N/A 0.99957791794087665,0.00000796381243628,0.00041411824668705 N/A GeneName:AC104453.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000285922; TranscriptID:ENST00000648602; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR137; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284202; TranscriptID:ENST00000385223; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR137HG; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000225206; TranscriptID:ENST00000634594; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR2682; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284247; TranscriptID:ENST00000580305; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000010436; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000347 28017375 NONHSAT207026.1 rs13219787 ? N/A up to 40,258 european ancestry individuals//16,128 african american individuals//up to 15,252 east asian ancestry individuals.; 16,389 european and african american individuals EFO_0004509 N/A Associate Hemoglobin levels rs13219787-? of NONHSAT207026.1 is significantly associated with the hemoglobin levels by using GWAS analysis in up to 40,258 european ancestry individuals//16,128 african american individuals//up to 15,252 east asian ancestry individuals.; 16,389 european and african american individuals(p-value = 1E-8 ;OR = ?). 0.4 Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis. genome-wide association analysis NONHSAT207026.1 lncRNA Hemoglobin measurement 0.33 AGCCACTCAC(G > A,T)CTTCCAGAGA chr6: 27893892 N/A 0.95713079765545361,0.04268603465851172,0.00018316768603465 Region score:0.31; TSS score:0.46; Unmatched score:0.82; Average GERP:-0.40989306930693065 GeneName:HIST1H2AM; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000278677; TranscriptID:ENST00000359611; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HIST1H2BO; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000274641; TranscriptID:ENST00000616182; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HIST1H3J; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000197153; TranscriptID:ENST00000359303; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000195186; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RNU7-26P; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000238610; TranscriptID:ENST00000458980; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000348 27089181 NONHSAT204426.1 rs6882046 A N/A 170,911 european ancestry individuals EFO_0007660 N/A Associate Neuroticism rs6882046-A of NONHSAT204426.1 is significantly associated with the neuroticism by using GWAS analysis in 170,911 european ancestry individuals(p-value = 2E-7 ;OR = 0.019748092). 0.4 Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses. genome-wide association analysis NONHSAT204426.1 lncRNA Neuroticism measurement 0.33 ACAAGATCCA(A > G)AGTCACAGCA chr5: 88673046 0.6182,0.3818 0.68976968654434250,0.31023031345565749 Region score:0.38; TSS score:0.55; Unmatched score:0.91; Average GERP:2.309994059405941 GeneName:LINC00461; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000245526; TranscriptID:ENST00000505030; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MEF2C-AS2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000245864; TranscriptID:ENST00000510274; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000761582; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000349 21177773 NONHSAT149995.1 rs1532815 ? N/A 60 european ancestry lymphoblastoid cell lines//56 african american lymphoblastoid cell lines//60 han chinese american lymphoblastoid cell lines GO_1901554 N/A Associate Response to acetaminophen (hepatotoxicity) rs1532815-? of NONHSAT149995.1 is significantly associated with the response to acetaminophen (hepatotoxicity) by using GWAS analysis in 60 european ancestry lymphoblastoid cell lines//56 african american lymphoblastoid cell lines//60 han chinese american lymphoblastoid cell lines(p-value = 6E-7 ;OR = ?). 0.4 Acetaminophen-NAPQI hepatotoxicity: a cell line model system genome-wide association study. genome-wide association analysis NONHSAT149995.1 lncRNA Response to acetaminophen 0.33 TATATAATAC(T > A,C)TGAGGAGGCC chr1: 165210852 0.3315,0.6685,. 0.21790583588175331,0.77054663608562691,0.01154752803261977 Region score:0.32; TSS score:0.23; Unmatched score:0.68; Average GERP:-2.489227722772277 GeneName:AL390730.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000224702; TranscriptID:ENST00000457106; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LMX1A; CADD-Score:2; Consquence:intron; GeneID:ENSG00000162761; TranscriptID:ENST00000342310; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000350 27601451 TSNAX-DISC1 rs149133391 C Dominant 16,415 Hispanic/Latino individuals EFO_0006343 N/A increasing risk chronic periodontitis rs149133391-C of TSNAX-DISC1 and its dysfunction is significantly associated with the increasing risk of Chronic periodontitis by using genome-wide association analysis in 16,415 Hispanic/Latino individuals 0.4 Chronic Periodontitis Genome-wide Association Study in the Hispanic Community Health Study / Study of Latinos. genome-wide association analysis TSNAX-DISC1 lncRNA Chronic periodontitis 0.33 CCACCTGCCT(T > C)GGCCTCCCAA chr1: 231580785 0.9888,0.01118 0.99044342507645259,0.00955657492354740 Region score:0.36; TSS score:0.06; Unmatched score:0.01; Average GERP:0.038212871287128705 GeneName:TSNAX-DISC1; CADD-Score:2; Consquence:intron,NMD; GeneID:ENSG00000270106; TranscriptID:ENST00000602956; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000351 20452100 NONHSAT124992.2 rs11782819 ? N/A 185 european ancestry low nft individuals//114 european ancestry high nft individuals EFO_0000249 N/A Associate Alzheimer's disease rs11782819-? of NONHSAT124992.2 is significantly associated with the alzheimer's disease by using GWAS analysis in 185 european ancestry low nft individuals//114 european ancestry high nft individuals(p-value = 3E-6 ;OR = ?). 0.4 Alzheimer disease pathology in cognitively healthy elderly: a genome-wide study. genome-wide association analysis NONHSAT124992.2 lncRNA Alzheimers disease 0.33 GGGAGGTGCA(T > C,G)GAAGGATGTC chr8: 10477271 0.4329,0.5671,. 0.46436193934760448,0.53556638634046890,0.00007167431192660 Region score:0.35; TSS score:0.12; Unmatched score:0.59; Average GERP:-0.5781055445544555 GeneName:AC104964.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253678; TranscriptID:ENST00000649853; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC104964.4; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000285237; TranscriptID:ENST00000642833; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LINCR-0001; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253641; TranscriptID:ENST00000517732; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RNU6-729P; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207128; TranscriptID:ENST00000384399; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000352 24925725 NONHSAT147157.2 rs2236178 ? N/A 588 european ancestry cases//1,412 european ancestry controls EFO_0005761 N/A Associate Lupus nephritis in systemic lupus erythematosus rs2236178-? of NONHSAT147157.2 is significantly associated with the lupus nephritis in systemic lupus erythematosus by using GWAS analysis in 588 european ancestry cases//1,412 european ancestry controls(p-value = 5E-6 ;OR = 1.4706). 0.4 Lupus nephritis susceptibility loci in women with systemic lupus erythematosus. genome-wide association analysis NONHSAT147157.2 lncRNA Lupus nephritis 0.33 GGTGAGAAAA(T > C)GCCAGTCACA chr20: 21162172 0.3357,0.6643 0.34336773700305810,0.65663226299694189 Region score:0.36; TSS score:0.23; Unmatched score:0.68; Average GERP:3.965964356435645 GeneName:AL121759.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000228604; TranscriptID:ENST00000434043; AnnoType:UPSTREAM; mirSVR-Score:-0.7551; mirSVR-E:-20.51 | GeneName:KIZ-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000232712; TranscriptID:ENST00000616177; AnnoType:INTRONIC; mirSVR-Score:-0.7551; mirSVR-E:-20.51 | GeneName:KIZ; CADD-Score:7; Consquence:missense; GeneID:ENSG00000088970; TranscriptID:ENST00000619189; AnnoType:NON_SYNONYMOUS; mirSVR-Score:-0.7551; mirSVR-E:-20.51 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000135476; AnnoType:REGULATORY; mirSVR-Score:-0.7551; mirSVR-E:-20.51 | GeneName:RPS15AP1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000214535; TranscriptID:ENST00000457423; AnnoType:DOWNSTREAM; mirSVR-Score:-0.7551; mirSVR-E:-20.51 | NCRV0000000353 20585324 NONHSAT145732.2 rs4792394 C N/A 872 european//african american and other ancestry substance dependence cases//3,091 european//african american and other ancestry controls EFO_0004216 N/A Associate Conduct disorder (symptom count) rs4792394-C of NONHSAT145732.2 is significantly associated with the conduct disorder (symptom count) by using GWAS analysis in 872 european//african american and other ancestry substance dependence cases//3,091 european//african american and other ancestry controls(p-value = 9E-6 ;OR = 0.06). 0.4 Genome-wide association study of conduct disorder symptomatology. genome-wide association analysis NONHSAT145732.2 lncRNA Conduct disorder 0.33 TACCAAAACA(C > A,G)ACAATAAGCA chr17: 13781600 0.4485,0.5515,. 0.45994202344546381,0.54005001274209989,0.00000796381243628 Region score:0.23; TSS score:0.16; Unmatched score:0.05; Average GERP:-0.2685154663366337 GeneName:COX10-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000236088; TranscriptID:ENST00000423323; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000354 25187353 NONHSAT155152.1 rs17156371 A N/A 161 european ancestry cases//1,196 european ancestry clozapine-treated and untreated controls HP_0012235 N/A Associate Clozapine-induced agranulocytosis rs17156371-A of NONHSAT155152.1 is significantly associated with the clozapine-induced agranulocytosis by using GWAS analysis in 161 european ancestry cases//1,196 european ancestry clozapine-treated and untreated controls(p-value = 5E-6 ;OR = 2.1463). 0.4 Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles. genome-wide association analysis NONHSAT155152.1 lncRNA Drug-induced agranulocytosis 0.33 TTGAATTGAT(C > A)ATCGGGACCC chr10: 15171101 0.8912,0.1088 0.86299057084607543,0.13700942915392456 Region score:0.44; TSS score:0.31; Unmatched score:0.56; Average GERP:0.07270297029702973 GeneName:AL590365.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000228181; TranscriptID:ENST00000450788; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NMT2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000152465; TranscriptID:ENST00000378165; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000355 26007630 NONHSAT176810.1 rs57968458 A N/A 2,194 european ancestry multiple myeloma cases//251 european ancestry monoclonal gammopathy cases//294,390 european ancestry controls; 586 european ancestry multiple myeloma cases//2,111 european ancestry controls EFO_0000203 N/A Associate Multiple myeloma and monoclonal gammopathy rs57968458-A of NONHSAT176810.1 is significantly associated with the multiple myeloma and monoclonal gammopathy by using GWAS analysis in 2,194 european ancestry multiple myeloma cases//251 european ancestry monoclonal gammopathy cases//294,390 european ancestry controls; 586 european ancestry multiple myeloma cases//2,111 european ancestry controls(p-value = 3E-10 ;OR = 0.33). 0.4 Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma. genome-wide association analysis NONHSAT176810.1 lncRNA Monoclonal gammopathy 0.33 TTGGTTGAGC(G > A)CTGCTGGTGT chr17: 16916785 0.7786,0.2214 0.84057243883792048,0.15942756116207951 Region score:0.29; TSS score:0.27; Unmatched score:0.2; Average GERP:-0.1503762376237623 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000282609; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000356 22703881 NONHSAT196718.1 rs710446 C N/A 9,240 european ancestry individuals; 2611 european ancestry individuals EFO_0000378 N/A Associate Activated partial thromboplastin time rs710446-C of NONHSAT196718.1 is significantly associated with the activated partial thromboplastin time by using GWAS analysis in 9,240 european ancestry individuals; 2611 european ancestry individuals(p-value = 2E-203 ;OR = 1.18). 0.4 Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease. genome-wide association analysis NONHSAT196718.1 lncRNA Coronary artery disease 0.451 CCAGCTCCCA(T > C)ACAGAGTGAT chr3: 186742138 0.5847,0.4153 0.56200624362895005,0.43799375637104994 Region score:0.28; TSS score:0.33; Unmatched score:0.46; Average GERP:1.466730693069307 GeneName:AC068631.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000197099; TranscriptID:ENST00000627551; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:KNG1; CADD-Score:7; Consquence:missense; GeneID:ENSG00000113889; TranscriptID:ENST00000644859; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000356 20303064 NONHSAT196718.1 rs710446 G N/A 1,431 european ancestry individuals EFO_0000378 N/A Associate Activated partial thromboplastin time rs710446-G of NONHSAT196718.1 is significantly associated with the activated partial thromboplastin time by using GWAS analysis in 1,431 european ancestry individuals(p-value = 1E-21 ;OR = 0.36). 0.4 Common variants of large effect in F12, KNG1, and HRG are associated with activated partial thromboplastin time. genome-wide association analysis NONHSAT196718.1 lncRNA Coronary artery disease 0.451 CCAGCTCCCA(T > C)ACAGAGTGAT chr3: 186742138 0.5847,0.4153 0.56200624362895005,0.43799375637104994 Region score:0.28; TSS score:0.33; Unmatched score:0.46; Average GERP:1.466730693069307 GeneName:AC068631.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000197099; TranscriptID:ENST00000627551; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:KNG1; CADD-Score:7; Consquence:missense; GeneID:ENSG00000113889; TranscriptID:ENST00000644859; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000357 23726366 NONHSAT179797.1 rs12721054 G N/A 7,601 african american individuals//3,335 hispanic individuals; 7,138 african american individuals EFO_0000319 N/A Associate Triglycerides rs12721054-G of NONHSAT179797.1 is significantly associated with the triglycerides by using GWAS analysis in 7,601 african american individuals//3,335 hispanic individuals; 7,138 african american individuals(p-value = 3E-19 ;OR = 0.101). 0.4 Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations. genome-wide association analysis NONHSAT179797.1 lncRNA Cardiovascular disease 0.33 TGCCACCAAT(A > G)AAAATCCTAC chr19: 44919330 0.9607,0.03934 0.96298419979612640,0.03701580020387359 Region score:0.49; TSS score:0.78; Unmatched score:0.86; Average GERP:-1.18556702970297 GeneName:AC011481.3; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000280087; TranscriptID:ENST00000623895; AnnoType:DOWNSTREAM; mirSVR-Score:-1.0452; mirSVR-E:-12.67 | GeneName:APOC1; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000130208; TranscriptID:ENST00000588750; AnnoType:3PRIME_UTR; mirSVR-Score:-1.0452; mirSVR-E:-12.67 | NCRV0000000358 22885922 NONHSAT186947.1 rs243088 T N/A 6,377 european ancestry male cases//5,794 european ancestry female cases//22,243 european ancestry male controls//34,619 european ancestry female controls; 12,938 european ancestry male cases//8,553 european ancestry female cases//904 pakistani ancestry male cases//274 pakistani ancestry female cases//30,273 european ancestry male controls//25,374 european ancestry female controls//2,088 pakistani ancestry male controls//384 pakistani ancestry female controls EFO_0001360 N/A Associate Type 2 diabetes rs243088-T of NONHSAT186947.1 is significantly associated with the type 2 diabetes by using GWAS analysis in 6,377 european ancestry male cases//5,794 european ancestry female cases//22,243 european ancestry male controls//34,619 european ancestry female controls; 12,938 european ancestry male cases//8,553 european ancestry female cases//904 pakistani ancestry male cases//274 pakistani ancestry female cases//30,273 european ancestry male controls//25,374 european ancestry female controls//2,088 pakistani ancestry male controls//384 pakistani ancestry female controls(p-value = 2E-8 ;OR = 1.07). 0.4 Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes. genome-wide association analysis NONHSAT186947.1 lncRNA Type ii diabetes mellitus 0.451 TCCGAGAAGA(A > T)ACCAAGGAAA chr2: 60341610 0.4539,0.5461 0.48775165647298674,0.51224834352701325 Region score:0.33; TSS score:0.14; Unmatched score:0.03; Average GERP:-0.5164172277227722 GeneName:MIR4432HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000228590; TranscriptID:ENST00000647917; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000358 24509480 NONHSAT186947.1 rs243088 T N/A 12,171 european ancestry cases//56,862 european ancestry controls//6,952 east asian ancestry cases//11,865 east asian ancestry controls//5,561 south asian ancestry cases//14,458 south asian ancestry controls//1,804 mexican ancestry cases//779 mexican ancestry controls; 21,491 european ancestry cases//55,647 european ancestry controls EFO_0001360 N/A Associate Type 2 diabetes rs243088-T of NONHSAT186947.1 is significantly associated with the type 2 diabetes by using GWAS analysis in 12,171 european ancestry cases//56,862 european ancestry controls//6,952 east asian ancestry cases//11,865 east asian ancestry controls//5,561 south asian ancestry cases//14,458 south asian ancestry controls//1,804 mexican ancestry cases//779 mexican ancestry controls; 21,491 european ancestry cases//55,647 european ancestry controls(p-value = 3E-6 ;OR = 1.09). 0.4 Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. genome-wide association analysis NONHSAT186947.1 lncRNA Type ii diabetes mellitus 0.451 TCCGAGAAGA(A > T)ACCAAGGAAA chr2: 60341610 0.4539,0.5461 0.48775165647298674,0.51224834352701325 Region score:0.33; TSS score:0.14; Unmatched score:0.03; Average GERP:-0.5164172277227722 GeneName:MIR4432HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000228590; TranscriptID:ENST00000647917; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000359 28448500 NONHSAT105398.2 rs3088050 ? N/A 2,518 african american women//85,730 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//54,792 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men EFO_0007789 joint analysis main effects and physical activity interaction Associate Waist circumference adjusted for bmi (joint analysis main effects and physical activity interaction) rs3088050-? of NONHSAT105398.2 is significantly associated with the waist circumference adjusted for bmi (joint analysis main effects and physical activity interaction) by using GWAS analysis in 2,518 african american women//85,730 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//54,792 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men(p-value = 1E-10 ;OR = ?). 0.4 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. genome-wide association analysis NONHSAT105398.2 lncRNA Bmi-adjusted waist circumference 0.451 CCACAACCTC(G > A)GAAGAAGTGT chr5: 177299634 0.7708,0.2292 0.81246018093781855,0.18753981906218144 Region score:0.51; TSS score:0.66; Unmatched score:0.67; Average GERP:0.7617475247524753 GeneName:MXD3; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000213347; TranscriptID:ENST00000509339; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0795; mirSVR-E:-13.10 | GeneName:NSD1; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000165671; TranscriptID:ENST00000439151; AnnoType:3PRIME_UTR; mirSVR-Score:-0.0795; mirSVR-E:-13.10 | GeneName:PRELID1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000169230; TranscriptID:ENST00000303204; AnnoType:UPSTREAM; mirSVR-Score:-0.0795; mirSVR-E:-13.10 | GeneName:RAB24; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000169228; TranscriptID:ENST00000303251; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0795; mirSVR-E:-13.10 | NCRV0000000359 28448500 NONHSAT105398.2 rs3088050 A N/A 2,518 african american women//85,730 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//54,792 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men EFO_0007789 joint analysis main effects and physical activity interaction Associate Waist circumference adjusted for bmi in active individuals rs3088050-A of NONHSAT105398.2 is significantly associated with the waist circumference adjusted for bmi in active individuals by using GWAS analysis in 2,518 african american women//85,730 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//54,792 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men(p-value = 9E-8 ;OR = 0.039). 0.4 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. genome-wide association analysis NONHSAT105398.2 lncRNA Bmi-adjusted waist circumference 0.451 CCACAACCTC(G > A)GAAGAAGTGT chr5: 177299634 0.7708,0.2292 0.81246018093781855,0.18753981906218144 Region score:0.51; TSS score:0.66; Unmatched score:0.67; Average GERP:0.7617475247524753 GeneName:MXD3; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000213347; TranscriptID:ENST00000509339; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0795; mirSVR-E:-13.10 | GeneName:NSD1; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000165671; TranscriptID:ENST00000439151; AnnoType:3PRIME_UTR; mirSVR-Score:-0.0795; mirSVR-E:-13.10 | GeneName:PRELID1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000169230; TranscriptID:ENST00000303204; AnnoType:UPSTREAM; mirSVR-Score:-0.0795; mirSVR-E:-13.10 | GeneName:RAB24; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000169228; TranscriptID:ENST00000303251; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0795; mirSVR-E:-13.10 | NCRV0000000360 28739976 NONHSAT217903.1 rs7826238 T N/A 150,134 european ancestry individuals; 87,359 european ancestry individuals//140,886 european and unknown ancestry individuals EFO_0000319 N/A Associate Systolic blood pressure rs7826238-T of NONHSAT217903.1 is significantly associated with the systolic blood pressure by using GWAS analysis in 150,134 european ancestry individuals; 87,359 european ancestry individuals//140,886 european and unknown ancestry individuals(p-value = 3E-15 ;OR = 0.335). 0.4 Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.LID - HYPERTENSIONAHA.117.09438 [pii]LID - 10.1161/HYPERTENSIONAHA.117.09438 [doi]AB - Elevated blood pressure genome-wide association analysis NONHSAT217903.1 lncRNA Cardiovascular disease 0.33 TGGAGCTCCA(G > A,T)TTTTCTGAGA chr8: 8529585 0.4249,.,0.5751 0.51339513251783893,0.00007167431192660,0.48653319317023445 Region score:0.35; TSS score:0.26; Unmatched score:0.09; Average GERP:-0.46075544554455455 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000361 26554236 pre-miR-196a2 rs11614913 C Dominant 123 participants, including 65 AF patients were confirmed with electrocardiogram (ECG) or dynamic electrocardiography and 58 normal individuals EFO_0000275 N/A increasing risk atrial fibrillation rs11614913-C of hsa-mir-196a-2 and its dysfunction is significantly associated with the increasing risk of Atrial fibrillation by using case-control analysis in 123 participants, including 65 AF patients were confirmed with electrocardiogram (ECG) or dynamic electrocardiography and 58 normal individuals 0.4 A Functional Single-Nucleotide Polymorphism in Pre-microRNA-196a2 is Associated with Atrial Fibrillation in Han Chinese. case-control analysis hsa-mir-196a-2 miRNA Atrial fibrillation 0.33 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000362 27863252 NONHSAT156778.1 rs4332427 G N/A 171,529 european ancestry individuals EFO_0005192 N/A Associate Red cell distribution width rs4332427-G of NONHSAT156778.1 is significantly associated with the red cell distribution width by using GWAS analysis in 171,529 european ancestry individuals(p-value = 9E-70 ;OR = 0.07325614). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT156778.1 lncRNA Red blood cell distribution width 0.33 GTGGCCAGAG(A > G)TAAGAACTTG chr10: 24569461 0.8083,0.1917 0.79742450305810397,0.20257549694189602 Region score:0.51; TSS score:0.48; Unmatched score:0.57; Average GERP:-0.2884257425742577 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000363 27863252 NONHSAT182281.1 rs34020101 T N/A 172,378 european ancestry individuals EFO_0007991 N/A Associate Eosinophil percentage of white cells rs34020101-T of NONHSAT182281.1 is significantly associated with the eosinophil percentage of white cells by using GWAS analysis in 172,378 european ancestry individuals(p-value = 1E-27 ;OR = 0.03962069). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT182281.1 lncRNA Eosinophil percentage of leukocytes 0.33 TAAATATTAG(TA > T)AAAAAAAAAA chr2: 102435014 0.5375,0.4625 0.49025229357798165,0.50974770642201834 N/A GeneName:AC007278.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000234389; TranscriptID:ENST00000450893; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC007278.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000236525; TranscriptID:ENST00000436582; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:IL18RAP; CADD-Score:2; Consquence:intron; GeneID:ENSG00000115607; TranscriptID:ENST00000264260; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR4772; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000264764; TranscriptID:ENST00000581495; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000364 26634245 NONHSAT075862.2 rs113142635 C N/A 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio in copd rs113142635-C of NONHSAT075862.2 is significantly associated with the post bronchodilator fev1/fvc ratio in copd by using GWAS analysis in 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases(p-value = 5E-6 ;OR = 0.165). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT075862.2 lncRNA Pulmonary function measurement 0.33 AGTGAATTTC(T > C)TGAGAACAAA chr2: 181406316 0.9974,0.002596 0.99605791284403669,0.00394208715596330 Region score:0.27; TSS score:0.15; Unmatched score:0.07; Average GERP:-0.2842158415841583 GeneName:LINC01934; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000234663; TranscriptID:ENST00000435411; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000630098; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000365 21700265 NONHSAT151288.1 rs1043879 ? N/A 1,979 european ancestry individuals; 5,628 european ancestry individuals EFO_0004304 N/A Associate Erythrocyte sedimentation rate rs1043879-? of NONHSAT151288.1 is significantly associated with the erythrocyte sedimentation rate by using GWAS analysis in 1,979 european ancestry individuals; 5,628 european ancestry individuals(p-value = 2E-9 ;OR = 0.09). 0.4 Complement receptor 1 gene variants are associated with erythrocyte sedimentation rate. genome-wide association analysis NONHSAT151288.1 lncRNA Blood sedimentation 0.33 GGTAGGTTTT(T > C)CATTGGGATT chr1: 25243590 0.8922,0.1078 0.82536952089704383,0.17463047910295616 Region score:0.44; TSS score:0.49; Unmatched score:0.7; Average GERP:2.254564356435643 GeneName:AL031432.3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000272432; TranscriptID:ENST00000607698; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AL031432.5; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000284657; TranscriptID:ENST00000641059; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RSRP1; CADD-Score:7; Consquence:missense; GeneID:ENSG00000117616; TranscriptID:ENST00000243189; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000366 26634245 NONHSAT202771.1 rs188526878 T N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio rs188526878-T of NONHSAT202771.1 is significantly associated with the post bronchodilator fev1/fvc ratio by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 2E-6 ;OR = 0.69). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT202771.1 lncRNA Pulmonary function measurement 0.33 TTATAAATTA(C > T)CCAATCTCAG chr5: 76748557 N/A 0.99996018093781855,0.00003981906218144 Region score:0.32; TSS score:0.1; Unmatched score:0.01; Average GERP:0.08659900990099008 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000367 20935630 NONHSAT168677.1 rs10150332 C N/A up to 123,865 european ancestry individuals; up to 125,931 european ancestry individuals EFO_0001073 N/A Associate Body mass index rs10150332-C of NONHSAT168677.1 is significantly associated with the body mass index by using GWAS analysis in up to 123,865 european ancestry individuals; up to 125,931 european ancestry individuals(p-value = 3E-11 ;OR = 0.13). 0.4 Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. genome-wide association analysis NONHSAT168677.1 lncRNA Obesity 0.33 AGCAGCAGAA(T > C)ATATTTGCAG chr14: 79470621 0.7941,0.2059 0.74619329765545361,0.25380670234454638 Region score:0.33; TSS score:0.32; Unmatched score:0.08; Average GERP:-1.119472823529412 GeneName:NRXN3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000021645; TranscriptID:ENST00000635466; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000368 23262343 miRNA-146a rs2910164 C N/a 357 tle patients and 543 healthy controls EFO_0000773 N/A No significance for risk Temporal lobe epilepsy rs2910164 -C of miRNA-146a and its dysfunction is not significantly associated with temporal lobe epilepsy by using case-control analysis in 357 TLE patients and 543 healthy controls. -0.4 Relationship between genetic variant in pre-microRNA-146a and genetic predisposition to temporal lobe epilepsy: a case-control study. case-control analysis hsa-mir-146a miRNA Temporal lobe epilepsy -0.33 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 N/A 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000369 20018961 NONHSAT210400.1 rs602875 A N/A 706 han chinese ancestry cases//1,225 han chinese ancestry controls; 3,254 chinese ancestry cases//5,955 chinese ancestry controls EFO_0001054 N/A Associate Leprosy rs602875-A of NONHSAT210400.1 is significantly associated with the leprosy by using GWAS analysis in 706 han chinese ancestry cases//1,225 han chinese ancestry controls; 3,254 chinese ancestry cases//5,955 chinese ancestry controls(p-value = 5E-27 ;OR = 1.61). 0.4 Genomewide association study of leprosy. genome-wide association analysis NONHSAT210400.1 lncRNA Leprosy 0.33 TTCTCAATAC(A > G)CCTTCAAAAT chr6: 32605852 0.7276,0.2724 0.72148158766564729,0.27851841233435270 N/A GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000370 23028342 NONHSAT189084.1 rs6027506 A N/A up to 2,916 european ancestry type 1 diabetes cases with nephropathy//3,315 european ancestry type 1 diabetes cases without nephropathy; up to 1,493 european ancestry type 1 diabetes cases with nephropathy//3,191 european ancestry type 1 diabetes cases without nephropathy EFO_0004996 N/A Associate Type 1 diabetes nephropathy rs6027506-A of NONHSAT189084.1 is significantly associated with the type 1 diabetes nephropathy by using GWAS analysis in up to 2,916 european ancestry type 1 diabetes cases with nephropathy//3,315 european ancestry type 1 diabetes cases without nephropathy; up to 1,493 european ancestry type 1 diabetes cases with nephropathy//3,191 european ancestry type 1 diabetes cases without nephropathy(p-value = 5E-6 ;OR = 1.22). 0.4 New susceptibility loci associated with kidney disease in type 1 diabetes. genome-wide association analysis NONHSAT189084.1 lncRNA Type 1 diabetes nephropathy 0.33 TGCAATCATA(A > G)CAAGCAAAAT chr20: 60321657 0.643,0.357 0.61029880224260958,0.38970119775739041 Region score:0.28; TSS score:0.26; Unmatched score:0.39; Average GERP:-1.7406346534653465 GeneName:MIR646HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000228340; TranscriptID:ENST00000432910; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000371 27863252 NONHSAT206588.1 rs55713716 A N/A 171,771 european ancestry individuals EFO_0009389 N/A Associate Sum eosinophil basophil counts rs55713716-A of NONHSAT206588.1 is significantly associated with the sum eosinophil basophil counts by using GWAS analysis in 171,771 european ancestry individuals(p-value = 3E-21 ;OR = 0.0474782). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT206588.1 lncRNA Sum of eosinophil and basophil counts 0.33 TGTGGTGGAC(G > A,T)TACACCATGG chr6: 376329 0.4297,0.5703,. 0.38993214831804281,0.60999617737003058,0.00007167431192660 Region score:0.37; TSS score:0.26; Unmatched score:0.2; Average GERP:-0.9792594059405939 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000372 28240269 NONHSAT159596.1 rs11568819 A N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0008227 N/A Associate Blood protein levels rs11568819-A of NONHSAT159596.1 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 6E-14 ;OR = 0.6681). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. genome-wide association analysis NONHSAT159596.1 lncRNA Matrilysin measurement 0.33 GTATTACATC(G > A)TTATTGGCAG chr11: 102530902 0.9605,0.03954 0.94809983435270132,0.05190016564729867 Region score:0.8; TSS score:0.77; Unmatched score:0.95; Average GERP:1.4042168316831687 GeneName:MMP7; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000137673; TranscriptID:ENST00000260227; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000440575; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000373 28621612 ANRIL rs1333048 ? N/a 125 bph patients and 220 normal age-matched subjects EFO_0000284 N/A Increasing risk Benign prostate hyperplasia rs1333048-? of ANRIL and its dysfunction is significantly associated with the increasing risk of benign prostate hyperplasia by using case-control analysis in 125 BPH patients and 220 normal age-matched subjects . 0.4 Association of ANRIL gene polymorphisms with prostate cancer and benign prostatic hyperplasia in an Iranian population. case-control analysis ANRIL lncRNA Benign prostatic hyperplasia 0.33 GGAGATGTTT(A > C)AATGTCGAAT chr9: 22125348 0.5579,0.4421 0.55785709734964322,0.44214290265035677 Region score:0.23; TSS score:0.38; Unmatched score:0.26; Average GERP:-0.30606930693069295 GeneName:CDKN2B-AS1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000240498; TranscriptID:ENST00000428597; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000877606; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000374 25019275 linc01080 rs7990916 C Dominant 106 sad patients, 67 amci patients, and 179 healthy controls in a han chinese population EFO_0000249 N/A No significance for risk Alzheimer's disease rs7990916-C of linc01080 and its dysfunction is not significantly associated with Alzheimer's disease by using case-control analysis in 106 SAD patients, 67 aMCI patients, and 179 healthy controls in a Han Chinese population . -0.4 Lack of association of a genetic variant in the long intergenic noncoding RNA (linc01080) with Alzheimer's disease and amnestic mild cognitive impairment in Han Chinese. case-control analysis linc01080 lncRNA Alzheimers disease -0.33 TTCATTCTTA(T > A,C)CAAGTTGACA chr13: 80065389 0.2804,.,0.7196 0.33645514780835881,0.00190335117227319,0.66164150101936799 Region score:0.33; TSS score:0.04; Unmatched score:0.01; Average GERP:0.1519261386138614 GeneName:AL158064.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000284196; TranscriptID:ENST00000640346; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000375 28017375 NONHSAT184699.1 rs13027161 ? N/A up to 29,946 european ancestry individuals//up to 6150 african american individuals//15,074 east asian individuals.; 16,389 individuals of european and african american ancestry. EFO_0004526 N/A Associate Mean corpuscular volume rs13027161-? of NONHSAT184699.1 is significantly associated with the mean corpuscular volume by using GWAS analysis in up to 29,946 european ancestry individuals//up to 6150 african american individuals//15,074 east asian individuals.; 16,389 individuals of european and african american ancestry.(p-value = 3E-12 ;OR = ?). 0.4 Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis. genome-wide association analysis NONHSAT184699.1 lncRNA Mean corpuscular volume 0.33 CATATATCAG(T > C)AGGTAGGTAA chr2: 60380593 0.8333,0.1667 0.72694476299694189,0.27305523700305810 Region score:0.26; TSS score:0.2; Unmatched score:0.27; Average GERP:0.02298041237113399 GeneName:MIR4432HG; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000228590; TranscriptID:ENST00000441598; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RNU1-32P; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000200807; TranscriptID:ENST00000363937; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000376 25608926 NONHSAT165052.1 rs7299099 T N/A 2,332 european ancestry cases and 5,233 european ancestry controls; 764 european ancestry cases and 2,256 european ancestry controls EFO_0004192 N/A Associate Alopecia areata rs7299099-T of NONHSAT165052.1 is significantly associated with the alopecia areata by using GWAS analysis in 2,332 european ancestry cases and 5,233 european ancestry controls; 764 european ancestry cases and 2,256 european ancestry controls(p-value = 5E-6 ;OR = 1.19065). 0.4 Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci. genome-wide association analysis NONHSAT165052.1 lncRNA Alopecia areata 0.33 GGCTCGGCCA(T > C)GTCTCCCGCG chr12: 94148083 0.4081,0.5919 0.44470725025484199,0.55529274974515800 Region score:0.39; TSS score:0.61; Unmatched score:0.95; Average GERP:0.6801108910891088 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000055730; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PLXNC1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000136040; TranscriptID:ENST00000258526; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000377 23563607 NONHSAT168677.1 rs2370983 A N/A 93,015 european ancestry overweight individuals//32,858 european ancestry class i obese individuals//9,889 european ancestry class ii obese individuals//2,896 european ancestry class iii obese individuals//up to 65,840 european ancestry controls; 65,332 european ancestry overweight individuals//22,373 european ancestry class i obese individuals//5,476 european ancestry class ii obese individuals//1,162 european ancestry class iii obese individuals//up to 39,294 european ancestry controls EFO_0001073 N/A Associate Obesity rs2370983-A of NONHSAT168677.1 is significantly associated with the obesity by using GWAS analysis in 93,015 european ancestry overweight individuals//32,858 european ancestry class i obese individuals//9,889 european ancestry class ii obese individuals//2,896 european ancestry class iii obese individuals//up to 65,840 european ancestry controls; 65,332 european ancestry overweight individuals//22,373 european ancestry class i obese individuals//5,476 european ancestry class ii obese individuals//1,162 european ancestry class iii obese individuals//up to 39,294 european ancestry controls(p-value = 3E-9 ;OR = 1.04). 0.4 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. genome-wide association analysis NONHSAT168677.1 lncRNA Obesity 0.33 TCATCTCCAT(G > A)AATCACTAAT chr14: 79437033 0.3189,0.6811 0.29417526758409785,0.70582473241590214 Region score:0.32; TSS score:0.19; Unmatched score:0.1; Average GERP:-0.7065485148514852 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000503308; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NRXN3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000021645; TranscriptID:ENST00000635466; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000378 17903301 NONHSAT198379.1 rs1379659 ? N/A up to 1,238 european ancestry individuals EFO_0000319 N/A Associate Echocardiographic traits rs1379659-? of NONHSAT198379.1 is significantly associated with the echocardiographic traits by using GWAS analysis in up to 1,238 european ancestry individuals(p-value = 1E-7 ;OR = ?). 0.4 Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study. genome-wide association analysis NONHSAT198379.1 lncRNA Cardiovascular disease 0.33 CTTCTTGACC(G > A)TGTGGGACTA chr4: 20619060 0.117,0.883 0.13575911060142711,0.86424088939857288 Region score:0.52; TSS score:0.73; Unmatched score:0.79; Average GERP:1.2165439603960402 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000719078; AnnoType:REGULATORY; mirSVR-Score:-0.8352; mirSVR-E:-16.69 | GeneName:SLIT2; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000145147; TranscriptID:ENST00000504154; AnnoType:3PRIME_UTR; mirSVR-Score:-0.8352; mirSVR-E:-16.69 | NCRV0000000379 28135244 NONHSAT115068.2 rs34931156 ? N/A 140,886 european ancestry individuals; 190,318 european ancestry individuals EFO_0006336 N/A Associate Diastolic blood pressure rs34931156-? of NONHSAT115068.2 is significantly associated with the diastolic blood pressure by using GWAS analysis in 140,886 european ancestry individuals; 190,318 european ancestry individuals(p-value = 9E-6 ;OR = 0.1575). 0.4 Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk. genome-wide association analysis NONHSAT115068.2 lncRNA Diastolic blood pressure 0.33 AATTTCACAT(TA > T)AAAAGGTTTT chr6: 135193691 0.8942,0.1058 0.86494170489296636,0.13505829510703363 N/A GeneName:MYB-AS1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000236703; TranscriptID:ENST00000455534; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYB; CADD-Score:2; Consquence:intron; GeneID:ENSG00000118513; TranscriptID:ENST00000341911; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000380 27863252 NONHSAT204675.1 rs3812049 G N/A 171,529 european ancestry individuals EFO_0005192 N/A Associate Red cell distribution width rs3812049-G of NONHSAT204675.1 is significantly associated with the red cell distribution width by using GWAS analysis in 171,529 european ancestry individuals(p-value = 5E-274 ;OR = 0.1432103). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT204675.1 lncRNA Red blood cell distribution width 0.33 TTCACCAAAG(C > A,G,T)GGGGGGAAAA chr5: 128083158 0.2388,.,0.7612,. 0.22860919979612640,0.00050968399592252,0.76357830020387359,0.00730281600407747 Region score:0.47; TSS score:0.46; Unmatched score:0.97; Average GERP:0.5216738613861385 GeneName:LINC01184; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000245937; TranscriptID:ENST00000501702; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000186556; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SLC12A2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000064651; TranscriptID:ENST00000262461; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000381 26831199 NONHSAT071625.2 rs13538 A N/A 118,448 european ancestry individuals; 36,433 european ancestry individuals EFO_0003884 N/A Associate Glomerular filtration rate in non diabetics (creatinine) rs13538 -A of NONHSAT071625.2 is significantly associated with the glomerular filtration rate in non diabetics (creatinine) by using GWAS analysis in 118,448 european ancestry individuals; 36,433 european ancestry individuals(p-value = 3E-16 ;OR = 0.0092). 0.4 Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function. genome-wide association analysis NONHSAT071625.2 lncRNA Chronic kidney disease 0.451 ACTGTCCACA(A > G)AGAGATGAAA chr2: 73641201 0.7304,0.2696 0.69170489296636085,0.30829510703363914 Region score:0.18; TSS score:0.47; Unmatched score:0.73; Average GERP:-0.02917128712871282 GeneName:ALMS1P1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000163016; TranscriptID:ENST00000450720; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000610056; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NAT8; CADD-Score:7; Consquence:missense; GeneID:ENSG00000144035; TranscriptID:ENST00000272425; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000381 20383146 NONHSAT071625.2 rs13538 G N/A up to 67,093 european ancestry individuals; up to 22,982 european ancestry individuals EFO_0003884 N/A Associate Chronic kidney disease rs13538-G of NONHSAT071625.2 is significantly associated with the chronic kidney disease by using GWAS analysis in up to 67,093 european ancestry individuals; up to 22,982 european ancestry individuals(p-value = 5E-14 ;OR = 0.01). 0.4 New loci associated with kidney function and chronic kidney disease. genome-wide association analysis NONHSAT071625.2 lncRNA Chronic kidney disease 0.451 ACTGTCCACA(A > G)AGAGATGAAA chr2: 73641201 0.7304,0.2696 0.69170489296636085,0.30829510703363914 Region score:0.18; TSS score:0.47; Unmatched score:0.73; Average GERP:-0.02917128712871282 GeneName:ALMS1P1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000163016; TranscriptID:ENST00000450720; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000610056; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NAT8; CADD-Score:7; Consquence:missense; GeneID:ENSG00000144035; TranscriptID:ENST00000272425; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000382 27863252 NONHSAT061038.2 rs10409243 T N/A 170,702 european ancestry individuals EFO_0004833 N/A Associate Neutrophil count rs10409243-T of NONHSAT061038.2 is significantly associated with the neutrophil count by using GWAS analysis in 170,702 european ancestry individuals(p-value = 4E-9 ;OR = 0.02207318). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT061038.2 lncRNA Neutrophil count 0.33 AAAGAAGACA(C > A,G,T)AGCGGGGTTC chr19: 10222312 0.5797,.,.,0.4203 0.50259620285423037,0.00057339449541284,0.00312181447502548,0.49370858817533129 Region score:0.4; TSS score:0.68; Unmatched score:0.57; Average GERP:0.10211980198019809 GeneName:DNMT1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000130816; TranscriptID:ENST00000592342; AnnoType:INTRONIC; mirSVR-Score:-0.8233; mirSVR-E:-4.84 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000584242; AnnoType:REGULATORY; mirSVR-Score:-0.8233; mirSVR-E:-4.84 | GeneName:S1PR2; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000267534; TranscriptID:ENST00000646641; AnnoType:3PRIME_UTR; mirSVR-Score:-0.8233; mirSVR-E:-4.84 | NCRV0000000383 27694959 NONHSAT163268.1 rs9669179 G N/A 984 european ancestry individuals; 530 european ancestry individuals EFO_0007874 N/A Associate Gut microbiota (functional units) rs9669179-G of NONHSAT163268.1 is significantly associated with the gut microbiota (functional units) by using GWAS analysis in 984 european ancestry individuals; 530 european ancestry individuals(p-value = 3E-8 ;OR = 5.5538855). 0.4 The effect of host genetics on the gut microbiome. genome-wide association analysis NONHSAT163268.1 lncRNA Gut microbiome measurement 0.33 TGTTTTTAGG(C > A,G)AGAATCAACG chr12: 8244933 0.7334,.,0.2666 0.74307944699286442,0.00002389143730886,0.25689666156982670 Region score:0.42; TSS score:0.31; Unmatched score:0.51; Average GERP:0.037683168316831654 GeneName:FAM86FP; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000164845; TranscriptID:ENST00000338711; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LINC02449; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000215241; TranscriptID:ENST00000536034; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000384 21983787 NONHSAT192354.1 rs6001027 ? N/A 2,804 european ancestry cases//7,618 european ancestry controls; 5,551 european ancestry cases//7,449 european ancestry controls EFO_0000756 N/A Associate Melanoma rs6001027-? of NONHSAT192354.1 is significantly associated with the melanoma by using GWAS analysis in 2,804 european ancestry cases//7,618 european ancestry controls; 5,551 european ancestry cases//7,449 european ancestry controls(p-value = 2E-6 ;OR = 1.18). 0.4 Genome-wide association study identifies three new melanoma susceptibility loci. genome-wide association analysis NONHSAT192354.1 lncRNA Melanoma 0.33 TACATTTGAA(A > G)AGTTAATGTC chr22: 38149612 0.5827,0.4173 0.60554440621814475,0.39445559378185524 Region score:0.17; TSS score:0.16; Unmatched score:0.09; Average GERP:-0.0359950495049504 GeneName:AL022322.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000279080; TranscriptID:ENST00000624072; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PLA2G6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000184381; TranscriptID:ENST00000332509; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000385 28604730 NONHSAT206996.1 rs66488313 T N/A 29,266 european ancestry cases//56,450 european ancestry controls EFO_0001071 N/A Associate Lung cancer rs66488313-T of NONHSAT206996.1 is significantly associated with the lung cancer by using GWAS analysis in 29,266 european ancestry cases//56,450 european ancestry controls(p-value = 2E-8 ;OR = 1.1313485). 0.4 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. genome-wide association analysis NONHSAT206996.1 lncRNA Lung cancer 0.33 AAATTAAGTT(G > T)GAAAATATGA chr6: 26631340 0.9818,0.01817 0.95052083333333333,0.04947916666666666 Region score:0.38; TSS score:0.17; Unmatched score:0.51; Average GERP:-0.49289562500000034 GeneName:ZNF322; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000181315; TranscriptID:ENST00000622479; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000386 27863252 NONHSAT000786.2 rs79412885 A N/A 169,545 european ancestry individuals EFO_0007997 N/A Associate Granulocyte percentage of myeloid white cells rs79412885-A of NONHSAT000786.2 is significantly associated with the granulocyte percentage of myeloid white cells by using GWAS analysis in 169,545 european ancestry individuals(p-value = 7E-13 ;OR = 0.04948829). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT000786.2 lncRNA Granulocyte percentage of myeloid white cells 0.33 AGATAGAGGA(G > A)GGAAGAAAGA chr1: 9181780 0.9814,0.01857 0.95722636340468909,0.04277363659531090 Region score:0.47; TSS score:0.45; Unmatched score:0.91; Average GERP:-0.379910693069307 GeneName:LNCTAM34A; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000234546; TranscriptID:ENST00000412639; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR34AHG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000228526; TranscriptID:ENST00000635405; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000001086; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000346646; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000387 26634245 NONHSAT219494.1 rs12352894 C N/A 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases EFO_0003892 N/A Associate Post bronchodilator fev1 in copd rs12352894-C of NONHSAT219494.1 is significantly associated with the post bronchodilator fev1 in copd by using GWAS analysis in 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases(p-value = 3E-6 ;OR = 0.284). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT219494.1 lncRNA Pulmonary function measurement 0.33 CTGGCAGAGT(C > T)GTGTACCCAG chr9: 38197387 0.8674,0.1326 0.87054822884811416,0.12945177115188583 Region score:0.29; TSS score:0.25; Unmatched score:0.26; Average GERP:-0.3243653465346535 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000880135; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000388 22778062 SNORD114-15 rs80087345 T N/a N/a function N/A Not significant changes in the structure Function rs80087345-T of SNORD114-15 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD114-15 snoRNA Function -0.049 CCAATCCTGG(A > G,T)TCGATGATGA chr14: 100972673 0.9846,.,0.01538 0.99281664118246687,.,0.00718335881753312 Region score:0.45; TSS score:0.22; Unmatched score:0.53; Average GERP:-1.3253564356435643 GeneName:MEG8; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000225746; TranscriptID:ENST00000638012; AnnoType:INTRONIC; mirSVR-Score:-0.4156; mirSVR-E:-15.99 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000073219; AnnoType:REGULATORY; mirSVR-Score:-0.4156; mirSVR-E:-15.99 | GeneName:RF00181; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000201500; TranscriptID:ENST00000364630; AnnoType:UPSTREAM; mirSVR-Score:-0.4156; mirSVR-E:-15.99 | GeneName:SNORD114-11; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000200608; TranscriptID:ENST00000363738; AnnoType:DOWNSTREAM; mirSVR-Score:-0.4156; mirSVR-E:-15.99 | GeneName:SNORD114-12; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000202270; TranscriptID:ENST00000365400; AnnoType:DOWNSTREAM; mirSVR-Score:-0.4156; mirSVR-E:-15.99 | GeneName:SNORD114-13; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000201247; TranscriptID:ENST00000364377; AnnoType:DOWNSTREAM; mirSVR-Score:-0.4156; mirSVR-E:-15.99 | GeneName:SNORD114-14; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000199593; TranscriptID:ENST00000362723; AnnoType:DOWNSTREAM; mirSVR-Score:-0.4156; mirSVR-E:-15.99 | GeneName:SNORD114-15; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000201557; TranscriptID:ENST00000364687; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.4156; mirSVR-E:-15.99 | GeneName:SNORD114-16; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000199914; TranscriptID:ENST00000363044; AnnoType:UPSTREAM; mirSVR-Score:-0.4156; mirSVR-E:-15.99 | GeneName:SNORD114-17; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000201569; TranscriptID:ENST00000364699; AnnoType:UPSTREAM; mirSVR-Score:-0.4156; mirSVR-E:-15.99 | GeneName:SNORD114-18; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000202142; TranscriptID:ENST00000365272; AnnoType:UPSTREAM; mirSVR-Score:-0.4156; mirSVR-E:-15.99 | GeneName:SNORD114-19; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000199942; TranscriptID:ENST00000363072; AnnoType:UPSTREAM; mirSVR-Score:-0.4156; mirSVR-E:-15.99 | NCRV0000000389 29146194 MALAT1 rs7927113 A N/a 487 breast cancer? patients and 489 cancer-free controls in chinese han population EFO_0000305 N/A No significance for risk Breast cancer rs7927113-A of MALAT1 and its dysfunction is not significantly associated with breast cancer by using case-control analysis in 487 breast cancer? patients and 489 cancer-free controls in Chinese Han population. -0.4 Association analyses of genetic variants in long non-coding RNA MALAT1 with breast cancer susceptibility and mRNA expression of MALAT1 in Chinese Han population. case-control analysis MALAT1 lncRNA Breast cancer -0.33 AGACCAGCAT(G > A)CCAGTGTGCC chr11: 65500727 0.9561,0.04393 0.96139143730886850,0.03860856269113149 Region score:0.55; TSS score:0.48; Unmatched score:0.79; Average GERP:0.11192178217821795 GeneName:AP000769.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000270117; TranscriptID:ENST00000602344; AnnoType:UPSTREAM; mirSVR-Score:-0.0008; mirSVR-E:-22.55 | GeneName:MALAT1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000251562; TranscriptID:ENST00000534336; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0008; mirSVR-E:-22.55 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000432700; AnnoType:REGULATORY; mirSVR-Score:-0.0008; mirSVR-E:-22.55 | GeneName:RF01871; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000278217; TranscriptID:ENST00000618249; AnnoType:UPSTREAM; mirSVR-Score:-0.0008; mirSVR-E:-22.55 | NCRV0000000390 27863252 NONHSAT162404.1 rs1800973 A N/A 170,721 european ancestry individuals EFO_0005091 N/A Associate Monocyte count rs1800973-A of NONHSAT162404.1 is significantly associated with the monocyte count by using GWAS analysis in 170,721 european ancestry individuals(p-value = 1E-53 ;OR = 0.1145819). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT162404.1 lncRNA Monocyte count 0.33 GATGGCAAAA(C > A)CCCAGGAGCA chr12: 69350234 0.9854,0.01458 0.95797496177370030,0.04202503822629969 Region score:0.32; TSS score:0.4; Unmatched score:0.47; Average GERP:1.9191316831683143 GeneName:AC020656.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000257764; TranscriptID:ENST00000548900; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LYZ; CADD-Score:7; Consquence:missense; GeneID:ENSG00000090382; TranscriptID:ENST00000261267; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000053735; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000391 20686565 NONHSAT067101.2 rs492602 G N/A 100,184 european ancestry individuals EFO_0000319 N/A Associate Cholesterol//total rs492602-G of NONHSAT067101.2 is significantly associated with the cholesterol//total by using GWAS analysis in 100,184 european ancestry individuals(p-value = 2E-10 ;OR = 1.27). 0.4 Biological, clinical and population relevance of 95 loci for blood lipids. genome-wide association analysis NONHSAT067101.2 lncRNA Cardiovascular disease 0.451 CGATCAATGC(A > G)ATAGGCCGCC chr19: 48703160 0.6783,0.3217 0.56164787206931702,0.43835212793068297 Region score:0.2; TSS score:0.23; Unmatched score:0.34; Average GERP:-0.02174257425742565 GeneName:FUT2; CADD-Score:5; Consquence:synonymous; GeneID:ENSG00000176920; TranscriptID:ENST00000425340; AnnoType:SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000391 24097068 NONHSAT067101.2 rs492602 G N/A 94,595 european ancestry individuals; 93,982 european ancestry individuals EFO_0000319 N/A Associate Cholesterol//total rs492602-G of NONHSAT067101.2 is significantly associated with the cholesterol//total by using GWAS analysis in 94,595 european ancestry individuals; 93,982 european ancestry individuals(p-value = 1E-16 ;OR = 0.031). 0.4 Discovery and refinement of loci associated with lipid levels. genome-wide association analysis NONHSAT067101.2 lncRNA Cardiovascular disease 0.451 CGATCAATGC(A > G)ATAGGCCGCC chr19: 48703160 0.6783,0.3217 0.56164787206931702,0.43835212793068297 Region score:0.2; TSS score:0.23; Unmatched score:0.34; Average GERP:-0.02174257425742565 GeneName:FUT2; CADD-Score:5; Consquence:synonymous; GeneID:ENSG00000176920; TranscriptID:ENST00000425340; AnnoType:SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000392 25616667 NONHSAT059290.2 rs9807334 ? N/A 2,232 european ancestry ocb positive individuals//275 european ancestry ocb negative individuals//439 ocb positive individuals//80 ocb negative individuals; 3,026 ocb positive individuals//452 ocb negative individuals EFO_0003885 N/A Associate Oligoclonal band status in multiple sclerosis rs9807334-? of NONHSAT059290.2 is significantly associated with the oligoclonal band status in multiple sclerosis by using GWAS analysis in 2,232 european ancestry ocb positive individuals//275 european ancestry ocb negative individuals//439 ocb positive individuals//80 ocb negative individuals; 3,026 ocb positive individuals//452 ocb negative individuals(p-value = 8E-7 ;OR = 1.52). 0.4 Genetic variants are major determinants of CSF antibody levels in multiple sclerosis. genome-wide association analysis NONHSAT059290.2 lncRNA Multiple sclerosis 0.33 TATCAAGAGA(G > A)TGATAAAGCA chr18: 50997791 0.9746,0.02536 0.93945113404689092,0.06054886595310907 Region score:0.36; TSS score:0.09; Unmatched score:0.01; Average GERP:0.016346534653465403 GeneName:AC091551.1; CADD-Score:2; Consquence:intron,NMD; GeneID:ENSG00000267699; TranscriptID:ENST00000590722; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000393 20231535 NONHSAT208215.1 rs9390459 ? N/A 17,596 european ancestry individuals; up to 7,604 european ancestry individuals EFO_0004629 N/A Associate Vwf levels rs9390459-? of NONHSAT208215.1 is significantly associated with the vwf levels by using GWAS analysis in 17,596 european ancestry individuals; up to 7,604 european ancestry individuals(p-value = 1E-22 ;OR = 4.8). 0.4 Novel associations of multiple genetic loci with plasma levels of factor VII, factor VIII, and von Willebrand factor: The CHARGE (Cohorts for Heart and Aging Research in Genome Epidemiology) Consortium. genome-wide association analysis NONHSAT208215.1 lncRNA Von willebrand factor measurement 0.33 CCCCTTGTCT(A > G)TGGGTTGGAA chr6: 147359223 0.4958,0.5042 0.45451070336391437,0.54548929663608562 Region score:0.32; TSS score:0.25; Unmatched score:0.53; Average GERP:2.3623910891089115 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000808740; AnnoType:REGULATORY; mirSVR-Score:-0.0193; mirSVR-E:-17.88 | GeneName:STXBP5; CADD-Score:5; Consquence:synonymous; GeneID:ENSG00000164506; TranscriptID:ENST00000321680; AnnoType:SYNONYMOUS; mirSVR-Score:-0.0193; mirSVR-E:-17.88 | NCRV0000000394 27863252 NONHSAT026062.2 rs10466905 A N/A 164,339 european ancestry individuals EFO_0007985 N/A Associate Plateletcrit rs10466905-A of NONHSAT026062.2 is significantly associated with the plateletcrit by using GWAS analysis in 164,339 european ancestry individuals(p-value = 1E-11 ;OR = 0.03162751). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT026062.2 lncRNA Plateletcrit 0.33 TTTTAACTTA(G > A)TCACCTCTTT chr12: 6393666 0.8299,0.1701 0.80079319571865443,0.19920680428134556 Region score:0.23; TSS score:0.09; Unmatched score:0.28; Average GERP:-0.08750792079207921 GeneName:AC005840.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000256433; TranscriptID:ENST00000541888; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LTBR; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000111321; TranscriptID:ENST00000228918; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000048298; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000395 28218896 miRNA-146a rs2910164 C dominant 342 Chronic Prostatitis patients with erectile dysfunction and 363 Chronic Prostatitis patients without erectile dysfunction EFO_0003830 N/A decreasing risk prostatitis rs2910164-C of hsa-mir-146a and its dysfunction is significantly associated with the decreasing risk of Prostatitis by using case-control analysis in 342 Chronic Prostatitis patients with erectile dysfunction and 363 Chronic Prostatitis patients without erectile dysfunction 0.9 A Variant in the Precursor of MicroRNA-146a is Responsible for Development of Erectile Dysfunction in Patients with Chronic Prostatitis via Targeting NOS1. case-control analysis hsa-mir-146a miRNA Prostatitis 0.593 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 0 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000396 28240269 NONHSAT220344.1 rs10858300 T N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0008134 N/A Associate Blood protein levels rs10858300-T of NONHSAT220344.1 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 6E-17 ;OR = 0.4086). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. genome-wide association analysis NONHSAT220344.1 lncRNA Ficolin-1 measurement 0.33 ACGATGCACT(C > T)AGAGCGTCCT chr9: 134950654 0.7278,0.2722 0.76179440621814475,0.23820559378185524 Region score:0.35; TSS score:0.28; Unmatched score:0.12; Average GERP:-0.615599801980198 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000397 22286173 NONHSAT017198.2 rs2280543 T N/A 1,383 japanese ancestry cases//5,484 japanese ancestry controls; 1,048 japanese ancestry cases//7,212 japanese ancestry controls EFO_0003870 N/A Associate Intracranial aneurysm rs2280543-T of NONHSAT017198.2 is significantly associated with the intracranial aneurysm by using GWAS analysis in 1,383 japanese ancestry cases//5,484 japanese ancestry controls; 1,048 japanese ancestry cases//7,212 japanese ancestry controls(p-value = 3E-6 ;OR = 1.251). 0.4 Genome-wide association study for intracranial aneurysm in the Japanese population identifies three candidate susceptible loci and a functional genetic variant at EDNRA. genome-wide association analysis NONHSAT017198.2 lncRNA Brain aneurysm 0.33 GATGAGTCAA(C > T)CTTGCTGGGT chr11: 203788 0.9191,0.08087 0.94848209734964322,0.05151790265035677 Region score:0.36; TSS score:0.28; Unmatched score:0.55; Average GERP:-2.2230401980198016 GeneName:AC069287.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000254559; TranscriptID:ENST00000526963; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.2008; mirSVR-E:-13.22 | GeneName:BET1L; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000177951; TranscriptID:ENST00000382762; AnnoType:3PRIME_UTR; mirSVR-Score:-0.2008; mirSVR-E:-13.22 | GeneName:ODF3; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000177947; TranscriptID:ENST00000325113; AnnoType:DOWNSTREAM; mirSVR-Score:-0.2008; mirSVR-E:-13.22 | GeneName:RIC8A; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000177963; TranscriptID:ENST00000325207; AnnoType:UPSTREAM; mirSVR-Score:-0.2008; mirSVR-E:-13.22 | NCRV0000000398 26634245 NONHSAT169870.1 rs116335274 G N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio rs116335274-G of NONHSAT169870.1 is significantly associated with the post bronchodilator fev1/fvc ratio by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 3E-6 ;OR = 0.286). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT169870.1 lncRNA Pulmonary function measurement 0.33 TATCTGGGAG(A > G)ATTTGAGTAT chr14: 28145182 0.999,0.0009984 0.99970533893985728,0.00029466106014271 Region score:0.43; TSS score:0.44; Unmatched score:0.21; Average GERP:1.25069089108911 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000399 28334935 NONHSAT108210.2 rs1799945 C N/A 12,589 hispanic/latino individuals EFO_0006333 N/A Associate Iron status biomarkers (transferrin saturation) rs1799945-C of NONHSAT108210.2 is significantly associated with the iron status biomarkers (transferrin saturation) by using GWAS analysis in 12,589 hispanic/latino individuals(p-value = 2E-38 ;OR = 0.274). 0.4 Genome-wide association study of iron traits and relation to diabetes in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL): potential genomic intersection of iron and glucose regulation? genome-wide association analysis NONHSAT108210.2 lncRNA Transferrin saturation measurement 0.33 GTTCTATGAT(C > G)ATGAGAGTCG chr6: 26090951 0.9269,0.07308 0.89884365443425076,0.10115634556574923 Region score:0.3; TSS score:0.25; Unmatched score:0.49; Average GERP:0.6539455445544557 GeneName:HFE; CADD-Score:7; Consquence:missense; GeneID:ENSG00000010704; TranscriptID:ENST00000357618; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000400 25524916 NONHSAT196746.1 rs523079 ? N/A up to 4,176 mexican american individuals EFO_0001360 N/A Associate Glucose homeostasis traits rs523079-? of NONHSAT196746.1 is significantly associated with the glucose homeostasis traits by using GWAS analysis in up to 4,176 mexican american individuals(p-value = 2E-7 ;OR = 0.25). 0.4 Genetic Variants Associated With Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium. genome-wide association analysis NONHSAT196746.1 lncRNA Type ii diabetes mellitus 0.33 ATGCCCCTGT(C > T)CCGCTGTCAG chr3: 187898074 0.8379,0.1621 0.85915201325178389,0.14084798674821610 Region score:0.3; TSS score:0.17; Unmatched score:0.02; Average GERP:-0.5054 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000401 27863252 NONHSAT092490.2 rs2608073 T N/A 171,529 european ancestry individuals EFO_0005192 N/A Associate Red cell distribution width rs2608073-T of NONHSAT092490.2 is significantly associated with the red cell distribution width by using GWAS analysis in 171,529 european ancestry individuals(p-value = 1E-9 ;OR = 0.04035898). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT092490.2 lncRNA Red blood cell distribution width 0.33 CCAGGCCAGG(C > T)GATTATCTGC chr3: 142934670 0.9692,0.03075 0.94161729102956167,0.05838270897043832 Region score:0.28; TSS score:0.44; Unmatched score:0.41; Average GERP:-0.015957821782178278 GeneName:AC021074.3; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000243818; TranscriptID:ENST00000476385; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000402 27863252 NONHSAT222167.1 rs726657 T N/A 172,275 european ancestry individuals EFO_0004842 N/A Associate Eosinophil counts rs726657-T of NONHSAT222167.1 is significantly associated with the eosinophil counts by using GWAS analysis in 172,275 european ancestry individuals(p-value = 3E-11 ;OR = 0.02429508). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT222167.1 lncRNA Eosinophil count 0.33 GTCATATATG(C > T)AGGGTTGACC chr9: 114934056 0.521,0.479 0.50746209225280326,0.49253790774719673 Region score:0.26; TSS score:0.5; Unmatched score:0.45; Average GERP:-0.17866732673267316 GeneName:DEC1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000173077; TranscriptID:ENST00000649565; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TNFSF8; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000106952; TranscriptID:ENST00000223795; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000403 23342264 miR-142 chr17:56408613 C Dominant 56 dlbcl cases EFO_0000403 N/A Increasing risk Diffuse large b-cell lymphoma chr17:56408613-C of miR-142 and its dysfunction is significantly associated with the increasing risk of diffuse large B-cell lymphoma by using analysis of sequence variation in 56 DLBCL cases. 0.4 MicroRNA-142 is mutated in about 20% of diffuse large B-cell lymphoma. analysis of sequence variation hsa-mir-142 miRNA Diffuse large b-cell lymphoma 0.33 N/A N/A N/A N/A N/A N/A NCRV0000000404 25350695 NONHSAT179794.1 rs445925 A N/A 18,596 european ancestry individuals; 23,279 european ancestry individuals EFO_0007804 N/A Associate Response to statins (ldl cholesterol change) rs445925-A of NONHSAT179794.1 is significantly associated with the response to statins (ldl cholesterol change) by using GWAS analysis in 18,596 european ancestry individuals; 23,279 european ancestry individuals(p-value = 9E-29 ;OR = 0.051). 0.4 Pharmacogenetic meta-analysis of genome-wide association studies of LDL cholesterol response to statins. genome-wide association analysis NONHSAT179794.1 lncRNA Ldl cholesterol change measurement 0.33 GAAGGACAAA(G > A,C)AGCCCCCTTT chr19: 44912383 0.8502,0.1498,. 0.84554982161060142,0.15443425076452599,0.00001592762487257 Region score:0.32; TSS score:0.46; Unmatched score:0.37; Average GERP:-0.3876799999999996 GeneName:AC011481.3; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000280087; TranscriptID:ENST00000623895; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:APOC1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000130208; TranscriptID:ENST00000588750; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:APOE; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000130203; TranscriptID:ENST00000252486; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000405 22001757 NONHSAT067101.2 rs516246 T N/A up to 52,350 european ancestry individuals//up to 8,739 indian asian ancestry individuals EFO_0001421 N/A Associate Liver enzyme levels (gamma-glutamyl transferase) rs516246-T of NONHSAT067101.2 is significantly associated with the liver enzyme levels (gamma-glutamyl transferase) by using GWAS analysis in up to 52,350 european ancestry individuals//up to 8,739 indian asian ancestry individuals(p-value = 8E-10 ;OR = 2.3). 0.4 Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. genome-wide association analysis NONHSAT067101.2 lncRNA Liver disease 0.33 CCCGGGCCTC(C > T)ATCTCCCAGC chr19: 48702915 0.6793,0.3207 0.56168769113149847,0.43831230886850152 Region score:0.17; TSS score:0.18; Unmatched score:0.15; Average GERP:-1.6955256435643564 GeneName:FUT2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000176920; TranscriptID:ENST00000425340; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000406 26891255 NONHSAT113779.2 rs293526 T N/A 275 korean ancestry cases//2,369 korean ancestry controls; 242 korean ancestry cases//1,066 korean ancestry controls EFO_0000384 N/A Associate Crohn's disease rs293526-T of NONHSAT113779.2 is significantly associated with the crohn's disease by using GWAS analysis in 275 korean ancestry cases//2,369 korean ancestry controls; 242 korean ancestry cases//1,066 korean ancestry controls(p-value = 2E-11 ;OR = 2.1276596). 0.4 HLA-C*01 is a Risk Factor for Crohn's Disease. genome-wide association analysis NONHSAT113779.2 lncRNA Crohn's disease 0.33 GACTGTCCTA(C > T)CACATCAGAC chr6: 82938337 0.3149,0.6851 0.32723305300713557,0.67276694699286442 Region score:0.23; TSS score:0.23; Unmatched score:0.43; Average GERP:-0.7136584158415843 GeneName:AL355613.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000227215; TranscriptID:ENST00000451856; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:UBE3D; CADD-Score:2; Consquence:intron; GeneID:ENSG00000118420; TranscriptID:ENST00000369747; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000407 21102462 NONHSAT044219.2 rs3743266 C N/A 86,142 european ancestry female individuals//557 old order amish (founder/genetic isolate) female individuals//1,103 erasmus rucphen (founder/genetic isolate) female individuals; up to 12,813 european ancestry female individuals//910 val borbera (founder/genetic isolate) female individuals//348 orcadian (founder/genetic isolate) female individuals//338 friuli venezia giulia (founder/genetic isolate) female individuals//322 carlantino (founder/genetic/isolate) female individuals EFO_0004703 N/A Associate Menarche (age at onset) rs3743266-C of NONHSAT044219.2 is significantly associated with the menarche (age at onset) by using GWAS analysis in 86,142 european ancestry female individuals//557 old order amish (founder/genetic isolate) female individuals//1,103 erasmus rucphen (founder/genetic isolate) female individuals; up to 12,813 european ancestry female individuals//910 val borbera (founder/genetic isolate) female individuals//348 orcadian (founder/genetic isolate) female individuals//338 friuli venezia giulia (founder/genetic isolate) female individuals//322 carlantino (founder/genetic/isolate) female individuals(p-value = 8E-7 ;OR = 2.0). 0.4 Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. genome-wide association analysis NONHSAT044219.2 lncRNA Age at menarche 0.451 TGGATAAATA(T > C)TGCAGTGCAT chr15: 60489314 0.7454,0.2546 0.68331103465851172,0.31668896534148827 Region score:0.56; TSS score:0.83; Unmatched score:0.75; Average GERP:3.246396039603959 GeneName:RORA-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000245534; TranscriptID:ENST00000558140; AnnoType:INTRONIC; mirSVR-Score:-0.0407; mirSVR-E:-11.46 | GeneName:RORA; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000069667; TranscriptID:ENST00000335670; AnnoType:3PRIME_UTR; mirSVR-Score:-0.0407; mirSVR-E:-11.46 | NCRV0000000407 25231870 NONHSAT044219.2 rs3743266 T N/A up to 182,413 european ancestry females EFO_0004703 N/A Associate Menarche (age at onset) rs3743266-T of NONHSAT044219.2 is significantly associated with the menarche (age at onset) by using GWAS analysis in up to 182,413 european ancestry females(p-value = 2E-13 ;OR = 0.04). 0.4 Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. genome-wide association analysis NONHSAT044219.2 lncRNA Age at menarche 0.451 TGGATAAATA(T > C)TGCAGTGCAT chr15: 60489314 0.7454,0.2546 0.68331103465851172,0.31668896534148827 Region score:0.56; TSS score:0.83; Unmatched score:0.75; Average GERP:3.246396039603959 GeneName:RORA-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000245534; TranscriptID:ENST00000558140; AnnoType:INTRONIC; mirSVR-Score:-0.0407; mirSVR-E:-11.46 | GeneName:RORA; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000069667; TranscriptID:ENST00000335670; AnnoType:3PRIME_UTR; mirSVR-Score:-0.0407; mirSVR-E:-11.46 | NCRV0000000408 23551011 NONHSAT082305.2 rs2839440 ? N/A 21 afro-caribbean cases//1,010 afro-caribbean controls//50 european ancestry cases//1,202 european ancestry controls//62 hispanic cases//658 hispanic controls EFO_0000668 N/A Associate Preeclampsia rs2839440-? of NONHSAT082305.2 is significantly associated with the preeclampsia by using GWAS analysis in 21 afro-caribbean cases//1,010 afro-caribbean controls//50 european ancestry cases//1,202 european ancestry controls//62 hispanic cases//658 hispanic controls(p-value = 1E-6 ;OR = 5.31). 0.4 Genome-wide association study of pre-eclampsia detects novel maternal single nucleotide polymorphisms and copy-number variants in subsets of the Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study cohort. genome-wide association analysis NONHSAT082305.2 lncRNA Preeclampsia 0.33 AGTTTCCCAA(C > T)GGGTTCAGTA chr21: 42023389 0.8169,0.1831 0.83001242354740061,0.16998757645259938 Region score:0.3; TSS score:0.48; Unmatched score:0.48; Average GERP:-0.22763960396039606 GeneName:ZNF295-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000237232; TranscriptID:ENST00000412906; AnnoType:INTRONIC; mirSVR-Score:-0.4187; mirSVR-E:-15.38 | NCRV0000000409 23251661 NONHSAT169602.1 rs17124955 G N/A 815 hispanic children from 263 families EFO_0004326 N/A Associate Obesity-related traits rs17124955-G of NONHSAT169602.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 9E-6 ;OR = 0.05). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. genome-wide association analysis NONHSAT169602.1 lncRNA Heart rate 0.33 AAGAAGTTTG(A > G)AATTTTTGCT chr14: 88906407 0.8778,0.1222 0.90624203618756371,0.09375796381243628 Region score:0.36; TSS score:0.1; Unmatched score:0.01; Average GERP:0.2183920792079207 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000410 27863252 NONHSAT184466.1 rs711244 T N/A 164,454 european ancestry individuals EFO_0004584 N/A Associate Mean platelet volume rs711244-T of NONHSAT184466.1 is significantly associated with the mean platelet volume by using GWAS analysis in 164,454 european ancestry individuals(p-value = 8E-22 ;OR = 0.03503109). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT184466.1 lncRNA Mean platelet volume 0.33 AGCCTGATTC(C > T)TTCTGACCCT chr2: 36841285 0.5677,0.4323 0.59505606523955147,0.40494393476044852 Region score:0.36; TSS score:0.19; Unmatched score:0.04; Average GERP:0.19095940594059405 GeneName:AC007382.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000279519; TranscriptID:ENST00000624376; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:STRN; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000115808; TranscriptID:ENST00000263918; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000411 28346443 NONHSAT086659.2 rs2235573 G N/A 12,469 european ancestry cases//18,190 european ancestry controls. EFO_0005543 N/A Associate Glioma rs2235573-G of NONHSAT086659.2 is significantly associated with the glioma by using GWAS analysis in 12,469 european ancestry cases//18,190 european ancestry controls.(p-value = 9E-7 ;OR = 1.09). 0.4 Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors. genome-wide association analysis NONHSAT086659.2 lncRNA Glioma 0.33 AGAGCTCCAG(G > A)AGGCGCGTGG chr22: 38081923 0.5647,0.4353 0.54237544597349643,0.45762455402650356 Region score:0.19; TSS score:0.37; Unmatched score:0.84; Average GERP:1.7560990099009899 GeneName:BAIAP2L2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000128298; TranscriptID:ENST00000381669; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SLC16A8; CADD-Score:5; Consquence:synonymous; GeneID:ENSG00000100156; TranscriptID:ENST00000320521; AnnoType:SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000412 27863252 NONHSAT152168.1 rs17613339 T N/A 170,494 european ancestry individuals EFO_0007989 N/A Associate Monocyte percentage of white cells rs17613339-T of NONHSAT152168.1 is significantly associated with the monocyte percentage of white cells by using GWAS analysis in 170,494 european ancestry individuals(p-value = 3E-10 ;OR = 0.03378121). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT152168.1 lncRNA Monocypte percentage of leukocytes 0.33 ATGCCCATCA(C > T)GCTGCTTGTG chr1: 117596918 0.8818,0.1182 0.89531568552497451,0.10468431447502548 Region score:0.34; TSS score:0.35; Unmatched score:0.53; Average GERP:-1.2642111881188123 GeneName:AL157902.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000236866; TranscriptID:ENST00000440801; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000413 27863252 NONHSAT207279.1 rs16895831 T N/A 170,494 european ancestry individuals EFO_0007989 N/A Associate Monocyte percentage of white cells rs16895831-T of NONHSAT207279.1 is significantly associated with the monocyte percentage of white cells by using GWAS analysis in 170,494 european ancestry individuals(p-value = 3E-10 ;OR = 0.02809162). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT207279.1 lncRNA Monocypte percentage of leukocytes 0.33 TGGCTGCCGG(C > T)TGTGGATTCC chr6: 42548053 0.8033,0.1967 0.79576803007135575,0.20423196992864424 Region score:0.39; TSS score:0.39; Unmatched score:0.52; Average GERP:0.009751485148514826 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000790835; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000414 22685421 NONHSAT182034.1 rs1137 C N/A 2,789 chinese ancestry individuals//2,155 malay ancestry individuals EFO_0004207 N/A Associate Myopia (pathological) rs1137-C of NONHSAT182034.1 is significantly associated with the myopia (pathological) by using GWAS analysis in 2,789 chinese ancestry individuals//2,155 malay ancestry individuals(p-value = 4E-6 ;OR = 0.12). 0.4 Genetic variants on chromosome 1q41 influence ocular axial length and high myopia. genome-wide association analysis NONHSAT182034.1 lncRNA Pathological myopia 0.33 TCCTCTGCCT(T > C)TTCTAGTCAT chr2: 74712049 0.5589,0.4411 0.44279593527013251,0.55720406472986748 Region score:0.33; TSS score:0.31; Unmatched score:0.17; Average GERP:-0.6686386138613861 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000415 25557604 miR-1908 rs174561 T N/a 17 cardiometabolic traits/diseases EFO_0001073 N/A Increasing risk Obesity rs174561-T of miR-1908 and its dysfunction is significantly associated with the increasing risk of obesity by using analysis of sequence variation in 17 cardiometabolic traits/diseases. 0.4 The association of common polymorphisms in miR-196a2 with waist to hip ratio and miR-1908 with serum lipid and glucose. analysis of sequence variation hsa-mir-1908 miRNA Obesity 0.33 GCCGCGGCAT(T > C)CCCGGCCCCA chr11: 61815236 0.7204,0.2796 0.74512614678899082,0.25487385321100917 Region score:0.53; TSS score:0.33; Unmatched score:0.95; Average GERP:-0.025723762376237712 GeneName:FADS1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000149485; TranscriptID:ENST00000350997; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:FADS2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000134824; TranscriptID:ENST00000257261; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR1908; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000284416; TranscriptID:ENST00000410394; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000040341; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000431584; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000416 19820697 NONHSAT176940.1 rs17609240 G N/A 4,627 european ancestry individuals; 9,316 european ancestry individuals EFO_0004308 N/A Associate Hematological parameters rs17609240-G of NONHSAT176940.1 is significantly associated with the hematological parameters by using GWAS analysis in 4,627 european ancestry individuals; 9,316 european ancestry individuals(p-value = 9E-9 ;OR = 0.02). 0.4 A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. genome-wide association analysis NONHSAT176940.1 lncRNA Leukocyte count 0.33 TGTCCCTTCC(T > A,G)CCAAGGAAAA chr17: 39954436 0.2742,.,0.7258 0.31105854994903160,0.00007963812436289,0.68886181192660550 Region score:0.37; TSS score:0.29; Unmatched score:0.29; Average GERP:-0.0175414851485149 GeneName:GSDMA; CADD-Score:2; Consquence:intron; GeneID:ENSG00000167914; TranscriptID:ENST00000635792; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000094009; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000417 20453841 NONHSAT115190.2 rs2230926 C N/A 2,303 japanese ancestry cases//3,380 japanese ancestry controls; 4,768 japanese ancestry cases//17,359 japanese ancestry controls EFO_0000685 N/A Associate Rheumatoid arthritis rs2230926-C of NONHSAT115190.2 is significantly associated with the rheumatoid arthritis by using GWAS analysis in 2,303 japanese ancestry cases//3,380 japanese ancestry controls; 4,768 japanese ancestry cases//17,359 japanese ancestry controls(p-value = 2E-6 ;OR = 1.31). 0.4 A regulatory variant in CCR6 is associated with rheumatoid arthritis susceptibility. genome-wide association analysis NONHSAT115190.2 lncRNA Rheumatoid arthritis 0.33 AAGGCGCTGT(T > C,G)CAGCACGCTC chr6: 137874929 0.8604,.,0.1396 0.86552306320081549,.,0.13447693679918450 Region score:0.29; TSS score:0.21; Unmatched score:0.57; Average GERP:3.5411920792079243 GeneName:TNFAIP3; CADD-Score:7; Consquence:missense; GeneID:ENSG00000118503; TranscriptID:ENST00000612899; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000418 26113018 miRNA133-A2 rs13040413 A N/a Blood sample from 205 patients EFO_0009167 N/A Higher warfarin dose Warfarin dosing variability rs13040413-A of miRNA133-A2 and its dysfunction is significantly associated with the warfarin dosing variability by using analysis of sequence variation in blood sample from 205 patients. 0.4 Could MicroRNA polymorphisms influence warfarin dosing? A pharmacogenetics study on mir133 genes. analysis of sequence variation hsa-mir-133a-2 miRNA Response to warfarin 0.33 CTTCACCGAC(G > A)TCGCTGTTCC chr20: 62564893 0.7572,0.2428 0.74067437563710499,0.25932562436289500 Region score:0.33; TSS score:0.21; Unmatched score:0.4; Average GERP:0.30947920792079203 GeneName:MIR1-1HG; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000174407; TranscriptID:ENST00000624914; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR133A2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284508; TranscriptID:ENST00000347538; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000657286; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000419 28928442 NONHSAT108813.2 rs148844907 A N/A 4,426 european ancestry cases//84,290 european ancestry controls EFO_0008407 N/A Associate Tuberculosis rs148844907-A of NONHSAT108813.2 is significantly associated with the tuberculosis by using GWAS analysis in 4,426 european ancestry cases//84,290 european ancestry controls(p-value = 2E-12 ;OR = 1.92). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. genome-wide association analysis NONHSAT108813.2 lncRNA Susceptibility to mycobacterium tuberculosis infection measurement 0.33 AACTAAGATG(T > A)CCTCAGAGAT chr6: 31660620 0.995,0.004992 0.99250605249745158,0.00749394750254841 Region score:0.56; TSS score:0.59; Unmatched score:0.9; Average GERP:0.7304123564356434 GeneName:APOM; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000204444; TranscriptID:ENST00000375916; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:C6orf47-AS1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000227198; TranscriptID:ENST00000422049; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:C6orf47; CADD-Score:3; Consquence:5_prime_UTR; GeneID:ENSG00000204439; TranscriptID:ENST00000375911; AnnoType:5PRIME_UTR; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CSNK2B; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000204435; TranscriptID:ENST00000375885; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GPANK1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000204438; TranscriptID:ENST00000375906; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000195576; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000787646; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF00019; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000201207; TranscriptID:ENST00000364337; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000420 20463881 NONHSAT176666.1 rs9894429 T N/A 5,951 european ancestry individuals; 3,543 european ancestry individuals EFO_0003949 N/A Associate Eye color traits rs9894429-T of NONHSAT176666.1 is significantly associated with the eye color traits by using GWAS analysis in 5,951 european ancestry individuals; 3,543 european ancestry individuals(p-value = 9E-14 ;OR = 0.12). 0.4 Digital quantification of human eye color highlights genetic association of three new loci. genome-wide association analysis NONHSAT176666.1 lncRNA Eye color 0.33 TCACTCCATC(C > A,T)GGGGACTGGA chr17: 81629785 0.3259,.,0.6741 0.41478720693170234,.,0.58521279306829765 Region score:0.61; TSS score:0.47; Unmatched score:0.61; Average GERP:2.122148514851486 GeneName:NPLOC4; CADD-Score:5; Consquence:synonymous; GeneID:ENSG00000182446; TranscriptID:ENST00000331134; AnnoType:SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000421 23568457 NONHSAT011465.2 rs10906233 C N/A 543 european ancestry female cases//1,116 european ancestry female controls EFO_0005203 N/A Associate Eating disorders rs10906233-C of NONHSAT011465.2 is significantly associated with the eating disorders by using GWAS analysis in 543 european ancestry female cases//1,116 european ancestry female controls(p-value = 4E-6 ;OR = 0.288). 0.4 Genetic variants associated with disordered eating. genome-wide association analysis NONHSAT011465.2 lncRNA Eating disorder 0.33 TTACCTACCC(C > T)GTACTCATCC chr10: 12833208 0.8067,0.1933 0.90147967635066258,0.09852032364933741 Region score:0.33; TSS score:0.63; Unmatched score:0.61; Average GERP:-0.6298792079207921 GeneName:CAMK1D; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000183049; TranscriptID:ENST00000619168; AnnoType:3PRIME_UTR; mirSVR-Score:-0.1923; mirSVR-E:-12.99 | NCRV0000000422 22949513 NONHSAT054368.2 rs72823592 G N/A 702 european ancestry genetic absence epilepsies cases//586 european ancestry juvenile myoclonic epilepsy cases//239 european ancestry other genetic generalized epilepsies cases//2,461 european ancestry controls; 347 european ancestry genetic absence epilepsies trios//166 european ancestry juvenile myoclonic epilepsy trios//91 european ancestry other genetic generalized epilepsies trios//385 european ancestry genetic absence epilepsies cases//382 european ancestry juvenile myoclonic epilepsy cases//122 european ancestry other genetic generalized epilepsies cases//up to 889 european ancestry controls EFO_0000474 N/A Associate Epilepsy (generalized) rs72823592-G of NONHSAT054368.2 is significantly associated with the epilepsy (generalized) by using GWAS analysis in 702 european ancestry genetic absence epilepsies cases//586 european ancestry juvenile myoclonic epilepsy cases//239 european ancestry other genetic generalized epilepsies cases//2,461 european ancestry controls; 347 european ancestry genetic absence epilepsies trios//166 european ancestry juvenile myoclonic epilepsy trios//91 european ancestry other genetic generalized epilepsies trios//385 european ancestry genetic absence epilepsies cases//382 european ancestry juvenile myoclonic epilepsy cases//122 european ancestry other genetic generalized epilepsies cases//up to 889 european ancestry controls(p-value = 9E-9 ;OR = 1.3). 0.4 Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32. genome-wide association analysis NONHSAT054368.2 lncRNA Epilepsy 0.33 GCCTGGAGTC(G > A,C)CAGGGGCAAG chr17: 48045642 0.8962,0.1038,. 0.83254491590214067,0.16743915647298674,0.00001592762487257 Region score:0.5; TSS score:0.5; Unmatched score:0.72; Average GERP:0.011687128712871345 GeneName:AC004477.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000263412; TranscriptID:ENST00000578660; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000557566; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NFE2L1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000082641; TranscriptID:ENST00000362042; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000423 28358873 NEAT1 rs573201231 G or T Dominant 278 pRCC patients EFO_0000640 N/A poor prognosis papillary renal cell carcinoma rs573201231-G or T of NEAT1 and its dysfunction is significantly associated with the poor prognosis of Papillary renal cell carcinoma by using analysis of sequence variation in 278 pRCC patients 0.4 Whole-genome analysis of papillary kidney cancer finds significant noncoding alterations. analysis of sequence variation NEAT1 lncRNA Papillary renal cell carcinoma 0.33 GTGTGTGTGT(A > G,T)TTTTTTTTTT chr11: 65432686 0 0.97614838175331294,0.01799025229357798,0.00586136595310907 - GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000264457; AnnoType:REGULATORY; mirSVR-Score:-0.0000; mirSVR-E:-3.78 | GeneName:NEAT1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000245532; TranscriptID:ENST00000501122; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0000; mirSVR-E:-3.78 | NCRV0000000424 27156151 miR-196a2 rs11614913 T N/a 354 korean women: 120 patients with rif and 234 healthy controls with at least one live birth and no history of pregnancy loss MP_0001728 N/A No significance for risk Recurrent implantation failure rs11614913-T of miR-196a2 and its dysfunction is not significantly associated with recurrent implantation failure by using case-control analysis in 354 Korean women: 120 patients with RIF and 234 healthy controls with at least one live birth and no history of pregnancy loss. -0.4 Association of miR-146aC>G, miR-149C>T, miR-196a2T>C, and miR-499A>G polymorphisms with risk of recurrent implantation failure in Korean women. case-control analysis hsa-mir-196a-2 miRNA Failure of embryo implantation -0.33 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000425 24643999 miR-223 rs1044165 T N/a 365 gastric cancer cases and 1,284 matched controls within the european prospective investigation into cancer and nutrition cohort EFO_0000402 N/A Decreasing risk Gastric cancer (diffuse type) rs1044165-T of miR-223 and its dysfunction is significantly associated with the decreasing risk of gastric cancer (Diffuse type) by using case-control analysis in 365 gastric cancer cases and 1,284 matched controls within the European Prospective Investigation into Cancer and Nutrition cohort. 0.4 Genetic association of gastric cancer with miRNA clusters including the cancer-related genes MIR29, MIR25, MIR93 and MIR106: results from the EPIC-EURGAST study. case-control analysis hsa-mir-223 miRNA Diffuse gastric adenocancer 0.33 AATGATCCTG(G > A)ATATAGCTGG chrX: 66021884 0.9555,0.0445 0.91664277522935779,0.08335722477064220 Region score:0.62; TSS score:0.75; Unmatched score:0.87; Average GERP:0.1915485148514851 GeneName:AL034397.3; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000274536; TranscriptID:ENST00000621933; AnnoType:DOWNSTREAM; mirSVR-Score:-0.7043; mirSVR-E:-21.61 | GeneName:MIR223; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000284567; TranscriptID:ENST00000385204; AnnoType:DOWNSTREAM; mirSVR-Score:-0.7043; mirSVR-E:-21.61 | GeneName:VSIG4; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000155659; TranscriptID:ENST00000374737; AnnoType:3PRIME_UTR; mirSVR-Score:-0.7043; mirSVR-E:-21.61 | NCRV0000000426 27588450 NONHSAT183488.1 rs715 C N/A 23,553 european ancestry individuals//23,536 japanese individuals//16,325 hispanic individuals//8,224 african american individuals EFO_0003884 N/A Associate Glomerular filtration rate rs715-C of NONHSAT183488.1 is significantly associated with the glomerular filtration rate by using GWAS analysis in 23,553 european ancestry individuals//23,536 japanese individuals//16,325 hispanic individuals//8,224 african american individuals(p-value = 1E-11 ;OR = 0.876). 0.4 Trans-ethnic Fine Mapping Highlights Kidney-Function Genes Linked to Salt Sensitivity. genome-wide association analysis NONHSAT183488.1 lncRNA Chronic kidney disease 0.33 TTCTGAACTC(T > C)TTCTATACTT chr2: 210678331 0.7638,0.2362 0.72770928899082568,0.27229071100917431 Region score:0.52; TSS score:0.86; Unmatched score:0.84; Average GERP:0.6805089108910892 GeneName:CPS1; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000021826; TranscriptID:ENST00000430249; AnnoType:3PRIME_UTR; mirSVR-Score:-1.1081; mirSVR-E:-13.72 | NCRV0000000427 27863252 NONHSAT207279.1 rs16895831 T N/A 170,702 european ancestry individuals EFO_0004833 N/A Associate Neutrophil count rs16895831-T of NONHSAT207279.1 is significantly associated with the neutrophil count by using GWAS analysis in 170,702 european ancestry individuals(p-value = 1E-10 ;OR = 0.02879943). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT207279.1 lncRNA Neutrophil count 0.33 TGGCTGCCGG(C > T)TGTGGATTCC chr6: 42548053 0.8033,0.1967 0.79576803007135575,0.20423196992864424 Region score:0.39; TSS score:0.39; Unmatched score:0.52; Average GERP:0.009751485148514826 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000790835; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000428 25188341 NONHSAT190480.1 rs6127813 T N/A up to 3,526 individuals EFO_0006792 N/A Associate Lewy body disease rs6127813-T of NONHSAT190480.1 is significantly associated with the lewy body disease by using GWAS analysis in up to 3,526 individuals(p-value = 3E-6 ;OR = 0.2697). 0.4 Genome-wide association meta-analysis of neuropathologic features of Alzheimer's disease and related dementias. genome-wide association analysis NONHSAT190480.1 lncRNA Lewy body dementia 0.33 AGGTATTTGT(C > T)GAATCAAGCT chr20: 56679998 0.7067,0.2933 0.69535231906218144,0.30464768093781855 Region score:0.39; TSS score:0.26; Unmatched score:0.15; Average GERP:-0.8685837623762377 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000429 25811787 NONHSAT218739.1 rs3115775 C N/A 4,613 european ancestry male individuals//4,690 european ancestry female individuals//142 european ancestry individuals EFO_0004531 N/A Associate Urate levels in obese individuals rs3115775-C of NONHSAT218739.1 is significantly associated with the urate levels in obese individuals by using GWAS analysis in 4,613 european ancestry male individuals//4,690 european ancestry female individuals//142 european ancestry individuals(p-value = 8E-6 ;OR = 0.18). 0.4 Modulation of genetic associations with serum urate levels by body-mass-index in humans. genome-wide association analysis NONHSAT218739.1 lncRNA Urate measurement 0.33 AAGTGAGTTG(T > C)TTTTTTGTAA chr8: 117695487 0.8666,0.1334 0.92942469418960244,0.07057530581039755 Region score:0.33; TSS score:0.17; Unmatched score:0.04; Average GERP:-0.229369603960396 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000430 28199695 NONHSAT106388.2 rs9391907 C N/A 84,724 european ancestry individuals EFO_0008378 N/A Associate Mosquito bite size rs9391907-C of NONHSAT106388.2 is significantly associated with the mosquito bite size by using GWAS analysis in 84,724 european ancestry individuals(p-value = 3E-6 ;OR = 0.0292716). 0.4 GWAS of self-reported mosquito bite size, itch intensity and attractiveness to mosquitoes implicates immune-related predisposition loci. genome-wide association analysis NONHSAT106388.2 lncRNA Mosquito bite reaction size measurement 0.33 CAGCCTTCTC(A > C)CCGTGGGAAC chr6: 1161657 0.8287,0.1713 0.81371846330275229,0.18628153669724770 Region score:0.38; TSS score:0.27; Unmatched score:0.18; Average GERP:-1.8539326732673276 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000431 29705927 miRNA-196a2 rs11614913 C N/a 60 patients with salivary gland tumors (sgt) EFO_0003826 N/A No significance for risk Salivary gland tumors rs11614913-C of miRNA-196a2 and its dysfunction is not significantly associated with salivary gland tumors by using case-control analysis in 60 patients with salivary gland tumors (SGT). -0.4 Single nucleotide polymorphism rs11614913 associated with CC genotype in miR-196a2 is overrepresented in laryngeal squamous cell carcinoma, but not salivary gland tumors in Polish population. case-control analysis hsa-mir-196a-2 miRNA Salivary gland neoplasm -0.33 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000432 25811787 NONHSAT056298.2 rs1000791 T N/A 4,613 european ancestry male individuals//4,690 european ancestry female individuals//142 european ancestry individuals EFO_0004531 N/A Associate Urate levels in obese individuals rs1000791-T of NONHSAT056298.2 is significantly associated with the urate levels in obese individuals by using GWAS analysis in 4,613 european ancestry male individuals//4,690 european ancestry female individuals//142 european ancestry individuals(p-value = 4E-7 ;OR = 0.209). 0.4 Modulation of genetic associations with serum urate levels by body-mass-index in humans. genome-wide association analysis NONHSAT056298.2 lncRNA Urate measurement 0.33 CTGGGTTCCT(T > A)TCCATTGTAA chr17: 79269796 0.8329,0.1671 0.90598719418960244,0.09401280581039755 Region score:0.29; TSS score:0.34; Unmatched score:0.22; Average GERP:-0.23171881188118798 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000565751; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RBFOX3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000167281; TranscriptID:ENST00000580155; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000433 24995424 miR-122 rs4503880 A N/a 1,300 hbv-positive hcc cases, 1,344 hbv carriers, and 1,344 persons who cleared hbv naturally EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs4503880-A of miR-122 and its dysfunction is not significantly associated with hepatocellular carcinoma by using case-control analysis in 1,300 HBV-positive HCC cases, 1,344 HBV carriers, and 1,344 persons who cleared HBV naturally . -0.4 A genetic variant in microRNA-122 regulatory region confers risk for chronic hepatitis B virus infection and hepatocellular carcinoma in Han Chinese. case-control analysis hsa-mir-122 miRNA Hepatocellular cancer -0.33 TCTGTAAATT(T > A,C)CAATCTTGTT chr18: 58416822 0.1743,.,0.8257 0.18251465341488277,0.00259620285423037,0.81488914373088685 Region score:0.43; TSS score:0.39; Unmatched score:0.37; Average GERP:-0.4411207920792079 GeneName:AC105105.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000267675; TranscriptID:ENST00000585470; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000103947; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000434 27863252 NONHSAT180721.1 rs74929147 A N/A 172,433 european ancestry individuals EFO_0004526 N/A Associate Mean corpuscular volume rs74929147-A of NONHSAT180721.1 is significantly associated with the mean corpuscular volume by using GWAS analysis in 172,433 european ancestry individuals(p-value = 4E-13 ;OR = 0.05570995). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT180721.1 lncRNA Mean corpuscular volume 0.33 GGAAACCCAC(G > A,C)GGGCTGAGCG chr19: 18302251 0.9675,0.03255,. 0.95015449796126401,0.04983753822629969,0.00000796381243628 Region score:0.41; TSS score:0.58; Unmatched score:0.34; Average GERP:0.03447999999999998 GeneName:LSM4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000130520; TranscriptID:ENST00000593829; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000435 27976721 NONHSAT218737.1 rs10100465 G N/A 2,743 chinese ancestry cases//3,573 chinese ancestry controls; 5,413 han chinese ancestry cases//12,037 han chinese ancestry controls EFO_0001054 N/A Associate Leprosy rs10100465-G of NONHSAT218737.1 is significantly associated with the leprosy by using GWAS analysis in 2,743 chinese ancestry cases//3,573 chinese ancestry controls; 5,413 han chinese ancestry cases//12,037 han chinese ancestry controls(p-value = 3E-11 ;OR = 1.1764705). 0.4 A large-scale genome-wide association and meta-analysis identified four novel susceptibility loci for leprosy. genome-wide association analysis NONHSAT218737.1 lncRNA Leprosy 0.33 GGTACCATCT(G > A)TAATTGATGA chr8: 117614040 0.7546,0.2454 0.76505956931702344,0.23494043068297655 Region score:0.37; TSS score:0.38; Unmatched score:0.19; Average GERP:0.6319821782178218 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000866957; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000436 21833088 NONHSAT154377.1 rs1323292 A N/A 9,772 european ancestry cases//16,849 european ancestry controls; 4,218 european ancestry cases//7,296 european ancestry controls EFO_0003885 N/A Associate Multiple sclerosis rs1323292-A of NONHSAT154377.1 is significantly associated with the multiple sclerosis by using GWAS analysis in 9,772 european ancestry cases//16,849 european ancestry controls; 4,218 european ancestry cases//7,296 european ancestry controls(p-value = 2E-8 ;OR = 1.12). 0.4 Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. genome-wide association analysis NONHSAT154377.1 lncRNA Multiple sclerosis 0.33 CTGAAAGATT(G > A)GAGCAGAGTG chr1: 192571891 0.1298,0.8702 0.14574573139653414,0.85425426860346585 Region score:0.47; TSS score:0.6; Unmatched score:0.29; Average GERP:1.601227722772277 GeneName:AL390957.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000285280; TranscriptID:ENST00000434300; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RGS1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000090104; TranscriptID:ENST00000367459; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000437 26634245 NONHSAT047597.2 rs1825082 A N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs1825082-A of NONHSAT047597.2 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 7E-7 ;OR = 0.047). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT047597.2 lncRNA Pulmonary function measurement 0.33 AGTCCAGTGG(G > A)GTCCCGTGAT chr15: 78731091 0.7061,0.2939 0.66344928644240570,0.33655071355759429 Region score:0.2; TSS score:0.3; Unmatched score:0.39; Average GERP:0.8764950495049507 GeneName:AC022748.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000261303; TranscriptID:ENST00000564933; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CHRNB4; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000117971; TranscriptID:ENST00000558216; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000438 27863252 NONHSAT006319.2 rs4970966 T N/A 169,545 european ancestry individuals EFO_0007997 N/A Associate Granulocyte percentage of myeloid white cells rs4970966-T of NONHSAT006319.2 is significantly associated with the granulocyte percentage of myeloid white cells by using GWAS analysis in 169,545 european ancestry individuals(p-value = 4E-51 ;OR = 0.06472374). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT006319.2 lncRNA Granulocyte percentage of myeloid white cells 0.33 ACACGGGCTT(G > T)CATTTCTAAA chr1: 150611627 0.8299,0.1701 0.83659849643221202,0.16340150356778797 Region score:0.49; TSS score:0.54; Unmatched score:0.69; Average GERP:0.7767138613861383 GeneName:ENSA; CADD-Score:2; Consquence:intron; GeneID:ENSG00000143420; TranscriptID:ENST00000369016; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000372432; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF00015; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000276103; TranscriptID:ENST00000620626; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000439 28271678 miR-499 rs3746444 G Recessive 288 cad patients and 150 control subjects EFO_0000378 N/A Increasing risk Coronary artery disease rs3746444-G of miR-499 and its dysfunction is significantly associated with the increasing risk of coronary artery disease by using case-control analysis in 288 CAD patients and 150 control subjects. 0.4 The pre-mir-499 Variant rs3746444 May Contribute to Coronary Artery Disease Susceptibility: a Case-Control and Meta-Analysis Study. case-control analysis hsa-mir-499a miRNA Coronary artery disease 0.181 CCACGTGAAC(A > G)TCACAGCAAG chr20: 34990448 0.8165,0.1835 0.81708715596330275,0.18291284403669724 Region score:0.79; TSS score:0.85; Unmatched score:0.95; Average GERP:3.757564356435645 GeneName:MIR499A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207635; TranscriptID:ENST00000384903; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR499B; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283441; TranscriptID:ENST00000636498; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYH7B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000078814; TranscriptID:ENST00000262873; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000439 24447667 miR-499 rs3746444 C N/a 295 coronary artery disease patients and 283 controls in a chinese population EFO_0000378 N/A No significance for risk Coronary artery disease rs3746444-C of miR-499 and its dysfunction is not significantly associated with coronary artery disease by using case-control analysis in 295 coronary artery disease patients and 283 controls in a Chinese population. -0.4 A common variant in pre-miR-146 is associated with coronary artery disease risk and its mature miRNA expression. case-control analysis hsa-mir-499a miRNA Coronary artery disease 0.181 CCACGTGAAC(A > G)TCACAGCAAG chr20: 34990448 0.8165,0.1835 0.81708715596330275,0.18291284403669724 Region score:0.79; TSS score:0.85; Unmatched score:0.95; Average GERP:3.757564356435645 GeneName:MIR499A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207635; TranscriptID:ENST00000384903; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR499B; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283441; TranscriptID:ENST00000636498; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYH7B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000078814; TranscriptID:ENST00000262873; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000439 22159951 mir-499 rs3746444 G Recessive 956 cad patients diagnosed by coronary arterial angiography and 620 controls EFO_0000378 N/A Increasing risk Coronary artery disease rs3746444-G of mir-499 and its dysfunction is significantly associated with the increasing risk of coronary artery disease by using case-control analysis in 956 CAD patients diagnosed by coronary arterial angiography and 620 controls. 0.4 Polymorphisms of miRNAs genes are associated with the risk and prognosis of coronary artery disease. case-control analysis hsa-mir-499a miRNA Coronary artery disease 0.181 CCACGTGAAC(A > G)TCACAGCAAG chr20: 34990448 0.8165,0.1835 0.81708715596330275,0.18291284403669724 Region score:0.79; TSS score:0.85; Unmatched score:0.95; Average GERP:3.757564356435645 GeneName:MIR499A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207635; TranscriptID:ENST00000384903; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR499B; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283441; TranscriptID:ENST00000636498; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYH7B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000078814; TranscriptID:ENST00000262873; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000440 25130324 NONHSAT217844.1 rs4876199 T N/A 1,778 european ancestry individuals//1,276 individuals EFO_0005852 N/A Associate Heschl's gyrus morphology rs4876199-T of NONHSAT217844.1 is significantly associated with the heschl's gyrus morphology by using GWAS analysis in 1,778 european ancestry individuals//1,276 individuals(p-value = 4E-6 ;OR = 0.0515). 0.4 A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus. genome-wide association analysis NONHSAT217844.1 lncRNA Heschl's gyrus morphology measurement 0.33 CTTGGACCGG(T > G)TGGGCTTCCC chr8: 2229242 0.1354,0.8646 0.84570113404689092,0.15429886595310907 Region score:0.26; TSS score:0.25; Unmatched score:0.2; Average GERP:-0.5994038613861388 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000441 21102462 NONHSAT218435.1 rs7821178 A N/A 86,142 european ancestry female individuals//557 old order amish (founder/genetic isolate) female individuals//1,103 erasmus rucphen (founder/genetic isolate) female individuals; up to 12,813 european ancestry female individuals//910 val borbera (founder/genetic isolate) female individuals//348 orcadian (founder/genetic isolate) female individuals//338 friuli venezia giulia (founder/genetic isolate) female individuals//322 carlantino (founder/genetic/isolate) female individuals EFO_0004703 N/A Associate Menarche (age at onset) rs7821178-A of NONHSAT218435.1 is significantly associated with the menarche (age at onset) by using GWAS analysis in 86,142 european ancestry female individuals//557 old order amish (founder/genetic isolate) female individuals//1,103 erasmus rucphen (founder/genetic isolate) female individuals; up to 12,813 european ancestry female individuals//910 val borbera (founder/genetic isolate) female individuals//348 orcadian (founder/genetic isolate) female individuals//338 friuli venezia giulia (founder/genetic isolate) female individuals//322 carlantino (founder/genetic/isolate) female individuals(p-value = 3E-9 ;OR = 2.4). 0.4 Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. genome-wide association analysis NONHSAT218435.1 lncRNA Age at menarche 0.451 TCACCCAGCA(C > A,G,T)CCAGATCCTG chr8: 77181601 N/A 0.59406058868501529,0.40200528797145769,0.00004778287461773,0.00388634046890927 Region score:0.37; TSS score:0.33; Unmatched score:0.06; Average GERP:-0.988230693069307 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000441 25231870 NONHSAT218435.1 rs7821178 C N/A up to 182,413 european ancestry females EFO_0004703 N/A Associate Menarche (age at onset) rs7821178-C of NONHSAT218435.1 is significantly associated with the menarche (age at onset) by using GWAS analysis in up to 182,413 european ancestry females(p-value = 7E-17 ;OR = 0.04). 0.4 Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. genome-wide association analysis NONHSAT218435.1 lncRNA Age at menarche 0.451 TCACCCAGCA(C > A,G,T)CCAGATCCTG chr8: 77181601 N/A 0.59406058868501529,0.40200528797145769,0.00004778287461773,0.00388634046890927 Region score:0.37; TSS score:0.33; Unmatched score:0.06; Average GERP:-0.988230693069307 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000442 23031429 NONHSAT179794.1 rs445925 G N/A 1,720 european ancestry monozygotic twins EFO_0004732 N/A Associate Apolipoprotein levels rs445925-G of NONHSAT179794.1 is significantly associated with the apolipoprotein levels by using GWAS analysis in 1,720 european ancestry monozygotic twins(p-value = 2E-14 ;OR = 0.149). 0.4 A genome-wide association study of monozygotic twin-pairs suggests a locus related to variability of serum high-density lipoprotein cholesterol. genome-wide association analysis NONHSAT179794.1 lncRNA Lipoprotein measurement 0.33 GAAGGACAAA(G > A,C)AGCCCCCTTT chr19: 44912383 0.8502,0.1498,. 0.84554982161060142,0.15443425076452599,0.00001592762487257 Region score:0.32; TSS score:0.46; Unmatched score:0.37; Average GERP:-0.3876799999999996 GeneName:AC011481.3; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000280087; TranscriptID:ENST00000623895; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:APOC1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000130208; TranscriptID:ENST00000588750; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:APOE; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000130203; TranscriptID:ENST00000252486; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000443 25201061 miR-34b/c rs4938723 C Dominant 6,036 cancer patients and 7,490 controls EFO_0000311 N/A Increasing risk Cancer rs4938723-C of miR-34b/c and its dysfunction is significantly associated with the increasing risk of cancer by using meta-analysis in 6,036 cancer patients and 7,490 controls. 0.4 Pri-miR-34b/c rs4938723 TC heterozygote is associated with increased cancer risks: evidence from published data. meta-analysis hsa-mir-34b miRNA Cancer 0.33 TTTGACCTAT(T > C)ACAGCTCTCA chr11: 111511840 0.7143,0.2857 0.67424025229357798,0.32575974770642201 Region score:0.24; TSS score:0.41; Unmatched score:0.71; Average GERP:-0.7293356435643562 GeneName:AP002008.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000254980; TranscriptID:ENST00000530283; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:BTG4; CADD-Score:2; Consquence:intron; GeneID:ENSG00000137707; TranscriptID:ENST00000356018; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:C11orf88; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000183644; TranscriptID:ENST00000332814; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR34B; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207811; TranscriptID:ENST00000385076; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR34C; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207562; TranscriptID:ENST00000384831; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000444 26302683 miR-27a rs895819 G Recessive 508 crc cases and 562 healthy check-up controls in han chinese population EFO_0005842 N/A Increasing risk Colorectal cancer rs895819-G of miR-27a and its dysfunction is significantly associated with the increasing risk of colorectal cancer by using case-control analysis in 508 CRC cases and 562 healthy check-up controls in Han Chinese Population. 0.4 Genotype GG of rs895819 Functional Polymorphism Within miR-27a Might Increase Genetic Susceptibility to Colorectal Cancer in Han Chinese Population. case-control analysis hsa-mir-27a miRNA Colorectal cancer 0.352 CACGACTTGG(T > C)GTGGACCCTG chr19: 13836478 0.6362,0.3638 0.63091711264016309,0.36908288735983690 Region score:0.57; TSS score:0.41; Unmatched score:0.75; Average GERP:2.158386138613861 GeneName:AC020916.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000267519; TranscriptID:ENST00000587762; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR23A; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207980; TranscriptID:ENST00000385245; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR24-2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284387; TranscriptID:ENST00000386972; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR27A; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207808; TranscriptID:ENST00000385073; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000107447; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ZSWIM4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000132003; TranscriptID:ENST00000254323; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000444 25078482 pre-miR-27a rs895819 G Recessive 205 colorectal cancer patients and 455 healthy controls EFO_0005842 N/A Increasing risk Colorectal cancer rs895819-G of pre-miR-27a and its dysfunction is significantly associated with the increasing risk of colorectal cancer by using case-control analysis in 205 colorectal cancer patients and 455 healthy controls. 0.4 Association between miR-27a genetic variants and susceptibility to colorectal cancer. case-control analysis hsa-mir-27a miRNA Colorectal cancer 0.352 CACGACTTGG(T > C)GTGGACCCTG chr19: 13836478 0.6362,0.3638 0.63091711264016309,0.36908288735983690 Region score:0.57; TSS score:0.41; Unmatched score:0.75; Average GERP:2.158386138613861 GeneName:AC020916.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000267519; TranscriptID:ENST00000587762; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR23A; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207980; TranscriptID:ENST00000385245; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR24-2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284387; TranscriptID:ENST00000386972; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR27A; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207808; TranscriptID:ENST00000385073; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000107447; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ZSWIM4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000132003; TranscriptID:ENST00000254323; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000444 22719192 miR-27a rs895819 G N/a 197 cases of sporadic crc and 212 cancer-free controls in the central-european caucasian population EFO_0005842 N/A No significance for risk Colorectal cancer rs895819-G of miR-27a and its dysfunction is not significantly associated with colorectal cancer by using case-control analysis in 197 cases of sporadic CRC and 212 cancer-free controls in the Central-European Caucasian population. -0.4 Evaluation of SNPs in miR-196-a2, miR-27a and miR-146a as risk factors of colorectal cancer. case-control analysis hsa-mir-27a miRNA Colorectal cancer 0.352 CACGACTTGG(T > C)GTGGACCCTG chr19: 13836478 0.6362,0.3638 0.63091711264016309,0.36908288735983690 Region score:0.57; TSS score:0.41; Unmatched score:0.75; Average GERP:2.158386138613861 GeneName:AC020916.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000267519; TranscriptID:ENST00000587762; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR23A; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207980; TranscriptID:ENST00000385245; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR24-2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284387; TranscriptID:ENST00000386972; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR27A; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207808; TranscriptID:ENST00000385073; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000107447; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ZSWIM4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000132003; TranscriptID:ENST00000254323; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000444 25222241 miRNA-27a rs895819 G N/A 254 colorectal cancer (CRC) patients and 238 healthy controls EFO_0005842 N/A increasing risk colorectal cancer rs895819-G of hsa-mir-27a and its dysfunction is significantly associated with the increasing risk of Colorectal cancer by using case-control analysis in 254 colorectal cancer (CRC) patients and 238 healthy controls 0.4 Association between a functional variant in microRNA-27a and susceptibility to colorectal cancer in a Chinese Han population. case-control analysis hsa-mir-27a miRNA Colorectal cancer 0.352 CACGACTTGG(T > C)GTGGACCCTG chr19: 13836478 0.6362,0.3638 0.63091711264016309,0.36908288735983690 Region score:0.57; TSS score:0.41; Unmatched score:0.75; Average GERP:2.158386138613861 GeneName:AC020916.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000267519; TranscriptID:ENST00000587762; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR23A; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207980; TranscriptID:ENST00000385245; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR24-2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284387; TranscriptID:ENST00000386972; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR27A; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207808; TranscriptID:ENST00000385073; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000107447; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ZSWIM4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000132003; TranscriptID:ENST00000254323; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000444 30447914 miR-27a rs895819 G recessive + co-dominant Case: 1355 Control: 1895 EFO_0005842 N/A increasing risk colorectal cancer rs895819?-G of hsa-mir-27a and its dysfunction is significantly associated with the increasing risk of Colorectal cancer by using meta-analysis in Case: 1355 Control: 1895 0.4 Polymorphisms in non-coding RNAs and risk of colorectal cancer: A systematic review and meta-analysis. meta-analysis hsa-mir-27a miRNA Colorectal cancer 0.352 CACGACTTGG(T > C)GTGGACCCTG chr19: 13836478 0.6362,0.3638 0.63091711264016309,0.36908288735983690 Region score:0.57; TSS score:0.41; Unmatched score:0.75; Average GERP:2.158386138613861 GeneName:AC020916.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000267519; TranscriptID:ENST00000587762; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR23A; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207980; TranscriptID:ENST00000385245; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR24-2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284387; TranscriptID:ENST00000386972; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR27A; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207808; TranscriptID:ENST00000385073; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000107447; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ZSWIM4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000132003; TranscriptID:ENST00000254323; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000445 28240269 NONHSAT216786.1 rs3947 A N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0008072 N/A Associate Blood protein levels rs3947-A of NONHSAT216786.1 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 2E-27 ;OR = 0.5154). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. genome-wide association analysis NONHSAT216786.1 lncRNA Cathepsin b measurement 0.33 AGCTGGGGCA(G > A)CAGGTACTCC chr8: 11844866 0.8828,0.1172 0.81432371304791029,0.18567628695208970 Region score:0.37; TSS score:0.51; Unmatched score:0.74; Average GERP:-1.2950534653465344 GeneName:AC025857.2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000269899; TranscriptID:ENST00000602711; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0501; mirSVR-E:-22.11 | GeneName:CTSB; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000164733; TranscriptID:ENST00000353047; AnnoType:3PRIME_UTR; mirSVR-Score:-0.0501; mirSVR-E:-22.11 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000847863; AnnoType:REGULATORY; mirSVR-Score:-0.0501; mirSVR-E:-22.11 | NCRV0000000446 28642124 NONHSAT161002.1 rs3889139 ? N/A 1,989 european and unknown ancestry mutation carriers Orphanet_399 N/A Associate Huntington's disease progression rs3889139-? of NONHSAT161002.1 is significantly associated with the huntington's disease progression by using GWAS analysis in 1,989 european and unknown ancestry mutation carriers(p-value = 2E-6 ;OR = 2.795). 0.4 Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study. genome-wide association analysis NONHSAT161002.1 lncRNA Huntington disease 0.33 CAGAAGTTCT(G > A)TGGAAATCCC chr11: 6864198 0.874,0.126 0.86826261467889908,0.13173738532110091 Region score:0.21; TSS score:0.17; Unmatched score:0.15; Average GERP:-0.5720514851485147 GeneName:AC087280.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000283415; TranscriptID:ENST00000637205; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:OR10A2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000170790; TranscriptID:ENST00000641461; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000447 16251535 miR-187 rs74699517 A Dominant 75 patients with cll and 160 control subjects EFO_0000095 N/A Increasing risk Chronic lymphocytic leukemia rs74699517-A of miR-187 and its dysfunction is significantly associated with the increasing risk of chronic lymphocytic leukemia by using case-control analysis in 75 patients with CLL and 160 control subjects. 0.4 A MicroRNA signature associated with prognosis and progression in chronic lymphocytic leukemia. case-control analysis hsa-mir-187 miRNA Chronic lymphocytic leukemia 0.33 TGCCCACCAG(A > G)GCCTGGACTT chr18: 35904745 0.9866,0.01338 0.98466966106014271,0.01533033893985728 Region score:0.34; TSS score:0.14; Unmatched score:0.22; Average GERP:-1.8294544554455445 GeneName:MIR187; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207797; TranscriptID:ENST00000385062; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000448 26561523 NONHSAT204695.1 rs2057655 A N/A 120,246 european ancestry individuals EFO_0004623 N/A Associate Fibrinogen levels rs2057655-A of NONHSAT204695.1 is significantly associated with the fibrinogen levels by using GWAS analysis in 120,246 european ancestry individuals(p-value = 2E-73 ;OR = 0.0203). 0.4 A meta-analysis of 120 246 individuals identifies 18 new loci for fibrinogen concentration. genome-wide association analysis NONHSAT204695.1 lncRNA Fibrinogen measurement 0.33 TGTTATGTAC(G > A)ATGTAAGCAG chr5: 132471932 0.6979,0.3021 0.75089194699286442,0.24910805300713557 Region score:0.46; TSS score:0.27; Unmatched score:0.56; Average GERP:-0.008877227722772425 GeneName:AC116366.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000234290; TranscriptID:ENST00000443093; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC116366.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000283782; TranscriptID:ENST00000640655; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:C5orf56; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000197536; TranscriptID:ENST00000612967; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF00019; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000202533; TranscriptID:ENST00000365663; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000449 26632684 NONHSAT175276.1 rs2732614 T N/A 6,252 european ancestry individuals GO_0007608 N/A Associate Sense of smell rs2732614-T of NONHSAT175276.1 is significantly associated with the sense of smell by using GWAS analysis in 6,252 european ancestry individuals(p-value = 7E-6 ;OR = 0.03). 0.4 Genome-wide Meta-analysis on the Sense of Smell Among US Older Adults. genome-wide association analysis NONHSAT175276.1 lncRNA N/a 0.33 CTCACTGCTG(C > T)CCTCTTGTGC chr17: 46286843 0.9267,0.07328 0.87476108562691131,0.12523891437308868 Region score:0.53; TSS score:0.48; Unmatched score:0.45; Average GERP:1.1351940594059415 GeneName:ARL17B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000228696; TranscriptID:ENST00000570618; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000095053; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000557112; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000450 23251661 NONHSAT186310.1 rs13403276 G N/A 815 hispanic children from 263 families EFO_0003939 N/A Associate Obesity-related traits rs13403276-G of NONHSAT186310.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 3E-6 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. genome-wide association analysis NONHSAT186310.1 lncRNA Energy intake 0.33 TCTGATCCTC(T > C)CCCCATGCAT chr2: 218216574 0.9764,0.02356 0.96148700305810397,0.03851299694189602 Region score:0.35; TSS score:0.46; Unmatched score:0.81; Average GERP:0.3496356435643564 GeneName:ARPC2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000163466; TranscriptID:ENST00000295685; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000130375; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000451 20195514 NONHSAT176513.1 rs8079702 G N/A 5,919 european ancestry related individuals GO_0042476 N/A Associate Primary tooth development (number of teeth) rs8079702-G of NONHSAT176513.1 is significantly associated with the primary tooth development (number of teeth) by using GWAS analysis in 5,919 european ancestry related individuals(p-value = 1E-14 ;OR = ?). 0.4 Genome-wide association study reveals multiple loci associated with primary tooth development during infancy. genome-wide association analysis NONHSAT176513.1 lncRNA Odontogenesis 0.33 AGTAGCTTAC(G > A)TAAGTCAGGC chr17: 70194685 0.4872,0.5128 0.48001879459734964,0.51998120540265035 Region score:0.29; TSS score:0.14; Unmatched score:0.02; Average GERP:-0.21265157894736847 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000452 26634245 NONHSAT213835.1 rs188593748 A N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio rs188593748-A of NONHSAT213835.1 is significantly associated with the post bronchodilator fev1/fvc ratio by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 8E-7 ;OR = 0.451). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT213835.1 lncRNA Pulmonary function measurement 0.33 GGTGCACGTC(G > A)GTAATCTCAG chr7: 108516778 0.9996,0.0003994 0.99984868756371049,0.00015131243628950 Region score:0.32; TSS score:0.04; Unmatched score:0.03; Average GERP:0.10626732673267324 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000216700; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PNPLA8; CADD-Score:2; Consquence:intron; GeneID:ENSG00000135241; TranscriptID:ENST00000422087; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000453 24306027 miR-29b-2 rs760739783 C Dominant 98 chronic lymphocytic leukemia patients(cll), additionally, the primary regions of mir-29b-2/29c and mir-16-1 were analyzed in another cohort of 213 and 193 cll patients EFO_0000095 N/A Increasing risk Chronic lymphocytic leukemia rs760739783-C of miR-29b-2 and its dysfunction is significantly associated with the increasing risk of chronic lymphocytic leukemia by using case-control analysis in 98 chronic lymphocytic leukemia patients(CLL), Additionally, the primary regions of miR-29b-2/29c and miR-16-1 were analyzed in another cohort of 213 and 193 CLL patients. 0.4 Identification of novel sequence variations in microRNAs in chronic lymphocytic leukemia. case-control analysis hsa-mir-29b-2 miRNA Chronic lymphocytic leukemia 0.33 CAAATTATTA(T > C)ATATGATGAA chr1: 207802779 N/A 0.99979294087665647,0.00020705912334352 N/A GeneName:MIR29B2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284203; TranscriptID:ENST00000385055; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR29B2CHG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000203709; TranscriptID:ENST00000608023; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR29C; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284214; TranscriptID:ENST00000385231; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000454 28898252 NONHSAT139199.2 rs1050828 T N/A 88,355 european ancestry individuals,18,472 east asian ancestry individuals//7,572 south asian ancestry individuals//7,564 african american individuals; 33,238 european ancestry individuals// 2,366 east asian ancestry individuals//1,302 south asian ancestry individuals EFO_0001360 N/A Associate Glycated hemoglobin levels rs1050828-T of NONHSAT139199.2 is significantly associated with the glycated hemoglobin levels by using GWAS analysis in 88,355 european ancestry individuals,18,472 east asian ancestry individuals//7,572 south asian ancestry individuals//7,564 african american individuals; 33,238 european ancestry individuals// 2,366 east asian ancestry individuals//1,302 south asian ancestry individuals(p-value = 8E-135 ;OR = 0.3819). 0.4 Impact of common genetic determinants of Hemoglobin A1c on type 2 diabetes risk and diagnosis in ancestrally diverse populations: A transethnic genome-wide meta-analysis. genome-wide association analysis NONHSAT139199.2 lncRNA Type ii diabetes mellitus 0.33 GCATAGCCCA(C > T)GATGAAGGTG chrX: 154536002 0.9624,0.03762 0.96296030835881753,0.03703969164118246 Region score:0.58; TSS score:0.29; Unmatched score:0.65; Average GERP:2.551158415841584 GeneName:G6PD; CADD-Score:7; Consquence:missense; GeneID:ENSG00000160211; TranscriptID:ENST00000621232; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000455 19915575 NONHSAT200200.1 rs2736990 C N/A 1,713 european ancestry cases//3,978 european ancestry controls; 3,361 european ancestry cases//4,573 european ancestry controls EFO_0002508 N/A Associate Parkinson's disease rs2736990-C of NONHSAT200200.1 is significantly associated with the parkinson's disease by using GWAS analysis in 1,713 european ancestry cases//3,978 european ancestry controls; 3,361 european ancestry cases//4,573 european ancestry controls(p-value = 2E-16 ;OR = 1.23). 0.4 Genome-wide association study reveals genetic risk underlying Parkinson's disease. genome-wide association analysis NONHSAT200200.1 lncRNA Parkinson's disease 0.451 TAGGAAGAAG(G > A,T)TGTATATGTG chr4: 89757390 0.6066,0.3934,. 0.56417240061162079,0.43576388888888888,0.00006371049949031 Region score:0.45; TSS score:0.25; Unmatched score:0.07; Average GERP:0.25165544554455443 GeneName:AC097478.4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000277695; TranscriptID:ENST00000615968; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNCA; CADD-Score:2; Consquence:intron; GeneID:ENSG00000145335; TranscriptID:ENST00000336904; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000455 20070850 NONHSAT200200.1 rs2736990 ? N/A 1,752 european ancestry cases//1,745 european ancestry controls EFO_0002508 N/A Associate Parkinson's disease rs2736990-? of NONHSAT200200.1 is significantly associated with the parkinson's disease by using GWAS analysis in 1,752 european ancestry cases//1,745 european ancestry controls(p-value = 7E-8 ;OR = 1.29). 0.4 Genome-wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for Parkinson disease. genome-wide association analysis NONHSAT200200.1 lncRNA Parkinson's disease 0.451 TAGGAAGAAG(G > A,T)TGTATATGTG chr4: 89757390 0.6066,0.3934,. 0.56417240061162079,0.43576388888888888,0.00006371049949031 Region score:0.45; TSS score:0.25; Unmatched score:0.07; Average GERP:0.25165544554455443 GeneName:AC097478.4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000277695; TranscriptID:ENST00000615968; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNCA; CADD-Score:2; Consquence:intron; GeneID:ENSG00000145335; TranscriptID:ENST00000336904; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000456 22778062 SNORD114-6 rs12886437 T N/a N/a function N/A Not significant changes in the structure Function rs12886437-T of SNORD114-6 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD114-6 snoRNA Function -0.049 GTCTGGAACT(C > T)TGAGGTCCAA chr14: 100957227 N/A RS=12886437;RSPOS=100957227;dbSNPBuildID=121;SSR=0;SAO=0;VP=0x050000080005000102000100;GENEINFO=SNORD114-6:767582|MEG8:79104;WGT=1;VC=SNV;INT;ASP;GNO Region score:0.36; TSS score:0.16; Unmatched score:0.57; Average GERP:-0.9711000000000001 GeneName:MEG8; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000225746; TranscriptID:ENST00000638012; AnnoType:INTRONIC; mirSVR-Score:-0.7284; mirSVR-E:-24.51 | GeneName:RF00181; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000200150; TranscriptID:ENST00000363280; AnnoType:DOWNSTREAM; mirSVR-Score:-0.7284; mirSVR-E:-24.51 | GeneName:SNORD114-3; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000201839; TranscriptID:ENST00000364969; AnnoType:DOWNSTREAM; mirSVR-Score:-0.7284; mirSVR-E:-24.51 | GeneName:SNORD114-4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000200832; TranscriptID:ENST00000363962; AnnoType:DOWNSTREAM; mirSVR-Score:-0.7284; mirSVR-E:-24.51 | GeneName:SNORD114-5; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000199798; TranscriptID:ENST00000362928; AnnoType:DOWNSTREAM; mirSVR-Score:-0.7284; mirSVR-E:-24.51 | GeneName:SNORD114-6; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000201263; TranscriptID:ENST00000364393; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.7284; mirSVR-E:-24.51 | NCRV0000000457 24816252 NONHSAT206337.1 rs2405522 A N/A 7,824 european ancestry individuals EFO_0005664 N/A Associate Blood metabolite levels rs2405522-A of NONHSAT206337.1 is significantly associated with the blood metabolite levels by using GWAS analysis in 7,824 european ancestry individuals(p-value = 4E-29 ;OR = 0.126). 0.4 An atlas of genetic influences on human blood metabolites. genome-wide association analysis NONHSAT206337.1 lncRNA Blood metabolite measurement 0.33 TAGATCATGC(A > G,T)TGTAAATTAT chr5: 132406004 0.2867,0.7133,. 0.27331007900101936,0.71355759429153924,0.01313232670744138 Region score:0.32; TSS score:0.34; Unmatched score:0.09; Average GERP:-0.0234376237623762 GeneName:AC116366.3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000283782; TranscriptID:ENST00000638452; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:C5orf56; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000197536; TranscriptID:ENST00000337752; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000458 26424050 NONHSAT175903.1 rs8753 T N/A 2,364 northern european ancestry cases//7,435 northern european ancestry controls; up to 1,490 european ancestry cases//up to 1,723 european ancestry controls EFO_0000326 N/A Associate Non-glioblastoma glioma rs8753-T of NONHSAT175903.1 is significantly associated with the non-glioblastoma glioma by using GWAS analysis in 2,364 northern european ancestry cases//7,435 northern european ancestry controls; up to 1,490 european ancestry cases//up to 1,723 european ancestry controls(p-value = 8E-18 ;OR = 3.09). 0.4 Genome-wide association study identifies multiple susceptibility loci for glioma. genome-wide association analysis NONHSAT175903.1 lncRNA Central nervous system cancer 0.33 CGGTGAACTT(C > T)TGGATCCCGT chr17: 7514323 0.995,0.004992 0.98737735728848114,0.01262264271151885 Region score:0.38; TSS score:0.68; Unmatched score:0.74; Average GERP:-0.07283564356435646 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000548539; AnnoType:REGULATORY; mirSVR-Score:-0.2567; mirSVR-E:-17.55 | GeneName:POLR2A; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000181222; TranscriptID:ENST00000617998; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.2567; mirSVR-E:-17.55 | NCRV0000000459 28334935 NONHSAT206984.1 rs76858924 C N/A 12,375 hispanic/latino individuals EFO_0004459 N/A Associate Iron status biomarkers (ferritin levels) rs76858924-C of NONHSAT206984.1 is significantly associated with the iron status biomarkers (ferritin levels) by using GWAS analysis in 12,375 hispanic/latino individuals(p-value = 2E-7 ;OR = 0.065). 0.4 Genome-wide association study of iron traits and relation to diabetes in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL): potential genomic intersection of iron and glucose regulation? genome-wide association analysis NONHSAT206984.1 lncRNA Ferritin measurement 0.33 AATGATGAGG(C > A,T)GATTGCTCAA chr6: 26261299 0.9872,.,0.01278 0.98141246177370030,0.00000796381243628,0.01857957441386340 Region score:0.46; TSS score:0.31; Unmatched score:0.31; Average GERP:-0.03916831683168321 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000460 25673413 NONHSAT075231.2 rs355810 A N/A up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals EFO_0001073 N/A Associate Body mass index rs355810-A of NONHSAT075231.2 is significantly associated with the body mass index by using GWAS analysis in up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals(p-value = 5E-6 ;OR = 0.014). 0.4 Genetic studies of body mass index yield new insights for obesity biology. genome-wide association analysis NONHSAT075231.2 lncRNA Obesity 0.33 ACAACCATCA(G > A)TTTAATTTTG chr2: 164829136 0.3241,0.6759 0.29501146788990825,0.70498853211009174 Region score:0.33; TSS score:0.12; Unmatched score:0.08; Average GERP:-0.2709534653465345 GeneName:COBLL1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000082438; TranscriptID:ENST00000629362; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000461 27680694 NONHSAT070480.2 rs1374204 T N/A 133,903 european ancestry individuals//6,635 african american individuals//420 turkish ancestry individuals//365 moroccan ancestry individuals//395 surinamese ancestry individuals//840 chinese ancestry individuals.; 9,799 european ancestry individuals//1,449 filipino ancestry individuals. EFO_0004344 N/A Associate Birth weight rs1374204-T of NONHSAT070480.2 is significantly associated with the birth weight by using GWAS analysis in 133,903 european ancestry individuals//6,635 african american individuals//420 turkish ancestry individuals//365 moroccan ancestry individuals//395 surinamese ancestry individuals//840 chinese ancestry individuals.; 9,799 european ancestry individuals//1,449 filipino ancestry individuals.(p-value = 2E-29 ;OR = 0.0459). 0.4 Genome-wide associations for birth weight and correlations with adult disease. genome-wide association analysis NONHSAT070480.2 lncRNA Birth weight 0.33 CACAGCACTC(C > T)TTCTCTGGGC chr2: 46257066 0.4065,0.5935 0.34397298674821610,0.65602701325178389 Region score:0.29; TSS score:0.34; Unmatched score:0.64; Average GERP:-0.5705158415841582 GeneName:AC016696.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000233335; TranscriptID:ENST00000446949; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000462 26429811 miR-137 rs2660304 G dominant schizophrenia EFO_0000692 N/A increasing risk schizophrenia rs2660304-G of hsa-mir-137 and its dysfunction is significantly associated with the increasing risk of Schizophrenia by using analysis of sequence variation in schizophrenia 0.4 A GWAS SNP for Schizophrenia Is Linked to the Internal MIR137 Promoter and Supports Differential Allele-Specific Expression. analysis of sequence variation hsa-mir-137 miRNA Schizophrenia 0.33 TACCCAGTCT(G > T)GTCTCGGCCA chr1: 98046571 0.1532,0.8468 0.16120349133537206,0.83879650866462793 Region score:0.49; TSS score:0.58; Unmatched score:0.91; Average GERP:2.4234840594059386 GeneName:MIR137; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284202; TranscriptID:ENST00000385223; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR137HG; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000225206; TranscriptID:ENST00000634594; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR2682; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284247; TranscriptID:ENST00000580305; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000010436; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000463 26208586 mir-146a rs2910164 G N/a Several case-control studies EFO_0005842 N/A No significance for risk Colorectal cancer rs2910164-G of mir-146a and its dysfunction is not significantly associated with colorectal cancer by using meta-analysis in several case-control studies. -0.4 Associations of Polymorphisms in mir-196a2, mir-146a and mir-149 with Colorectal Cancer Risk: A Meta-Analysis. meta-analysis hsa-mir-146a miRNA Colorectal cancer -0.136 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 N/A 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000463 24740563 miR-146a rs2910164 C Dominant 554 colorectal cancer cases and 566 matched healthy controls EFO_0005842 N/A increasing risk colorectal cancer rs2910164-C of hsa-mir-146a and its dysfunction is significantly associated with the increasing risk of Colorectal cancer by using case-control analysis in 554 colorectal cancer cases and 566 matched healthy controls 0.4 Association of a genetic variant in microRNA-146a with risk of colorectal cancer: a population-based case-control study. case-control analysis hsa-mir-146a miRNA Colorectal cancer -0.136 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 0 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000463 29715515 mir-146a rs2910164 C N/a 152 colorectal cancer cases and 161 controls EFO_0005842 N/A No significance for risk Colorectal cancer rs2910164-C of mir-146a and its dysfunction is not significantly associated with Colorectal cancer by using case-control analysis in 152 Colorectal cancer cases and 161 controls. -0.4 Contribution of microRNA-149, microRNA-146a, and microRNA-196a2 SNPs in colorectal cancer risk and clinicopathological features in Tunisia. case-control analysis hsa-mir-146a miRNA Colorectal cancer -0.136 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 N/A 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000463 24136745 miR-146a rs2910164 C Dominant 276 colorectal cancer cases and 373 healthy controls in chinese population EFO_0005842 N/A Decreasing risk Colorectal cancer rs2910164-C of miR-146a and its dysfunction is significantly associated with the decreasing risk of colorectal cancer by using case-control analysis in 276 colorectal cancer cases and 373 healthy controls in Chinese population. 0.4 Association between microRNA genetic variants and susceptibility to colorectal cancer in Chinese population. case-control analysis hsa-mir-146a miRNA Colorectal cancer -0.136 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 N/A 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000463 23306950 miR-146a rs2910164 C Dominant 1,147 crc patients and 1,203 cancer-free controls EFO_0005842 N/A Decreasing risk Colorectal cancer rs2910164-C of miR-146a and its dysfunction is significantly associated with the decreasing risk of colorectal cancer by using case-control analysis in 1,147 CRC patients and 1,203 cancer-free controls. 0.4 A genetic variant in miR-146a modifies colorectal cancer susceptibility in a Chinese population. case-control analysis hsa-mir-146a miRNA Colorectal cancer -0.136 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 N/A 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000463 25213291 miR-146a rs2910164 C N/a 2,349 cases and 2,663 controls EFO_0005842 N/A No significance for risk Colorectal cancer rs2910164-C of miR-146a and its dysfunction is not significantly associated with colorectal cancer by using meta-analysis in 2,349 cases and 2,663 controls. -0.4 Genetic polymorphisms in miRNAs and susceptibility to colorectal cancer. meta-analysis hsa-mir-146a miRNA Colorectal cancer -0.136 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 N/A 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000463 22719192 miR-146a rs2910164 C N/A 197 cases of sporadic CRC and 212 cancer-free controls in the Central-European Caucasian population EFO_0005842 N/A no significance for risk colorectal cancer rs2910164-C of hsa-mir-146a and its dysfunction is not significantly associated with Colorectal cancer by using case-control analysis in 197 cases of sporadic CRC and 212 cancer-free controls in the Central-European Caucasian population -0.4 Evaluation of SNPs in miR-196-a2, miR-27a and miR-146a as risk factors of colorectal cancer. case-control analysis hsa-mir-146a miRNA Colorectal cancer -0.136 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 0 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000463 27713147 miR-146a rs2910164 C N/a 1358 0-iii stage resected crc patients and 1079 healthy controls EFO_0005842 N/A No significance for risk Colorectal cancer rs2910164-C of miR-146a and its dysfunction is not significantly associated with colorectal cancer by using case-control analysis in 1358 0-III stage resected CRC patients and 1079 healthy controls. -0.4 MiR-608, pre-miR-124-1 and pre-miR26a-1 polymorphisms modify susceptibility and recurrence-free survival in surgically resected CRC individuals. case-control analysis hsa-mir-146a miRNA Colorectal cancer -0.136 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 N/A 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000463 30447914 miR-146a rs2910164 C co dominant N/A EFO_0005842 N/A decreasing risk colorectal cancer rs2910164-C of hsa-mir-146a and its dysfunction is significantly associated with the decreasing risk of Colorectal cancer by using meta-analysis in nan 0.4 Polymorphisms in non-coding RNAs and risk of colorectal cancer: A systematic review and meta-analysis. meta-analysis hsa-mir-146a miRNA Colorectal cancer -0.136 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 0 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000463 30447914 miR-146a rs2910164 ? N/A N/A EFO_0005842 N/A no significance for risk colorectal cancer rs2910164-? of hsa-mir-146a and its dysfunction is not significantly associated with Colorectal cancer by using meta-analysis in nan -0.4 Polymorphisms in non-coding RNAs and risk of colorectal cancer: A systematic review and meta-analysis. meta-analysis hsa-mir-146a miRNA Colorectal cancer -0.136 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 0 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000464 28621612 ANRIL rs4977574 ? N/A 125 BPH patients and 220 normal age-matched subjects EFO_0000284 N/A increasing risk benign prostatic hyperplasia rs4977574-? of ANRIL and its dysfunction is significantly associated with the increasing risk of Benign prostatic hyperplasia by using case-control analysis in 125 BPH patients and 220 normal age-matched subjects 0.4 Association of ANRIL gene polymorphisms with prostate cancer and benign prostatic hyperplasia in an Iranian population. case-control analysis ANRIL lncRNA Benign prostatic hyperplasia 0.33 ATTCTATAGC(A > G,T)CAGGATGTTC chr9: 22098575 0.605,0.395,. 0.60243851936799184,0.39756148063200815,. Region score:0.35; TSS score:0.52; Unmatched score:0.33; Average GERP:-0.7959801980198015 GeneName:CDKN2B-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000240498; TranscriptID:ENST00000428597; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000877595; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000465 26198764 NONHSAT089960.2 rs2535627 T N/A 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls EFO_0000692 N/A Associate Schizophrenia rs2535627-T of NONHSAT089960.2 is significantly associated with the schizophrenia by using GWAS analysis in 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls(p-value = 2E-11 ;OR = 1.07). 0.4 Genome-wide association study of schizophrenia in Ashkenazi Jews. genome-wide association analysis NONHSAT089960.2 lncRNA Schizophrenia 0.451 GCCATCTATG(T > A,C,G)GGGCAAAAGC chr3: 52811089 0.4665,.,0.5335,. 0.45598400866462793,0.00003981906218144,0.54396820846075433,0.00000796381243628 Region score:0.36; TSS score:0.4; Unmatched score:0.49; Average GERP:-0.835349306930693 GeneName:AC006254.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000243696; TranscriptID:ENST00000468472; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ITIH3; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000162267; TranscriptID:ENST00000449956; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ITIH4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000055955; TranscriptID:ENST00000266041; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000465 25056061 NONHSAT089960.2 rs2535627 T N/A 32,405 european ancestry cases//42,221 european ancestry controls//1,235 european ancestry cases and 1,235 european ancestry controls from 1235 parent-offspring trios//1,836 east asian ancestry cases//3,383 east asian ancestry controls; 1,513 european ancestry cases//66,236 european ancestry controls EFO_0000692 N/A Associate Schizophrenia rs2535627-T of NONHSAT089960.2 is significantly associated with the schizophrenia by using GWAS analysis in 32,405 european ancestry cases//42,221 european ancestry controls//1,235 european ancestry cases and 1,235 european ancestry controls from 1235 parent-offspring trios//1,836 east asian ancestry cases//3,383 east asian ancestry controls; 1,513 european ancestry cases//66,236 european ancestry controls(p-value = 4E-11 ;OR = 1.071). 0.4 Biological insights from 108 schizophrenia-associated genetic loci. genome-wide association analysis NONHSAT089960.2 lncRNA Schizophrenia 0.451 GCCATCTATG(T > A,C,G)GGGCAAAAGC chr3: 52811089 0.4665,.,0.5335,. 0.45598400866462793,0.00003981906218144,0.54396820846075433,0.00000796381243628 Region score:0.36; TSS score:0.4; Unmatched score:0.49; Average GERP:-0.835349306930693 GeneName:AC006254.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000243696; TranscriptID:ENST00000468472; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ITIH3; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000162267; TranscriptID:ENST00000449956; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ITIH4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000055955; TranscriptID:ENST00000266041; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000466 28360221 NONHSAT041028.2 rs8033133 A N/A 45,889 european ancestry individuals//up to 8,765 asian indian ancestry individuals//up to 7,215 african ancestry individuals; 17,637 european ancestry individuals EFO_0007967 N/A Associate Blood osmolality (transformed sodium) rs8033133-A of NONHSAT041028.2 is significantly associated with the blood osmolality (transformed sodium) by using GWAS analysis in 45,889 european ancestry individuals//up to 8,765 asian indian ancestry individuals//up to 7,215 african ancestry individuals; 17,637 european ancestry individuals(p-value = 9E-6 ;OR = 0.09). 0.4 NFAT5 and SLC4A10 Loci Associate with Plasma Osmolality. genome-wide association analysis NONHSAT041028.2 lncRNA Blood osmolality measurement 0.33 ACATTTGATT(A > G)AGGGATTCTA chr15: 25105327 0.4046,0.5954 0.34683995922528032,0.65316004077471967 Region score:0.29; TSS score:0.06; Unmatched score:0.38; Average GERP:-0.3236316831683168 GeneName:SNHG14; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000224078; TranscriptID:ENST00000640631; AnnoType:INTRONIC; mirSVR-Score:-0.0141; mirSVR-E:-13.25 | GeneName:SNORD116-27; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000251896; TranscriptID:ENST00000516087; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0141; mirSVR-E:-13.25 | GeneName:SNORD116-28; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000278123; TranscriptID:ENST00000516123; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0141; mirSVR-E:-13.25 | GeneName:SNORD116-29; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207245; TranscriptID:ENST00000384516; AnnoType:UPSTREAM; mirSVR-Score:-0.0141; mirSVR-E:-13.25 | GeneName:SNORD116-30; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000252277; TranscriptID:ENST00000516468; AnnoType:UPSTREAM; mirSVR-Score:-0.0141; mirSVR-E:-13.25 | NCRV0000000467 24475105 miR-101 rs578481 G N/a 1064 breast cancer cases and 1073 cancer-free controls EFO_0000305 N/A No significance for risk Breast cancer rs578481-G of miR-101 and its dysfunction is not significantly associated with breast cancer by using case-control analysis in 1064 breast cancer cases and 1073 cancer-free controls. -0.4 Genetic variations in the flanking regions of miR-101-2 are associated with increased risk of breast cancer. case-control analysis hsa-mir-101-1 miRNA Breast cancer -0.33 CACGTTAGCA(T > C,G)TGTACTTTTT chr1: 65063072 0.8039,0.1961,. 0.84921317533129459,0.15077886085626911,0.00000796381243628 Region score:0.47; TSS score:0.38; Unmatched score:0.28; Average GERP:-0.47063267326732666 GeneName:AL357078.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000231485; TranscriptID:ENST00000448344; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR101-1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000199135; TranscriptID:ENST00000362265; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000252280; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000468 25918132 NONHSAT098194.2 rs111361850 A N/A 74 european ancestry cases//824 european ancestry controls EFO_0000270 N/A Associate Diisocyanate-induced asthma rs111361850-A of NONHSAT098194.2 is significantly associated with the diisocyanate-induced asthma by using GWAS analysis in 74 european ancestry cases//824 european ancestry controls(p-value = 1E-6 ;OR = 34.08). 0.4 Genome-Wide Association Study Identifies Novel Loci Associated With Diisocyanate-Induced Occupational Asthma. genome-wide association analysis NONHSAT098194.2 lncRNA Asthma 0.33 AGGAGAAAAT(C > T)GCTTCCAAGT chr4: 123742201 0.9982,0.001797 0.99786569826707441,0.00213430173292558 Region score:0.49; TSS score:0.43; Unmatched score:0.47; Average GERP:2.223474257425743 GeneName:AC096732.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000226655; TranscriptID:ENST00000439565; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LINC01091; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000249464; TranscriptID:ENST00000511919; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000735478; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RPL21P50; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000228489; TranscriptID:ENST00000417698; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000469 26634245 NONHSAT213312.1 rs730954 A N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio rs730954-A of NONHSAT213312.1 is significantly associated with the post bronchodilator fev1/fvc ratio by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 2E-6 ;OR = 0.02). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT213312.1 lncRNA Pulmonary function measurement 0.33 TGGATACTCA(A > G,T)GACCCGCTGA chr7: 26535047 0.3594,0.6406,. 0.26987767584097859,0.73012232415902140,. Region score:0.24; TSS score:0.79; Unmatched score:0.78; Average GERP:1.8212970297029696 GeneName:AC004947.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000280255; TranscriptID:ENST00000623092; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:KIAA0087; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000122548; TranscriptID:ENST00000242109; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000819720; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000470 24861553 NONHSAT201188.1 rs16858082 T N/A 82,438 east asian ancestry individuals//4,301 south east asian ancestry individuals; up to 47,352 east asian ancestry individuals EFO_0001073 N/A Associate Body mass index rs16858082-T of NONHSAT201188.1 is significantly associated with the body mass index by using GWAS analysis in 82,438 east asian ancestry individuals//4,301 south east asian ancestry individuals; up to 47,352 east asian ancestry individuals(p-value = 4E-9 ;OR = 0.0324). 0.4 Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index. genome-wide association analysis NONHSAT201188.1 lncRNA Obesity 0.33 CTTCAGCTTT(T > C)GTAGCCCATT chr4: 45173787 0.5555,0.4445 0.57275739041794087,0.42724260958205912 Region score:0.37; TSS score:0.23; Unmatched score:0.03; Average GERP:-0.3980653465346535 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000471 24165912 NONHSAT017523.2 rs10832417 T N/A 1,840 han chinese ancestry individuals; 659 han chinese ancestry individuals EFO_0006340 N/A Associate Blood pressure measurement (high sodium intervention) rs10832417-T of NONHSAT017523.2 is significantly associated with the blood pressure measurement (high sodium intervention) by using GWAS analysis in 1,840 han chinese ancestry individuals; 659 han chinese ancestry individuals(p-value = 4E-7 ;OR = 1.05). 0.4 Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese. genome-wide association analysis NONHSAT017523.2 lncRNA Mean arterial pressure 0.33 AAAATGTTTG(T > G)TTTTTTTTTA chr11: 2631427 0.5803,0.4197 0.67533925840978593,0.32466074159021406 Region score:0.32; TSS score:0.11; Unmatched score:0.06; Average GERP:0.1034059405940593 GeneName:KCNQ1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000053918; TranscriptID:ENST00000155840; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:KCNQ1OT1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000269821; TranscriptID:ENST00000597346; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000472 25897834 NONHSAT083319.2 rs1210638 ? N/A 298 european ancestry cases//567 asian ancestry cases//1529 european and other ancestry cases EFO_0003761 serotonin reuptake inhibitors Associate Response to serotonin reuptake inhibitors in major depressive disorder rs1210638-? of NONHSAT083319.2 is significantly associated with the response to serotonin reuptake inhibitors in major depressive disorder by using GWAS analysis in 298 european ancestry cases//567 asian ancestry cases//1529 european and other ancestry cases(p-value = 6E-6 ;OR = 1.33). 0.4 The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response. genome-wide association analysis NONHSAT083319.2 lncRNA Unipolar depression 0.33 CTAGGTGACA(T > C)GTAGAACTTG chr22: 18994050 0.3305,0.6695 0.28133760193679918,0.71866239806320081 Region score:0.28; TSS score:0.33; Unmatched score:0.54; Average GERP:-0.07571134020618564 GeneName:AC007326.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000271275; TranscriptID:ENST00000604539; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0212; mirSVR-E:-12.03 | GeneName:DGCR5; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000237517; TranscriptID:ENST00000438934; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0212; mirSVR-E:-12.03 | GeneName:DGCR9; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000273032; TranscriptID:ENST00000609630; AnnoType:INTRONIC; mirSVR-Score:-0.0212; mirSVR-E:-12.03 | NCRV0000000473 23555923 hsa-mir-605 rs2043556 G N/A 191 patients with TNBC and 192 healthy female controls EFO_0005537 N/A no significance for risk triple-negative breast cancer rs2043556-G of hsa-mir-605 and its dysfunction is not significantly associated with Triple-negative breast cancer by using case-control analysis in 191 patients with TNBC and 192 healthy female controls -0.4 There is no association between microRNA gene polymorphisms and risk of triple negative breast cancer in a Chinese Han population. case-control analysis hsa-mir-605 miRNA Triple-negative breast cancer -0.33 AGATTTAGAA(T > C)CAAGTTAGGA chr10: 51299646 0.7404,0.2596 0.75316163353720693,0.24683836646279306 Region score:0.25; TSS score:0.08; Unmatched score:0.47; Average GERP:-0.3992871287128711 GeneName:AC069079.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000235279; TranscriptID:ENST00000419889; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR605; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207813; TranscriptID:ENST00000385078; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PRKG1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000185532; TranscriptID:ENST00000373980; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000474 22778062 SNORA51 rs6037245 T N/a N/a function N/A Not significant changes in the structure Function rs6037245-T of SNORA51 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORA51 snoRNA Function -0.049 CCATATACAC(C > T)TCAGCTCAGG chr20: 2655150 N/A RS=6037245;RSPOS=2655150;dbSNPBuildID=114;SSR=0;SAO=0;VP=0x0500000a0005000002000100;GENEINFO=SNORD57:26792|NOP56:10528|SNORD86:692201|SNORD56:26793|SNORA51:677831;WGT=1;VC=SNV;INT;R5;ASP Region score:0.45; TSS score:0.46; Unmatched score:0.72; Average GERP:3.0650950495049507 GeneName:IDH3B; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000101365; TranscriptID:ENST00000474315; AnnoType:DOWNSTREAM; mirSVR-Score:-0.9055; mirSVR-E:-13.44 | GeneName:MIR1292; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000284481; TranscriptID:ENST00000408135; AnnoType:DOWNSTREAM; mirSVR-Score:-0.9055; mirSVR-E:-13.44 | GeneName:NOP56; CADD-Score:2; Consquence:intron; GeneID:ENSG00000101361; TranscriptID:ENST00000329276; AnnoType:INTRONIC; mirSVR-Score:-0.9055; mirSVR-E:-13.44 | GeneName:SNORA51; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000271798; TranscriptID:ENST00000606420; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.9055; mirSVR-E:-13.44 | GeneName:SNORD110; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000221116; TranscriptID:ENST00000408189; AnnoType:DOWNSTREAM; mirSVR-Score:-0.9055; mirSVR-E:-13.44 | GeneName:SNORD56; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000229686; TranscriptID:ENST00000413522; AnnoType:UPSTREAM; mirSVR-Score:-0.9055; mirSVR-E:-13.44 | GeneName:SNORD57; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000226572; TranscriptID:ENST00000448188; AnnoType:UPSTREAM; mirSVR-Score:-0.9055; mirSVR-E:-13.44 | GeneName:SNORD86; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000212498; TranscriptID:ENST00000391196; AnnoType:UPSTREAM; mirSVR-Score:-0.9055; mirSVR-E:-13.44 | NCRV0000000475 23251661 NONHSAT066320.2 rs8103033 G N/A 815 hispanic children from 263 families EFO_0005190 N/A Associate Obesity-related traits rs8103033-G of NONHSAT066320.2 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 8E-6 ;OR = 0.04). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. genome-wide association analysis NONHSAT066320.2 lncRNA Urinary nitrogen measurement 0.33 CACAGAGGGA(G > A)ACAACAATGT chr19: 39679413 0.7464,0.2536 0.71815271406727828,0.28184728593272171 Region score:0.54; TSS score:0.56; Unmatched score:0.93; Average GERP:-0.2913695841584157 GeneName:LGALS17A; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000226025; TranscriptID:ENST00000412609; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.4695; mirSVR-E:-8.69 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000589931; AnnoType:REGULATORY; mirSVR-Score:-0.4695; mirSVR-E:-8.69 | NCRV0000000476 26502338 NONHSAT090131.2 rs9311676 C N/A 5,201 european ancestry cases//9,066 european ancestry controls; 2,018 european ancestry cases//6,925 european ancestry controls EFO_0002690 N/A Associate Systemic lupus erythematosus rs9311676-C of NONHSAT090131.2 is significantly associated with the systemic lupus erythematosus by using GWAS analysis in 5,201 european ancestry cases//9,066 european ancestry controls; 2,018 european ancestry cases//6,925 european ancestry controls(p-value = 3E-14 ;OR = 1.17). 0.4 Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus. genome-wide association analysis NONHSAT090131.2 lncRNA Systemic lupus erythematosus 0.451 CAGGGCCTCT(C > T)TCCTGACACT chr3: 58484624 0.7782,0.2218 0.67958397043832823,0.32041602956167176 Region score:0.66; TSS score:0.6; Unmatched score:0.46; Average GERP:1.2649485148514847 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000476 27399966 NONHSAT090131.2 rs9311676 ? N/A 1,659 chinese ancestry cases//3,398 chinese ancestry controls//4,036 european ancestry cases//6,959 european ancestry controls; 3,043 chinese ancestry cases//5,074 chinese ancestry controls//2,643 european ancestry cases//9,032 european ancestry controls EFO_0002690 N/A Associate Systemic lupus erythematosus rs9311676-? of NONHSAT090131.2 is significantly associated with the systemic lupus erythematosus by using GWAS analysis in 1,659 chinese ancestry cases//3,398 chinese ancestry controls//4,036 european ancestry cases//6,959 european ancestry controls; 3,043 chinese ancestry cases//5,074 chinese ancestry controls//2,643 european ancestry cases//9,032 european ancestry controls(p-value = 5E-6 ;OR = 1.14). 0.4 Genome-wide association meta-analysis in Chinese and European individuals identifies ten new loci associated with systemic lupus erythematosus. genome-wide association analysis NONHSAT090131.2 lncRNA Systemic lupus erythematosus 0.451 CAGGGCCTCT(C > T)TCCTGACACT chr3: 58484624 0.7782,0.2218 0.67958397043832823,0.32041602956167176 Region score:0.66; TSS score:0.6; Unmatched score:0.46; Average GERP:1.2649485148514847 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000477 27494321 NONHSAT179141.1 rs9961653 T N/A 127,898 british individuals; 89,283 individuals EFO_0004354 N/A Associate Chronotype rs9961653-T of NONHSAT179141.1 is significantly associated with the chronotype by using GWAS analysis in 127,898 british individuals; 89,283 individuals(p-value = 7E-10 ;OR = 0.023). 0.4 Genome-Wide Association Analyses in 128,266 Individuals Identifies New Morningness and Sleep Duration Loci. genome-wide association analysis NONHSAT179141.1 lncRNA Circadian rhythm 0.33 GAGATGACAA(T > C)GAAAGAACAG chr18: 59100439 0.611,0.389 0.55487863149847094,0.44512136850152905 Region score:0.29; TSS score:0.48; Unmatched score:0.14; Average GERP:0.05140297029702976 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000478 26830138 NONHSAT145730.2 rs139471609 A N/A 2,478 european ancestry cases//979 ancestry controls both from the same 1,070 families EFO_0000249 N/A Associate Alzheimer disease and age of onset rs139471609-A of NONHSAT145730.2 is significantly associated with the alzheimer disease and age of onset by using GWAS analysis in 2,478 european ancestry cases//979 ancestry controls both from the same 1,070 families(p-value = 6E-8 ;OR = 5.433). 0.4 Family-based association analyses of imputed genotypes reveal genome-wide significant association of Alzheimer's disease with OSBPL6, PTPRG, and PDCL3. genome-wide association analysis NONHSAT145730.2 lncRNA Alzheimers disease 0.33 ACTATAAACA(G > A)ATGAAACTTT chr17: 13791198 0.9988,0.001198 0.99431383792048929,0.00568616207951070 Region score:0.19; TSS score:0.09; Unmatched score:0.35; Average GERP:-0.11760396039603953 GeneName:COX10-AS1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000236088; TranscriptID:ENST00000423323; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000479 28441426 NONHSAT167589.1 rs9527561 A N/A 979 european ancestry individuals EFO_0003925 N/A Associate Residual cognition rs9527561-A of NONHSAT167589.1 is significantly associated with the residual cognition by using GWAS analysis in 979 european ancestry individuals(p-value = 2E-6 ;OR = 0.21). 0.4 Identification of genes associated with dissociation of cognitive performance and neuropathological burden: Multistep analysis of genetic, epigenetic, and transcriptional data. genome-wide association analysis NONHSAT167589.1 lncRNA Cognition 0.33 ATTAGCATGC(G > A)TATATTATAG chr13: 56955468 0.3672,0.6328 0.41015226809378185,0.58984773190621814 Region score:0.34; TSS score:0.3; Unmatched score:0.11; Average GERP:1.012625495049505 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000480 28159929 HOTAIR rs920778 T Recessive Several case-control studies EFO_0000311 N/A Increasing risk Cancer rs920778-T of HOTAIR and its dysfunction is significantly associated with the increasing risk of cancer by using meta-analysis in several case-control studies. 0.4 The HOTAIR, PRNCR1 and POLR2E polymorphisms are associated with cancer risk: a meta-analysis. meta-analysis HOTAIR lncRNA Cancer 0.181 TGAATGTTAC(G > A)GTTTCCTTCA chr12: 53966448 0.4401,0.5599 0.43194922273190621,0.56805077726809378 Region score:0.25; TSS score:0.53; Unmatched score:0.76; Average GERP:2.310435643564358 GeneName:AC012531.4; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000274817; TranscriptID:ENST00000616509; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC012531.5; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277129; TranscriptID:ENST00000611375; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOTAIR; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000228630; TranscriptID:ENST00000424518; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000458643; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01905; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000275589; TranscriptID:ENST00000611210; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01906; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000277994; TranscriptID:ENST00000611352; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000480 31759985 HOTAIR rs920778 ? N/A 1373 subjects (mean age 80) including 827 cancer positive and 546 cancer negative subjects EFO_0000311 N/A no significance for risk cancer rs920778-? of HOTAIR and its dysfunction is not significantly associated with Cancer by using two-stage association study in 1373 subjects (mean age 80) including 827 cancer positive and 546 cancer negative subjects -0.4 Association study of long non-coding RNA HOTAIR rs920778 polymorphism with the risk of cancer in an elderly Japanese population. two-stage association study HOTAIR lncRNA Cancer 0.181 TGAATGTTAC(G > A)GTTTCCTTCA chr12: 53966448 0.4401,0.5599 0.43194922273190621,0.56805077726809378 Region score:0.25; TSS score:0.53; Unmatched score:0.76; Average GERP:2.310435643564358 GeneName:AC012531.4; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000274817; TranscriptID:ENST00000616509; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC012531.5; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277129; TranscriptID:ENST00000611375; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOTAIR; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000228630; TranscriptID:ENST00000424518; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000458643; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01905; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000275589; TranscriptID:ENST00000611210; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01906; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000277994; TranscriptID:ENST00000611352; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000480 27965458 HOTAIR rs920778 T N/A 11 case-control studies EFO_0000311 N/A increasing risk cancer rs920778-T of HOTAIR and its dysfunction is significantly associated with the increasing risk of Cancer by using meta-analysis in 11 case-control studies 0.4 Association between the HOTAIR polymorphisms and cancer risk: an updated meta-analysis. meta-analysis HOTAIR lncRNA Cancer 0.181 TGAATGTTAC(G > A)GTTTCCTTCA chr12: 53966448 0.4401,0.5599 0.43194922273190621,0.56805077726809378 Region score:0.25; TSS score:0.53; Unmatched score:0.76; Average GERP:2.310435643564358 GeneName:AC012531.4; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000274817; TranscriptID:ENST00000616509; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC012531.5; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277129; TranscriptID:ENST00000611375; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOTAIR; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000228630; TranscriptID:ENST00000424518; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000458643; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01905; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000275589; TranscriptID:ENST00000611210; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01906; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000277994; TranscriptID:ENST00000611352; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000481 27863252 NONHSAT119344.2 rs2254594 A N/A 171,529 european ancestry individuals EFO_0005192 N/A Associate Red cell distribution width rs2254594-A of NONHSAT119344.2 is significantly associated with the red cell distribution width by using GWAS analysis in 171,529 european ancestry individuals(p-value = 3E-12 ;OR = 0.02475739). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT119344.2 lncRNA Red blood cell distribution width 0.33 CCTCATGCCA(G > A,T)TGGTACCTGG chr7: 17773990 0.3317,0.6683,. 0.40511117482161060,0.59447470693170234,0.00041411824668705 Region score:0.24; TSS score:0.16; Unmatched score:0.12; Average GERP:-0.6368744554455443 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000482 23111177 CDKN2B-AS1 rs573687 ? Dominant 976 POAG cases from the Glaucoma Genes and Environment (GLAUGEN) study and 1971 cases from the National Eye Institute Glaucoma Human Genetics Collaboration (NEIGHBOR) consortium EFO_0004190 N/A decreasing risk open-angle glaucoma rs573687-? of CDKN2B-AS1 and its dysfunction is significantly associated with the decreasing risk of Open-angle glaucoma by using case-control analysis in 976 POAG cases from the Glaucoma Genes and Environment (GLAUGEN) study and 1971 cases from the National Eye Institute Glaucoma Human Genetics Collaboration (NEIGHBOR) consortium 0.4 CDKN2B-AS1 genotype-glaucoma feature correlations in primary open-angle glaucoma patients from the United States. case-control analysis CDKN2B-AS1 lncRNA Open-angle glaucoma 0.33 TTATTTTTCA(G > A)TCTACACTGT chr9: 22011643 0.8267,0.1733 0.76081485728848114,0.23918514271151885 Region score:0.56; TSS score:0.32; Unmatched score:0.55; Average GERP:1.794623762376238 GeneName:AL359922.1; CADD-Score:2; Consquence:intron,NMD; GeneID:ENSG00000264545; TranscriptID:ENST00000404796; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CDKN2B-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000240498; TranscriptID:ENST00000428597; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CDKN2B; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000147883; TranscriptID:ENST00000276925; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:UBA52P6; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000215221; TranscriptID:ENST00000399822; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000483 23049088 NONHSAT150909.1 rs12032643 ? N/A 187 european ancestry cases//1064 european ancestry controls; EFO_0004207 N/A Associate Myopia (pathological) rs12032643-? of NONHSAT150909.1 is significantly associated with the myopia (pathological) by using GWAS analysis in 187 european ancestry cases//1064 european ancestry controls; (p-value = 1E-9 ;OR = ?). 0.4 A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population. genome-wide association analysis NONHSAT150909.1 lncRNA Pathological myopia 0.33 GCTAAATGAC(G > A,C)CATCATGTCT chr1: 248874237 0.8163,0.1837,. 0.84794692915392456,0.15198139653414882,0.00007167431192660 Region score:0.51; TSS score:0.27; Unmatched score:0.71; Average GERP:-0.42599999999999955 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000393407; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000484 21909110 NONHSAT189066.1 rs6015450 G N/A 74,064 european ancestry individuals; 48,607 european ancestry individuals EFO_0005763 N/A Associate Blood pressure rs6015450-G of NONHSAT189066.1 is significantly associated with the blood pressure by using GWAS analysis in 74,064 european ancestry individuals; 48,607 european ancestry individuals(p-value = 2E-6 ;OR = 0.352). 0.4 Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. genome-wide association analysis NONHSAT189066.1 lncRNA Pulse pressure measurement 0.33 GGAATGCCTT(A > G)TTATTGCCTC chr20: 59176062 0.9022,0.09784 0.86678930937818552,0.13321069062181447 Region score:0.39; TSS score:0.18; Unmatched score:0.12; Average GERP:-0.6414472277227723 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000656350; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ZNF831; CADD-Score:2; Consquence:intron; GeneID:ENSG00000124203; TranscriptID:ENST00000637017; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000485 23796952 CCAT2 rs6983267 G dominant 191 colorectal cancer samples and 70 non-neoplastic mucosa samples EFO_0005842 N/A increasing risk colorectal cancer rs6983267-G of CCAT2 and its dysfunction is significantly associated with the increasing risk of Colorectal cancer by using case-control analysis in 191 colorectal cancer samples and 70 non-neoplastic mucosa samples 1.4 CCAT2, a novel noncoding RNA mapping to 8q24, underlies metastatic progression and chromosomal instability in colon cancer. case-control analysis CCAT2 lncRNA Colorectal cancer 0.753 CAGATGAAAG(G > T)CACTGAGAAA chr8: 127401060 0.6098,0.3902 0.62955530071355759,0.37044469928644240 Region score:0.81; TSS score:0.84; Unmatched score:0.71; Average GERP:4.0005643564356435 GeneName:CASC8; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000246228; TranscriptID:ENST00000502082; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CCAT2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000280997; TranscriptID:ENST00000630920; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000333360; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000869328; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PCAT1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000253438; TranscriptID:ENST00000645215; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:POU5F1B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000212993; TranscriptID:ENST00000645438; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000486 27863252 NONHSAT185459.1 rs10199109 T N/A 166,066 european ancestry individuals EFO_0004309 N/A Associate Platelet count rs10199109-T of NONHSAT185459.1 is significantly associated with the platelet count by using GWAS analysis in 166,066 european ancestry individuals(p-value = 2E-18 ;OR = 0.03451906). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT185459.1 lncRNA Platelet count 0.33 GTGTCTTGAG(G > T)CGAGGGGCTC chr2: 120236957 0.2646,0.7354 0.24124777013251783,0.75875222986748216 Region score:0.34; TSS score:0.6; Unmatched score:0.49; Average GERP:-0.9853970297029707 GeneName:RALB; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000144118; TranscriptID:ENST00000447591; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000487 28115739 NONHSAT195091.1 rs4438643 G N/A 1,027 european american cases//383 african american cases EFO_0005611 N/A Associate Methadone dose in opioid dependence rs4438643-G of NONHSAT195091.1 is significantly associated with the methadone dose in opioid dependence by using GWAS analysis in 1,027 european american cases//383 african american cases(p-value = 7E-6 ;OR = 0.2085). 0.4 Genome-wide association study of therapeutic opioid dosing identifies a novel locus upstream of OPRM1. genome-wide association analysis NONHSAT195091.1 lncRNA Opioid dependence 0.33 ATTGGCATTA(C > G)AGCTTTAAAA chr3: 186445130 0.5855,0.4145 0.49219546381243628,0.50780453618756371 Region score:0.42; TSS score:0.29; Unmatched score:0.5; Average GERP:-0.006091287128712896 GeneName:LINC02020; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000234548; TranscriptID:ENST00000435548; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000488 23251661 NONHSAT005075.2 rs333960 G N/A 815 hispanic children from 263 families EFO_0004471 N/A Associate Obesity-related traits rs333960-G of NONHSAT005075.2 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 2E-7 ;OR = 0.04). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. genome-wide association analysis NONHSAT005075.2 lncRNA Insulin sensitivity measurement 0.33 TGGAGAACAA(C > A,T)GGAAGCAAAC chr1: 109896858 0.1763,.,0.8237 0.22234964322120285,0.00176000254841997,0.77589035423037716 Region score:0.39; TSS score:0.56; Unmatched score:0.51; Average GERP:-0.5867837623762375 GeneName:AL450468.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000261055; TranscriptID:ENST00000565955; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000489 29228715 NONHSAT108540.2 rs1362126 ? N/A 978 austrian ancestry colorectal cancer cases//636 austrian ancestry advanced colorectal adenoma cases//4,294 european ancestry controls EFO_0005842 N/A Associate Colorectal cancer rs1362126-? of NONHSAT108540.2 is significantly associated with the colorectal cancer by using GWAS analysis in 978 austrian ancestry colorectal cancer cases//636 austrian ancestry advanced colorectal adenoma cases//4,294 european ancestry controls(p-value = 3E-7 ;OR = 1.3908206). 0.4 Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas. genome-wide association analysis NONHSAT108540.2 lncRNA Colorectal cancer 0.33 CTGGGGTTGG(G > A)AGGCTCAGTA chr6: 29723242 0.6851,0.3149 0.65120094291539245,0.34879905708460754 Region score:0.45; TSS score:0.46; Unmatched score:0.85; Average GERP:-0.3312495049504951 GeneName:AL645939.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000225864; TranscriptID:ENST00000427340; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HLA-F-AS1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000214922; TranscriptID:ENST00000399247; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HLA-F; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000204642; TranscriptID:ENST00000259951; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000195326; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RPL23AP1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000239257; TranscriptID:ENST00000428990; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000490 25629512 NONHSAT209143.1 rs2295334 ? N/A 2,119 east asian ancestry cases//5,691 east asian ancestry controls; 4,226 east asian ancestry cases//10,289 east asian ancestry controls EFO_0004683 N/A Associate Exudative age-related macular degeneration rs2295334-? of NONHSAT209143.1 is significantly associated with the exudative age-related macular degeneration by using GWAS analysis in 2,119 east asian ancestry cases//5,691 east asian ancestry controls; 4,226 east asian ancestry cases//10,289 east asian ancestry controls(p-value = 6E-18 ;OR = 1.28). 0.4 New loci and coding variants confer risk for age-related macular degeneration in East Asians. genome-wide association analysis NONHSAT209143.1 lncRNA Wet macular degeneration 0.33 TGTCATCCGC(G > A)GCGCTCCGCG chr6: 44003090 0.9077,0.09225 0.95426382517838939,0.04573617482161060 Region score:0.28; TSS score:0.38; Unmatched score:0.82; Average GERP:1.1635138613861387 GeneName:AL109615.3; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000237686; TranscriptID:ENST00000422059; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:C6orf223; CADD-Score:5; Consquence:synonymous; GeneID:ENSG00000181577; TranscriptID:ENST00000336600; AnnoType:SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000791239; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000791242; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000491 27863252 NONHSAT093154.2 rs9811216 C N/A 172,275 european ancestry individuals EFO_0004842 N/A Associate Eosinophil counts rs9811216-C of NONHSAT093154.2 is significantly associated with the eosinophil counts by using GWAS analysis in 172,275 european ancestry individuals(p-value = 2E-12 ;OR = 0.02869912). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT093154.2 lncRNA Eosinophil count 0.33 CTCCTCATGT(T > C)ACCGCCCGCT chr3: 169769713 0.6166,0.3834 0.68753185524974515,0.31246814475025484 Region score:0.5; TSS score:0.43; Unmatched score:0.9; Average GERP:-2.3033970297029707 GeneName:AC078802.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000269889; TranscriptID:ENST00000602879; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ACTRT3; CADD-Score:3; Consquence:5_prime_UTR; GeneID:ENSG00000184378; TranscriptID:ENST00000330368; AnnoType:5PRIME_UTR; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYNN; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000085274; TranscriptID:ENST00000349841; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000161539; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000708233; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF00024; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277925; TranscriptID:ENST00000363312; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TERC; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000270141; TranscriptID:ENST00000602385; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000492 24951543 NONHSAT213625.1 rs1179624 T N/A 2,369 malay ancestry individuals//2,200 indian ancestry individuals//2,571 chinese ancestry individuals HP_0011142 N/A Associate Age-related nuclear cataracts rs1179624-T of NONHSAT213625.1 is significantly associated with the age-related nuclear cataracts by using GWAS analysis in 2,369 malay ancestry individuals//2,200 indian ancestry individuals//2,571 chinese ancestry individuals(p-value = 5E-6 ;OR = 0.06). 0.4 Meta-analysis of genome-wide association studies in multiethnic Asians identifies two loci for age-related nuclear cataract. genome-wide association analysis NONHSAT213625.1 lncRNA Age-related nuclear cataract 0.33 ATGGTGAATC(C > T)CTGTCTCTTA chr7: 75625897 0.7454,0.2546 0.73525898318042813,0.26474101681957186 Region score:0.19; TSS score:0.07; Unmatched score:0.04; Average GERP:0.00967524752475249 GeneName:AC004491.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000279996; TranscriptID:ENST00000623029; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HIP1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000127946; TranscriptID:ENST00000336926; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000493 27027436 H19 rs3024270 G Dominant 1,147 patients with colorectal cancer and 1,203 cancer-free controls. in a chinese population. EFO_0005842 N/A No significance for risk Colorectal cancer rs3024270-G of H19 and its dysfunction is not significantly associated with colorectal cancer by using case-control analysis in 1,147 patients with colorectal cancer and 1,203 cancer-free controls. in a Chinese population -0.4 Association of genetic variants in lncRNA H19 with risk of colorectal cancer in a Chinese population. case-control analysis H19 lncRNA Colorectal cancer -0.33 AGACAGAGGT(C > G,T)GGGGCAGTGA chr11: 1996209 N/A 1 Region score:0.33; TSS score:0.35; Unmatched score:0.77; Average GERP:-1.5973762376237624 GeneName:H19; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000130600; TranscriptID:ENST00000414790; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LINC01219; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000232987; TranscriptID:ENST00000418612; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR675; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000284010; TranscriptID:ENST00000390168; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000035875; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01972; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000275266; TranscriptID:ENST00000617997; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01973; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000274866; TranscriptID:ENST00000620857; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000494 22331829 NONHSAT219777.1 rs1875620 ? N/A 6,989 european ancestry individuals EFO_0007804 N/A Associate Response to statins (ldl cholesterol change) rs1875620-? of NONHSAT219777.1 is significantly associated with the response to statins (ldl cholesterol change) by using GWAS analysis in 6,989 european ancestry individuals(p-value = 7E-7 ;OR = 2.8). 0.4 Genetic determinants of statin-induced low-density lipoprotein cholesterol reduction: the Justification for the Use of Statins in Prevention: an Intervention Trial Evaluating Rosuvastatin (JUPITER) trial. genome-wide association analysis NONHSAT219777.1 lncRNA Ldl cholesterol change measurement 0.33 GAGCCCACAA(G > A)TATTTTAGTT chr9: 88925144 0.6358,0.3642 0.58199541284403669,0.41800458715596330 Region score:0.25; TSS score:0.18; Unmatched score:0.01; Average GERP:-1.066631683168317 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000495 27863252 NONHSAT207279.1 rs16895831 T N/A 170,536 european ancestry individuals EFO_0007996 N/A Associate Eosinophil percentage of granulocytes rs16895831-T of NONHSAT207279.1 is significantly associated with the eosinophil percentage of granulocytes by using GWAS analysis in 170,536 european ancestry individuals(p-value = 1E-13 ;OR = 0.03316487). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT207279.1 lncRNA Eosinophil percentage of granulocytes 0.33 TGGCTGCCGG(C > T)TGTGGATTCC chr6: 42548053 0.8033,0.1967 0.79576803007135575,0.20423196992864424 Region score:0.39; TSS score:0.39; Unmatched score:0.52; Average GERP:0.009751485148514826 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000790835; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000496 26686553 NONHSAT018664.2 rs3809060 G N/A 5,295 european ancestry cases//67,510 european ancestry controls; 9,701 european ancestry cases//82,743 european ancestry controls HP_0000023 N/A Associate Inguinal hernia rs3809060-G of NONHSAT018664.2 is significantly associated with the inguinal hernia by using GWAS analysis in 5,295 european ancestry cases//67,510 european ancestry controls; 9,701 european ancestry cases//82,743 european ancestry controls(p-value = 4E-14 ;OR = 1.11). 0.4 A genome-wide association study identifies four novel susceptibility loci underlying inguinal hernia. genome-wide association analysis NONHSAT018664.2 lncRNA Inguinal hernia 0.33 TTGACTTTGC(G > T)TCGTCTCCAC chr11: 32437261 0.3792,0.6208 0.49603402140672782,0.50396597859327217 Region score:0.2; TSS score:0.43; Unmatched score:0.63; Average GERP:-1.4557722772277222 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000427352; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF02203; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000278822; TranscriptID:ENST00000619639; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF02204; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000273677; TranscriptID:ENST00000613208; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF02205; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000278045; TranscriptID:ENST00000613262; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF02208; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000276530; TranscriptID:ENST00000614919; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF02209; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000273908; TranscriptID:ENST00000426618; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF02210; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277119; TranscriptID:ENST00000615200; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:WT1-AS; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000183242; TranscriptID:ENST00000395900; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:WT1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000184937; TranscriptID:ENST00000332351; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000497 21533024 NONHSAT061043.2 rs5498 G N/A 22,435 european ancestry female individuals; 9,813 individuals HP_0001658 N/A Associate Soluble icam-1 rs5498-G of NONHSAT061043.2 is significantly associated with the soluble icam-1 by using GWAS analysis in 22,435 european ancestry female individuals; 9,813 individuals(p-value = 6E-89 ;OR = 13.8). 0.4 Genome-wide association analysis of soluble ICAM-1 concentration reveals novel associations at the NFKBIK, PNPLA3, RELA, and SH2B3 loci. genome-wide association analysis NONHSAT061043.2 lncRNA Myocardial infarction 0.451 GGTCACCCGC(A > G)AGGTGACCGT chr19: 10285007 0.6412,0.3588 0.64197884811416921,0.35802115188583078 Region score:0.31; TSS score:0.24; Unmatched score:0.46; Average GERP:-1.2877524752475251 GeneName:AC011511.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000266978; TranscriptID:ENST00000592893; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC011511.5; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000267607; TranscriptID:ENST00000589379; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ICAM1; CADD-Score:7; Consquence:missense; GeneID:ENSG00000090339; TranscriptID:ENST00000264832; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ICAM4; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000105371; TranscriptID:ENST00000340992; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ICAM5; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000105376; TranscriptID:ENST00000221980; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000497 18604267 NONHSAT061043.2 rs5498 A N/A 4,570 european ancestry female individuals; 2,008 european ancestry female individuals HP_0001658 N/A Associate Soluble icam-1 rs5498-A of NONHSAT061043.2 is significantly associated with the soluble icam-1 by using GWAS analysis in 4,570 european ancestry female individuals; 2,008 european ancestry female individuals(p-value = 5E-25 ;OR = 13.22). 0.4 Novel association of ABO histo-blood group antigen with soluble ICAM-1: results of a genome-wide association study of 6,578 women. genome-wide association analysis NONHSAT061043.2 lncRNA Myocardial infarction 0.451 GGTCACCCGC(A > G)AGGTGACCGT chr19: 10285007 0.6412,0.3588 0.64197884811416921,0.35802115188583078 Region score:0.31; TSS score:0.24; Unmatched score:0.46; Average GERP:-1.2877524752475251 GeneName:AC011511.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000266978; TranscriptID:ENST00000592893; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC011511.5; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000267607; TranscriptID:ENST00000589379; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ICAM1; CADD-Score:7; Consquence:missense; GeneID:ENSG00000090339; TranscriptID:ENST00000264832; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ICAM4; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000105371; TranscriptID:ENST00000340992; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ICAM5; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000105376; TranscriptID:ENST00000221980; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000498 27863252 NONHSAT148900.1 rs11211480 G N/A 172,332 european ancestry individuals EFO_0004527 N/A Associate Mean corpuscular hemoglobin rs11211480-G of NONHSAT148900.1 is significantly associated with the mean corpuscular hemoglobin by using GWAS analysis in 172,332 european ancestry individuals(p-value = 8E-17 ;OR = 0.02955099). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT148900.1 lncRNA Mean corpuscular hemoglobin 0.33 TTGCCACTAG(A > G)CACCCAGGAT chr1: 47227548 0.7192,0.2808 0.61120667686034658,0.38879332313965341 Region score:0.2; TSS score:0.57; Unmatched score:0.71; Average GERP:-0.7682050495049506 GeneName:AL135960.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000226252; TranscriptID:ENST00000422216; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TAL1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000162367; TranscriptID:ENST00000294339; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000499 26634245 NONHSAT168270.1 rs146750542 A N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio rs146750542-A of NONHSAT168270.1 is significantly associated with the post bronchodilator fev1/fvc ratio by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 3E-6 ;OR = 0.214). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT168270.1 lncRNA Pulmonary function measurement 0.33 GTGGACAATC(G > A)GAACTCAAAT chr14: 32030965 0.995,0.004992 0.99965755606523955,0.00034244393476044 Region score:0.53; TSS score:0.3; Unmatched score:0.18; Average GERP:0.07537623762376232 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000500 25673413 NONHSAT169755.1 rs709400 A N/A up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals EFO_0001073 N/A Associate Body mass index rs709400-A of NONHSAT169755.1 is significantly associated with the body mass index by using GWAS analysis in up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals(p-value = 3E-6 ;OR = 0.019). 0.4 Genetic studies of body mass index yield new insights for obesity biology. genome-wide association analysis NONHSAT169755.1 lncRNA Obesity 0.451 CTGGTTAATG(A > G)TAATCGTCCC chr14: 103683138 0.7794,0.2206 0.70490889398572884,0.29509110601427115 Region score:0.29; TSS score:0.12; Unmatched score:0.37; Average GERP:-1.3440702970297032 GeneName:AL049840.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000246451; TranscriptID:ENST00000498989; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AL049840.5; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000270108; TranscriptID:ENST00000602827; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AL139300.1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000256500; TranscriptID:ENST00000472726; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:KLC1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000126214; TranscriptID:ENST00000452929; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000500 28892062 NONHSAT169755.1 rs709400 G N/A up to 72,390 japanese ancestry women//up to 85,894 japanese ancestry men; up to 10,048 japanese ancestry women//up to 5,098 japanese ancestry men//up to 181,999 european ancestry women//up to 140,155 european ancestry controls EFO_0001073 N/A Associate Body mass index rs709400-G of NONHSAT169755.1 is significantly associated with the body mass index by using GWAS analysis in up to 72,390 japanese ancestry women//up to 85,894 japanese ancestry men; up to 10,048 japanese ancestry women//up to 5,098 japanese ancestry men//up to 181,999 european ancestry women//up to 140,155 european ancestry controls(p-value = 2E-8 ;OR = 0.015). 0.4 Genome-wide association study identifies 112 new loci for body mass index in the Japanese population. genome-wide association analysis NONHSAT169755.1 lncRNA Obesity 0.451 CTGGTTAATG(A > G)TAATCGTCCC chr14: 103683138 0.7794,0.2206 0.70490889398572884,0.29509110601427115 Region score:0.29; TSS score:0.12; Unmatched score:0.37; Average GERP:-1.3440702970297032 GeneName:AL049840.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000246451; TranscriptID:ENST00000498989; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AL049840.5; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000270108; TranscriptID:ENST00000602827; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AL139300.1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000256500; TranscriptID:ENST00000472726; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:KLC1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000126214; TranscriptID:ENST00000452929; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000501 24204828 NONHSAT204194.1 rs30360 G N/A 820 european ancestry individuals EFO_0001360 dietary factor interaction Associate Fasting insulin (dietary factor interaction) rs30360-G of NONHSAT204194.1 is significantly associated with the fasting insulin (dietary factor interaction) by using GWAS analysis in 820 european ancestry individuals(p-value = 9E-7 ;OR = ?). 0.4 Genome-wide contribution of genotype by environment interaction to variation of diabetes-related traits. genome-wide association analysis NONHSAT204194.1 lncRNA Type ii diabetes mellitus 0.33 AATGTATGAT(G > T)CCGAGTAGTT chr5: 56537692 0.3425,0.6575 0.30914723496432212,0.69085276503567787 Region score:0.22; TSS score:0.04; Unmatched score:0.46; Average GERP:0.04775742574257425 GeneName:AC022431.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000234553; TranscriptID:ENST00000431789; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:C5orf67; CADD-Score:2; Consquence:intron; GeneID:ENSG00000225940; TranscriptID:ENST00000438651; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000502 28898252 NONHSAT159582.1 rs11224302 C N/A 88,355 european ancestry individuals,18,472 east asian ancestry individuals//7,572 south asian ancestry individuals//7,564 african american individuals; 33,238 european ancestry individuals// 2,366 east asian ancestry individuals//1,302 south asian ancestry individuals EFO_0001360 N/A Associate Glycated hemoglobin levels rs11224302-C of NONHSAT159582.1 is significantly associated with the glycated hemoglobin levels by using GWAS analysis in 88,355 european ancestry individuals,18,472 east asian ancestry individuals//7,572 south asian ancestry individuals//7,564 african american individuals; 33,238 european ancestry individuals// 2,366 east asian ancestry individuals//1,302 south asian ancestry individuals(p-value = 5E-7 ;OR = 0.0146). 0.4 Impact of common genetic determinants of Hemoglobin A1c on type 2 diabetes risk and diagnosis in ancestrally diverse populations: A transethnic genome-wide meta-analysis. genome-wide association analysis NONHSAT159582.1 lncRNA Type ii diabetes mellitus 0.33 TTGCAATGAC(C > G,T)CTGGGATGTC chr11: 100585873 0.8918,.,0.1082 0.91575879204892966,0.00000796381243628,0.08423324413863404 Region score:0.32; TSS score:0.17; Unmatched score:0.01; Average GERP:-0.8793188118811884 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000440180; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000503 20041166 NONHSAT023594.2 rs12274302 ? N/A 2,362 european ancestry cases EFO_0000180 N/A Associate Hiv-1 control rs12274302-? of NONHSAT023594.2 is significantly associated with the hiv-1 control by using GWAS analysis in 2,362 european ancestry cases(p-value = 4E-7 ;OR = ?). 0.4 Common genetic variation and the control of HIV-1 in humans. genome-wide association analysis NONHSAT023594.2 lncRNA Hiv-1 infection 0.33 CGCATCTCTA(C > A,G,T)AGTCAACAGT chr11: 90853732 0.9361,.,.,0.0639 0.94359231651376146,0.00000796381243628,0.00005574668705402,0.05634397298674821 Region score:0.21; TSS score:0.22; Unmatched score:0.35; Average GERP:-1.3037712871287122 GeneName:DISC1FP1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000261645; TranscriptID:ENST00000569513; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000504 28739976 NONHSAT221423.1 rs6271 T N/A 150,134 european ancestry individuals; 87,359 european ancestry individuals//140,886 european and unknown ancestry individuals EFO_0006336 N/A Associate Diastolic blood pressure rs6271-T of NONHSAT221423.1 is significantly associated with the diastolic blood pressure by using GWAS analysis in 150,134 european ancestry individuals; 87,359 european ancestry individuals//140,886 european and unknown ancestry individuals(p-value = 4E-7 ;OR = 0.51). 0.4 Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.LID - HYPERTENSIONAHA.117.09438 [pii]LID - 10.1161/HYPERTENSIONAHA.117.09438 [doi]AB - Elevated blood pressure genome-wide association analysis NONHSAT221423.1 lncRNA Diastolic blood pressure 0.33 CTCCTTCAAC(C > T)GCGACGTACT chr9: 133657152 0.9792,0.02077 0.95440717380224260,0.04559282619775739 Region score:0.29; TSS score:0.2; Unmatched score:0.55; Average GERP:2.0034930693069293 GeneName:DBH-AS1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000225756; TranscriptID:ENST00000425189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:DBH; CADD-Score:7; Consquence:missense; GeneID:ENSG00000123454; TranscriptID:ENST00000393056; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000505 24165912 NONHSAT217864.1 rs2627282 A N/A 1,840 han chinese ancestry individuals; 659 han chinese ancestry individuals EFO_0006336 N/A Associate Blood pressure measurement (high sodium intervention) rs2627282-A of NONHSAT217864.1 is significantly associated with the blood pressure measurement (high sodium intervention) by using GWAS analysis in 1,840 han chinese ancestry individuals; 659 han chinese ancestry individuals(p-value = 6E-7 ;OR = 2.29). 0.4 Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese. genome-wide association analysis NONHSAT217864.1 lncRNA Diastolic blood pressure 0.33 ATAAAGCTCT(G > A)TATTACAATT chr8: 2923434 0.8642,0.1358 0.76897776503567787,0.23102223496432212 Region score:0.27; TSS score:0.13; Unmatched score:0.05; Average GERP:-0.9995554455445543 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000506 19451621 NONHSAT181637.1 rs3099950 ? N/A 1,821 cases//2,258 controls; 538 cases//556 controls EFO_0000253 N/A Associate Amyotrophic lateral sclerosis rs3099950-? of NONHSAT181637.1 is significantly associated with the amyotrophic lateral sclerosis by using GWAS analysis in 1,821 cases//2,258 controls; 538 cases//556 controls(p-value = 8E-6 ;OR = ?). 0.4 Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis. genome-wide association analysis NONHSAT181637.1 lncRNA Amyotrophic lateral sclerosis 0.33 TTGCAGGGTG(G > A)AAGGTGAAGG chr2: 38882417 0.9303,0.06969 0.92086359582059123,0.07913640417940876 Region score:0.47; TSS score:0.43; Unmatched score:0.48; Average GERP:1.6756435643564354 GeneName:MORN2; CADD-Score:7; Consquence:missense; GeneID:ENSG00000188010; TranscriptID:ENST00000410014; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RNU6-851P; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207295; TranscriptID:ENST00000384565; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000507 28448500 NONHSAT113087.2 rs943005 ? N/A 2,518 african american women//86,278 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//55,137 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men EFO_0001073 joint analysis main effects and physical activity interaction Associate Body mass index (joint analysis main effects and physical activity interaction) rs943005-? of NONHSAT113087.2 is significantly associated with the body mass index (joint analysis main effects and physical activity interaction) by using GWAS analysis in 2,518 african american women//86,278 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//55,137 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men(p-value = 4E-8 ;OR = ?). 0.4 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. genome-wide association analysis NONHSAT113087.2 lncRNA Obesity 0.451 GACAGGGCTA(C > T)ACTAAATAAA chr6: 50898107 0.8257,0.1743 0.84124139908256880,0.15875860091743119 Region score:0.43; TSS score:0.02; Unmatched score:0.49; Average GERP:0.11490099009900978 GeneName:AL049693.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000216913; TranscriptID:ENST00000402760; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000507 28448500 NONHSAT113087.2 rs943005 T N/A 2,518 african american women//86,278 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//55,137 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men EFO_0001073 joint analysis main effects and physical activity interaction Associate Body mass index rs943005-T of NONHSAT113087.2 is significantly associated with the body mass index by using GWAS analysis in 2,518 african american women//86,278 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//55,137 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men(p-value = 1E-8 ;OR = 0.0389). 0.4 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. genome-wide association analysis NONHSAT113087.2 lncRNA Obesity 0.451 GACAGGGCTA(C > T)ACTAAATAAA chr6: 50898107 0.8257,0.1743 0.84124139908256880,0.15875860091743119 Region score:0.43; TSS score:0.02; Unmatched score:0.49; Average GERP:0.11490099009900978 GeneName:AL049693.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000216913; TranscriptID:ENST00000402760; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000508 29059683 NONHSAT179207.1 rs17080623 G N/A 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls EFO_0000305 N/A Associate Breast cancer rs17080623-G of NONHSAT179207.1 is significantly associated with the breast cancer by using GWAS analysis in 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls(p-value = 5E-6 ;OR = 0.0344). 0.4 Association analysis identifies 65 new breast cancer risk loci. genome-wide association analysis NONHSAT179207.1 lncRNA Breast cancer 0.33 GTCCCATATT(A > G)GCCTGTTTTC chr18: 69220817 0.7949,0.2051 0.76618246687054026,0.23381753312945973 Region score:0.43; TSS score:0.22; Unmatched score:0.04; Average GERP:-0.2861203 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000509 19851984 mir26a-1 rs7372209 T N/a 136 opl patients and 136 matched controls EFO_0006566 N/A Increasing risk Oral premalignant lesions rs7372209-T of mir26a-1 and its dysfunction is significantly associated with the increasing risk of oral premalignant lesions by using case-control analysis in 136 OPL patients and 136 matched controls. 0.4 Genetic variation in MicroRNA genes and risk of oral premalignant lesions. case-control analysis hsa-mir-26a-1 miRNA Dysplastic oral keratinocyte 0.33 ATTAATCCTT(T > C)GTACCACGTG chr3: 37969217 0.2015,0.7985 0.21918800968399592,0.78081199031600407 Region score:0.25; TSS score:0.19; Unmatched score:0.58; Average GERP:0.42166831683168315 GeneName:CTDSPL; CADD-Score:2; Consquence:intron; GeneID:ENSG00000144677; TranscriptID:ENST00000273179; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR26A1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000199075; TranscriptID:ENST00000362205; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000682913; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000510 24121790 NONHSAT194847.1 rs7632500 C N/A 3,928 european ancestry cases//3,207 european ancestry controls; 1,636 european ancestry cases//6,911 european ancestry controls EFO_0000478 N/A Associate Digestive system disease (barrett's esophagus and esophageal adenocarcinoma combined) rs7632500-C of NONHSAT194847.1 is significantly associated with the digestive system disease (barrett's esophagus and esophageal adenocarcinoma combined) by using GWAS analysis in 3,928 european ancestry cases//3,207 european ancestry controls; 1,636 european ancestry cases//6,911 european ancestry controls(p-value = 1E-6 ;OR = 1.37). 0.4 A genome-wide association study identifies new susceptibility loci for esophageal adenocarcinoma and Barrett's esophagus. genome-wide association analysis NONHSAT194847.1 lncRNA Esophageal adenocancer 0.33 TATAACACAT(A > G)GATGGGAAGA chr3: 168007561 0.8055,0.1945 0.81852064220183486,0.18147935779816513 Region score:0.31; TSS score:0.25; Unmatched score:0.14; Average GERP:-0.8741059504950496 GeneName:GOLIM4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000173905; TranscriptID:ENST00000470487; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000511 26316170 NONHSAT207123.1 rs3129716 ? N/A 661 european ancestry cases//487 european ancestry controls; 4,467 european ancestry cases//9,114 european ancestry controls EFO_0002690 N/A Associate Systemic lupus erythematosus rs3129716-? of NONHSAT207123.1 is significantly associated with the systemic lupus erythematosus by using GWAS analysis in 661 european ancestry cases//487 european ancestry controls; 4,467 european ancestry cases//9,114 european ancestry controls(p-value = 4E-9 ;OR = ?). 0.4 Identification of a New Susceptibility Locus for Systemic Lupus Erythematosus on Chromosome 12 in Individuals of European Ancestry. genome-wide association analysis NONHSAT207123.1 lncRNA Systemic lupus erythematosus 0.33 CTTTGGGATG(T > C)GTTTTCAGTC chr6: 32689659 0.9351,0.0649 0.90175840978593272,0.09824159021406727 Region score:0.37; TSS score:0.39; Unmatched score:0.4; Average GERP:-0.09934653465346555 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000512 26053186 NONHSAT121601.2 rs2908197 ? N/A 362 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//438 european ancestry current smoker individuals//449 latino current smoker individuals//704 japanese ancestry current smoker individuals EFO_0001071 in smokers Associate 3-hydroxypropylmercapturic acid levels in smokers rs2908197-? of NONHSAT121601.2 is significantly associated with the 3-hydroxypropylmercapturic acid levels in smokers by using GWAS analysis in 362 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//438 european ancestry current smoker individuals//449 latino current smoker individuals//704 japanese ancestry current smoker individuals(p-value = 2E-6 ;OR = 0.1227). 0.4 Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer. genome-wide association analysis NONHSAT121601.2 lncRNA Lung cancer 0.33 GTCTGGCACT(A > G)GCCCTCAAAG chr7: 76307732 0.3127,0.6873 0.41315462538226299,0.58684537461773700 Region score:0.25; TSS score:0.38; Unmatched score:0.35; Average GERP:-0.2652003960396039 GeneName:HSPB1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000106211; TranscriptID:ENST00000248553; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000513 21782286 NONHSAT060562.2 rs10412199 G N/A 16,995 european ancestry individuals GO_0007568 N/A Associate Aging (time to event) rs10412199-G of NONHSAT060562.2 is significantly associated with the aging (time to event) by using GWAS analysis in 16,995 european ancestry individuals(p-value = 3E-6 ;OR = 1.1). 0.4 A genome-wide association study of aging. genome-wide association analysis NONHSAT060562.2 lncRNA Aging 0.33 GCTGGGCCAC(G > A)ACCTGCACCG chr19: 3927773 0.5294,0.4706 0.61208269622833843,0.38791730377166156 Region score:0.34; TSS score:0.67; Unmatched score:0.73; Average GERP:-0.9993052475247526 GeneName:ATCAY; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000167654; TranscriptID:ENST00000450849; AnnoType:3PRIME_UTR; mirSVR-Score:-0.0151; mirSVR-E:-21.93 | NCRV0000000514 27863252 NONHSAT153166.1 rs4626924 T N/A 170,494 european ancestry individuals EFO_0007989 N/A Associate Monocyte percentage of white cells rs4626924-T of NONHSAT153166.1 is significantly associated with the monocyte percentage of white cells by using GWAS analysis in 170,494 european ancestry individuals(p-value = 5E-19 ;OR = 0.03237743). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT153166.1 lncRNA Monocypte percentage of leukocytes 0.33 AAAGCAGTTA(C > G,T)AAATCCTGAC chr1: 234773551 0.3474,.,0.6526 0.43785837155963302,0.00524018858307849,0.55690143985728848 Region score:0.44; TSS score:0.53; Unmatched score:0.23; Average GERP:0.20016930693069276 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000515 27863252 NONHSAT205599.1 rs972761 C N/A 173,039 european ancestry individuals EFO_0004348 N/A Associate Hematocrit rs972761-C of NONHSAT205599.1 is significantly associated with the hematocrit by using GWAS analysis in 173,039 european ancestry individuals(p-value = 2E-14 ;OR = 0.02745016). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT205599.1 lncRNA Hematocrit 0.33 AATGATGCTA(T > C)ATGACTTCTT chr5: 34507680 0.6292,0.3708 0.61695654943934760,0.38304345056065239 Region score:0.3; TSS score:0.18; Unmatched score:0.08; Average GERP:-0.1808237623762376 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000516 22778062 SNORD116-18 rs3803328 A N/a N/a function N/A Not significant changes in the structure Function rs3803328-A of SNORD116-18 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD116-18 snoRNA Function -0.049 GATGACTTCC(T > A,C)TATATACATT chr15: 25085403 0.362,0.638,. 0.30711646279306829,0.69010416666666666,0.00277937054026503 Region score:0.55; TSS score:0.06; Unmatched score:0.38; Average GERP:0.34300099009901003 GeneName:AC124312.3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000261069; TranscriptID:ENST00000567527; AnnoType:UPSTREAM; mirSVR-Score:-0.5078; mirSVR-E:-10.54 | GeneName:SNHG14; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000224078; TranscriptID:ENST00000640631; AnnoType:INTRONIC; mirSVR-Score:-0.5078; mirSVR-E:-10.54 | GeneName:SNORD116-15; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207174; TranscriptID:ENST00000384445; AnnoType:DOWNSTREAM; mirSVR-Score:-0.5078; mirSVR-E:-10.54 | GeneName:SNORD116-16; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207263; TranscriptID:ENST00000384533; AnnoType:DOWNSTREAM; mirSVR-Score:-0.5078; mirSVR-E:-10.54 | GeneName:SNORD116-17; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000206656; TranscriptID:ENST00000383929; AnnoType:DOWNSTREAM; mirSVR-Score:-0.5078; mirSVR-E:-10.54 | GeneName:SNORD116-18; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000206688; TranscriptID:ENST00000383961; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.5078; mirSVR-E:-10.54 | GeneName:SNORD116-19; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207460; TranscriptID:ENST00000384729; AnnoType:UPSTREAM; mirSVR-Score:-0.5078; mirSVR-E:-10.54 | GeneName:SNORD116-20; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000278715; TranscriptID:ENST00000384529; AnnoType:UPSTREAM; mirSVR-Score:-0.5078; mirSVR-E:-10.54 | GeneName:SNORD116-21; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277785; TranscriptID:ENST00000384507; AnnoType:UPSTREAM; mirSVR-Score:-0.5078; mirSVR-E:-10.54 | GeneName:SNORD116-22; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000275127; TranscriptID:ENST00000384430; AnnoType:UPSTREAM; mirSVR-Score:-0.5078; mirSVR-E:-10.54 | NCRV0000000517 19343178 NONHSAT215817.1 rs7815788 ? N/A 12,611 european ancestry individuals; 7,187 european ancestry individuals EFO_0004339 N/A Associate Height rs7815788-? of NONHSAT215817.1 is significantly associated with the height by using GWAS analysis in 12,611 european ancestry individuals; 7,187 european ancestry individuals(p-value = 5E-6 ;OR = 0.07). 0.4 Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size. genome-wide association analysis NONHSAT215817.1 lncRNA Body height 0.33 ACCCCCAAAA(C > T)TTTAATTACT chr8: 56266461 0.844,0.156 0.84337570081549439,0.15662429918450560 Region score:0.33; TSS score:0.3; Unmatched score:0.07; Average GERP:-0.35762606382978723 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000518 26198764 NONHSAT108251.2 rs61747867 T N/A 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls EFO_0000692 N/A Associate Schizophrenia rs61747867-T of NONHSAT108251.2 is significantly associated with the schizophrenia by using GWAS analysis in 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls(p-value = 2E-7 ;OR = 1.07). 0.4 Genome-wide association study of schizophrenia in Ashkenazi Jews. genome-wide association analysis NONHSAT108251.2 lncRNA Schizophrenia 0.451 GCGTCGGGGG(G > A,C,T)TGACGCGGGT chr6: 26272320 0.8878,.,.,0.1122 0.85471616972477064,.,0.00001592762487257,0.14526790265035677 Region score:0.54; TSS score:0.69; Unmatched score:0.88; Average GERP:3.0230792079207913 GeneName:HIST1H2APS4; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000218690; TranscriptID:ENST00000362070; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HIST1H2BI; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000278588; TranscriptID:ENST00000377733; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HIST1H3G; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000273983; TranscriptID:ENST00000614378; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000195013; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000518 28540026 NONHSAT108251.2 rs61747867 T N/A schizophrenia cases and controls (see ripke//2014)cases//up to 1,190 controls EFO_0000692 N/A Associate Schizophrenia rs61747867-T of NONHSAT108251.2 is significantly associated with the schizophrenia by using GWAS analysis in schizophrenia cases and controls (see ripke//2014)cases//up to 1,190 controls(p-value = 2E-9 ;OR = 1.08). 0.4 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. genome-wide association analysis NONHSAT108251.2 lncRNA Schizophrenia 0.451 GCGTCGGGGG(G > A,C,T)TGACGCGGGT chr6: 26272320 0.8878,.,.,0.1122 0.85471616972477064,.,0.00001592762487257,0.14526790265035677 Region score:0.54; TSS score:0.69; Unmatched score:0.88; Average GERP:3.0230792079207913 GeneName:HIST1H2APS4; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000218690; TranscriptID:ENST00000362070; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HIST1H2BI; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000278588; TranscriptID:ENST00000377733; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HIST1H3G; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000273983; TranscriptID:ENST00000614378; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000195013; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000519 26634245 NONHSAT027620.2 rs181609621 C N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs181609621-C of NONHSAT027620.2 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 3E-6 ;OR = 2.19). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT027620.2 lncRNA Pulmonary function measurement 0.33 GAGTTCCGGC(A > C)AACACAACTT chr12: 32657825 0.9976,0.002396 0.99816035932721712,0.00183964067278287 Region score:0.31; TSS score:0.32; Unmatched score:0.13; Average GERP:-0.5570654455445543 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000050728; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000267820; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000520 28754779 NONHSAT123845.2 rs4987704 ? N/A 1,959 european ancestry cases//1,488 european ancestry alcohol abuse controls//4,552 european ancestry controls EFO_1002013 N/A Associate Alcoholic chronic pancreatitis rs4987704-? of NONHSAT123845.2 is significantly associated with the alcoholic chronic pancreatitis by using GWAS analysis in 1,959 european ancestry cases//1,488 european ancestry alcohol abuse controls//4,552 european ancestry controls(p-value = 2E-6 ;OR = 1.404692). 0.4 Genome-wide association study identifies inversion in the CTRB1-CTRB2 locus to modify risk for alcoholic and non-alcoholic chronic pancreatitis. genome-wide association analysis NONHSAT123845.2 lncRNA Alcoholic pancreatitis 0.33 AGTACATGAC(G > A)TTGCACCAGC chr7: 142874551 0.9649,0.03514 0.93689475025484199,0.06310524974515800 Region score:0.37; TSS score:0.3; Unmatched score:0.68; Average GERP:2.9608316831683146 GeneName:AC245427.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000224970; TranscriptID:ENST00000438839; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:EPHB6; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000106123; TranscriptID:ENST00000619012; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TRPV6; CADD-Score:5; Consquence:synonymous; GeneID:ENSG00000165125; TranscriptID:ENST00000359396; AnnoType:SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000521 23349640 NONHSAT210402.1 rs2621416 G N/A 275 follicular non-hodgkin's lymphoma cases//269 diffuse large b-cell non-hodgkin's lymphoma cases//198 other non-hodgkin's lymphoma cases//202 hodgkin's lymphoma cases//4,044 controls; 202 european ancestry follicular non-hodgkin's lymphoma cases//367 european ancestry diffuse large b-cell non-hodgkin's lymphoma cases//577 european ancestry other non-hodgkin's lymphoma cases//99 european ancestry hodgkin's lymphoma cases//2,596 european ancestry controls EFO_0000574 N/A Associate Lymphoma rs2621416-G of NONHSAT210402.1 is significantly associated with the lymphoma by using GWAS analysis in 275 follicular non-hodgkin's lymphoma cases//269 diffuse large b-cell non-hodgkin's lymphoma cases//198 other non-hodgkin's lymphoma cases//202 hodgkin's lymphoma cases//4,044 controls; 202 european ancestry follicular non-hodgkin's lymphoma cases//367 european ancestry diffuse large b-cell non-hodgkin's lymphoma cases//577 european ancestry other non-hodgkin's lymphoma cases//99 european ancestry hodgkin's lymphoma cases//2,596 european ancestry controls(p-value = 2E-9 ;OR = 1.57). 0.4 Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies. genome-wide association analysis NONHSAT210402.1 lncRNA Lymphoma 0.33 TGAAATATAC(T > C)TGATTGTCAT chr6: 32774091 0.7139,0.2861 0.74483148572884811,0.25516851427115188 Region score:0.23; TSS score:0.46; Unmatched score:0.23; Average GERP:-0.7826623762376238 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000787965; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000522 27067015 NONHSAT177666.1 rs1187256 T N/A 91,370 european ancestry individuals//15,346 individuals EFO_0007660 N/A Associate Neuroticism rs1187256-T of NONHSAT177666.1 is significantly associated with the neuroticism by using GWAS analysis in 91,370 european ancestry individuals//15,346 individuals(p-value = 2E-8 ;OR = 0.12). 0.4 Genome-wide analysis of over 106 000 individuals identifies 9 neuroticism-associated loci. genome-wide association analysis NONHSAT177666.1 lncRNA Neuroticism measurement 0.33 ATGTACAGCT(C > T)ATTGTACTAC chr18: 37715367 0.9215,0.07847 0.91768603465851172,0.08231396534148827 Region score:0.33; TSS score:0.07; Unmatched score:0.01; Average GERP:0.07118910891089107 GeneName:AC009899.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000285940; TranscriptID:ENST00000649194; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000523 22610502 NONHSAT010318.2 rs908327 C N/A up to 512 european ancestry individuals//up to 199 african american individuals EFO_0004645 N/A Associate Immune reponse to smallpox (secreted il-2) rs908327-C of NONHSAT010318.2 is significantly associated with the immune reponse to smallpox (secreted il-2) by using GWAS analysis in up to 512 european ancestry individuals//up to 199 african american individuals(p-value = 5E-10 ;OR = ?). 0.4 Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. genome-wide association analysis NONHSAT010318.2 lncRNA Response to vaccine 0.33 TCAACCTCAT(A > C)GTAATATCTG chr1: 234956853 0.9816,0.01837 0.98376975025484199,0.01623024974515800 Region score:0.33; TSS score:0.45; Unmatched score:0.63; Average GERP:-0.3504564356435642 GeneName:AL391832.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000237520; TranscriptID:ENST00000423963; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AL391832.2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000238005; TranscriptID:ENST00000418557; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000524 26634245 NONHSAT047580.2 rs4243084 C N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs4243084-C of NONHSAT047580.2 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 8E-14 ;OR = 0.07). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT047580.2 lncRNA Pulmonary function measurement 0.33 TGGTGCTGCG(G > C)TAAGAGGTCA chr15: 78619330 0.744,0.256 0.71045170744138634,0.28954829255861365 Region score:0.45; TSS score:0.48; Unmatched score:0.89; Average GERP:-0.9871782178217822 GeneName:CHRNA3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000080644; TranscriptID:ENST00000326828; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CHRNB4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000117971; TranscriptID:ENST00000261751; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000278483; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000525 26634245 NONHSAT047599.2 rs4887087 T N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs4887087-T of NONHSAT047599.2 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 2E-8 ;OR = 0.066). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT047599.2 lncRNA Pulmonary function measurement 0.33 TGACATACAT(C > T)GGATACAGGA chr15: 78734199 0.8295,0.1705 0.73414404943934760,0.26585595056065239 Region score:0.37; TSS score:0.38; Unmatched score:0.45; Average GERP:0.24496039603960398 GeneName:AC022748.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000261303; TranscriptID:ENST00000564933; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000526 21685187 NONHSAT210414.1 rs9394152 T N/A 3,397 european ancestry cases EFO_0005670 N/A Associate Age at smoking initiation in chronic obstructive pulmonary disease rs9394152-T of NONHSAT210414.1 is significantly associated with the age at smoking initiation in chronic obstructive pulmonary disease by using GWAS analysis in 3,397 european ancestry cases(p-value = 7E-8 ;OR = 0.045). 0.4 Genome-wide association study of smoking behaviours in patients with COPD. genome-wide association analysis NONHSAT210414.1 lncRNA Smoking initiation 0.33 GCTGGGGCTG(C > T)CCACTCCATG chr6: 33497705 0.4107,0.5893 0.50374299184505606,0.49625700815494393 Region score:0.31; TSS score:0.15; Unmatched score:0.13; Average GERP:0.08929702970297022 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000788161; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000527 23417110 NONHSAT208983.1 rs16899524 C N/A 6,728 european ancestry individuals; EFO_0005197 N/A Associate Beta-2 microglubulin plasma levels rs16899524-C of NONHSAT208983.1 is significantly associated with the beta-2 microglubulin plasma levels by using GWAS analysis in 6,728 european ancestry individuals; (p-value = 1E-8 ;OR = 0.04). 0.4 Genome-wide association study identified the human leukocyte antigen region as a novel locus for plasma beta-2 microglobulin. genome-wide association analysis NONHSAT208983.1 lncRNA Beta-2 microglobulin measurement 0.33 TGTTGCCTCA(C > T)GATTTCATTG chr6: 31394533 0.8926,0.1074 0.89330880479102956,0.10669119520897043 Region score:0.21; TSS score:0.33; Unmatched score:0.18; Average GERP:-0.42354139 GeneName:AL645933.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000272221; TranscriptID:ENST00000606743; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000528 28441456 NONHSAT164685.1 rs142871661 T N/A 2,187 european ancestry individuals EFO_0007843 N/A Associate Facial morphology (factor 21//depth of nasal alae) rs142871661-T of NONHSAT164685.1 is significantly associated with the facial morphology (factor 21//depth of nasal alae) by using GWAS analysis in 2,187 european ancestry individuals(p-value = 3E-6 ;OR = 0.438). 0.4 Genome-wide association study of facial morphology reveals novel associations with FREM1 and PARK2. genome-wide association analysis NONHSAT164685.1 lncRNA Nose morphology measurement 0.33 TGTGGCTTCT(C > T)CCAGGGCCTG chr12: 52151138 0.9882,0.01178 0.98246368501529051,0.01753631498470948 Region score:0.3; TSS score:0.37; Unmatched score:0.25; Average GERP:0.2010148514851485 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000529 27424798 NONHSAT023550.2 rs1126809 A N/A 6,579 european ancestry cases//280,558 european ancestry controls; 825 european ancestry cases//11,518 european ancestry controls EFO_1001927 N/A Associate Cutaneous squamous cell carcinoma rs1126809-A of NONHSAT023550.2 is significantly associated with the cutaneous squamous cell carcinoma by using GWAS analysis in 6,579 european ancestry cases//280,558 european ancestry controls; 825 european ancestry cases//11,518 european ancestry controls(p-value = 3E-14 ;OR = 1.16). 0.4 Genome-wide association study identifies novel susceptibility loci for cutaneous squamous cell carcinoma. genome-wide association analysis NONHSAT023550.2 lncRNA Cutaneous squamous cell cancer 0.33 CAGTGGCTCC(G > A)AAGGCACCGT chr11: 89284793 0.9187,0.08127 0.82370508409785932,0.17629491590214067 Region score:0.27; TSS score:0.31; Unmatched score:0.54; Average GERP:2.4450792079207937 GeneName:TYR; CADD-Score:7; Consquence:missense; GeneID:ENSG00000077498; TranscriptID:ENST00000263321; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000530 23251661 NONHSAT196374.1 rs1913185 C N/A 815 hispanic children from 263 families EFO_0005110 N/A Associate Obesity-related traits rs1913185-C of NONHSAT196374.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 2E-7 ;OR = 0.04). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. genome-wide association analysis NONHSAT196374.1 lncRNA Fatty acid measurement 0.33 CTTCAACCAA(T > G)GGGGTCAGTC chr3: 146170670 0.8345,0.1655 0.84425968399592252,0.15574031600407747 Region score:0.17; TSS score:0.15; Unmatched score:0.04; Average GERP:-0.16155544554455442 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000531 18239089 NONHSAT094660.2 rs3796619 T N/A 1,887 male individuals; 1,248 male individuals EFO_0004863 N/A Associate Recombination rate (males) rs3796619-T of NONHSAT094660.2 is significantly associated with the recombination rate (males) by using GWAS analysis in 1,887 male individuals; 1,248 male individuals(p-value = 3E-24 ;OR = 70.7). 0.4 Sequence variants in the RNF212 gene associate with genome-wide recombination rate. genome-wide association analysis NONHSAT094660.2 lncRNA Recombination rate 0.33 TTGAAGGATT(A > G)TGACTCTGCC chr4: 1101493 0.4774,0.5226 0.44640354230377166,0.55359645769622833 Region score:0.29; TSS score:0.1; Unmatched score:0.58; Average GERP:0.15116039603960388 GeneName:AC092535.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000251639; TranscriptID:ENST00000513176; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RNF212; CADD-Score:2; Consquence:intron; GeneID:ENSG00000178222; TranscriptID:ENST00000433731; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000532 22367966 NONHSAT067101.2 rs1047781 ? N/A 1,999 han chinese ancestry individuals; 1,496 chinese ancestry individuals EFO_0004620 N/A Associate Vitamin b12 levels rs1047781-? of NONHSAT067101.2 is significantly associated with the vitamin b12 levels by using GWAS analysis in 1,999 han chinese ancestry individuals; 1,496 chinese ancestry individuals(p-value = 4E-36 ;OR = 70.21). 0.4 Genome-wide association study identifies novel loci associated with serum level of vitamin B12 in Chinese men. genome-wide association analysis NONHSAT067101.2 lncRNA Vitamin b12 measurement 0.33 ATACCGCCAC(A > T)TCCCGGGGGA chr19: 48703374 0.9097,0.09026 0.96699796126401630,0.03300203873598369 Region score:0.27; TSS score:0.27; Unmatched score:0.36; Average GERP:1.8214554455445546 GeneName:FUT2; CADD-Score:7; Consquence:missense; GeneID:ENSG00000176920; TranscriptID:ENST00000425340; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000533 23111177 CDKN2B-AS1 rs7049105 ? Dominant 976 poag cases from the glaucoma genes and environment (glaugen) study and 1971 cases from the national eye institute glaucoma human genetics collaboration (neighbor) consortium EFO_0004190 N/A Decreasing risk Primary open-angle glaucoma rs7049105-? of CDKN2B-AS1 and its dysfunction is significantly associated with the decreasing risk of primary open-angle glaucoma by using case-control analysis in 976 POAG cases from the Glaucoma Genes and Environment (GLAUGEN) study and 1971 cases from the National Eye Institute Glaucoma Human Genetics Collaboration (NEIGHBOR) consortium. 0.4 CDKN2B-AS1 genotype-glaucoma feature correlations in primary open-angle glaucoma patients from the United States. case-control analysis CDKN2B-AS1 lncRNA Open-angle glaucoma 0.33 AAACTCTGCC(A > G)TTATAGATTT chr9: 22028802 0.3385,0.6615 0.41181670489296636,0.58818329510703363 Region score:0.23; TSS score:0.14; Unmatched score:0.12; Average GERP:0.2172762376237623 GeneName:AL359922.1; CADD-Score:2; Consquence:intron,NMD; GeneID:ENSG00000264545; TranscriptID:ENST00000404796; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CDKN2B-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000240498; TranscriptID:ENST00000428597; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000877576; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000534 27951730 GAS5 rs75315904 G N/a 313 aml patients EFO_0000222 N/A No significance for prognosis Acute myeloid leukemia rs75315904-G of GAS5 and its dysfunction is not significantly associated with acute myeloid leukemia by using analysis of sequence variation in 313 AML patients. -0.4 Long non-coding RNA GAS5 polymorphism predicts a poor prognosis of acute myeloid leukemia in Chinese patients via affecting hematopoietic reconstitution. analysis of sequence variation GAS5 lncRNA Acute myeloid leukemia -0.33 N/A N/A N/A N/A N/A N/A NCRV0000000535 25918132 NONHSAT203898.1 rs16867528 A N/A 74 european ancestry cases//824 european ancestry controls EFO_0000270 N/A Associate Diisocyanate-induced asthma rs16867528-A of NONHSAT203898.1 is significantly associated with the diisocyanate-induced asthma by using GWAS analysis in 74 european ancestry cases//824 european ancestry controls(p-value = 2E-8 ;OR = 7.39). 0.4 Genome-Wide Association Study Identifies Novel Loci Associated With Diisocyanate-Induced Occupational Asthma. genome-wide association analysis NONHSAT203898.1 lncRNA Asthma 0.33 CAGTGCAGTG(C > T)GTATGATCTG chr5: 15607339 0.9663,0.03375 0.97731906218144750,0.02268093781855249 Region score:0.45; TSS score:0.33; Unmatched score:0.74; Average GERP:-0.3951856435643561 GeneName:CTD-2350J17.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000250250; TranscriptID:ENST00000509228; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:FBXL7; CADD-Score:2; Consquence:intron; GeneID:ENSG00000183580; TranscriptID:ENST00000504595; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000536 26053186 NONHSAT205196.1 rs75778424 ? N/A 362 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//438 european ancestry current smoker individuals//449 latino current smoker individuals//704 japanese ancestry current smoker individuals EFO_0001071 in smokers Associate 3-hydroxypropylmercapturic acid levels in smokers rs75778424-? of NONHSAT205196.1 is significantly associated with the 3-hydroxypropylmercapturic acid levels in smokers by using GWAS analysis in 362 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//438 european ancestry current smoker individuals//449 latino current smoker individuals//704 japanese ancestry current smoker individuals(p-value = 2E-6 ;OR = 0.3107). 0.4 Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer. genome-wide association analysis NONHSAT205196.1 lncRNA Lung cancer 0.33 CCTGAGTCTC(G > A,C)GGGCCCTTAA chr5: 2664364 N/A 0.94223050458715596,0.00342443934760448,0.05434505606523955 Region score:0.32; TSS score:0.29; Unmatched score:0.17; Average GERP:-2.572683168316831 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000537 27157822 NONHSAT207117.1 rs652888 ? N/A 38 european ancestry cases//1 case//5,170 european ancestry controls HP_0012235 N/A Associate Anti-thyroid drug induced agranulocytosis rs652888-? of NONHSAT207117.1 is significantly associated with the anti-thyroid drug induced agranulocytosis by using GWAS analysis in 38 european ancestry cases//1 case//5,170 european ancestry controls(p-value = 2E-11 ;OR = 4.73). 0.4 Genetic variants associated with antithyroid drug-induced agranulocytosis: a genome-wide association study in a European population. genome-wide association analysis NONHSAT207117.1 lncRNA Drug-induced agranulocytosis 0.33 GAGGAGGCAG(A > G)GGTCAGCTCA chr6: 31883457 0.7857,0.2143 0.79522649082568807,0.20477350917431192 Region score:0.31; TSS score:0.06; Unmatched score:0.28; Average GERP:0.5498247524752475 GeneName:EHMT2-AS1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000237080; TranscriptID:ENST00000642849; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:EHMT2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000204371; TranscriptID:ENST00000375528; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SLC44A4; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000204385; TranscriptID:ENST00000229729; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000538 26394269 NONHSAT161546.1 rs6421571 C N/A 2,764 european ancestry cases//10,475 european ancestry controls; 3,716 european ancestry cases// 4,261 european ancestry controls EFO_1001486 N/A Associate Primary biliary cholangitis rs6421571-C of NONHSAT161546.1 is significantly associated with the primary biliary cholangitis by using GWAS analysis in 2,764 european ancestry cases//10,475 european ancestry controls; 3,716 european ancestry cases// 4,261 european ancestry controls(p-value = 2E-13 ;OR = 1.39). 0.4 International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways. genome-wide association analysis NONHSAT161546.1 lncRNA Primary biliary cirrhosis 0.33 GGTAGACTTA(T > A,C)ATGATGCATG chr11: 118873063 N/A 0.20556192660550458,0.00210244648318042,0.79233562691131498 Region score:0.4; TSS score:0.36; Unmatched score:0.09; Average GERP:-0.8742742574257427 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000539 27989323 NONHSAT108565.2 rs148228730 AAT N/A 8,243 finnish ancestry individuals EFO_0005140 N/A Associate Macrophage inflammatory protein 1b levels rs148228730-AAT of NONHSAT108565.2 is significantly associated with the macrophage inflammatory protein 1b levels by using GWAS analysis in 8,243 finnish ancestry individuals(p-value = 9E-6 ;OR = 0.074). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. genome-wide association analysis NONHSAT108565.2 lncRNA Autoimmune disease 0.33 TTTTCCACGG(AAT > A)ATTCGGAGAT chr6: 29927886 0.3069,0.6931 0.27971298419979612,0.72028701580020387 N/A GeneName:HCG4B; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000227262; TranscriptID:ENST00000450128; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HLA-K; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000230795; TranscriptID:ENST00000430151; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000195344; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000540 25673412 NONHSAT112682.2 rs2033529 A N/A up to 56,910 european ancestry men//up to 86,570 european ancestry women; up to 36,570 european ancestry men//30,172 european ancestry women//915 filipino ancestry men//735 filipino ancestry women//2,351 african american/afro-caribbean ancestry men//6,258 african american/afro-caribbean ancestry women//2,285 south asian ancestry men//506 south asian ancestry women//195 seychellois ancestry men//266 seychellois ancestry women EFO_0004342 N/A Associate Waist circumference rs2033529-A of NONHSAT112682.2 is significantly associated with the waist circumference by using GWAS analysis in up to 56,910 european ancestry men//up to 86,570 european ancestry women; up to 36,570 european ancestry men//30,172 european ancestry women//915 filipino ancestry men//735 filipino ancestry women//2,351 african american/afro-caribbean ancestry men//6,258 african american/afro-caribbean ancestry women//2,285 south asian ancestry men//506 south asian ancestry women//195 seychellois ancestry men//266 seychellois ancestry women(p-value = 2E-8 ;OR = 0.0209). 0.4 New genetic loci link adipose and insulin biology to body fat distribution. genome-wide association analysis NONHSAT112682.2 lncRNA Waist circumference 0.33 CCTAATATCC(A > C,G)TGTAATGGCC chr6: 40380914 N/A 0.76669215086646279,0.01012200560652395,0.22318584352701325 Region score:0.41; TSS score:0.4; Unmatched score:0.28; Average GERP:0.9715643564356433 GeneName:TDRG1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000204091; TranscriptID:ENST00000373170; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000541 21208937 NONHSAT108210.2 rs1799945 C N/A up to 5,633 european ancestry individuals; up to 3,457 european ancestry individuals EFO_0006334 N/A Associate Iron status biomarkers rs1799945-C of NONHSAT108210.2 is significantly associated with the iron status biomarkers by using GWAS analysis in up to 5,633 european ancestry individuals; up to 3,457 european ancestry individuals(p-value = 3E-9 ;OR = 4.95). 0.4 Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels. genome-wide association analysis NONHSAT108210.2 lncRNA Total iron binding capacity 0.33 GTTCTATGAT(C > G)ATGAGAGTCG chr6: 26090951 0.9269,0.07308 0.89884365443425076,0.10115634556574923 Region score:0.3; TSS score:0.25; Unmatched score:0.49; Average GERP:0.6539455445544557 GeneName:HFE; CADD-Score:7; Consquence:missense; GeneID:ENSG00000010704; TranscriptID:ENST00000357618; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000542 23496005 NONHSAT164337.1 rs12425451 ? N/A 585 european ancestry cases; 387 european ancestry cases EFO_0000614 N/A Associate Narcolepsy with cataplexy rs12425451-? of NONHSAT164337.1 is significantly associated with the narcolepsy with cataplexy by using GWAS analysis in 585 european ancestry cases; 387 european ancestry cases(p-value = 2E-7 ;OR = 6.7866). 0.4 Clinical, polysomnographic and genome-wide association analyses of narcolepsy with cataplexy: a European Narcolepsy Network study. genome-wide association analysis NONHSAT164337.1 lncRNA Narcolepsy with cataplexy 0.33 CCTGGGAAGG(C > T)CTCGAGCCCC chr12: 3055757 0.4209,0.5791 0.44365602701325178,0.55634397298674821 Region score:0.39; TSS score:0.47; Unmatched score:0.34; Average GERP:0.7901 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000448570; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000543 26152337 hsa-mir-1302-3 rs7589328 T N/A 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A no significance for risk hepatocellular carcinoma rs7589328-T of hsa-mir-1302-3 and its dysfunction is not significantly associated with Hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors -0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. case-control analysis hsa-mir-1302-3 miRNA Hepatocellular carcinoma -0.33 ATTTATGCTA(C > A,T)GAAATTATTC chr2: 113583051 0.7714,.,0.2286 0.69543992099898063,0.00923005861365953,0.29533002038735983 Region score:0.46; TSS score:0.42; Unmatched score:0.83; Average GERP:-0.0865029702970297 GeneName:FAM138B; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000226516; TranscriptID:ENST00000432583; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR1302-3; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000221055; TranscriptID:ENST00000408128; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000122111; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000544 26634245 NONHSAT210149.1 rs147846168 A N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs147846168-A of NONHSAT210149.1 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 1E-8 ;OR = 3.109). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT210149.1 lncRNA Pulmonary function measurement 0.33 GCTGCATCAC(G > A)GTGTGACATG chr6: 1340507 0.999,0.0009984 0.99877357288481141,0.00122642711518858 Region score:0.31; TSS score:0.2; Unmatched score:0.12; Average GERP:-0.4596654950495052 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000545 21502573 NONHSAT199265.1 rs13109457 A N/A 21,052 european ancestry individuals EFO_0004507 N/A Associate D-dimer levels rs13109457-A of NONHSAT199265.1 is significantly associated with the d-dimer levels by using GWAS analysis in 21,052 european ancestry individuals(p-value = 3E-18 ;OR = 6.3). 0.4 Genetic predictors of fibrin D-dimer levels in healthy adults. genome-wide association analysis NONHSAT199265.1 lncRNA D dimer measurement 0.33 TGAGGCCAAG(G > A)CACAAGGACT chr4: 154593727 0.7179,0.2821 0.73849229102956167,0.26150770897043832 Region score:0.35; TSS score:0.29; Unmatched score:0.16; Average GERP:-0.6679999999999999 GeneName:FGA; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000171560; TranscriptID:ENST00000302053; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000546 22885689 NONHSAT109687.2 rs16869652 ? N/A 1,218 european ancestry cases//990 european ancestry controls//139 cases//114 controls EFO_0000692 N/A Associate Schizophrenia rs16869652-? of NONHSAT109687.2 is significantly associated with the schizophrenia by using GWAS analysis in 1,218 european ancestry cases//990 european ancestry controls//139 cases//114 controls(p-value = 5E-6 ;OR = 1.448). 0.4 Genome-wide association study of multiplex schizophrenia pedigrees. genome-wide association analysis NONHSAT109687.2 lncRNA Schizophrenia 0.33 ATGCAATTGA(G > A,T)GCTAAGAATA chr6: 33883396 0.9,0.1,. 0.88917558613659531,0.11081645005096839,0.00000796381243628 Region score:0.21; TSS score:0.18; Unmatched score:0.05; Average GERP:-0.4148591089108911 GeneName:AL138889.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000271362; TranscriptID:ENST00000603883; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LINC01016; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000249346; TranscriptID:ENST00000525912; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000547 19079261 NONHSAT186577.1 rs6548238 C N/A 32,387 european ancestry individuals; 59,082 european ancestry individuals EFO_0001073 N/A Associate Body mass index rs6548238-C of NONHSAT186577.1 is significantly associated with the body mass index by using GWAS analysis in 32,387 european ancestry individuals; 59,082 european ancestry individuals(p-value = 1E-18 ;OR = 0.26). 0.4 Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. genome-wide association analysis NONHSAT186577.1 lncRNA Obesity 0.33 AGCACAGGGA(T > C)TCGGGTGACT chr2: 634905 0.123,0.877 0.14729071100917431,0.85270928899082568 Region score:0.38; TSS score:0.49; Unmatched score:0.37; Average GERP:-1.8107405940594055 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000594666; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000548 27863252 NONHSAT203743.1 rs117893233 T N/A 171,529 european ancestry individuals EFO_0005192 N/A Associate Red cell distribution width rs117893233-T of NONHSAT203743.1 is significantly associated with the red cell distribution width by using GWAS analysis in 171,529 european ancestry individuals(p-value = 5E-9 ;OR = 0.1679467). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT203743.1 lncRNA Red blood cell distribution width 0.33 AATGAGTGAA(C > T)GGGTGAATGA chr5: 1041318 0.9982,0.001797 0.99734805045871559,0.00265194954128440 Region score:0.22; TSS score:0.12; Unmatched score:0.07; Average GERP:0.15 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000746653; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NKD2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000145506; TranscriptID:ENST00000296849; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000549 24816252 NONHSAT159177.1 rs174535 T N/A 7,824 european ancestry individuals EFO_0005664 N/A Associate Blood metabolite levels rs174535-T of NONHSAT159177.1 is significantly associated with the blood metabolite levels by using GWAS analysis in 7,824 european ancestry individuals(p-value = 2E-94 ;OR = 0.056). 0.4 An atlas of genetic influences on human blood metabolites. genome-wide association analysis NONHSAT159177.1 lncRNA Blood metabolite measurement 0.33 TCCCTGTCAG(T > C)AGTGGCACCC chr11: 61783884 0.6599,0.3401 0.68089799949031600,0.31910200050968399 Region score:0.3; TSS score:0.23; Unmatched score:0.42; Average GERP:2.6233049504950494 GeneName:MYRF; CADD-Score:5; Consquence:synonymous; GeneID:ENSG00000124920; TranscriptID:ENST00000278836; AnnoType:SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000040336; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TMEM258; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000134825; TranscriptID:ENST00000535042; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000550 23850713 NONHSAT003779.2 rs76418789 G N/A 532 korean ancestry cases//733 korean ancestry controls; 1,779 korean ancestry cases//1,709 korean ancestry controls EFO_0000384 N/A Associate Crohn's disease rs76418789-G of NONHSAT003779.2 is significantly associated with the crohn's disease by using GWAS analysis in 532 korean ancestry cases//733 korean ancestry controls; 1,779 korean ancestry cases//1,709 korean ancestry controls(p-value = 2E-10 ;OR = 2.06). 0.4 Genome-wide association study of Crohn's disease in Koreans revealed three new susceptibility loci and common attributes of genetic susceptibility across ethnic populations. genome-wide association analysis NONHSAT003779.2 lncRNA Crohn's disease 0.33 CTGGAATGCT(G > A)GGAAGCTCAC chr1: 67182913 0.9888,0.01118 0.99365284148827726,0.00634715851172273 Region score:0.46; TSS score:0.44; Unmatched score:0.51; Average GERP:2.469735643564358 GeneName:C1orf141; CADD-Score:2; Consquence:intron; GeneID:ENSG00000203963; TranscriptID:ENST00000371007; AnnoType:INTRONIC; mirSVR-Score:-1.0846; mirSVR-E:-22.10 | GeneName:IL23R; CADD-Score:7; Consquence:missense; GeneID:ENSG00000162594; TranscriptID:ENST00000347310; AnnoType:NON_SYNONYMOUS; mirSVR-Score:-1.0846; mirSVR-E:-22.10 | NCRV0000000551 21775986 NONHSAT216770.1 rs9987353 ? N/A 30,033 african american individuals EFO_0005919 N/A Associate Recombination measurement rs9987353-? of NONHSAT216770.1 is significantly associated with the recombination measurement by using GWAS analysis in 30,033 african american individuals(p-value = 8E-9 ;OR = ?). 0.4 The landscape of recombination in African Americans. genome-wide association analysis NONHSAT216770.1 lncRNA Recombination measurement 0.33 TTTCTCTGGA(C > A,T)TGGGGAGACT chr8: 9258839 N/A 0.77721234709480122,0.22161697247706422,0.00117068042813455 Region score:0.24; TSS score:0.02; Unmatched score:0.11; Average GERP:-0.07252910891089108 GeneName:AC022784.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000248538; TranscriptID:ENST00000520255; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC022784.3; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000253887; TranscriptID:ENST00000518589; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000847240; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000552 22778062 SNORD115-6 rs72546372 A N/A N/A function N/A not significant changes in the structure function rs72546372-A of SNORD115-6 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in nan -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD115-6 snoRNA function -0.049 AATAGGATTA(C > T)GCTGAGGCCC chr15: 25180568 0.9876,0.01238 0.98803835372069317,0.01196164627930682 Region score:0.23; TSS score:0.11; Unmatched score:0.55; Average GERP:-0.30255326732673277 GeneName:SNHG14; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000224078; TranscriptID:ENST00000447911; AnnoType:INTRONIC; mirSVR-Score:-0.0297; mirSVR-E:-17.97 | GeneName:SNORD115-4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000200680; TranscriptID:ENST00000363810; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0297; mirSVR-E:-17.97 | GeneName:SNORD115-5; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000200503; TranscriptID:ENST00000363633; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0297; mirSVR-E:-17.97 | GeneName:SNORD115-6; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000200812; TranscriptID:ENST00000363942; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0297; mirSVR-E:-17.97 | GeneName:SNORD115-7; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000278089; TranscriptID:ENST00000365306; AnnoType:UPSTREAM; mirSVR-Score:-0.0297; mirSVR-E:-17.97 | GeneName:SNORD115-8; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000200726; TranscriptID:ENST00000363856; AnnoType:UPSTREAM; mirSVR-Score:-0.0297; mirSVR-E:-17.97 | NCRV0000000553 24941225 NONHSAT067101.2 rs1047781 ? N/A 1,999 chinese ancestry individuals EFO_0005842 N/A Associate Elevated serum carcinoembryonic antigen levels rs1047781-? of NONHSAT067101.2 is significantly associated with the elevated serum carcinoembryonic antigen levels by using GWAS analysis in 1,999 chinese ancestry individuals(p-value = 1E-56 ;OR = ?). 0.4 Genetic variations affecting serum carcinoembryonic antigen levels and status of regional lymph nodes in patients with sporadic colorectal cancer from Southern China. genome-wide association analysis NONHSAT067101.2 lncRNA Colorectal cancer 0.33 ATACCGCCAC(A > T)TCCCGGGGGA chr19: 48703374 0.9097,0.09026 0.96699796126401630,0.03300203873598369 Region score:0.27; TSS score:0.27; Unmatched score:0.36; Average GERP:1.8214554455445546 GeneName:FUT2; CADD-Score:7; Consquence:missense; GeneID:ENSG00000176920; TranscriptID:ENST00000425340; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000554 27863252 NONHSAT182281.1 rs34020101 T N/A 172,275 european ancestry individuals EFO_0004842 N/A Associate Eosinophil counts rs34020101-T of NONHSAT182281.1 is significantly associated with the eosinophil counts by using GWAS analysis in 172,275 european ancestry individuals(p-value = 5E-32 ;OR = 0.04290931). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT182281.1 lncRNA Eosinophil count 0.33 TAAATATTAG(TA > T)AAAAAAAAAA chr2: 102435014 0.5375,0.4625 0.49025229357798165,0.50974770642201834 N/A GeneName:AC007278.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000234389; TranscriptID:ENST00000450893; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC007278.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000236525; TranscriptID:ENST00000436582; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:IL18RAP; CADD-Score:2; Consquence:intron; GeneID:ENSG00000115607; TranscriptID:ENST00000264260; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR4772; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000264764; TranscriptID:ENST00000581495; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000555 27863252 NONHSAT010798.2 rs3811444 T N/A 164,454 european ancestry individuals EFO_0004584 N/A Associate Mean platelet volume rs3811444-T of NONHSAT010798.2 is significantly associated with the mean platelet volume by using GWAS analysis in 164,454 european ancestry individuals(p-value = 2E-62 ;OR = 0.06369665). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT010798.2 lncRNA Mean platelet volume 0.33 GGGGAAACCA(C > T)GCCATCTCCT chr1: 247876149 0.7726,0.2274 0.74839927370030581,0.25160072629969418 Region score:0.13; TSS score:0.23; Unmatched score:0.34; Average GERP:0.6634764356435642 GeneName:TRIM58; CADD-Score:7; Consquence:missense; GeneID:ENSG00000162722; TranscriptID:ENST00000366481; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000556 21926972 NONHSAT187939.1 rs2176528 C N/A 7,481 european ancestry cases//9,250 european ancestry controls; 4,496 european ancestry cases//42,422 european ancestry controls EFO_0000289 N/A Associate Bipolar disorder rs2176528-C of NONHSAT187939.1 is significantly associated with the bipolar disorder by using GWAS analysis in 7,481 european ancestry cases//9,250 european ancestry controls; 4,496 european ancestry cases//42,422 european ancestry controls(p-value = 4E-6 ;OR = 1.12). 0.4 Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. genome-wide association analysis NONHSAT187939.1 lncRNA Bipolar disorder 0.33 TCCTGCCTTT(C > G,T)CCGATAAGAA chr2: 194007459 0.6591,0.3409,. 0.72296285677879714,0.27702121559633027,0.00001592762487257 Region score:0.41; TSS score:0.26; Unmatched score:0.02; Average GERP:-0.38560990099009906 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000557 28240269 NONHSAT196716.1 rs5030062 C N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0004694 N/A Associate Blood protein levels rs5030062-C of NONHSAT196716.1 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 3E-40 ;OR = 0.5581). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. genome-wide association analysis NONHSAT196716.1 lncRNA Factor xi measurement 0.33 TTATAGTTTT(A > C)ATCTTGCCTT chr3: 186736391 0.6587,0.3413 0.64970374617737003,0.35029625382262996 Region score:0.17; TSS score:0.1; Unmatched score:0.06; Average GERP:0.247108 GeneName:AC068631.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000197099; TranscriptID:ENST00000627551; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:KNG1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000113889; TranscriptID:ENST00000644859; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000558 27863252 NONHSAT220313.1 rs605642 A N/A 172,275 european ancestry individuals EFO_0004842 N/A Associate Eosinophil counts rs605642-A of NONHSAT220313.1 is significantly associated with the eosinophil counts by using GWAS analysis in 172,275 european ancestry individuals(p-value = 2E-13 ;OR = 0.02687869). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT220313.1 lncRNA Eosinophil count 0.33 GAAATGATGG(C > A)TTTGAAGCTG chr9: 133005082 0.5745,0.4255 0.49752325433231396,0.50247674566768603 Region score:0.28; TSS score:0.52; Unmatched score:0.34; Average GERP:-0.9401170297029703 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000559 24665060 NONHSAT205898.1 rs11952583 ? N/A 754 bangladeshi ancestry never smoker males//2,565 bangladeshi ancestry never smoker females//1,837 bangladeshi ancestry ever smoker males//198 bangladeshi ancestry ever smoker females EFO_0005670 N/A Associate Smoking initiation rs11952583-? of NONHSAT205898.1 is significantly associated with the smoking initiation by using GWAS analysis in 754 bangladeshi ancestry never smoker males//2,565 bangladeshi ancestry never smoker females//1,837 bangladeshi ancestry ever smoker males//198 bangladeshi ancestry ever smoker females(p-value = 5E-6 ;OR = ?). 0.4 Genome-wide association study of smoking behaviours among Bangladeshi adults. genome-wide association analysis NONHSAT205898.1 lncRNA Smoking initiation 0.33 ATACAGGAGT(A > C)CTTCTTTAAA chr5: 74013280 0.2033,0.7967 0.17268730886850152,0.82731269113149847 Region score:0.25; TSS score:0.31; Unmatched score:0.19; Average GERP:0.34909554455445524 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000758846; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000560 28928442 NONHSAT208945.1 rs2523815 A N/A 16,711 european ancestry cases//118,152 european ancestry controls EFO_0008401 N/A Associate Shingles rs2523815-A of NONHSAT208945.1 is significantly associated with the shingles by using GWAS analysis in 16,711 european ancestry cases//118,152 european ancestry controls(p-value = 2E-22 ;OR = 1.12). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. genome-wide association analysis NONHSAT208945.1 lncRNA Susceptibility to shingles measurement 0.33 AGCATCCATC(A > G)TGAGGTGAAA chr6: 29872466 0.6587,0.3413 0.66156982670744138,0.33843017329255861 Region score:0.24; TSS score:0.15; Unmatched score:0.03; Average GERP:0.09000495049504952 GeneName:AL645929.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000285799; TranscriptID:ENST00000647952; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HCP5B; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000281831; TranscriptID:ENST00000630472; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000561 18849991 NONHSAT189445.1 rs1160312 A N/A 578 european ancestry cases//547 european ancestry controls; 1,351 european ancestry cases//2,485 european ancestry controls EFO_0004191 N/A Associate Male-pattern baldness rs1160312-A of NONHSAT189445.1 is significantly associated with the male-pattern baldness by using GWAS analysis in 578 european ancestry cases//547 european ancestry controls; 1,351 european ancestry cases//2,485 european ancestry controls(p-value = 1E-14 ;OR = 1.6). 0.4 Male-pattern baldness susceptibility locus at 20p11. genome-wide association analysis NONHSAT189445.1 lncRNA Androgenetic alopecia 0.33 GTCAGGACTC(A > G)AGTAGGTTGG chr20: 22069865 0.3786,0.6214 0.42313328236493374,0.57686671763506625 Region score:0.21; TSS score:0.2; Unmatched score:0.12; Average GERP:-0.7937862376237623 GeneName:LINC01432; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000234435; TranscriptID:ENST00000449427; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000562 23251661 NONHSAT103899.2 rs606854 A N/A 815 hispanic children from 263 families EFO_0005119 N/A Associate Obesity-related traits rs606854-A of NONHSAT103899.2 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 6E-6 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. genome-wide association analysis NONHSAT103899.2 lncRNA Antioxidant measurement 0.33 CTCTGACTCC(A > C,G,T)CAGGCTTTAG chr5: 135236539 N/A 0.10043960244648318,0.02158193170234454,0.72177624872579001,0.15620221712538226 Region score:0.28; TSS score:0.34; Unmatched score:0.42; Average GERP:-0.9894242105263155 GeneName:C5orf66-AS2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000249647; TranscriptID:ENST00000505663; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:C5orf66; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000224186; TranscriptID:ENST00000624272; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000563 27863252 NONHSAT180215.1 rs875622 G N/A 171,542 european ancestry individuals EFO_0007990 N/A Associate Neutrophil percentage of white cells rs875622-G of NONHSAT180215.1 is significantly associated with the neutrophil percentage of white cells by using GWAS analysis in 171,542 european ancestry individuals(p-value = 2E-39 ;OR = 0.056111). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT180215.1 lncRNA Neutrophil percentage of leukocytes 0.33 TCTGCGATGC(A > G)CTGCCTCTGA chr19: 16356948 0.3301,0.6699 0.32130797655453618,0.67869202344546381 Region score:0.13; TSS score:0.23; Unmatched score:0.12; Average GERP:-0.492443564356436 GeneName:AC020917.3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277825; TranscriptID:ENST00000621050; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC020917.4; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000280332; TranscriptID:ENST00000623994; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:EPS15L1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000127527; TranscriptID:ENST00000455140; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000564 23555923 hsa-mir-373 rs12983273 T N/A 191 patients with TNBC and 192 healthy female controls EFO_0005537 N/A no significance for risk triple-negative breast cancer rs12983273-T of hsa-mir-373 and its dysfunction is not significantly associated with Triple-negative breast cancer by using case-control analysis in 191 patients with TNBC and 192 healthy female controls -0.4 There is no association between microRNA gene polymorphisms and risk of triple negative breast cancer in a Chinese Han population. case-control analysis hsa-mir-373 miRNA Triple-negative breast cancer -0.33 TGATATGTAA(C > T)TTTCCTCTTC chr19: 53788578 0.8444,0.1556 0.85497897553516819,0.14502102446483180 Region score:0.4; TSS score:0.27; Unmatched score:0.35; Average GERP:0.09324752475247536 GeneName:AC008753.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000269564; TranscriptID:ENST00000597420; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC008753.3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000269877; TranscriptID:ENST00000595160; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR371A; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000199031; TranscriptID:ENST00000362161; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR371B; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284568; TranscriptID:ENST00000638082; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR372; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000199095; TranscriptID:ENST00000362225; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR373; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000199143; TranscriptID:ENST00000362273; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000593522; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000565 29773352 ANRIL rs2184061 A Recessive 200 atherothrombotic stroke cases and 205 controls EFO_1001976 N/A increasing risk atherothrombotic stroke rs2184061-A of ANRIL and its dysfunction is significantly associated with the increasing risk of Cardioembolic stroke by using case-control analysis in 200 atherothrombotic stroke cases and 205 controls 0.4 The ANRIL Genetic Variants and Their Interactions with Environmental Risk Factors on Atherothrombotic Stroke in a Han Chinese Population. case-control analysis ANRIL lncRNA Cardioembolic stroke 0.33 CTGTTAGATA(C > A)AAAATTCATC chr9: 22061563 0.3179,0.6821 0.36166857798165137,0.63833142201834862 Region score:0.19; TSS score:0.14; Unmatched score:0.1; Average GERP:-0.23532594059405945 GeneName:CDKN2B-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000240498; TranscriptID:ENST00000428597; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000566 23760081 NONHSAT207117.1 rs652888 ? N/A 400 korean ancestry cases//1,000 korean ancestry controls; 971 korean ancestry cases//1,938 korean ancestry controls EFO_0004239 N/A Associate Chronic hepatitis b infection rs652888-? of NONHSAT207117.1 is significantly associated with the chronic hepatitis b infection by using GWAS analysis in 400 korean ancestry cases//1,000 korean ancestry controls; 971 korean ancestry cases//1,938 korean ancestry controls(p-value = 7E-13 ;OR = 1.38). 0.4 A genome-wide association study identified new variants associated with the risk of chronic hepatitis B. genome-wide association analysis NONHSAT207117.1 lncRNA Chronic hepatitis b infection 0.451 GAGGAGGCAG(A > G)GGTCAGCTCA chr6: 31883457 0.7857,0.2143 0.79522649082568807,0.20477350917431192 Region score:0.31; TSS score:0.06; Unmatched score:0.28; Average GERP:0.5498247524752475 GeneName:EHMT2-AS1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000237080; TranscriptID:ENST00000642849; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:EHMT2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000204371; TranscriptID:ENST00000375528; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SLC44A4; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000204385; TranscriptID:ENST00000229729; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000566 25802187 NONHSAT207117.1 rs652888 G N/A 2,514 chinese ancestry cases//1,130 chinese ancestry controls; 6,600 chinese ancestry cases//8,127 chinese ancestry controls EFO_0004239 N/A Associate Chronic hepatitis b infection rs652888-G of NONHSAT207117.1 is significantly associated with the chronic hepatitis b infection by using GWAS analysis in 2,514 chinese ancestry cases//1,130 chinese ancestry controls; 6,600 chinese ancestry cases//8,127 chinese ancestry controls(p-value = 1E-6 ;OR = 1.14). 0.4 Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B. genome-wide association analysis NONHSAT207117.1 lncRNA Chronic hepatitis b infection 0.451 GAGGAGGCAG(A > G)GGTCAGCTCA chr6: 31883457 0.7857,0.2143 0.79522649082568807,0.20477350917431192 Region score:0.31; TSS score:0.06; Unmatched score:0.28; Average GERP:0.5498247524752475 GeneName:EHMT2-AS1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000237080; TranscriptID:ENST00000642849; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:EHMT2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000204371; TranscriptID:ENST00000375528; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SLC44A4; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000204385; TranscriptID:ENST00000229729; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000567 28887158 CASC8 rs1447295 C N/A 1119 colorectal cancer cases with a mean age of 58 years and 1297 matched healthy subjects with a mean age of 59 years in Iranian population EFO_0005842 N/A no significance for risk colorectal cancer rs1447295-C of CASC8 and its dysfunction is not significantly associated with Colorectal cancer by using case-control analysis in 1119 colorectal cancer cases with a mean age of 58 years and 1297 matched healthy subjects with a mean age of 59 years in Iranian population -0.4 Lack of association of CASC8 rs1447295 with colorectal cancer in Iranian population: A multicenter case-control study. case-control analysis CASC8 lncRNA Colorectal cancer -0.33 GTATGTAAAA(A > C,T)GTGCTATGGA chr8: 127472793 0.1811,0.8189,. 0.17189092762487257,0.82810907237512742,. Region score:0.26; TSS score:0.37; Unmatched score:0.37; Average GERP:-1.4048153465346533 GeneName:CASC8; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000246228; TranscriptID:ENST00000502082; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000869344; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000568 25342443 NONHSAT211293.1 rs12665607 A N/A 7,600 european ancestry individuals; 343 european ancestry individuals//1,472 old order amish individuals//8,564 individuals EFO_0006503 N/A Associate Mammographic density (dense area) rs12665607-A of NONHSAT211293.1 is significantly associated with the mammographic density (dense area) by using GWAS analysis in 7,600 european ancestry individuals; 343 european ancestry individuals//1,472 old order amish individuals//8,564 individuals(p-value = 2E-8 ;OR = 0.17). 0.4 Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk. genome-wide association analysis NONHSAT211293.1 lncRNA Dense area measurement 0.33 ACTGTGAATG(T > A)CTTCCCAAGG chr6: 151625494 0.8964,0.1036 0.92274305555555555,0.07725694444444444 Region score:0.42; TSS score:0.29; Unmatched score:0.14; Average GERP:-0.12158799999999999 GeneName:CCDC170; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000120262; TranscriptID:ENST00000239374; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000569 23942779 NONHSAT148542.1 rs3131513 G N/A 7,188 european ancestry individuals EFO_0003829 N/A Associate Alcohol dependence rs3131513-G of NONHSAT148542.1 is significantly associated with the alcohol dependence by using GWAS analysis in 7,188 european ancestry individuals(p-value = 2E-6 ;OR = 0.353). 0.4 A genome-wide association study of behavioral disinhibition. genome-wide association analysis NONHSAT148542.1 lncRNA Alcohol dependence 0.33 GATGAAGCAG(G > A)TTCTGACCTC chr1: 24866664 0.2903,0.7097 0.32611015545361875,0.67388984454638124 Region score:0.22; TSS score:0.36; Unmatched score:0.26; Average GERP:-0.6421267326732673 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000350990; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000570 26631737 NONHSAT152363.1 rs4072037 T N/A up to 54,450 european ancestry individuals EFO_0007778 N/A Associate Urinary albumin-to-creatinine ratio rs4072037-T of NONHSAT152363.1 is significantly associated with the urinary albumin-to-creatinine ratio by using GWAS analysis in up to 54,450 european ancestry individuals(p-value = 3E-6 ;OR = 0.029). 0.4 Genome-wide Association Studies Identify Genetic Loci Associated With Albuminuria in Diabetes. genome-wide association analysis NONHSAT152363.1 lncRNA Urinary albumin to creatinine ratio 0.33 GACCAGAACC(C > A,T)GTAACAACTG chr1: 155192276 0.3712,.,0.6288 0.40077089704383282,.,0.59922910295616717 Region score:0.23; TSS score:0.41; Unmatched score:0.88; Average GERP:-1.2133722772277231 GeneName:AC234582.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000231064; TranscriptID:ENST00000447623; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR92B; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284586; TranscriptID:ENST00000607575; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MUC1; CADD-Score:5; Consquence:synonymous; GeneID:ENSG00000185499; TranscriptID:ENST00000612778; AnnoType:SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000014041; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:THBS3; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000169231; TranscriptID:ENST00000368378; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000571 26293465 NONHSAT156605.1 rs8177757 ? N/A 2,964 european ancestry individuals//683 african american individuals; 4,464 european ancestry individuals EFO_0003914 N/A Associate Soluble interleukin-2 receptor subunit alpha rs8177757-? of NONHSAT156605.1 is significantly associated with the soluble interleukin-2 receptor subunit alpha by using GWAS analysis in 2,964 european ancestry individuals//683 african american individuals; 4,464 european ancestry individuals(p-value = 2E-10 ;OR = ?). 0.4 Plasma Levels of Soluble Interleukin-2 Receptor alpha: Associations With Clinical Cardiovascular Events and Genome-Wide Association Scan. genome-wide association analysis NONHSAT156605.1 lncRNA Atherosclerosis 0.33 TGATGCATTT(C > T)TAATGGTCAC chr10: 5985758 0.9922,0.007788 0.98083906727828746,0.01916093272171253 Region score:0.3; TSS score:0.36; Unmatched score:0.16; Average GERP:-0.3385424851485149 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000394806; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000572 28621612 ANRIL rs1333045 ? N/A 125 prostate cancer patients and 220 normal age-matched subjects EFO_0001663 N/A no significance for risk prostate carcinoma rs1333045-? of ANRIL and its dysfunction is not significantly associated with Prostate carcinoma by using case-control analysis in 125 prostate cancer patients and 220 normal age-matched subjects -0.4 Association of ANRIL gene polymorphisms with prostate cancer and benign prostatic hyperplasia in an Iranian population. case-control analysis ANRIL lncRNA Prostate carcinoma -0.33 GTACACTGTG(T > C)CTGGCATCTA chr9: 22119196 0.5018,0.4982 0.49427401885830784,0.50572598114169215 Region score:0.66; TSS score:0.72; Unmatched score:0.7; Average GERP:-0.5095316831683168 GeneName:CDKN2B-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000240498; TranscriptID:ENST00000428597; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01909; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000277653; TranscriptID:ENST00000617921; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000573 22864923 NONHSAT174827.1 rs3803800 ? N/A 1,999 han chinese ancestry male individuals; 1,496 east asian ancestry male individuals EFO_0004194 N/A Associate Iga levels rs3803800-? of NONHSAT174827.1 is significantly associated with the iga levels by using GWAS analysis in 1,999 han chinese ancestry male individuals; 1,496 east asian ancestry male individuals(p-value = 3E-7 ;OR = ?). 0.4 Genome-wide association study identifies TNFSF13 as a susceptibility gene for IgA in a South Chinese population in smokers. genome-wide association analysis NONHSAT174827.1 lncRNA Iga glomerulonephritis 0.52 GCCTGGGAGA(A > G)TGGGGAGAGA chr17: 7559652 0.4403,0.5597 0.36584957951070336,0.63415042048929663 Region score:0.25; TSS score:0.39; Unmatched score:0.76; Average GERP:1.9282871287128722 GeneName:AC016876.3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000276384; TranscriptID:ENST00000610459; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000090876; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000548551; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SENP3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000161956; TranscriptID:ENST00000321337; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SENP3-EIF4A1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277957; TranscriptID:ENST00000614237; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TNFSF12; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000239697; TranscriptID:ENST00000293825; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TNFSF12-TNFSF13; CADD-Score:7; Consquence:missense; GeneID:ENSG00000248871; TranscriptID:ENST00000293826; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TNFSF13; CADD-Score:7; Consquence:missense; GeneID:ENSG00000161955; TranscriptID:ENST00000338784; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000573 25305756 NONHSAT174827.1 rs3803800 A N/A 1,194 han chinese ancestry cases//902 han chinese ancestry controls//1,553 european ancestry cases//3,050 european ancestry controls; 2,491 east asian ancestry cases//1,780 east asian ancestry controls//2,420 european ancestry cases//7,222 european ancestry controls EFO_0004194 N/A Associate Iga nephropathy rs3803800-A of NONHSAT174827.1 is significantly associated with the iga nephropathy by using GWAS analysis in 1,194 han chinese ancestry cases//902 han chinese ancestry controls//1,553 european ancestry cases//3,050 european ancestry controls; 2,491 east asian ancestry cases//1,780 east asian ancestry controls//2,420 european ancestry cases//7,222 european ancestry controls(p-value = 9E-6 ;OR = 1.12). 0.4 Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens. genome-wide association analysis NONHSAT174827.1 lncRNA Iga glomerulonephritis 0.52 GCCTGGGAGA(A > G)TGGGGAGAGA chr17: 7559652 0.4403,0.5597 0.36584957951070336,0.63415042048929663 Region score:0.25; TSS score:0.39; Unmatched score:0.76; Average GERP:1.9282871287128722 GeneName:AC016876.3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000276384; TranscriptID:ENST00000610459; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000090876; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000548551; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SENP3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000161956; TranscriptID:ENST00000321337; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SENP3-EIF4A1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277957; TranscriptID:ENST00000614237; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TNFSF12; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000239697; TranscriptID:ENST00000293825; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TNFSF12-TNFSF13; CADD-Score:7; Consquence:missense; GeneID:ENSG00000248871; TranscriptID:ENST00000293826; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TNFSF13; CADD-Score:7; Consquence:missense; GeneID:ENSG00000161955; TranscriptID:ENST00000338784; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000573 22197929 NONHSAT174827.1 rs3803800 A N/A 1,434 han chinese ancestry cases//4,270 han chinese ancestry controls; 2,703 han chinese ancestry cases//3,464 han chinese ancestry controls EFO_0004194 N/A Associate Iga nephropathy rs3803800-A of NONHSAT174827.1 is significantly associated with the iga nephropathy by using GWAS analysis in 1,434 han chinese ancestry cases//4,270 han chinese ancestry controls; 2,703 han chinese ancestry cases//3,464 han chinese ancestry controls(p-value = 9E-11 ;OR = 1.21). 0.4 A genome-wide association study in Han Chinese identifies multiple susceptibility loci for IgA nephropathy. genome-wide association analysis NONHSAT174827.1 lncRNA Iga glomerulonephritis 0.52 GCCTGGGAGA(A > G)TGGGGAGAGA chr17: 7559652 0.4403,0.5597 0.36584957951070336,0.63415042048929663 Region score:0.25; TSS score:0.39; Unmatched score:0.76; Average GERP:1.9282871287128722 GeneName:AC016876.3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000276384; TranscriptID:ENST00000610459; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000090876; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000548551; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SENP3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000161956; TranscriptID:ENST00000321337; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SENP3-EIF4A1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277957; TranscriptID:ENST00000614237; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TNFSF12; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000239697; TranscriptID:ENST00000293825; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TNFSF12-TNFSF13; CADD-Score:7; Consquence:missense; GeneID:ENSG00000248871; TranscriptID:ENST00000293826; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TNFSF13; CADD-Score:7; Consquence:missense; GeneID:ENSG00000161955; TranscriptID:ENST00000338784; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000574 23241943 NONHSAT179156.1 rs2980976 A N/A up to 421 european ancestry schizophrenia cases//up to 214 african american individuals//up to 103 individuals GO_0097336 N/A Associate Response to antipsychotic treatment rs2980976-A of NONHSAT179156.1 is significantly associated with the response to antipsychotic treatment by using GWAS analysis in up to 421 european ancestry schizophrenia cases//up to 214 african american individuals//up to 103 individuals(p-value = 3E-7 ;OR = ?). 0.4 Genome-wide association study of patient-rated and clinician-rated global impression of severity during antipsychotic treatment. genome-wide association analysis NONHSAT179156.1 lncRNA Response to risperidone 0.33 CCTTCTTGCT(G > A)ATATTAACCA chr18: 62412879 0.7562,0.2438 0.82669947757390417,0.17330052242609582 Region score:0.29; TSS score:0.28; Unmatched score:0.33; Average GERP:-0.3567009900990099 GeneName:RPL17P44; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000241088; TranscriptID:ENST00000475372; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000575 22675492 NONHSAT173066.1 rs12596210 C N/A 1,598 european ancestry female individuals EFO_0004696 N/A Associate Sex hormone-binding globulin levels rs12596210-C of NONHSAT173066.1 is significantly associated with the sex hormone-binding globulin levels by using GWAS analysis in 1,598 european ancestry female individuals(p-value = 9E-6 ;OR = 0.12). 0.4 Genome-wide association study of circulating estradiol, testosterone, and sex hormone-binding globulin in postmenopausal women. genome-wide association analysis NONHSAT173066.1 lncRNA Sex hormone-binding globulin measurement 0.33 AATTTGCAAA(T > C)GGGATTGGCC chr16: 53994059 0.8712,0.1288 0.86897935779816513,0.13102064220183486 Region score:0.55; TSS score:0.56; Unmatched score:0.26; Average GERP:1.9835445544554466 GeneName:AC007496.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000260194; TranscriptID:ENST00000565641; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC007496.3; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000280392; TranscriptID:ENST00000624987; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:FTO; CADD-Score:2; Consquence:intron; GeneID:ENSG00000140718; TranscriptID:ENST00000471389; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000576 20811658 NONHSAT169481.1 rs7159300 ? N/A 369 european ancestry individuals EFO_0004319 N/A Associate Smoking cessation rs7159300-? of NONHSAT169481.1 is significantly associated with the smoking cessation by using GWAS analysis in 369 european ancestry individuals(p-value = 4E-6 ;OR = ?). 0.4 Genome-wide association for smoking cessation success in a trial of precessation nicotine replacement. genome-wide association analysis NONHSAT169481.1 lncRNA Smoking cessation 0.33 TTTCTTCAGC(G > A,T)CTCCCTGCCA chr14: 72417166 0.8083,0.1917,. 0.81775611620795107,0.18223591997961264,0.00000796381243628 Region score:0.49; TSS score:0.34; Unmatched score:0.34; Average GERP:-0.5961079207920794 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000275222; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000501584; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RGS6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000182732; TranscriptID:ENST00000553525; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000577 23704328 NONHSAT176513.1 rs8080944 A N/A 11,118 european ancestry individuals; GO_0044691 N/A Associate Primary tooth development (time to first tooth eruption) rs8080944-A of NONHSAT176513.1 is significantly associated with the primary tooth development (time to first tooth eruption) by using GWAS analysis in 11,118 european ancestry individuals; (p-value = 8E-34 ;OR = 0.341). 0.4 Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances. genome-wide association analysis NONHSAT176513.1 lncRNA Tooth eruption 0.33 TAATTTTACA(G > A)TCCCATTACC chr17: 70189445 0.4543,0.5457 0.44880861365953109,0.55119138634046890 Region score:0.19; TSS score:0.05; Unmatched score:0.04; Average GERP:-0.18103960396039587 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000578 26152337 hsa-mir-412 rs61992671 G N/a 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs61992671-G of hsa-mir-412 and its dysfunction is not significantly associated with hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors. -0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. case-control analysis hsa-mir-412 miRNA Hepatocellular cancer -0.33 CTGGTCCACT(A > G)GCCGTCCGTA chr14: 101065517 0.8109,0.1891 0.68209257135575942,0.31790742864424057 Region score:0.42; TSS score:0.35; Unmatched score:0.62; Average GERP:1.6513217821782178 GeneName:MEG9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000223403; TranscriptID:ENST00000429368; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR369; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000199025; TranscriptID:ENST00000362155; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR377; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000199015; TranscriptID:ENST00000362145; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR409; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000199107; TranscriptID:ENST00000362237; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR410; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000199092; TranscriptID:ENST00000362222; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR412; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000199012; TranscriptID:ENST00000362142; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR496; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207961; TranscriptID:ENST00000385226; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR541; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000216179; TranscriptID:ENST00000401360; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR656; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207959; TranscriptID:ENST00000385224; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000579 26192919 NONHSAT199814.1 rs4692386 G N/A 12,882 european ancestry cases//21,770 european ancestry controls; 25,273 european ancestry cases//26,715 european ancestry controls//548 iranian ancestry cases//342 iranian ancestry control//1,423 indian ancestry cases//990 indian ancestry controls//2,824 east asian ancestry cases//3,719 east asian ancestry controls EFO_0003767 N/A Associate Inflammatory bowel disease rs4692386-G of NONHSAT199814.1 is significantly associated with the inflammatory bowel disease by using GWAS analysis in 12,882 european ancestry cases//21,770 european ancestry controls; 25,273 european ancestry cases//26,715 european ancestry controls//548 iranian ancestry cases//342 iranian ancestry control//1,423 indian ancestry cases//990 indian ancestry controls//2,824 east asian ancestry cases//3,719 east asian ancestry controls(p-value = 1E-8 ;OR = 1.0596887). 0.4 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. genome-wide association analysis NONHSAT199814.1 lncRNA Inflammatory bowel disease 0.33 TGAGAGTTGA(T > A,C)GTGAATTATG chr4: 26130739 0.3888,.,0.6112 0.38665902140672782,0.00108307849133537,0.61225790010193679 Region score:0.48; TSS score:0.29; Unmatched score:0.15; Average GERP:-0.6716712871287129 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000720088; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000580 27126917 NONHSAT183305.1 rs62182887 A N/A 874 european ancestry individuals EFO_0007828 N/A Associate Daytime sleep phenotypes rs62182887-A of NONHSAT183305.1 is significantly associated with the daytime sleep phenotypes by using GWAS analysis in 874 european ancestry individuals(p-value = 3E-6 ;OR = 1.15). 0.4 Genome-wide association analysis of actigraphic sleep phenotypes in the LIFE Adult Study. genome-wide association analysis NONHSAT183305.1 lncRNA Daytime rest measurement 0.33 TGGACAGGAT(G > A)TGAGGGATGC chr2: 190578143 0.9788,0.02117 0.96001369775739041,0.03998630224260958 Region score:0.47; TSS score:0.47; Unmatched score:0.41; Average GERP:-0.5862069306930692 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000581 22778062 SNORA80 rs77990421 G N/A N/A function N/A not significant changes in the structure function rs77990421-G of SNORA80 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in nan -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORA80 snoRNA function -0.049 - - - - - - NCRV0000000582 28928442 NONHSAT108734.2 rs885950 C N/A 25,108 european ancestry cases//63,332 european ancestry controls EFO_0008402 N/A Associate Cold sores rs885950-C of NONHSAT108734.2 is significantly associated with the cold sores by using GWAS analysis in 25,108 european ancestry cases//63,332 european ancestry controls(p-value = 7E-13 ;OR = 1.08). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. genome-wide association analysis NONHSAT108734.2 lncRNA Susceptibility to cold sores measurement 0.33 GAGGAGGTGG(A > C)GAGTGATTTG chr6: 31172375 0.5829,0.4171 0.57099738786952089,0.42900261213047910 Region score:0.23; TSS score:0.28; Unmatched score:0.61; Average GERP:-0.03484554455445543 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000787508; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:POU5F1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000204531; TranscriptID:ENST00000259915; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PSORS1C3; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000204528; TranscriptID:ENST00000412143; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000583 25673412 NONHSAT168811.1 rs2160077 A N/A up to 56,910 european ancestry men//up to 86,570 european ancestry women; up to 36,570 european ancestry men//30,172 european ancestry women//915 filipino ancestry men//735 filipino ancestry women//2,351 african american/afro-caribbean ancestry men//6,258 african american/afro-caribbean ancestry women//2,285 south asian ancestry men//506 south asian ancestry women//195 seychellois ancestry men//266 seychellois ancestry women EFO_0007789 N/A Associate Waist circumference adjusted for body mass index rs2160077-A of NONHSAT168811.1 is significantly associated with the waist circumference adjusted for body mass index by using GWAS analysis in up to 56,910 european ancestry men//up to 86,570 european ancestry women; up to 36,570 european ancestry men//30,172 european ancestry women//915 filipino ancestry men//735 filipino ancestry women//2,351 african american/afro-caribbean ancestry men//6,258 african american/afro-caribbean ancestry women//2,285 south asian ancestry men//506 south asian ancestry women//195 seychellois ancestry men//266 seychellois ancestry women(p-value = 3E-8 ;OR = 0.0264). 0.4 New genetic loci link adipose and insulin biology to body fat distribution. genome-wide association analysis NONHSAT168811.1 lncRNA Bmi-adjusted waist circumference 0.451 TAAACACCTC(G > A)AGCCTCTCGG chr14: 91962066 0.6072,0.3928 0.56140099388379204,0.43859900611620795 Region score:0.3; TSS score:0.26; Unmatched score:0.17; Average GERP:-1.1393564356435641 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000505470; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TRIP11; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000100815; TranscriptID:ENST00000267622; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000583 28443625 NONHSAT168811.1 rs2160077 A N/A 97,400 european ancestry women//63,892 european ancestry men//5,829 european ancestry individuals//10,500 african american/afro-caribbean ancestry women//2,706 african american/afro-caribbean ancestry men//1,030 indian asian ancestry women//7,648 indian asian ancestry men//1,793 filipino ancestry women//2,944 hispanic/latino ancestry women//1,764 hispanic/latino ancestry men; 21,496 european ancestry women//24,385 european ancestry men//118,364 european ancestry individuals//2,326 african american/afro-caribbean ancestry women//855 african american/afro-caribbean ancestry men EFO_0007789 adjusted for BMI (adjusted for smoking behaviour) Associate Waist circumference adjusted for bmi (adjusted for smoking behaviour) rs2160077-A of NONHSAT168811.1 is significantly associated with the waist circumference adjusted for bmi (adjusted for smoking behaviour) by using GWAS analysis in 97,400 european ancestry women//63,892 european ancestry men//5,829 european ancestry individuals//10,500 african american/afro-caribbean ancestry women//2,706 african american/afro-caribbean ancestry men//1,030 indian asian ancestry women//7,648 indian asian ancestry men//1,793 filipino ancestry women//2,944 hispanic/latino ancestry women//1,764 hispanic/latino ancestry men; 21,496 european ancestry women//24,385 european ancestry men//118,364 european ancestry individuals//2,326 african american/afro-caribbean ancestry women//855 african american/afro-caribbean ancestry men(p-value = 2E-8 ;OR = 0.0196). 0.4 Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits. genome-wide association analysis NONHSAT168811.1 lncRNA Bmi-adjusted waist circumference 0.451 TAAACACCTC(G > A)AGCCTCTCGG chr14: 91962066 0.6072,0.3928 0.56140099388379204,0.43859900611620795 Region score:0.3; TSS score:0.26; Unmatched score:0.17; Average GERP:-1.1393564356435641 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000505470; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TRIP11; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000100815; TranscriptID:ENST00000267622; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000584 28334935 NONHSAT139199.2 rs1050828 C N/A 12,589 hispanic/latino individuals EFO_0006333 N/A Associate Iron status biomarkers (transferrin saturation) rs1050828-C of NONHSAT139199.2 is significantly associated with the iron status biomarkers (transferrin saturation) by using GWAS analysis in 12,589 hispanic/latino individuals(p-value = 4E-7 ;OR = 0.21441). 0.4 Genome-wide association study of iron traits and relation to diabetes in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL): potential genomic intersection of iron and glucose regulation? genome-wide association analysis NONHSAT139199.2 lncRNA Transferrin saturation measurement 0.33 GCATAGCCCA(C > T)GATGAAGGTG chrX: 154536002 0.9624,0.03762 0.96296030835881753,0.03703969164118246 Region score:0.58; TSS score:0.29; Unmatched score:0.65; Average GERP:2.551158415841584 GeneName:G6PD; CADD-Score:7; Consquence:missense; GeneID:ENSG00000160211; TranscriptID:ENST00000621232; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000585 26030696 NONHSAT199568.1 rs62343714 T N/A 5,385 european ancestry chronic obstructive pulmonary disease cases//901 african american chronic obstructive pulmonary disease cases//3,613 european ancestry controls//2,132 african american controls EFO_0000341 N/A Associate Emphysema imaging phenotypes rs62343714-T of NONHSAT199568.1 is significantly associated with the emphysema imaging phenotypes by using GWAS analysis in 5,385 european ancestry chronic obstructive pulmonary disease cases//901 african american chronic obstructive pulmonary disease cases//3,613 european ancestry controls//2,132 african american controls(p-value = 1E-6 ;OR = 0.12). 0.4 A Genome-Wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes. genome-wide association analysis NONHSAT199568.1 lncRNA Chronic obstructive pulmonary disease 0.33 CCGCCCTCTG(T > A,C)GCATAACCTG chr4: 188905497 0.1206,.,0.8794 0.10551255096839959,0.00388634046890927,0.89060110856269113 Region score:0.27; TSS score:0.12; Unmatched score:0.08; Average GERP:0.060564356435643556 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000586 26192919 NONHSAT116067.2 rs9457247 ? N/A 5,956 european ancestry cases//14,927 european ancestry controls; 14,594 european ancestry cases//26,715 european ancestry controls//151 iranian ancestry cases//342 iranian ancestry controls//184 indian ancestry cases//990 indian ancestry controls//1,690 east asian ancestry cases//3,719 east asian ancestry controls EFO_0000384 N/A Associate Crohn's disease rs9457247-? of NONHSAT116067.2 is significantly associated with the crohn's disease by using GWAS analysis in 5,956 european ancestry cases//14,927 european ancestry controls; 14,594 european ancestry cases//26,715 european ancestry controls//151 iranian ancestry cases//342 iranian ancestry controls//184 indian ancestry cases//990 indian ancestry controls//1,690 east asian ancestry cases//3,719 east asian ancestry controls(p-value = 2E-18 ;OR = ?). 0.4 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. genome-wide association analysis NONHSAT116067.2 lncRNA Crohn's disease 0.33 TTTTGTGCCA(C > T)GCGTGGTGGC chr6: 166978686 0.6546,0.3454 0.57991685779816513,0.42008314220183486 Region score:0.24; TSS score:0.1; Unmatched score:0.07; Average GERP:0.052780198019802 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000812895; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:Z94721.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000227598; TranscriptID:ENST00000444102; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000587 18347602 NONHSAT167405.1 rs9512730 ? N/A 417 european ancestry cases//411 european ancestry controls//217 african american cases//219 african american controls//104 american indian//asian//pacific islander or hispanic/latino ancestry cases//103 american indian//asian//pacific islander or hispanic/latino ancestry controls EFO_0000692 N/A Associate Schizophrenia rs9512730-? of NONHSAT167405.1 is significantly associated with the schizophrenia by using GWAS analysis in 417 european ancestry cases//411 european ancestry controls//217 african american cases//219 african american controls//104 american indian//asian//pacific islander or hispanic/latino ancestry cases//103 american indian//asian//pacific islander or hispanic/latino ancestry controls(p-value = 5E-6 ;OR = 1.52). 0.4 Genomewide association for schizophrenia in the CATIE study: results of stage 1. genome-wide association analysis NONHSAT167405.1 lncRNA Schizophrenia 0.33 AGCACAGAGG(G > C)CCTGGGGAGT chr13: 27503007 0.8105,0.1895 0.75562245158002038,0.24437754841997961 Region score:0.23; TSS score:0.24; Unmatched score:0.16; Average GERP:-0.21702277227722772 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000588 26805933 mir-196a-2 rs11614913 C Dominant 1378 idiopathic infertile males and 486 fertile controls in chinese han population Orphanet_399980 N/A Increasing risk Idiopathic male infertility rs11614913-C of mir-196a-2 and its dysfunction is significantly associated with the increasing risk of idiopathic male infertility by using case-control analysis in 1378 idiopathic infertile males and 486 fertile controls in Chinese Han population. By using the disease cell lines or tissues, the interference of mir-196a-2 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 Common SNP in hsa-miR-196a-2 increases hsa-miR-196a-5p expression and predisposes to idiopathic male infertility in Chinese Han population. case-control analysis; Function hsa-mir-196a-2 miRNA Rare genetic male infertility 0.593 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000589 26152337 hsa-mir-149 rs2292832 T N/a 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs2292832-T of hsa-mir-149 and its dysfunction is not significantly associated with hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors. -0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. case-control analysis hsa-mir-149 miRNA Hepatocellular cancer 0 CTGGGGCAGC(T > A,C)GGAACAACGC chr2: 240456086 0.3866,.,0.6134 0.31987449031600407,0.00025484199796126,0.67987066768603465 Region score:0.3; TSS score:0.39; Unmatched score:0.89; Average GERP:1.5002722772277222 GeneName:AC110619.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000218416; TranscriptID:ENST00000404891; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GPC1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000063660; TranscriptID:ENST00000264039; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR149; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207611; TranscriptID:ENST00000384879; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000133146; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000589 30215231 miR-149 rs2292832 C N/A 100 hepatocellular carcinoma patients (70 males and 30 females) and 120 healthy controls (70 males and 50 females) in an Iranian Population. EFO_0000182 N/A increasing risk hepatocellular carcinoma rs2292832-C of hsa-mir-149 and its dysfunction is significantly associated with the increasing risk of Hepatocellular carcinoma by using case-control analysis in 100 hepatocellular carcinoma patients (70 males and 30 females) and 120 healthy controls (70 males and 50 females) in an Iranian Population. 0.4 Association of MicroRNA Polymorphisms With Hepatocellular Carcinoma in an Iranian Population. case-control analysis hsa-mir-149 miRNA Hepatocellular carcinoma 0 CTGGGGCAGC(T > A,C)GGAACAACGC chr2: 240456086 0.3866,.,0.6134 0.31987449031600407,0.00025484199796126,0.67987066768603465 Region score:0.3; TSS score:0.39; Unmatched score:0.89; Average GERP:1.5002722772277222 GeneName:AC110619.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000218416; TranscriptID:ENST00000404891; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GPC1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000063660; TranscriptID:ENST00000264039; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR149; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207611; TranscriptID:ENST00000384879; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000133146; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000590 23342264 miR-142 rs529802001 T Dominant 56 dlbcl cases EFO_0000403 N/A Increasing risk Diffuse large b-cell lymphoma rs529802001-T of miR-142 and its dysfunction is significantly associated with the increasing risk of diffuse large B-cell lymphoma by using analysis of sequence variation in 56 DLBCL cases. 0.4 MicroRNA-142 is mutated in about 20% of diffuse large B-cell lymphoma. analysis of sequence variation hsa-mir-142 miRNA Diffuse large b-cell lymphoma 0.33 ACCCTCCAGT(G > A)CTGTTAGTAG chr17: 58331277 N/A 0 N/A GeneName:AC004687.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000265206; TranscriptID:ENST00000579003; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR142; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000284353; TranscriptID:ENST00000384835; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR4736; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000264399; TranscriptID:ENST00000581591; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000096246; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TSPOAP1-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000265148; TranscriptID:ENST00000580515; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TSPOAP1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000005379; TranscriptID:ENST00000343736; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000591 29705927 miRNA-196a2 rs11614913 C N/a 40 patients with laryngeal squamous cell carcinoma (lscc) EFO_0006352 N/A Increasing risk Laryngeal squamous cell carcinoma rs11614913-C of miRNA-196a2 and its dysfunction is significantly associated with the increasing risk of laryngeal squamous cell carcinoma by using case-control analysis in 40 patients with laryngeal squamous cell carcinoma (LSCC). 0.4 Single nucleotide polymorphism rs11614913 associated with CC genotype in miR-196a2 is overrepresented in laryngeal squamous cell carcinoma, but not salivary gland tumors in Polish population. case-control analysis hsa-mir-196a-2 miRNA Laryngeal squamous cell cancer 0.33 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000592 25378659 NONHSAT187422.1 rs12623976 A N/A 10,129 european ancestry individuals EFO_0006796 N/A Associate Very long-chain saturated fatty acid levels (fatty acid 22:0) rs12623976-A of NONHSAT187422.1 is significantly associated with the very long-chain saturated fatty acid levels (fatty acid 22:0) by using GWAS analysis in 10,129 european ancestry individuals(p-value = 8E-6 ;OR = 4.469). 0.4 Genetic loci associated with circulating levels of very long-chain saturated fatty acids. genome-wide association analysis NONHSAT187422.1 lncRNA Very long-chain saturated fatty acid measurement 0.33 GTCAGGACCC(G > A)CTGCTTCTTG chr2: 119179107 0.761,0.239 0.80243374108053007,0.19756625891946992 Region score:0.39; TSS score:0.39; Unmatched score:0.26; Average GERP:-0.12628603960396045 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000618004; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000593 22028396 miR-608 rs4919510 ? N/A 408 CRC patients with surgically-resected adenocarcinoma EFO_0005842 N/A poor prognosis colorectal cancer rs4919510-? of hsa-mir-608 and its dysfunction is significantly associated with the increasing risk of Colorectal cancer by using case-control analysis in 408 CRC patients with surgically-resected adenocarcinoma 0.9 Genetic polymorphisms in pre-microRNA genes as prognostic markers of colorectal cancer. case-control analysis hsa-mir-608 miRNA Colorectal cancer 0.736 TGGGACAGCT(C > G)CGTTTAAAAA chr10: 100975021 0.6362,0.3638 0.70305332568807339,0.29694667431192660 Region score:0.54; TSS score:0.1; Unmatched score:0.51; Average GERP:-0.18896138613861369 GeneName:MIR608; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207551; TranscriptID:ENST00000384820; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MRPL43; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000055950; TranscriptID:ENST00000318325; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SEMA4G; CADD-Score:2; Consquence:intron; GeneID:ENSG00000095539; TranscriptID:ENST00000210633; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000593 22661538 mir608 rs4919510 G Dominant 1,097 patients with crc EFO_0005842 N/A Poor prognosis Colorectal cancer (crc) receiving first-line fluoropyrimidine-based chemotherapy rs4919510-G of mir608 and its dysfunction is significantly associated with the poor prognosis of colorectal cancer (CRC) receiving first-line fluoropyrimidine-based chemotherapy by using analysis of sequence variation in 1,097 patients with CRC. 0.4 Genetic polymorphisms in MicroRNA-related genes as predictors of clinical outcomes in colorectal adenocarcinoma patients. analysis of sequence variation hsa-mir-608 miRNA Colorectal cancer 0.736 TGGGACAGCT(C > G)CGTTTAAAAA chr10: 100975021 0.6362,0.3638 0.70305332568807339,0.29694667431192660 Region score:0.54; TSS score:0.1; Unmatched score:0.51; Average GERP:-0.18896138613861369 GeneName:MIR608; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207551; TranscriptID:ENST00000384820; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MRPL43; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000055950; TranscriptID:ENST00000318325; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SEMA4G; CADD-Score:2; Consquence:intron; GeneID:ENSG00000095539; TranscriptID:ENST00000210633; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000593 25368035 miR-608 rs4919510 G Dominant 1083 crc patients recruited in the czech republic EFO_0005842 N/A Better prognosis Colorectal cancer rs4919510-G of miR-608 and its dysfunction is significantly associated with the better prognosis of Colorectal cancer by using case-control analysis in 1083 CRC patients recruited in the Czech Republic. 0.4 Polymorphisms in microRNA genes as predictors of clinical outcomes in colorectal cancer patients. case-control analysis hsa-mir-608 miRNA Colorectal cancer 0.736 TGGGACAGCT(C > G)CGTTTAAAAA chr10: 100975021 0.6362,0.3638 0.70305332568807339,0.29694667431192660 Region score:0.54; TSS score:0.1; Unmatched score:0.51; Average GERP:-0.18896138613861369 GeneName:MIR608; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207551; TranscriptID:ENST00000384820; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MRPL43; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000055950; TranscriptID:ENST00000318325; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SEMA4G; CADD-Score:2; Consquence:intron; GeneID:ENSG00000095539; TranscriptID:ENST00000210633; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000593 27713147 miR-608 rs4919510 G Recessive 1358 0-III stage resected CRC patients and 1079 healthy controls EFO_0005842 N/A decreasing risk colorectal cancer rs4919510-G of hsa-mir-608 and its dysfunction is significantly associated with the decreasing risk of Colorectal cancer by using case-control analysis in 1358 0-III stage resected CRC patients and 1079 healthy controls 0.4 MiR-608, pre-miR-124-1 and pre-miR26a-1 polymorphisms modify susceptibility and recurrence-free survival in surgically resected CRC individuals. case-control analysis hsa-mir-608 miRNA Colorectal cancer 0.736 TGGGACAGCT(C > G)CGTTTAAAAA chr10: 100975021 0.6362,0.3638 0.70305332568807339,0.29694667431192660 Region score:0.54; TSS score:0.1; Unmatched score:0.51; Average GERP:-0.18896138613861369 GeneName:MIR608; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207551; TranscriptID:ENST00000384820; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MRPL43; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000055950; TranscriptID:ENST00000318325; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SEMA4G; CADD-Score:2; Consquence:intron; GeneID:ENSG00000095539; TranscriptID:ENST00000210633; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000594 27089181 NONHSAT165104.1 rs1961982 A N/A 105,739 european ancestry individuals//16,471 european ancestry major depressive disorder cases//58,835 european ancestry controls; 368,890 european ancestry individuals EFO_0003761 N/A Associate Depression rs1961982-A of NONHSAT165104.1 is significantly associated with the depression by using GWAS analysis in 105,739 european ancestry individuals//16,471 european ancestry major depressive disorder cases//58,835 european ancestry controls; 368,890 european ancestry individuals(p-value = 7E-7 ;OR = 4.971417). 0.4 Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses. genome-wide association analysis NONHSAT165104.1 lncRNA Unipolar depression 0.33 TACACCACCA(G > A)GGCCCTGGGT chr12: 103218955 0.7272,0.2728 0.72920648572884811,0.27079351427115188 Region score:0.25; TSS score:0.03; Unmatched score:0.01; Average GERP:0.14521782178217785 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000595 27863252 NONHSAT176124.1 rs112346425 C N/A 164,454 european ancestry individuals EFO_0004584 N/A Associate Mean platelet volume rs112346425-C of NONHSAT176124.1 is significantly associated with the mean platelet volume by using GWAS analysis in 164,454 european ancestry individuals(p-value = 6E-31 ;OR = 0.1097456). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT176124.1 lncRNA Mean platelet volume 0.33 CGCCTCCCGG(G > C,T)TTCAAACAAT chr17: 35680792 0.9577,0.04233,. 0.84140067533129459,0.04595916156982670,0.11264016309887869 Region score:0.37; TSS score:0.11; Unmatched score:0.02; Average GERP:-0.09661386138613864 GeneName:AP2B1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000006125; TranscriptID:ENST00000618940; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000596 28892062 NONHSAT224318.1 rs5945324 C N/A up to 72,390 japanese ancestry women//up to 85,894 japanese ancestry men; up to 10,048 japanese ancestry women//up to 5,098 japanese ancestry men//up to 181,999 european ancestry women//up to 140,155 european ancestry controls EFO_0001073 N/A Associate Body mass index rs5945324-C of NONHSAT224318.1 is significantly associated with the body mass index by using GWAS analysis in up to 72,390 japanese ancestry women//up to 85,894 japanese ancestry men; up to 10,048 japanese ancestry women//up to 5,098 japanese ancestry men//up to 181,999 european ancestry women//up to 140,155 european ancestry controls(p-value = 1E-11 ;OR = 0.022). 0.4 Genome-wide association study identifies 112 new loci for body mass index in the Japanese population. genome-wide association analysis NONHSAT224318.1 lncRNA Obesity 0.33 GTGTGTGTGT(G > C)TGTCTGTCTG chrX: 153629096 0.6326,0.3674 0.77990411569826707,0.22009588430173292 Region score:0.34; TSS score:0.32; Unmatched score:0.25; Average GERP:-0.06310870000000002 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000597 27910778 hsa-mir-1274a rs318039 ? N/A lung cancer EFO_0001071 N/A no significance for risk lung carcinoma rs318039-? of hsa-mir-1274a and its dysfunction is not significantly associated with Lung carcinoma by using analysis of sequence variation in lung cancer -0.4 miRSNPs of miR1274 and miR3202 Genes that Target MeCP2 and DNMT3b Are Associated with Lung Cancer Risk: A Study Conducted on MassARRAY Genotyping. analysis of sequence variation hsa-mir-1274a miRNA Lung carcinoma -0.33 CAGGCGCCAC(C > T)TGTGGCTGTC chr5: 41475664 0.6348,0.3652 0.61917845310907237,0.38082154689092762 Region score:0.25; TSS score:0.1; Unmatched score:0.04; Average GERP:0.12499999999999988 GeneName:PLCXD3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000182836; TranscriptID:ENST00000377801; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000598 18464913 NONHSAT152242.1 rs4950322 ? N/A 1,200 european ancestry individuals; up to 4,590 european ancestry individuals EFO_0004509 N/A Associate Protein quantitative trait loci rs4950322-? of NONHSAT152242.1 is significantly associated with the protein quantitative trait loci by using GWAS analysis in 1,200 european ancestry individuals; up to 4,590 european ancestry individuals(p-value = 7E-7 ;OR = ?). 0.4 A genome-wide association study identifies protein quantitative trait loci (pQTLs). genome-wide association analysis NONHSAT152242.1 lncRNA Hemoglobin measurement 0.33 GCAGGAAACA(G > A)TGGGTTAAGC chr1: 147383114 0.852,0.148 0.83190781090723751,0.16809218909276248 Region score:0.54; TSS score:0.29; Unmatched score:0.03; Average GERP:-0.44525940594059393 GeneName:LINC00624; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000278811; TranscriptID:ENST00000621316; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000599 29228715 NONHSAT163907.1 rs829883 ? N/A 636 austrian ancestry cases//4,294 european ancestry controls EFO_0005406 N/A Associate Colorectal adenoma (advanced) rs829883-? of NONHSAT163907.1 is significantly associated with the colorectal adenoma (advanced) by using GWAS analysis in 636 austrian ancestry cases//4,294 european ancestry controls(p-value = 4E-6 ;OR = 1.3734376). 0.4 Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas. genome-wide association analysis NONHSAT163907.1 lncRNA Colorectal adenoma 0.33 GTATTCCTAT(G > A)GATTGATAAG chr12: 98485828 0.1741,0.8259 0.26630988786952089,0.73369011213047910 Region score:0.36; TSS score:0.84; Unmatched score:0.89; Average GERP:0.9764920792079206 GeneName:LINC02453; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000245017; TranscriptID:ENST00000501499; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000600 28928442 NONHSAT108569.2 rs17186335 ? N/A 60,098 european ancestry cases//113,323 european ancestry controls EFO_0007924 N/A Associate Tonsillectomy rs17186335-? of NONHSAT108569.2 is significantly associated with the tonsillectomy by using GWAS analysis in 60,098 european ancestry cases//113,323 european ancestry controls(p-value = 3E-8 ;OR = 0.0898). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. genome-wide association analysis NONHSAT108569.2 lncRNA Tonsillectomy risk measurement 0.33 TGAGGCCACC(C > A)TGAGGTGCTG chr6: 29957491 0.9469,0.05312 0.95219323394495412,0.04780676605504587 Region score:0.43; TSS score:0.38; Unmatched score:0.59; Average GERP:1.1918366336633666 GeneName:HLA-W; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000235290; TranscriptID:ENST00000439514; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000601 23555923 hsa-mir-30c-1 rs16827546 T N/A 191 patients with TNBC and 192 healthy female controls EFO_0005537 N/A no significance for risk triple-negative breast cancer rs16827546-T of hsa-mir-30c-1 and its dysfunction is not significantly associated with Triple-negative breast cancer by using case-control analysis in 191 patients with TNBC and 192 healthy female controls -0.4 There is no association between microRNA gene polymorphisms and risk of triple negative breast cancer in a Chinese Han population. case-control analysis hsa-mir-30c-1 miRNA Triple-negative breast cancer -0.33 ACACAGGTCA(C > T)TCCGGATCAG chr1: 40757217 0.9213,0.07867 0.92405708460754332,0.07594291539245667 Region score:0.7; TSS score:0.51; Unmatched score:0.7; Average GERP:1.7444316831683169 GeneName:MIR30C1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207962; TranscriptID:ENST00000385227; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR30E; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000198974; TranscriptID:ENST00000362104; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NFYC; CADD-Score:2; Consquence:intron; GeneID:ENSG00000066136; TranscriptID:ENST00000308733; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000602 26634245 NONHSAT204868.1 rs115854050 A N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio rs115854050-A of NONHSAT204868.1 is significantly associated with the post bronchodilator fev1/fvc ratio by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 4E-6 ;OR = 0.119). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT204868.1 lncRNA Pulmonary function measurement 0.33 GGTGCATCCA(G > A)CTCTCAAAGA chr5: 150404756 0.9998,0.0001997 0.99999203618756371,0.00000796381243628 Region score:0.46; TSS score:0.64; Unmatched score:0.77; Average GERP:1.697084158415841 GeneName:CD74; CADD-Score:5; Consquence:synonymous; GeneID:ENSG00000019582; TranscriptID:ENST00000009530; AnnoType:SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TCOF1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000070814; TranscriptID:ENST00000377797; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000603 26301497 NONHSAT037625.2 rs17767392 T N/A 1,442 european ancestry cases//2,439 european ancestry controls; 1,422 european ancestry cases//6,779 european ancestry controls HP_0001634 N/A Associate Mitral valve prolapse rs17767392-T of NONHSAT037625.2 is significantly associated with the mitral valve prolapse by using GWAS analysis in 1,442 european ancestry cases//2,439 european ancestry controls; 1,422 european ancestry cases//6,779 european ancestry controls(p-value = 2E-8 ;OR = 1.23). 0.4 Genetic association analyses highlight biological pathways underlying mitral valve prolapse. genome-wide association analysis NONHSAT037625.2 lncRNA Mitral valve prolapse 0.33 CTTGCAGATG(C > T)TGTTGATTTG chr14: 71298060 0.8914,0.1086 0.83660646024464831,0.16339353975535168 Region score:0.49; TSS score:0.33; Unmatched score:0.18; Average GERP:-0.11533801980198019 GeneName:AC005476.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000259146; TranscriptID:ENST00000555771; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000604 19767753 NONHSAT200257.1 rs7679673 ? N/A 1,854 european ancestry cases//1,894 european ancestry controls; 19,879 cases and 18,761 controls of european//east asian//african american//latino//and hawaiian ancestry EFO_0001663 N/A Associate Prostate cancer rs7679673-? of NONHSAT200257.1 is significantly associated with the prostate cancer by using GWAS analysis in 1,854 european ancestry cases//1,894 european ancestry controls; 19,879 cases and 18,761 controls of european//east asian//african american//latino//and hawaiian ancestry(p-value = 3E-14 ;OR = 1.1). 0.4 Identification of seven new prostate cancer susceptibility loci through a genome-wide association study. genome-wide association analysis NONHSAT200257.1 lncRNA Prostate cancer 0.52 ATTTTTGACA(C > A)AACTCTATCA chr4: 105140377 0.4083,0.5917 0.48941609327217125,0.51058390672782874 Region score:0.14; TSS score:0.18; Unmatched score:0.43; Average GERP:-0.9553586138613857 GeneName:AC004069.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000251259; TranscriptID:ENST00000504082; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000171428; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000604 26034056 NONHSAT200257.1 rs7679673 C N/A 6,406 european ancestry cases//601 african american cases//288 east asian ancestry cases//488 latino cases30,866 european ancestry controls//1,650 african american controls//2,938 east asian ancestry controls//3,141 latino controls; 4,599 european ancestry cases//2,265 african american cases//2,940 european ancestry controls//2,414 african american controls EFO_0001663 N/A Associate Prostate cancer rs7679673-C of NONHSAT200257.1 is significantly associated with the prostate cancer by using GWAS analysis in 6,406 european ancestry cases//601 african american cases//288 east asian ancestry cases//488 latino cases30,866 european ancestry controls//1,650 african american controls//2,938 east asian ancestry controls//3,141 latino controls; 4,599 european ancestry cases//2,265 african american cases//2,940 european ancestry controls//2,414 african american controls(p-value = 5E-8 ;OR = 1.12). 0.4 A large multiethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences. genome-wide association analysis NONHSAT200257.1 lncRNA Prostate cancer 0.52 ATTTTTGACA(C > A)AACTCTATCA chr4: 105140377 0.4083,0.5917 0.48941609327217125,0.51058390672782874 Region score:0.14; TSS score:0.18; Unmatched score:0.43; Average GERP:-0.9553586138613857 GeneName:AC004069.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000251259; TranscriptID:ENST00000504082; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000171428; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000604 25939597 NONHSAT200257.1 rs7679673 C N/A 4,600 european ancestry cases//2,941 european ancestry controls; 7,779 european ancestry cases//7,623 european ancestry controls EFO_0001663 N/A Associate Prostate cancer rs7679673-C of NONHSAT200257.1 is significantly associated with the prostate cancer by using GWAS analysis in 4,600 european ancestry cases//2,941 european ancestry controls; 7,779 european ancestry cases//7,623 european ancestry controls(p-value = 4E-9 ;OR = 1.12). 0.4 Two susceptibility loci identified for prostate cancer aggressiveness. genome-wide association analysis NONHSAT200257.1 lncRNA Prostate cancer 0.52 ATTTTTGACA(C > A)AACTCTATCA chr4: 105140377 0.4083,0.5917 0.48941609327217125,0.51058390672782874 Region score:0.14; TSS score:0.18; Unmatched score:0.43; Average GERP:-0.9553586138613857 GeneName:AC004069.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000251259; TranscriptID:ENST00000504082; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000171428; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000605 25187374 NONHSAT120359.2 rs730497 ? N/A 24,740 east asian ancestry individuals; 21,345 east asian ancestry individuals EFO_0001360 N/A Associate Fasting plasma glucose rs730497-? of NONHSAT120359.2 is significantly associated with the fasting plasma glucose by using GWAS analysis in 24,740 east asian ancestry individuals; 21,345 east asian ancestry individuals(p-value = 8E-27 ;OR = 0.121). 0.4 Genome-wide association meta-analysis identifies novel variants associated with fasting plasma glucose in East Asians. genome-wide association analysis NONHSAT120359.2 lncRNA Type ii diabetes mellitus 0.451 CAAGGCCCCC(G > A)TGTGCTCAAT chr7: 44184122 0.8289,0.1711 0.81794724770642201,0.18205275229357798 Region score:0.26; TSS score:0.33; Unmatched score:0.31; Average GERP:-0.48902772277227735 GeneName:GCK; CADD-Score:2; Consquence:intron; GeneID:ENSG00000106633; TranscriptID:ENST00000403799; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000605 19096518 NONHSAT120359.2 rs730497 A N/A 14,618 european ancestry females; 455 european ancestry individuals EFO_0001360 N/A Associate Glycated hemoglobin levels rs730497-A of NONHSAT120359.2 is significantly associated with the glycated hemoglobin levels by using GWAS analysis in 14,618 european ancestry females; 455 european ancestry individuals(p-value = 6E-12 ;OR = 0.03). 0.4 Novel association of HK1 with glycated hemoglobin in a non-diabetic population: a genome-wide evaluation of 14,618 participants in the Women's Genome Health Study. genome-wide association analysis NONHSAT120359.2 lncRNA Type ii diabetes mellitus 0.451 CAAGGCCCCC(G > A)TGTGCTCAAT chr7: 44184122 0.8289,0.1711 0.81794724770642201,0.18205275229357798 Region score:0.26; TSS score:0.33; Unmatched score:0.31; Average GERP:-0.48902772277227735 GeneName:GCK; CADD-Score:2; Consquence:intron; GeneID:ENSG00000106633; TranscriptID:ENST00000403799; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000606 27863252 NONHSAT171074.1 rs34483751 A N/A 170,763 european ancestry individuals EFO_0007986 N/A Associate High light scatter reticulocyte count rs34483751-A of NONHSAT171074.1 is significantly associated with the high light scatter reticulocyte count by using GWAS analysis in 170,763 european ancestry individuals(p-value = 8E-12 ;OR = 0.02586678). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT171074.1 lncRNA Reticulocyte count 0.33 ATCTCCTGGA(C > A)CAGGGTTTCT chr15: 80054439 0.5962,0.4038 0.49385990061162079,0.50614009938837920 Region score:0.42; TSS score:0.46; Unmatched score:0.5; Average GERP:0.03549801980198019 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000522917; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF00017; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000275460; TranscriptID:ENST00000610909; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000607 27601451 6p22.3 rs10456847 G Dominant 16,415 hispanic/latino individuals EFO_0006343 N/A Increasing risk Chronic periodontitis rs10456847-G of 6p22.3 and its dysfunction is significantly associated with the increasing risk of Chronic periodontitis by using genome-wide association analysis in 16,415 Hispanic/Latino individuals. 0.4 Chronic Periodontitis Genome-wide Association Study in the Hispanic Community Health Study / Study of Latinos. genome-wide association analysis 6p22.3 Noncoding region Chronic periodontitis 0.33 GTCATTATCT(C > G)TAGCCTAAAT chr6: 18954940 0.6316,0.3684 0.62722986748216106,0.37277013251783893 Region score:0.26; TSS score:0.14; Unmatched score:0.03; Average GERP:-0.2637100990099012 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000608 27863252 NONHSAT152395.1 rs1050316 T N/A 164,339 european ancestry individuals EFO_0007985 N/A Associate Plateletcrit rs1050316-T of NONHSAT152395.1 is significantly associated with the plateletcrit by using GWAS analysis in 164,339 european ancestry individuals(p-value = 2E-14 ;OR = 0.0295196). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT152395.1 lncRNA Plateletcrit 0.33 CAGACTAATG(G > T)TGGGAATAGC chr1: 156464911 0.4277,0.5723 0.45537079510703363,0.54462920489296636 Region score:0.48; TSS score:0.76; Unmatched score:0.67; Average GERP:0.20988415841584157 GeneName:MEF2D; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000116604; TranscriptID:ENST00000348159; AnnoType:3PRIME_UTR; mirSVR-Score:-0.1669; mirSVR-E:-18.32 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000373959; AnnoType:REGULATORY; mirSVR-Score:-0.1669; mirSVR-E:-18.32 | NCRV0000000609 23743675 NONHSAT188853.1 rs62202398 ? N/A 2,322 european ancestry individuals from 118 families//2,593 european ancestry individuals; EFO_0003829 N/A Associate Alcohol consumption rs62202398-? of NONHSAT188853.1 is significantly associated with the alcohol consumption by using GWAS analysis in 2,322 european ancestry individuals from 118 families//2,593 european ancestry individuals; (p-value = 9E-6 ;OR = 0.15). 0.4 A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks. genome-wide association analysis NONHSAT188853.1 lncRNA Alcohol dependence 0.33 GCCACACCAC(G > A,C)GGTGTGGAAT chr20: 48172481 0.8373,0.1627,. 0.90854357798165137,0.09140863914373088,0.00004778287461773 Region score:0.32; TSS score:0.28; Unmatched score:0.12; Average GERP:-0.8717950495049505 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000610 27863252 NONHSAT217648.1 rs1982094 T N/A 170,384 european ancestry individuals EFO_0009390 N/A Associate Sum neutrophil eosinophil counts rs1982094-T of NONHSAT217648.1 is significantly associated with the sum neutrophil eosinophil counts by using GWAS analysis in 170,384 european ancestry individuals(p-value = 3E-16 ;OR = 0.07404138). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT217648.1 lncRNA Sum of neutrophil and eosinophil counts 0.33 CCTAACTTTC(C > T)CTTCCATCTC chr8: 129612570 0.8864,0.1136 0.94813965341488277,0.05186034658511722 Region score:0.34; TSS score:0.31; Unmatched score:0.12; Average GERP:-0.08521782178217828 GeneName:CCDC26; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000229140; TranscriptID:ENST00000446592; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000611 29773352 ANRIL rs10738607 A N/a 200 atherothrombotic stroke cases and 205 controls EFO_1001976 N/A No significance for risk Atherothrombotic stroke rs10738607-A of ANRIL and its dysfunction is not significantly associated with atherothrombotic stroke by using case-control analysis in 200 atherothrombotic stroke cases and 205 controls. -0.4 The ANRIL Genetic Variants and Their Interactions with Environmental Risk Factors on Atherothrombotic Stroke in a Han Chinese Population. case-control analysis ANRIL lncRNA Cardioembolic stroke -0.33 TCATGCAGTG(A > G)CTTCTAAAAT chr9: 22088095 0.5435,0.4565 0.57130001274209989,0.42869998725790010 Region score:0.29; TSS score:0.27; Unmatched score:0.12; Average GERP:-0.4827212871287127 GeneName:CDKN2B-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000240498; TranscriptID:ENST00000428597; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000612 27951730 WT1-AS rs619586 G N/A 313 AML patients EFO_0000222 N/A no significance for prognosis acute myeloid leukemia rs619586-G of WT1-AS and its dysfunction is not significantly associated with Acute myeloid leukemia by using analysis of sequence variation in 313 AML patients -0.4 Long non-coding RNA GAS5 polymorphism predicts a poor prognosis of acute myeloid leukemia in Chinese patients via affecting hematopoietic reconstitution. analysis of sequence variation WT1-AS lncRNA Acute myeloid leukemia -0.33 AACTATACCT(A > G)CTGTCCCTCA chr11: 65498698 0.9339,0.06609 0.96578746177370030,0.03421253822629969 Region score:0.55; TSS score:0.57; Unmatched score:0.77; Average GERP:-1.3899496039603956 GeneName:AP000769.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000270117; TranscriptID:ENST00000602344; AnnoType:UPSTREAM; mirSVR-Score:-0.0175; mirSVR-E:-22.38 | GeneName:MALAT1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000251562; TranscriptID:ENST00000534336; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0175; mirSVR-E:-22.38 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000432700; AnnoType:REGULATORY; mirSVR-Score:-0.0175; mirSVR-E:-22.38 | GeneName:RF01871; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000278217; TranscriptID:ENST00000618249; AnnoType:UPSTREAM; mirSVR-Score:-0.0175; mirSVR-E:-22.38 | NCRV0000000613 23408906 NONHSAT112932.2 rs11755845 T N/A up to 14,459 european ancestry females//up to 10,936 european ancestry males//up to 433 old order amish females//up to 592 old order amish males EFO_1000627 N/A Associate Thyroid hormone levels rs11755845-T of NONHSAT112932.2 is significantly associated with the thyroid hormone levels by using GWAS analysis in up to 14,459 european ancestry females//up to 10,936 european ancestry males//up to 433 old order amish females//up to 592 old order amish males(p-value = 2E-10 ;OR = 0.065). 0.4 A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function. genome-wide association analysis NONHSAT112932.2 lncRNA Thyroid disease 0.33 ATCTGGTTCC(C > T)GGAAGAGATC chr6: 43937043 0.8091,0.1909 0.78940494393476044,0.21059505606523955 Region score:0.41; TSS score:0.5; Unmatched score:0.35; Average GERP:-0.42652277227722774 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:-0.1979; mirSVR-E:-16.82 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000791209; AnnoType:REGULATORY; mirSVR-Score:-0.1979; mirSVR-E:-16.82 | NCRV0000000614 28240269 NONHSAT181094.1 rs11553746 T N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0008213 N/A Associate Blood protein levels rs11553746-T of NONHSAT181094.1 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 1E-257 ;OR = 1.237). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. genome-wide association analysis NONHSAT181094.1 lncRNA Low molecular weight phosphotyrosine protein phosphatase measurement 0.33 GGGTCATTGA(C > T)AGCGGTGCTG chr2: 272203 0.7566,0.2434 0.73032938328236493,0.26967061671763506 Region score:0.51; TSS score:0.37; Unmatched score:0.62; Average GERP:3.192663366336633 GeneName:ACP1; CADD-Score:5; Consquence:synonymous; GeneID:ENSG00000143727; TranscriptID:ENST00000272067; AnnoType:SYNONYMOUS; mirSVR-Score:-0.4964; mirSVR-E:-16.56 | NCRV0000000615 29151059 NONHSAT150661.1 rs1151814 C N/A 5,075 bangladeshi ancestry individuals EFO_0004505 N/A Associate Telomere length rs1151814-C of NONHSAT150661.1 is significantly associated with the telomere length by using GWAS analysis in 5,075 bangladeshi ancestry individuals(p-value = 2E-6 ;OR = 0.16). 0.4 Genome-wide association study of telomere length among South Asians identifies a second RTEL1 association signal. genome-wide association analysis NONHSAT150661.1 lncRNA Telomere length 0.33 CTTCTCCTCA(T > C)TGCCCCTCCT chr1: 226516923 0.7446,0.2554 0.74241048674821610,0.25758951325178389 Region score:0.32; TSS score:0.29; Unmatched score:0.14; Average GERP:-0.570191089108911 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000616 29221444 NONHSAT186051.1 rs6754498 ? N/A 691 african american individuals; 205 african american individuals EFO_0004723 N/A Associate Coronary artery calcified atherosclerotic plaque score in type 2 diabetes rs6754498-? of NONHSAT186051.1 is significantly associated with the coronary artery calcified atherosclerotic plaque score in type 2 diabetes by using GWAS analysis in 691 african american individuals; 205 african american individuals(p-value = 6E-7 ;OR = 0.832). 0.4 Genome-wide association study of coronary artery calcified atherosclerotic plaque in African Americans with type 2 diabetes. genome-wide association analysis NONHSAT186051.1 lncRNA Coronary artery calcification 0.33 GAAAAAGCCT(A > C,G,T)ATTTGTAGCA chr2: 185953121 N/A 1 Region score:0.34; TSS score:0.02; Unmatched score:0.07; Average GERP:-0.07277938144329894 GeneName:RPL21P32; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000224019; TranscriptID:ENST00000419877; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000617 27539887 NONHSAT195879.1 rs2116709 A N/A 12.945 european ancestry cases//274,252 european ancestry controls; 4,242 european ancestry cases//12,802 european ancestry controls EFO_0004193 N/A Associate Basal cell carcinoma rs2116709-A of NONHSAT195879.1 is significantly associated with the basal cell carcinoma by using GWAS analysis in 12.945 european ancestry cases//274,252 european ancestry controls; 4,242 european ancestry cases//12,802 european ancestry controls(p-value = 2E-17 ;OR = 1.1111112). 0.4 Genome-wide association study identifies 14 novel risk alleles associated with basal cell carcinoma. genome-wide association analysis NONHSAT195879.1 lncRNA Basal cell cancer 0.33 GTTTATTTTT(T > A)AAAAAAGCAA chr3: 71572518 0.5781,0.4219 0.44878472222222222,0.55121527777777777 Region score:0.37; TSS score:0.28; Unmatched score:0.45; Average GERP:-0.23796633663366334 GeneName:AC097634.2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000274387; TranscriptID:ENST00000615819; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC097634.4; CADD-Score:2; Consquence:intron; GeneID:ENSG00000285708; TranscriptID:ENST00000647725; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:FOXP1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000114861; TranscriptID:ENST00000615603; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:FOXP1-IT1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000242094; TranscriptID:ENST00000498714; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000618 27863252 NONHSAT208128.1 rs35304300 G N/A 164,454 european ancestry individuals EFO_0004584 N/A Associate Mean platelet volume rs35304300-G of NONHSAT208128.1 is significantly associated with the mean platelet volume by using GWAS analysis in 164,454 european ancestry individuals(p-value = 1E-10 ;OR = 0.02937207). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT208128.1 lncRNA Mean platelet volume 0.33 CTTTTCCTCT(A > G)ATTTGGTTTC chr6: 139536204 0.8568,0.1432 0.85122005606523955,0.14877994393476044 Region score:0.45; TSS score:0.38; Unmatched score:0.09; Average GERP:0.1450128712871289 GeneName:AL592429.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000226571; TranscriptID:ENST00000648888; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000619 24132900 NONHSAT189413.1 rs6081541 ? N/A 47 japanese ancestry cases//882 japanese ancestry controls EFO_0005407 N/A Associate Psychosis (atypical) rs6081541-? of NONHSAT189413.1 is significantly associated with the psychosis (atypical) by using GWAS analysis in 47 japanese ancestry cases//882 japanese ancestry controls(p-value = 1E-6 ;OR = ?). 0.4 Genome-wide association study of atypical psychosis. genome-wide association analysis NONHSAT189413.1 lncRNA Psychosis 0.33 ATTTCCATTT(A > G)AGGATCAAAC chr20: 19232246 0.7871,0.2129 0.80428930937818552,0.19571069062181447 Region score:0.3; TSS score:0.3; Unmatched score:0.07; Average GERP:-0.45784158415841575 GeneName:SLC24A3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000185052; TranscriptID:ENST00000328041; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000620 28448500 NONHSAT160117.1 rs1330 T N/A 2,518 african american women//85,730 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//54,792 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men EFO_0007789 joint analysis main effects and physical activity interaction Associate Waist circumference adjusted for bmi in active individuals rs1330-T of NONHSAT160117.1 is significantly associated with the waist circumference adjusted for bmi in active individuals by using GWAS analysis in 2,518 african american women//85,730 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//54,792 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men(p-value = 3E-7 ;OR = 0.0234). 0.4 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. genome-wide association analysis NONHSAT160117.1 lncRNA Bmi-adjusted waist circumference 0.451 AAAAAATTGG(C > T)ATAAAGATAG chr11: 17294482 0.7007,0.2993 0.69751847604485219,0.30248152395514780 Region score:0.32; TSS score:0.14; Unmatched score:0.3; Average GERP:0.5772514851485151 GeneName:NUCB2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000070081; TranscriptID:ENST00000529010; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000620 28448500 NONHSAT160117.1 rs1330 ? N/A 2,518 african american women//85,730 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//54,792 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men EFO_0007789 joint analysis main effects and physical activity interaction Associate Waist circumference adjusted for bmi (joint analysis main effects and physical activity interaction) rs1330-? of NONHSAT160117.1 is significantly associated with the waist circumference adjusted for bmi (joint analysis main effects and physical activity interaction) by using GWAS analysis in 2,518 african american women//85,730 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//54,792 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men(p-value = 4E-7 ;OR = ?). 0.4 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. genome-wide association analysis NONHSAT160117.1 lncRNA Bmi-adjusted waist circumference 0.451 AAAAAATTGG(C > T)ATAAAGATAG chr11: 17294482 0.7007,0.2993 0.69751847604485219,0.30248152395514780 Region score:0.32; TSS score:0.14; Unmatched score:0.3; Average GERP:0.5772514851485151 GeneName:NUCB2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000070081; TranscriptID:ENST00000529010; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000621 26691988 NONHSAT200285.1 rs141853578 ? N/A 16,144 european ancestry cases//17,832 european ancestry controls; 473 asian ancestry cases//1,099 asian ancestry controls//52 african ancestry cases//361 african ancestry cases//254 other non-european ancestry cases//694 other non-european ancestry controls EFO_0001365 N/A Associate Advanced age-related macular degeneration rs141853578-? of NONHSAT200285.1 is significantly associated with the advanced age-related macular degeneration by using GWAS analysis in 16,144 european ancestry cases//17,832 european ancestry controls; 473 asian ancestry cases//1,099 asian ancestry controls//52 african ancestry cases//361 african ancestry cases//254 other non-european ancestry cases//694 other non-european ancestry controls(p-value = 6E-10 ;OR = 3.64). 0.4 A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants. genome-wide association analysis NONHSAT200285.1 lncRNA Age-related macular degeneration 0.33 TCTGTATTTC(C > T)ATGCTTCAAG chr4: 109764664 N/A 0.99953013506625891,0.00046986493374108 Region score:0.51; TSS score:0.43; Unmatched score:0.65; Average GERP:1.252424752475248 GeneName:AC126283.2; CADD-Score:7; Consquence:missense; GeneID:ENSG00000285330; TranscriptID:ENST00000645635; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CFI; CADD-Score:7; Consquence:missense; GeneID:ENSG00000205403; TranscriptID:ENST00000394635; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000622 27863252 NONHSAT029933.2 rs4761702 C N/A 170,548 european ancestry individuals EFO_0007986 N/A Associate Immature fraction of reticulocytes rs4761702-C of NONHSAT029933.2 is significantly associated with the immature fraction of reticulocytes by using GWAS analysis in 170,548 european ancestry individuals(p-value = 8E-9 ;OR = 0.02113317). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT029933.2 lncRNA Reticulocyte count 0.33 AAGTGCATAA(T > C)AAGTGCCTTA chr12: 93316116 0.6452,0.3548 0.64524401121304791,0.35475598878695208 Region score:0.45; TSS score:0.58; Unmatched score:0.81; Average GERP:0.26418019801980197 GeneName:AC124947.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000257252; TranscriptID:ENST00000552835; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC124947.2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000257512; TranscriptID:ENST00000547118; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000623 26562150 NONHSAT216026.1 rs6998967 G N/A 532 european ancestry cases//2,128 european ancestry controls EFO_1001490 N/A Associate Late-onset myasthenia gravis rs6998967-G of NONHSAT216026.1 is significantly associated with the late-onset myasthenia gravis by using GWAS analysis in 532 european ancestry cases//2,128 european ancestry controls(p-value = 9E-10 ;OR = 1.8867927). 0.4 Genome-Wide Association Study of Late-Onset Myasthenia Gravis: Confirmation of TNFRSF11A and Identification of ZBTB10 and Three Distinct HLA Associations. genome-wide association analysis NONHSAT216026.1 lncRNA Late-onset myasthenia gravis 0.33 GATAAATACC(G > A)TGGGTGCTAC chr8: 80451970 0.771,0.229 0.76956708715596330,0.23043291284403669 Region score:0.28; TSS score:0.03; Unmatched score:0; Average GERP:0.033087878787878736 GeneName:AC034114.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000253238; TranscriptID:ENST00000644465; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000624 28476931 NONHSAT192950.1 rs1997885 C N/A 509 pima indian ancestry individuals EFO_0001073 N/A Associate Resting metabolic rate rs1997885-C of NONHSAT192950.1 is significantly associated with the resting metabolic rate by using GWAS analysis in 509 pima indian ancestry individuals(p-value = 2E-6 ;OR = 59.6454). 0.4 A Genome-Wide Association Study Using a Custom Genotyping Array Identifies Variants in GPR158 Associated With Reduced Energy Expenditure in American Indians. genome-wide association analysis NONHSAT192950.1 lncRNA Obesity 0.33 CAGGGCAGGG(T > C)GTACAACAGA chr22: 42787756 0.5998,0.4002 0.57675522426095820,0.42324477573904179 Region score:0.22; TSS score:0.35; Unmatched score:0.42; Average GERP:0.08223762376237641 GeneName:AL049757.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000274717; TranscriptID:ENST00000616842; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GOLGA2P4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000229608; TranscriptID:ENST00000441462; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000673168; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000625 22829776 NONHSAT161941.1 rs4149056 T N/A 21,791 european ancestry individuals; 8,175 european ancestry individuals EFO_0004696 N/A Associate Sex hormone-binding globulin levels rs4149056-T of NONHSAT161941.1 is significantly associated with the sex hormone-binding globulin levels by using GWAS analysis in 21,791 european ancestry individuals; 8,175 european ancestry individuals(p-value = 2E-8 ;OR = 0.029). 0.4 A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation. genome-wide association analysis NONHSAT161941.1 lncRNA Sex hormone-binding globulin measurement 0.33 TGGATATATG(T > C)GTTCATGGGT chr12: 21178615 0.9123,0.08766 0.88942246432212028,0.11057753567787971 Region score:0.23; TSS score:0.25; Unmatched score:0.35; Average GERP:1.2973861386138623 GeneName:AC022335.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000257062; TranscriptID:ENST00000543498; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SLCO1B1; CADD-Score:7; Consquence:missense; GeneID:ENSG00000134538; TranscriptID:ENST00000256958; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000626 27182965 NONHSAT153671.1 rs11581903 ? N/A 64,143 european ancestry individuals EFO_0007905 N/A Associate Joint mobility (beighton score) rs11581903-? of NONHSAT153671.1 is significantly associated with the joint mobility (beighton score) by using GWAS analysis in 64,143 european ancestry individuals(p-value = 2E-7 ;OR = 0.078). 0.4 Detection and interpretation of shared genetic influences on 42 human traits. genome-wide association analysis NONHSAT153671.1 lncRNA Joint hypermobility measurement 0.33 AGGCTAGCCA(G > A)GCGTGGTAGC chr1: 52565151 0.9239,0.07608 0.89013124362895005,0.10986875637104994 Region score:0.42; TSS score:0.12; Unmatched score:0.05; Average GERP:0.125079207920792 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000627 27126917 NONHSAT199037.1 rs62324204 C N/A 941 european ancestry individuals EFO_0008568 N/A Associate Night sleep phenotypes rs62324204-C of NONHSAT199037.1 is significantly associated with the night sleep phenotypes by using GWAS analysis in 941 european ancestry individuals(p-value = 1E-6 ;OR = 0.4116). 0.4 Genome-wide association analysis of actigraphic sleep phenotypes in the LIFE Adult Study. genome-wide association analysis NONHSAT199037.1 lncRNA Sleep disorder 0.33 N/A N/A N/A N/A N/A N/A NCRV0000000628 24927181 NONHSAT204996.1 rs13153995 C N/A 1,893 european ancestry cases//5,132 european ancestry controls; 2,063 european ancestry cases//1,970 european ancestry controls EFO_0003894 N/A Associate Acne (severe) rs13153995-C of NONHSAT204996.1 is significantly associated with the acne (severe) by using GWAS analysis in 1,893 european ancestry cases//5,132 european ancestry controls; 2,063 european ancestry cases//1,970 european ancestry controls(p-value = 3E-6 ;OR = 1.22). 0.4 Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris. genome-wide association analysis NONHSAT204996.1 lncRNA Acne 0.33 AAGGGGCAAT(T > A,C,G)TCACTCACAA chr5: 170197768 N/A 0.78511244903160040,0.00015131243628950,0.21473623853211009,. Region score:0.36; TSS score:0.41; Unmatched score:0.54; Average GERP:2.129485148514852 GeneName:LINC01187; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000249601; TranscriptID:ENST00000506431; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000629 19359265 NONHSAT177655.1 rs2162440 G N/A 1,625 european ancestry females; 1,165 european ancestry individuals EFO_0004505 N/A Associate Telomere length rs2162440-G of NONHSAT177655.1 is significantly associated with the telomere length by using GWAS analysis in 1,625 european ancestry females; 1,165 european ancestry individuals(p-value = 3E-6 ;OR = 106.0). 0.4 A genome-wide association study identifies a novel locus on chromosome 18q12.2 influencing white cell telomere length. genome-wide association analysis NONHSAT177655.1 lncRNA Telomere length 0.33 TTTTAACCCT(A > G,T)CAGTCTGAGC chr18: 37634043 0.3221,0.6779,. 0.26204128440366972,0.71925968399592252,0.01869903160040774 Region score:0.44; TSS score:0.36; Unmatched score:0.05; Average GERP:-0.5525485148514852 GeneName:AC009899.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000285940; TranscriptID:ENST00000649194; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000630 28164605 miR-149 rs2292832 C N/a 183 type 2 diabetic and 192 non-diabetic subjects EFO_0001360 N/A No significance for risk Type 2 diabetes rs2292832-C of miR-149 and its dysfunction is not significantly associated with type 2 diabetes by using case-control analysis in 183 type 2 diabetic and 192 non-diabetic subjects. -0.4 Association of miR-146a rs2910164 and miR-149 rs2292832 Variants with Susceptibility to Type 2 Diabetes. case-control analysis hsa-mir-149 miRNA Type ii diabetes mellitus -0.33 CTGGGGCAGC(T > A,C)GGAACAACGC chr2: 240456086 0.3866,.,0.6134 0.31987449031600407,0.00025484199796126,0.67987066768603465 Region score:0.3; TSS score:0.39; Unmatched score:0.89; Average GERP:1.5002722772277222 GeneName:AC110619.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000218416; TranscriptID:ENST00000404891; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GPC1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000063660; TranscriptID:ENST00000264039; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR149; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207611; TranscriptID:ENST00000384879; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000133146; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000631 28691018 miR-10b rs6736786 G N/a 1,064 breast cancer cases and 1,073 cancer-free controls EFO_0000305 N/A No significance for risk Breast cancer rs6736786-G of miR-10b and its dysfunction is not significantly associated with breast cancer by using case-control analysis in 1,064 breast cancer cases and 1,073 cancer-free controls. -0.4 Genetic Variants in the Promoter Region of miR-10b and the Risk of Breast Cancer. case-control analysis hsa-mir-10b miRNA Breast cancer -0.33 GTAGGCCACA(A > G)TAAAGGTTGC chr2: 176144186 0.5196,0.4804 0.49461646279306829,0.50538353720693170 Region score:0.25; TSS score:0.31; Unmatched score:0.19; Average GERP:0.15204693069306935 GeneName:HOXD3; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000128652; TranscriptID:ENST00000459979; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000632 29803923 HULC rs17144343 A N/a 521 patients and 817 sex- and age (隆脌5) frequency-matched controls in the risk study; among them, 351 hepatocellular cancer patients were involved in the prognosis study. EFO_0000182 N/A No significance for risk Hepatocellular cancer rs17144343-A of HULC and its dysfunction is not significantly associated with hepatocellular cancer by using case-control analysis in 521 patients and 817 sex- and age (隆脌5) frequency-matched controls in the risk study; Among them, 351 hepatocellular cancer patients were involved in the prognosis study. . -0.4 The association of lncRNA-HULC polymorphisms with hepatocellular cancer risk and prognosis. case-control analysis HULC lncRNA Hepatocellular cancer -0.33 GCACAAAGGC(G > A)GAAAGGGAAT chr6: 8655740 0.9331,0.06689 0.93804153924566768,0.06195846075433231 Region score:0.27; TSS score:0.35; Unmatched score:0.39; Average GERP:-1.297961386138614 GeneName:AL355499.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000285216; TranscriptID:ENST00000644718; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AL591485.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000285219; TranscriptID:ENST00000642357; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF02101; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000276019; TranscriptID:ENST00000612720; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000633 29093273 NONHSAT084935.2 rs17683011 G N/A 3,344 swedish ancestry individuals; 4,905 finnish ancestry individuals EFO_0001360 N/A Associate Glp-1 levels in response to oral glucose tolerance test (120 minutes) rs17683011-G of NONHSAT084935.2 is significantly associated with the glp-1 levels in response to oral glucose tolerance test (120 minutes) by using GWAS analysis in 3,344 swedish ancestry individuals; 4,905 finnish ancestry individuals(p-value = 4E-8 ;OR = 0.091). 0.4 Genetic determinants of circulating GIP and GLP-1 concentrations.LID - 10.1172/jci.insight.93306 [doi]LID - 93306 [pii]AB - The secretion of insulin and glucagon from the pancreas and the incretin hormones glucagon-like peptide-1 (GLP-1) and gl genome-wide association analysis NONHSAT084935.2 lncRNA Type ii diabetes mellitus 0.33 TTTTCCACCA(A > G)TCGTGGGACT chr22: 32049959 0.9788,0.02117 0.95619903160040774,0.04380096839959225 Region score:0.49; TSS score:0.43; Unmatched score:0.54; Average GERP:2.86351485148515 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000670294; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000670295; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SLC5A1; CADD-Score:7; Consquence:missense; GeneID:ENSG00000100170; TranscriptID:ENST00000266088; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000634 25056061 NONHSAT177845.1 rs72934570 C N/A 32,405 european ancestry cases//42,221 european ancestry controls//1,235 european ancestry cases and 1,235 european ancestry controls from 1235 parent-offspring trios//1,836 east asian ancestry cases//3,383 east asian ancestry controls; 1,513 european ancestry cases//66,236 european ancestry controls EFO_0000692 N/A Associate Schizophrenia rs72934570-C of NONHSAT177845.1 is significantly associated with the schizophrenia by using GWAS analysis in 32,405 european ancestry cases//42,221 european ancestry controls//1,235 european ancestry cases and 1,235 european ancestry controls from 1235 parent-offspring trios//1,836 east asian ancestry cases//3,383 east asian ancestry controls; 1,513 european ancestry cases//66,236 european ancestry controls(p-value = 2E-11 ;OR = 1.1454753). 0.4 Biological insights from 108 schizophrenia-associated genetic loci. genome-wide association analysis NONHSAT177845.1 lncRNA Schizophrenia 0.52 ACCTCCGTGT(C > T)CTGGTCTGAC chr18: 55865958 0.9712,0.02875 0.94522489806320081,0.05477510193679918 Region score:0.6; TSS score:0.69; Unmatched score:0.47; Average GERP:1.048333663366337 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000634 26198764 NONHSAT177845.1 rs72934570 C N/A 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls EFO_0000692 N/A Associate Schizophrenia rs72934570-C of NONHSAT177845.1 is significantly associated with the schizophrenia by using GWAS analysis in 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls(p-value = 7E-13 ;OR = 1.1627907). 0.4 Genome-wide association study of schizophrenia in Ashkenazi Jews. genome-wide association analysis NONHSAT177845.1 lncRNA Schizophrenia 0.52 ACCTCCGTGT(C > T)CTGGTCTGAC chr18: 55865958 0.9712,0.02875 0.94522489806320081,0.05477510193679918 Region score:0.6; TSS score:0.69; Unmatched score:0.47; Average GERP:1.048333663366337 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000634 28540026 NONHSAT177845.1 rs72934570 ? N/A schizophrenia cases and controls (see ripke//2014)cases//up to 1,190 controls EFO_0000692 N/A Associate Schizophrenia rs72934570-? of NONHSAT177845.1 is significantly associated with the schizophrenia by using GWAS analysis in schizophrenia cases and controls (see ripke//2014)cases//up to 1,190 controls(p-value = 1E-9 ;OR = 1.1235955). 0.4 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. genome-wide association analysis NONHSAT177845.1 lncRNA Schizophrenia 0.52 ACCTCCGTGT(C > T)CTGGTCTGAC chr18: 55865958 0.9712,0.02875 0.94522489806320081,0.05477510193679918 Region score:0.6; TSS score:0.69; Unmatched score:0.47; Average GERP:1.048333663366337 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000635 27989323 NONHSAT221595.1 rs10809307 C N/A 3,685 finnish ancestry individuals EFO_0005140 N/A Associate Interferon gamma-induced protein 10 levels rs10809307-C of NONHSAT221595.1 is significantly associated with the interferon gamma-induced protein 10 levels by using GWAS analysis in 3,685 finnish ancestry individuals(p-value = 4E-6 ;OR = 0.1305). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. genome-wide association analysis NONHSAT221595.1 lncRNA Autoimmune disease 0.33 TCTCAGAATT(T > A,C)GTAATTGCAG chr9: 11045908 0.1959,.,0.8041 0.27859008664627930,0.00340851172273190,0.71800140163098878 Region score:0.18; TSS score:0.15; Unmatched score:0.01; Average GERP:-1.1309356435643567 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000875560; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000636 28621612 ANRIL rs10757278 ? N/a 125 prostate cancer patients and 220 normal age-matched subjects EFO_0001663 N/A Increasing risk Prostate cancer rs10757278-? of ANRIL and its dysfunction is significantly associated with the increasing risk of prostate cancer by using case-control analysis in 125 prostate cancer patients and 220 normal age-matched subjects . 0.4 Association of ANRIL gene polymorphisms with prostate cancer and benign prostatic hyperplasia in an Iranian population. case-control analysis ANRIL lncRNA Prostate cancer 0.33 CATTCCGGTA(A > G)GCAGCGATGC chr9: 22124478 0.5919,0.4081 0.59986620795107033,0.40013379204892966 Region score:0.22; TSS score:0.32; Unmatched score:0.24; Average GERP:0.12248019801980198 GeneName:CDKN2B-AS1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000240498; TranscriptID:ENST00000428597; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000877606; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000637 27564568 NONHSAT208823.1 rs1142345 ? N/A up to 407 european ancestry cases//up to 138 african ancestry cases//up to 251 hispanic cases//up to 57 asian ancestry cases//up to 110 other ancestry cases EFO_0000220 N/A Associate Thiopurine methyltransferase activity in acute lymphoblastic leukemia patients treated with mercaptopurines rs1142345-? of NONHSAT208823.1 is significantly associated with the thiopurine methyltransferase activity in acute lymphoblastic leukemia patients treated with mercaptopurines by using GWAS analysis in up to 407 european ancestry cases//up to 138 african ancestry cases//up to 251 hispanic cases//up to 57 asian ancestry cases//up to 110 other ancestry cases(p-value = 9E-61 ;OR = 7.69). 0.4 Genomewide Approach Validates Thiopurine Methyltransferase Activity Is a Monogenic Pharmacogenomic Trait. genome-wide association analysis NONHSAT208823.1 lncRNA Acute lymphoblastic leukemia 0.33 TGTAAGTAGA(T > C,G)ATAACTTTTC chr6: 18130687 0.9609,0.03914,. 0.95664500509683995,0.04335499490316004,. Region score:0.65; TSS score:0.31; Unmatched score:0.49; Average GERP:1.5289514851485149 GeneName:TPMT; CADD-Score:7; Consquence:missense; GeneID:ENSG00000137364; TranscriptID:ENST00000309983; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000638 28159929 PRNCR1 rs7007694 C Dominant Several case-control studies EFO_0000311 N/A Decreasing risk Cancer rs7007694-C of PRNCR1 and its dysfunction is significantly associated with the decreasing risk of cancer by using meta-analysis in several case-control studies. 0.4 The HOTAIR, PRNCR1 and POLR2E polymorphisms are associated with cancer risk: a meta-analysis. meta-analysis PRNCR1 lncRNA Cancer 0.33 TGTTTGGATG(C > G,T)GGTGATCGGG chr8: 127086921 0.2354,.,0.7646 0.14741016819571865,0.04789436799184505,0.80469546381243628 Region score:0.24; TSS score:0.39; Unmatched score:0.59; Average GERP:0.3486752475247525 GeneName:AC020688.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000224722; TranscriptID:ENST00000519282; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CASC19; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000254166; TranscriptID:ENST00000523510; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PCAT1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000253438; TranscriptID:ENST00000646670; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PRNCR1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000282961; TranscriptID:ENST00000635449; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000639 27723809 NONHSAT105574.2 rs1863918 T N/A 45 japanese ancestry cases//179 japanese ancestry controls; 40 japanese ancestry cases//120 japanese ancestry controls EFO_0003761 interferon-based therapy in chronic hepatitis C Associate Depression in response to interferon-based therapy in chronic hepatitis c rs1863918-T of NONHSAT105574.2 is significantly associated with the depression in response to interferon-based therapy in chronic hepatitis c by using GWAS analysis in 45 japanese ancestry cases//179 japanese ancestry controls; 40 japanese ancestry cases//120 japanese ancestry controls(p-value = 8E-8 ;OR = 2.55). 0.4 Genome-Wide Association Study Identifies ZNF354C Variants Associated with Depression from Interferon-Based Therapy for Chronic Hepatitis C. genome-wide association analysis NONHSAT105574.2 lncRNA Unipolar depression 0.33 AAAATGTCAA(G > T)GCAGTGAGAG chr5: 179112381 0.7322,0.2678 0.74944253312945973,0.25055746687054026 Region score:0.36; TSS score:0.84; Unmatched score:0.85; Average GERP:-1.162681188118812 GeneName:ADAMTS2; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000087116; TranscriptID:ENST00000251582; AnnoType:3PRIME_UTR; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000640 28991256 NONHSAT183690.1 rs2194545 G N/A 7,699 chinese ancestry cases//35,476 european ancestry cases//18,327 chinese ancestry controls//46,839 european ancestry controls; 4,384 chinese ancestry cases//5,770 chinese ancestry controls EFO_0000692 N/A Associate Schizophrenia rs2194545-G of NONHSAT183690.1 is significantly associated with the schizophrenia by using GWAS analysis in 7,699 chinese ancestry cases//35,476 european ancestry cases//18,327 chinese ancestry controls//46,839 european ancestry controls; 4,384 chinese ancestry cases//5,770 chinese ancestry controls(p-value = 2E-6 ;OR = 1.048218). 0.4 Genome-wide association analysis identifies 30 new susceptibility loci for schizophrenia. genome-wide association analysis NONHSAT183690.1 lncRNA Schizophrenia 0.33 TTGCCACATT(A > G,T)ATCTTTTTGC chr2: 228418495 0.3504,0.6496,. 0.39518030071355759,0.59909371814475025,0.00572598114169215 Region score:0.31; TSS score:0.22; Unmatched score:0.1; Average GERP:-0.19474306930693083 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000639084; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000641 27989323 NONHSAT087041.2 rs187166731 C N/A 3,638 finnish ancestry individuals EFO_0005140 N/A Associate Interleukin-1-receptor antagonist levels rs187166731-C of NONHSAT087041.2 is significantly associated with the interleukin-1-receptor antagonist levels by using GWAS analysis in 3,638 finnish ancestry individuals(p-value = 5E-6 ;OR = 0.2325). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. genome-wide association analysis NONHSAT087041.2 lncRNA Autoimmune disease 0.33 CTCGCGCGAC(C > T)AGCAGGTAGA chr22: 42270020 0.9954,0.004593 0.99537302497451580,0.00462697502548419 Region score:0.22; TSS score:0.16; Unmatched score:0.87; Average GERP:-0.6070131313131312 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000146730; AnnoType:REGULATORY; mirSVR-Score:-0.2150; mirSVR-E:-12.00 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000672990; AnnoType:REGULATORY; mirSVR-Score:-0.2150; mirSVR-E:-12.00 | GeneName:OGFRP1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000182057; TranscriptID:ENST00000332965; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.2150; mirSVR-E:-12.00 | GeneName:TCF20; CADD-Score:2; Consquence:intron; GeneID:ENSG00000100207; TranscriptID:ENST00000515426; AnnoType:INTRONIC; mirSVR-Score:-0.2150; mirSVR-E:-12.00 | NCRV0000000642 27863252 NONHSAT101836.2 rs9623 C N/A 171,529 european ancestry individuals EFO_0005192 N/A Associate Red cell distribution width rs9623-C of NONHSAT101836.2 is significantly associated with the red cell distribution width by using GWAS analysis in 171,529 european ancestry individuals(p-value = 2E-10 ;OR = 0.02258455). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT101836.2 lncRNA Red blood cell distribution width 0.33 TGTATATATA(T > A,C)GCACATATAT chr5: 68301493 0.399,.,0.601 0.44759015035677879,0.00602064220183486,0.54638920744138634 Region score:0.34; TSS score:0.55; Unmatched score:0.52; Average GERP:0.5845645161290322 GeneName:PIK3R1; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000145675; TranscriptID:ENST00000521381; AnnoType:3PRIME_UTR; mirSVR-Score:-0.2450; mirSVR-E:-11.94 | NCRV0000000643 28502801 NONHSAT144589.2 rs35096708 G N/A 5,087 individuals EFO_0008006 N/A Associate Skin aging (microtopography measurement) rs35096708-G of NONHSAT144589.2 is significantly associated with the skin aging (microtopography measurement) by using GWAS analysis in 5,087 individuals(p-value = 3E-12 ;OR = 0.1184). 0.4 Genome-Wide Association Shows that Pigmentation Genes Play a Role in Skin Aging. genome-wide association analysis NONHSAT144589.2 lncRNA Skin aging measurement 0.33 TGAGACCAGC(G > A)TCCCCAACAT chr16: 89820841 0.8852,0.1148 0.83925044597349643,0.16074955402650356 Region score:0.15; TSS score:0.2; Unmatched score:0.15; Average GERP:0.10089285714285715 GeneName:FANCA; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000187741; TranscriptID:ENST00000389301; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SPIRE2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000204991; TranscriptID:ENST00000565103; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000644 26112879 NONHSAT102380.2 rs2451932 G N/A 541 european ancestry individuals EFO_0000319 N/A Associate Ldl peak particle diameter (total fat intake interaction) rs2451932-G of NONHSAT102380.2 is significantly associated with the ldl peak particle diameter (total fat intake interaction) by using GWAS analysis in 541 european ancestry individuals(p-value = 2E-6 ;OR = 0.034925025). 0.4 Interaction between Common Genetic Variants and Total Fat Intake on Low-Density Lipoprotein Peak Particle Diameter: A Genome-Wide Association Study. genome-wide association analysis NONHSAT102380.2 lncRNA Cardiovascular disease 0.33 TGTTTGGGGC(A > G)TTATTGTCAC chr5: 80007810 0.3582,0.6418 0.39867641437308868,0.60132358562691131 Region score:0.38; TSS score:0.27; Unmatched score:0.05; Average GERP:0.12451831683168314 GeneName:THBS4; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000113296; TranscriptID:ENST00000513310; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000645 28498854 NONHSAT215731.1 rs10096908 ? N/A up to 31,155 african individuals; up to 4,187 african individuals//up to 14,016 korean ancestry individuals//up to 23,914 european ancestry individuals//up to 12,278 hispanic individuals EFO_0006336 N/A Associate Blood pressure traits (multi-trait analysis) rs10096908-? of NONHSAT215731.1 is significantly associated with the blood pressure traits (multi-trait analysis) by using GWAS analysis in up to 31,155 african individuals; up to 4,187 african individuals//up to 14,016 korean ancestry individuals//up to 23,914 european ancestry individuals//up to 12,278 hispanic individuals(p-value = 2E-6 ;OR = ?). 0.4 Single-trait and multi-trait genome-wide association analyses identify novel loci for blood pressure in African-ancestry populations. genome-wide association analysis NONHSAT215731.1 lncRNA Diastolic blood pressure 0.33 GACTTGGTGG(C > T)ATCGCAAGAC chr8: 41784039 0.9032,0.09685 0.90143189347604485,0.09856810652395514 Region score:0.19; TSS score:0.2; Unmatched score:0.14; Average GERP:-0.11250396039603963 GeneName:ANK1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000029534; TranscriptID:ENST00000265709; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000646 27863252 NONHSAT198706.1 rs16850073 T N/A 170,384 european ancestry individuals EFO_0009390 N/A Associate Sum neutrophil eosinophil counts rs16850073-T of NONHSAT198706.1 is significantly associated with the sum neutrophil eosinophil counts by using GWAS analysis in 170,384 european ancestry individuals(p-value = 2E-45 ;OR = 0.05262755). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT198706.1 lncRNA Sum of neutrophil and eosinophil counts 0.33 TGGTTTTAGA(C > T)GTTTGATGTC chr4: 73838282 0.7562,0.2438 0.70997387869520897,0.29002612130479102 Region score:0.41; TSS score:0.67; Unmatched score:0.76; Average GERP:1.8884217821782174 GeneName:CXCL6; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000124875; TranscriptID:ENST00000226317; AnnoType:3PRIME_UTR; mirSVR-Score:-0.9039; mirSVR-E:-14.05 | NCRV0000000647 21051598 NONHSAT108734.2 rs3131018 C N/A 516 european cases//1,196 european controls//341 african american cases//892 african american controls//117 hispanic cases//560 hispanic controls EFO_0000180 N/A Associate Hiv-1 control rs3131018-C of NONHSAT108734.2 is significantly associated with the hiv-1 control by using GWAS analysis in 516 european cases//1,196 european controls//341 african american cases//892 african american controls//117 hispanic cases//560 hispanic controls(p-value = 4E-16 ;OR = 2.1). 0.4 The major genetic determinants of HIV-1 control affect HLA class I peptide presentation. genome-wide association analysis NONHSAT108734.2 lncRNA Hiv-1 infection 0.33 TTCTGCAGCT(A > C,G)TGCTTGGTTC chr6: 31175805 0.3141,0.6859,. 0.35008919469928644,0.64990284148827726,0.00000796381243628 Region score:0.19; TSS score:0.29; Unmatched score:0.31; Average GERP:-0.10200128712871279 GeneName:POU5F1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000204531; TranscriptID:ENST00000441888; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PSORS1C3; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000204528; TranscriptID:ENST00000412143; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000648 27989323 NONHSAT183730.1 rs77240236 C N/A 3,631 finnish ancestry individuals EFO_0005140 N/A Associate Ctack levels rs77240236-C of NONHSAT183730.1 is significantly associated with the ctack levels by using GWAS analysis in 3,631 finnish ancestry individuals(p-value = 5E-6 ;OR = 0.2551). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. genome-wide association analysis NONHSAT183730.1 lncRNA Autoimmune disease 0.33 TCTTATCTAC(C > T)GTCCATTTTC chr2: 231240707 0.9844,0.01558 0.96796158256880733,0.03203841743119266 Region score:0.22; TSS score:0.12; Unmatched score:0.11; Average GERP:-0.9700700000000001 GeneName:ARMC9; CADD-Score:2; Consquence:intron; GeneID:ENSG00000135931; TranscriptID:ENST00000611582; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000649 23555923 hsa-mir-27a rs895819 C N/A 191 patients with TNBC and 192 healthy female controls EFO_0005537 N/A no significance for risk triple-negative breast cancer rs895819-C of hsa-mir-27a and its dysfunction is not significantly associated with Triple-negative breast cancer by using case-control analysis in 191 patients with TNBC and 192 healthy female controls -0.4 There is no association between microRNA gene polymorphisms and risk of triple negative breast cancer in a Chinese Han population. case-control analysis hsa-mir-27a miRNA Triple-negative breast cancer -0.33 CACGACTTGG(T > C)GTGGACCCTG chr19: 13836478 0.6362,0.3638 0.63091711264016309,0.36908288735983690 Region score:0.57; TSS score:0.41; Unmatched score:0.75; Average GERP:2.158386138613861 GeneName:AC020916.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000267519; TranscriptID:ENST00000587762; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR23A; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207980; TranscriptID:ENST00000385245; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR24-2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284387; TranscriptID:ENST00000386972; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR27A; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207808; TranscriptID:ENST00000385073; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000107447; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ZSWIM4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000132003; TranscriptID:ENST00000254323; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000650 24816252 NONHSAT083439.2 rs4680 A N/A 7,824 european ancestry individuals EFO_0005664 N/A Associate Blood metabolite levels rs4680-A of NONHSAT083439.2 is significantly associated with the blood metabolite levels by using GWAS analysis in 7,824 european ancestry individuals(p-value = 1E-13 ;OR = 0.044). 0.4 An atlas of genetic influences on human blood metabolites. genome-wide association analysis NONHSAT083439.2 lncRNA Blood metabolite measurement 0.33 TTTCGCTGGC(G > A)TGAAGGACAA chr22: 19963748 0.6308,0.3692 0.57573585626911314,0.42426414373088685 Region score:0.14; TSS score:0.25; Unmatched score:0.57; Average GERP:0.3490653465346536 GeneName:COMT; CADD-Score:7; Consquence:missense; GeneID:ENSG00000093010; TranscriptID:ENST00000361682; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR4761; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284031; TranscriptID:ENST00000585066; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000651 23001564 NONHSAT093155.2 rs1317082 G N/A 9,190 european ancestry individuals; 2,226 individuals EFO_0004505 N/A Associate Telomere length rs1317082-G of NONHSAT093155.2 is significantly associated with the telomere length by using GWAS analysis in 9,190 european ancestry individuals; 2,226 individuals(p-value = 1E-8 ;OR = 0.0679). 0.4 Genome-wide meta-analysis points to CTC1 and ZNF676 as genes regulating telomere homeostasis in humans. genome-wide association analysis NONHSAT093155.2 lncRNA Telomere length 0.33 CCAAATAAGT(A > G)TGTTGATTCT chr3: 169779797 0.7328,0.2672 0.78087570081549439,0.21912429918450560 Region score:0.52; TSS score:0.18; Unmatched score:0.17; Average GERP:0.520460396039604 GeneName:AC078795.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000269984; TranscriptID:ENST00000602342; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYNN; CADD-Score:2; Consquence:intron; GeneID:ENSG00000085274; TranscriptID:ENST00000349841; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000652 22863734 NONHSAT029376.2 rs1373453 ? N/A up to 666 european ancestry trios//399 european ancestry cases//1,318 european ancestry controls; up to 795 east asian ancestry trios MONDO_0000358 N/A Associate Orofacial clefts rs1373453-? of NONHSAT029376.2 is significantly associated with the orofacial clefts by using GWAS analysis in up to 666 european ancestry trios//399 european ancestry cases//1,318 european ancestry controls; up to 795 east asian ancestry trios(p-value = 2E-6 ;OR = ?). 0.4 Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci. genome-wide association analysis NONHSAT029376.2 lncRNA Orofacial cleft 0.33 N/A N/A N/A N/A N/A N/A NCRV0000000653 20639394 NONHSAT135167.2 rs10901296 ? N/A 8,841 korean ancestry individuals; 1,096 korean ancestry individuals EFO_0004570 N/A Associate Bilirubin levels rs10901296-? of NONHSAT135167.2 is significantly associated with the bilirubin levels by using GWAS analysis in 8,841 korean ancestry individuals; 1,096 korean ancestry individuals(p-value = 3E-7 ;OR = 0.092). 0.4 Genome-wide association of serum bilirubin levels in Korean population. genome-wide association analysis NONHSAT135167.2 lncRNA Bilirubin measurement 0.33 CTTTCTAAAC(G > A)GAGTGCCCTG chr9: 130890269 0.9692,0.03075 0.95433549949031600,0.04566450050968399 Region score:0.2; TSS score:0.18; Unmatched score:0.25; Average GERP:-1.0882227722772284 GeneName:ABL1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000097007; TranscriptID:ENST00000372348; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000895999; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:QRFP; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000188710; TranscriptID:ENST00000623824; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000654 26152337 hsa-mir-618 rs2682818 A N/a 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs2682818-A of hsa-mir-618 and its dysfunction is not significantly associated with hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors. -0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. case-control analysis hsa-mir-618 miRNA Hepatocellular cancer -0.33 CACAGGGTAA(A > C,T)CCTGCTTGTC chr12: 80935757 0.2424,0.7576,. 0.19708046636085626,0.80291953363914373,. Region score:0.28; TSS score:0.39; Unmatched score:0.77; Average GERP:-0.7771772277227725 GeneName:ACSS3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000111058; TranscriptID:ENST00000549175; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LIN7A; CADD-Score:2; Consquence:intron; GeneID:ENSG00000111052; TranscriptID:ENST00000552864; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR618; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000208022; TranscriptID:ENST00000385287; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000054588; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000655 27863252 NONHSAT060713.2 rs778798 C N/A 170,223 european ancestry individuals EFO_0007995 N/A Associate Basophil percentage of granulocytes rs778798-C of NONHSAT060713.2 is significantly associated with the basophil percentage of granulocytes by using GWAS analysis in 170,223 european ancestry individuals(p-value = 2E-9 ;OR = 0.0241134). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT060713.2 lncRNA Basophil percentage of granulocytes 0.33 GGTGGCCTCA(A > C)CAAGCCCCTC chr19: 5839602 0.1671,0.8329 0.17967157237512742,0.82032842762487257 Region score:0.55; TSS score:0.74; Unmatched score:0.94; Average GERP:-0.48882079207920853 GeneName:FUT3; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000171124; TranscriptID:ENST00000303225; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:FUT6; CADD-Score:3; Consquence:5_prime_UTR; GeneID:ENSG00000156413; TranscriptID:ENST00000318336; AnnoType:5PRIME_UTR; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000583179; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000656 29071344 NONHSAT182955.1 rs115182184 G N/A 3,041 african american individuals//1,618 european ancestry individuals; 1,612 african american individuals//1,551 european ancestry individuals EFO_0003829 N/A Associate Major depression and alcohol dependence rs115182184-G of NONHSAT182955.1 is significantly associated with the major depression and alcohol dependence by using GWAS analysis in 3,041 african american individuals//1,618 european ancestry individuals; 1,612 african american individuals//1,551 european ancestry individuals(p-value = 8E-6 ;OR = 0.952). 0.4 Genetic Risk Variants Associated With Comorbid Alcohol Dependence and Major Depression. genome-wide association analysis NONHSAT182955.1 lncRNA Alcohol dependence 0.33 CCTGCCCGGC(G > A,C)CTCCCGGCCC chr2: 156342049 0.9834,0.01657,. 0.98290965851172273,0.01707441386340468,0.00001592762487257 Region score:0.63; TSS score:0.67; Unmatched score:0.99; Average GERP:1.3865042574257427 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000124856; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NR4A2; CADD-Score:3; Consquence:5_prime_UTR; GeneID:ENSG00000153234; TranscriptID:ENST00000409572; AnnoType:5PRIME_UTR; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000657 28199695 NONHSAT209026.1 rs9368780 G N/A 84,724 european ancestry individuals EFO_0008378 N/A Associate Mosquito bite size rs9368780-G of NONHSAT209026.1 is significantly associated with the mosquito bite size by using GWAS analysis in 84,724 european ancestry individuals(p-value = 3E-6 ;OR = 0.0313285). 0.4 GWAS of self-reported mosquito bite size, itch intensity and attractiveness to mosquitoes implicates immune-related predisposition loci. genome-wide association analysis NONHSAT209026.1 lncRNA Mosquito bite reaction size measurement 0.33 TGCTATCTGA(G > C)AGATTCCTCT chr6: 33890717 0.7322,0.2678 0.71992864424057084,0.28007135575942915 Region score:0.22; TSS score:0.06; Unmatched score:0.18; Average GERP:0.11736363636363625 GeneName:AL138889.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000233183; TranscriptID:ENST00000526556; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LINC01016; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000249346; TranscriptID:ENST00000506222; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000658 23928854 miR-196a rs11614913 T N/A 209 acute anterior uveitis with ankylosing spondylitis patients and 1,685 controls all belonging to a Chinese Han population EFO_1000811 N/A no significance for risk anterior uveitis rs11614913-T of hsa-mir-196a-2 and its dysfunction is not significantly associated with Anterior uveitis by using case-control analysis in 209 acute anterior uveitis with ankylosing spondylitis patients and 1,685 controls all belonging to a Chinese Han population -0.4 A functional variant of pre-miRNA-196a2 confers risk for Behcet's disease but not for Vogt-Koyanagi-Harada syndrome or AAU in ankylosing spondylitis. case-control analysis hsa-mir-196a-2 miRNA Anterior uveitis -0.33 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000659 26634245 NONHSAT101318.2 rs79942555 T N/A 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio in copd rs79942555-T of NONHSAT101318.2 is significantly associated with the post bronchodilator fev1/fvc ratio in copd by using GWAS analysis in 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases(p-value = 2E-6 ;OR = 0.075). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT101318.2 lncRNA Pulmonary function measurement 0.33 CCTGTCCCAC(C > T)CCCACCTTTT chr5: 43520422 0.9894,0.01058 0.98916921508664627,0.01083078491335372 Region score:0.32; TSS score:0.22; Unmatched score:0.15; Average GERP:-0.010233861386138644 GeneName:AC114956.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000248240; TranscriptID:ENST00000504277; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC114956.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000248554; TranscriptID:ENST00000512498; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000660 21833088 NONHSAT217627.1 rs2019960 G N/A 9,772 european ancestry cases//16,849 european ancestry controls; 4,218 european ancestry cases//7,296 european ancestry controls EFO_0003885 N/A Associate Multiple sclerosis rs2019960-G of NONHSAT217627.1 is significantly associated with the multiple sclerosis by using GWAS analysis in 9,772 european ancestry cases//16,849 european ancestry controls; 4,218 european ancestry cases//7,296 european ancestry controls(p-value = 5E-9 ;OR = 1.12). 0.4 Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. genome-wide association analysis NONHSAT217627.1 lncRNA Multiple sclerosis 0.33 CCGCTCTTTT(T > C)GGAAGTGACC chr8: 128180025 0.7558,0.2442 0.72873662079510703,0.27126337920489296 Region score:0.35; TSS score:0.23; Unmatched score:0.29; Average GERP:-1.3905544554455445 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000661 27863252 NONHSAT198706.1 rs16850073 T N/A 170,494 european ancestry individuals EFO_0007989 N/A Associate Monocyte percentage of white cells rs16850073-T of NONHSAT198706.1 is significantly associated with the monocyte percentage of white cells by using GWAS analysis in 170,494 european ancestry individuals(p-value = 5E-13 ;OR = 0.02675622). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT198706.1 lncRNA Monocypte percentage of leukocytes 0.33 TGGTTTTAGA(C > T)GTTTGATGTC chr4: 73838282 0.7562,0.2438 0.70997387869520897,0.29002612130479102 Region score:0.41; TSS score:0.67; Unmatched score:0.76; Average GERP:1.8884217821782174 GeneName:CXCL6; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000124875; TranscriptID:ENST00000226317; AnnoType:3PRIME_UTR; mirSVR-Score:-0.9039; mirSVR-E:-14.05 | NCRV0000000662 27713147 miR-26a-1 rs7372209 T N/a 1358 0-iii stage resected crc patients and 1079 healthy controls EFO_0005842 N/A Poor prognosis Colorectal cancer rs7372209-T of miR-26a-1 and its dysfunction is significantly associated with the poor prognosis of colorectal cancer by using case-control analysis in 1358 0-III stage resected CRC patients and 1079 healthy controls. 0.4 MiR-608, pre-miR-124-1 and pre-miR26a-1 polymorphisms modify susceptibility and recurrence-free survival in surgically resected CRC individuals. case-control analysis hsa-mir-26a-1 miRNA Colorectal cancer 0.451 ATTAATCCTT(T > C)GTACCACGTG chr3: 37969217 0.2015,0.7985 0.21918800968399592,0.78081199031600407 Region score:0.25; TSS score:0.19; Unmatched score:0.58; Average GERP:0.42166831683168315 GeneName:CTDSPL; CADD-Score:2; Consquence:intron; GeneID:ENSG00000144677; TranscriptID:ENST00000273179; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR26A1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000199075; TranscriptID:ENST00000362205; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000682913; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000662 20585341 miRNA26a-1 rs7372209 T Recessive 61 patients EFO_0005842 5-fluorouracil; irinotecan Poor prognosis Colorectal cancer rs7372209-T of miRNA26a-1 and its dysfunction is significantly associated with the poor prognosis of colorectal cancer by using analysis of sequence variation in 61 patients. 0.4 Role of primary miRNA polymorphic variants in metastatic colon cancer patients treated with 5-fluorouracil and irinotecan. analysis of sequence variation hsa-mir-26a-1 miRNA Colorectal cancer 0.451 ATTAATCCTT(T > C)GTACCACGTG chr3: 37969217 0.2015,0.7985 0.21918800968399592,0.78081199031600407 Region score:0.25; TSS score:0.19; Unmatched score:0.58; Average GERP:0.42166831683168315 GeneName:CTDSPL; CADD-Score:2; Consquence:intron; GeneID:ENSG00000144677; TranscriptID:ENST00000273179; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR26A1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000199075; TranscriptID:ENST00000362205; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000682913; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000663 27863252 NONHSAT081839.2 rs35542019 T N/A 172,925 european ancestry individuals EFO_0004509 N/A Associate Hemoglobin concentration rs35542019-T of NONHSAT081839.2 is significantly associated with the hemoglobin concentration by using GWAS analysis in 172,925 european ancestry individuals(p-value = 7E-14 ;OR = 0.02693789). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT081839.2 lncRNA Hemoglobin measurement 0.33 ATTGTGGCTT(TA > T)AAAAAAAAGT chr21: 33974554 0.4008,0.5992 0.42916985219164118,0.57083014780835881 N/A GeneName:LINC00649; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000237945; TranscriptID:ENST00000427447; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000664 18759275 NONHSAT167505.1 rs17065323 ? N/A 408 old order amish female individuals//460 old order amish male individuals; framingham heart study (sample size nr) EFO_0004761 N/A Associate Uric acid levels rs17065323-? of NONHSAT167505.1 is significantly associated with the uric acid levels by using GWAS analysis in 408 old order amish female individuals//460 old order amish male individuals; framingham heart study (sample size nr)(p-value = 4E-6 ;OR = 4.29). 0.4 Association of a common nonsynonymous variant in GLUT9 with serum uric acid levels in old order amish. genome-wide association analysis NONHSAT167505.1 lncRNA Uric acid measurement 0.33 TCAGATAGCC(C > T)TCTAGACGTC chr13: 44053652 0.9257,0.07428 0.94578236493374108,0.05421763506625891 Region score:0.33; TSS score:0.37; Unmatched score:0.21; Average GERP:0.20129009900990094 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000480369; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000665 19411858 miRNA-146 rs2910146 C N/a 608 ptc patients and 901 controls EFO_0000641 N/A Increasing risk Papillary thyroid carcinoma rs2910146-C of miRNA-146 and its dysfunction is significantly associated with the increasing risk of papillary thyroid carcinoma by using case-control analysis in 608 PTC patients and 901 controls. By using the disease cell lines or tissues, the mutation of miRNA-146 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 Genomic sequence matters: a SNP in microRNA-146a can turn anti-apoptotic. case-control analysis; Function hsa-mir-146a miRNA Papillary thyroid cancer 0.593 N/A N/A N/A N/A N/A N/A NCRV0000000666 23259602 NONHSAT175754.1 rs3204270 ? N/A 1,483 european ancestry comparatively younger individuals//5,960 european ancestry comparatively older individuals EFO_0003819 N/A Associate Dental caries rs3204270-? of NONHSAT175754.1 is significantly associated with the dental caries by using GWAS analysis in 1,483 european ancestry comparatively younger individuals//5,960 european ancestry comparatively older individuals(p-value = 5E-6 ;OR = ?). 0.4 Genome-wide association scan of dental caries in the permanent dentition. genome-wide association analysis NONHSAT175754.1 lncRNA Dental caries 0.33 TGGTGCGTAC(C > T)GACGGCATCC chr17: 81715021 0.9593,0.04073 0.93223591997961264,0.06776408002038735 Region score:0.49; TSS score:0.6; Unmatched score:0.84; Average GERP:2.0577029702970284 GeneName:AC139530.2; CADD-Score:5; Consquence:synonymous; GeneID:ENSG00000262660; TranscriptID:ENST00000571730; AnnoType:SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SLC25A10; CADD-Score:5; Consquence:synonymous; GeneID:ENSG00000183048; TranscriptID:ENST00000545862; AnnoType:SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000667 27863252 NONHSAT188651.1 rs35786299 GA N/A 169,545 european ancestry individuals EFO_0007997 N/A Associate Granulocyte percentage of myeloid white cells rs35786299-GA of NONHSAT188651.1 is significantly associated with the granulocyte percentage of myeloid white cells by using GWAS analysis in 169,545 european ancestry individuals(p-value = 4E-15 ;OR = 0.02914055). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT188651.1 lncRNA Granulocyte percentage of myeloid white cells 0.33 CAACTCAAAA(G > GA,GAA)AAAAAAAAAA chr20: 32324113 0.6074,0.3926,. 0.67111843781855249,0.32611015545361875,0.00277140672782874 N/A GeneName:KIF3B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000101350; TranscriptID:ENST00000375712; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000668 21793975 miR-548d-1 hsa-mir-548d-1 Deletion - Dominant 48 medulloblastomas EFO_0002939 N/A Increasing risk Medulloblastomas Deletion of miR-548d-1 and its dysfunction is significantly associated with the increasing risk of medulloblastomas by using analysis of sequence variation in 48 medulloblastomas. 0.4 Genetic alterations in microRNAs in medulloblastomas. analysis of sequence variation; Function hsa-mir-548d-1 miRNA Medulloblastoma 0.33 N/A N/A N/A N/A N/A N/A NCRV0000000669 29235454 NONHSAT196752.1 rs13076750 ? N/A 56,819 european ancestry individuals//5,748 hispanic/latino individuals//5,119 east asian ancestry individuals//2,070 african american individuals; 37,930 european and asian ancestry individuals EFO_0004695 N/A Associate Intraocular pressure rs13076750-? of NONHSAT196752.1 is significantly associated with the intraocular pressure by using GWAS analysis in 56,819 european ancestry individuals//5,748 hispanic/latino individuals//5,119 east asian ancestry individuals//2,070 african american individuals; 37,930 european and asian ancestry individuals(p-value = 1E-13 ;OR = 0.1). 0.4 A large multi-ethnic genome-wide association study identifies novel genetic loci for intraocular pressure. genome-wide association analysis NONHSAT196752.1 lncRNA Intraocular pressure measurement 0.33 TTCATTTGTA(A > G)ACACTAGCAT chr3: 188341655 0.5371,0.4629 0.61424885321100917,0.38575114678899082 Region score:0.55; TSS score:0.29; Unmatched score:0.5; Average GERP:-0.18403663366336637 GeneName:LPP; CADD-Score:2; Consquence:intron; GeneID:ENSG00000145012; TranscriptID:ENST00000640853; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000670 27680694 NONHSAT153479.1 rs2473248 C N/A 133,903 european ancestry individuals//6,635 african american individuals//420 turkish ancestry individuals//365 moroccan ancestry individuals//395 surinamese ancestry individuals//840 chinese ancestry individuals.; 9,799 european ancestry individuals//1,449 filipino ancestry individuals. EFO_0004344 N/A Associate Birth weight rs2473248-C of NONHSAT153479.1 is significantly associated with the birth weight by using GWAS analysis in 133,903 european ancestry individuals//6,635 african american individuals//420 turkish ancestry individuals//365 moroccan ancestry individuals//395 surinamese ancestry individuals//840 chinese ancestry individuals.; 9,799 european ancestry individuals//1,449 filipino ancestry individuals.(p-value = 1E-9 ;OR = 0.0331). 0.4 Genome-wide associations for birth weight and correlations with adult disease. genome-wide association analysis NONHSAT153479.1 lncRNA Birth weight 0.33 GGCTCCAAGT(T > C)CCGTGGGGAG chr1: 22210150 0.1901,0.8099 0.16587824923547400,0.83412175076452599 Region score:0.28; TSS score:0.54; Unmatched score:0.27; Average GERP:-1.3521544554455442 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000350232; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000671 22491018 NONHSAT151084.1 rs11121380 ? N/A 1,157 european and other ancestry rheumatoid arthritis cases; 526 european and other ancestry rheumatoid arthritis cases EFO_0000685 tocilizumab Associate Response to tocilizumab in rheumatoid arthritis rs11121380-? of NONHSAT151084.1 is significantly associated with the response to tocilizumab in rheumatoid arthritis by using GWAS analysis in 1,157 european and other ancestry rheumatoid arthritis cases; 526 european and other ancestry rheumatoid arthritis cases(p-value = 5E-8 ;OR = 11.11). 0.4 Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis. genome-wide association analysis NONHSAT151084.1 lncRNA Rheumatoid arthritis 0.33 TTTGCCGTCA(A > C)AGGATGTAAG chr1: 9348900 0.9111,0.08886 0.89446355759429153,0.10553644240570846 Region score:0.28; TSS score:0.24; Unmatched score:0.37; Average GERP:-0.6279128712871289 GeneName:SPSB1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000171621; TranscriptID:ENST00000328089; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000672 19786962 NONHSAT158620.1 rs4751178 G N/A 200 european ancestry cases; 186 european ancestry cases EFO_0004336 N/A Associate Speech perception in dyslexia rs4751178-G of NONHSAT158620.1 is significantly associated with the speech perception in dyslexia by using GWAS analysis in 200 european ancestry cases; 186 european ancestry cases(p-value = 7E-6 ;OR = ?). 0.4 First genome-wide association scan on neurophysiological endophenotypes points to trans-regulation effects on SLC2A3 in dyslexic children. genome-wide association analysis NONHSAT158620.1 lncRNA Speech perception 0.33 TCTGTATCAC(A > G,T)CTGTTTCTGT chr10: 130193981 0.2654,0.7346,. 0.25180778542303771,0.73482893730886850,0.01336327726809378 Region score:0.34; TSS score:0.2; Unmatched score:0.17; Average GERP:0.05009090909090916 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000420039; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000673 22832964 NONHSAT172351.1 rs2036527 A N/A up to 32,389 african american individuals EFO_0004318 N/A Associate Smoking behavior rs2036527-A of NONHSAT172351.1 is significantly associated with the smoking behavior by using GWAS analysis in up to 32,389 african american individuals(p-value = 2E-8 ;OR = 0.04). 0.4 Genome-wide meta-analyses of smoking behaviors in African Americans. genome-wide association analysis NONHSAT172351.1 lncRNA Smoking behavior 0.33 ATTACCAAAC(G > A)ATTTCCAATT chr15: 78559273 0.8019,0.1981 0.72308231396534148,0.27691768603465851 Region score:0.53; TSS score:0.46; Unmatched score:0.33; Average GERP:0.397948613861386 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000522518; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000674 18634034 mir-149 rs2292832 G N/a 1,009 breast cancer cases and 1,093 cancer-free controls EFO_0000305 N/A No significance for risk Breast cancer rs2292832-G of mir-149 and its dysfunction is not significantly associated with breast cancer by using case-control analysis in 1,009 breast cancer cases and 1,093 cancer-free controls. -0.4 Common genetic variants in pre-microRNAs were associated with increased risk of breast cancer in Chinese women. case-control analysis hsa-mir-149 miRNA Breast cancer -0.33 CTGGGGCAGC(T > A,C)GGAACAACGC chr2: 240456086 0.3866,.,0.6134 0.31987449031600407,0.00025484199796126,0.67987066768603465 Region score:0.3; TSS score:0.39; Unmatched score:0.89; Average GERP:1.5002722772277222 GeneName:AC110619.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000218416; TranscriptID:ENST00000404891; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GPC1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000063660; TranscriptID:ENST00000264039; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR149; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207611; TranscriptID:ENST00000384879; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000133146; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000675 25673413 NONHSAT151756.1 rs7551318 T N/A up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals EFO_0001073 N/A Associate Body mass index rs7551318-T of NONHSAT151756.1 is significantly associated with the body mass index by using GWAS analysis in up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals(p-value = 7E-7 ;OR = 0.062). 0.4 Genetic studies of body mass index yield new insights for obesity biology. genome-wide association analysis NONHSAT151756.1 lncRNA Obesity 0.33 TCTTTTACGG(G > T)TTCCATCTCC chr1: 68904154 0.2021,0.7979 0.20822980377166156,0.79177019622833843 Region score:0.39; TSS score:0.21; Unmatched score:0.03; Average GERP:-0.5675277227722774 GeneName:AL033530.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000285407; TranscriptID:ENST00000643361; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000676 27863252 NONHSAT158820.1 rs415895 G N/A 170,763 european ancestry individuals EFO_0007986 N/A Associate High light scatter reticulocyte percentage of red cells rs415895-G of NONHSAT158820.1 is significantly associated with the high light scatter reticulocyte percentage of red cells by using GWAS analysis in 170,763 european ancestry individuals(p-value = 4E-9 ;OR = 0.02200319). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT158820.1 lncRNA Reticulocyte count 0.33 GCAGCTGGAG(C > G)AGCTTGAGTT chr11: 9748015 0.4796,0.5204 0.40152745922528032,0.59847254077471967 Region score:0.29; TSS score:0.34; Unmatched score:0.37; Average GERP:1.5259089108910884 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000423150; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SWAP70; CADD-Score:7; Consquence:missense; GeneID:ENSG00000133789; TranscriptID:ENST00000318950; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000677 27989323 NONHSAT222179.1 rs35019477 GCA N/A 3,638 finnish ancestry individuals EFO_0005140 N/A Associate Interleukin-1-receptor antagonist levels rs35019477-GCA of NONHSAT222179.1 is significantly associated with the interleukin-1-receptor antagonist levels by using GWAS analysis in 3,638 finnish ancestry individuals(p-value = 7E-7 ;OR = 0.1328). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. genome-wide association analysis NONHSAT222179.1 lncRNA Autoimmune disease 0.33 ACACACGCAC(G > GCA,GCACA,GCACACA,GCACGCA)CACACACACA chr9: 116409870 N/A 0.33533225025484199,0.66410231906218144,0.00053357543323139,0.00002389143730886,0.00000796381243628 N/A GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000678 25616704 miRNA-126 rs4636297 A N/a 531 individuals with diabetes EFO_0003770 N/A Increasing risk Sight threatening diabetic retinopathy rs4636297 -A of miRNA-126 and its dysfunction is significantly associated with the increasing risk of sight threatening diabetic retinopathy by using analysis of sequence variation in 531 individuals with diabetes. 0.4 A genetic variant regulating miR-126 is associated with sight threatening diabetic retinopathy. analysis of sequence variation hsa-mir-126 miRNA Diabetic retinopathy 0.33 CGCATCGAAA(A > G)CGCCGCTGAG chr9: 136670698 0.3057,0.6943 0.35495508409785932,0.64504491590214067 Region score:0.32; TSS score:0.31; Unmatched score:0.76; Average GERP:0.7106336633663374 GeneName:AGPAT2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000169692; TranscriptID:ENST00000371696; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:EGFL7; CADD-Score:2; Consquence:intron; GeneID:ENSG00000172889; TranscriptID:ENST00000371699; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR126; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000199161; TranscriptID:ENST00000362291; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000243058; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000338220; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000679 18464913 NONHSAT152242.1 rs4950322 ? N/A 1,200 european ancestry individuals; up to 4,590 european ancestry individuals EFO_0004819 N/A Associate Protein quantitative trait loci rs4950322-? of NONHSAT152242.1 is significantly associated with the protein quantitative trait loci by using GWAS analysis in 1,200 european ancestry individuals; up to 4,590 european ancestry individuals(p-value = 2E-7 ;OR = ?). 0.4 A genome-wide association study identifies protein quantitative trait loci (pQTLs). genome-wide association analysis NONHSAT152242.1 lncRNA Resistin measurement 0.33 GCAGGAAACA(G > A)TGGGTTAAGC chr1: 147383114 0.852,0.148 0.83190781090723751,0.16809218909276248 Region score:0.54; TSS score:0.29; Unmatched score:0.03; Average GERP:-0.44525940594059393 GeneName:LINC00624; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000278811; TranscriptID:ENST00000621316; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000680 24788237 HOTAIR rs920778 T N/a 2098 esophageal squamous cell carcinoma patients and 2150 controls EFO_0005922 N/A Increasing risk Esophageal squamous cell carcinoma rs920778-T of HOTAIR and its dysfunction is significantly associated with the increasing risk of esophageal squamous cell carcinoma by using case-control analysis in 2098 esophageal squamous cell carcinoma patients and 2150 controls. By using the disease cell lines or tissues, the mutation of HOTAIR has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 The identification of an ESCC susceptibility SNP rs920778 that regulates the expression of lncRNA HOTAIR via a novel intronic enhancer. case-control analysis; Function HOTAIR lncRNA Esophageal squamous cell cancer 0.593 TGAATGTTAC(G > A)GTTTCCTTCA chr12: 53966448 0.4401,0.5599 0.43194922273190621,0.56805077726809378 Region score:0.25; TSS score:0.53; Unmatched score:0.76; Average GERP:2.310435643564358 GeneName:AC012531.4; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000274817; TranscriptID:ENST00000616509; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC012531.5; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277129; TranscriptID:ENST00000611375; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOTAIR; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000228630; TranscriptID:ENST00000424518; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000458643; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01905; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000275589; TranscriptID:ENST00000611210; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01906; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000277994; TranscriptID:ENST00000611352; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000681 26634245 NONHSAT161284.1 rs118084537 T N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio rs118084537-T of NONHSAT161284.1 is significantly associated with the post bronchodilator fev1/fvc ratio by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 6E-8 ;OR = 0.124). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT161284.1 lncRNA Pulmonary function measurement 0.33 GGCATACCTT(C > T)CTGCACTGTG chr11: 70244600 0.9768,0.02316 0.96130383537206931,0.03869616462793068 Region score:0.32; TSS score:0.5; Unmatched score:0.37; Average GERP:-0.15555346534653466 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000682 23793025 NONHSAT217342.1 rs4493873 ? N/A 5,175 european ancestry clinic-based cases//13,972 european ancestry clinic-based controls EFO_0003821 N/A Associate Migraine - clinic-based rs4493873-? of NONHSAT217342.1 is significantly associated with the migraine - clinic-based by using GWAS analysis in 5,175 european ancestry clinic-based cases//13,972 european ancestry clinic-based controls(p-value = 5E-6 ;OR = 1.14). 0.4 Genome-wide meta-analysis identifies new susceptibility loci for migraine. genome-wide association analysis NONHSAT217342.1 lncRNA Migraine disorder 0.33 GGGCAGGATT(A > C)CATGCTACTC chr8: 91063415 0.3626,0.6374 0.36565048419979612,0.63434951580020387 Region score:0.29; TSS score:0.21; Unmatched score:0.28; Average GERP:-0.3612534653465344 GeneName:OTUD6B-AS1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253738; TranscriptID:ENST00000522817; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000683 26030696 NONHSAT066419.2 rs7937 T N/A 5,385 european ancestry chronic obstructive pulmonary disease cases//901 african american chronic obstructive pulmonary disease cases//3,613 european ancestry controls//2,132 african american controls EFO_0000341 N/A Associate Emphysema imaging phenotypes rs7937-T of NONHSAT066419.2 is significantly associated with the emphysema imaging phenotypes by using GWAS analysis in 5,385 european ancestry chronic obstructive pulmonary disease cases//901 african american chronic obstructive pulmonary disease cases//3,613 european ancestry controls//2,132 african american controls(p-value = 2E-6 ;OR = 0.08). 0.4 A Genome-Wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes. genome-wide association analysis NONHSAT066419.2 lncRNA Chronic obstructive pulmonary disease 0.52 CCTAACCATA(C > T)CCCAAGAGCT chr19: 40796801 0.5274,0.4726 0.51233594546381243,0.48766405453618756 Region score:0.44; TSS score:0.65; Unmatched score:0.84; Average GERP:2.0383069306930697 GeneName:AC008537.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000268797; TranscriptID:ENST00000601627; AnnoType:UPSTREAM; mirSVR-Score:-1.0129; mirSVR-E:-15.87 | GeneName:AC008537.4; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000282951; TranscriptID:ENST00000595728; AnnoType:NONCODING_CHANGE; mirSVR-Score:-1.0129; mirSVR-E:-15.87 | GeneName:EGLN2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000269858; TranscriptID:ENST00000593726; AnnoType:UPSTREAM; mirSVR-Score:-1.0129; mirSVR-E:-15.87 | GeneName:MIA-RAB4B; CADD-Score:2; Consquence:NMD,3_prime_UTR; GeneID:ENSG00000268975; TranscriptID:ENST00000600729; AnnoType:3PRIME_UTR; mirSVR-Score:-1.0129; mirSVR-E:-15.87 | GeneName:RAB4B; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000167578; TranscriptID:ENST00000594800; AnnoType:DOWNSTREAM; mirSVR-Score:-1.0129; mirSVR-E:-15.87 | GeneName:RAB4B-EGLN2; CADD-Score:2; Consquence:intron,NMD; GeneID:ENSG00000171570; TranscriptID:ENST00000594136; AnnoType:INTRONIC; mirSVR-Score:-1.0129; mirSVR-E:-15.87 | NCRV0000000683 22080838 NONHSAT066419.2 rs7937 ? N/A 3,499 european ancestry cases//1,922 european ancestry controls; 983 cases//1,876 sibling controls EFO_0000341 N/A Associate Chronic obstructive pulmonary disease rs7937-? of NONHSAT066419.2 is significantly associated with the chronic obstructive pulmonary disease by using GWAS analysis in 3,499 european ancestry cases//1,922 european ancestry controls; 983 cases//1,876 sibling controls(p-value = 3E-9 ;OR = 1.37). 0.4 A genome-wide association study of COPD identifies a susceptibility locus on chromosome 19q13. genome-wide association analysis NONHSAT066419.2 lncRNA Chronic obstructive pulmonary disease 0.52 CCTAACCATA(C > T)CCCAAGAGCT chr19: 40796801 0.5274,0.4726 0.51233594546381243,0.48766405453618756 Region score:0.44; TSS score:0.65; Unmatched score:0.84; Average GERP:2.0383069306930697 GeneName:AC008537.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000268797; TranscriptID:ENST00000601627; AnnoType:UPSTREAM; mirSVR-Score:-1.0129; mirSVR-E:-15.87 | GeneName:AC008537.4; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000282951; TranscriptID:ENST00000595728; AnnoType:NONCODING_CHANGE; mirSVR-Score:-1.0129; mirSVR-E:-15.87 | GeneName:EGLN2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000269858; TranscriptID:ENST00000593726; AnnoType:UPSTREAM; mirSVR-Score:-1.0129; mirSVR-E:-15.87 | GeneName:MIA-RAB4B; CADD-Score:2; Consquence:NMD,3_prime_UTR; GeneID:ENSG00000268975; TranscriptID:ENST00000600729; AnnoType:3PRIME_UTR; mirSVR-Score:-1.0129; mirSVR-E:-15.87 | GeneName:RAB4B; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000167578; TranscriptID:ENST00000594800; AnnoType:DOWNSTREAM; mirSVR-Score:-1.0129; mirSVR-E:-15.87 | GeneName:RAB4B-EGLN2; CADD-Score:2; Consquence:intron,NMD; GeneID:ENSG00000171570; TranscriptID:ENST00000594136; AnnoType:INTRONIC; mirSVR-Score:-1.0129; mirSVR-E:-15.87 | NCRV0000000683 28166215 NONHSAT066419.2 rs7937 T N/A 11,157 european ancestry cases//36,699 european ancestry controls//1,142 african american cases//2,380 african american controls//199 korean ancestry cases//6,741 korean ancestry controls//52 hispanic cases//548 hispanic controls.; 12,051 european ancestry cases//11,111 european ancestry controls//153 korean ancestry cases//205 korean ancestry controls. EFO_0000341 N/A Associate Chronic obstructive pulmonary disease rs7937-T of NONHSAT066419.2 is significantly associated with the chronic obstructive pulmonary disease by using GWAS analysis in 11,157 european ancestry cases//36,699 european ancestry controls//1,142 african american cases//2,380 african american controls//199 korean ancestry cases//6,741 korean ancestry controls//52 hispanic cases//548 hispanic controls.; 12,051 european ancestry cases//11,111 european ancestry controls//153 korean ancestry cases//205 korean ancestry controls.(p-value = 6E-8 ;OR = 1.06). 0.4 Genetic loci associated with chronic obstructive pulmonary disease overlap with loci for lung function and pulmonary fibrosis. genome-wide association analysis NONHSAT066419.2 lncRNA Chronic obstructive pulmonary disease 0.52 CCTAACCATA(C > T)CCCAAGAGCT chr19: 40796801 0.5274,0.4726 0.51233594546381243,0.48766405453618756 Region score:0.44; TSS score:0.65; Unmatched score:0.84; Average GERP:2.0383069306930697 GeneName:AC008537.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000268797; TranscriptID:ENST00000601627; AnnoType:UPSTREAM; mirSVR-Score:-1.0129; mirSVR-E:-15.87 | GeneName:AC008537.4; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000282951; TranscriptID:ENST00000595728; AnnoType:NONCODING_CHANGE; mirSVR-Score:-1.0129; mirSVR-E:-15.87 | GeneName:EGLN2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000269858; TranscriptID:ENST00000593726; AnnoType:UPSTREAM; mirSVR-Score:-1.0129; mirSVR-E:-15.87 | GeneName:MIA-RAB4B; CADD-Score:2; Consquence:NMD,3_prime_UTR; GeneID:ENSG00000268975; TranscriptID:ENST00000600729; AnnoType:3PRIME_UTR; mirSVR-Score:-1.0129; mirSVR-E:-15.87 | GeneName:RAB4B; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000167578; TranscriptID:ENST00000594800; AnnoType:DOWNSTREAM; mirSVR-Score:-1.0129; mirSVR-E:-15.87 | GeneName:RAB4B-EGLN2; CADD-Score:2; Consquence:intron,NMD; GeneID:ENSG00000171570; TranscriptID:ENST00000594136; AnnoType:INTRONIC; mirSVR-Score:-1.0129; mirSVR-E:-15.87 | NCRV0000000684 29059683 NONHSAT171014.1 rs12904134 A N/A 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls EFO_0000305 N/A Associate Breast cancer rs12904134-A of NONHSAT171014.1 is significantly associated with the breast cancer by using GWAS analysis in 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls(p-value = 8E-6 ;OR = 0.0286). 0.4 Association analysis identifies 65 new breast cancer risk loci. genome-wide association analysis NONHSAT171014.1 lncRNA Breast cancer 0.33 ATGAAGAACC(G > A,T)CCTCCCTCAC chr15: 74300521 0.8401,0.1599,. 0.69400643476044852,0.30566704892966360,0.00032651630988786 Region score:0.29; TSS score:0.47; Unmatched score:0.38; Average GERP:-0.9926811881188119 GeneName:AC023300.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000261384; TranscriptID:ENST00000562561; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC023300.3; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000280309; TranscriptID:ENST00000623096; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CCDC33; CADD-Score:2; Consquence:intron; GeneID:ENSG00000140481; TranscriptID:ENST00000398814; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000521259; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000685 22832960 NONHSAT200428.1 rs987360 T N/A up to 12,433 european ancestry individuals EFO_0004825 N/A Associate Temperament rs987360-T of NONHSAT200428.1 is significantly associated with the temperament by using GWAS analysis in up to 12,433 european ancestry individuals(p-value = 2E-6 ;OR = 0.27). 0.4 A genome-wide meta-analysis of association studies of Cloninger's Temperament Scales. genome-wide association analysis NONHSAT200428.1 lncRNA Temperament and character inventory 0.33 CTGTCCTTTG(C > T)ACTTCTAAGT chr4: 137306455 0.4623,0.5377 0.48615889398572884,0.51384110601427115 Region score:0.35; TSS score:0.34; Unmatched score:0.19; Average GERP:0.49559504950495054 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000686 26152337 hsa-mir-492 rs2289030 C N/a 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs2289030-C of hsa-mir-492 and its dysfunction is not significantly associated with hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors. -0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. case-control analysis hsa-mir-492 miRNA Hepatocellular cancer 0 ACTGGCTGCA(G > C)ATGACTTCTG chr12: 94834510 0.8856,0.1144 0.93300840978593272,0.06699159021406727 Region score:0.46; TSS score:0.27; Unmatched score:0.47; Average GERP:0.04842574257425743 GeneName:KRT19P2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000216306; TranscriptID:ENST00000557173; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.5124; mirSVR-E:-22.60 | GeneName:MIR492; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000283998; TranscriptID:ENST00000638676; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.5124; mirSVR-E:-22.60 | NCRV0000000686 26753964 miR-492 rs2289030 G Dominant blood samples of 362 HCC patients with surgical resection of a HCC tumor EFO_0000182 N/A better prognosis hepatocellular carcinoma rs2289030-G of hsa-mir-492 and its dysfunction is significantly associated with the better prognosis of Hepatocellular carcinoma by using analysis of sequence variation in blood samples of 362 HCC patients with surgical resection of a HCC tumor 0.4 miR-492G>C polymorphism (rs2289030) is associated with overall survival of hepatocellular carcinoma patients. analysis of sequence variation hsa-mir-492 miRNA Hepatocellular carcinoma 0 ACTGGCTGCA(G > C)ATGACTTCTG chr12: 94834510 0.8856,0.1144 0.93300840978593272,0.06699159021406727 Region score:0.46; TSS score:0.27; Unmatched score:0.47; Average GERP:0.04842574257425743 GeneName:KRT19P2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000216306; TranscriptID:ENST00000557173; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.5124; mirSVR-E:-22.60 | GeneName:MIR492; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000283998; TranscriptID:ENST00000638676; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.5124; mirSVR-E:-22.60 | NCRV0000000687 28540026 NONHSAT208980.1 rs1131275 C N/A up to 6,197 european ancestry asd cases//up to 7,377 european ancestry controls//up to 1,190 asd cases//up to 1,190 controls EFO_0003756 N/A Associate Autism spectrum disorder rs1131275-C of NONHSAT208980.1 is significantly associated with the autism spectrum disorder by using GWAS analysis in up to 6,197 european ancestry asd cases//up to 7,377 european ancestry controls//up to 1,190 asd cases//up to 1,190 controls(p-value = 2E-9 ;OR = 1.07). 0.4 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. genome-wide association analysis NONHSAT208980.1 lncRNA Autism spectrum disorder 0.33 GCTCCAGCTT(G > C)TCCTTCCCGT chr6: 31356183 0.1977,0.8023 0.30339736238532110,0.69660263761467889 Region score:0.23; TSS score:0.33; Unmatched score:0.73; Average GERP:0.24476237623762379 GeneName:AL671883.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000271581; TranscriptID:ENST00000603274; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HLA-B; CADD-Score:7; Consquence:missense; GeneID:ENSG00000234745; TranscriptID:ENST00000412585; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR6891; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277402; TranscriptID:ENST00000618788; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000195527; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000787550; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000688 27989323 NONHSAT157804.1 rs75697268 C N/A 8,243 finnish ancestry individuals EFO_0005140 N/A Associate Macrophage inflammatory protein 1b levels rs75697268-C of NONHSAT157804.1 is significantly associated with the macrophage inflammatory protein 1b levels by using GWAS analysis in 8,243 finnish ancestry individuals(p-value = 7E-6 ;OR = 0.4675). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. genome-wide association analysis NONHSAT157804.1 lncRNA Autoimmune disease 0.33 GCTGGGGCTA(T > C)GGAATTCGAC chr10: 2041344 0.9575,0.04253 0.96804918450560652,0.03195081549439347 Region score:0.33; TSS score:0.43; Unmatched score:0.17; Average GERP:-1.4550093069306933 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000689 26502338 NONHSAT174663.1 rs11644034 G N/A 5,201 european ancestry cases//9,066 european ancestry controls; 2,018 european ancestry cases//6,925 european ancestry controls EFO_0002690 N/A Associate Systemic lupus erythematosus rs11644034-G of NONHSAT174663.1 is significantly associated with the systemic lupus erythematosus by using GWAS analysis in 5,201 european ancestry cases//9,066 european ancestry controls; 2,018 european ancestry cases//6,925 european ancestry controls(p-value = 1E-17 ;OR = 1.25). 0.4 Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus. genome-wide association analysis NONHSAT174663.1 lncRNA Systemic lupus erythematosus 0.33 AGCATTGCAG(G > A)GCCTTGTATG chr16: 85939006 0.8802,0.1198 0.81789946483180428,0.18210053516819571 Region score:0.21; TSS score:0.34; Unmatched score:0.16; Average GERP:-0.8472712871287127 GeneName:AC092723.5; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000285163; TranscriptID:ENST00000646986; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LINC02132; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000268804; TranscriptID:ENST00000598933; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000690 27863252 NONHSAT217648.1 rs1982094 T N/A 170,702 european ancestry individuals EFO_0004833 N/A Associate Neutrophil count rs1982094-T of NONHSAT217648.1 is significantly associated with the neutrophil count by using GWAS analysis in 170,702 european ancestry individuals(p-value = 3E-15 ;OR = 0.07124163). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT217648.1 lncRNA Neutrophil count 0.33 CCTAACTTTC(C > T)CTTCCATCTC chr8: 129612570 0.8864,0.1136 0.94813965341488277,0.05186034658511722 Region score:0.34; TSS score:0.31; Unmatched score:0.12; Average GERP:-0.08521782178217828 GeneName:CCDC26; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000229140; TranscriptID:ENST00000446592; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000691 27626436 H19 rs2839702 C N/a 703 coal workers' pneumoconiosis cases and 705 controls. EFO_1000814 N/A No significance for risk Coal workers' pneumoconiosis rs2839702-C of H19 and its dysfunction is not significantly associated with Coal Workers' Pneumoconiosis by using case-control analysis in 703 Coal Workers' Pneumoconiosis cases and 705 controls -0.4 Polymorphisms in Long Noncoding RNA H19 Contribute to the Protective Effects of Coal Workers' Pneumoconiosis in a Chinese Population.LID - 10.3390/ijerph13090903 [doi]LID - E903 [pii]AB - The H19 is a kind of long noncoding RNA, which has been case-control analysis H19 lncRNA Anthracosis -0.33 TGGTTCCTCT(A > C,T)GCTTCACCTA chr11: 1995787 N/A 1 Region score:0.18; TSS score:0.47; Unmatched score:0.86; Average GERP:-0.7642009900990099 GeneName:H19; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000130600; TranscriptID:ENST00000414790; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.3759; mirSVR-E:-14.08 | GeneName:LINC01219; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000232987; TranscriptID:ENST00000418612; AnnoType:DOWNSTREAM; mirSVR-Score:-0.3759; mirSVR-E:-14.08 | GeneName:MIR675; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000284010; TranscriptID:ENST00000390168; AnnoType:DOWNSTREAM; mirSVR-Score:-0.3759; mirSVR-E:-14.08 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000035875; AnnoType:REGULATORY; mirSVR-Score:-0.3759; mirSVR-E:-14.08 | GeneName:RF01972; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000275266; TranscriptID:ENST00000617997; AnnoType:UPSTREAM; mirSVR-Score:-0.3759; mirSVR-E:-14.08 | GeneName:RF01973; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000274866; TranscriptID:ENST00000620857; AnnoType:UPSTREAM; mirSVR-Score:-0.3759; mirSVR-E:-14.08 | NCRV0000000692 24612133 miR-146 rs2910164 C N/A 346 oral squamous cell carcinomas collected in Italy EFO_0000199 N/A no significance for risk oral squamous cell carcinoma rs2910164-C of hsa-mir-146a and its dysfunction is not significantly associated with Oral squamous cell carcinoma by using case-control analysis in 346 oral squamous cell carcinomas collected in Italy -0.4 Role of the MIR146A polymorphism in the origin and progression of oral squamous cell carcinoma. case-control analysis hsa-mir-146a miRNA Oral squamous cell carcinoma -0.33 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 0 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000693 27863252 NONHSAT206588.1 rs55713716 A N/A 172,378 european ancestry individuals EFO_0007991 N/A Associate Eosinophil percentage of white cells rs55713716-A of NONHSAT206588.1 is significantly associated with the eosinophil percentage of white cells by using GWAS analysis in 172,378 european ancestry individuals(p-value = 7E-21 ;OR = 0.04688527). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT206588.1 lncRNA Eosinophil percentage of leukocytes 0.33 TGTGGTGGAC(G > A,T)TACACCATGG chr6: 376329 0.4297,0.5703,. 0.38993214831804281,0.60999617737003058,0.00007167431192660 Region score:0.37; TSS score:0.26; Unmatched score:0.2; Average GERP:-0.9792594059405939 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000694 28240269 NONHSAT207112.1 rs2227955 G N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0008248 N/A Associate Blood protein levels rs2227955-G of NONHSAT207112.1 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 4E-13 ;OR = 1.024). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. genome-wide association analysis NONHSAT207112.1 lncRNA Neutrophil collagenase measurement 0.33 CTTCAAACCT(T > G)CATCACTCAC chr6: 31810300 0.9517,0.04832 0.95706708715596330,0.04293291284403669 Region score:0.33; TSS score:0.43; Unmatched score:0.58; Average GERP:2.9151683168316826 GeneName:HSPA1L; CADD-Score:7; Consquence:missense; GeneID:ENSG00000204390; TranscriptID:ENST00000375654; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LSM2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000204392; TranscriptID:ENST00000375661; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000695 25673413 NONHSAT128025.2 rs3134353 T N/A up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals EFO_0001073 N/A Associate Body mass index rs3134353-T of NONHSAT128025.2 is significantly associated with the body mass index by using GWAS analysis in up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals(p-value = 7E-6 ;OR = 0.018). 0.4 Genetic studies of body mass index yield new insights for obesity biology. genome-wide association analysis NONHSAT128025.2 lncRNA Obesity 0.33 ATAGGCTCTA(A > C,G,T)TAAAGGCACG chr8: 100935225 0.3133,.,.,0.6867 0.32731269113149847,0.00126624617737003,.,0.67142106269113149 Region score:0.35; TSS score:0.08; Unmatched score:0.3; Average GERP:-0.16431386138613868 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000863985; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:YWHAZ; CADD-Score:2; Consquence:intron; GeneID:ENSG00000164924; TranscriptID:ENST00000395957; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000696 29228715 NONHSAT166616.1 rs511674 ? N/A 978 austrian ancestry cases//4,294 european ancestry controls EFO_0005842 N/A Associate Colorectal cancer rs511674-? of NONHSAT166616.1 is significantly associated with the colorectal cancer by using GWAS analysis in 978 austrian ancestry cases//4,294 european ancestry controls(p-value = 6E-6 ;OR = 2.155). 0.4 Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas. genome-wide association analysis NONHSAT166616.1 lncRNA Colorectal cancer 0.33 ACTAAAGCTG(T > C)CTTTTATTCT chr13: 36848378 0.8994,0.1006 0.93495954383282364,0.06504045616717635 Region score:0.4; TSS score:0.63; Unmatched score:0.71; Average GERP:-0.4964009900990103 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000271619; AnnoType:REGULATORY; mirSVR-Score:-0.9781; mirSVR-E:-10.10 | GeneName:SMAD9; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000120693; TranscriptID:ENST00000379826; AnnoType:3PRIME_UTR; mirSVR-Score:-0.9781; mirSVR-E:-10.10 | GeneName:SMAD9-IT1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000236711; TranscriptID:ENST00000437983; AnnoType:DOWNSTREAM; mirSVR-Score:-0.9781; mirSVR-E:-10.10 | NCRV0000000697 27825117 miR-149 rs2292832 C Dominant 658 female participants with non-small cell lung cancer EFO_0003060 N/A Better prognosis Non-small cell lung cancer rs2292832-C of miR-149 and its dysfunction is significantly associated with the better prognosis of non-small cell lung cancer by using case-control analysis in 658 female participants with non-small cell lung cancer. By using the disease cell lines or tissues, the mutation of miR-149 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 Genetic variants in microRNAs predict non-small cell lung cancer prognosis in Chinese female population in a prospective cohort study. case-control analysis; Function hsa-mir-149 miRNA Non-small cell lung cancer 0.667 CTGGGGCAGC(T > A,C)GGAACAACGC chr2: 240456086 0.3866,.,0.6134 0.31987449031600407,0.00025484199796126,0.67987066768603465 Region score:0.3; TSS score:0.39; Unmatched score:0.89; Average GERP:1.5002722772277222 GeneName:AC110619.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000218416; TranscriptID:ENST00000404891; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GPC1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000063660; TranscriptID:ENST00000264039; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR149; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207611; TranscriptID:ENST00000384879; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000133146; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000697 18521189 hsa-mir-149 rs2292832 TT recessive 663 individuals with non-small cell lung cancer EFO_0003060 N/A poor prognosis non-small cell lung carcinoma rs2292832-TT of hsa-mir-149 and its dysfunction is significantly associated with the increasing risk of Non-small cell lung carcinoma by using case-control analysis in 663 individuals with non-small cell lung cancer 0.4 Genetic variants of miRNA sequences and non-small cell lung cancer survival. case-control analysis hsa-mir-149 miRNA Non-small cell lung carcinoma 0.667 CTGGGGCAGC(T > A,C)GGAACAACGC chr2: 240456086 0.3866,.,0.6134 0.31987449031600407,0.00025484199796126,0.67987066768603465 Region score:0.3; TSS score:0.39; Unmatched score:0.89; Average GERP:1.5002722772277222 GeneName:AC110619.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000218416; TranscriptID:ENST00000404891; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GPC1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000063660; TranscriptID:ENST00000264039; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR149; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207611; TranscriptID:ENST00000384879; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000133146; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000698 18356149 let-7e rs369631196 A Dominant >100 human tumor tissues and 20 cancer cell lines EFO_0001663 N/A Increasing risk Prostate cancer rs369631196-A of let-7e and its dysfunction is significantly associated with the increasing risk of prostate cancer by using case-control analysis in >100 human tumor tissues and 20 cancer cell lines. 0.4 Genetic variations of microRNAs in human cancer and their effects on the expression of miRNAs. case-control analysis hsa-let-7e miRNA Prostate cancer 0.33 CGCCCTGCAC(G > A,C)GGACGGGGCC chr19: 51692878 0.9998,0.0001997,. 0.99945049694189602,0.00054153924566768,0.00000796381243628 N/A GeneName:MIR125A; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000208008; TranscriptID:ENST00000385273; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR99B; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207550; TranscriptID:ENST00000384819; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIRLET7E; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000198972; TranscriptID:ENST00000362102; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SPACA6; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000182310; TranscriptID:ENST00000637797; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SPACA6P-AS; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000269959; TranscriptID:ENST00000602324; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000699 25760438 NONHSAT172678.1 rs189178161 ? N/A 89 martu australian aboriginal ancestry cases//302 martu australian aboriginal ancestry controls EFO_0001360 N/A Associate Type 2 diabetes rs189178161-? of NONHSAT172678.1 is significantly associated with the type 2 diabetes by using GWAS analysis in 89 martu australian aboriginal ancestry cases//302 martu australian aboriginal ancestry controls(p-value = 8E-6 ;OR = 0.64). 0.4 First genome-wide association study in an Australian aboriginal population provides insights into genetic risk factors for body mass index and type 2 diabetes. genome-wide association analysis NONHSAT172678.1 lncRNA Type ii diabetes mellitus 0.33 CAGGTTAACA(T > A)TTGTCAAACA chr16: 12624996 0.9964,0.003594 0.99869393476044852,0.00130606523955147 Region score:0.21; TSS score:0.18; Unmatched score:0.05; Average GERP:-0.20219801980198013 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000700 23430406 miR-196a2 rs11614913 C Recessive 680 glioma cases and 690 cancer-free controls EFO_0005543 N/A Increasing risk Gliomas rs11614913-C of miR-196a2 and its dysfunction is significantly associated with the increasing risk of gliomas by using case-control analysis in 680 glioma cases and 690 cancer-free controls. 0.4 Four common polymorphisms in microRNAs and the risk of adult glioma in a Chinese case-control study. case-control analysis hsa-mir-196a-2 miRNA Glioma 0 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000700 27796868 miR196a2 rs11614913 ? N/A 180 glioma cases and controls EFO_0005543 N/A no significance for risk glioma rs11614913-? of hsa-mir-196a-2 and its dysfunction is not significantly associated with Glioma by using case-control analysis in 180 glioma cases and controls -0.4 Effect of rs11614913 Polymorphism on Mature miR196a2 Expression and its Target Gene HOXC8 Expression in Human Glioma. case-control analysis hsa-mir-196a-2 miRNA Glioma 0 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000701 27863252 NONHSAT215396.1 rs4841132 G N/A 171,542 european ancestry individuals EFO_0007990 N/A Associate Neutrophil percentage of white cells rs4841132-G of NONHSAT215396.1 is significantly associated with the neutrophil percentage of white cells by using GWAS analysis in 171,542 european ancestry individuals(p-value = 3E-11 ;OR = 0.04101722). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT215396.1 lncRNA Neutrophil percentage of leukocytes 0.33 CCAGGGCAGC(A > G)TCCAGCTGGT chr8: 9326086 0.09325,0.9067 0.09840086646279306,0.90159913353720693 Region score:0.46; TSS score:0.24; Unmatched score:0.62; Average GERP:-1.1010772277227727 GeneName:AC022784.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000248538; TranscriptID:ENST00000520390; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0795; mirSVR-E:-25.94 | NCRV0000000702 28566273 NONHSAT159070.1 rs1061810 A N/A up to 26,676 european ancestry cases//up to 132,532 european ancestry controls; 14,545 european ancestry cases//38,994 european ancestry controls EFO_0001360 N/A Associate Type 2 diabetes rs1061810-A of NONHSAT159070.1 is significantly associated with the type 2 diabetes by using GWAS analysis in up to 26,676 european ancestry cases//up to 132,532 european ancestry controls; 14,545 european ancestry cases//38,994 european ancestry controls(p-value = 4E-10 ;OR = 1.07). 0.4 An Expanded Genome-Wide Association Study of Type 2 Diabetes in Europeans. genome-wide association analysis NONHSAT159070.1 lncRNA Type ii diabetes mellitus 0.33 TCTGAGTTTT(C > A)AGCACCAGTA chr11: 43856384 0.6494,0.3506 0.66523318042813455,0.33476681957186544 Region score:0.32; TSS score:0.45; Unmatched score:0.58; Average GERP:-1.1929297029702972 GeneName:AC087521.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000246250; TranscriptID:ENST00000530450; AnnoType:INTRONIC; mirSVR-Score:-0.8395; mirSVR-E:-16.14 | GeneName:AC087521.4; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000283375; TranscriptID:ENST00000637427; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.8395; mirSVR-E:-16.14 | GeneName:HSD17B12; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000149084; TranscriptID:ENST00000278353; AnnoType:3PRIME_UTR; mirSVR-Score:-0.8395; mirSVR-E:-16.14 | NCRV0000000703 27082954 NONHSAT002566.2 rs755249 G N/A 104 european ancestry cases//1,519 european ancestry controls//34 african american cases//520 african american controls EFO_0004265 traffic-related air pollution interaction Associate Peripheral arterial disease (traffic-related air pollution interaction) rs755249-G of NONHSAT002566.2 is significantly associated with the peripheral arterial disease (traffic-related air pollution interaction) by using GWAS analysis in 104 european ancestry cases//1,519 european ancestry controls//34 african american cases//520 african american controls(p-value = 2E-8 ;OR = 3.45). 0.4 Genetic Variants in the Bone Morphogenic Protein Gene Family Modify the Association between Residential Exposure to Traffic and Peripheral Arterial Disease. genome-wide association analysis NONHSAT002566.2 lncRNA Peripheral arterial disease 0.33 CAGTGACCCA(C > A,T)GCGCTAGGGT chr1: 39529402 0.8826,.,0.1174 0.83094418960244648,0.00002389143730886,0.16903191896024464 Region score:0.24; TSS score:0.06; Unmatched score:0.18; Average GERP:-0.8825924752475248 GeneName:BMP8A; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000183682; TranscriptID:ENST00000331593; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0090; mirSVR-E:-21.49 | GeneName:PPIEL; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000243970; TranscriptID:ENST00000331856; AnnoType:INTRONIC; mirSVR-Score:-0.0090; mirSVR-E:-21.49 | NCRV0000000704 28199695 NONHSAT060713.2 rs778798 C N/A 84,724 european ancestry individuals EFO_0008378 N/A Associate Mosquito bite size rs778798-C of NONHSAT060713.2 is significantly associated with the mosquito bite size by using GWAS analysis in 84,724 european ancestry individuals(p-value = 3E-6 ;OR = 0.0279609). 0.4 GWAS of self-reported mosquito bite size, itch intensity and attractiveness to mosquitoes implicates immune-related predisposition loci. genome-wide association analysis NONHSAT060713.2 lncRNA Mosquito bite reaction size measurement 0.33 GGTGGCCTCA(A > C)CAAGCCCCTC chr19: 5839602 0.1671,0.8329 0.17967157237512742,0.82032842762487257 Region score:0.55; TSS score:0.74; Unmatched score:0.94; Average GERP:-0.48882079207920853 GeneName:FUT3; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000171124; TranscriptID:ENST00000303225; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:FUT6; CADD-Score:3; Consquence:5_prime_UTR; GeneID:ENSG00000156413; TranscriptID:ENST00000318336; AnnoType:5PRIME_UTR; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000583179; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000705 22778062 SNORD115-8 rs72546344 A N/a N/a function N/A Not significant changes in the structure Function rs72546344-A of SNORD115-8 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD115-8 snoRNA Function -0.049 TCAATGATGA(G > T)AACCTTACAT chr15: 25184319 N/A RS=72546344;RSPOS=25184319;dbSNPBuildID=130;SSR=0;SAO=0;VP=0x0500000a0005000002000100;GENEINFO=SNORD115-8:100033445|SNHG14:104472715|SNORD115-9:100033446;WGT=1;VC=SNV;INT;R5;ASP Region score:0.44; TSS score:0.1; Unmatched score:0.42; Average GERP:0.04997029702970292 GeneName:SNHG14; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000224078; TranscriptID:ENST00000414175; AnnoType:UPSTREAM; mirSVR-Score:-0.3515; mirSVR-E:-21.53 | GeneName:SNORD115-10; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000201943; TranscriptID:ENST00000365073; AnnoType:UPSTREAM; mirSVR-Score:-0.3515; mirSVR-E:-21.53 | GeneName:SNORD115-6; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000200812; TranscriptID:ENST00000363942; AnnoType:DOWNSTREAM; mirSVR-Score:-0.3515; mirSVR-E:-21.53 | GeneName:SNORD115-7; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000278089; TranscriptID:ENST00000365306; AnnoType:DOWNSTREAM; mirSVR-Score:-0.3515; mirSVR-E:-21.53 | GeneName:SNORD115-8; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000200726; TranscriptID:ENST00000363856; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.3515; mirSVR-E:-21.53 | GeneName:SNORD115-9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000199782; TranscriptID:ENST00000362912; AnnoType:UPSTREAM; mirSVR-Score:-0.3515; mirSVR-E:-21.53 | NCRV0000000706 25740697 piR_001549 rs12483859 G N/A 1147 patients with CRC (cases) and 1203 cancer-free individuals EFO_0005842 N/A no significance for risk colorectal cancer rs12483859-G of piR_001549 and its dysfunction is not significantly associated with Colorectal cancer by using case-control analysis in 1147 patients with CRC (cases) and 1203 cancer-free individuals -0.4 Genetic variants in noncoding PIWI-interacting RNA and colorectal cancer risk. case-control analysis piR_001549 piRNA Colorectal cancer -0.33 TGACATTAGC(T > C)ATTAGGCTGA chr22: 23892620 0.7308,0.2692 0.74524560397553516,0.25475439602446483 Region score:0.2; TSS score:0.26; Unmatched score:0.34; Average GERP:0.08612871287128729 GeneName:AP000350.4; CADD-Score:2; Consquence:intron; GeneID:ENSG00000251357; TranscriptID:ENST00000433835; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIF-AS1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000218537; TranscriptID:ENST00000406213; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIF; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000240972; TranscriptID:ENST00000215754; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000707 27197292 piR-598 rs147061479 ? N/a 1840 glioma cases and 2401 controls EFO_0005543 N/A Increasing risk Glioma rs147061479-? of piR-598 and its dysfunction is significantly associated with the increasing risk of glioma by using genome-wide association analysis in 1840 glioma cases and 2401 controls. By using the disease cell lines or tissues, the mutation of piR-598 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 PIWI-Interacting RNAs in Gliomagenesis: Evidence from Post-GWAS and Functional Analyses. genome-wide association analysis; Function piR-598 piRNA Glioma 0.593 GTGTAGCCAC(C > T)TTCATCAATG chr8: 65264756 0.9908,0.009185 0.98193010958205912,0.01806989041794087 Region score:0.28; TSS score:0.01; Unmatched score:0; Average GERP:0.08654455445544547 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000708 26584805 NONHSAT038090.2 rs746629 T N/A 717 singaporean chinese ancestry myocardial infarction cases//644 singaporean chinese ancestry controls EFO_0000319 N/A Associate Plasma omega-6 polyunsaturated fatty acid levels (linoleic acid) rs746629-T of NONHSAT038090.2 is significantly associated with the plasma omega-6 polyunsaturated fatty acid levels (linoleic acid) by using GWAS analysis in 717 singaporean chinese ancestry myocardial infarction cases//644 singaporean chinese ancestry controls(p-value = 2E-6 ;OR = 0.0237). 0.4 A genome-wide association study of n-3 and n-6 plasma fatty acids in a Singaporean Chinese population. genome-wide association analysis NONHSAT038090.2 lncRNA Cardiovascular disease 0.33 AAGGAACCAA(T > C)CCAGTGGACA chr14: 82788828 0.5913,0.4087 0.63429376911314984,0.36570623088685015 Region score:0.36; TSS score:0.16; Unmatched score:0.3; Average GERP:-0.24252475247524763 GeneName:AL355095.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000258683; TranscriptID:ENST00000554451; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000709 25169894 hsa-mir-202 rs12355840 T N/A 69 unrelated individuals from 14 global populations, including European, Asian and African populations. EFO_0000305 N/A increasing risk breast carcinoma rs12355840-T of hsa-mir-202 and its dysfunction is significantly associated with the increasing risk of Breast carcinoma by using case-control analysis in 69 unrelated individuals from 14 global populations, including European, Asian and African populations. 0.9 Global population-specific variation in miRNA associated with cancer risk and clinical biomarkers. case-control analysis hsa-mir-202 miRNA Breast carcinoma 0.593 GAACGGCGGG(C > G,T)GGCTCTGAGG chr10: 133247608 0.3189,0.01198,0.6691 0.20326834862385321,0.11666188837920489,0.68006976299694189 Region score:0.38; TSS score:0.4; Unmatched score:0.9; Average GERP:0.18739584158415806 GeneName:MIR202; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000284219; TranscriptID:ENST00000362219; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR202HG; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000166917; TranscriptID:ENST00000553459; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000420758; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000710 25133637 NONHSAT168677.1 rs12882679 G N/A 953 bangladeshi ancestry underweight females//1,269 bangladeshi ancestry normal weight females//1,146 bangladeshi ancestry underweight males//1,106 normal weight males EFO_0005936 N/A Associate Underweight status rs12882679-G of NONHSAT168677.1 is significantly associated with the underweight status by using GWAS analysis in 953 bangladeshi ancestry underweight females//1,269 bangladeshi ancestry normal weight females//1,146 bangladeshi ancestry underweight males//1,106 normal weight males(p-value = 1E-6 ;OR = 0.057). 0.4 Genome-wide association studies and heritability estimates of body mass index related phenotypes in Bangladeshi adults. genome-wide association analysis NONHSAT168677.1 lncRNA Underweight body mass index status 0.33 CTGTGACTGT(G > A)TGCAGGTCAT chr14: 79380895 0.7532,0.2468 0.73330784913353720,0.26669215086646279 Region score:0.35; TSS score:0.21; Unmatched score:0.08; Average GERP:-1.1231988505747132 GeneName:NRXN3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000021645; TranscriptID:ENST00000635466; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000711 26830138 NONHSAT184066.1 rs148822902 C N/A 2,478 european ancestry cases//979 ancestry controls both from the same 1,070 families EFO_0000249 N/A Associate Alzheimer disease and age of onset rs148822902-C of NONHSAT184066.1 is significantly associated with the alzheimer disease and age of onset by using GWAS analysis in 2,478 european ancestry cases//979 ancestry controls both from the same 1,070 families(p-value = 1E-6 ;OR = 4.901). 0.4 Family-based association analyses of imputed genotypes reveal genome-wide significant association of Alzheimer's disease with OSBPL6, PTPRG, and PDCL3. genome-wide association analysis NONHSAT184066.1 lncRNA Alzheimers disease 0.33 CAAATTGGCT(C > G)CAAGGAAAAA chr2: 4989398 0.9914,0.008586 0.97674566768603465,0.02325433231396534 Region score:0.31; TSS score:0.11; Unmatched score:0.1; Average GERP:-0.9221762376237628 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000712 24658012 miR-146a rs10893872 C N/a 520 pediatric uveitis patients and 1204 healthy controls EFO_1001231 N/A Increasing risk Pediatric uveitis rs10893872-C of miR-146a and its dysfunction is significantly associated with the increasing risk of pediatric uveitis by using case-control analysis in 520 pediatric uveitis patients and 1204 healthy controls. 0.4 MicroRNA-146a and Ets-1 gene polymorphisms are associated with pediatric uveitis. case-control analysis hsa-mir-146a miRNA Uveitis 0.33 ACAGCTTAAA(T > C)TACAGGTTTG chr11: 128455658 0.5717,0.4283 0.56867195463812436,0.43132804536187563 Region score:0.26; TSS score:0.24; Unmatched score:0.17; Average GERP:-0.6673445544554455 GeneName:ETS1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000134954; TranscriptID:ENST00000392668; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000713 24700089 NONHSAT152445.1 rs12068654 T N/A 226 japanese ancestry cases//186 japanese ancestry controls EFO_0000249 N/A Associate Cervical cancer rs12068654-T of NONHSAT152445.1 is significantly associated with the cervical cancer by using GWAS analysis in 226 japanese ancestry cases//186 japanese ancestry controls(p-value = 5E-6 ;OR = 3.23). 0.4 Genome-wide association study of HPV-associated cervical cancer in Japanese women. genome-wide association analysis NONHSAT152445.1 lncRNA Alzheimers disease 0.33 CACAAGTTAG(T > G)AATTGGGAGA chr1: 160773959 0.7997,0.2003 0.74159021406727828,0.25840978593272171 Region score:0.36; TSS score:0.33; Unmatched score:0.19; Average GERP:0.3018702970297029 GeneName:AL121985.2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000274562; TranscriptID:ENST00000621192; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AL121985.3; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000275801; TranscriptID:ENST00000620690; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000714 26584805 NONHSAT040928.2 rs7403037 T N/A 717 singaporean chinese ancestry myocardial infarction cases//644 singaporean chinese ancestry controls EFO_0000319 N/A Associate Plasma omega-3 polyunsaturated fatty acid levels (docosahexaenoic acid) rs7403037-T of NONHSAT040928.2 is significantly associated with the plasma omega-3 polyunsaturated fatty acid levels (docosahexaenoic acid) by using GWAS analysis in 717 singaporean chinese ancestry myocardial infarction cases//644 singaporean chinese ancestry controls(p-value = 4E-6 ;OR = 0.12). 0.4 A genome-wide association study of n-3 and n-6 plasma fatty acids in a Singaporean Chinese population. genome-wide association analysis NONHSAT040928.2 lncRNA Cardiovascular disease 0.33 TCCAGTACAA(T > G)GTTGCGAACA chr15: 24573350 0.8331,0.1669 0.79460531345565749,0.20539468654434250 Region score:0.21; TSS score:0.21; Unmatched score:0.12; Average GERP:-0.16819801980198018 GeneName:PWRN1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000259905; TranscriptID:ENST00000568609; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000715 28604730 NONHSAT184768.1 rs1039766 T N/A 11,273 european ancestry cases// 55,483 european ancestry controls EFO_0000571 N/A Associate Lung adenocarcinoma rs1039766-T of NONHSAT184768.1 is significantly associated with the lung adenocarcinoma by using GWAS analysis in 11,273 european ancestry cases// 55,483 european ancestry controls(p-value = 3E-6 ;OR = 1.1111958). 0.4 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. genome-wide association analysis NONHSAT184768.1 lncRNA Lung adenocancer 0.33 AATCCCGCGG(C > T)ATCTCAGAGG chr2: 65293011 0.8139,0.1861 0.85896088175331294,0.14103911824668705 Region score:0.39; TSS score:0.46; Unmatched score:0.38; Average GERP:-0.9581633663366335 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000608242; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000716 26502338 NONHSAT018769.2 rs2732549 T N/A 5,201 european ancestry cases//9,066 european ancestry controls; 2,018 european ancestry cases//6,925 european ancestry controls EFO_0002690 N/A Associate Systemic lupus erythematosus rs2732549-T of NONHSAT018769.2 is significantly associated with the systemic lupus erythematosus by using GWAS analysis in 5,201 european ancestry cases//9,066 european ancestry controls; 2,018 european ancestry cases//6,925 european ancestry controls(p-value = 1E-23 ;OR = 1.24). 0.4 Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus. genome-wide association analysis NONHSAT018769.2 lncRNA Systemic lupus erythematosus 0.33 CTTGACATGA(G > A,C)TCCCATTAGC chr11: 35066852 0.2175,0.7825,. 0.28334448267074413,0.69509747706422018,0.02155804026503567 Region score:0.29; TSS score:0.43; Unmatched score:0.27; Average GERP:0.12782178217821782 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000427923; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000717 23111177 CDKN2B-AS1 rs1012068 ? Dominant 976 POAG cases from the Glaucoma Genes and Environment (GLAUGEN) study and 1971 cases from the National Eye Institute Glaucoma Human Genetics Collaboration (NEIGHBOR) consortium EFO_0004190 N/A decreasing risk open-angle glaucoma rs1012068-? of CDKN2B-AS1 and its dysfunction is significantly associated with the decreasing risk of Open-angle glaucoma by using case-control analysis in 976 POAG cases from the Glaucoma Genes and Environment (GLAUGEN) study and 1971 cases from the National Eye Institute Glaucoma Human Genetics Collaboration (NEIGHBOR) consortium 0.4 CDKN2B-AS1 genotype-glaucoma feature correlations in primary open-angle glaucoma patients from the United States. case-control analysis CDKN2B-AS1 lncRNA Open-angle glaucoma 0.33 TCAGGGGCTA(T > G)TTAGAAGAAT chr22: 31869917 0.6126,0.3874 0.63367259174311926,0.36632740825688073 Region score:0.36; TSS score:0.13; Unmatched score:0.3; Average GERP:-0.9989536633663366 GeneName:DEPDC5; CADD-Score:2; Consquence:intron; GeneID:ENSG00000100150; TranscriptID:ENST00000400246; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000670238; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:Z82190.2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000285404; TranscriptID:ENST00000646701; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000718 27082954 NONHSAT156135.1 rs499832 C N/A 104 european ancestry cases//1,519 european ancestry controls//34 african american cases//520 african american controls EFO_0004265 traffic-related air pollution interaction Associate Peripheral arterial disease (traffic-related air pollution interaction) rs499832-C of NONHSAT156135.1 is significantly associated with the peripheral arterial disease (traffic-related air pollution interaction) by using GWAS analysis in 104 european ancestry cases//1,519 european ancestry controls//34 african american cases//520 african american controls(p-value = 2E-7 ;OR = 6.66). 0.4 Genetic Variants in the Bone Morphogenic Protein Gene Family Modify the Association between Residential Exposure to Traffic and Peripheral Arterial Disease. genome-wide association analysis NONHSAT156135.1 lncRNA Peripheral arterial disease 0.33 TGCTTTATCC(T > A,G)CAGTCTCTAG chr10: 113310381 0.1124,.,0.8876 0.10269336136595310,0.00358371559633027,0.89372292303771661 Region score:0.22; TSS score:0.36; Unmatched score:0.16; Average GERP:-1.3247386138613861 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000033629; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000719 24630744 miR-196a2 rs11614913 T N/a 301 male patients with auds and 156 sex-matched healthy volunteers EFO_0003829 N/A No significance for risk Alcohol use disorders rs11614913-T of miR-196a2 and its dysfunction is not significantly associated with alcohol use disorders by using case-control analysis in 301 male patients with AUDs and 156 sex-matched healthy volunteers. -0.4 A genetic variant in the microRNA-146a gene is associated with susceptibility to alcohol use disorders. case-control analysis hsa-mir-196a-2 miRNA Alcohol dependence -0.33 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000720 27863252 NONHSAT055443.2 rs60432162 C N/A 171,771 european ancestry individuals EFO_0009389 N/A Associate Sum eosinophil basophil counts rs60432162-C of NONHSAT055443.2 is significantly associated with the sum eosinophil basophil counts by using GWAS analysis in 171,771 european ancestry individuals(p-value = 2E-17 ;OR = 0.0388262). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT055443.2 lncRNA Sum of eosinophil and basophil counts 0.33 TGGCCCCTCC(CT > C)TTTTTTTTTT chr17: 67884421 0.5463,0.4537 0.66099643221202854,0.33900356778797145 N/A GeneName:BPTF; CADD-Score:2; Consquence:intron; GeneID:ENSG00000171634; TranscriptID:ENST00000306378; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000721 27863252 NONHSAT199166.1 rs7696658 T N/A 166,066 european ancestry individuals EFO_0004309 N/A Associate Platelet count rs7696658-T of NONHSAT199166.1 is significantly associated with the platelet count by using GWAS analysis in 166,066 european ancestry individuals(p-value = 4E-9 ;OR = 0.02147079). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT199166.1 lncRNA Platelet count 0.33 CCTCGTGATC(C > T)GCCTGCCTCA chr4: 144132045 0.6184,0.3816 0.60329861111111111,0.39670138888888888 Region score:0.25; TSS score:0.01; Unmatched score:0.02; Average GERP:0.08261386138613852 GeneName:AC098588.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000285783; TranscriptID:ENST00000650526; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC139713.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000251600; TranscriptID:ENST00000641428; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GYPA; CADD-Score:2; Consquence:intron; GeneID:ENSG00000170180; TranscriptID:ENST00000641688; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000722 22566634 NONHSAT209490.1 rs240768 T N/A 9,617 european ancestry individuals EFO_0004827 N/A Associate Economic and political preferences (immigration/crime) rs240768-T of NONHSAT209490.1 is significantly associated with the economic and political preferences (immigration/crime) by using GWAS analysis in 9,617 european ancestry individuals(p-value = 2E-6 ;OR = 0.267). 0.4 The genetic architecture of economic and political preferences. genome-wide association analysis NONHSAT209490.1 lncRNA Economic and social preference 0.33 AACGTTGAGA(T > C)AGATGTCATA chr6: 100509468 0.8636,0.1364 0.89353975535168195,0.10646024464831804 Region score:0.55; TSS score:0.26; Unmatched score:0.54; Average GERP:3.239524752475247 GeneName:ASCC3; CADD-Score:7; Consquence:missense; GeneID:ENSG00000112249; TranscriptID:ENST00000369162; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000723 28181414 miR-146a rs6864584 C N/a 124 patients with comorbid ar and asthma (ar-a) and 206 healthy chinese children as controls EFO_0000270 N/A No significance for risk Asthma rs6864584-C of miR-146a and its dysfunction is not significantly associated with asthma by using case-control analysis in 124 patients with comorbid AR and asthma (AR-A) and 206 healthy Chinese children as controls. -0.4 A functional variant of miRNA-149 confers risk for allergic rhinitis and comorbid asthma in Chinese children. case-control analysis hsa-mir-146a miRNA Asthma -0.33 TGCAAGAGGG(T > C)CCCCGACCCG chr5: 160467978 0.9169,0.08307 0.93502325433231396,0.06497674566768603 Region score:0.4; TSS score:0.72; Unmatched score:0.94; Average GERP:-0.8406801980198021 GeneName:MIR3142HG; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775866; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000724 29228715 NONHSAT048401.2 rs16944613 ? N/A 978 austrian ancestry colorectal cancer cases//636 austrian ancestry advanced colorectal adenoma cases//4,294 european ancestry controls EFO_0005842 N/A Associate Colorectal cancer rs16944613-? of NONHSAT048401.2 is significantly associated with the colorectal cancer by using GWAS analysis in 978 austrian ancestry colorectal cancer cases//636 austrian ancestry advanced colorectal adenoma cases//4,294 european ancestry controls(p-value = 2E-6 ;OR = 1.343). 0.4 Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas. genome-wide association analysis NONHSAT048401.2 lncRNA Colorectal cancer 0.33 AATTCACTGT(A > G)ACAGTAAACA chr15: 90595866 0.3812,0.6188 0.33931415647298674,0.66068584352701325 Region score:0.34; TSS score:0.24; Unmatched score:0.66; Average GERP:-1.6290376237623767 GeneName:AC103739.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000259212; TranscriptID:ENST00000558389; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CRTC3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000140577; TranscriptID:ENST00000268184; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000725 20041166 NONHSAT207105.1 rs2395029 ? N/A 2,362 european ancestry cases EFO_0000180 N/A Associate Hiv-1 control rs2395029-? of NONHSAT207105.1 is significantly associated with the hiv-1 control by using GWAS analysis in 2,362 european ancestry cases(p-value = 1E-11 ;OR = ?). 0.4 Common genetic variation and the control of HIV-1 in humans. genome-wide association analysis NONHSAT207105.1 lncRNA Hiv-1 infection 0.52 AATTCCCCTG(T > G)GGCAGCTGTA chr6: 31464003 0.9667,0.03335 0.97352828746177370,0.02647171253822629 Region score:0.33; TSS score:0.37; Unmatched score:0.78; Average GERP:0 GeneName:AL645933.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000233902; TranscriptID:ENST00000440087; AnnoType:UPSTREAM; mirSVR-Score:-0.2598; mirSVR-E:-16.72 | GeneName:HCP5; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000206337; TranscriptID:ENST00000414046; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.2598; mirSVR-E:-16.72 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000195544; AnnoType:REGULATORY; mirSVR-Score:-0.2598; mirSVR-E:-16.72 | NCRV0000000725 21051598 NONHSAT207105.1 rs2395029 G N/A 516 european cases//1,196 european controls//341 african american cases//892 african american controls//117 hispanic cases//560 hispanic controls EFO_0000180 N/A Associate Hiv-1 control rs2395029-G of NONHSAT207105.1 is significantly associated with the hiv-1 control by using GWAS analysis in 516 european cases//1,196 european controls//341 african american cases//892 african american controls//117 hispanic cases//560 hispanic controls(p-value = 1E-25 ;OR = 5.3). 0.4 The major genetic determinants of HIV-1 control affect HLA class I peptide presentation. genome-wide association analysis NONHSAT207105.1 lncRNA Hiv-1 infection 0.52 AATTCCCCTG(T > G)GGCAGCTGTA chr6: 31464003 0.9667,0.03335 0.97352828746177370,0.02647171253822629 Region score:0.33; TSS score:0.37; Unmatched score:0.78; Average GERP:0 GeneName:AL645933.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000233902; TranscriptID:ENST00000440087; AnnoType:UPSTREAM; mirSVR-Score:-0.2598; mirSVR-E:-16.72 | GeneName:HCP5; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000206337; TranscriptID:ENST00000414046; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.2598; mirSVR-E:-16.72 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000195544; AnnoType:REGULATORY; mirSVR-Score:-0.2598; mirSVR-E:-16.72 | NCRV0000000725 20041166 NONHSAT207105.1 rs2395029 G N/A 2,362 european ancestry cases EFO_0000180 N/A Associate Hiv-1 control rs2395029-G of NONHSAT207105.1 is significantly associated with the hiv-1 control by using GWAS analysis in 2,362 european ancestry cases(p-value = 5E-35 ;OR = 5.8). 0.4 Common genetic variation and the control of HIV-1 in humans. genome-wide association analysis NONHSAT207105.1 lncRNA Hiv-1 infection 0.52 AATTCCCCTG(T > G)GGCAGCTGTA chr6: 31464003 0.9667,0.03335 0.97352828746177370,0.02647171253822629 Region score:0.33; TSS score:0.37; Unmatched score:0.78; Average GERP:0 GeneName:AL645933.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000233902; TranscriptID:ENST00000440087; AnnoType:UPSTREAM; mirSVR-Score:-0.2598; mirSVR-E:-16.72 | GeneName:HCP5; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000206337; TranscriptID:ENST00000414046; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.2598; mirSVR-E:-16.72 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000195544; AnnoType:REGULATORY; mirSVR-Score:-0.2598; mirSVR-E:-16.72 | NCRV0000000726 24564958 NONHSAT018228.2 rs1557765 C N/A up to 5,628 european ancestry individuals EFO_0005427 N/A Associate Social communication problems rs1557765-C of NONHSAT018228.2 is significantly associated with the social communication problems by using GWAS analysis in up to 5,628 european ancestry individuals(p-value = 7E-6 ;OR = 0.12). 0.4 Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence. genome-wide association analysis NONHSAT018228.2 lncRNA Social communication impairment 0.33 TCCCATAGAT(T > C)AGTGCCCTAG chr11: 17382092 0.2768,0.7232 0.29310811671763506,0.70689188328236493 Region score:0.26; TSS score:0.36; Unmatched score:0.39; Average GERP:-0.42007188118811867 GeneName:AC124798.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000260196; TranscriptID:ENST00000568280; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:KCNJ11; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000187486; TranscriptID:ENST00000339994; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NCR3LG1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000188211; TranscriptID:ENST00000338965; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000727 28448500 NONHSAT200487.1 rs7689420 ? N/A 2,518 african american women//85,730 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//54,792 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men EFO_0007789 joint analysis main effects and physical activity interaction Associate Waist circumference adjusted for bmi (joint analysis main effects and physical activity interaction) rs7689420-? of NONHSAT200487.1 is significantly associated with the waist circumference adjusted for bmi (joint analysis main effects and physical activity interaction) by using GWAS analysis in 2,518 african american women//85,730 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//54,792 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men(p-value = 1E-9 ;OR = ?). 0.4 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. genome-wide association analysis NONHSAT200487.1 lncRNA Bmi-adjusted waist circumference 0.451 AAAACAGACG(T > C)TTCTGCGGTA chr4: 144647200 0.249,0.751 0.22625987512742099,0.77374012487257900 Region score:0.43; TSS score:0.6; Unmatched score:0.94; Average GERP:1.2217870495049505 GeneName:AC098588.1; CADD-Score:2; Consquence:intron,NMD; GeneID:ENSG00000285713; TranscriptID:ENST00000649263; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC098588.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000285783; TranscriptID:ENST00000650526; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HHIP-AS1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000248890; TranscriptID:ENST00000508269; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HHIP; CADD-Score:2; Consquence:intron; GeneID:ENSG00000164161; TranscriptID:ENST00000296575; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000174204; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000727 28448500 NONHSAT200487.1 rs7689420 C N/A 2,518 african american women//85,730 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//54,792 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men EFO_0007789 joint analysis main effects and physical activity interaction Associate Waist circumference adjusted for bmi in active individuals rs7689420-C of NONHSAT200487.1 is significantly associated with the waist circumference adjusted for bmi in active individuals by using GWAS analysis in 2,518 african american women//85,730 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//54,792 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men(p-value = 3E-8 ;OR = 0.042). 0.4 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. genome-wide association analysis NONHSAT200487.1 lncRNA Bmi-adjusted waist circumference 0.451 AAAACAGACG(T > C)TTCTGCGGTA chr4: 144647200 0.249,0.751 0.22625987512742099,0.77374012487257900 Region score:0.43; TSS score:0.6; Unmatched score:0.94; Average GERP:1.2217870495049505 GeneName:AC098588.1; CADD-Score:2; Consquence:intron,NMD; GeneID:ENSG00000285713; TranscriptID:ENST00000649263; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC098588.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000285783; TranscriptID:ENST00000650526; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HHIP-AS1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000248890; TranscriptID:ENST00000508269; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HHIP; CADD-Score:2; Consquence:intron; GeneID:ENSG00000164161; TranscriptID:ENST00000296575; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000174204; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000728 19079262 NONHSAT184477.1 rs4670779 T N/A 6,865 european ancestry individuals; 8,510 european ancestry individuals EFO_0007701 N/A Associate Bone mineral density (spine) rs4670779-T of NONHSAT184477.1 is significantly associated with the bone mineral density (spine) by using GWAS analysis in 6,865 european ancestry individuals; 8,510 european ancestry individuals(p-value = 4E-6 ;OR = 0.07). 0.4 New sequence variants associated with bone mineral density. genome-wide association analysis NONHSAT184477.1 lncRNA Spine bone mineral density 0.33 ATGACCTTGG(C > T)TCATAAATAC chr2: 37817201 0.7941,0.2059 0.76768762742099898,0.23231237257900101 Region score:0.26; TSS score:0.07; Unmatched score:0.35; Average GERP:0.7838029702970299 GeneName:AC010878.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000225402; TranscriptID:ENST00000456500; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000729 19023125 NONHSAT188325.1 rs1574192 ? N/A 46 european ancestry cases//60 european ancestry controls//18 cases//14 controls EFO_0004346 in schizophrenia (dorsolateral prefrontal cortex interaction) Associate Brain imaging in schizophrenia (dorsolateral prefrontal cortex interaction) rs1574192-? of NONHSAT188325.1 is significantly associated with the brain imaging in schizophrenia (dorsolateral prefrontal cortex interaction) by using GWAS analysis in 46 european ancestry cases//60 european ancestry controls//18 cases//14 controls(p-value = 4E-6 ;OR = ?). 0.4 A genome-wide association study of schizophrenia using brain activation as a quantitative phenotype. genome-wide association analysis NONHSAT188325.1 lncRNA Neuroimaging measurement 0.33 GACCGTGTGG(G > A)GGTTAAATGT chr2: 240369088 0.8472,0.1528 0.75045393730886850,0.24954606269113149 Region score:0.33; TSS score:0.51; Unmatched score:0.28; Average GERP:-0.1994762376237623 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000133131; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000730 29304813 miR-100 rs1834306 T N/a 287 myocardial infarction cases and 646 control subjects EFO_0000612 N/A No significance for risk Myocardial infarction rs1834306-T of miR-100 and its dysfunction is not significantly associated with myocardial infarction by using case-control analysis in 287 myocardial infarction cases and 646 control subjects. -0.4 The association between pre-miR-27a rs895819 polymorphism and myocardial infarction risk in a Chinese Han population. case-control analysis hsa-mir-100 miRNA Myocardial infarction -0.33 GTTCTCCCCA(A > G)CGTGCTTCCC chr11: 122152479 0.5471,0.4529 0.52398700305810397,0.47601299694189602 Region score:0.42; TSS score:0.47; Unmatched score:0.58; Average GERP:-2.193261089108911 GeneName:MIR100; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207994; TranscriptID:ENST00000385259; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR100HG; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000255248; TranscriptID:ENST00000534782; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000731 26100672 CASC15-S rs9295534 A Dominant European ancestry cohort of 2,101 neuroblastoma cases and 4,202 controls EFO_0000621 N/A Increasing risk Neuroblastoma rs9295534-A of CASC15-S and its dysfunction is significantly associated with the increasing risk of Neuroblastoma by using genome-wide association analysis in European ancestry cohort of 2,101 neuroblastoma cases and 4,202 controls. By using the disease cell lines or tissues, the interference and mutation of CASC15-S has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. Moreover, the ncRNA variation-disease association was validated by complex experiments. 1.4 CASC15-S Is a Tumor Suppressor lncRNA at the 6p22 Neuroblastoma Susceptibility Locus. genome-wide association analysis; Function; Mechanism CASC15-S lncRNA Neuroblastoma 0.753 AACATAAAAG(T > A)CTTTGATATT chr6: 22113161 0.402,0.598 0.44152172528032619,0.55847827471967380 Region score:0.42; TSS score:0.42; Unmatched score:0.39; Average GERP:2.129433663366336 GeneName:CASC15; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000272168; TranscriptID:ENST00000444265; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000785619; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000732 22228203 NONHSAT061502.2 rs3764563 ? N/A 1,092 european ancestry individuals GO_1901557 N/A Associate Inflammatory biomarkers rs3764563-? of NONHSAT061502.2 is significantly associated with the inflammatory biomarkers by using GWAS analysis in 1,092 european ancestry individuals(p-value = 3E-7 ;OR = ?). 0.4 A genome-wide association study of inflammatory biomarker changes in response to fenofibrate treatment in the Genetics of Lipid Lowering Drug and Diet Network. genome-wide association analysis NONHSAT061502.2 lncRNA Response to fenofibrate 0.33 GCCAGATTTC(A > G,T)CTTCCCACCT chr19: 15613392 0.09485,0.9052,. 0.06186289500509683,0.91866558358817533,0.01947152140672782 Region score:0.21; TSS score:0.41; Unmatched score:0.42; Average GERP:-1.1715268673267325 GeneName:AC093072.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000266951; TranscriptID:ENST00000589196; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AD000091.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000267135; TranscriptID:ENST00000592379; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CYP4F8; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000186526; TranscriptID:ENST00000612078; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RPL23AP2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000225067; TranscriptID:ENST00000471227; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000733 27117709 NONHSAT215675.1 rs13365225 ? N/A 4,939 european ancestry estrogen receptor-negative cases//14,352 european ancestry controls; 7,333 european ancestry estrogen receptor-negative cases//7,797 european ancestry brca1 mutation carrier cases//7,455 european ancestry brca1 mutation carrier controls//42,468 european ancestry controls EFO_0000305 N/A Associate Breast cancer rs13365225-? of NONHSAT215675.1 is significantly associated with the breast cancer by using GWAS analysis in 4,939 european ancestry estrogen receptor-negative cases//14,352 european ancestry controls; 7,333 european ancestry estrogen receptor-negative cases//7,797 european ancestry brca1 mutation carrier cases//7,455 european ancestry brca1 mutation carrier controls//42,468 european ancestry controls(p-value = 7E-6 ;OR = 1.0416667). 0.4 Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer. genome-wide association analysis NONHSAT215675.1 lncRNA Breast cancer 0.52 GTAATTCTGA(A > G)AAAACGAGGG chr8: 37000965 0.7065,0.2935 0.73473337155963302,0.26526662844036697 Region score:0.55; TSS score:0.66; Unmatched score:0.31; Average GERP:1.162762376237624 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000733 29059683 NONHSAT215675.1 rs13365225 A N/A 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls EFO_0000305 N/A Associate Breast cancer rs13365225-A of NONHSAT215675.1 is significantly associated with the breast cancer by using GWAS analysis in 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls(p-value = 1E-20 ;OR = 1.098901). 0.4 Association analysis identifies 65 new breast cancer risk loci. genome-wide association analysis NONHSAT215675.1 lncRNA Breast cancer 0.52 GTAATTCTGA(A > G)AAAACGAGGG chr8: 37000965 0.7065,0.2935 0.73473337155963302,0.26526662844036697 Region score:0.55; TSS score:0.66; Unmatched score:0.31; Average GERP:1.162762376237624 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000733 25751625 NONHSAT215675.1 rs13365225 A N/A 15,748 european ancestry cases//18,084 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls EFO_0000305 N/A Associate Breast cancer rs13365225-A of NONHSAT215675.1 is significantly associated with the breast cancer by using GWAS analysis in 15,748 european ancestry cases//18,084 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls(p-value = 1E-8 ;OR = 1.0526316). 0.4 Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer. genome-wide association analysis NONHSAT215675.1 lncRNA Breast cancer 0.52 GTAATTCTGA(A > G)AAAACGAGGG chr8: 37000965 0.7065,0.2935 0.73473337155963302,0.26526662844036697 Region score:0.55; TSS score:0.66; Unmatched score:0.31; Average GERP:1.162762376237624 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000734 26634245 NONHSAT047596.2 rs8027972 T N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs8027972-T of NONHSAT047596.2 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 1E-6 ;OR = 0.048). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT047596.2 lncRNA Pulmonary function measurement 0.33 CCTGCTTGAT(T > C)GATTGGGTTT chr15: 78730273 0.7007,0.2993 0.66010448521916411,0.33989551478083588 Region score:0.29; TSS score:0.23; Unmatched score:0.31; Average GERP:0.5509306930693074 GeneName:AC022748.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000261303; TranscriptID:ENST00000564933; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CHRNB4; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000117971; TranscriptID:ENST00000558216; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000735 22778062 SNORA38B rs9906731 G N/A N/A function N/A not significant changes in the structure function rs9906731-G of SNORA38B and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in nan -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORA38B snoRNA function -0.049 ACCATCCCAC(A > G,T)TAGAAGCAGT chr17: 67740796 0.977,0.02296,. 0.97581390163098878,0.02417813455657492,0.00000796381243628 Region score:0.41; TSS score:0.02; Unmatched score:0.3; Average GERP:-0.006006019801980438 GeneName:NOL11; CADD-Score:2; Consquence:intron; GeneID:ENSG00000130935; TranscriptID:ENST00000253247; AnnoType:INTRONIC; mirSVR-Score:-1.2082; mirSVR-E:-24.83 | GeneName:SNORA38B; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000200394; TranscriptID:ENST00000363524; AnnoType:NONCODING_CHANGE; mirSVR-Score:-1.2082; mirSVR-E:-24.83 | NCRV0000000736 29059683 NONHSAT193973.1 rs1053338 G N/A 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls EFO_0000305 N/A Associate Breast cancer rs1053338-G of NONHSAT193973.1 is significantly associated with the breast cancer by using GWAS analysis in 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls(p-value = 5E-11 ;OR = 1.05). 0.4 Association analysis identifies 65 new breast cancer risk loci. genome-wide association analysis NONHSAT193973.1 lncRNA Breast cancer 0.451 ATTCATCCGA(A > G)AATGGATGGC chr3: 63982224 0.8854,0.1146 0.88975694444444444,0.11024305555555555 Region score:0.54; TSS score:0.31; Unmatched score:0.7; Average GERP:2.846485148514852 GeneName:ATXN7; CADD-Score:7; Consquence:missense; GeneID:ENSG00000163635; TranscriptID:ENST00000538065; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ATXN7; CADD-Score:7; Consquence:missense; GeneID:ENSG00000285258; TranscriptID:ENST00000295900; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000736 25751625 NONHSAT193973.1 rs1053338 G N/A 15,748 european ancestry cases//18,084 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls EFO_0000305 N/A Associate Breast cancer rs1053338-G of NONHSAT193973.1 is significantly associated with the breast cancer by using GWAS analysis in 15,748 european ancestry cases//18,084 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls(p-value = 9E-9 ;OR = 1.08). 0.4 Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer. genome-wide association analysis NONHSAT193973.1 lncRNA Breast cancer 0.451 ATTCATCCGA(A > G)AATGGATGGC chr3: 63982224 0.8854,0.1146 0.88975694444444444,0.11024305555555555 Region score:0.54; TSS score:0.31; Unmatched score:0.7; Average GERP:2.846485148514852 GeneName:ATXN7; CADD-Score:7; Consquence:missense; GeneID:ENSG00000163635; TranscriptID:ENST00000538065; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ATXN7; CADD-Score:7; Consquence:missense; GeneID:ENSG00000285258; TranscriptID:ENST00000295900; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000737 29803923 HULC rs76371722 G N/a 521 patients and 817 sex- and age (隆脌5) frequency-matched controls in the risk study; among them, 351 hepatocellular cancer patients were involved in the prognosis study. EFO_0000182 N/A No significance for risk Hepatocellular cancer rs76371722-G of HULC and its dysfunction is not significantly associated with hepatocellular cancer by using case-control analysis in 521 patients and 817 sex- and age (隆脌5) frequency-matched controls in the risk study; Among them, 351 hepatocellular cancer patients were involved in the prognosis study. . -0.4 The association of lncRNA-HULC polymorphisms with hepatocellular cancer risk and prognosis. case-control analysis HULC lncRNA Hepatocellular cancer -0.33 TTCACTTTTA(C > G)CTTTCAAATC chr6: 8652918 0.9243,0.07568 0.92767265545361875,0.07232734454638124 Region score:0.26; TSS score:0.38; Unmatched score:0.76; Average GERP:-1.18199702970297 GeneName:AL355499.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000285216; TranscriptID:ENST00000644718; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AL591485.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000285219; TranscriptID:ENST00000642357; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF02101; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000276019; TranscriptID:ENST00000612720; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000738 28928442 NONHSAT211331.1 rs138560005 ? N/A 2,442 european ancestry cases//217,137 european ancestry controls EFO_0008415 N/A Associate Hepatitis a rs138560005-? of NONHSAT211331.1 is significantly associated with the hepatitis a by using GWAS analysis in 2,442 european ancestry cases//217,137 european ancestry controls(p-value = 6E-6 ;OR = 7.7623). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. genome-wide association analysis NONHSAT211331.1 lncRNA Susceptibility to hepatitis a infection measurement 0.33 CCCCATTACC(A > G)GATCTCCCTC chr6: 158227749 0.9998,0.0001997 0.99938678644240570,0.00061321355759429 Region score:0.36; TSS score:0.17; Unmatched score:0.16; Average GERP:0.10621544554455449 GeneName:TULP4; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000130338; TranscriptID:ENST00000620026; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000739 23372812 miR-22 rs7223247 T Dominant 255 families comprising 1,425 individuals EFO_0003144 N/A increasing risk heart failure rs7223247-T of hsa-mir-22 and its dysfunction is significantly associated with the increasing risk of Heart failure by using case-control analysis in 255 families comprising 1,425 individuals 0.4 Common variation neighbouring micro-RNA 22 is associated with increased left ventricular mass. case-control analysis hsa-mir-22 miRNA Heart failure 0.33 GTTTTGTTTT(T > G)TTTTGAAGAC chr17: 1705735 0.2766,0.7234 0.20779179408766564,0.79220820591233435 Region score:0.36; TSS score:0.31; Unmatched score:0.28; Average GERP:0.07957928571428573 GeneName:TLCD2; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000185561; TranscriptID:ENST00000330676; AnnoType:3PRIME_UTR; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000740 24249740 NONHSAT202867.1 rs6894139 ? N/A 5,833 european ancestry females//2,639 european ancestry males//784 han chinese ancestry females//763 han chinese ancestry males//712 african american females//409 hispanic females; 7,010 european ancestry females//3,772 european ancestry males//2,980 east asian ancestry females//2,159 east asian ancestry males EFO_0003923 N/A Associate Bone mineral density rs6894139-? of NONHSAT202867.1 is significantly associated with the bone mineral density by using GWAS analysis in 5,833 european ancestry females//2,639 european ancestry males//784 han chinese ancestry females//763 han chinese ancestry males//712 african american females//409 hispanic females; 7,010 european ancestry females//3,772 european ancestry males//2,980 east asian ancestry females//2,159 east asian ancestry males(p-value = 7E-18 ;OR = ?). 0.4 Multistage genome-wide association meta-analyses identified two new loci for bone mineral density. genome-wide association analysis NONHSAT202867.1 lncRNA Bone density 0.33 ATTTTTCTAG(T > G)ATTATTAAAT chr5: 89031965 0.4127,0.5873 0.42029020132517838,0.57970979867482161 Region score:0.35; TSS score:0.34; Unmatched score:0.35; Average GERP:0.6237425742574255 GeneName:MEF2C-AS1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000248309; TranscriptID:ENST00000511100; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000741 27863252 NONHSAT076891.2 rs55799208 A N/A 169,545 european ancestry individuals EFO_0007997 N/A Associate Granulocyte percentage of myeloid white cells rs55799208-A of NONHSAT076891.2 is significantly associated with the granulocyte percentage of myeloid white cells by using GWAS analysis in 169,545 european ancestry individuals(p-value = 1E-20 ;OR = 0.3327092). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT076891.2 lncRNA Granulocyte percentage of myeloid white cells 0.33 CATGCCACAC(G > A)CACACTGACC chr2: 218135259 0.9992,0.0007987 0.99875764525993883,0.00124235474006116 Region score:0.3; TSS score:0.45; Unmatched score:0.56; Average GERP:2.868386138613863 GeneName:CXCR2; CADD-Score:7; Consquence:missense; GeneID:ENSG00000180871; TranscriptID:ENST00000318507; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000742 27863252 NONHSAT076891.2 rs55799208 A N/A 170,384 european ancestry individuals EFO_0009390 N/A Associate Sum neutrophil eosinophil counts rs55799208-A of NONHSAT076891.2 is significantly associated with the sum neutrophil eosinophil counts by using GWAS analysis in 170,384 european ancestry individuals(p-value = 2E-41 ;OR = 0.4845187). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT076891.2 lncRNA Sum of neutrophil and eosinophil counts 0.33 CATGCCACAC(G > A)CACACTGACC chr2: 218135259 0.9992,0.0007987 0.99875764525993883,0.00124235474006116 Region score:0.3; TSS score:0.45; Unmatched score:0.56; Average GERP:2.868386138613863 GeneName:CXCR2; CADD-Score:7; Consquence:missense; GeneID:ENSG00000180871; TranscriptID:ENST00000318507; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000743 24097068 NONHSAT150563.1 rs2642442 C N/A 94,595 european ancestry individuals; 93,982 european ancestry individuals EFO_0000319 N/A Associate Cholesterol//total rs2642442-C of NONHSAT150563.1 is significantly associated with the cholesterol//total by using GWAS analysis in 94,595 european ancestry individuals; 93,982 european ancestry individuals(p-value = 3E-11 ;OR = 0.035). 0.4 Discovery and refinement of loci associated with lipid levels. genome-wide association analysis NONHSAT150563.1 lncRNA Cardiovascular disease 0.451 TCTGAGTGTT(C > T)CCTAGTTGAG chr1: 220800221 0.2406,0.7594 0.26459766819571865,0.73540233180428134 Region score:0.25; TSS score:0.08; Unmatched score:0.15; Average GERP:-0.4724792079207923 GeneName:MARC1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000186205; TranscriptID:ENST00000366910; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000743 20686565 NONHSAT150563.1 rs2642442 T N/A 100,184 european ancestry individuals EFO_0000319 N/A Associate Cholesterol//total rs2642442-T of NONHSAT150563.1 is significantly associated with the cholesterol//total by using GWAS analysis in 100,184 european ancestry individuals(p-value = 5E-13 ;OR = 1.38). 0.4 Biological, clinical and population relevance of 95 loci for blood lipids. genome-wide association analysis NONHSAT150563.1 lncRNA Cardiovascular disease 0.451 TCTGAGTGTT(C > T)CCTAGTTGAG chr1: 220800221 0.2406,0.7594 0.26459766819571865,0.73540233180428134 Region score:0.25; TSS score:0.08; Unmatched score:0.15; Average GERP:-0.4724792079207923 GeneName:MARC1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000186205; TranscriptID:ENST00000366910; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000744 23128233 NONHSAT210327.1 rs12663356 C N/A up to 12,924 european ancestry cases//up to 21,442 european ancestry controls; up to 25,683 european ancestry cases//up to 17,015 european ancestry controls EFO_0000384 N/A Associate Crohn's disease rs12663356-C of NONHSAT210327.1 is significantly associated with the crohn's disease by using GWAS analysis in up to 12,924 european ancestry cases//up to 21,442 european ancestry controls; up to 25,683 european ancestry cases//up to 17,015 european ancestry controls(p-value = 4E-12 ;OR = 1.095). 0.4 Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. genome-wide association analysis NONHSAT210327.1 lncRNA Crohn's disease 0.33 ACAGCATAAC(T > C)AGTATATAAA chr6: 21430497 0.5313,0.4687 0.48514748980632008,0.51485251019367991 Region score:0.38; TSS score:0.18; Unmatched score:0; Average GERP:-0.5088940594059408 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000745 21216879 NONHSAT172542.1 rs1065656 G N/A 10,280 european ancestry individuals EFO_0001360 N/A Associate Insulin-like growth factors rs1065656-G of NONHSAT172542.1 is significantly associated with the insulin-like growth factors by using GWAS analysis in 10,280 european ancestry individuals(p-value = 1E-11 ;OR = ?). 0.4 A genome-wide association study identifies novel loci associated with circulating IGF-I and IGFBP-3. genome-wide association analysis NONHSAT172542.1 lncRNA Type ii diabetes mellitus 0.33 CAGCGTCAGC(C > A,G)GGAGAGCTTC chr16: 1788835 0.3305,.,0.6695 0.28247642711518858,0.00005574668705402,0.71746782619775739 Region score:0.37; TSS score:0.42; Unmatched score:0.61; Average GERP:-2.211680198019802 GeneName:IGFALS; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000099769; TranscriptID:ENST00000415638; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0280; mirSVR-E:-29.02 | GeneName:NUBP2; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000095906; TranscriptID:ENST00000262302; AnnoType:3PRIME_UTR; mirSVR-Score:-0.0280; mirSVR-E:-29.02 | GeneName:SPSB3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000162032; TranscriptID:ENST00000569769; AnnoType:INTRONIC; mirSVR-Score:-0.0280; mirSVR-E:-29.02 | NCRV0000000746 28441456 NONHSAT200553.1 rs73856289 C N/A 2,187 european ancestry individuals EFO_0007841 N/A Associate Facial morphology (factor 20) rs73856289-C of NONHSAT200553.1 is significantly associated with the facial morphology (factor 20) by using GWAS analysis in 2,187 european ancestry individuals(p-value = 4E-6 ;OR = 0.1779). 0.4 Genome-wide association study of facial morphology reveals novel associations with FREM1 and PARK2. genome-wide association analysis NONHSAT200553.1 lncRNA Facial morphology measurement 0.33 AGATTCTTAA(G > A,C,T)GTCATAGAAG chr4: 148797573 0.9012,.,0.09884,. 0.85940685524974515,0.00009556574923547,0.14048961518858307,0.00000796381243628 Region score:0.36; TSS score:0.2; Unmatched score:0.03; Average GERP:-0.1516489473684211 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000747 24529757 NONHSAT196210.1 rs11921451 ? N/A 250 han chinese ancestry cases//250 han chinese ancestry controls EFO_0001357 N/A Associate Amyotrophic lateral sclerosis (sporadic) rs11921451-? of NONHSAT196210.1 is significantly associated with the amyotrophic lateral sclerosis (sporadic) by using GWAS analysis in 250 han chinese ancestry cases//250 han chinese ancestry controls(p-value = 5E-6 ;OR = ?). 0.4 Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations. genome-wide association analysis NONHSAT196210.1 lncRNA Sporadic amyotrophic lateral sclerosis 0.33 AAGGCTTTAA(G > T)TCACTTCATT chr3: 127068316 0.8524,0.1476 0.81946037206931702,0.18053962793068297 Region score:0.21; TSS score:0.21; Unmatched score:0.15; Average GERP:-1.2561772277227716 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000699753; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000748 24324551 NONHSAT112894.2 rs61018535 ? N/A 580 brazilian ancestry individuals EFO_0005529 N/A Associate Pr interval in tripanosoma cruzi seropositivity rs61018535-? of NONHSAT112894.2 is significantly associated with the pr interval in tripanosoma cruzi seropositivity by using GWAS analysis in 580 brazilian ancestry individuals(p-value = 2E-7 ;OR = ?). 0.4 Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects. genome-wide association analysis NONHSAT112894.2 lncRNA Chagas cardiomyopathy 0.33 ACCCCCCCCC(C > A,T)AAAAAAAAAC chr6: 43481492 0.8446,0.1554,. 0.86493374108053007,0.13504236748216106,0.00002389143730886 Region score:0.38; TSS score:0.18; Unmatched score:0.17; Average GERP:0.13877070707070696 GeneName:TJAP1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000137221; TranscriptID:ENST00000372445; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000749 21378990 NONHSAT115907.2 rs3798220 C N/A 22,233 european ancestry cases//64,762 european ancestry controls; 56,682 european ancestry cases and controls EFO_0001645 N/A Associate Coronary heart disease rs3798220-C of NONHSAT115907.2 is significantly associated with the coronary heart disease by using GWAS analysis in 22,233 european ancestry cases//64,762 european ancestry controls; 56,682 european ancestry cases and controls(p-value = 3E-11 ;OR = 1.51). 0.4 Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. genome-wide association analysis NONHSAT115907.2 lncRNA Coronary heart disease 0.33 TAGACACTTC(T > C)ATTTCCTGAA chr6: 160540105 0.9487,0.05132 0.96530166921508664,0.03469833078491335 Region score:0.29; TSS score:0.31; Unmatched score:0.69; Average GERP:-0.20876138613861406 GeneName:LPA; CADD-Score:7; Consquence:missense; GeneID:ENSG00000198670; TranscriptID:ENST00000316300; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000750 28259691 HOTAIR rs1899663 T Dominant 128 Iranian prostate cancer patients and 250 normal male controls EFO_0001663 N/A no significance for risk prostate carcinoma rs1899663-T of HOTAIR and its dysfunction is not significantly associated with Prostate carcinoma by using case-control analysis in 128 Iranian prostate cancer patients and 250 normal male controls -0.4 HOTAIR genetic variants are associated with prostate cancer and benign prostate hyperplasia in an Iranian population. case-control analysis HOTAIR lncRNA Prostate carcinoma -0.33 TTGTTGTCAC(C > A)TCCACCCTCC chr12: 53967210 0.7462,0.2538 0.72418132008154943,0.27581867991845056 Region score:0.22; TSS score:0.34; Unmatched score:0.86; Average GERP:-0.48725445544554463 GeneName:AC012531.4; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000274817; TranscriptID:ENST00000616509; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC012531.5; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277129; TranscriptID:ENST00000611375; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOTAIR; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000228630; TranscriptID:ENST00000424518; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000458643; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01905; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000275589; TranscriptID:ENST00000611210; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01906; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000277994; TranscriptID:ENST00000611352; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000751 17903293 NONHSAT114235.2 rs1417352 ? N/A 1,012 european ancestry individuals EFO_0004789 N/A Associate Select biomarker traits rs1417352-? of NONHSAT114235.2 is significantly associated with the select biomarker traits by using GWAS analysis in 1,012 european ancestry individuals(p-value = 2E-6 ;OR = ?). 0.4 Genome-wide association with select biomarker traits in the Framingham Heart Study. genome-wide association analysis NONHSAT114235.2 lncRNA Atrial natriuretic factor measurement 0.33 TTAAAAGCCA(C > A,T)GACATAGAAC chr6: 106451351 0.3159,.,0.6841 0.28789181957186544,0.00000796381243628,0.71210021661569826 Region score:0.29; TSS score:0.31; Unmatched score:0.3; Average GERP:0.2695462376237624 GeneName:AL109920.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000282408; TranscriptID:ENST00000632749; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CRYBG1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000112297; TranscriptID:ENST00000633556; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF00019; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000200314; TranscriptID:ENST00000363444; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RNA5SP211; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000202386; TranscriptID:ENST00000365516; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000752 23743675 NONHSAT169371.1 rs7144649 ? N/A 2,322 european ancestry individuals from 118 families//2,593 european ancestry individuals; EFO_0003829 N/A Associate Alcohol consumption rs7144649-? of NONHSAT169371.1 is significantly associated with the alcohol consumption by using GWAS analysis in 2,322 european ancestry individuals from 118 families//2,593 european ancestry individuals; (p-value = 4E-6 ;OR = 0.09). 0.4 A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks. genome-wide association analysis NONHSAT169371.1 lncRNA Alcohol dependence 0.33 CTACCTCTGC(G > A)CATGATCATC chr14: 57355498 0.4651,0.5349 0.41482702599388379,0.58517297400611620 Region score:0.39; TSS score:0.16; Unmatched score:0.45; Average GERP:-0.14136990099009908 GeneName:AL355834.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000259008; TranscriptID:ENST00000556602; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000753 28240269 NONHSAT191763.1 rs990529 G N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0008326 N/A Associate Blood protein levels rs990529-G of NONHSAT191763.1 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 2E-15 ;OR = 0.3289). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. genome-wide association analysis NONHSAT191763.1 lncRNA A disintegrin and metalloproteinase with thrombospondin motifs 5 measurement 0.33 AGAAGGCACA(G > A,C)TCTCCCTTGC chr21: 26974227 0.5369,.,0.4631 0.44054217635066258,0.00000796381243628,0.55944985983690112 Region score:0.33; TSS score:0.33; Unmatched score:0.15; Average GERP:-0.7891949504950495 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000754 28552477 NONHSAT149925.1 rs77141833 C N/A 374 cases Orphanet_232 N/A Associate Red blood cell density in sickle cell anemia rs77141833-C of NONHSAT149925.1 is significantly associated with the red blood cell density in sickle cell anemia by using GWAS analysis in 374 cases(p-value = 2E-6 ;OR = 1.12). 0.4 Genome-wide association study of erythrocyte density in sickle cell disease patients. genome-wide association analysis NONHSAT149925.1 lncRNA Sickle cell anemia 0.33 TCTCTCTCTT(T > C)CTCACCTCCT chr1: 159855400 0.9854,0.01458 0.98404051987767584,0.01595948012232415 Region score:0.46; TSS score:0.54; Unmatched score:0.95; Average GERP:-0.3196556435643566 GeneName:AL590560.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000256029; TranscriptID:ENST00000536779; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AL590560.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000272668; TranscriptID:ENST00000608430; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000014460; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF00570; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000212161; TranscriptID:ENST00000390859; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNHG28; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000188004; TranscriptID:ENST00000644477; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:VSIG8; CADD-Score:2; Consquence:intron; GeneID:ENSG00000243284; TranscriptID:ENST00000368100; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000755 28135244 NONHSAT191029.1 rs79094191 T N/A 140,886 european ancestry individuals; 190,318 european ancestry individuals EFO_0006336 N/A Associate Diastolic blood pressure rs79094191-T of NONHSAT191029.1 is significantly associated with the diastolic blood pressure by using GWAS analysis in 140,886 european ancestry individuals; 190,318 european ancestry individuals(p-value = 4E-13 ;OR = 0.564). 0.4 Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk. genome-wide association analysis NONHSAT191029.1 lncRNA Diastolic blood pressure 0.33 CAGCCTGAGC(T > C)TCCACACTTT chr21: 43301010 0.9675,0.03255 0.96466456422018348,0.03533543577981651 Region score:0.35; TSS score:0.39; Unmatched score:0.22; Average GERP:-0.9947648514851484 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000664257; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000756 23251661 NONHSAT172428.1 rs17612678 G N/A 815 hispanic children from 263 families EFO_0004818 N/A Associate Obesity-related traits rs17612678-G of NONHSAT172428.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 5E-6 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. genome-wide association analysis NONHSAT172428.1 lncRNA Transforming growth factor beta measurement 0.33 TCACAGGGGT(T > C)TGAATTTAGG chr15: 93271900 0.8227,0.1773 0.73213716870540265,0.26786283129459734 Region score:0.27; TSS score:0.31; Unmatched score:0.09; Average GERP:0.004682178217821747 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000757 19043545 NONHSAT197564.1 rs1382269 ? N/A 284 european ancestry male individuals EFO_0004622 N/A Associate Metabolite levels rs1382269-? of NONHSAT197564.1 is significantly associated with the metabolite levels by using GWAS analysis in 284 european ancestry male individuals(p-value = 5E-7 ;OR = ?). 0.4 Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum. genome-wide association analysis NONHSAT197564.1 lncRNA Sphingolipid measurement 0.33 TGGGTTCAGA(T > C)ATAGCCAACC chr3: 137389640 0.6713,0.3287 0.60337824923547400,0.39662175076452599 Region score:0.37; TSS score:0.14; Unmatched score:0.03; Average GERP:-0.7149855445544554 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000758 29228715 NONHSAT128590.2 rs12542260 ? N/A 855 austrian ancestry colonoscopy-negative controls//3,439 european ancestry controls NCIT_C16450 N/A Associate Colonoscopy-negative controls vs population controls rs12542260-? of NONHSAT128590.2 is significantly associated with the colonoscopy-negative controls vs population controls by using GWAS analysis in 855 austrian ancestry colonoscopy-negative controls//3,439 european ancestry controls(p-value = 5E-7 ;OR = 1.47). 0.4 Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas. genome-wide association analysis NONHSAT128590.2 lncRNA Colonoscopy 0.33 N/A N/A N/A N/A N/A N/A NCRV0000000759 28928442 NONHSAT067101.2 rs516316 C N/A 31,227 european ancestry cases//54,153 european ancestry controls EFO_0008404 N/A Associate Mumps rs516316-C of NONHSAT067101.2 is significantly associated with the mumps by using GWAS analysis in 31,227 european ancestry cases//54,153 european ancestry controls(p-value = 1E-71 ;OR = 1.25). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. genome-wide association analysis NONHSAT067101.2 lncRNA Susceptibility to mumps measurement 0.33 CCACCGCATG(G > C)CCACGTTCAC chr19: 48702888 0.6785,0.3215 0.56141692150866462,0.43858307849133537 Region score:0.17; TSS score:0.2; Unmatched score:0.19; Average GERP:-2.229832574257426 GeneName:FUT2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000176920; TranscriptID:ENST00000425340; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000760 20834067 NONHSAT169881.1 rs7493138 ? N/A 1,173 individuals EFO_0004300 N/A Associate Longevity rs7493138-? of NONHSAT169881.1 is significantly associated with the longevity by using GWAS analysis in 1,173 individuals(p-value = 1E-6 ;OR = ?). 0.4 Joint influence of small-effect genetic variants on human longevity. genome-wide association analysis NONHSAT169881.1 lncRNA Longevity 0.33 TATTACTAAC(C > T)TCACTCACCG chr14: 28552722 0.7071,0.2929 0.63307530581039755,0.36692469418960244 Region score:0.3; TSS score:0.2; Unmatched score:0.01; Average GERP:-0.040820792079207996 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000761 23555923 hsa-mir-100 rs1834306 T N/a 191 patients with tnbc and 192 healthy female controls EFO_0005537 N/A No significance for risk Triple-negative breast cancer rs1834306-T of hsa-mir-100 and its dysfunction is not significantly associated with Triple-negative breast cancer by using case-control analysis in 191 patients with TNBC and 192 healthy female controls. -0.4 There is no association between microRNA gene polymorphisms and risk of triple negative breast cancer in a Chinese Han population. case-control analysis hsa-mir-100 miRNA Triple-negative breast cancer -0.33 GTTCTCCCCA(A > G)CGTGCTTCCC chr11: 122152479 0.5471,0.4529 0.52398700305810397,0.47601299694189602 Region score:0.42; TSS score:0.47; Unmatched score:0.58; Average GERP:-2.193261089108911 GeneName:MIR100; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207994; TranscriptID:ENST00000385259; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR100HG; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000255248; TranscriptID:ENST00000534782; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000762 28540026 NONHSAT172389.1 rs35828350 ? N/A up to 6,197 european ancestry asd cases//up to 7,377 european ancestry controls//up to 1,190 asd cases//up to 1,190 controls EFO_0003756 N/A Associate Autism spectrum disorder rs35828350-? of NONHSAT172389.1 is significantly associated with the autism spectrum disorder by using GWAS analysis in up to 6,197 european ancestry asd cases//up to 7,377 european ancestry controls//up to 1,190 asd cases//up to 1,190 controls(p-value = 6E-11 ;OR = 1.0752687). 0.4 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. genome-wide association analysis NONHSAT172389.1 lncRNA Autism spectrum disorder 0.33 AGGCGCAGGC(G > A,C)GGTGGATCAT chr15: 84812610 0.8642,0.1358,. 0.80855791284403669,0.19054217635066258,0.00089991080530071 Region score:0.25; TSS score:0.26; Unmatched score:0.12; Average GERP:-0.18272527472527472 GeneName:ALPK3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000136383; TranscriptID:ENST00000258888; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000763 21181275 mir-146a rs2910164 C N/a 208 han chinese patients with ra and 240 healthy controls EFO_0000685 N/A No significance for risk Rheumatoid arthritis rs2910164-C of mir-146a and its dysfunction is not significantly associated with rheumatoid arthritis by using case-control analysis in 208 Han Chinese patients with RA and 240 healthy controls. -0.4 Association study of single nucleotide polymorphisms in pre-miRNA and rheumatoid arthritis in a Han Chinese population. case-control analysis hsa-mir-146a miRNA Rheumatoid arthritis 0 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 N/A 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000763 23138379 pre-miRNA-146a rs2910164 C N/A 104 patients with RA and 110 healthy individuals EFO_0000685 N/A no significance for risk rheumatoid arthritis rs2910164-C of hsa-mir-146a and its dysfunction is not significantly associated with Rheumatoid arthritis by using case-control analysis in 104 patients with RA and 110 healthy individuals -0.4 Association of pre-miRNA-146a rs2910164 and pre閳ユ唩iRNA-499 rs3746444 polymorphisms and susceptibility to rheumatoid arthritis. case-control analysis hsa-mir-146a miRNA Rheumatoid arthritis 0 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 0 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000763 22019503 mir-146a rs2910164 C N/a 262 patients EFO_0000685 N/A No significance for risk Chronic inflammation in rheumatoid arthritis rs2910164-C of mir-146a and its dysfunction is not significantly associated with chronic inflammation in rheumatoid arthritis by using analysis of sequence variation in 262 patients. -0.4 Association of polymorphisms in pre-miRNA with inflammatory biomarkers in rheumatoid arthritis in the Chinese Han population. analysis of sequence variation hsa-mir-146a miRNA Rheumatoid arthritis 0 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 N/A 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000763 27342690 MIR146A rs2910164 C Dominant 192 RA patients and 278 age-matched healthy controls EFO_0000685 N/A decreasing risk rheumatoid arthritis rs2910164-C of hsa-mir-146a and its dysfunction is significantly associated with the decreasing risk of Rheumatoid arthritis by using case-control analysis in 192 RA patients and 278 age-matched healthy controls 0.4 Polymorphisms in STAT-4, IL-10, PSORS1C1, PTPN2 and MIR146A genes are associated differently with prognostic factors in Italian patients affected by rheumatoid arthritis. case-control analysis hsa-mir-146a miRNA Rheumatoid arthritis 0 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 0 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000763 28083614 miR-146a-3p rs2910164 C N/A 111 patients and 130 healthy individuals EFO_0000685 N/A increasing risk rheumatoid arthritis rs2910164-C of hsa-mir-146a and its dysfunction is significantly associated with the increasing risk of Rheumatoid arthritis by using case-control analysis in 111 patients and 130 healthy individuals 0.4 Significance of Polymorphism and Expression of miR-146a and NFkB1 Genetic Variants in Patients with Rheumatoid Arthritis. case-control analysis hsa-mir-146a miRNA Rheumatoid arthritis 0 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 0 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000763 25630616 miRNA-146a rs2910164 G N/A 1066 cases and 1513 controls EFO_0000685 N/A increasing risk rheumatoid arthritis rs2910164-G of hsa-mir-146a and its dysfunction is significantly associated with the increasing risk of Rheumatoid arthritis by using case-control analysis in 1066 cases and 1513 controls 0.4 Is the microRNA-146a (rs2910164) polymorphism associated with rheumatoid arthritis? Association of microRNA-146a (rs2910164) polymorphism and rheumatoid arthritis could depend on gender. case-control analysis hsa-mir-146a miRNA Rheumatoid arthritis 0 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 0 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000764 27381831 miR-608 rs4919510 C Recessive pre ( n = 113) and post ( n = 122) neo-adjuvant treatment FFPE biopsies in 155 out of 164 eligible patients EFO_1000657 N/A poor prognosis rectum cancer rs4919510-C of hsa-mir-608 and its dysfunction is significantly associated with the poor prognosis of Rectum cancer by using case-control analysis in pre ( n = 113) and post ( n = 122) neo-adjuvant treatment FFPE biopsies in 155 out of 164 eligible patients 0.4 Sequence variation in mature microRNA-608 and benefit from neo-adjuvant treatment in locally advanced rectal cancer patients. case-control analysis hsa-mir-608 miRNA Rectum cancer 0.33 TGGGACAGCT(C > G)CGTTTAAAAA chr10: 100975021 0.6362,0.3638 0.70305332568807339,0.29694667431192660 Region score:0.54; TSS score:0.1; Unmatched score:0.51; Average GERP:-0.18896138613861369 GeneName:MIR608; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207551; TranscriptID:ENST00000384820; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MRPL43; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000055950; TranscriptID:ENST00000318325; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SEMA4G; CADD-Score:2; Consquence:intron; GeneID:ENSG00000095539; TranscriptID:ENST00000210633; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000765 29213071 NONHSAT017523.2 rs78695585 A N/A 15,997 hispanic/latino individuals EFO_0004278 N/A Associate Qt interval rs78695585-A of NONHSAT017523.2 is significantly associated with the qt interval by using GWAS analysis in 15,997 hispanic/latino individuals(p-value = 3E-9 ;OR = 3.48). 0.4 GWAS of the electrocardiographic QT interval in Hispanics/Latinos generalizes previously identified loci and identifies population-specific signals. genome-wide association analysis NONHSAT017523.2 lncRNA Sudden cardiac arrest 0.33 AGCACTGTGA(G > A,C)AACGGACTAA chr11: 2623314 0.9718,0.02815,. 0.99059473751274209,0.00938933486238532,0.00001592762487257 Region score:0.43; TSS score:0.2; Unmatched score:0.12; Average GERP:0.11159405940594076 GeneName:KCNQ1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000053918; TranscriptID:ENST00000155840; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:KCNQ1OT1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000269821; TranscriptID:ENST00000597346; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000766 25918132 NONHSAT191959.1 rs10048897 G N/A 74 european ancestry cases//824 european ancestry controls EFO_0000270 N/A Associate Diisocyanate-induced asthma rs10048897-G of NONHSAT191959.1 is significantly associated with the diisocyanate-induced asthma by using GWAS analysis in 74 european ancestry cases//824 european ancestry controls(p-value = 1E-6 ;OR = 34.08). 0.4 Genome-Wide Association Study Identifies Novel Loci Associated With Diisocyanate-Induced Occupational Asthma. genome-wide association analysis NONHSAT191959.1 lncRNA Asthma 0.33 TCTGGAATAG(T > C)CTGGGATGGT chr22: 17777938 0.896,0.104 0.89895514780835881,0.10104485219164118 Region score:0.37; TSS score:0.53; Unmatched score:0.58; Average GERP:-0.36932673267326727 GeneName:BID; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000015475; TranscriptID:ENST00000317361; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LINC00528; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000269220; TranscriptID:ENST00000600723; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000665976; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000767 23955597 NONHSAT186419.1 rs7580717 G N/A 2,335 european ancestry cases//7,306 european ancestry controls; 2,357 european ancestry cases//3,684 european ancestry controls EFO_0001378 N/A Associate Multiple myeloma rs7580717-G of NONHSAT186419.1 is significantly associated with the multiple myeloma by using GWAS analysis in 2,335 european ancestry cases//7,306 european ancestry controls; 2,357 european ancestry cases//3,684 european ancestry controls(p-value = 5E-6 ;OR = 1.131). 0.4 Common variation at 3q26.2, 6p21.33, 17p11.2 and 22q13.1 influences multiple myeloma risk. genome-wide association analysis NONHSAT186419.1 lncRNA Multiple myeloma 0.33 GTTCCTTTCC(G > A,C,T)CAGAGAATCC chr2: 231311828 0.7823,0.2177,.,. 0.71836773700305810,0.28019081294597349,0.00117864424057084,0.00026280581039755 Region score:0.32; TSS score:0.22; Unmatched score:0.19; Average GERP:-0.18973540860215043 GeneName:ARMC9; CADD-Score:2; Consquence:intron; GeneID:ENSG00000135931; TranscriptID:ENST00000611582; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000639648; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000768 28877031 NONHSAT001478.2 rs56318008 T N/A 43,568 european ancestry mothers; 8,643 european ancestry mothers EFO_0005112 N/A Associate Gestational age at birth (maternal effect) rs56318008-T of NONHSAT001478.2 is significantly associated with the gestational age at birth (maternal effect) by using GWAS analysis in 43,568 european ancestry mothers; 8,643 european ancestry mothers(p-value = 3E-14 ;OR = 1.05). 0.4 Genetic Associations with Gestational Duration and Spontaneous Preterm Birth. genome-wide association analysis NONHSAT001478.2 lncRNA Gestational age 0.33 GGGCTTAAGA(C > T)GCTGTGATTG chr1: 22143914 0.7967,0.2033 0.85541698521916411,0.14458301478083588 Region score:0.55; TSS score:0.57; Unmatched score:0.94; Average GERP:-0.5503316831683166 GeneName:AL445253.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000285873; TranscriptID:ENST00000648968; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000002875; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000350213; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:WNT4; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000162552; TranscriptID:ENST00000290167; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000769 27718165 MIR196A2 rs11614913 T N/A 267 Crohn鈥檚 disease patients and 298 matched healthy controls EFO_0000384 N/A no significance for risk Crohn's disease rs11614913-T of hsa-mir-196a-2 and its dysfunction is not significantly associated with Crohn's disease by using case-control analysis in 267 Crohn鈥檚 disease patients and 298 matched healthy controls -0.4 Polymorphisms in MIR122, MIR196A2, and MIR124A Genes are Associated with Clinical Phenotypes in Inflammatory Bowel Diseases. case-control analysis hsa-mir-196a-2 miRNA Crohn's disease -0.33 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000770 25881214 NONHSAT214636.1 rs10232860 G N/A 361 european ancestry cases//160 european ancestry controls EFO_0007051 N/A Associate Vein graft stenosis in coronary artery bypass grafting rs10232860-G of NONHSAT214636.1 is significantly associated with the vein graft stenosis in coronary artery bypass grafting by using GWAS analysis in 361 european ancestry cases//160 european ancestry controls(p-value = 5E-6 ;OR = ?). 0.4 Genetic variants associated with vein graft stenosis after coronary artery bypass grafting. genome-wide association analysis NONHSAT214636.1 lncRNA Vein graft stenosis 0.33 GGGTCTGCAG(T > C)TATAGAAGCC chr7: 48868122 0.8017,0.1983 0.81244425331294597,0.18755574668705402 Region score:0.39; TSS score:0.32; Unmatched score:0.14; Average GERP:-1.4847227722772272 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000771 22010049 NONHSAT148436.1 rs1497406 T N/A 12,526 european ancestry individuals EFO_0004532 N/A Associate Gamma gluatamyl transferase levels rs1497406-T of NONHSAT148436.1 is significantly associated with the gamma gluatamyl transferase levels by using GWAS analysis in 12,526 european ancestry individuals(p-value = 4E-8 ;OR = 0.078). 0.4 Loci affecting gamma-glutamyl transferase in adults and adolescents show age x SNP interaction and cardiometabolic disease associations. genome-wide association analysis NONHSAT148436.1 lncRNA Serum gamma-glutamyl transferase measurement 0.33 CAGGGATTAA(A > G)GGTACTACAG chr1: 16178825 0.5579,0.4421 0.53066067787971457,0.46933932212028542 Region score:0.49; TSS score:0.64; Unmatched score:0.49; Average GERP:0.1403396039603961 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000002026; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000772 28159929 PRNCR1 rs13252298 G Dominant several case-control studies EFO_0000311 N/A decreasing risk cancer rs13252298-G of PRNCR1 and its dysfunction is significantly associated with the decreasing risk of Cancer by using meta-analysis in several case-control studies 0.4 The HOTAIR, PRNCR1 and POLR2E polymorphisms are associated with cancer risk: a meta-analysis. meta-analysis PRNCR1 lncRNA Cancer 0.33 CAGATACAAT(A > G)TCAGAAACTT chr8: 127082911 0.7075,0.2925 0.76690717380224260,0.23309282619775739 Region score:0.29; TSS score:0.32; Unmatched score:0.47; Average GERP:-0.5908851485148515 GeneName:AC020688.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000224722; TranscriptID:ENST00000519282; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CASC19; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000254166; TranscriptID:ENST00000523510; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PCAT1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000253438; TranscriptID:ENST00000646670; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PRNCR1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000282961; TranscriptID:ENST00000635449; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000773 26634245 NONHSAT034223.2 rs148788110 C N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio rs148788110-C of NONHSAT034223.2 is significantly associated with the post bronchodilator fev1/fvc ratio by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 2E-7 ;OR = 0.086). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT034223.2 lncRNA Pulmonary function measurement 0.33 ATACTCTTTA(G > C)CTAAATCTCT chr13: 67792069 0.998,0.001997 0.99773031345565749,0.00226968654434250 Region score:0.24; TSS score:0.17; Unmatched score:0; Average GERP:-0.5292366336633664 GeneName:BCRP9; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000271287; TranscriptID:ENST00000605312; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000774 21738484 NONHSAT171766.1 rs1038094 G N/A 1,190 european and unknown ancestry cases//401 european and unknown ancestry controls; 16,179 individuals EFO_0000289 N/A Associate Bipolar disorder rs1038094-G of NONHSAT171766.1 is significantly associated with the bipolar disorder by using GWAS analysis in 1,190 european and unknown ancestry cases//401 european and unknown ancestry controls; 16,179 individuals(p-value = 9E-6 ;OR = 1.27). 0.4 Genome-wide association of bipolar disorder suggests an enrichment of replicable associations in regions near genes. genome-wide association analysis NONHSAT171766.1 lncRNA Bipolar disorder 0.33 TTGCATTGAA(A > G)TCCATGTGCT chr15: 73720096 0.2476,0.7524 0.17948840468909276,0.82051159531090723 Region score:0.38; TSS score:0.43; Unmatched score:0.34; Average GERP:0.07515445544554453 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000521034; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000775 27863252 NONHSAT004977.2 rs663045 C N/A 170,384 european ancestry individuals EFO_0009390 N/A Associate Sum neutrophil eosinophil counts rs663045-C of NONHSAT004977.2 is significantly associated with the sum neutrophil eosinophil counts by using GWAS analysis in 170,384 european ancestry individuals(p-value = 4E-11 ;OR = 0.02372201). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT004977.2 lncRNA Sum of neutrophil and eosinophil counts 0.33 GAGGGAGCTG(G > C)GAGCTGGGTC chr1: 108200437 0.4187,0.5813 0.45580880479102956,0.54419119520897043 Region score:0.42; TSS score:0.43; Unmatched score:0.98; Average GERP:-2.1942909900990104 GeneName:AL359258.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000260879; TranscriptID:ENST00000564063; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AL359258.3; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000280186; TranscriptID:ENST00000622910; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000010962; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000367943; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SLC25A24; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000085491; TranscriptID:ENST00000565488; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000776 26545630 NONHSAT207875.1 rs2502399 ? N/A 521 alzheimer's disease cases//297 controls EFO_0007656 N/A Associate Plasma clusterin levels rs2502399-? of NONHSAT207875.1 is significantly associated with the plasma clusterin levels by using GWAS analysis in 521 alzheimer's disease cases//297 controls(p-value = 5E-6 ;OR = ?). 0.4 A potential endophenotype for Alzheimer's disease: cerebrospinal fluid clusterin. genome-wide association analysis NONHSAT207875.1 lncRNA Plasma clusterin measurement 0.33 TTTATATTTA(C > T)AAAATATCCT chr6: 113138211 0.5667,0.4333 0.56763665902140672,0.43236334097859327 Region score:0.33; TSS score:0.56; Unmatched score:0.23; Average GERP:-1.1933267326732675 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000777 29064472 NONHSAT161756.1 rs2058205 T N/A 114 african ancestry schizophrenia cases//69 african schizo-affective cases//41 african ancestry bipolar disorder cases//76 african ancestry controls//116 european ancestry schizophrenia cases//86 european ancestry schizo-affective cases//165 european ancestry bipolar disorder cases//182 european ancestry controls EFO_0000677 N/A Associate Anti-saccade response rs2058205-T of NONHSAT161756.1 is significantly associated with the anti-saccade response by using GWAS analysis in 114 african ancestry schizophrenia cases//69 african schizo-affective cases//41 african ancestry bipolar disorder cases//76 african ancestry controls//116 european ancestry schizophrenia cases//86 european ancestry schizo-affective cases//165 european ancestry bipolar disorder cases//182 european ancestry controls(p-value = 7E-6 ;OR = ?). 0.4 Genome-wide association studies of smooth pursuit and antisaccade eye movements in psychotic disorders: findings from the B-SNIP study. genome-wide association analysis NONHSAT161756.1 lncRNA Mental or behavioural disorder 0.33 GAAGAATTTT(G > T)TCAAGTGATC chr12: 4814531 0.6919,0.3081 0.71369297910295616,0.28630702089704383 Region score:0.5; TSS score:0.57; Unmatched score:0.8; Average GERP:0.2296800000000002 GeneName:GALNT8; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000130035; TranscriptID:ENST00000433855; AnnoType:3PRIME_UTR; mirSVR-Score:-0.0352; mirSVR-E:-17.09 | GeneName:KCNA6; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000151079; TranscriptID:ENST00000280684; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0352; mirSVR-E:-17.09 | NCRV0000000778 22036096 NONHSAT188617.1 rs1044573 A N/A 3,933 european ancestry cases//8,965 european ancestry controls EFO_0003956 N/A Associate Allergic rhinitis rs1044573-A of NONHSAT188617.1 is significantly associated with the allergic rhinitis by using GWAS analysis in 3,933 european ancestry cases//8,965 european ancestry controls(p-value = 1E-6 ;OR = 1.15). 0.4 A genome-wide meta-analysis of genetic variants associated with allergic rhinitis and grass sensitization and their interaction with birth order. genome-wide association analysis NONHSAT188617.1 lncRNA Seasonal allergic rhinitis 0.33 CCCTTCCTGC(A > G)AGAGTCTGGG chr20: 25226018 0.4429,0.5571 0.49129555300713557,0.50870444699286442 Region score:0.33; TSS score:0.69; Unmatched score:0.74; Average GERP:-1.317194059405941 GeneName:AL035252.3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277938; TranscriptID:ENST00000613361; AnnoType:UPSTREAM; mirSVR-Score:-0.0142; mirSVR-E:-19.88 | GeneName:AL035252.4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000279322; TranscriptID:ENST00000624174; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0142; mirSVR-E:-19.88 | GeneName:ENTPD6; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000197586; TranscriptID:ENST00000376652; AnnoType:3PRIME_UTR; mirSVR-Score:-0.0142; mirSVR-E:-19.88 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000648440; AnnoType:REGULATORY; mirSVR-Score:-0.0142; mirSVR-E:-19.88 | NCRV0000000779 27863252 NONHSAT175429.1 rs56378716 G N/A 169,822 european ancestry individuals EFO_0007987 N/A Associate Granulocyte count rs56378716-G of NONHSAT175429.1 is significantly associated with the granulocyte count by using GWAS analysis in 169,822 european ancestry individuals(p-value = 6E-17 ;OR = 0.1341307). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT175429.1 lncRNA Granulocyte count 0.33 TTGCATGAAC(A > G)TGAGTGAGCG chr17: 58279141 0.9952,0.004792 0.99255383537206931,0.00744616462793068 Region score:0.5; TSS score:0.49; Unmatched score:0.76; Average GERP:2.4658316831683167 GeneName:MPO; CADD-Score:7; Consquence:missense; GeneID:ENSG00000005381; TranscriptID:ENST00000225275; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000559774; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000780 20694148 NONHSAT190959.1 rs2835810 ? N/A 2,554 indian asian ancestry individuals; 2,240 indian asian ancestry individuals EFO_0000195 N/A Associate Metabolic syndrome rs2835810-? of NONHSAT190959.1 is significantly associated with the metabolic syndrome by using GWAS analysis in 2,554 indian asian ancestry individuals; 2,240 indian asian ancestry individuals(p-value = 6E-6 ;OR = ?). 0.4 A genome-wide association study of the metabolic syndrome in Indian Asian men. genome-wide association analysis NONHSAT190959.1 lncRNA Metabolic syndrome 0.33 TCACAGAGCT(T > C)ACTGCTGTCT chr21: 37560476 0.3203,0.6797 0.29941545616717635,0.70058454383282364 Region score:0.4; TSS score:0.3; Unmatched score:0.07; Average GERP:-0.4891702970297027 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000781 23251661 NONHSAT214837.1 rs10487245 A N/A 815 hispanic children from 263 families EFO_0004735 N/A Associate Obesity-related traits rs10487245-A of NONHSAT214837.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 2E-6 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. genome-wide association analysis NONHSAT214837.1 lncRNA Serum alanine aminotransferase measurement 0.33 AACTGCTGTG(G > A)TGGATAAAGA chr7: 94084209 0.8818,0.1182 0.90933199541284403,0.09066800458715596 Region score:0.44; TSS score:0.32; Unmatched score:0.28; Average GERP:1.2140990099009903 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000782 28181414 miR-149 rs2292832 C Recessive 124 patients with comorbid AR and asthma (AR-A) and 206 healthy Chinese children as controls EFO_0000270 N/A increasing risk asthma rs2292832-C of hsa-mir-149 and its dysfunction is significantly associated with the increasing risk of Asthma by using case-control analysis in 124 patients with comorbid AR and asthma (AR-A) and 206 healthy Chinese children as controls 0.9 A functional variant of miRNA-149 confers risk for allergic rhinitis and comorbid asthma in Chinese children. case-control analysis hsa-mir-149 miRNA Asthma 0.593 CTGGGGCAGC(T > A,C)GGAACAACGC chr2: 240456086 0.3866,.,0.6134 0.31987449031600407,0.00025484199796126,0.67987066768603465 Region score:0.3; TSS score:0.39; Unmatched score:0.89; Average GERP:1.5002722772277222 GeneName:AC110619.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000218416; TranscriptID:ENST00000404891; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GPC1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000063660; TranscriptID:ENST00000264039; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR149; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207611; TranscriptID:ENST00000384879; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000133146; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000783 27622933 NONHSAT215093.1 rs2402960 ? N/A 7,795 european ancestry responder cases//191,173 european ancestry healthy controls EFO_0003761 N/A Associate Response to antidepressants and depression rs2402960-? of NONHSAT215093.1 is significantly associated with the response to antidepressants and depression by using GWAS analysis in 7,795 european ancestry responder cases//191,173 european ancestry healthy controls(p-value = 8E-7 ;OR = 1.098901). 0.4 Analysis of 23andMe antidepressant efficacy survey data: implication of circadian rhythm and neuroplasticity in bupropion response. genome-wide association analysis NONHSAT215093.1 lncRNA Unipolar depression 0.33 CACCACAGCA(C > T)GGGTGCCCTC chr7: 129765934 0.2638,0.7362 0.28230122324159021,0.71769877675840978 Region score:0.22; TSS score:0.18; Unmatched score:0.13; Average GERP:-0.5285662376237624 GeneName:MIR182; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207990; TranscriptID:ENST00000385255; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000784 29049738 miR-138-3p rs3217992 T N/A IOP (n = 37,930 individuals), VCDR (n = 23,899 individuals), cup area (n = 22,489 individuals), and disc area (n = 22,504 individuals). EFO_0004190 N/A increasing risk open-angle glaucoma rs3217992-T of hsa-mir-138-1 and its dysfunction is significantly associated with the increasing risk of Open-angle glaucoma by using case-control analysis in IOP (n = 37,930 individuals), VCDR (n = 23,899 individuals), cup area (n = 22,489 individuals), and disc area (n = 22,504 individuals). 0.9 A Genome-Wide Scan for MicroRNA-Related Genetic Variants Associated With Primary Open-Angle Glaucoma. case-control analysis hsa-mir-138-1 miRNA Open-angle glaucoma 0.593 GTTACTATTT(C > T)AATACAACCA chr9: 22003224 0.6518,0.3482 0.68169438073394495,0.31830561926605504 Region score:0.31; TSS score:0.58; Unmatched score:0.6; Average GERP:0.09521069306930703 GeneName:AL359922.1; CADD-Score:2; Consquence:intron,NMD; GeneID:ENSG00000264545; TranscriptID:ENST00000404796; AnnoType:INTRONIC; mirSVR-Score:-0.8842; mirSVR-E:-7.50 | GeneName:CDKN2B-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000240498; TranscriptID:ENST00000428597; AnnoType:INTRONIC; mirSVR-Score:-0.8842; mirSVR-E:-7.50 | GeneName:CDKN2B; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000147883; TranscriptID:ENST00000276925; AnnoType:3PRIME_UTR; mirSVR-Score:-0.8842; mirSVR-E:-7.50 | NCRV0000000785 24681820 miR-149 rs2292832 C Dominant 355 cases and 362 controls in discovery set, meanwhile 647 cases and 660 controls in validation set, as well as RCC survival in 311 patients EFO_0000681 N/A increasing risk renal cell carcinoma rs2292832-C of hsa-mir-149 and its dysfunction is significantly associated with the increasing risk of Renal cell carcinoma by using case-control analysis in 355 cases and 362 controls in discovery set, meanwhile 647 cases and 660 controls in validation set, as well as RCC survival in 311 patients 0.4 Genetic variations in microRNAs and the risk and survival of renal cell cancer. case-control analysis hsa-mir-149 miRNA Renal cell carcinoma 0.33 CTGGGGCAGC(T > A,C)GGAACAACGC chr2: 240456086 0.3866,.,0.6134 0.31987449031600407,0.00025484199796126,0.67987066768603465 Region score:0.3; TSS score:0.39; Unmatched score:0.89; Average GERP:1.5002722772277222 GeneName:AC110619.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000218416; TranscriptID:ENST00000404891; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GPC1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000063660; TranscriptID:ENST00000264039; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR149; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207611; TranscriptID:ENST00000384879; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000133146; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000786 27863252 NONHSAT180208.1 rs143558304 TA N/A 164,339 european ancestry individuals EFO_0007985 N/A Associate Plateletcrit rs143558304-TA of NONHSAT180208.1 is significantly associated with the plateletcrit by using GWAS analysis in 164,339 european ancestry individuals(p-value = 7E-22 ;OR = 0.1365312). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT180208.1 lncRNA Plateletcrit 0.33 ACCCAGGAAA(T > TA)ACACTAGCAA chr19: 16102887 0.9675,0.03255 0.95999777013251783,0.04000222986748216 N/A GeneName:AC008894.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000267373; TranscriptID:ENST00000587693; AnnoType:DOWNSTREAM; mirSVR-Score:-0.8771; mirSVR-E:-14.70 | GeneName:TPM4; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000167460; TranscriptID:ENST00000646974; AnnoType:3PRIME_UTR; mirSVR-Score:-0.8771; mirSVR-E:-14.70 | NCRV0000000787 23555923 hsa-mir-26a-1 rs7372209 T N/A 191 patients with TNBC and 192 healthy female controls EFO_0005537 N/A no significance for risk triple-negative breast cancer rs7372209-T of hsa-mir-26a-1 and its dysfunction is not significantly associated with Triple-negative breast cancer by using case-control analysis in 191 patients with TNBC and 192 healthy female controls -0.4 There is no association between microRNA gene polymorphisms and risk of triple negative breast cancer in a Chinese Han population. case-control analysis hsa-mir-26a-1 miRNA Triple-negative breast cancer -0.33 ATTAATCCTT(T > C)GTACCACGTG chr3: 37969217 0.2015,0.7985 0.21918800968399592,0.78081199031600407 Region score:0.25; TSS score:0.19; Unmatched score:0.58; Average GERP:0.42166831683168315 GeneName:CTDSPL; CADD-Score:2; Consquence:intron; GeneID:ENSG00000144677; TranscriptID:ENST00000273179; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR26A1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000199075; TranscriptID:ENST00000362205; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000682913; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000788 28898252 NONHSAT206981.1 rs198846 G N/A 88,355 european ancestry individuals,18,472 east asian ancestry individuals//7,572 south asian ancestry individuals//7,564 african american individuals; 33,238 european ancestry individuals// 2,366 east asian ancestry individuals//1,302 south asian ancestry individuals EFO_0001360 N/A Associate Glycated hemoglobin levels rs198846-G of NONHSAT206981.1 is significantly associated with the glycated hemoglobin levels by using GWAS analysis in 88,355 european ancestry individuals,18,472 east asian ancestry individuals//7,572 south asian ancestry individuals//7,564 african american individuals; 33,238 european ancestry individuals// 2,366 east asian ancestry individuals//1,302 south asian ancestry individuals(p-value = 1E-23 ;OR = 0.0218). 0.4 Impact of common genetic determinants of Hemoglobin A1c on type 2 diabetes risk and diagnosis in ancestrally diverse populations: A transethnic genome-wide meta-analysis. genome-wide association analysis NONHSAT206981.1 lncRNA Type ii diabetes mellitus 0.33 GTGGCCGGGG(A > G,T)AATGAGGACC chr6: 26107235 0.1072,0.8928,. 0.12598751274209989,0.86556288226299694,0.00844960499490316 Region score:0.31; TSS score:0.11; Unmatched score:0.15; Average GERP:0.041252475247524754 GeneName:HIST1H1T; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000187475; TranscriptID:ENST00000338379; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HIST1H4C; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000197061; TranscriptID:ENST00000377803; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000789 23725790 NONHSAT080583.2 rs965808 G N/A 256 european ancestry individuals; 384 european ancestry individuals GO_0006306 N/A Associate Dna methylation (variation) rs965808-G of NONHSAT080583.2 is significantly associated with the dna methylation (variation) by using GWAS analysis in 256 european ancestry individuals; 384 european ancestry individuals(p-value = 5E-9 ;OR = ?). 0.4 GWAS of DNA methylation variation within imprinting control regions suggests parent-of-origin association. genome-wide association analysis NONHSAT080583.2 lncRNA Dna methylation 0.33 GATGGGGAAG(C > A,G,T)GGGGGTCCAG chr20: 58833371 0.274,0.726,.,. 0.25466679408766564,0.74433772935779816,0.00092380224260958,0.00007167431192660 Region score:0.45; TSS score:0.33; Unmatched score:0.22; Average GERP:-1.039189108910891 GeneName:AL132655.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000268333; TranscriptID:ENST00000601795; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GNAS-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000235590; TranscriptID:ENST00000443966; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000790 25188341 NONHSAT172679.1 rs11075138 G N/A 1,673 cases//1,134 controls EFO_0000249 N/A Associate Cerebral amyloid angiopathy rs11075138-G of NONHSAT172679.1 is significantly associated with the cerebral amyloid angiopathy by using GWAS analysis in 1,673 cases//1,134 controls(p-value = 8E-6 ;OR = 0.5115). 0.4 Genome-wide association meta-analysis of neuropathologic features of Alzheimer's disease and related dementias. genome-wide association analysis NONHSAT172679.1 lncRNA Alzheimers disease 0.33 CAGGCGTAGT(A > C,G)GCTCACACCT chr16: 12629954 0.3065,.,0.6935 0.31997801987767584,0.00000796381243628,0.68001401630988786 Region score:0.18; TSS score:0.1; Unmatched score:0.04; Average GERP:0.022784999999999993 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000791 27863252 NONHSAT168300.1 rs8020739 T N/A 170,536 european ancestry individuals EFO_0007996 N/A Associate Eosinophil percentage of granulocytes rs8020739-T of NONHSAT168300.1 is significantly associated with the eosinophil percentage of granulocytes by using GWAS analysis in 170,536 european ancestry individuals(p-value = 1E-10 ;OR = 0.02412099). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT168300.1 lncRNA Eosinophil percentage of granulocytes 0.33 GGCAGGAGGA(G > T)GGGAGTCACA chr14: 35413286 0.2913,0.7087 0.32963812436289500,0.67036187563710499 Region score:0.4; TSS score:0.46; Unmatched score:0.59; Average GERP:-1.0199084158415843 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000494827; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000792 22542470 NONHSAT076965.2 rs359965 ? N/A 217 african american individuals//580 european ancestry individuals//217 hispanic individuals EFO_0004645 N/A Associate Immune response to smallpox vaccine (il-6) rs359965-? of NONHSAT076965.2 is significantly associated with the immune response to smallpox vaccine (il-6) by using GWAS analysis in 217 african american individuals//580 european ancestry individuals//217 hispanic individuals(p-value = 2E-6 ;OR = ?). 0.4 Genome-wide association study of antibody response to smallpox vaccine. genome-wide association analysis NONHSAT076965.2 lncRNA Response to vaccine 0.33 AGGAAAGGTG(G > A)AGGCCAGAAG chr2: 218976169 0.8848,0.1152 0.94349675076452599,0.05650324923547400 Region score:0.47; TSS score:0.41; Unmatched score:0.54; Average GERP:-0.18598910891089107 GeneName:FEV; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000163497; TranscriptID:ENST00000295727; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LINC00608; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000236445; TranscriptID:ENST00000432733; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000793 27863252 NONHSAT145456.2 rs377079849 C N/A 170,384 european ancestry individuals EFO_0009390 N/A Associate Sum neutrophil eosinophil counts rs377079849-C of NONHSAT145456.2 is significantly associated with the sum neutrophil eosinophil counts by using GWAS analysis in 170,384 european ancestry individuals(p-value = 2E-9 ;OR = 0.02337324). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT145456.2 lncRNA Sum of neutrophil and eosinophil counts 0.33 TATATATATA(CAT > C)ATATATATAT chr17: 7884457 0.5206,0.4794 0.54670775993883792,0.45329224006116207 N/A GeneName:CHD3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000170004; TranscriptID:ENST00000380358; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NAA38; CADD-Score:2; Consquence:intron; GeneID:ENSG00000183011; TranscriptID:ENST00000576861; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000090915; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000794 27863252 NONHSAT176938.1 rs12453682 T N/A 172,332 european ancestry individuals EFO_0004527 N/A Associate Mean corpuscular hemoglobin rs12453682-T of NONHSAT176938.1 is significantly associated with the mean corpuscular hemoglobin by using GWAS analysis in 172,332 european ancestry individuals(p-value = 3E-10 ;OR = 0.02448577). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT176938.1 lncRNA Mean corpuscular hemoglobin 0.33 CAAAGTAGGG(C > G,T)GAGGAGGCTG chr17: 39613752 0.5186,.,0.4814 0.45905007645259938,0.02397903924566768,0.51697088430173292 Region score:0.4; TSS score:0.54; Unmatched score:0.38; Average GERP:-0.62824099009901 GeneName:NEUROD2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000171532; TranscriptID:ENST00000580874; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000795 27863252 NONHSAT176938.1 rs12453682 T N/A 172,952 european ancestry individuals EFO_0004305 N/A Associate Red blood cell count rs12453682-T of NONHSAT176938.1 is significantly associated with the red blood cell count by using GWAS analysis in 172,952 european ancestry individuals(p-value = 2E-14 ;OR = 0.02985445). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT176938.1 lncRNA Erythrocyte count 0.33 CAAAGTAGGG(C > G,T)GAGGAGGCTG chr17: 39613752 0.5186,.,0.4814 0.45905007645259938,0.02397903924566768,0.51697088430173292 Region score:0.4; TSS score:0.54; Unmatched score:0.38; Average GERP:-0.62824099009901 GeneName:NEUROD2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000171532; TranscriptID:ENST00000580874; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000796 23793025 NONHSAT123567.2 rs1364402 ? N/A 5,118 european ancestry cases//74,239 european ancestry controls EFO_0003821 N/A Associate Migraine with aura rs1364402-? of NONHSAT123567.2 is significantly associated with the migraine with aura by using GWAS analysis in 5,118 european ancestry cases//74,239 european ancestry controls(p-value = 4E-6 ;OR = 1.19). 0.4 Genome-wide meta-analysis identifies new susceptibility loci for migraine. genome-wide association analysis NONHSAT123567.2 lncRNA Migraine disorder 0.33 TAAGGAGGCA(T > C)TAATAGAAGA chr7: 136899616 0.8898,0.1102 0.85702567533129459,0.14297432466870540 Region score:0.4; TSS score:0.26; Unmatched score:0.53; Average GERP:-0.44462574257425724 GeneName:AC009264.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000234352; TranscriptID:ENST00000439694; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CHRM2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000181072; TranscriptID:ENST00000445907; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR490; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207597; TranscriptID:ENST00000384865; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000797 27005778 NONHSAT179793.1 rs7412 T N/A 2,118 erasmus rucphen (founder/genetic isolate)//22,807 european ancestry individuals EFO_0004732 N/A Associate Metabolite levels (lipoprotein measures) rs7412-T of NONHSAT179793.1 is significantly associated with the metabolite levels (lipoprotein measures) by using GWAS analysis in 2,118 erasmus rucphen (founder/genetic isolate)//22,807 european ancestry individuals(p-value = 2E-120 ;OR = 0.59). 0.4 Genome-wide study for circulating metabolites identifies 62 loci and reveals novel systemic effects of LPA. genome-wide association analysis NONHSAT179793.1 lncRNA Lipoprotein measurement 0.33 CCTGCAGAAG(C > T)GCCTGGCAGT chr19: 44908822 0.9249,0.07508 0.91786123853211009,0.08213876146788990 Region score:0.36; TSS score:0.39; Unmatched score:0.61; Average GERP:1.2422673267326734 GeneName:AC011481.3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000280087; TranscriptID:ENST00000623895; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:APOE; CADD-Score:7; Consquence:missense; GeneID:ENSG00000130203; TranscriptID:ENST00000252486; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000798 26632684 NONHSAT030391.2 rs3751196 A N/A 6,252 european ancestry individuals GO_0007608 N/A Associate Sense of smell rs3751196-A of NONHSAT030391.2 is significantly associated with the sense of smell by using GWAS analysis in 6,252 european ancestry individuals(p-value = 2E-7 ;OR = 0.07). 0.4 Genome-wide Meta-analysis on the Sense of Smell Among US Older Adults. genome-wide association analysis NONHSAT030391.2 lncRNA N/a 0.33 TAGAATGTAT(G > A)TCAGGTAACA chr12: 103763724 0.8261,0.1739 0.88599006116207951,0.11400993883792048 Region score:0.34; TSS score:0.22; Unmatched score:0.39; Average GERP:-1.2245504950495045 GeneName:AC025265.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000257681; TranscriptID:ENST00000550029; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000468012; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:STAB2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000136011; TranscriptID:ENST00000388887; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000799 26007630 NONHSAT208975.1 rs6919908 T N/A 2,194 european ancestry cases//222,555 european ancestry controls; 586 european ancestry cases//2,111 european ancestry controls EFO_0001378 N/A Associate Multiple myeloma rs6919908-T of NONHSAT208975.1 is significantly associated with the multiple myeloma by using GWAS analysis in 2,194 european ancestry cases//222,555 european ancestry controls; 586 european ancestry cases//2,111 european ancestry controls(p-value = 4E-10 ;OR = 0.25). 0.4 Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma. genome-wide association analysis NONHSAT208975.1 lncRNA Multiple myeloma 0.33 CATACATCTG(T > C)GACAGGGGAT chr6: 31277183 0.1466,0.8534 0.17508441641182466,0.82491558358817533 Region score:0.27; TSS score:0.41; Unmatched score:0.46; Average GERP:0.05903947368421048 GeneName:HLA-B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000234745; TranscriptID:ENST00000640615; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RPL3P2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000227939; TranscriptID:ENST00000413027; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:USP8P1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000214892; TranscriptID:ENST00000494673; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000800 28928442 NONHSAT207237.1 rs4714291 ? N/A 52,487 european ancestry cases//22,017 european ancestry controls EFO_0008408 N/A Associate Strep throat rs4714291-? of NONHSAT207237.1 is significantly associated with the strep throat by using GWAS analysis in 52,487 european ancestry cases//22,017 european ancestry controls(p-value = 1E-6 ;OR = 0.0295). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. genome-wide association analysis NONHSAT207237.1 lncRNA Susceptibility to strep throat measurement 0.33 CAATTCTGGA(G > A)CTGAGAAGTC chr6: 40035893 0.5811,0.4189 0.65308040265035677,0.34691959734964322 Region score:0.33; TSS score:0.2; Unmatched score:0.04; Average GERP:-0.18507128712871287 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000801 19214202 ANRIL rs2891168 ? recessive 151 Generalized AgP, 137 Localized AgP, and 1104 controls EFO_0006342 N/A increasing risk aggressive periodontitis rs2891168-? of ANRIL and its dysfunction is significantly associated with the increasing risk of Aggressive periodontitis by using case-control analysis in 151 Generalized AgP, 137 Localized AgP, and 1104 controls 0.4 Identification of a shared genetic susceptibility locus for coronary heart disease and periodontitis. case-control analysis ANRIL lncRNA Aggressive periodontitis 0.33 TGTTTGGAAC(A > G)CCAACTCTGT chr9: 22098620 0.597,0.403 0.59632231141692150,0.40367768858307849 Region score:0.36; TSS score:0.52; Unmatched score:0.27; Average GERP:-0.6553643564356437 GeneName:CDKN2B-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000240498; TranscriptID:ENST00000428597; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000877595; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000802 29059683 NONHSAT206998.1 rs71557345 A N/A 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls EFO_0000305 N/A Associate Breast cancer rs71557345-A of NONHSAT206998.1 is significantly associated with the breast cancer by using GWAS analysis in 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls(p-value = 4E-10 ;OR = 1.0869565). 0.4 Association analysis identifies 65 new breast cancer risk loci. genome-wide association analysis NONHSAT206998.1 lncRNA Breast cancer 0.33 GGAGAGAAAC(G > A)ATCTTGTTGG chr6: 26680470 N/A 1 Region score:0.45; TSS score:0.22; Unmatched score:0.25; Average GERP:0.010415841584158456 GeneName:AL513548.4; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000285571; TranscriptID:ENST00000647995; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000786602; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000803 28472463 NONHSAT192010.1 rs202240051 C N/A 1,268 whole genome sequenced european ancestry women//8,880 european ancestry women//6,479 european ancestry men EFO_0004514 N/A Associate Bone ultrasound measurement (broadband ultrasound attenuation) rs202240051-C of NONHSAT192010.1 is significantly associated with the bone ultrasound measurement (broadband ultrasound attenuation) by using GWAS analysis in 1,268 whole genome sequenced european ancestry women//8,880 european ancestry women//6,479 european ancestry men(p-value = 2E-8 ;OR = 0.11). 0.4 Genome-wide association study meta-analysis for quantitative ultrasound parameters of bone identifies five novel loci for broadband ultrasound attenuation. genome-wide association analysis NONHSAT192010.1 lncRNA Bone quantitative ultrasound measurement 0.33 GCTGGCTGAC(CG > C)GGCCCCGTGT chr22: 19690425 0.9587,0.04133 0.92071228338430173,0.07928771661569826 N/A GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000666474; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000804 21909115 NONHSAT189066.1 rs6015450 G N/A 69,395 european ancestry individuals; up to 133,361 european ancestry individuals EFO_0006336 N/A Associate Diastolic blood pressure rs6015450-G of NONHSAT189066.1 is significantly associated with the diastolic blood pressure by using GWAS analysis in 69,395 european ancestry individuals; up to 133,361 european ancestry individuals(p-value = 6E-23 ;OR = 0.557). 0.4 Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. genome-wide association analysis NONHSAT189066.1 lncRNA Diastolic blood pressure 0.451 GGAATGCCTT(A > G)TTATTGCCTC chr20: 59176062 0.9022,0.09784 0.86678930937818552,0.13321069062181447 Region score:0.39; TSS score:0.18; Unmatched score:0.12; Average GERP:-0.6414472277227723 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000656350; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ZNF831; CADD-Score:2; Consquence:intron; GeneID:ENSG00000124203; TranscriptID:ENST00000637017; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000804 28739976 NONHSAT189066.1 rs6015450 G N/A 150,134 european ancestry individuals; 87,359 european ancestry individuals//140,886 european and unknown ancestry individuals EFO_0006336 N/A Associate Diastolic blood pressure rs6015450-G of NONHSAT189066.1 is significantly associated with the diastolic blood pressure by using GWAS analysis in 150,134 european ancestry individuals; 87,359 european ancestry individuals//140,886 european and unknown ancestry individuals(p-value = 2E-15 ;OR = 0.536). 0.4 Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.LID - HYPERTENSIONAHA.117.09438 [pii]LID - 10.1161/HYPERTENSIONAHA.117.09438 [doi]AB - Elevated blood pressure genome-wide association analysis NONHSAT189066.1 lncRNA Diastolic blood pressure 0.451 GGAATGCCTT(A > G)TTATTGCCTC chr20: 59176062 0.9022,0.09784 0.86678930937818552,0.13321069062181447 Region score:0.39; TSS score:0.18; Unmatched score:0.12; Average GERP:-0.6414472277227723 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000656350; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ZNF831; CADD-Score:2; Consquence:intron; GeneID:ENSG00000124203; TranscriptID:ENST00000637017; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000805 27863252 NONHSAT211335.1 rs2451279 G N/A 170,702 european ancestry individuals EFO_0004833 N/A Associate Neutrophil count rs2451279-G of NONHSAT211335.1 is significantly associated with the neutrophil count by using GWAS analysis in 170,702 european ancestry individuals(p-value = 2E-12 ;OR = 0.02636221). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT211335.1 lncRNA Neutrophil count 0.33 CATGGAGAAG(A > G)GCTGGCTCAG chr6: 159094045 0.1889,0.8111 0.26914500509683995,0.73085499490316004 Region score:0.2; TSS score:0.32; Unmatched score:0.32; Average GERP:-1.5931219801980196 GeneName:AL035530.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000226032; TranscriptID:ENST00000645980; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AL356417.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000224478; TranscriptID:ENST00000642586; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AL356417.3; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000285492; TranscriptID:ENST00000642829; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000806 27863252 NONHSAT152395.1 rs1050316 T N/A 166,066 european ancestry individuals EFO_0004309 N/A Associate Platelet count rs1050316-T of NONHSAT152395.1 is significantly associated with the platelet count by using GWAS analysis in 166,066 european ancestry individuals(p-value = 4E-11 ;OR = 0.02540854). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT152395.1 lncRNA Platelet count 0.33 CAGACTAATG(G > T)TGGGAATAGC chr1: 156464911 0.4277,0.5723 0.45537079510703363,0.54462920489296636 Region score:0.48; TSS score:0.76; Unmatched score:0.67; Average GERP:0.20988415841584157 GeneName:MEF2D; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000116604; TranscriptID:ENST00000348159; AnnoType:3PRIME_UTR; mirSVR-Score:-0.1669; mirSVR-E:-18.32 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000373959; AnnoType:REGULATORY; mirSVR-Score:-0.1669; mirSVR-E:-18.32 | NCRV0000000807 22005930 NONHSAT161356.1 rs10792830 ? N/A 1,039 european ancestry cases with psychosis//5,659 european ancestry controls//260 european//african american and native american ancestry cases with psychosis from 264 families EFO_0005407 N/A Associate Psychosis rs10792830-? of NONHSAT161356.1 is significantly associated with the psychosis by using GWAS analysis in 1,039 european ancestry cases with psychosis//5,659 european ancestry controls//260 european//african american and native american ancestry cases with psychosis from 264 families(p-value = 6E-6 ;OR = 1.25). 0.4 Genome-wide association study of Alzheimer's disease with psychotic symptoms. genome-wide association analysis NONHSAT161356.1 lncRNA Psychosis 0.33 ACTTGAATTC(G > A)TATCATTCAA chr11: 86127766 0.4389,0.5611 0.47279561671763506,0.52720438328236493 Region score:0.47; TSS score:0.56; Unmatched score:0.19; Average GERP:1.7289891089108909 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000808 28346442 NONHSAT031256.2 rs7953249 G N/A 22,406 european ancestry cases//40,941 european ancestry controls EFO_0001075 N/A Associate Epithelial ovarian cancer rs7953249-G of NONHSAT031256.2 is significantly associated with the epithelial ovarian cancer by using GWAS analysis in 22,406 european ancestry cases//40,941 european ancestry controls(p-value = 5E-10 ;OR = 1.0834533). 0.4 Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer. genome-wide association analysis NONHSAT031256.2 lncRNA Ovarian cancer 0.33 GATATCTGTC(G > A)ACGGTAAATG chr12: 120965921 0.4311,0.5689 0.40623407237512742,0.59376592762487257 Region score:0.26; TSS score:0.34; Unmatched score:0.36; Average GERP:-0.8084158415841585 GeneName:HNF1A-AS1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000241388; TranscriptID:ENST00000539163; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000472095; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000472096; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000809 27989323 NONHSAT151041.1 rs12735700 G N/A 7,760 finnish ancestry individuals EFO_0005140 N/A Associate Interleukin-17 levels rs12735700-G of NONHSAT151041.1 is significantly associated with the interleukin-17 levels by using GWAS analysis in 7,760 finnish ancestry individuals(p-value = 8E-6 ;OR = 0.0931). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. genome-wide association analysis NONHSAT151041.1 lncRNA Autoimmune disease 0.33 TGGCCAAGGC(G > A,T)GCTTCCCAGG chr1: 5429807 0.8472,.,0.1528 0.76897776503567787,0.00023891437308868,0.23078332059123343 Region score:0.31; TSS score:0.3; Unmatched score:0.16; Average GERP:-0.9197178217821789 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000345592; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000810 24927181 NONHSAT150544.1 rs1159268 A N/A 1,893 european ancestry cases//5,132 european ancestry controls; 2,063 european ancestry cases//1,970 european ancestry controls EFO_0003894 N/A Associate Acne (severe) rs1159268-A of NONHSAT150544.1 is significantly associated with the acne (severe) by using GWAS analysis in 1,893 european ancestry cases//5,132 european ancestry controls; 2,063 european ancestry cases//1,970 european ancestry controls(p-value = 4E-8 ;OR = 1.17). 0.4 Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris. genome-wide association analysis NONHSAT150544.1 lncRNA Acne 0.33 GTAATGCTGT(G > A)CCCACTAAAC chr1: 218671564 0.6591,0.3409 0.66251752038735983,0.33748247961264016 Region score:0.23; TSS score:0.15; Unmatched score:0.16; Average GERP:0.1807306930693069 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000386937; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000811 26305897 NONHSAT155769.1 rs1298908 G N/A 1,564 african american cases//369 african american diabetic controls//1,288 african american non-diabetic controls//538 american indian ancestry cases//319 american indian ancestry diabetic controls//342 european ancestry cases//404 european ancestry diabetic controls//779 mexican ancestry cases//594 mexican ancestry diabetic controls; 950 african american cases//50 african american diabetic controls//1,887 african american non-diabetic controls//471 american indian ancestry cases//340 american indian ancestry diabetic controls//486 american indian ancestry non-diabetic controls//582 european ancestry ancestry cases//205 european ancestry diabetic controls//2,568 european ancestry non-diabetic controls EFO_0000401 N/A Associate Diabetic kidney disease rs1298908-G of NONHSAT155769.1 is significantly associated with the diabetic kidney disease by using GWAS analysis in 1,564 african american cases//369 african american diabetic controls//1,288 african american non-diabetic controls//538 american indian ancestry cases//319 american indian ancestry diabetic controls//342 european ancestry cases//404 european ancestry diabetic controls//779 mexican ancestry cases//594 mexican ancestry diabetic controls; 950 african american cases//50 african american diabetic controls//1,887 african american non-diabetic controls//471 american indian ancestry cases//340 american indian ancestry diabetic controls//486 american indian ancestry non-diabetic controls//582 european ancestry ancestry cases//205 european ancestry diabetic controls//2,568 european ancestry non-diabetic controls(p-value = 9E-7 ;OR = 1.36). 0.4 Genome-Wide Association and Trans-ethnic Meta-Analysis for Advanced Diabetic Kidney Disease: Family Investigation of Nephropathy and Diabetes (FIND). genome-wide association analysis NONHSAT155769.1 lncRNA Diabetic nephropathy 0.33 CTTCAATAAT(C > T)TCCATTTGTG chr10: 80253378 0.4107,0.5893 0.47334511977573904,0.52665488022426095 Region score:0.17; TSS score:0.31; Unmatched score:0.44; Average GERP:0.10232673267326742 GeneName:AL359195.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000279359; TranscriptID:ENST00000623657; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000812 28604730 NONHSAT206787.1 rs654351 G N/A 7,426 european ancestry cases//55,627 european ancestry controls EFO_0000708 N/A Associate Squamous cell lung carcinoma rs654351-G of NONHSAT206787.1 is significantly associated with the squamous cell lung carcinoma by using GWAS analysis in 7,426 european ancestry cases//55,627 european ancestry controls(p-value = 2E-6 ;OR = 1.101157). 0.4 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. genome-wide association analysis NONHSAT206787.1 lncRNA Squamous cell lung cancer 0.33 TCCTCTCTCT(G > C,T)CAGCTTCTCC chr6: 10414773 0.3375,0.6625,. 0.31940462538226299,0.68057944699286442,0.00001592762487257 Region score:0.11; TSS score:0.41; Unmatched score:0.9; Average GERP:0.9495454455445544 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000192992; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TFAP2A-AS1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000229950; TranscriptID:ENST00000420777; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TFAP2A; CADD-Score:2; Consquence:intron; GeneID:ENSG00000137203; TranscriptID:ENST00000482890; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000813 28253859 MALAT1 rs3200401 T Dominant 140 early-staged (stage I and II) and 398 advanced staged (stage III and IV) patients EFO_0003060 N/A better prognosis non-small cell lung carcinoma rs3200401-T of MALAT1 and its dysfunction is significantly associated with the better prognosis of Non-small cell lung carcinoma by using case-control analysis in 140 early-staged (stage I and II) and 398 advanced staged (stage III and IV) patients 0.4 A genetic variant in long non-coding RNA MALAT1 associated with survival outcome among patients with advanced lung adenocarcinoma: a survival cohort analysis. case-control analysis MALAT1 lncRNA Non-small cell lung carcinoma 0.33 GACTTCAGGT(C > T)TGTCTGTTCT chr11: 65504361 0.8568,0.1432 0.81981874362895005,0.18018125637104994 Region score:0.57; TSS score:0.67; Unmatched score:0.79; Average GERP:3.4488239999999992 GeneName:MALAT1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000251562; TranscriptID:ENST00000534336; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0079; mirSVR-E:-14.62 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000432700; AnnoType:REGULATORY; mirSVR-Score:-0.0079; mirSVR-E:-14.62 | GeneName:RF01684; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000274072; TranscriptID:ENST00000611300; AnnoType:UPSTREAM; mirSVR-Score:-0.0079; mirSVR-E:-14.62 | GeneName:RF01871; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000278217; TranscriptID:ENST00000618249; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0079; mirSVR-E:-14.62 | NCRV0000000814 28270201 NONHSAT170981.1 rs751156121 G N/A 19,695 british ancestry individuals from 6863 families. EFO_0007788 N/A Associate Waist-to-hip ratio adjusted for body mass index rs751156121-G of NONHSAT170981.1 is significantly associated with the waist-to-hip ratio adjusted for body mass index by using GWAS analysis in 19,695 british ancestry individuals from 6863 families.(p-value = 1E-8 ;OR = 1.4202151). 0.4 Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants. genome-wide association analysis NONHSAT170981.1 lncRNA Bmi-adjusted waist-hip ratio 0.33 AGATCTTGGA(A > G)ACTGCTGGAG chr15: 70147447 N/A 0.99996018093781855,0.00003981906218144 N/A GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000815 27089181 NONHSAT210582.1 rs9382403 A N/A 298,420 korculan (founder/genetic isolate)//split (founder/genetic isolate)//vis (founder/genetic isolate)//erasmus rucphen (founder/genetic isolate) and other european ancestry individuals EFO_0007869 N/A Associate Subjective well-being rs9382403-A of NONHSAT210582.1 is significantly associated with the subjective well-being by using GWAS analysis in 298,420 korculan (founder/genetic isolate)//split (founder/genetic isolate)//vis (founder/genetic isolate)//erasmus rucphen (founder/genetic isolate) and other european ancestry individuals(p-value = 1E-6 ;OR = 0.0134). 0.4 Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses. genome-wide association analysis NONHSAT210582.1 lncRNA Wellbeing measurement 0.33 TGATACCACC(A > C)TCTGTTCACC chr6: 54960889 0.4886,0.5114 0.57969387104994903,0.42030612895005096 Region score:0.35; TSS score:0.22; Unmatched score:0.09; Average GERP:-0.519779207920792 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000816 24165912 NONHSAT017523.2 rs10832417 T N/A 1,840 han chinese ancestry individuals; 659 han chinese ancestry individuals EFO_0006335 N/A Associate Blood pressure measurement (high sodium intervention) rs10832417-T of NONHSAT017523.2 is significantly associated with the blood pressure measurement (high sodium intervention) by using GWAS analysis in 1,840 han chinese ancestry individuals; 659 han chinese ancestry individuals(p-value = 1E-6 ;OR = 1.3). 0.4 Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese. genome-wide association analysis NONHSAT017523.2 lncRNA Systolic blood pressure 0.33 AAAATGTTTG(T > G)TTTTTTTTTA chr11: 2631427 0.5803,0.4197 0.67533925840978593,0.32466074159021406 Region score:0.32; TSS score:0.11; Unmatched score:0.06; Average GERP:0.1034059405940593 GeneName:KCNQ1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000053918; TranscriptID:ENST00000155840; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:KCNQ1OT1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000269821; TranscriptID:ENST00000597346; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000817 26125831 mir-499 rs3746444 G N/a 321 breast cancer patients and 290 controls in the chinese population EFO_0000305 N/A No significance for risk Breast cancer rs3746444-G of mir-499 and its dysfunction is not significantly associated with breast cancer by using case-control analysis in 321 breast cancer patients and 290 controls in the Chinese population. -0.4 Associations of miRNA polymorphisms and expression levels with breast cancer risk in the Chinese population. case-control analysis hsa-mir-499a miRNA Breast cancer 0.283 CCACGTGAAC(A > G)TCACAGCAAG chr20: 34990448 0.8165,0.1835 0.81708715596330275,0.18291284403669724 Region score:0.79; TSS score:0.85; Unmatched score:0.95; Average GERP:3.757564356435645 GeneName:MIR499A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207635; TranscriptID:ENST00000384903; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR499B; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283441; TranscriptID:ENST00000636498; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYH7B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000078814; TranscriptID:ENST00000262873; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000817 24521023 miR-499 rs3746444 C Dominant 236 patients with breast cancer and 203 healthy individuals. EFO_0000305 N/A Increasing risk Breast cancer rs3746444-C of miR-499 and its dysfunction is significantly associated with the increasing risk of breast cancer by using case-control analysis in 236 patients with breast cancer and 203 healthy individuals 0.4 hsa-mir-499 rs3746444 gene polymorphism is associated with susceptibility to breast cancer in an Iranian population. case-control analysis hsa-mir-499a miRNA Breast cancer 0.283 CCACGTGAAC(A > G)TCACAGCAAG chr20: 34990448 0.8165,0.1835 0.81708715596330275,0.18291284403669724 Region score:0.79; TSS score:0.85; Unmatched score:0.95; Average GERP:3.757564356435645 GeneName:MIR499A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207635; TranscriptID:ENST00000384903; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR499B; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283441; TranscriptID:ENST00000636498; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYH7B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000078814; TranscriptID:ENST00000262873; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000817 26886638 miR-499 rs3746444 G Dominant 1143 subjects (controls = 583; breast cancer = 560) EFO_0000305 N/A increasing risk breast carcinoma rs3746444-G of hsa-mir-499a and its dysfunction is significantly associated with the increasing risk of Breast carcinoma by using case-control analysis in 1143 subjects (controls = 583; breast cancer = 560) 0.4 The Associations of Single Nucleotide Polymorphisms in miR196a2, miR-499, and miR-608 With Breast Cancer Susceptibility: A STROBE-Compliant Observational Study. case-control analysis hsa-mir-499a miRNA Breast carcinoma 0.283 CCACGTGAAC(A > G)TCACAGCAAG chr20: 34990448 0.8165,0.1835 0.81708715596330275,0.18291284403669724 Region score:0.79; TSS score:0.85; Unmatched score:0.95; Average GERP:3.757564356435645 GeneName:MIR499A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207635; TranscriptID:ENST00000384903; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR499B; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283441; TranscriptID:ENST00000636498; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYH7B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000078814; TranscriptID:ENST00000262873; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000817 18634034 mir-499 rs3746444 G Recessive 1,009 breast cancer cases and 1,093 cancer-free controls EFO_0000305 N/A Increasing risk Breast cancer rs3746444-G of mir-499 and its dysfunction is significantly associated with the increasing risk of breast cancer by using case-control analysis in 1,009 breast cancer cases and 1,093 cancer-free controls. 0.4 Common genetic variants in pre-microRNAs were associated with increased risk of breast cancer in Chinese women. case-control analysis hsa-mir-499a miRNA Breast cancer 0.283 CCACGTGAAC(A > G)TCACAGCAAG chr20: 34990448 0.8165,0.1835 0.81708715596330275,0.18291284403669724 Region score:0.79; TSS score:0.85; Unmatched score:0.95; Average GERP:3.757564356435645 GeneName:MIR499A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207635; TranscriptID:ENST00000384903; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR499B; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283441; TranscriptID:ENST00000636498; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYH7B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000078814; TranscriptID:ENST00000262873; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000818 27951730 WT1-AS rs3087923 G N/a 313 aml patients EFO_0000222 N/A No significance for prognosis Acute myeloid leukemia rs3087923-G of WT1-AS and its dysfunction is not significantly associated with acute myeloid leukemia by using analysis of sequence variation in 313 AML patients. -0.4 Long non-coding RNA GAS5 polymorphism predicts a poor prognosis of acute myeloid leukemia in Chinese patients via affecting hematopoietic reconstitution. analysis of sequence variation WT1-AS lncRNA Acute myeloid leukemia -0.33 N/A N/A N/A N/A N/A N/A NCRV0000000819 18391951 NONHSAT172375.1 rs2554380 T N/A 30,968 european ancestry individuals; 8,541 european ancestry individuals EFO_0004339 N/A Associate Height rs2554380-T of NONHSAT172375.1 is significantly associated with the height by using GWAS analysis in 30,968 european ancestry individuals; 8,541 european ancestry individuals(p-value = 9E-7 ;OR = 4.5). 0.4 Many sequence variants affecting diversity of adult human height. genome-wide association analysis NONHSAT172375.1 lncRNA Body height 0.33 GGGAATGACA(C > T)GCAAGGCGGC chr15: 83647132 0.08407,0.9159 0.14142138124362895,0.85857861875637104 Region score:0.43; TSS score:0.46; Unmatched score:0.19; Average GERP:-0.5240792079207918 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000820 24376456 NONHSAT161072.1 rs7116456 T N/A up to 6,882 european ancestry individuals EFO_0000319 alcohol consumption interaction Associate Systolic blood pressure (alcohol consumption interaction) rs7116456-T of NONHSAT161072.1 is significantly associated with the systolic blood pressure (alcohol consumption interaction) by using GWAS analysis in up to 6,882 european ancestry individuals(p-value = 1E-7 ;OR = 0.929). 0.4 Gene-alcohol interactions identify several novel blood pressure loci including a promising locus near SLC16A9. genome-wide association analysis NONHSAT161072.1 lncRNA Cardiovascular disease 0.33 ATAGCATCTG(T > C)TGTTACTATT chr11: 23933767 0.02915,0.9708 0.02729994903160040,0.97270005096839959 Region score:0.29; TSS score:0.21; Unmatched score:0.11; Average GERP:-0.6928485148514852 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000821 20031603 NONHSAT075819.2 rs12476289 A N/A 2,325 european ancestry individuals EFO_0004278 N/A Associate Qt interval rs12476289-A of NONHSAT075819.2 is significantly associated with the qt interval by using GWAS analysis in 2,325 european ancestry individuals(p-value = 2E-6 ;OR = 0.29). 0.4 A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project. genome-wide association analysis NONHSAT075819.2 lncRNA Sudden cardiac arrest 0.33 CATTTCAAGT(C > A,T)GGGAACCTTC chr2: 178777248 0.9247,.,0.07528 0.94197566258919469,.,0.05802433741080530 Region score:0.55; TSS score:0.44; Unmatched score:0.57; Average GERP:3.872891089108909 GeneName:TTN-AS1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000237298; TranscriptID:ENST00000582038; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TTN; CADD-Score:7; Consquence:missense; GeneID:ENSG00000155657; TranscriptID:ENST00000589042; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000822 20881960 NONHSAT200487.1 rs7689420 T N/A 133,653 european ancestry individuals; 50,074 european ancestry individuals EFO_0004339 N/A Associate Height rs7689420-T of NONHSAT200487.1 is significantly associated with the height by using GWAS analysis in 133,653 european ancestry individuals; 50,074 european ancestry individuals(p-value = 6E-51 ;OR = 0.073). 0.4 Hundreds of variants clustered in genomic loci and biological pathways affect human height. genome-wide association analysis NONHSAT200487.1 lncRNA Body height 0.451 AAAACAGACG(T > C)TTCTGCGGTA chr4: 144647200 0.249,0.751 0.22625987512742099,0.77374012487257900 Region score:0.43; TSS score:0.6; Unmatched score:0.94; Average GERP:1.2217870495049505 GeneName:AC098588.1; CADD-Score:2; Consquence:intron,NMD; GeneID:ENSG00000285713; TranscriptID:ENST00000649263; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC098588.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000285783; TranscriptID:ENST00000650526; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HHIP-AS1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000248890; TranscriptID:ENST00000508269; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HHIP; CADD-Score:2; Consquence:intron; GeneID:ENSG00000164161; TranscriptID:ENST00000296575; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000174204; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000822 23563607 NONHSAT200487.1 rs7689420 C N/A 8,097 european ancestry tall individuals//8,099 european ancestry short individuals; 4,872 european ancestry tall individuals//4,831 european ancestry short individuals EFO_0004339 N/A Associate Height rs7689420-C of NONHSAT200487.1 is significantly associated with the height by using GWAS analysis in 8,097 european ancestry tall individuals//8,099 european ancestry short individuals; 4,872 european ancestry tall individuals//4,831 european ancestry short individuals(p-value = 4E-21 ;OR = 1.33). 0.4 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. genome-wide association analysis NONHSAT200487.1 lncRNA Body height 0.451 AAAACAGACG(T > C)TTCTGCGGTA chr4: 144647200 0.249,0.751 0.22625987512742099,0.77374012487257900 Region score:0.43; TSS score:0.6; Unmatched score:0.94; Average GERP:1.2217870495049505 GeneName:AC098588.1; CADD-Score:2; Consquence:intron,NMD; GeneID:ENSG00000285713; TranscriptID:ENST00000649263; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC098588.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000285783; TranscriptID:ENST00000650526; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HHIP-AS1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000248890; TranscriptID:ENST00000508269; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HHIP; CADD-Score:2; Consquence:intron; GeneID:ENSG00000164161; TranscriptID:ENST00000296575; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000174204; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000823 27741504 miR-146a rs2910164 G N/A 218 endometriosis patients and 202 healthy women age-matched controls EFO_0001065 N/A no significance for risk endometriosis rs2910164-G of hsa-mir-146a and its dysfunction is not significantly associated with Endometriosis by using case-control analysis in 218 endometriosis patients and 202 healthy women age-matched controls -0.4 Up-regulation of ribosome biogenesis by MIR196A2 genetic variation promotes endometriosis development and progression. case-control analysis hsa-mir-146a miRNA Endometriosis -0.33 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 0 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000824 27951730 WT1-AS rs11031783 C N/A 313 AML patients EFO_0000222 N/A no significance for prognosis acute myeloid leukemia rs11031783-C of WT1-AS and its dysfunction is not significantly associated with Acute myeloid leukemia by using analysis of sequence variation in 313 AML patients -0.4 Long non-coding RNA GAS5 polymorphism predicts a poor prognosis of acute myeloid leukemia in Chinese patients via affecting hematopoietic reconstitution. analysis of sequence variation WT1-AS lncRNA Acute myeloid leukemia -0.33 CGCCCCCTTC(C > A)TTTCACCCAC chr11:32438377 0.5665,0.4335 0.72350439602446483,0.27649560397553516 Region score:0.32;TSS score:0.38;Unmatched score:0.8;Average GERP:1.496 GeneName:RF02204; CADD_score:1; Consquence:downstream; GeneID:ENSG00000273677; TranscriptID:ENST00000613208; AnnoType:Intergenic; mirSVR-Score:-0.1270; mirSVR-E:-19.88 | GeneName:RF02205; CADD_score:1; Consquence:downstream; GeneID:ENSG00000278045; TranscriptID:ENST00000613262; AnnoType:Intergenic; mirSVR-Score:-0.1270; mirSVR-E:-19.88 | GeneName:RF02203; CADD_score:1; Consquence:downstream; GeneID:ENSG00000278822; TranscriptID:ENST00000619639; AnnoType:Intergenic; mirSVR-Score:-0.1270; mirSVR-E:-19.88 | GeneName:WT1; CADD_score:1; Consquence:upstream; GeneID:ENSG00000184937; TranscriptID:ENST00000332351; AnnoType:Intergenic; mirSVR-Score:-0.1270; mirSVR-E:-19.88 | GeneName:RF02209; CADD_score:1; Consquence:upstream; GeneID:ENSG00000273908; TranscriptID:ENST00000426618; AnnoType:Intergenic; mirSVR-Score:-0.1270; mirSVR-E:-19.88 | GeneName:RF02208; CADD_score:1; Consquence:upstream; GeneID:ENSG00000276530; TranscriptID:ENST00000614919; AnnoType:Intergenic; mirSVR-Score:-0.1270; mirSVR-E:-19.88 | GeneName:RF02210; CADD_score:1; Consquence:upstream; GeneID:ENSG00000277119; TranscriptID:ENST00000615200; AnnoType:Intergenic; mirSVR-Score:-0.1270; mirSVR-E:-19.88 | GeneName:WT1-AS; CADD_score:5; Consquence:noncoding_change; GeneID:ENSG00000183242; TranscriptID:ENST00000395900; AnnoType:NonCodingTranscript; mirSVR-Score:-0.1270; mirSVR-E:-19.88 | NCRV0000000825 26620591 NONHSAT193984.1 rs9866261 G N/A 352 european ancestry cases//537 european ancestry controls; 828 european ancestry cases//1,378 european ancestry controls EFO_0000270 N/A Associate Asthma rs9866261-G of NONHSAT193984.1 is significantly associated with the asthma by using GWAS analysis in 352 european ancestry cases//537 european ancestry controls; 828 european ancestry cases//1,378 european ancestry controls(p-value = 1E-7 ;OR = 1.45). 0.4 Genome-wide association study in Spanish identifies ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), as a novel asthma susceptibility gene. genome-wide association analysis NONHSAT193984.1 lncRNA Asthma 0.33 TGGGGAATAC(A > G)GCAGTGAACA chr3: 64540891 0.6008,0.3992 0.68564443170234454,0.31435556829765545 Region score:0.16; TSS score:0.15; Unmatched score:0.2; Average GERP:-2.0103841584158415 GeneName:ADAMTS9; CADD-Score:2; Consquence:intron; GeneID:ENSG00000163638; TranscriptID:ENST00000498707; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000826 28054174 NONHSAT154533.1 rs12070337 ? N/A 83 asian ancestry cases//1,445 asian ancestry case-parent trios//161 asian ancestry controls//208 european ancestry cases//1,284 european ancestry case-parent trios//835 european ancestry controls//610 latino or african cases//663 latino or african case-parent trios//704 latino or african controls//35 case-parent trios. MONDO_0000358 N/A Associate Orofacial clefts rs12070337-? of NONHSAT154533.1 is significantly associated with the orofacial clefts by using GWAS analysis in 83 asian ancestry cases//1,445 asian ancestry case-parent trios//161 asian ancestry controls//208 european ancestry cases//1,284 european ancestry case-parent trios//835 european ancestry controls//610 latino or african cases//663 latino or african case-parent trios//704 latino or african controls//35 case-parent trios.(p-value = 6E-12 ;OR = 1.4705882). 0.4 Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate. genome-wide association analysis NONHSAT154533.1 lncRNA Orofacial cleft 0.33 N/A N/A N/A N/A N/A N/A NCRV0000000827 28991256 NONHSAT192397.1 rs17002069 C N/A 7,699 chinese ancestry cases//35,476 european ancestry cases//18,327 chinese ancestry controls//46,839 european ancestry controls; 4,384 chinese ancestry cases//5,770 chinese ancestry controls EFO_0000692 N/A Associate Schizophrenia rs17002069-C of NONHSAT192397.1 is significantly associated with the schizophrenia by using GWAS analysis in 7,699 chinese ancestry cases//35,476 european ancestry cases//18,327 chinese ancestry controls//46,839 european ancestry controls; 4,384 chinese ancestry cases//5,770 chinese ancestry controls(p-value = 2E-7 ;OR = 1.062). 0.4 Genome-wide association analysis identifies 30 new susceptibility loci for schizophrenia. genome-wide association analysis NONHSAT192397.1 lncRNA Schizophrenia 0.33 GCATGTTCAA(C > G,T)GTAGTTCCCA chr22: 40654982 0.7482,0.2518,. 0.78679281345565749,0.21319125891946992,0.00001592762487257 Region score:0.32; TSS score:0.45; Unmatched score:0.37; Average GERP:-0.2190714285714286 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000672587; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000828 23453885 NONHSAT168038.1 rs12871532 T N/A 6,990 european ancestry bipolar disorder cases//9,227 european ancestry major depressive disorder cases//9,379 european ancestry schizophrenia cases//161 european ancestry autism spectrum disorder cases//4,788 european ancestry autism spectrum disorder trio cases//840 european ancestry attention deficit-hyperactivity disorder cases//1,947 european ancestry attention defcit-hyperactivity disorder trio cases//27,888 european ancestry controls EFO_0000677 N/A Associate Autism spectrum disorder//attention deficit-hyperactivity disorder//bipolar disorder//major depressive disorder//and schizophrenia (combined) rs12871532-T of NONHSAT168038.1 is significantly associated with the autism spectrum disorder//attention deficit-hyperactivity disorder//bipolar disorder//major depressive disorder//and schizophrenia (combined) by using GWAS analysis in 6,990 european ancestry bipolar disorder cases//9,227 european ancestry major depressive disorder cases//9,379 european ancestry schizophrenia cases//161 european ancestry autism spectrum disorder cases//4,788 european ancestry autism spectrum disorder trio cases//840 european ancestry attention deficit-hyperactivity disorder cases//1,947 european ancestry attention defcit-hyperactivity disorder trio cases//27,888 european ancestry controls(p-value = 1E-6 ;OR = 1.06). 0.4 Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis. genome-wide association analysis NONHSAT168038.1 lncRNA Mental or behavioural disorder 0.33 AGTAGGCACT(T > C)TGTATTACTG chr13: 108016199 0.5323,0.4677 0.53425235728848114,0.46574764271151885 Region score:0.34; TSS score:0.32; Unmatched score:0.03; Average GERP:-0.8111891089108904 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000829 29304813 miR-126 rs4636297 A N/a 287 myocardial infarction cases and 646 control subjects EFO_0000612 N/A No significance for risk Myocardial infarction rs4636297-A of miR-126 and its dysfunction is not significantly associated with myocardial infarction by using case-control analysis in 287 myocardial infarction cases and 646 control subjects. -0.4 The association between pre-miR-27a rs895819 polymorphism and myocardial infarction risk in a Chinese Han population. case-control analysis hsa-mir-126 miRNA Myocardial infarction -0.33 CGCATCGAAA(A > G)CGCCGCTGAG chr9: 136670698 0.3057,0.6943 0.35495508409785932,0.64504491590214067 Region score:0.32; TSS score:0.31; Unmatched score:0.76; Average GERP:0.7106336633663374 GeneName:AGPAT2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000169692; TranscriptID:ENST00000371696; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:EGFL7; CADD-Score:2; Consquence:intron; GeneID:ENSG00000172889; TranscriptID:ENST00000371699; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR126; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000199161; TranscriptID:ENST00000362291; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000243058; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000338220; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000830 27509977 MIR196a2 rs11614913 T Dominant 65 renal cell carcinoma (RCC) and 150 controls EFO_0000681 N/A increasing risk renal cell carcinoma rs11614913-T of hsa-mir-196a-2 and its dysfunction is significantly associated with the increasing risk of Renal cell carcinoma by using case-control analysis in 65 renal cell carcinoma (RCC) and 150 controls 0.4 Combined Genotype Analyses of Precursor miRNA196a2 and 499a Variants with Hepatic and Renal Cancer Susceptibility a Preliminary Study. case-control analysis hsa-mir-196a-2 miRNA Renal cell carcinoma 0.667 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000830 24681820 miR-196a2 rs11614913 C recessive 355 cases and 362 controls in discovery set, meanwhile 647 cases and 660 controls in validation set, as well as RCC survival in 311 patients EFO_0000681 N/A decreased risk and better prognosis renal cell carcinoma rs11614913-C of hsa-mir-196a-2 and its dysfunction is significantly associated with the decreasing risk and better prognosis of Renal cell carcinoma by using case-control analysis in 355 cases and 362 controls in discovery set, meanwhile 647 cases and 660 controls in validation set, as well as RCC survival in 311 patients 0.9 Genetic variations in microRNAs and the risk and survival of renal cell cancer. case-control analysis hsa-mir-196a-2 miRNA Renal cell carcinoma 0.667 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000831 29773352 ANRIL rs10757278 G N/a 200 atherothrombotic stroke cases and 205 controls EFO_1001976 N/A No significance for risk Atherothrombotic stroke rs10757278-G of ANRIL and its dysfunction is not significantly associated with atherothrombotic stroke by using case-control analysis in 200 atherothrombotic stroke cases and 205 controls. -0.4 The ANRIL Genetic Variants and Their Interactions with Environmental Risk Factors on Atherothrombotic Stroke in a Han Chinese Population. case-control analysis ANRIL lncRNA Cardioembolic stroke -0.33 CATTCCGGTA(A > G)GCAGCGATGC chr9: 22124478 0.5919,0.4081 0.59986620795107033,0.40013379204892966 Region score:0.22; TSS score:0.32; Unmatched score:0.24; Average GERP:0.12248019801980198 GeneName:CDKN2B-AS1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000240498; TranscriptID:ENST00000428597; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000877606; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000832 25562672 NONHSAT069432.2 rs1131351 C N/A 3,269 european ancestry individuals; 887 old order amish individuals EFO_0006876 N/A Associate Seasonality rs1131351-C of NONHSAT069432.2 is significantly associated with the seasonality by using GWAS analysis in 3,269 european ancestry individuals; 887 old order amish individuals(p-value = 8E-6 ;OR = 0.51). 0.4 Seasonality shows evidence for polygenic architecture and genetic correlation with schizophrenia and bipolar disorder. genome-wide association analysis NONHSAT069432.2 lncRNA Seasonality measurement 0.33 GCACACCCCA(C > G)GACTCCGTGG chr2: 20202619 0.623,0.377 0.61420107033639143,0.38579892966360856 Region score:0.56; TSS score:0.63; Unmatched score:0.75; Average GERP:0.06126534653465353 GeneName:SDC1; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000115884; TranscriptID:ENST00000381150; AnnoType:3PRIME_UTR; mirSVR-Score:-0.0253; mirSVR-E:-25.59 | NCRV0000000833 28031287 NONHSAT175132.1 rs854625 ? N/A 133 japanese ancestry individuals. EFO_0005772 N/A Associate Cerebrospinal fluid biomarker levels rs854625-? of NONHSAT175132.1 is significantly associated with the cerebrospinal fluid biomarker levels by using GWAS analysis in 133 japanese ancestry individuals.(p-value = 7E-10 ;OR = ?). 0.4 Genome-wide quantitative trait loci mapping of the human cerebrospinal fluid proteome. genome-wide association analysis NONHSAT175132.1 lncRNA Neurodegenerative disease 0.33 CTCACCATTT(G > A,T)TGAACTGGGC chr17: 36001422 N/A 0.81531122579001019,0.18468877420998980,. Region score:0.57; TSS score:0.71; Unmatched score:0.99; Average GERP:-0.12094950495049496 GeneName:AC244100.3; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000275944; TranscriptID:ENST00000619334; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CCL15; CADD-Score:7; Consquence:missense; GeneID:ENSG00000275718; TranscriptID:ENST00000617897; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CCL15-CCL14; CADD-Score:7; Consquence:NMD,missense; GeneID:ENSG00000275688; TranscriptID:ENST00000616694; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000554267; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000834 29083406 NONHSAT165172.1 rs6489785 T N/A 180,129 european ancestry cases//180,709 european ancestry controls EFO_0003785 N/A Associate Allergic disease (asthma//hay fever or eczema) rs6489785-T of NONHSAT165172.1 is significantly associated with the allergic disease (asthma//hay fever or eczema) by using GWAS analysis in 180,129 european ancestry cases//180,709 european ancestry controls(p-value = 2E-15 ;OR = 1.043). 0.4 Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology. genome-wide association analysis NONHSAT165172.1 lncRNA Allergy 0.33 TGATCACAAG(T > C)CCCGATTTTC chr12: 120925921 0.2224,0.7776 0.30761021916411824,0.69238978083588175 Region score:0.14; TSS score:0.36; Unmatched score:0.29; Average GERP:-1.3251861386138613 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000835 20418485 NONHSAT018142.2 rs2060793 A N/A 4,501 european ancestry individuals; 2,221 european ancestry individuals EFO_0003762 N/A Associate Vitamin d levels rs2060793-A of NONHSAT018142.2 is significantly associated with the vitamin d levels by using GWAS analysis in 4,501 european ancestry individuals; 2,221 european ancestry individuals(p-value = 3E-17 ;OR = 0.25). 0.4 Genome-wide association study of circulating vitamin D levels. genome-wide association analysis NONHSAT018142.2 lncRNA Vitamin d deficiency 0.33 GGATAATCCC(A > G)ACTCAAAGAT chr11: 14893764 0.3403,0.6597 0.36841392711518858,0.63158607288481141 Region score:0.36; TSS score:0.39; Unmatched score:0.5; Average GERP:-0.1991618800000002 GeneName:CYP2R1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000186104; TranscriptID:ENST00000334636; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000836 27182965 NONHSAT175472.1 rs6504249 ? N/A 64,143 european ancestry individuals EFO_0007905 N/A Associate Joint mobility (beighton score) rs6504249-? of NONHSAT175472.1 is significantly associated with the joint mobility (beighton score) by using GWAS analysis in 64,143 european ancestry individuals(p-value = 9E-9 ;OR = 0.072). 0.4 Detection and interpretation of shared genetic influences on 42 human traits. genome-wide association analysis NONHSAT175472.1 lncRNA Joint hypermobility measurement 0.33 AACATGACTC(A > G)TAAGCCTGTG chr17: 64680031 0.1781,0.8219 0.21296827217125382,0.78703172782874617 Region score:0.44; TSS score:0.51; Unmatched score:0.46; Average GERP:2.504076831683168 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000837 23918034 NONHSAT142986.2 rs1126179 G N/A 88 european ancestry cases//580 european ancestry controls EFO_0005321 N/A Associate Molar-incisor hypomineralization rs1126179-G of NONHSAT142986.2 is significantly associated with the molar-incisor hypomineralization by using GWAS analysis in 88 european ancestry cases//580 european ancestry controls(p-value = 3E-6 ;OR = 2.13). 0.4 Genome-wide association study (GWAS) for molar-incisor hypomineralization (MIH). genome-wide association analysis NONHSAT142986.2 lncRNA Molar-incisor hypomineralization 0.33 AGAGCCATTC(A > G)CATTTCAAGT chr16: 65861461 0.379,0.621 0.43019718399592252,0.56980281600407747 Region score:0.51; TSS score:0.34; Unmatched score:0.33; Average GERP:0.9712039603960406 GeneName:AC022164.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000260695; TranscriptID:ENST00000568767; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000838 26634245 NONHSAT047568.2 rs1062980 T N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs1062980-T of NONHSAT047568.2 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 1E-9 ;OR = 0.054). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT047568.2 lncRNA Pulmonary function measurement 0.33 TATATAGTTA(T > C)GGGCAGAGGC chr15: 78500185 0.5505,0.4495 0.61133409785932721,0.38866590214067278 Region score:0.28; TSS score:0.48; Unmatched score:0.59; Average GERP:-0.5484970297029703 GeneName:IREB2; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000136381; TranscriptID:ENST00000258886; AnnoType:3PRIME_UTR; mirSVR-Score:-0.0281; mirSVR-E:-27.55 | NCRV0000000839 24124411 NONHSAT157378.1 rs76850691 C N/A 484 korean ancestry children EFO_0001421 N/A Associate Liver enzyme levels (aspartate transaminase) rs76850691-C of NONHSAT157378.1 is significantly associated with the liver enzyme levels (aspartate transaminase) by using GWAS analysis in 484 korean ancestry children(p-value = 9E-7 ;OR = 0.099). 0.4 Genome-wide association study of liver enzymes in korean children. genome-wide association analysis NONHSAT157378.1 lncRNA Liver disease 0.33 TACTCAACCT(G > A,C)CTTGGCTGTT chr10: 99397681 0.9948,.,0.005192 0.99733212283384301,.,0.00266787716615698 Region score:0.46; TSS score:0.26; Unmatched score:0.55; Average GERP:2.0766029702970323 GeneName:CNNM1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000119946; TranscriptID:ENST00000356713; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GOT1; CADD-Score:7; Consquence:missense; GeneID:ENSG00000120053; TranscriptID:ENST00000370508; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GOT1; CADD-Score:8; Consquence:stop_gained; GeneID:ENSG00000120053; TranscriptID:ENST00000370508; AnnoType:STOP_GAINED; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000840 22491018 NONHSAT220682.1 rs1329568 ? N/A 1,157 european and other ancestry rheumatoid arthritis cases; 526 european and other ancestry rheumatoid arthritis cases EFO_0000685 tocilizumab Associate Response to tocilizumab in rheumatoid arthritis rs1329568-? of NONHSAT220682.1 is significantly associated with the response to tocilizumab in rheumatoid arthritis by using GWAS analysis in 1,157 european and other ancestry rheumatoid arthritis cases; 526 european and other ancestry rheumatoid arthritis cases(p-value = 8E-7 ;OR = 19.64). 0.4 Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis. genome-wide association analysis NONHSAT220682.1 lncRNA Rheumatoid arthritis 0.33 GGGCCTGAAC(T > A,G)GTGTCAGCAT chr9: 37037979 0.07788,.,0.9221 0.07003376656472986,0.00517647808358817,0.92478975535168195 Region score:0.38; TSS score:0.68; Unmatched score:0.72; Average GERP:0.681650495049505 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000879847; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PAX5; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000196092; TranscriptID:ENST00000358127; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000841 20453838 NONHSAT159347.1 rs614367 T N/A 3,659 european ancestry cases//4,897 european ancestry controls; 12,576 european ancestry cases//12,223 european ancestry controls EFO_0000305 N/A Associate Breast cancer rs614367-T of NONHSAT159347.1 is significantly associated with the breast cancer by using GWAS analysis in 3,659 european ancestry cases//4,897 european ancestry controls; 12,576 european ancestry cases//12,223 european ancestry controls(p-value = 3E-15 ;OR = 1.15). 0.4 Genome-wide association study identifies five new breast cancer susceptibility loci. genome-wide association analysis NONHSAT159347.1 lncRNA Breast cancer 0.52 TCTGCAACTC(C > T)GCATTACATC chr11: 69513996 N/A 0.87700688073394495,0.12299311926605504 Region score:0.33; TSS score:0.32; Unmatched score:0.11; Average GERP:-0.4771770000000001 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000841 24493630 NONHSAT159347.1 rs614367 ? N/A 3,523 european ancestry young female cases//2,702 european ancestry young female controls; 3,470 european ancestry young female cases//5,475 european ancestry young female controls EFO_0000305 N/A Associate Breast cancer (early onset) rs614367-? of NONHSAT159347.1 is significantly associated with the breast cancer (early onset) by using GWAS analysis in 3,523 european ancestry young female cases//2,702 european ancestry young female controls; 3,470 european ancestry young female cases//5,475 european ancestry young female controls(p-value = 1E-8 ;OR = 1.34). 0.4 A genome-wide association study of early-onset breast cancer identifies PFKM as a novel breast cancer gene and supports a common genetic spectrum for breast cancer at any age. genome-wide association analysis NONHSAT159347.1 lncRNA Breast cancer 0.52 TCTGCAACTC(C > T)GCATTACATC chr11: 69513996 N/A 0.87700688073394495,0.12299311926605504 Region score:0.33; TSS score:0.32; Unmatched score:0.11; Average GERP:-0.4771770000000001 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000841 23535729 NONHSAT159347.1 rs614367 T N/A 10,052 european ancestry cases//12,575 european ancestry controls; 45,290 european ancestry cases//41,880 european ancestry controls EFO_0000305 N/A Associate Breast cancer rs614367-T of NONHSAT159347.1 is significantly associated with the breast cancer by using GWAS analysis in 10,052 european ancestry cases//12,575 european ancestry controls; 45,290 european ancestry cases//41,880 european ancestry controls(p-value = 2E-63 ;OR = 1.21). 0.4 Large-scale genotyping identifies 41 new loci associated with breast cancer risk. genome-wide association analysis NONHSAT159347.1 lncRNA Breast cancer 0.52 TCTGCAACTC(C > T)GCATTACATC chr11: 69513996 N/A 0.87700688073394495,0.12299311926605504 Region score:0.33; TSS score:0.32; Unmatched score:0.11; Average GERP:-0.4771770000000001 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000842 27863252 NONHSAT221416.1 rs10901252 C N/A 172,925 european ancestry individuals EFO_0004509 N/A Associate Hemoglobin concentration rs10901252-C of NONHSAT221416.1 is significantly associated with the hemoglobin concentration by using GWAS analysis in 172,925 european ancestry individuals(p-value = 2E-25 ;OR = 0.07602222). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT221416.1 lncRNA Hemoglobin measurement 0.33 AGGGAGGGGC(G > C)GTTGCCCTCA chr9: 133252613 0.8448,0.1552 0.88808454383282364,0.11191545616717635 Region score:0.32; TSS score:0.37; Unmatched score:0.53; Average GERP:-0.07598019801980205 GeneName:ABO; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000175164; TranscriptID:ENST00000538324; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000843 23212062 NONHSAT189858.1 rs11699237 ? N/A 2,454 european ancestry cases EFO_0000692 N/A Associate Schizophrenia rs11699237-? of NONHSAT189858.1 is significantly associated with the schizophrenia by using GWAS analysis in 2,454 european ancestry cases(p-value = 3E-6 ;OR = 0.1221). 0.4 Genome-wide association study of clinical dimensions of schizophrenia: polygenic effect on disorganized symptoms. genome-wide association analysis NONHSAT189858.1 lncRNA Schizophrenia 0.33 TGAAGGTTCC(T > C)GGCGCCTGAT chr20: 57108940 0.8994,0.1006 0.89414500509683995,0.10585499490316004 Region score:0.3; TSS score:0.53; Unmatched score:0.63; Average GERP:-1.6852227722772284 GeneName:AL157414.2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000231078; TranscriptID:ENST00000442780; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000655602; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000655603; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000844 27863252 NONHSAT168300.1 rs34332679 GA N/A 172,275 european ancestry individuals EFO_0004842 N/A Associate Eosinophil counts rs34332679-GA of NONHSAT168300.1 is significantly associated with the eosinophil counts by using GWAS analysis in 172,275 european ancestry individuals(p-value = 9E-14 ;OR = 0.02791439). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT168300.1 lncRNA Eosinophil count 0.33 GCCATGAGCA(G > GA,GAA)AAAAAAAGGG chr14: 35412760 0.3157,0.6843,. 0.36300649847094801,0.63698553771661569,0.00000796381243628 N/A GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000845 22778062 SNORA24 rs72677031 C N/a N/a function N/A Not significant changes in the structure Function rs72677031-C of SNORA24 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORA24 snoRNA Function -0.049 TTGGGACCTG(T > C)CAGCCGTGGC chr4: 118279212 N/A 0.99838334607543323,0.00161665392456676 Region score:0.37; TSS score:0.43; Unmatched score:0.84; Average GERP:2.4608021485148512 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000172330; AnnoType:REGULATORY; mirSVR-Score:-0.0088; mirSVR-E:-12.21 | GeneName:PRSS12; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000164099; TranscriptID:ENST00000296498; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0088; mirSVR-E:-12.21 | GeneName:SNHG8; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000269893; TranscriptID:ENST00000602414; AnnoType:INTRONIC; mirSVR-Score:-0.0088; mirSVR-E:-12.21 | GeneName:SNORA24; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000275994; TranscriptID:ENST00000384096; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0088; mirSVR-E:-12.21 | NCRV0000000846 29059683 NONHSAT202082.1 rs3215401 A N/A 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls EFO_0000305 N/A Associate Breast cancer rs3215401-A of NONHSAT202082.1 is significantly associated with the breast cancer by using GWAS analysis in 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls(p-value = 1E-20 ;OR = 1.0752687). 0.4 Association analysis identifies 65 new breast cancer risk loci. genome-wide association analysis NONHSAT202082.1 lncRNA Breast cancer 0.451 TTTGGATCTA(A > AG)GGGGCGAGAA chr5: 1296140 0.7019,0.2981 0.74522967635066258,0.25477032364933741 N/A GeneName:TERT; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000164362; TranscriptID:ENST00000310581; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000846 29058716 NONHSAT202082.1 rs3215401 A N/A 7,784 european ancestry carrier cases//7,782 european ancestry carrier controls; 1,630 european ancestry carrier cases//1,712 european ancestry carrier controls EFO_0000305 N/A Associate Breast cancer in brca1 mutation carriers rs3215401-A of NONHSAT202082.1 is significantly associated with the breast cancer in brca1 mutation carriers by using GWAS analysis in 7,784 european ancestry carrier cases//7,782 european ancestry carrier controls; 1,630 european ancestry carrier cases//1,712 european ancestry carrier controls(p-value = 3E-7 ;OR = 1.1111112). 0.4 Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer. genome-wide association analysis NONHSAT202082.1 lncRNA Breast cancer 0.451 TTTGGATCTA(A > AG)GGGGCGAGAA chr5: 1296140 0.7019,0.2981 0.74522967635066258,0.25477032364933741 N/A GeneName:TERT; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000164362; TranscriptID:ENST00000310581; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000847 27863252 NONHSAT210203.1 rs61025394 A N/A 164,339 european ancestry individuals EFO_0007985 N/A Associate Plateletcrit rs61025394-A of NONHSAT210203.1 is significantly associated with the plateletcrit by using GWAS analysis in 164,339 european ancestry individuals(p-value = 3E-9 ;OR = 0.02662813). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT210203.1 lncRNA Plateletcrit 0.33 AAAATTAGCC(G > A)GGCGTGGTGG chr6: 7085584 0.5611,0.4389 0.68922814729867482,0.31077185270132517 Region score:0.28; TSS score:0.28; Unmatched score:0.06; Average GERP:-0.7117190099009895 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000848 26997512 miR-146a rs2910164 C Dominant 890 participants had dn (168 with t1dm and 722 with t2dm), 731 had pdr (251 with t1dm and 480 with t2dm) and 1026 had dme (170 with t1dm and 856 with t2dm) EFO_0009321 N/A Increasing risk Type 2 (t2dm) diabetes mellitus with diabetic macular oedema rs2910164-C of miR-146a and its dysfunction is significantly associated with the increasing risk of type 2 (T2DM) diabetes mellitus with diabetic macular oedema by using case-control analysis in 890 participants had DN (168 with T1DM and 722 with T2DM), 731 had PDR (251 with T1DM and 480 with T2DM) and 1026 had DME (170 with T1DM and 856 with T2DM). 0.4 A single-nucleotide polymorphism in the MicroRNA-146a gene is associated with diabetic nephropathy and sight-threatening diabetic retinopathy in Caucasian patients. case-control analysis hsa-mir-146a miRNA Diabetic macular edema 0.33 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 N/A 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000849 20877300 NONHSAT221912.1 rs11143230 C N/A 706 european ancestry individuals EFO_0004320 N/A Associate Suicidal ideation rs11143230-C of NONHSAT221912.1 is significantly associated with the suicidal ideation by using GWAS analysis in 706 european ancestry individuals(p-value = 7E-6 ;OR = 2.22). 0.4 Genome-wide association study of increasing suicidal ideation during antidepressant treatment in the GENDEP project. genome-wide association analysis NONHSAT221912.1 lncRNA Suicidal ideation 0.33 TCCATGACAG(A > C,G,T)TGTTAAGAGT chr9: 72272787 0.7654,0.2346,.,. 0.74831963557594291,0.25167240061162079,0.00000796381243628,. Region score:0.4; TSS score:0.42; Unmatched score:0.39; Average GERP:0.020434653465346543 GeneName:AL135924.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000233933; TranscriptID:ENST00000446146; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000335957; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000850 26053186 NONHSAT195182.1 rs147484948 ? N/A 362 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//438 european ancestry current smoker individuals//449 latino current smoker individuals//704 japanese ancestry current smoker individuals EFO_0001071 in smokers Associate 3-hydroxypropylmercapturic acid levels in smokers rs147484948-? of NONHSAT195182.1 is significantly associated with the 3-hydroxypropylmercapturic acid levels in smokers by using GWAS analysis in 362 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//438 european ancestry current smoker individuals//449 latino current smoker individuals//704 japanese ancestry current smoker individuals(p-value = 1E-7 ;OR = 1.2626). 0.4 Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer. genome-wide association analysis NONHSAT195182.1 lncRNA Lung cancer 0.33 TTGTACCTAC(T > C)CCTTGCCCTC chr3: 194517169 0.9433,0.05671 0.94928644240570846,0.05071355759429153 Region score:0.36; TSS score:0.42; Unmatched score:0.54; Average GERP:0.11456930693069295 GeneName:LINC00884; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000233058; TranscriptID:ENST00000448892; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0035; mirSVR-E:-14.92 | NCRV0000000851 25282103 NONHSAT176424.1 rs2378870 T N/A 253,288 european ancestry individuals; 80,067 european ancestry individuals EFO_0004339 N/A Associate Height rs2378870-T of NONHSAT176424.1 is significantly associated with the height by using GWAS analysis in 253,288 european ancestry individuals; 80,067 european ancestry individuals(p-value = 4E-10 ;OR = 0.02). 0.4 Defining the role of common variation in the genomic and biological architecture of adult human height. genome-wide association analysis NONHSAT176424.1 lncRNA Body height 0.33 AAGGCAACAT(T > C,G)ACCTATAACT chr17: 61561262 0.635,0.365,. 0.54701834862385321,0.45296572375127420,0.00001592762487257 Region score:0.35; TSS score:0.29; Unmatched score:0.16; Average GERP:0.2905788019801978 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000560691; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000852 28424481 NONHSAT054904.2 rs1443267 A N/A 115 japanese ancestry female cases//419 japanese ancestry male and female controls EFO_0002689 N/A Associate Obstetric antiphospholipid syndrome rs1443267-A of NONHSAT054904.2 is significantly associated with the obstetric antiphospholipid syndrome by using GWAS analysis in 115 japanese ancestry female cases//419 japanese ancestry male and female controls(p-value = 3E-6 ;OR = 2.75). 0.4 The first genome-wide association study identifying new susceptibility loci for obstetric antiphospholipid syndrome. genome-wide association analysis NONHSAT054904.2 lncRNA Antiphospholipid syndrome 0.33 TGTAGGGAAC(A > G)TAACACTTAA chr17: 57834081 0.1841,0.8159 0.20353911824668705,0.79646088175331294 Region score:0.31; TSS score:0.41; Unmatched score:0.39; Average GERP:0.47097029702970283 GeneName:AC015845.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000265542; TranscriptID:ENST00000580960; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MRPS23; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000181610; TranscriptID:ENST00000313608; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000283903; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000853 23251661 NONHSAT214837.1 rs10487245 A N/A 815 hispanic children from 263 families EFO_0004736 N/A Associate Obesity-related traits rs10487245-A of NONHSAT214837.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 2E-6 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. genome-wide association analysis NONHSAT214837.1 lncRNA Aspartate aminotransferase measurement 0.33 AACTGCTGTG(G > A)TGGATAAAGA chr7: 94084209 0.8818,0.1182 0.90933199541284403,0.09066800458715596 Region score:0.44; TSS score:0.32; Unmatched score:0.28; Average GERP:1.2140990099009903 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000854 28691018 miR-10b rs10196832 G N/a 1,064 breast cancer cases and 1,073 cancer-free controls EFO_0000305 N/A No significance for risk Breast cancer rs10196832-G of miR-10b and its dysfunction is not significantly associated with breast cancer by using case-control analysis in 1,064 breast cancer cases and 1,073 cancer-free controls. -0.4 Genetic Variants in the Promoter Region of miR-10b and the Risk of Breast Cancer. case-control analysis hsa-mir-10b miRNA Breast cancer -0.33 ATTGATGTCA(T > C)ACCCATAGAG chr2: 176146927 0.8167,0.1833 0.83574636850152905,0.16425363149847094 Region score:0.49; TSS score:0.44; Unmatched score:0.51; Average GERP:1.6275039603960395 GeneName:AC009336.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000278500; TranscriptID:ENST00000468418; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXD3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000128652; TranscriptID:ENST00000432796; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXD4; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000170166; TranscriptID:ENST00000306324; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR10B; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207744; TranscriptID:ENST00000385011; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000855 20676098 NONHSAT218827.1 rs7837688 ? N/A 1,583 japanese ancestry cases//3,386 japanese ancestry controls; 3,001 japanese ancestry cases//5,415 japanese ancestry controls EFO_0001663 N/A Associate Prostate cancer rs7837688-? of NONHSAT218827.1 is significantly associated with the prostate cancer by using GWAS analysis in 1,583 japanese ancestry cases//3,386 japanese ancestry controls; 3,001 japanese ancestry cases//5,415 japanese ancestry controls(p-value = 1E-25 ;OR = ?). 0.4 Genome-wide association study identifies five new susceptibility loci for prostate cancer in the Japanese population. genome-wide association analysis NONHSAT218827.1 lncRNA Prostate cancer 0.33 TGGTGCATTT(T > G)GTACAATTGG chr8: 127527115 0.1058,0.8942 0.08730727573904179,0.91269272426095820 Region score:0.22; TSS score:0.15; Unmatched score:0.04; Average GERP:-0.8920435643564358 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000856 27863252 NONHSAT187909.1 rs7585866 G N/A 166,066 european ancestry individuals EFO_0004309 N/A Associate Platelet count rs7585866-G of NONHSAT187909.1 is significantly associated with the platelet count by using GWAS analysis in 166,066 european ancestry individuals(p-value = 1E-9 ;OR = 0.02336802). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT187909.1 lncRNA Platelet count 0.33 AATTATATTC(A > G)TAGGCTAGGT chr2: 191831529 0.87,0.13 0.77298356269113149,0.22701643730886850 Region score:0.4; TSS score:0.55; Unmatched score:0.29; Average GERP:-1.0880683168316831 GeneName:CAVIN2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000168497; TranscriptID:ENST00000304141; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000631995; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000631996; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000857 22661538 mir219-1 rs213210 T Dominant 1,097 patients with crc EFO_0005842 N/A Poor prognosis Colorectal cancer (crc) receiving first-line fluoropyrimidine-based chemotherapy rs213210-T of mir219-1 and its dysfunction is significantly associated with the poor prognosis of colorectal cancer (CRC) receiving first-line fluoropyrimidine-based chemotherapy by using analysis of sequence variation in 1,097 patients with CRC. 0.4 Genetic polymorphisms in MicroRNA-related genes as predictors of clinical outcomes in colorectal adenocarcinoma patients. analysis of sequence variation hsa-mir-219a-1 miRNA Colorectal cancer 0.451 GTGTGTTCTC(A > C,G)GGACTAGAAG chr6: 33208047 0.8251,.,0.1749 0.89192310142711518,0.00001592762487257,0.10806097094801223 Region score:0.27; TSS score:0.57; Unmatched score:0.93; Average GERP:-0.5706584158415842 GeneName:HSD17B8; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000204228; TranscriptID:ENST00000374662; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR219A1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000199036; TranscriptID:ENST00000362166; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000195766; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RING1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000204227; TranscriptID:ENST00000374656; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SLC39A7; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000112473; TranscriptID:ENST00000374677; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000857 25368035 miR-219-1 rs213210 T Dominant 1083 crc patients recruited in the czech republic EFO_0005842 N/A Poor prognosis Colorectal cancer rs213210-T of miR-219-1 and its dysfunction is significantly associated with the poor prognosis of Colorectal cancer by using case-control analysis in 1083 CRC patients recruited in the Czech Republic. 0.4 Polymorphisms in microRNA genes as predictors of clinical outcomes in colorectal cancer patients. case-control analysis hsa-mir-219a-1 miRNA Colorectal cancer 0.451 GTGTGTTCTC(A > C,G)GGACTAGAAG chr6: 33208047 0.8251,.,0.1749 0.89192310142711518,0.00001592762487257,0.10806097094801223 Region score:0.27; TSS score:0.57; Unmatched score:0.93; Average GERP:-0.5706584158415842 GeneName:HSD17B8; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000204228; TranscriptID:ENST00000374662; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR219A1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000199036; TranscriptID:ENST00000362166; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000195766; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RING1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000204227; TranscriptID:ENST00000374656; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SLC39A7; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000112473; TranscriptID:ENST00000374677; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000858 23934736 NONHSAT175312.1 rs3096644 G N/A 1,260 african american individuals EFO_0005275 N/A Associate Metabolite levels (dihydroxy docosatrienoic acid) rs3096644-G of NONHSAT175312.1 is significantly associated with the metabolite levels (dihydroxy docosatrienoic acid) by using GWAS analysis in 1,260 african american individuals(p-value = 6E-6 ;OR = 0.08). 0.4 Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study. genome-wide association analysis NONHSAT175312.1 lncRNA Dihydroxy docosatrienoic acid measurement 0.33 ATCAGTGAGC(G > A,T)TCTTAGCTTT chr17: 48680213 0.5595,.,0.4405 0.56398923292558613,0.00005574668705402,0.43595502038735983 Region score:0.37; TSS score:0.44; Unmatched score:0.33; Average GERP:-0.40574356435643555 GeneName:LINC02086; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000244649; TranscriptID:ENST00000492522; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000095373; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000859 24390342 NONHSAT062856.2 rs77331626 G N/A up to 14,361 european ancestry cases//up to 42,923 european ancestry controls//up to 4,873 east asian ancestry cases//up to 17,642 east asian ancestry controls; up to 3,775 european ancestry cases//up to 5,801 european ancestry controls//up to 6,871 east asian ancestry cases//up to 6,392 east asian ancestry controls EFO_0000685 N/A Associate Rheumatoid arthritis rs77331626-G of NONHSAT062856.2 is significantly associated with the rheumatoid arthritis by using GWAS analysis in up to 14,361 european ancestry cases//up to 42,923 european ancestry controls//up to 4,873 east asian ancestry cases//up to 17,642 east asian ancestry controls; up to 3,775 european ancestry cases//up to 5,801 european ancestry controls//up to 6,871 east asian ancestry cases//up to 6,392 east asian ancestry controls(p-value = 7E-24 ;OR = 1.21). 0.4 Genetics of rheumatoid arthritis contributes to biology and drug discovery. genome-wide association analysis NONHSAT062856.2 lncRNA Rheumatoid arthritis 0.33 ACAAAATAAA(T > A)TAAAAACAAA chr19: 17323284 N/A RS=77331626;RSPOS=17323284;dbSNPBuildID=131;SSR=0;SAO=0;VP=0x050020840005000102020100;GENEINFO=DDA1:79016|ANO8:57719;WGT=1;VC=SNV;PM;U3;R3;ASP;GNO;MTP Region score:0.69; TSS score:0.87; Unmatched score:0.92; Average GERP:3.287969690721646 GeneName:ANO8; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000074855; TranscriptID:ENST00000159087; AnnoType:3PRIME_UTR; mirSVR-Score:-0.8979; mirSVR-E:-5.50 | GeneName:DDA1; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000130311; TranscriptID:ENST00000359866; AnnoType:3PRIME_UTR; mirSVR-Score:-0.8979; mirSVR-E:-5.50 | NCRV0000000860 20729852 NONHSAT152363.1 rs4072037 A N/A 1,625 chinese ancestry gastric cancer cases//1,898 chinese ancestry escc cases//2,100 chinese ancestry controls EFO_0000178 N/A Associate Esophageal cancer and gastric cancer rs4072037-A of NONHSAT152363.1 is significantly associated with the esophageal cancer and gastric cancer by using GWAS analysis in 1,625 chinese ancestry gastric cancer cases//1,898 chinese ancestry escc cases//2,100 chinese ancestry controls(p-value = 4E-7 ;OR = 1.33). 0.4 A shared susceptibility locus in PLCE1 at 10q23 for gastric adenocarcinoma and esophageal squamous cell carcinoma. genome-wide association analysis NONHSAT152363.1 lncRNA Gastric cancer 0.52 GACCAGAACC(C > A,T)GTAACAACTG chr1: 155192276 0.3712,.,0.6288 0.40077089704383282,.,0.59922910295616717 Region score:0.23; TSS score:0.41; Unmatched score:0.88; Average GERP:-1.2133722772277231 GeneName:AC234582.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000231064; TranscriptID:ENST00000447623; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR92B; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284586; TranscriptID:ENST00000607575; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MUC1; CADD-Score:5; Consquence:synonymous; GeneID:ENSG00000185499; TranscriptID:ENST00000612778; AnnoType:SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000014041; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:THBS3; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000169231; TranscriptID:ENST00000368378; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000860 26129866 NONHSAT152363.1 rs4072037 A N/A 2,350 east asian ancestry cases//2,708 east asian ancestry controls; 7,408 east asian ancestry cases//7,548 east asian ancestry controls EFO_0000178 N/A Associate Gastric cancer rs4072037-A of NONHSAT152363.1 is significantly associated with the gastric cancer by using GWAS analysis in 2,350 east asian ancestry cases//2,708 east asian ancestry controls; 7,408 east asian ancestry cases//7,548 east asian ancestry controls(p-value = 7E-8 ;OR = 1.32). 0.4 Genome-wide association study of gastric adenocarcinoma in Asia: a comparison of associations between cardia and non-cardia tumours. genome-wide association analysis NONHSAT152363.1 lncRNA Gastric cancer 0.52 GACCAGAACC(C > A,T)GTAACAACTG chr1: 155192276 0.3712,.,0.6288 0.40077089704383282,.,0.59922910295616717 Region score:0.23; TSS score:0.41; Unmatched score:0.88; Average GERP:-1.2133722772277231 GeneName:AC234582.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000231064; TranscriptID:ENST00000447623; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR92B; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284586; TranscriptID:ENST00000607575; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MUC1; CADD-Score:5; Consquence:synonymous; GeneID:ENSG00000185499; TranscriptID:ENST00000612778; AnnoType:SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000014041; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:THBS3; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000169231; TranscriptID:ENST00000368378; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000860 26701879 NONHSAT152363.1 rs4072037 T N/A 2,031 han chinese ancestry cases//4,970 han chinese ancestry controls; 3,564 han chinese ancestry cases//4,637 han chinese ancestry controls EFO_0000178 N/A Associate Non-cardia gastric cancer rs4072037-T of NONHSAT152363.1 is significantly associated with the non-cardia gastric cancer by using GWAS analysis in 2,031 han chinese ancestry cases//4,970 han chinese ancestry controls; 3,564 han chinese ancestry cases//4,637 han chinese ancestry controls(p-value = 6E-17 ;OR = 1.3513513). 0.4 Identification of new susceptibility loci for gastric non-cardia adenocarcinoma: pooled results from two Chinese genome-wide association studies. genome-wide association analysis NONHSAT152363.1 lncRNA Gastric cancer 0.52 GACCAGAACC(C > A,T)GTAACAACTG chr1: 155192276 0.3712,.,0.6288 0.40077089704383282,.,0.59922910295616717 Region score:0.23; TSS score:0.41; Unmatched score:0.88; Average GERP:-1.2133722772277231 GeneName:AC234582.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000231064; TranscriptID:ENST00000447623; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR92B; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284586; TranscriptID:ENST00000607575; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MUC1; CADD-Score:5; Consquence:synonymous; GeneID:ENSG00000185499; TranscriptID:ENST00000612778; AnnoType:SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000014041; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:THBS3; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000169231; TranscriptID:ENST00000368378; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000861 28084903 NONHSAT055407.2 rs144023814 ? N/A 123 european ancestry cases//1,345 european and unknown ancestry controls//1 middle eastern ancestry case; nr HP_0012735 angiotensin-converting enzyme inhibitor drugs Associate Cough in response to angiotensin-converting enzyme inhibitor drugs rs144023814-? of NONHSAT055407.2 is significantly associated with the cough in response to angiotensin-converting enzyme inhibitor drugs by using GWAS analysis in 123 european ancestry cases//1,345 european and unknown ancestry controls//1 middle eastern ancestry case; nr(p-value = 4E-7 ;OR = 7.35). 0.4 Genetic variants associated with angiotensin-converting enzyme inhibitor-induced cough: a genome-wide association study in a Swedish population. genome-wide association analysis NONHSAT055407.2 lncRNA Cough 0.33 GCTGGAGGCC(G > A)AAACATTTCT chr17: 67043327 0.9946,0.005391 0.99231492099898063,0.00768507900101936 Region score:0.43; TSS score:0.62; Unmatched score:0.73; Average GERP:-1.0816141584158414 GeneName:CACNG1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000108878; TranscriptID:ENST00000226021; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000862 28739976 NONHSAT159899.1 rs11222084 T N/A 150,134 european ancestry individuals; 87,359 european ancestry individuals//140,886 european and unknown ancestry individuals EFO_0005763 N/A Associate Pulse pressure rs11222084-T of NONHSAT159899.1 is significantly associated with the pulse pressure by using GWAS analysis in 150,134 european ancestry individuals; 87,359 european ancestry individuals//140,886 european and unknown ancestry individuals(p-value = 2E-12 ;OR = 0.353). 0.4 Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.LID - HYPERTENSIONAHA.117.09438 [pii]LID - 10.1161/HYPERTENSIONAHA.117.09438 [doi]AB - Elevated blood pressure genome-wide association analysis NONHSAT159899.1 lncRNA Pulse pressure measurement 0.52 GCAGCTGTTG(A > T)ATTTCCAGAC chr11: 130403335 0.7861,0.2139 0.71576357033639143,0.28423642966360856 Region score:0.42; TSS score:0.52; Unmatched score:0.54; Average GERP:2.990648514851484 GeneName:ADAMTS8; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000134917; TranscriptID:ENST00000257359; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AP002986.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000175773; TranscriptID:ENST00000602376; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000047097; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000862 21909110 NONHSAT159899.1 rs11222084 T N/A 74,064 european ancestry individuals; 48,607 european ancestry individuals EFO_0005763 N/A Associate Blood pressure rs11222084-T of NONHSAT159899.1 is significantly associated with the blood pressure by using GWAS analysis in 74,064 european ancestry individuals; 48,607 european ancestry individuals(p-value = 2E-11 ;OR = 0.337). 0.4 Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. genome-wide association analysis NONHSAT159899.1 lncRNA Pulse pressure measurement 0.52 GCAGCTGTTG(A > T)ATTTCCAGAC chr11: 130403335 0.7861,0.2139 0.71576357033639143,0.28423642966360856 Region score:0.42; TSS score:0.52; Unmatched score:0.54; Average GERP:2.990648514851484 GeneName:ADAMTS8; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000134917; TranscriptID:ENST00000257359; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AP002986.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000175773; TranscriptID:ENST00000602376; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000047097; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000862 26390057 NONHSAT159899.1 rs11222084 A N/A 31,516 east asian ancestry individuals// 35,352 european ancestry individuals//33,126 south asian ancestry individuals; 87,205 individuals//48,268 east asian ancestry individuals//68,456 european ancestry individuals and 16,328 south asian ancestry individuals EFO_0005763 N/A Associate Pulse pressure rs11222084-A of NONHSAT159899.1 is significantly associated with the pulse pressure by using GWAS analysis in 31,516 east asian ancestry individuals// 35,352 european ancestry individuals//33,126 south asian ancestry individuals; 87,205 individuals//48,268 east asian ancestry individuals//68,456 european ancestry individuals and 16,328 south asian ancestry individuals(p-value = 4E-6 ;OR = 0.4993). 0.4 Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation. genome-wide association analysis NONHSAT159899.1 lncRNA Pulse pressure measurement 0.52 GCAGCTGTTG(A > T)ATTTCCAGAC chr11: 130403335 0.7861,0.2139 0.71576357033639143,0.28423642966360856 Region score:0.42; TSS score:0.52; Unmatched score:0.54; Average GERP:2.990648514851484 GeneName:ADAMTS8; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000134917; TranscriptID:ENST00000257359; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AP002986.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000175773; TranscriptID:ENST00000602376; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000047097; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000863 27863252 NONHSAT008671.2 rs1434282 T N/A 172,952 european ancestry individuals EFO_0004305 N/A Associate Red blood cell count rs1434282-T of NONHSAT008671.2 is significantly associated with the red blood cell count by using GWAS analysis in 172,952 european ancestry individuals(p-value = 7E-29 ;OR = 0.04484456). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT008671.2 lncRNA Erythrocyte count 0.33 TCCCAAGAGA(C > T)GTTATCAGTC chr1: 199041592 0.219,0.781 0.23566513761467889,0.76433486238532110 Region score:0.7; TSS score:0.66; Unmatched score:0.73; Average GERP:2.7453069306930686 GeneName:LINC01221; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000235492; TranscriptID:ENST00000432488; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000864 27989323 NONHSAT191462.1 rs2836049 C N/A 3,505 finnish ancestry individuals EFO_0000540 N/A Associate Growth-regulated protein alpha levels rs2836049-C of NONHSAT191462.1 is significantly associated with the growth-regulated protein alpha levels by using GWAS analysis in 3,505 finnish ancestry individuals(p-value = 7E-6 ;OR = 0.1896). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. genome-wide association analysis NONHSAT191462.1 lncRNA Immune system disease 0.33 AGTCATAGTT(C > T)GGTGAATAAG chr21: 37912334 0.9433,0.05671 0.92788767838939857,0.07211232161060142 Region score:0.23; TSS score:0.32; Unmatched score:0.5; Average GERP:0.5428712871287129 GeneName:KCNJ6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000157542; TranscriptID:ENST00000609713; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000865 24882193 NONHSAT211650.1 rs13233490 ? N/A 206 european ancestry cases with binge eating behavior//723 european ancestry cases without binge eating behavior//1,034 european ancestry controls; 70 european ancestry cases with binge eating behavior//758 european ancestry cases without binge eating behavior//832 european ancestry controls EFO_0000289 N/A Associate Binge eating behaviour and bipolar disorder rs13233490-? of NONHSAT211650.1 is significantly associated with the binge eating behaviour and bipolar disorder by using GWAS analysis in 206 european ancestry cases with binge eating behavior//723 european ancestry cases without binge eating behavior//1,034 european ancestry controls; 70 european ancestry cases with binge eating behavior//758 european ancestry cases without binge eating behavior//832 european ancestry controls(p-value = 4E-6 ;OR = 4.89). 0.4 Bipolar disorder with comorbid binge eating history: a genome-wide association study implicates APOB. genome-wide association analysis NONHSAT211650.1 lncRNA Bipolar disorder 0.33 TCCAGTGGTA(G > C)TTTTTTACCT chr7: 9030639 N/A 0.95927306320081549,0.04072693679918450 Region score:0.36; TSS score:0.13; Unmatched score:0.03; Average GERP:-1.2344089108910894 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000866 28540026 NONHSAT206231.1 rs427691 A N/A schizophrenia cases and controls (see ripke//2014)cases//up to 1,190 controls EFO_0000692 N/A Associate Schizophrenia rs427691-A of NONHSAT206231.1 is significantly associated with the schizophrenia by using GWAS analysis in schizophrenia cases and controls (see ripke//2014)cases//up to 1,190 controls(p-value = 3E-8 ;OR = 1.06). 0.4 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. genome-wide association analysis NONHSAT206231.1 lncRNA Schizophrenia 0.33 AAAAGCTAGG(G > A)AGAAATGAGA chr5: 109678809 0.6773,0.3227 0.75765322375127420,0.24234677624872579 Region score:0.57; TSS score:0.67; Unmatched score:0.38; Average GERP:1.8470094736842115 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000765302; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000867 23906647 miR-96 rs2693727 ? N/A 695 adults with ADHD (266 and 396 subjects with and without comorbid SUD, respectively), 403 subjects with SUD without life-time diagnosis of ADHD and 485 sex-matched controls from Spain EFO_0003888 N/A no significance for risk attention deficit hyperactivity disorder rs2693727-? of hsa-mir-96 and its dysfunction is not significantly associated with Attention deficit hyperactivity disorder by using case-control analysis in 695 adults with ADHD (266 and 396 subjects with and without comorbid SUD, respectively), 403 subjects with SUD without life-time diagnosis of ADHD and 485 sex-matched controls from Spain -0.4 Evaluation of single nucleotide polymorphisms in the miR-183-96-182 cluster in adulthood attention-deficit and hyperactivity disorder (ADHD) and substance use disorders (SUDs). case-control analysis hsa-mir-96 miRNA Attention deficit hyperactivity disorder -0.33 CCCTCCTGAA(C > T)TCTACTTGGG chr7: 129777890 0.1194,0.8806 0.13930300713557594,0.86069699286442405 Region score:0.32; TSS score:0.5; Unmatched score:0.36; Average GERP:-0.879677227722772 GeneName:MIR183; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207691; TranscriptID:ENST00000384958; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR96; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000199158; TranscriptID:ENST00000362288; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000868 24995424 miR-122 rs4503880 A N/A 1,300 HBV-positive HCC cases, 1,344 HBV carriers, and 1,344 persons who cleared HBV naturally EFO_0004239 N/A no significance for risk chronic hepatitis B virus infection rs4503880-A of hsa-mir-122 and its dysfunction is not significantly associated with Chronic hepatitis b infection by using case-control analysis in 1,300 HBV-positive HCC cases, 1,344 HBV carriers, and 1,344 persons who cleared HBV naturally -0.4 A genetic variant in microRNA-122 regulatory region confers risk for chronic hepatitis B virus infection and hepatocellular carcinoma in Han Chinese. case-control analysis hsa-mir-122 miRNA Chronic hepatitis b infection -0.33 TCTGTAAATT(T > A,C)CAATCTTGTT chr18: 58416822 0.1743,.,0.8257 0.18251465341488277,0.00259620285423037,0.81488914373088685 Region score:0.43; TSS score:0.39; Unmatched score:0.37; Average GERP:-0.4411207920792079 GeneName:AC105105.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000267675; TranscriptID:ENST00000585470; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000103947; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000869 22778062 SNORD88A rs3810285 A N/A N/A function N/A not significant changes in the structure function rs3810285-A of SNORD88A and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in nan -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD88A snoRNA function -0.049 CAGTGGCAGT(C > T)GGAGCCCAGT chr19: 50799502 0.9946,0.005391 0.99800904689092762,0.00199095310907237 Region score:0.43; TSS score:0.37; Unmatched score:0.69; Average GERP:1.2467316831683164 GeneName:ACP4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000142513; TranscriptID:ENST00000270593; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:C19orf48; CADD-Score:2; Consquence:intron; GeneID:ENSG00000167747; TranscriptID:ENST00000391812; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORD88A; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000221241; TranscriptID:ENST00000408314; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORD88B; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000221381; TranscriptID:ENST00000408454; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORD88C; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000220988; TranscriptID:ENST00000408061; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000870 24529757 NONHSAT168956.1 rs10145110 ? N/A 250 han chinese ancestry cases//250 han chinese ancestry controls EFO_0001357 N/A Associate Amyotrophic lateral sclerosis (sporadic) rs10145110-? of NONHSAT168956.1 is significantly associated with the amyotrophic lateral sclerosis (sporadic) by using GWAS analysis in 250 han chinese ancestry cases//250 han chinese ancestry controls(p-value = 1E-7 ;OR = ?). 0.4 Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations. genome-wide association analysis NONHSAT168956.1 lncRNA Sporadic amyotrophic lateral sclerosis 0.33 TTGTCTCGCA(C > T)CTGTGGGCTT chr14: 101008533 0.8862,0.1138 0.89867641437308868,0.10132358562691131 Region score:0.2; TSS score:0.31; Unmatched score:0.23; Average GERP:-1.3394386138613867 GeneName:MEG8; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000225746; TranscriptID:ENST00000636391; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000073226; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000871 25461247 NONHSAT088979.2 rs7623430 G N/A up 346 european ancestry individuals//up to 265 black individuals//up to 175 hispanic individuals EFO_0000180 abacavir-containing treatment Associate Response to abacavir-containing treatment in hiv-1 infection (virologic failure) rs7623430-G of NONHSAT088979.2 is significantly associated with the response to abacavir-containing treatment in hiv-1 infection (virologic failure) by using GWAS analysis in up 346 european ancestry individuals//up to 265 black individuals//up to 175 hispanic individuals(p-value = 7E-6 ;OR = 3.03). 0.4 Genome-wide association study of virologic response with efavirenz-containing or abacavir-containing regimens in AIDS clinical trials group protocols. genome-wide association analysis NONHSAT088979.2 lncRNA Hiv-1 infection 0.33 GATCTTCCTT(G > C)TTGTACACAG chr3: 36169851 0.4469,0.5531 0.51439857288481141,0.48560142711518858 Region score:0.27; TSS score:0.05; Unmatched score:0.22; Average GERP:0.1711407693069307 GeneName:RFC3P1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000236158; TranscriptID:ENST00000454568; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000872 24816252 NONHSAT161941.1 rs4149056 T N/A up to 5,591 european ancestry individuals; up to 1,767 european ancestry individuals EFO_0005664 N/A Associate Blood metabolite levels rs4149056-T of NONHSAT161941.1 is significantly associated with the blood metabolite levels by using GWAS analysis in up to 5,591 european ancestry individuals; up to 1,767 european ancestry individuals(p-value = 6E-315 ;OR = 0.295). 0.4 An atlas of genetic influences on human blood metabolites. genome-wide association analysis NONHSAT161941.1 lncRNA Blood metabolite measurement 0.33 TGGATATATG(T > C)GTTCATGGGT chr12: 21178615 0.9123,0.08766 0.88942246432212028,0.11057753567787971 Region score:0.23; TSS score:0.25; Unmatched score:0.35; Average GERP:1.2973861386138623 GeneName:AC022335.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000257062; TranscriptID:ENST00000543498; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SLCO1B1; CADD-Score:7; Consquence:missense; GeneID:ENSG00000134538; TranscriptID:ENST00000256958; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000873 27989323 NONHSAT130766.2 rs184329319 G N/A 3,631 finnish ancestry individuals EFO_0005140 N/A Associate Ctack levels rs184329319-G of NONHSAT130766.2 is significantly associated with the ctack levels by using GWAS analysis in 3,631 finnish ancestry individuals(p-value = 8E-6 ;OR = 0.2919). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. genome-wide association analysis NONHSAT130766.2 lncRNA Autoimmune disease 0.33 GTGGTCCTGA(G > T)ACTGGCTGGG chr9: 33603211 0.9928,0.007188 0.99057084607543323,0.00942915392456676 Region score:0.2; TSS score:0.07; Unmatched score:0.25; Average GERP:0.100108910891089 GeneName:CYP4F26P; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000226562; TranscriptID:ENST00000433357; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000874 26634245 NONHSAT212897.1 rs189909051 T N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio rs189909051-T of NONHSAT212897.1 is significantly associated with the post bronchodilator fev1/fvc ratio by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 2E-6 ;OR = 0.41). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT212897.1 lncRNA Pulmonary function measurement 0.33 CCACAACGGT(C > T)GGTCCCTGGA chr7: 152034718 0.999,0.0009984 0.99930714831804281,0.00069285168195718 Region score:0.24; TSS score:0.14; Unmatched score:0.12; Average GERP:0 GeneName:GALNT11; CADD-Score:2; Consquence:intron; GeneID:ENSG00000178234; TranscriptID:ENST00000430044; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000875 28598434 NONHSAT003179.2 rs13376700 ? N/A 10,784 european ancestry cases//20,406 european ancestry controls; 3,182 european ancestry cases//6,301 european ancestry controls EFO_0000681 N/A Associate Renal cell carcinoma rs13376700-? of NONHSAT003179.2 is significantly associated with the renal cell carcinoma by using GWAS analysis in 10,784 european ancestry cases//20,406 european ancestry controls; 3,182 european ancestry cases//6,301 european ancestry controls(p-value = 5E-10 ;OR = 1.1046). 0.4 Genome-wide association study identifies multiple risk loci for renal cell carcinoma. genome-wide association analysis NONHSAT003179.2 lncRNA Renal cell cancer 0.33 ATGATCCCAG(T > A)TGAAGTACAG chr1: 51011971 0.5593,0.4407 0.51534626656472986,0.48465373343527013 Region score:0.25; TSS score:0.05; Unmatched score:0.01; Average GERP:0.0888163265306123 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000876 27424800 mir-4640 rs141558605 ? N/a Schizophrenias EFO_0000692 N/A Increasing risk Schizophrenia rs141558605-? of mir-4640 and its dysfunction is significantly associated with the increasing risk of Schizophrenia by using genome-wide association analysis in Schizophrenias. 0.4 Schizophrenia risk variants affecting microRNA function and site-specific regulation of NT5C2 by miR-206. genome-wide association analysis hsa-mir-4640 miRNA Schizophrenia 0.33 N/A N/A N/A N/A N/A N/A NCRV0000000877 22267201 NONHSAT160186.1 rs12294104 T N/A 38,968 european ancestry female individuals; up to 14,435 european ancestry female individuals EFO_0004704 N/A Associate Menopause (age at onset) rs12294104-T of NONHSAT160186.1 is significantly associated with the menopause (age at onset) by using GWAS analysis in 38,968 european ancestry female individuals; up to 14,435 european ancestry female individuals(p-value = 1E-11 ;OR = 0.225). 0.4 Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. genome-wide association analysis NONHSAT160186.1 lncRNA Age at menopause 0.33 CACACACACA(C > T)GAGAGCATGA chr11: 30361352 0.8928,0.1072 0.86691673037716615,0.13308326962283384 Region score:0.43; TSS score:0.37; Unmatched score:0.14; Average GERP:-1.3167524752475246 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000878 26763874 NONHSAT150323.1 rs1819043 ? N/A 4,183 korean ancestry male individuals//4,659 korean ancestry female individuals; 935 korean ancestry individuals EFO_0004820 N/A Associate Sex ratio rs1819043-? of NONHSAT150323.1 is significantly associated with the sex ratio by using GWAS analysis in 4,183 korean ancestry male individuals//4,659 korean ancestry female individuals; 935 korean ancestry individuals(p-value = 3E-46 ;OR = 1.72). 0.4 Genome-wide association study reveals sex-specific selection signals against autosomal nucleotide variants. genome-wide association analysis NONHSAT150323.1 lncRNA Sex ratio 0.33 TGTGTCTGAG(A > G)TAGCTTGACC chr1: 202462874 0.4601,0.5399 0.56666507390417940,0.43333492609582059 Region score:0.66; TSS score:0.59; Unmatched score:0.77; Average GERP:0.4633316831683168 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000383145; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PPP1R12B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000077157; TranscriptID:ENST00000391959; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000879 28314753 NONHSAT115190.2 rs2230926 G N/A 700 japanese ancestry cases//1,797 japanese ancestry controls//564 european ancestry cases//1,776 european ancestry controls; 564 japanese ancestry cases//1,863 japanese ancestry controls//2,592 european ancestry cases//9,315 european ancestry controls EFO_0000717 N/A Associate Systemic sclerosis rs2230926-G of NONHSAT115190.2 is significantly associated with the systemic sclerosis by using GWAS analysis in 700 japanese ancestry cases//1,797 japanese ancestry controls//564 european ancestry cases//1,776 european ancestry controls; 564 japanese ancestry cases//1,863 japanese ancestry controls//2,592 european ancestry cases//9,315 european ancestry controls(p-value = 2E-6 ;OR = 0.801). 0.4 Transethnic meta-analysis identifies GSDMA and PRDM1 as susceptibility genes to systemic sclerosis. genome-wide association analysis NONHSAT115190.2 lncRNA Systemic scleroderma 0.33 AAGGCGCTGT(T > C,G)CAGCACGCTC chr6: 137874929 0.8604,.,0.1396 0.86552306320081549,.,0.13447693679918450 Region score:0.29; TSS score:0.21; Unmatched score:0.57; Average GERP:3.5411920792079243 GeneName:TNFAIP3; CADD-Score:7; Consquence:missense; GeneID:ENSG00000118503; TranscriptID:ENST00000612899; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000880 27328823 mir-4521 rs76800617 G N/A 17,008 AD cases and 37,154 controls EFO_0000249 N/A increasing risk Alzheimer's disease rs76800617-G of hsa-mir-4521 and its dysfunction is significantly associated with the increasing risk of Alzheimers disease by using case-control analysis in 17,008 AD cases and 37,154 controls 0.4 Genome-wide identification of microRNA-related variants associated with risk of Alzheimer's disease. case-control analysis hsa-mir-4521 miRNA Alzheimers disease 0.33 TCAGTTTTGT(A > G)GCATCAAAAC chr17: 8186976 0.9916,0.008387 0.98779147553516819,0.01220852446483180 Region score:0.53; TSS score:0.35; Unmatched score:0.72; Average GERP:-2.0166138613861384 GeneName:AC129492.4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000266824; TranscriptID:ENST00000581248; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC129492.7; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000279152; TranscriptID:ENST00000622992; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:BORCS6; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000196544; TranscriptID:ENST00000389017; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR4521; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000283160; TranscriptID:ENST00000635897; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000090970; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000548711; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000881 19138993 mir631 rs5745925 delCT Dominant 346 Caucasian esophageal cancer patients (85.5% with esophageal adenocarcinoma) and 346 frequency-matched (age, gender, and ethnicity) controls EFO_0002916 N/A increasing risk esophageal cancer rs5745925-delCT of hsa-mir-631 and its dysfunction is significantly associated with the increasing risk of Esophageal carcinoma by using case-control analysis in 346 Caucasian esophageal cancer patients (85.5% with esophageal adenocarcinoma) and 346 frequency-matched (age, gender, and ethnicity) controls 0.4 Genetic variations in microRNA-related genes are novel susceptibility loci for esophageal cancer risk. case-control analysis hsa-mir-631 miRNA Esophageal carcinoma 0.33 GAGTGTGGCC(CCT > C)CTGACTCAGT chr15: 75353624 0.972,0.02796 0.94620444699286442,0.05379555300713557 - GeneName:MAN2C1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000140400; TranscriptID:ENST00000565683; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR631; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000284343; TranscriptID:ENST00000384904; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000521606; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NEIL1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000140398; TranscriptID:ENST00000355059; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000882 28360221 NONHSAT143364.2 rs9980 G N/A 45,889 european ancestry individuals//up to 8,765 asian indian ancestry individuals//up to 7,215 african ancestry individuals; 17,637 european ancestry individuals EFO_0007967 N/A Associate Blood osmolality (transformed sodium) rs9980-G of NONHSAT143364.2 is significantly associated with the blood osmolality (transformed sodium) by using GWAS analysis in 45,889 european ancestry individuals//up to 8,765 asian indian ancestry individuals//up to 7,215 african ancestry individuals; 17,637 european ancestry individuals(p-value = 6E-10 ;OR = 0.06). 0.4 NFAT5 and SLC4A10 Loci Associate with Plasma Osmolality. genome-wide association analysis NONHSAT143364.2 lncRNA Blood osmolality measurement 0.33 TTAATTAACT(C > G,T)GTGAAAGAAA chr16: 69703565 0.9163,0.08367,. 0.89844546381243628,0.10153860856269113,0.00001592762487257 Region score:0.44; TSS score:0.82; Unmatched score:0.66; Average GERP:1.1771099009900987 GeneName:AC012321.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000260772; TranscriptID:ENST00000561622; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0028; mirSVR-E:-8.83 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000540982; AnnoType:REGULATORY; mirSVR-Score:-0.0028; mirSVR-E:-8.83 | GeneName:NFAT5; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000102908; TranscriptID:ENST00000354436; AnnoType:3PRIME_UTR; mirSVR-Score:-0.0028; mirSVR-E:-8.83 | GeneName:NQO1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000181019; TranscriptID:ENST00000561500; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0028; mirSVR-E:-8.83 | NCRV0000000883 28277133 mir-126 rs4636297 A Dominant 157 endometriosis patients and 252 healthy women EFO_0001065 N/A decreased risk and better prognosis endometriosis rs4636297-A of hsa-mir-126 and its dysfunction is significantly associated with the decreasing risk and better prognosis of Endometriosis by using case-control analysis in 157 endometriosis patients and 252 healthy women 0.4 mir-126 rs4636297 and TGF灏綬I rs334348 functional gene variants are associated with susceptibility to endometriosis and its severity. case-control analysis hsa-mir-126 miRNA Endometriosis 0.33 CGCATCGAAA(A > G)CGCCGCTGAG chr9: 136670698 0.3057,0.6943 0.35495508409785932,0.64504491590214067 Region score:0.32; TSS score:0.31; Unmatched score:0.76; Average GERP:0.7106336633663374 GeneName:AGPAT2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000169692; TranscriptID:ENST00000371696; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:EGFL7; CADD-Score:2; Consquence:intron; GeneID:ENSG00000172889; TranscriptID:ENST00000371699; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR126; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000199161; TranscriptID:ENST00000362291; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000243058; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000338220; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000884 21844884 NONHSAT176807.1 rs7210837 ? N/A 176 sub-saharan african ancestry lymphoblastoid cell lines//83 african ancestry lymphoblastoid cell lines//175 east asian ancestry lymphoblastoid cell lines//174 european ancestry lymphoblastoid cell lines GO_0072718 platinum-based neoadjuvant chemotherapy Associate Response to platinum-based chemotherapy (cisplatin) rs7210837-? of NONHSAT176807.1 is significantly associated with the response to platinum-based chemotherapy (cisplatin) by using GWAS analysis in 176 sub-saharan african ancestry lymphoblastoid cell lines//83 african ancestry lymphoblastoid cell lines//175 east asian ancestry lymphoblastoid cell lines//174 european ancestry lymphoblastoid cell lines(p-value = 6E-7 ;OR = ?). 0.4 Genome-wide meta-analysis identifies variants associated with platinating agent susceptibility across populations. genome-wide association analysis NONHSAT176807.1 lncRNA Response to cisplatin 0.33 AGCCCCTACC(G > A)AGAAAGGAGC chr17: 16861664 0.776,0.224 0.80949764271151885,0.19050235728848114 Region score:0.24; TSS score:0.17; Unmatched score:0.13; Average GERP:-0.016405940594059403 GeneName:AC022596.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000283033; TranscriptID:ENST00000635352; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000885 23251661 NONHSAT206072.1 rs17668565 G N/A 815 hispanic children from 263 families EFO_0001073 N/A Associate Obesity-related traits rs17668565-G of NONHSAT206072.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 9E-6 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. genome-wide association analysis NONHSAT206072.1 lncRNA Obesity 0.33 TGACTAAGGC(T > A,C)TAAATTCCAA chr5: 92818872 0.6346,.,0.3654 0.55580243374108053,0.00001592762487257,0.44418163863404689 Region score:0.39; TSS score:0.34; Unmatched score:0.13; Average GERP:0.1944217821782178 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000886 27863252 NONHSAT167321.1 rs73579370 C N/A 171,643 european ancestry individuals EFO_0004587 N/A Associate Lymphocyte counts rs73579370-C of NONHSAT167321.1 is significantly associated with the lymphocyte counts by using GWAS analysis in 171,643 european ancestry individuals(p-value = 4E-10 ;OR = 0.02689215). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT167321.1 lncRNA Lymphocyte count 0.33 AGCACCGAGG(T > A,C,G)GGGGGCGCAG chr13: 113930357 0.7827,.,0.2173,. 0.75825847349643221,0.00000796381243628,0.24171763506625891,0.00001592762487257 Region score:0.25; TSS score:0.27; Unmatched score:0.2; Average GERP:-0.09893000000000007 GeneName:LINC00565; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000260910; TranscriptID:ENST00000562710; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000887 25514360 NONHSAT195506.1 rs3773445 ? N/A up to 4,108 european american cases EFO_0000341 N/A Associate Airway responsiveness in chronic obstructive pulmonary disease rs3773445-? of NONHSAT195506.1 is significantly associated with the airway responsiveness in chronic obstructive pulmonary disease by using GWAS analysis in up to 4,108 european american cases(p-value = 3E-6 ;OR = 1.2658228). 0.4 Genome-Wide Association Study Identification of Novel Loci Associated with Airway Responsiveness in Chronic Obstructive Pulmonary Disease. genome-wide association analysis NONHSAT195506.1 lncRNA Chronic obstructive pulmonary disease 0.33 AGGGGCGCCC(A > G)TGGAATCTGG chr3: 25571074 0.5236,0.4764 0.53699987257900101,0.46300012742099898 Region score:0.33; TSS score:0.28; Unmatched score:0.17; Average GERP:-0.9819475247524759 GeneName:RARB; CADD-Score:2; Consquence:intron; GeneID:ENSG00000077092; TranscriptID:ENST00000330688; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000888 21793975 miR-135a-2 hsa-mir-135a-2 Amplification - Dominant 48 medulloblastomas EFO_0002939 N/A Increasing risk Medulloblastomas Amplification of miR-135a-2 and its dysfunction is significantly associated with the increasing risk of medulloblastomas by using analysis of sequence variation in 48 medulloblastomas. 0.4 Genetic alterations in microRNAs in medulloblastomas. analysis of sequence variation; Function hsa-mir-135a-2 miRNA Medulloblastoma 0.33 N/A N/A N/A N/A N/A N/A NCRV0000000889 28598434 NONHSAT093252.2 rs234043 ? N/A 10,784 european ancestry cases//20,406 european ancestry controls; 3,182 european ancestry cases//6,301 european ancestry controls EFO_0000681 N/A Associate Renal cell carcinoma rs234043-? of NONHSAT093252.2 is significantly associated with the renal cell carcinoma by using GWAS analysis in 10,784 european ancestry cases//20,406 european ancestry controls; 3,182 european ancestry cases//6,301 european ancestry controls(p-value = 1E-7 ;OR = 1.0980564). 0.4 Genome-wide association study identifies multiple risk loci for renal cell carcinoma. genome-wide association analysis NONHSAT093252.2 lncRNA Renal cell cancer 0.33 TTCCCAGTAA(T > C)TACATGTTTT chr3: 172595577 0.2522,0.7478 0.26134046890927624,0.73865953109072375 Region score:0.46; TSS score:0.4; Unmatched score:0.93; Average GERP:-0.5965237623762377 GeneName:LINC02068; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000223387; TranscriptID:ENST00000418839; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000708891; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000890 26528553 NONHSAT010718.2 rs6413860 ? N/A 91 hutterite individuals EFO_0007753 N/A Associate Gut microbiome composition (summer) rs6413860-? of NONHSAT010718.2 is significantly associated with the gut microbiome composition (summer) by using GWAS analysis in 91 hutterite individuals(p-value = 2E-6 ;OR = 0.7517874). 0.4 Genome-Wide Association Studies of the Human Gut Microbiota. genome-wide association analysis NONHSAT010718.2 lncRNA Seasonal gut microbiome measurement 0.33 CGGAGGGCCG(A > G,T)CTTCCAGAAG chr1: 246689898 0.2624,0.7376,. 0.25564634301732925,0.74400324923547400,0.00035040774719673 Region score:0.42; TSS score:0.33; Unmatched score:0.8; Average GERP:-0.6698492079207922 GeneName:AL591848.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000235021; TranscriptID:ENST00000442712; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AL591848.3; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000260698; TranscriptID:ENST00000570141; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000023145; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000393100; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000891 29228715 NONHSAT195821.1 rs11539086 ? N/A 978 austrian ancestry cases//4,294 european ancestry controls EFO_0005842 N/A Associate Colorectal cancer rs11539086-? of NONHSAT195821.1 is significantly associated with the colorectal cancer by using GWAS analysis in 978 austrian ancestry cases//4,294 european ancestry controls(p-value = 9E-6 ;OR = 1.522). 0.4 Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas. genome-wide association analysis NONHSAT195821.1 lncRNA Colorectal cancer 0.33 AGCTCTCTCT(C > G)TTCGCTGGTC chr3: 58566602 0.8912,0.1088 0.88473974260958205,0.11526025739041794 Region score:0.5; TSS score:0.66; Unmatched score:0.8; Average GERP:0.5254950495049505 GeneName:FAM107A; CADD-Score:7; Consquence:missense; GeneID:ENSG00000168309; TranscriptID:ENST00000474531; AnnoType:NON_SYNONYMOUS; mirSVR-Score:-0.0615; mirSVR-E:-22.65 | NCRV0000000892 27723758 NONHSAT217625.1 rs11299600 ? N/A 1,635 european ancestry cases//4,852 european ancestry controls EFO_1001929 N/A Associate Selective iga deficiency rs11299600-? of NONHSAT217625.1 is significantly associated with the selective iga deficiency by using GWAS analysis in 1,635 european ancestry cases//4,852 european ancestry controls(p-value = 4E-11 ;OR = 1.369863). 0.4 Common variants at PVT1, ATG13-AMBRA1, AHI1 and CLEC16A are associated with selective IgA deficiency. genome-wide association analysis NONHSAT217625.1 lncRNA Selective iga deficiency disease 0.33 GATAGATTAA(TA > T)AATATGGTAG chr8: 128192326 0.6863,0.3137 0.70287015800203873,0.29712984199796126 N/A GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000869540; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000893 29773352 ANRIL rs1537378 G Recessive 200 atherothrombotic stroke cases and 205 controls EFO_1001976 N/A Increasing risk Atherothrombotic stroke rs1537378-G of ANRIL and its dysfunction is significantly associated with the increasing risk of atherothrombotic stroke by using case-control analysis in 200 atherothrombotic stroke cases and 205 controls. 0.4 The ANRIL Genetic Variants and Their Interactions with Environmental Risk Factors on Atherothrombotic Stroke in a Han Chinese Population. case-control analysis ANRIL lncRNA Cardioembolic stroke 0.33 TAGTAGTGCT(A > G)TGTTTAAAAG chr9: 22061615 0.1825,0.8175 0.25313774209989806,0.74686225790010193 Region score:0.22; TSS score:0.14; Unmatched score:0.1; Average GERP:-0.030379108910891125 GeneName:CDKN2B-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000240498; TranscriptID:ENST00000428597; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000894 27863252 NONHSAT081839.2 rs35542019 T N/A 172,952 european ancestry individuals EFO_0004305 N/A Associate Red blood cell count rs35542019-T of NONHSAT081839.2 is significantly associated with the red blood cell count by using GWAS analysis in 172,952 european ancestry individuals(p-value = 2E-11 ;OR = 0.02411232). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT081839.2 lncRNA Erythrocyte count 0.33 ATTGTGGCTT(TA > T)AAAAAAAAGT chr21: 33974554 0.4008,0.5992 0.42916985219164118,0.57083014780835881 N/A GeneName:LINC00649; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000237945; TranscriptID:ENST00000427447; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000895 28394258 NONHSAT220984.1 rs10820912 T N/A 30,201 european ancestry individuals EFO_0003777 N/A Associate Left atrial antero-posterior diameter rs10820912-T of NONHSAT220984.1 is significantly associated with the left atrial antero-posterior diameter by using GWAS analysis in 30,201 european ancestry individuals(p-value = 5E-6 ;OR = 0.0199). 0.4 Large-scale genome-wide analysis identifies genetic variants associated with cardiac structure and function. genome-wide association analysis NONHSAT220984.1 lncRNA Heart disease 0.33 GCCATGGGGA(G > T)TTGCTCTGAG chr9: 90113385 0.2985,0.7015 0.27549216360856269,0.72450783639143730 Region score:0.45; TSS score:0.49; Unmatched score:0.13; Average GERP:-0.9427089108910891 GeneName:AL161629.2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000278382; TranscriptID:ENST00000615347; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000896 28358873 NEAT1 chr11:65199075 - Dominant 278 prcc patients EFO_0000640 N/A Poor prognosis Papillary renal-cell carcinoma chr11:65199075 of NEAT1 and its dysfunction is significantly associated with the poor prognosis of papillary renal-cell carcinoma by using analysis of sequence variation in 278 pRCC patients . 0.4 Whole-genome analysis of papillary kidney cancer finds significant noncoding alterations. analysis of sequence variation NEAT1 lncRNA Papillary renal cell cancer 0.451 N/A N/A N/A N/A N/A N/A NCRV0000000896 28358873 NEAT1 chr11:65199075 ? Dominant 278 pRCC patients EFO_0000640 N/A poor prognosis papillary renal cell carcinoma chr11:65199075-? of NEAT1 and its dysfunction is significantly associated with the poor prognosis of Papillary renal cell carcinoma by using analysis of sequence variation in 278 pRCC patients 0.4 Whole-genome analysis of papillary kidney cancer finds significant noncoding alterations. analysis of sequence variation NEAT1 lncRNA Papillary renal cell carcinoma 0.451 - chr11:65199075 - - - - NCRV0000000897 24166409 NONHSAT186909.1 rs1437396 T N/A 2,415 african american cases//1,798 african american controls//2,669 european ancestry cases//2,002 european ancestry controls; 324 african american cases//327 african american controls//2,269 european ancestry cases//2,975 european ancestry controls EFO_0003829 N/A Associate Alcohol dependence rs1437396-T of NONHSAT186909.1 is significantly associated with the alcohol dependence by using GWAS analysis in 2,415 african american cases//1,798 african american controls//2,669 european ancestry cases//2,002 european ancestry controls; 324 african american cases//327 african american controls//2,269 european ancestry cases//2,975 european ancestry controls(p-value = 2E-6 ;OR = 1.56). 0.4 Genome-wide association study of alcohol dependence:significant findings in African- and European-Americans including novel risk loci. genome-wide association analysis NONHSAT186909.1 lncRNA Alcohol dependence 0.33 GTACATAAAA(C > G,T)GGAACTAAAA chr2: 55278320 0.7871,.,0.2129 0.79305237003058103,0.00000796381243628,0.20693966615698267 Region score:0.36; TSS score:0.38; Unmatched score:0.14; Average GERP:-0.06488019801980202 GeneName:AC012358.3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000240401; TranscriptID:ENST00000625718; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PRORSD1P; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000162997; TranscriptID:ENST00000563365; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000898 23273568 NONHSAT210400.1 rs9270984 T N/A 1,656 han chinese ancestry cases//3,394 han chinese ancestry controls; 3,256 han chinese ancestry cases//5,667 han chinese ancestry controls//453 thai ancestry cases//963 thai ancestry controls EFO_0002690 N/A Associate Systemic lupus erythematosus rs9270984-T of NONHSAT210400.1 is significantly associated with the systemic lupus erythematosus by using GWAS analysis in 1,656 han chinese ancestry cases//3,394 han chinese ancestry controls; 3,256 han chinese ancestry cases//5,667 han chinese ancestry controls//453 thai ancestry cases//963 thai ancestry controls(p-value = 5E-24 ;OR = 1.73). 0.4 Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians. genome-wide association analysis NONHSAT210400.1 lncRNA Systemic lupus erythematosus 0.33 CATAAAAAAA(T > A,G)GTTCATCAGT chr6: 32606214 0.1725,.,0.8275 0.04216042303771661,0.11240124872579001,0.84543832823649337 Region score:0.26; TSS score:0.15; Unmatched score:0.15; Average GERP:-0.2523926732673267 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000899 27225129 NONHSAT208796.1 rs7776010 ? N/A 405,072 european ancestry individuals EFO_0004784 N/A Associate Educational attainment (college completion) rs7776010-? of NONHSAT208796.1 is significantly associated with the educational attainment (college completion) by using GWAS analysis in 405,072 european ancestry individuals(p-value = 9E-9 ;OR = 1.0476757). 0.4 Genome-wide association study identifies 74 loci associated with educational attainment. genome-wide association analysis NONHSAT208796.1 lncRNA Self reported educational attainment 0.451 CACACACACA(T > C)GAGCCAGGTG chr6: 14723377 0.8255,0.1745 0.82794183231396534,0.17205816768603465 Region score:0.31; TSS score:0.23; Unmatched score:0.11; Average GERP:0.08419801980198025 GeneName:AL138720.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000234261; TranscriptID:ENST00000629853; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000899 27225129 NONHSAT208796.1 rs7776010 T N/A 405,072 european ancestry individuals EFO_0004784 N/A Associate Educational attainment (years of education) rs7776010-T of NONHSAT208796.1 is significantly associated with the educational attainment (years of education) by using GWAS analysis in 405,072 european ancestry individuals(p-value = 3E-12 ;OR = 0.021022316). 0.4 Genome-wide association study identifies 74 loci associated with educational attainment. genome-wide association analysis NONHSAT208796.1 lncRNA Self reported educational attainment 0.451 CACACACACA(T > C)GAGCCAGGTG chr6: 14723377 0.8255,0.1745 0.82794183231396534,0.17205816768603465 Region score:0.31; TSS score:0.23; Unmatched score:0.11; Average GERP:0.08419801980198025 GeneName:AL138720.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000234261; TranscriptID:ENST00000629853; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000900 27005778 NONHSAT220473.1 rs140348140 TA N/A 2,118 erasmus rucphen (founder/genetic isolate)//22,807 european ancestry individuals EFO_0004725 N/A Associate Metabolite levels (small molecules and protein measures) rs140348140-TA of NONHSAT220473.1 is significantly associated with the metabolite levels (small molecules and protein measures) by using GWAS analysis in 2,118 erasmus rucphen (founder/genetic isolate)//22,807 european ancestry individuals(p-value = 4E-40 ;OR = 0.33). 0.4 Genome-wide study for circulating metabolites identifies 62 loci and reveals novel systemic effects of LPA. genome-wide association analysis NONHSAT220473.1 lncRNA Metabolite measurement 0.33 TGGAAGGACC(T > TA)AAAAAAATAA chr9: 5877295 0.9814,0.01857 0.97215054791029561,0.02784945208970438 N/A GeneName:KIAA2026; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000183354; TranscriptID:ENST00000436015; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000901 18821565 NONHSAT213007.1 rs10227331 ? N/A 930 european ancestry trios GO_0007610 N/A Associate Inattentive symptoms rs10227331-? of NONHSAT213007.1 is significantly associated with the inattentive symptoms by using GWAS analysis in 930 european ancestry trios(p-value = 4E-6 ;OR = ?). 0.4 Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations. genome-wide association analysis NONHSAT213007.1 lncRNA Behavior 0.33 TGATCCCTGG(T > A)GGTCAAATGA chr7: 157502244 0.5929,0.4071 0.57842762487257900,0.42157237512742099 Region score:0.22; TSS score:0.25; Unmatched score:0.46; Average GERP:-0.5037423762376239 GeneName:AC006372.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000223872; TranscriptID:ENST00000449903; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC006372.3; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000234210; TranscriptID:ENST00000444158; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000902 20935630 NONHSAT054368.2 rs3764400 C N/A up to 123,865 european ancestry individuals; up to 125,931 european ancestry individuals EFO_0001073 N/A Associate Body mass index rs3764400-C of NONHSAT054368.2 is significantly associated with the body mass index by using GWAS analysis in up to 123,865 european ancestry individuals; up to 125,931 european ancestry individuals(p-value = 4E-7 ;OR = ?). 0.4 Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. genome-wide association analysis NONHSAT054368.2 lncRNA Obesity 0.33 CCGGGCCCAG(T > C)TCTATGTTTA chr17: 48046570 0.8409,0.1591 0.87759620285423037,0.12240379714576962 Region score:0.42; TSS score:0.41; Unmatched score:0.69; Average GERP:-0.27017267326732675 GeneName:AC004477.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000263412; TranscriptID:ENST00000578660; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000283610; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NFE2L1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000082641; TranscriptID:ENST00000362042; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000903 27182965 NONHSAT125201.2 rs767764 ? N/A 67,023 european ancestry individuals EFO_0007843 N/A Associate Nose size rs767764-? of NONHSAT125201.2 is significantly associated with the nose size by using GWAS analysis in 67,023 european ancestry individuals(p-value = 4E-7 ;OR = 0.025). 0.4 Detection and interpretation of shared genetic influences on 42 human traits. genome-wide association analysis NONHSAT125201.2 lncRNA Nose morphology measurement 0.33 TTGGAGAAAG(C > A,G)TCTGAAAAAA chr8: 13342301 0.723,.,0.277 0.78022266819571865,0.00001592762487257,0.21976140417940876 Region score:0.22; TSS score:0.09; Unmatched score:0.24; Average GERP:0.2436702970297028 GeneName:AC019270.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253932; TranscriptID:ENST00000523495; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:DLC1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000164741; TranscriptID:ENST00000276297; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000904 23342264 miR-142 chr17:56408667 G Dominant 56 dlbcl cases EFO_0000403 N/A Increasing risk Diffuse large b-cell lymphoma chr17:56408667-G of miR-142 and its dysfunction is significantly associated with the increasing risk of diffuse large B-cell lymphoma by using analysis of sequence variation in 56 DLBCL cases. 0.4 MicroRNA-142 is mutated in about 20% of diffuse large B-cell lymphoma. analysis of sequence variation hsa-mir-142 miRNA Diffuse large b-cell lymphoma 0.33 N/A N/A N/A N/A N/A N/A NCRV0000000905 25434007 MIR2682 rs543885789 T Dominant 2,610 sz cases and 2,611 controls of european ancestry EFO_0000692 N/A Increasing risk Schizophrenia rs543885789-T of MIR2682 and its dysfunction is significantly associated with the increasing risk of schizophrenia by using case-control analysis in 2,610 SZ cases and 2,611 controls of European ancestry. By using the disease cell lines or tissues, the interference and mutation of MIR2682 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 A rare functional noncoding variant at the GWAS-implicated MIR137/MIR2682 locus might confer risk to schizophrenia and bipolar disorder. case-control analysis; Function hsa-mir-2682 miRNA Schizophrenia 0.593 AAAGCTGCTA(A > G,T)GAAAATGGCT chr1: 98049983 N/A 0.99957791794087665,0.00000796381243628,0.00041411824668705 N/A GeneName:AC104453.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000285922; TranscriptID:ENST00000648602; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR137; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284202; TranscriptID:ENST00000385223; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR137HG; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000225206; TranscriptID:ENST00000634594; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR2682; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284247; TranscriptID:ENST00000580305; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000010436; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000906 21300955 NONHSAT206338.1 rs4705952 G N/A 63,678 european ancestry individuals 1,792 erasmus ruchpen individuals//715 orcadian individuals; 16,540 european ancestry individuals EFO_0000195 N/A Associate C-reactive protein levels rs4705952-G of NONHSAT206338.1 is significantly associated with the c-reactive protein levels by using GWAS analysis in 63,678 european ancestry individuals 1,792 erasmus ruchpen individuals//715 orcadian individuals; 16,540 european ancestry individuals(p-value = 1E-8 ;OR = 0.042). 0.4 Meta-analysis of genome-wide association studies in >80 000 subjects identifies multiple loci for C-reactive protein levels. genome-wide association analysis NONHSAT206338.1 lncRNA Metabolic syndrome 0.33 CTGCAGTGGG(G > A)CAAGTGTGGA chr5: 132503926 0.4651,0.5349 0.38590245922528032,0.61409754077471967 Region score:0.22; TSS score:0.14; Unmatched score:0.03; Average GERP:0.1707891089108911 GeneName:AC116366.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000283782; TranscriptID:ENST00000640655; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000907 21962133 mir-196a-2 rs11614913 T N/A 193 females diagnosed with breast cancer and 190 controls EFO_0000305 N/A no significance for risk breast carcinoma rs11614913-T of hsa-mir-196a-2 and its dysfunction is not significantly associated with Breast carcinoma by using case-control analysis in 193 females diagnosed with breast cancer and 190 controls -0.4 Single nucleotide polymorphism in hsa-mir-196a-2 and breast cancer risk: a case control study. case-control analysis hsa-mir-196a-2 miRNA Breast carcinoma 0.729 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000907 19567675 miR-196a-2 rs11614913 T recessive 441 cases and 479 controls EFO_0000305 N/A decreasing risk breast carcinoma rs11614913-T of hsa-mir-196a-2 and its dysfunction is significantly associated with the decreasing risk of Breast carcinoma by using case-control analysis in 441 cases and 479 controls 1.4 microRNA miR-196a-2 and breast cancer: a genetic and epigenetic association study and functional analysis. case-control analysis hsa-mir-196a-2 miRNA Breast carcinoma 0.729 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000907 26125831 miR-196a2 rs11614913 C Dominant 321 breast cancer patients and 290 controls in the chinese population EFO_0000305 N/A Increasing risk Breast cancer rs11614913-C of miR-196a2 and its dysfunction is significantly associated with the increasing risk of breast cancer by using case-control analysis in 321 breast cancer patients and 290 controls in the Chinese population. 0.4 Associations of miRNA polymorphisms and expression levels with breast cancer risk in the Chinese population. case-control analysis hsa-mir-196a-2 miRNA Breast cancer 0.729 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000907 20640596 miR-196a2 rs11614913 C Dominant 3,287 cases and 4,298 controls EFO_0000305 N/A Increasing risk Breast cancer rs11614913-C of miR-196a2 and its dysfunction is significantly associated with the increasing risk of breast cancer by using meta-analysis in 3,287 cases and 4,298 controls. 0.4 The association between two polymorphisms in pre-miRNAs and breast cancer risk: a meta-analysis. meta-analysis hsa-mir-196a-2 miRNA Breast cancer 0.729 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000907 22952151 miR-196a2 rs11614913 T Dominant 5 studies involving 26,018 subjects EFO_0000305 N/A Decreasing risk Breast carcinoma rs11614913-T of miR-196a2 and its dysfunction is significantly associated with the decreasing risk of breast carcinoma by using Pedigree analysis in 5 studies involving 26,018 subjects. 0.4 The association of miR-146a rs2910164 and miR-196a2 rs11614913 polymorphisms with cancer risk: a meta-analysis of 32 studies. Pedigree analysis hsa-mir-196a-2 miRNA Breast cancer 0.729 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000907 27421647 pre-miR-196a2 rs11614913 T N/A 440 breast cancer cases and 807 controls EFO_0000305 N/A no significance for risk breast carcinoma rs11614913-T of hsa-mir-196a-2 and its dysfunction is not significantly associated with Breast carcinoma by using case-control analysis in 440 breast cancer cases and 807 controls -0.4 Association of single nucleotide polymorphisms in Pre-miR-27a, Pre-miR-196a2, Pre-miR-423, miR-608 and Pre-miR-618 with breast cancer susceptibility in a South American population. case-control analysis hsa-mir-196a-2 miRNA Breast carcinoma 0.729 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000907 18634034 mir-196a2 rs11614913 C recessive 1,009 breast cancer cases and 1,093 cancer-free controls EFO_0000305 N/A increasing risk breast carcinoma rs11614913-C of hsa-mir-196a-2 and its dysfunction is significantly associated with the increasing risk of Breast carcinoma by using case-control analysis in 1,009 breast cancer cases and 1,093 cancer-free controls 0.4 Common genetic variants in pre-microRNAs were associated with increased risk of breast cancer in Chinese women. case-control analysis hsa-mir-196a-2 miRNA Breast carcinoma 0.729 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000907 26710106 MIR 196A2 rs11614913 T N/a 114 paired samples (tumor and normal tissues) from breast cancer patients EFO_0000305 N/A Increasing risk Breast cancer rs11614913-T of MIR 196A2 and its dysfunction is significantly associated with the increasing risk of Breast Cancer by using case-control analysis in 114 paired samples (tumor and normal tissues) from breast cancer patients . 0.4 Somatic Mutation of the SNP rs11614913 and Its Association with Increased MIR 196A2 Expression in Breast Cancer. case-control analysis hsa-mir-196a-2 miRNA Breast cancer 0.729 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000907 26886638 miR-196a2 rs11614913 T Dominant 1143 subjects (controls = 583; breast cancer = 560) EFO_0000305 N/A Decreasing risk Breast cancer rs11614913-T of miR-196a2 and its dysfunction is significantly associated with the decreasing risk of breast cancer by using case-control analysis in 1143 subjects (controls = 583; breast cancer = 560). 0.4 The Associations of Single Nucleotide Polymorphisms in miR196a2, miR-499, and miR-608 With Breast Cancer Susceptibility: A STROBE-Compliant Observational Study. case-control analysis hsa-mir-196a-2 miRNA Breast cancer 0.729 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000907 24521023 miR-196a2 rs11614913 T N/A 236 patients with breast cancer and 203 healthy individuals. EFO_0000305 N/A no significance for risk breast carcinoma rs11614913-T of hsa-mir-196a-2 and its dysfunction is not significantly associated with Breast carcinoma by using case-control analysis in 236 patients with breast cancer and 203 healthy individuals. -0.4 hsa-mir-499 rs3746444 gene polymorphism is associated with susceptibility to breast cancer in an Iranian population. case-control analysis hsa-mir-196a-2 miRNA Breast carcinoma 0.729 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000908 20541252 NONHSAT018142.2 rs10741657 ? N/A 16,125 european ancestry individuals; 17,871 european ancestry individuals EFO_0003762 N/A Associate Vitamin d insufficiency rs10741657-? of NONHSAT018142.2 is significantly associated with the vitamin d insufficiency by using GWAS analysis in 16,125 european ancestry individuals; 17,871 european ancestry individuals(p-value = 3E-20 ;OR = ?). 0.4 Common genetic determinants of vitamin D insufficiency: a genome-wide association study. genome-wide association analysis NONHSAT018142.2 lncRNA Vitamin d deficiency 0.33 TTTAGCAGGC(A > G)AGGGCTGTCA chr11: 14893332 0.3077,0.6923 0.34019017584097859,0.65980982415902140 Region score:0.36; TSS score:0.37; Unmatched score:0.62; Average GERP:0.018816732673267385 GeneName:CYP2R1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000186104; TranscriptID:ENST00000334636; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000909 29058716 NONHSAT215675.1 rs13365225 A N/A 14,135 european ancestry cases//58,126 european ancestry controls; 7,333 european ancestry cases//42,468 european ancestry controls EFO_1000650 N/A Associate Breast cancer (estrogen-receptor negative) rs13365225-A of NONHSAT215675.1 is significantly associated with the breast cancer (estrogen-receptor negative) by using GWAS analysis in 14,135 european ancestry cases//58,126 european ancestry controls; 7,333 european ancestry cases//42,468 european ancestry controls(p-value = 1E-10 ;OR = 1.1111112). 0.4 Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer. genome-wide association analysis NONHSAT215675.1 lncRNA Estrogen-receptor negative breast cancer 0.33 GTAATTCTGA(A > G)AAAACGAGGG chr8: 37000965 0.7065,0.2935 0.73473337155963302,0.26526662844036697 Region score:0.55; TSS score:0.66; Unmatched score:0.31; Average GERP:1.162762376237624 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000910 23251661 NONHSAT220213.1 rs11539570 A N/A 815 hispanic children from 263 families EFO_0001073 N/A Associate Obesity-related traits rs11539570-A of NONHSAT220213.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 7E-6 ;OR = 0.02). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. genome-wide association analysis NONHSAT220213.1 lncRNA Obesity 0.33 TCCATTTTAG(C > A,T)CCCGGGGGCT chr9: 128322349 N/A 0.98768794597349643,0.00957250254841997,0.00273955147808358 Region score:0.5; TSS score:0.41; Unmatched score:0.95; Average GERP:2.4006673267326732 GeneName:COQ4; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000167113; TranscriptID:ENST00000300452; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000241858; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TRUB2; CADD-Score:5; Consquence:synonymous; GeneID:ENSG00000167112; TranscriptID:ENST00000372890; AnnoType:SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000911 26198764 NONHSAT156535.1 rs17731 A N/A 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls EFO_0000692 N/A Associate Schizophrenia rs17731-A of NONHSAT156535.1 is significantly associated with the schizophrenia by using GWAS analysis in 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls(p-value = 2E-6 ;OR = 1.05). 0.4 Genome-wide association study of schizophrenia in Ashkenazi Jews. genome-wide association analysis NONHSAT156535.1 lncRNA Schizophrenia 0.33 GTGCTATGCC(G > A,C)CTTCTTACAG chr10: 3779369 0.7294,0.2706,. 0.71965787461773700,0.28017488532110091,0.00016724006116207 Region score:0.41; TSS score:0.53; Unmatched score:0.78; Average GERP:2.492039603960397 GeneName:KLF6; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000067082; TranscriptID:ENST00000497571; AnnoType:3PRIME_UTR; mirSVR-Score:-0.0661; mirSVR-E:-16.62 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000394293; AnnoType:REGULATORY; mirSVR-Score:-0.0661; mirSVR-E:-16.62 | NCRV0000000912 28181694 NONHSAT078943.2 rs8115445 G N/A 488 european ancestry female children//445 european ancestry male children; 245 european ancestry female children//241 european ancestry male children EFO_0007621 N/A Associate Pediatric bone mineral content (radius) rs8115445-G of NONHSAT078943.2 is significantly associated with the pediatric bone mineral content (radius) by using GWAS analysis in 488 european ancestry female children//445 european ancestry male children; 245 european ancestry female children//241 european ancestry male children(p-value = 2E-6 ;OR = 0.255737). 0.4 A Genomewide Association Study Identifies Two Sex-Specific Loci, at SPTB and IZUMO3, Influencing Pediatric Bone Mineral Density at Multiple Skeletal Sites. genome-wide association analysis NONHSAT078943.2 lncRNA Bone mineral content measurement 0.33 TGGGCCCAGC(A > G)CCCTCCTGCT chr20: 21503401 0.8285,0.1715 0.85629300458715596,0.14370699541284403 Region score:0.44; TSS score:0.42; Unmatched score:0.41; Average GERP:-0.8164534653465353 GeneName:AL133325.3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000278041; TranscriptID:ENST00000622757; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GSTM3P1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000227693; TranscriptID:ENST00000447621; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000913 21886157 NONHSAT143240.2 rs6499165 A N/A 2,820 european ancestry individuals EFO_0004725 N/A Associate Metabolic traits rs6499165-A of NONHSAT143240.2 is significantly associated with the metabolic traits by using GWAS analysis in 2,820 european ancestry individuals(p-value = 1E-18 ;OR = 0.11). 0.4 Human metabolic individuality in biomedical and pharmaceutical research. genome-wide association analysis NONHSAT143240.2 lncRNA Metabolite measurement 0.33 CCTGTTGTTG(A > C)AGAGGAAGGA chr16: 68292297 0.1783,0.8217 0.19244552752293577,0.80755447247706422 Region score:0.3; TSS score:0.11; Unmatched score:0.08; Average GERP:-0.00810693069306928 GeneName:AC020978.9; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000279649; TranscriptID:ENST00000623181; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SLC7A6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000103064; TranscriptID:ENST00000566454; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SLC7A6OS; CADD-Score:2; Consquence:intron,NMD; GeneID:ENSG00000103061; TranscriptID:ENST00000568315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000914 21184583 NONHSAT189057.1 rs13831 T N/A 431 european ancestry alcohol dependence cases//340 european ancestry controls//209 african american alcohol dependence cases//84 african american controls; 683 alcohol dependence cases and 412 controls from multiplex families EFO_0004358 N/A Associate Event-related brain oscillations rs13831-T of NONHSAT189057.1 is significantly associated with the event-related brain oscillations by using GWAS analysis in 431 european ancestry alcohol dependence cases//340 european ancestry controls//209 african american alcohol dependence cases//84 african american controls; 683 alcohol dependence cases and 412 controls from multiplex families(p-value = 6E-6 ;OR = 0.21). 0.4 Genome-wide association study of theta band event-related oscillations identifies serotonin receptor gene HTR7 influencing risk of alcohol dependence. genome-wide association analysis NONHSAT189057.1 lncRNA Event-related brain oscillation 0.33 ACGAAAAATG(A > G)ACTGAAATCC chr20: 58900136 0.2027,0.7973 0.22194348878695208,0.77805651121304791 Region score:0.58; TSS score:0.43; Unmatched score:0.61; Average GERP:-0.22879306930693055 GeneName:GNAS; CADD-Score:2; Consquence:intron; GeneID:ENSG00000087460; TranscriptID:ENST00000371100; AnnoType:INTRONIC; mirSVR-Score:-1.1504; mirSVR-E:-10.45 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000656271; AnnoType:REGULATORY; mirSVR-Score:-1.1504; mirSVR-E:-10.45 | NCRV0000000915 22778062 SNORA18 rs75598211 G N/A N/A function N/A not significant changes in the structure function rs75598211-G of SNORA18 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in nan -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORA18 snoRNA function -0.049 - - - - - - NCRV0000000916 27965458 HOTAIR rs1899663 T N/A 11 case-control studies EFO_0000311 N/A no significance for risk cancer rs1899663-T of HOTAIR and its dysfunction is not significantly associated with Cancer by using meta-analysis in 11 case-control studies -0.4 Association between the HOTAIR polymorphisms and cancer risk: an updated meta-analysis. meta-analysis HOTAIR lncRNA Cancer -0.52 TTGTTGTCAC(C > A)TCCACCCTCC chr12: 53967210 0.7462,0.2538 0.72418132008154943,0.27581867991845056 Region score:0.22; TSS score:0.34; Unmatched score:0.86; Average GERP:-0.48725445544554463 GeneName:AC012531.4; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000274817; TranscriptID:ENST00000616509; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC012531.5; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277129; TranscriptID:ENST00000611375; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOTAIR; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000228630; TranscriptID:ENST00000424518; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000458643; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01905; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000275589; TranscriptID:ENST00000611210; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01906; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000277994; TranscriptID:ENST00000611352; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000916 28159929 HOTAIR rs1899663 T N/a Several case-control studies EFO_0000311 N/A No significance for risk Cancer rs1899663-T of HOTAIR and its dysfunction is not significantly associated with cancer by using meta-analysis in several case-control studies. -0.4 The HOTAIR, PRNCR1 and POLR2E polymorphisms are associated with cancer risk: a meta-analysis. meta-analysis HOTAIR lncRNA Cancer -0.52 TTGTTGTCAC(C > A)TCCACCCTCC chr12: 53967210 0.7462,0.2538 0.72418132008154943,0.27581867991845056 Region score:0.22; TSS score:0.34; Unmatched score:0.86; Average GERP:-0.48725445544554463 GeneName:AC012531.4; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000274817; TranscriptID:ENST00000616509; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC012531.5; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277129; TranscriptID:ENST00000611375; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOTAIR; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000228630; TranscriptID:ENST00000424518; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000458643; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01905; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000275589; TranscriptID:ENST00000611210; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01906; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000277994; TranscriptID:ENST00000611352; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000916 27010768 HOTAIR rs1899663 T N/a 7,151 cases and 8,740 controls EFO_0000311 N/A No significance for risk Cancer rs1899663-T of HOTAIR and its dysfunction is not significantly associated with cancer by using meta-analysis in 7,151 cases and 8,740 controls. -0.4 Quantitative Assessment of the Polymorphisms in the HOTAIR lncRNA and Cancer Risk: A Meta-Analysis of 8 Case-Control Studies. meta-analysis HOTAIR lncRNA Cancer -0.52 TTGTTGTCAC(C > A)TCCACCCTCC chr12: 53967210 0.7462,0.2538 0.72418132008154943,0.27581867991845056 Region score:0.22; TSS score:0.34; Unmatched score:0.86; Average GERP:-0.48725445544554463 GeneName:AC012531.4; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000274817; TranscriptID:ENST00000616509; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC012531.5; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277129; TranscriptID:ENST00000611375; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOTAIR; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000228630; TranscriptID:ENST00000424518; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000458643; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01905; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000275589; TranscriptID:ENST00000611210; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01906; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000277994; TranscriptID:ENST00000611352; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000917 26634245 NONHSAT206674.1 rs187885921 C N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs187885921-C of NONHSAT206674.1 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 5E-6 ;OR = 1.821). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT206674.1 lncRNA Pulmonary function measurement 0.33 GGCAGGACCT(G > C)CCTCCCAGCA chr6: 3894081 N/A 0 Region score:0.37; TSS score:0.23; Unmatched score:0.61; Average GERP:-1.601344158415842 GeneName:AL391422.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000233068; TranscriptID:ENST00000648025; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000781402; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000918 22993228 NONHSAT210405.1 rs10046257 A N/A 4,683 european ancestry individuals EFO_0004994 N/A Associate Disc degeneration (lumbar) rs10046257-A of NONHSAT210405.1 is significantly associated with the disc degeneration (lumbar) by using GWAS analysis in 4,683 european ancestry individuals(p-value = 3E-7 ;OR = 0.19). 0.4 Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects. genome-wide association analysis NONHSAT210405.1 lncRNA Lumbar disc degeneration 0.33 GTGACTAATG(G > A)GCAACACAGG chr6: 32886920 0.8289,0.1711 0.84613117991845056,0.15386882008154943 Region score:0.38; TSS score:0.41; Unmatched score:0.24; Average GERP:0.11945534653465346 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000787996; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000787997; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000919 21658281 NONHSAT184639.1 rs1559040 ? N/A 88 european ancestry cases//517 european ancestry controls EFO_0004278 N/A Associate Sudden cardiac arrest rs1559040-? of NONHSAT184639.1 is significantly associated with the sudden cardiac arrest by using GWAS analysis in 88 european ancestry cases//517 european ancestry controls(p-value = 4E-8 ;OR = 1.54). 0.4 GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease. genome-wide association analysis NONHSAT184639.1 lncRNA Sudden cardiac arrest 0.33 GAAATCTCCA(C > T)GGCTAGTGGC chr2: 54120613 0.9279,0.07208 0.88951006625891946,0.11048993374108053 Region score:0.21; TSS score:0.07; Unmatched score:0.05; Average GERP:0.05068316831683152 GeneName:ACYP2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000170634; TranscriptID:ENST00000607452; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000920 28476931 NONHSAT166150.1 rs72637434 A N/A 419 pima indian ancestry individuals EFO_0005109 N/A Associate Energy expenditure (24h) rs72637434-A of NONHSAT166150.1 is significantly associated with the energy expenditure (24h) by using GWAS analysis in 419 pima indian ancestry individuals(p-value = 4E-6 ;OR = 69.783646). 0.4 A Genome-Wide Association Study Using a Custom Genotyping Array Identifies Variants in GPR158 Associated With Reduced Energy Expenditure in American Indians. genome-wide association analysis NONHSAT166150.1 lncRNA Energy expenditure 0.33 GAGCATTAAG(G > A)TGATGAGTTT chr13: 97202346 0.9868,0.01318 0.99063455657492354,0.00936544342507645 Region score:0.38; TSS score:0.21; Unmatched score:0.03; Average GERP:-1.10730198019802 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000921 25130324 NONHSAT186576.1 rs11885103 A N/A 1,778 european ancestry individuals//1,276 individuals EFO_0005852 N/A Associate Heschl's gyrus morphology rs11885103-A of NONHSAT186576.1 is significantly associated with the heschl's gyrus morphology by using GWAS analysis in 1,778 european ancestry individuals//1,276 individuals(p-value = 2E-6 ;OR = 9.74). 0.4 A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus. genome-wide association analysis NONHSAT186576.1 lncRNA Heschl's gyrus morphology measurement 0.33 AGGCCTGGGC(T > A,C)GGGCCGGGAG chr2: 594366 0.4285,0.5715,. 0.50751783893985728,0.49246623343527013,0.00001592762487257 Region score:0.25; TSS score:0.24; Unmatched score:0.13; Average GERP:-1.0202039603960396 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000922 22864933 NONHSAT182531.1 rs4848143 ? N/A up to 84 east asian ancestry lymphoblastoid cell lines//up to 164 european ancestry lymphoblastoid cell lines//up to 173 african ancestry lymphoblastoid cell lines//up to 82 african american lymphoblastoid cell lines GO_0097327 N/A Associate Capecitabine sensitivity rs4848143-? of NONHSAT182531.1 is significantly associated with the capecitabine sensitivity by using GWAS analysis in up to 84 east asian ancestry lymphoblastoid cell lines//up to 164 european ancestry lymphoblastoid cell lines//up to 173 african ancestry lymphoblastoid cell lines//up to 82 african american lymphoblastoid cell lines(p-value = 9E-6 ;OR = ?). 0.4 Identification of novel germline polymorphisms governing capecitabine sensitivity. genome-wide association analysis NONHSAT182531.1 lncRNA Response to antineoplastic agent 0.33 AGACCATGGA(A > G)TCTGTGAAAG chr2: 121054648 0.5735,0.4265 0.50374299184505606,0.49625700815494393 Region score:0.38; TSS score:0.17; Unmatched score:0.08; Average GERP:0.06720000000000005 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000923 27636879 MIR4669 rs35196866 A N/a 899 individuals with crcs categorized by clinical subtypes and in 204 controls EFO_0005842 N/A Increasing risk Colorectal cancer rs35196866-A of MIR4669 and its dysfunction is significantly associated with the increasing risk of colorectal cancer by using case-control analysis in 899 individuals with CRCs categorized by clinical subtypes and in 204 controls. 0.4 Germline miRNA DNA variants and the risk of colorectal cancer by subtype. case-control analysis hsa-mir-4669 miRNA Colorectal cancer 0.33 TGGAGGAGGG(C > A)CCCCAGGACC chr9: 134379472 0.3962,0.6038 0.35602223496432212,0.64397776503567787 Region score:0.32; TSS score:0.26; Unmatched score:0.53; Average GERP:-0.7038465346534659 GeneName:MIR4669; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000263897; TranscriptID:ENST00000585099; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RXRA; CADD-Score:2; Consquence:intron; GeneID:ENSG00000186350; TranscriptID:ENST00000481739; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000924 24529757 NONHSAT219120.1 rs16938145 ? N/A 250 han chinese ancestry cases//250 han chinese ancestry controls EFO_0001357 N/A Associate Amyotrophic lateral sclerosis (sporadic) rs16938145-? of NONHSAT219120.1 is significantly associated with the amyotrophic lateral sclerosis (sporadic) by using GWAS analysis in 250 han chinese ancestry cases//250 han chinese ancestry controls(p-value = 1E-6 ;OR = ?). 0.4 Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations. genome-wide association analysis NONHSAT219120.1 lncRNA Sporadic amyotrophic lateral sclerosis 0.33 TCCCATAGTC(T > C,G)TTCTCACCCC chr9: 2256092 0.7706,0.2294,. 0.78677688583078491,0.21321515035677879,0.00000796381243628 Region score:0.24; TSS score:0.28; Unmatched score:0.04; Average GERP:-0.6934564356435644 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000925 22993228 NONHSAT210405.1 rs6457690 A N/A 4,683 european ancestry individuals EFO_0004994 N/A Associate Disc degeneration (lumbar) rs6457690-A of NONHSAT210405.1 is significantly associated with the disc degeneration (lumbar) by using GWAS analysis in 4,683 european ancestry individuals(p-value = 9E-8 ;OR = 0.19). 0.4 Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects. genome-wide association analysis NONHSAT210405.1 lncRNA Lumbar disc degeneration 0.33 CTAAAAATGA(G > A)GTTCTTGTGT chr6: 32887940 0.8524,0.1476 0.86347636340468909,0.13652363659531090 Region score:0.2; TSS score:0.14; Unmatched score:0.12; Average GERP:0.022735643564356388 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000926 23251661 NONHSAT167691.1 rs2593525 C N/A 815 hispanic children from 263 families EFO_0004612 N/A Associate Obesity-related traits rs2593525-C of NONHSAT167691.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 2E-6 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. genome-wide association analysis NONHSAT167691.1 lncRNA High density lipoprotein cholesterol measurement 0.33 ACATAATTCT(C > A)TGAGCAAAAG chr13: 69345267 0.01558,0.9844 0.01591966106014271,0.98408033893985728 Region score:0.25; TSS score:0.11; Unmatched score:0.01; Average GERP:-0.19897128712871295 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000927 26053186 NONHSAT194186.1 rs189894228 ? N/A 361 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//440 european ancestry current smoker individuals//452 latino current smoker individuals//702 japanese ancestry current smoker individuals EFO_0001071 in smokers Associate 3-hydroxy-1-methylpropylmercapturic acid levels in smokers rs189894228-? of NONHSAT194186.1 is significantly associated with the 3-hydroxy-1-methylpropylmercapturic acid levels in smokers by using GWAS analysis in 361 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//440 european ancestry current smoker individuals//452 latino current smoker individuals//702 japanese ancestry current smoker individuals(p-value = 1E-6 ;OR = 1.0929). 0.4 Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer. genome-wide association analysis NONHSAT194186.1 lncRNA Lung cancer 0.33 CATAGGCCTC(A > G)GGGCTCTCCA chr3: 90405245 0.991,0.008986 0.99745158002038735,0.00254841997961264 Region score:0.34; TSS score:0.11; Unmatched score:0.02; Average GERP:0 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000928 27863252 NONHSAT163205.1 rs12820863 T N/A 171,771 european ancestry individuals EFO_0009389 N/A Associate Sum eosinophil basophil counts rs12820863-T of NONHSAT163205.1 is significantly associated with the sum eosinophil basophil counts by using GWAS analysis in 171,771 european ancestry individuals(p-value = 9E-11 ;OR = 0.02513112). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT163205.1 lncRNA Sum of eosinophil and basophil counts 0.33 CTGTTGCTGT(C > T)GCTGCTCCTT chr12: 4209557 0.751,0.249 0.73048865953109072,0.26951134046890927 Region score:0.41; TSS score:0.4; Unmatched score:0.19; Average GERP:-1.1639275247524756 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000929 28394258 NONHSAT184590.1 rs1447563 C N/A 21,852 european ancestry individuals; 14,787 european ancestry individuals EFO_0008204 N/A Associate Peak velocity of the mitral a-wave rs1447563-C of NONHSAT184590.1 is significantly associated with the peak velocity of the mitral a-wave by using GWAS analysis in 21,852 european ancestry individuals; 14,787 european ancestry individuals(p-value = 3E-7 ;OR = 0.586). 0.4 Large-scale genome-wide analysis identifies genetic variants associated with cardiac structure and function. genome-wide association analysis NONHSAT184590.1 lncRNA Left ventricular diastolic function measurement 0.33 CAGCCTGACA(A > C)GATTTTTTCT chr2: 46410225 0.7306,0.2694 0.65248311671763506,0.34751688328236493 Region score:0.31; TSS score:0.29; Unmatched score:0.23; Average GERP:-0.21577623762376213 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000116637; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000930 24380734 miR-27a rs895819 T Dominant 103 cervical cancer cases and 417 cancer-free female subjects EFO_0001061 N/A Decreasing risk Cervical cancer rs895819-T of miR-27a and its dysfunction is significantly associated with the decreasing risk of cervical cancer by using case-control analysis in 103 cervical cancer cases and 417 cancer-free female subjects. 0.4 A genetic variant in pre-miR-27a is associated with a reduced cervical cancer risk in southern Chinese women. case-control analysis hsa-mir-27a miRNA Cervical cancer 0.33 CACGACTTGG(T > C)GTGGACCCTG chr19: 13836478 0.6362,0.3638 0.63091711264016309,0.36908288735983690 Region score:0.57; TSS score:0.41; Unmatched score:0.75; Average GERP:2.158386138613861 GeneName:AC020916.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000267519; TranscriptID:ENST00000587762; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR23A; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207980; TranscriptID:ENST00000385245; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR24-2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284387; TranscriptID:ENST00000386972; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR27A; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207808; TranscriptID:ENST00000385073; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000107447; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ZSWIM4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000132003; TranscriptID:ENST00000254323; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000931 26634245 NONHSAT204114.1 rs114955764 A N/A 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio in copd rs114955764-A of NONHSAT204114.1 is significantly associated with the post bronchodilator fev1/fvc ratio in copd by using GWAS analysis in 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases(p-value = 1E-6 ;OR = 0.075). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT204114.1 lncRNA Pulmonary function measurement 0.33 GGCAGATACA(G > A)TTCAGTCTCT chr5: 43588739 0.989,0.01098 0.98912939602446483,0.01087060397553516 Region score:0.58; TSS score:0.28; Unmatched score:0.7; Average GERP:0.9777762376237622 GeneName:AC010435.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000279557; TranscriptID:ENST00000623353; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AMD1P3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000249286; TranscriptID:ENST00000508874; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NNT-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000248092; TranscriptID:ENST00000513560; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000932 27027436 H19 rs2735971 C Dominant 1,147 patients with colorectal cancer and 1,203 cancer-free controls. in a chinese population. EFO_0005842 N/A No significance for risk Colorectal cancer rs2735971-C of H19 and its dysfunction is not significantly associated with colorectal cancer by using case-control analysis in 1,147 patients with colorectal cancer and 1,203 cancer-free controls. in a Chinese population -0.4 Association of genetic variants in lncRNA H19 with risk of colorectal cancer in a Chinese population. case-control analysis H19 lncRNA Colorectal cancer -0.33 CAACCAATTC(T > C)GTGCCATCCG chr11: 2000419 N/A 1 Region score:0.26; TSS score:0.43; Unmatched score:0.52; Average GERP:-1.624039603960396 GeneName:H19; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000130600; TranscriptID:ENST00000414790; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR675; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284010; TranscriptID:ENST00000390168; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000262400; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000421500; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01972; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000275266; TranscriptID:ENST00000617997; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01973; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000274866; TranscriptID:ENST00000620857; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000933 28577822 NONHSAT034250.2 rs9564655 ? N/A 310 european ancestry alzheimer's disease individuals//511 european ancestry individuals with late mild cognitive impairment//280 european ancestry individuals with early mild cognitive impairment//94 european ancestry individuals with significant memory concern//365 european ancestry individuals with normal cognition EFO_0004333 N/A Associate Language performance in older adults (adjusted for episodic memory) rs9564655-? of NONHSAT034250.2 is significantly associated with the language performance in older adults (adjusted for episodic memory) by using GWAS analysis in 310 european ancestry alzheimer's disease individuals//511 european ancestry individuals with late mild cognitive impairment//280 european ancestry individuals with early mild cognitive impairment//94 european ancestry individuals with significant memory concern//365 european ancestry individuals with normal cognition(p-value = 2E-6 ;OR = 0.3). 0.4 Genome-wide association study of language performance in Alzheimer's disease. genome-wide association analysis NONHSAT034250.2 lncRNA Episodic memory 0.33 TGGTCACAAA(C > T)TCCTGACCTC chr13: 70129083 0.8454,0.1546 0.85126783893985728,0.14873216106014271 Region score:0.16; TSS score:0.15; Unmatched score:0.08; Average GERP:0.04363366336633663 GeneName:ATXN8OS; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000230223; TranscriptID:ENST00000424524; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000934 27989323 NONHSAT216850.1 rs13278062 G N/A 8,186 finnish ancestry individuals EFO_0005140 N/A Associate Trail levels rs13278062-G of NONHSAT216850.1 is significantly associated with the trail levels by using GWAS analysis in 8,186 finnish ancestry individuals(p-value = 4E-7 ;OR = 0.0801). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. genome-wide association analysis NONHSAT216850.1 lncRNA Autoimmune disease 0.33 CGTCACTACC(G > A,C,T)GGCGAGTGAT chr8: 23225458 0.5992,.,.,0.4008 0.59008664627930682,0.00003981906218144,0.00001592762487257,0.40985760703363914 N/A GeneName:AC100861.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000246582; TranscriptID:ENST00000500853; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0510; mirSVR-E:-11.22 | GeneName:AC100861.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000250714; TranscriptID:ENST00000511929; AnnoType:INTRONIC; mirSVR-Score:-0.0510; mirSVR-E:-11.22 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000849989; AnnoType:REGULATORY; mirSVR-Score:-0.0510; mirSVR-E:-11.22 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000849991; AnnoType:REGULATORY; mirSVR-Score:-0.0510; mirSVR-E:-11.22 | GeneName:TNFRSF10A; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000104689; TranscriptID:ENST00000221132; AnnoType:UPSTREAM; mirSVR-Score:-0.0510; mirSVR-E:-11.22 | NCRV0000000935 24413317 miR-605 rs2043556 C N/A 16399 cases and 21779 controls from seven published studies in eight common cancers EFO_0000292 N/A increasing risk bladder carcinoma rs2043556 -C of hsa-mir-605 and its dysfunction is significantly associated with the increasing risk of Bladder carcinoma by using meta-analysis in 16399 cases and 21779 controls from seven published studies in eight common cancers 0.4 MicroRNA sequence polymorphisms and the risk of different types of cancer. meta-analysis hsa-mir-605 miRNA Bladder carcinoma 0.33 AGATTTAGAA(T > C)CAAGTTAGGA chr10: 51299646 0.7404,0.2596 0.75316163353720693,0.24683836646279306 Region score:0.25; TSS score:0.08; Unmatched score:0.47; Average GERP:-0.3992871287128711 GeneName:AC069079.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000235279; TranscriptID:ENST00000419889; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR605; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207813; TranscriptID:ENST00000385078; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PRKG1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000185532; TranscriptID:ENST00000373980; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000936 26634245 NONHSAT202557.1 rs76881288 G N/A 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio in copd rs76881288-G of NONHSAT202557.1 is significantly associated with the post bronchodilator fev1/fvc ratio in copd by using GWAS analysis in 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases(p-value = 2E-6 ;OR = 0.068). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT202557.1 lncRNA Pulmonary function measurement 0.33 AAGAACTGCT(C > G)TCTCCTTCCT chr5: 43488334 0.9822,0.01777 0.98395291794087665,0.01604708205912334 Region score:0.34; TSS score:0.17; Unmatched score:0.41; Average GERP:0.2838623762376238 GeneName:AC114956.3; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000249492; TranscriptID:ENST00000505645; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:C5orf34; CADD-Score:2; Consquence:intron; GeneID:ENSG00000172244; TranscriptID:ENST00000306862; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TMEM267; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000151881; TranscriptID:ENST00000500337; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000937 24152035 NONHSAT152223.1 rs1797052 ? N/A 985 european ancestry individuals EFO_0005419 N/A Associate Contrast sensitivity rs1797052-? of NONHSAT152223.1 is significantly associated with the contrast sensitivity by using GWAS analysis in 985 european ancestry individuals(p-value = 8E-9 ;OR = 5.72). 0.4 Variants in the 1q21 risk region are associated with a visual endophenotype of autism and schizophrenia. genome-wide association analysis NONHSAT152223.1 lncRNA Contrast sensitivity measurement 0.33 GTGAGCATTA(A > G,T)GCTTGCAACT chr1: 145707383 0.8938,0.1062,. 0.03747770132517838,0.94037493628950050,0.02214736238532110 Region score:0.71; TSS score:0.84; Unmatched score:0.95; Average GERP:1.9623861386138601 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000371429; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PDZK1; CADD-Score:3; Consquence:5_prime_UTR; GeneID:ENSG00000174827; TranscriptID:ENST00000417171; AnnoType:5PRIME_UTR; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000938 28928442 NONHSAT163930.1 rs5742621 ? N/A 31,227 european ancestry cases//54,153 european ancestry controls EFO_0008404 N/A Associate Mumps rs5742621-? of NONHSAT163930.1 is significantly associated with the mumps by using GWAS analysis in 31,227 european ancestry cases//54,153 european ancestry controls(p-value = 7E-6 ;OR = 1.2171). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. genome-wide association analysis NONHSAT163930.1 lncRNA Susceptibility to mumps measurement 0.33 AAACAAAAAC(A > G)TCAATACCTC chr12: 102475321 0.997,0.002995 0.99531727828746177,0.00468272171253822 Region score:0.31; TSS score:0.25; Unmatched score:0.34; Average GERP:-0.8379247524752478 GeneName:IGF1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000017427; TranscriptID:ENST00000392904; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000939 26608782 miR-196a2 rs11614913 T N/A 2254 ischemic stroke cases and 2506 controls HP_0002140 N/A increasing risk Ischemic stroke rs11614913-T of hsa-mir-196a-2 and its dysfunction is significantly associated with the increasing risk of Ischemic stroke by using meta-analysis in 2254 ischemic stroke cases and 2506 controls 0.4 Association Between Single-Nucleotide Polymorphism (SNP) in miR-146a, miR-196a2, and miR-499 and Risk of Ischemic Stroke: A Meta-Analysis. meta-analysis hsa-mir-196a-2 miRNA Ischemic stroke 0.33 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000940 27431205 miR-146a rs2910164 C Recessive 136 patients with basic pulmonary diseases and 425 health controls EFO_0000270 N/A Decreasing risk Bronchial hyperresponsiveness in response to intubation during general anesthesia rs2910164-C of miR-146a and its dysfunction is significantly associated with the decreasing risk of bronchial hyperresponsiveness in response to intubation during general anesthesia by using case-control analysis in 136 patients with basic pulmonary diseases and 425 health controls. By using the disease cell lines or tissues, the interference of miR-146a has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 A single nucleotide polymorphism in hsamiR146a is responsible for the development of bronchial hyperresponsiveness in response to intubation during general anesthesia. case-control analysis; Function hsa-mir-146a miRNA Asthma 0.393 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 N/A 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000940 28181414 miR-146a rs2910164 C N/A 124 patients with comorbid AR and asthma (AR-A) and 206 healthy Chinese children as controls EFO_0000270 N/A no significance for risk asthma rs2910164-C of hsa-mir-146a and its dysfunction is not significantly associated with Asthma by using case-control analysis in 124 patients with comorbid AR and asthma (AR-A) and 206 healthy Chinese children as controls -0.4 A functional variant of miRNA-149 confers risk for allergic rhinitis and comorbid asthma in Chinese children. case-control analysis hsa-mir-146a miRNA Asthma 0.393 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 0 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000941 28187132 NONHSAT211630.1 rs1008897 G N/A 950 han chinese ancestry individuals//245 european ancestry individuals; 653 east asian ancestry individuals//785 european ancestry individuals EFO_0005140 N/A Associate Serum galactose-deficient iga1 levels rs1008897-G of NONHSAT211630.1 is significantly associated with the serum galactose-deficient iga1 levels by using GWAS analysis in 950 han chinese ancestry individuals//245 european ancestry individuals; 653 east asian ancestry individuals//785 european ancestry individuals(p-value = 5E-8 ;OR = 0.24). 0.4 GWAS for serum galactose-deficient IgA1 implicates critical genes of the O-glycosylation pathway. genome-wide association analysis NONHSAT211630.1 lncRNA Autoimmune disease 0.33 GTTTTTTTAC(G > A,T)TTTATAAAGG chr7: 7233809 0.2212,0.7788,. 0.26567278287461773,0.72927816004077471,0.00504905708460754 Region score:0.23; TSS score:0.12; Unmatched score:0.29; Average GERP:-0.5214533700000001 GeneName:C1GALT1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000106392; TranscriptID:ENST00000436587; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000816085; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000942 28604730 NONHSAT004062.2 rs34517439 A N/A 29,266 european ancestry cases//56,450 european ancestry controls EFO_0001071 N/A Associate Lung cancer rs34517439-A of NONHSAT004062.2 is significantly associated with the lung cancer by using GWAS analysis in 29,266 european ancestry cases//56,450 european ancestry controls(p-value = 2E-10 ;OR = 1.1355314). 0.4 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. genome-wide association analysis NONHSAT004062.2 lncRNA Lung cancer 0.33 TTCACACAAA(C > A)TTTTCTTAGA chr1: 77984833 0.9724,0.02756 0.93118469673802242,0.06881530326197757 Region score:0.4; TSS score:0.12; Unmatched score:0.11; Average GERP:0.1963623762376238 GeneName:DNAJB4; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000162616; TranscriptID:ENST00000487931; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GIPC2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000137960; TranscriptID:ENST00000476882; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000943 26352407 NONHSAT099998.2 rs11133665 A N/A 3,861 european ancestry individuals; 1,691european ancestry individuals EFO_0005116 N/A Associate Urinary metabolites rs11133665-A of NONHSAT099998.2 is significantly associated with the urinary metabolites by using GWAS analysis in 3,861 european ancestry individuals; 1,691european ancestry individuals(p-value = 2E-26 ;OR = 0.1569). 0.4 Genome-Wide Association Study with Targeted and Non-targeted NMR Metabolomics Identifies 15 Novel Loci of Urinary Human Metabolic Individuality. genome-wide association analysis NONHSAT099998.2 lncRNA Urinary metabolite measurement 0.33 CTCTTGTGCC(G > A)GCTAAAATGT chr5: 1188170 0.7718,0.2282 0.77177306320081549,0.22822693679918450 Region score:0.3; TSS score:0.31; Unmatched score:0.15; Average GERP:-0.16455940594059407 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000944 28540026 NONHSAT206231.1 rs427691 A N/A up to 6,197 european ancestry asd cases//up to 7,377 european ancestry controls//up to 1,190 asd cases//up to 1,190 controls EFO_0003756 N/A Associate Autism spectrum disorder rs427691-A of NONHSAT206231.1 is significantly associated with the autism spectrum disorder by using GWAS analysis in up to 6,197 european ancestry asd cases//up to 7,377 european ancestry controls//up to 1,190 asd cases//up to 1,190 controls(p-value = 3E-8 ;OR = 1.06). 0.4 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. genome-wide association analysis NONHSAT206231.1 lncRNA Autism spectrum disorder 0.33 AAAAGCTAGG(G > A)AGAAATGAGA chr5: 109678809 0.6773,0.3227 0.75765322375127420,0.24234677624872579 Region score:0.57; TSS score:0.67; Unmatched score:0.38; Average GERP:1.8470094736842115 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000765302; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000945 28644415 NONHSAT184017.1 rs62105778 ? N/A 141 individuals EFO_0008111 N/A Associate Prudent dietary pattern rs62105778-? of NONHSAT184017.1 is significantly associated with the prudent dietary pattern by using GWAS analysis in 141 individuals(p-value = 3E-6 ;OR = ?). 0.4 Genome-Wide Association Study of Dietary Pattern Scores.LID - E649 [pii]LID - 10.3390/nu9070649 [doi]AB - Dietary patterns, representing global food supplies rather than specific nutrients or food intakes, have been associated with cardiovascul genome-wide association analysis NONHSAT184017.1 lncRNA Diet measurement 0.33 TCTCGGTTGG(A > G)GTCCCTGATG chr2: 2766148 0.9191,0.08087 0.84523923292558613,0.15476076707441386 Region score:0.33; TSS score:0.29; Unmatched score:0.08; Average GERP:-0.21253465346534675 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000946 19584924 miR-30b hsa-mir-30b Amplification - Dominant Over 800 cancer cell lines EFO_0002939 N/A Increasing risk Medulloblastoma Amplification of miR-30b and its dysfunction is significantly associated with the increasing risk of Medulloblastoma by using analysis of sequence variation in over 800 cancer cell lines. By using the disease cell lines or tissues, the interference of miR-30b has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 Amplification and overexpression of Hsa-miR-30b, Hsa-miR-30d and KHDRBS3 at 8q24.22-q24.23 in medulloblastoma. analysis of sequence variation; Function hsa-mir-30b miRNA Medulloblastoma 0.593 N/A N/A N/A N/A N/A N/A NCRV0000000947 24658283 NONHSAT046812.2 rs4589502 T N/A 1,506 han chinese ancestry smoker cases//825 han chinese ancestry non-smoker cases//1,309 han chinese ancestry smoker controls//1,768 han chinese ancestry non-smoker controls; 912 han chinese ancestry smoker cases//622 han chinese ancestry non-smoker cases//572 han chinese ancestry smoker controls//917 han chinese ancestry non-smoker controls EFO_0001071 smoking interaction Associate Lung cancer (smoking interaction) rs4589502-T of NONHSAT046812.2 is significantly associated with the lung cancer (smoking interaction) by using GWAS analysis in 1,506 han chinese ancestry smoker cases//825 han chinese ancestry non-smoker cases//1,309 han chinese ancestry smoker controls//1,768 han chinese ancestry non-smoker controls; 912 han chinese ancestry smoker cases//622 han chinese ancestry non-smoker cases//572 han chinese ancestry smoker controls//917 han chinese ancestry non-smoker controls(p-value = 4E-6 ;OR = 1.55). 0.4 A genome-wide gene-environment interaction analysis for tobacco smoke and lung cancer susceptibility. genome-wide association analysis NONHSAT046812.2 lncRNA Lung cancer 0.33 GTGGTGAAAA(C > T)GCTTGCATGG chr15: 66862731 0.7857,0.2143 0.79986142966360856,0.20013857033639143 Region score:0.35; TSS score:0.5; Unmatched score:0.29; Average GERP:-1.0364366336633664 GeneName:AC110048.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000277152; TranscriptID:ENST00000617013; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000277989; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000948 27723757 NONHSAT179881.1 rs2304206 G N/A 2,853 european ancestry cases and 37,405 european ancestry controls; 1,827 european ancestry cases and 2,181 european ancestry controls EFO_0004208 N/A Associate Vitiligo rs2304206-G of NONHSAT179881.1 is significantly associated with the vitiligo by using GWAS analysis in 2,853 european ancestry cases and 37,405 european ancestry controls; 1,827 european ancestry cases and 2,181 european ancestry controls(p-value = 2E-9 ;OR = 1.1870846). 0.4 Genome-wide association studies of autoimmune vitiligo identify 23 new risk loci and highlight key pathways and regulatory variants. genome-wide association analysis NONHSAT179881.1 lncRNA Vitiligo 0.33 ACGCTCTCCC(G > A)GGCTCTTCCG chr19: 49665614 0.627,0.373 0.63127548419979612,0.36872451580020387 Region score:0.45; TSS score:0.36; Unmatched score:1; Average GERP:-0.9074524752475243 GeneName:BCL2L12; CADD-Score:3; Consquence:5_prime_UTR; GeneID:ENSG00000126453; TranscriptID:ENST00000616144; AnnoType:5PRIME_UTR; mirSVR-Score:NA; mirSVR-E:NA | GeneName:IRF3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000126456; TranscriptID:ENST00000601291; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000110933; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000949 29066090 NONHSAT048106.2 rs62025270 A N/A 602 european ancestry cases//3,366 european ancestry controls; 2,158 cases//5,195 controls EFO_0000768 N/A Associate Idiopathic pulmonary fibrosis rs62025270-A of NONHSAT048106.2 is significantly associated with the idiopathic pulmonary fibrosis by using GWAS analysis in 602 european ancestry cases//3,366 european ancestry controls; 2,158 cases//5,195 controls(p-value = 1E-9 ;OR = 1.27). 0.4 Genetic variants associated with susceptibility to idiopathic pulmonary fibrosis in people of European ancestry: a genome-wide association study. genome-wide association analysis NONHSAT048106.2 lncRNA Idiopathic pulmonary fibrosis 0.33 GGGAGACCTG(G > A)CTGAGCAGCC chr15: 85756967 0.887,0.113 0.83419342507645259,0.16580657492354740 Region score:0.27; TSS score:0.38; Unmatched score:0.37; Average GERP:-0.5538188118811883 GeneName:AC021739.3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000259416; TranscriptID:ENST00000557908; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC021739.5; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000259762; TranscriptID:ENST00000558637; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:KLHL25; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000183655; TranscriptID:ENST00000337975; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000524403; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000950 23704328 NONHSAT176513.1 rs8080944 A N/A 11,513 european ancestry individuals; GO_0042476 N/A Associate Primary tooth development (number of teeth) rs8080944-A of NONHSAT176513.1 is significantly associated with the primary tooth development (number of teeth) by using GWAS analysis in 11,513 european ancestry individuals; (p-value = 2E-19 ;OR = 0.221). 0.4 Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances. genome-wide association analysis NONHSAT176513.1 lncRNA Odontogenesis 0.33 TAATTTTACA(G > A)TCCCATTACC chr17: 70189445 0.4543,0.5457 0.44880861365953109,0.55119138634046890 Region score:0.19; TSS score:0.05; Unmatched score:0.04; Average GERP:-0.18103960396039587 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000951 26198764 NONHSAT006310.2 rs72700829 C N/A 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls EFO_0000692 N/A Associate Schizophrenia rs72700829-C of NONHSAT006310.2 is significantly associated with the schizophrenia by using GWAS analysis in 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls(p-value = 3E-8 ;OR = 1.1363636). 0.4 Genome-wide association study of schizophrenia in Ashkenazi Jews. genome-wide association analysis NONHSAT006310.2 lncRNA Schizophrenia 0.33 ATGCTCTTCC(C > T)ATAGCCCTTC chr1: 150567705 0.9824,0.01757 0.96229134811416921,0.03770865188583078 Region score:0.34; TSS score:0.36; Unmatched score:0.56; Average GERP:-0.5783680808080806 GeneName:ADAMTSL4-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000203804; TranscriptID:ENST00000617352; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000372425; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RN7SL473P; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277452; TranscriptID:ENST00000580341; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RN7SL600P; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000274963; TranscriptID:ENST00000581811; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000952 26835600 NONHSAT186129.1 rs1595824 T N/A 38,937 european ancestry morning chronotype individuals//50,346 european ancestry evening chronotype individuals EFO_0004354 N/A Associate Morning vs. evening chronotype rs1595824-T of NONHSAT186129.1 is significantly associated with the morning vs. evening chronotype by using GWAS analysis in 38,937 european ancestry morning chronotype individuals//50,346 european ancestry evening chronotype individuals(p-value = 1E-10 ;OR = 1.08). 0.4 GWAS of 89,283 individuals identifies genetic variants associated with self-reporting of being a morning person. genome-wide association analysis NONHSAT186129.1 lncRNA Circadian rhythm 0.33 GAGGCTTTAC(C > A,T)CCTATGTTTC chr2: 198009282 N/A 0.54917654179408766,0.03293036442405708,0.41789309378185524 Region score:0.3; TSS score:0.12; Unmatched score:0.01; Average GERP:0.03831683168316833 GeneName:PLCL1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000115896; TranscriptID:ENST00000428675; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000953 26297903 NONHSAT113901.2 rs9362426 ? N/A 723 european ancestry cases EFO_0000289 N/A Associate Depressive episodes in bipolar disorder rs9362426-? of NONHSAT113901.2 is significantly associated with the depressive episodes in bipolar disorder by using GWAS analysis in 723 european ancestry cases(p-value = 1E-6 ;OR = 0.08). 0.4 Genetics of long-term treatment outcome in bipolar disorder. genome-wide association analysis NONHSAT113901.2 lncRNA Bipolar disorder 0.33 CTCAGAAGGC(A > G,T)AGATTTGAAC chr6: 87380156 0.3375,0.6625,. 0.33726745667686034,0.66268476044852191,0.00004778287461773 Region score:0.24; TSS score:0.03; Unmatched score:0; Average GERP:0.10321649484536094 GeneName:SMIM8; CADD-Score:2; Consquence:intron,NMD; GeneID:ENSG00000111850; TranscriptID:ENST00000448282; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000954 28346442 NONHSAT221109.1 rs320203 A N/A 2,566 european ancestry cases//40,941 european ancestry controls EFO_0006462 N/A Associate Mucinous ovarian carcinoma rs320203-A of NONHSAT221109.1 is significantly associated with the mucinous ovarian carcinoma by using GWAS analysis in 2,566 european ancestry cases//40,941 european ancestry controls(p-value = 2E-8 ;OR = 1.2856314). 0.4 Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer. genome-wide association analysis NONHSAT221109.1 lncRNA Ovarian mucinous adenocancer 0.33 ACCCCCAGTT(C > A)TGTTTCTTGA chr9: 102180944 0.8233,0.1767 0.82096553261977573,0.17903446738022426 Region score:0.31; TSS score:0.28; Unmatched score:0.09; Average GERP:-0.36746534653465357 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000955 26152337 hsa-mir-647 rs73147065 G N/a 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A Increasing risk Hepatocellular carcinoma rs73147065-G of hsa-mir-647 and its dysfunction is significantly associated with the increasing risk of hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors. 0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. case-control analysis hsa-mir-647 miRNA Hepatocellular cancer 0.33 GCCCTGCCTG(A > C,G)CCCTCCCTCC chr20: 63942653 0.7694,.,0.2306 0.74359709480122324,0.00762136850152905,0.24878153669724770 Region score:0.28; TSS score:0.28; Unmatched score:0.71; Average GERP:-1.5528940594059402 GeneName:MIR1914; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284433; TranscriptID:ENST00000607800; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR647; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207554; TranscriptID:ENST00000384823; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000657889; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:UCKL1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000198276; TranscriptID:ENST00000354216; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000956 28120872 NONHSAT039249.2 rs1742101 G N/A 66 han chinese ancestry non-responder cases//160 han chinese ancestry responder cases; 79 han chinese ancestry non-responder cases//291 han chinese ancestry responder cases EFO_0001061 platinum-based neoadjuvant chemotherapy Associate Response to platinum-based neoadjuvant chemotherapy in cervical cancer rs1742101-G of NONHSAT039249.2 is significantly associated with the response to platinum-based neoadjuvant chemotherapy in cervical cancer by using GWAS analysis in 66 han chinese ancestry non-responder cases//160 han chinese ancestry responder cases; 79 han chinese ancestry non-responder cases//291 han chinese ancestry responder cases(p-value = 7E-6 ;OR = 1.92). 0.4 Genome-wide association study identifies four SNPs associated with response to platinum-based neoadjuvant chemotherapy for cervical cancer. genome-wide association analysis NONHSAT039249.2 lncRNA Cervical cancer 0.33 CCCAACAGCT(C > T)GGCTGGGACC chr14: 90698719 0.7654,0.2346 0.83115921253822629,0.16884078746177370 Region score:0.43; TSS score:0.4; Unmatched score:0.63; Average GERP:0.07727227722772285 GeneName:AL139193.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000258716; TranscriptID:ENST00000553712; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000275725; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TTC7B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000165914; TranscriptID:ENST00000328459; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000957 27863252 NONHSAT217884.1 rs7826487 G N/A 170,494 european ancestry individuals EFO_0007989 N/A Associate Monocyte percentage of white cells rs7826487-G of NONHSAT217884.1 is significantly associated with the monocyte percentage of white cells by using GWAS analysis in 170,494 european ancestry individuals(p-value = 2E-23 ;OR = 0.05602957). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT217884.1 lncRNA Monocypte percentage of leukocytes 0.33 GCCTCTCTAT(A > G)ATATTGTTGA chr8: 7023403 0.8401,0.1599 0.83071323904179408,0.16928676095820591 Region score:0.3; TSS score:0.29; Unmatched score:0.14; Average GERP:-0.018247524752475222 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000958 23770605 NONHSAT157304.1 rs4406737 G N/A 2,179 european ancestry cases//6,221 european ancestry controls; 1,709 european ancestry cases//6,318 european ancestry controls EFO_0000095 N/A Associate Chronic lymphocytic leukemia rs4406737-G of NONHSAT157304.1 is significantly associated with the chronic lymphocytic leukemia by using GWAS analysis in 2,179 european ancestry cases//6,221 european ancestry controls; 1,709 european ancestry cases//6,318 european ancestry controls(p-value = 1E-14 ;OR = 1.27). 0.4 Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia. genome-wide association analysis NONHSAT157304.1 lncRNA Chronic lymphocytic leukemia 0.451 CTGAGCTTTC(A > G)ATTTCAAAAA chr10: 88999967 0.5286,0.4714 0.50812308868501529,0.49187691131498470 Region score:0.21; TSS score:0.26; Unmatched score:0.35; Average GERP:0.056661089108910906 GeneName:FAS; CADD-Score:2; Consquence:intron; GeneID:ENSG00000026103; TranscriptID:ENST00000355740; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000411290; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000958 26956414 NONHSAT157304.1 rs4406737 G N/A 3,100 european ancestry cases//7,667 european ancestry controls; 1,958 cases// 5,530 controls EFO_0000095 N/A Associate Chronic lymphocytic leukemia rs4406737-G of NONHSAT157304.1 is significantly associated with the chronic lymphocytic leukemia by using GWAS analysis in 3,100 european ancestry cases//7,667 european ancestry controls; 1,958 cases// 5,530 controls(p-value = 9E-14 ;OR = 1.27). 0.4 Meta-analysis of genome-wide association studies discovers multiple loci for chronic lymphocytic leukemia. genome-wide association analysis NONHSAT157304.1 lncRNA Chronic lymphocytic leukemia 0.451 CTGAGCTTTC(A > G)ATTTCAAAAA chr10: 88999967 0.5286,0.4714 0.50812308868501529,0.49187691131498470 Region score:0.21; TSS score:0.26; Unmatched score:0.35; Average GERP:0.056661089108910906 GeneName:FAS; CADD-Score:2; Consquence:intron; GeneID:ENSG00000026103; TranscriptID:ENST00000355740; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000411290; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000959 23824729 NONHSAT031256.2 rs2251468 A N/A 44,147 european ancestry individuals EFO_0000378 N/A Associate Homocysteine levels rs2251468-A of NONHSAT031256.2 is significantly associated with the homocysteine levels by using GWAS analysis in 44,147 european ancestry individuals(p-value = 1E-12 ;OR = 0.0512). 0.4 Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease. genome-wide association analysis NONHSAT031256.2 lncRNA Coronary artery disease 0.33 TGTTCAAAGA(C > A,G,T)GAGGTTCTCT chr12: 120967323 0.2991,0.7009,.,. 0.28280294342507645,0.71604230377166156,0.00105918705402650,0.00009556574923547 Region score:0.32; TSS score:0.34; Unmatched score:0.32; Average GERP:-0.3300831683168317 GeneName:HNF1A-AS1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000241388; TranscriptID:ENST00000539163; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000960 27951730 WT1-AS rs7943101 T N/a 313 aml patients EFO_0000222 N/A No significance for prognosis Acute myeloid leukemia rs7943101-T of WT1-AS and its dysfunction is not significantly associated with acute myeloid leukemia by using analysis of sequence variation in 313 AML patients. -0.4 Long non-coding RNA GAS5 polymorphism predicts a poor prognosis of acute myeloid leukemia in Chinese patients via affecting hematopoietic reconstitution. analysis of sequence variation WT1-AS lncRNA Acute myeloid leukemia -0.33 N/A N/A N/A N/A N/A N/A NCRV0000000961 22778062 SNORD115-15 rs12910266 T N/A N/A function N/A not significant changes in the structure function rs12910266-T of SNORD115-15 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in nan -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD115-15 snoRNA function -0.049 TAGGATTACG(C > T)TGAGGCCCAG chr15: 25197648 0.9862,0.01378 0.97758983180428134,0.02241016819571865 Region score:0.33; TSS score:0.07; Unmatched score:0.54; Average GERP:-0.16314356435643562 GeneName:SNHG14; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000224078; TranscriptID:ENST00000424333; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORD115-13; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000273835; TranscriptID:ENST00000363358; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORD115-14; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000199960; TranscriptID:ENST00000363090; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORD115-15; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000201679; TranscriptID:ENST00000364809; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORD115-16; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000200757; TranscriptID:ENST00000363887; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORD115-17; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000201482; TranscriptID:ENST00000364612; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000962 27863252 NONHSAT220313.1 rs605642 A N/A 171,771 european ancestry individuals EFO_0009389 N/A Associate Sum eosinophil basophil counts rs605642-A of NONHSAT220313.1 is significantly associated with the sum eosinophil basophil counts by using GWAS analysis in 171,771 european ancestry individuals(p-value = 2E-11 ;OR = 0.02440247). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT220313.1 lncRNA Sum of eosinophil and basophil counts 0.33 GAAATGATGG(C > A)TTTGAAGCTG chr9: 133005082 0.5745,0.4255 0.49752325433231396,0.50247674566768603 Region score:0.28; TSS score:0.52; Unmatched score:0.34; Average GERP:-0.9401170297029703 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000963 26198764 NONHSAT177083.1 rs4968361 A N/A 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls EFO_0000692 N/A Associate Schizophrenia rs4968361-A of NONHSAT177083.1 is significantly associated with the schizophrenia by using GWAS analysis in 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls(p-value = 9E-6 ;OR = 1.08). 0.4 Genome-wide association study of schizophrenia in Ashkenazi Jews. genome-wide association analysis NONHSAT177083.1 lncRNA Schizophrenia 0.33 AGCTGACAAC(A > G)GAGTCAACCT chr17: 59425467 0.9171,0.08287 0.90218845565749235,0.09781154434250764 Region score:0.51; TSS score:0.73; Unmatched score:0.44; Average GERP:2.6741 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000964 21102462 NONHSAT018095.2 rs900145 C N/A 86,142 european ancestry female individuals//557 old order amish (founder/genetic isolate) female individuals//1,103 erasmus rucphen (founder/genetic isolate) female individuals; up to 12,813 european ancestry female individuals//910 val borbera (founder/genetic isolate) female individuals//348 orcadian (founder/genetic isolate) female individuals//338 friuli venezia giulia (founder/genetic isolate) female individuals//322 carlantino (founder/genetic/isolate) female individuals EFO_0004703 N/A Associate Menarche (age at onset) rs900145-C of NONHSAT018095.2 is significantly associated with the menarche (age at onset) by using GWAS analysis in 86,142 european ancestry female individuals//557 old order amish (founder/genetic isolate) female individuals//1,103 erasmus rucphen (founder/genetic isolate) female individuals; up to 12,813 european ancestry female individuals//910 val borbera (founder/genetic isolate) female individuals//348 orcadian (founder/genetic isolate) female individuals//338 friuli venezia giulia (founder/genetic isolate) female individuals//322 carlantino (founder/genetic/isolate) female individuals(p-value = 2E-8 ;OR = 2.3). 0.4 Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. genome-wide association analysis NONHSAT018095.2 lncRNA Age at menarche 0.451 ACTATGTGAA(C > T)GCTTTCAATG chr11: 13272358 0.4257,0.5743 0.39055332568807339,0.60944667431192660 Region score:0.18; TSS score:0.43; Unmatched score:0.35; Average GERP:-0.029054059405940653 GeneName:ARNTL; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000133794; TranscriptID:ENST00000529050; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000424056; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000964 27182965 NONHSAT018095.2 rs900145 ? N/A 76,831 european ancestry individuals EFO_0004703 N/A Associate Menarche (age at onset) rs900145-? of NONHSAT018095.2 is significantly associated with the menarche (age at onset) by using GWAS analysis in 76,831 european ancestry individuals(p-value = 1E-6 ;OR = ?). 0.4 Detection and interpretation of shared genetic influences on 42 human traits. genome-wide association analysis NONHSAT018095.2 lncRNA Age at menarche 0.451 ACTATGTGAA(C > T)GCTTTCAATG chr11: 13272358 0.4257,0.5743 0.39055332568807339,0.60944667431192660 Region score:0.18; TSS score:0.43; Unmatched score:0.35; Average GERP:-0.029054059405940653 GeneName:ARNTL; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000133794; TranscriptID:ENST00000529050; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000424056; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000965 24682535 MIR-146a rs2910164 C N/A 132 type 2 diabetes patients (T2D) analysed for Diabetic polyneuropathy (DPN) and 128 T2D patients analysed for cardiovascular autonomic neuropathy (CAN) Orphanet_140471 N/A decreasing risk Hereditary sensory and autonomic neuropathy rs2910164 -C of hsa-mir-146a and its dysfunction is significantly associated with the decreasing risk of Hereditary sensory and autonomic neuropathy by using case-control analysis in 132 type 2 diabetes patients (T2D) analysed for Diabetic polyneuropathy (DPN) and 128 T2D patients analysed for cardiovascular autonomic neuropathy (CAN) 0.4 Common polymorphisms in MIR146a, MIR128a and MIR27a genes contribute to neuropathy susceptibility in type 2 diabetes. case-control analysis hsa-mir-146a miRNA Hereditary sensory and autonomic neuropathy 0.33 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 0 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000966 17554300 NONHSAT206337.1 rs6596075 C N/A 1,748 european ancestry cases//2,938 european ancestry controls; (see parkes 2007) EFO_0000384 N/A Associate Crohn's disease rs6596075-C of NONHSAT206337.1 is significantly associated with the crohn's disease by using GWAS analysis in 1,748 european ancestry cases//2,938 european ancestry controls; (see parkes 2007)(p-value = 3E-6 ;OR = 1.55). 0.4 Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. genome-wide association analysis NONHSAT206337.1 lncRNA Crohn's disease 0.33 GATTCACTCA(G > C)AACAGGTTGC chr5: 132406536 0.2584,0.7416 0.25807530581039755,0.74192469418960244 Region score:0.31; TSS score:0.4; Unmatched score:0.19; Average GERP:-0.1823287128712871 GeneName:AC116366.3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000283782; TranscriptID:ENST00000638452; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:C5orf56; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000197536; TranscriptID:ENST00000337752; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000967 29803923 HULC rs7770772 C N/A 521 patients and 817 sex- and age (卤5) frequency-matched controls in the risk study; Among them, 351 hepatocellular cancer patients were involved in the prognosis study. EFO_0000182 N/A no significance for risk hepatocellular carcinoma rs7770772-C of HULC and its dysfunction is not significantly associated with Hepatocellular carcinoma by using case-control analysis in 521 patients and 817 sex- and age (卤5) frequency-matched controls in the risk study; Among them, 351 hepatocellular cancer patients were involved in the prognosis study. -0.4 The association of lncRNA-HULC polymorphisms with hepatocellular cancer risk and prognosis. case-control analysis HULC lncRNA Hepatocellular carcinoma -0.33 CTGTTGGTAG(G > C,T)ACTACATCAA chr6: 8651161 0.9125,0.08746,. 0.96611397808358817,0.03387009429153924,0.00001592762487257 Region score:0.39; TSS score:0.52; Unmatched score:0.63; Average GERP:-0.6862869306930691 GeneName:AL355499.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000285216; TranscriptID:ENST00000644718; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AL591485.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000285219; TranscriptID:ENST00000642357; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF02101; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000276019; TranscriptID:ENST00000612720; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000968 23720494 NONHSAT205983.1 rs12153606 ? N/A 2,603 european ancestry individuals EFO_0005267 N/A Associate Blood trace element (cu levels) rs12153606-? of NONHSAT205983.1 is significantly associated with the blood trace element (cu levels) by using GWAS analysis in 2,603 european ancestry individuals(p-value = 2E-6 ;OR = 0.159). 0.4 Genome-wide association study identifies loci affecting blood copper, selenium and zinc. genome-wide association analysis NONHSAT205983.1 lncRNA Serum copper measurement 0.33 TCTTATTCCA(G > T)TATATAACAA chr5: 85287951 0.9127,0.08726 0.87551764780835881,0.12448235219164118 Region score:0.44; TSS score:0.28; Unmatched score:0.03; Average GERP:-0.06277623762376239 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000969 27328823 mir-4743 rs7235219 G N/a 17,008 ad cases and 37,154 controls EFO_0000249 N/A Decreasing risk Alzheimer's disease rs7235219-G of mir-4743 and its dysfunction is significantly associated with the decreasing risk of Alzheimer's disease by using case-control analysis in 17,008 AD cases and 37,154 controls. 0.4 Genome-wide identification of microRNA-related variants associated with risk of Alzheimer's disease. case-control analysis hsa-mir-4743 miRNA Alzheimers disease 0.33 GGAGGCATGA(A > G)TGAGCCATCT chr18: 48670627 0.9647,0.03534 0.95557785423037716,0.04442214576962283 Region score:0.54; TSS score:0.29; Unmatched score:0.34; Average GERP:-0.047981188118812225 GeneName:AC048380.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000267762; TranscriptID:ENST00000589818; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CTIF; CADD-Score:2; Consquence:intron; GeneID:ENSG00000134030; TranscriptID:ENST00000382998; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR4743; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000266276; TranscriptID:ENST00000584576; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000575462; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000970 27863252 NONHSAT124860.2 rs2948294 G N/A 171,529 european ancestry individuals EFO_0005192 N/A Associate Red cell distribution width rs2948294-G of NONHSAT124860.2 is significantly associated with the red cell distribution width by using GWAS analysis in 171,529 european ancestry individuals(p-value = 6E-26 ;OR = 0.03831231). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT124860.2 lncRNA Red blood cell distribution width 0.33 GGCTCGGGGC(A > G)TTGGGGGCTT chr8: 8237439 0.5357,0.4643 0.58581007900101936,0.41418992099898063 Region score:0.15; TSS score:0.32; Unmatched score:0.59; Average GERP:-0.6124820202020206 GeneName:ALG1L13P; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000253981; TranscriptID:ENST00000523017; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:FAM86B3P; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000173295; TranscriptID:ENST00000310542; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000971 25961943 NONHSAT001724.2 rs586178 C N/A up to 62,166 european ancestry individuals EFO_0000319 N/A Associate Cholesterol//total rs586178-C of NONHSAT001724.2 is significantly associated with the cholesterol//total by using GWAS analysis in up to 62,166 european ancestry individuals(p-value = 3E-9 ;OR = 0.037). 0.4 The impact of low-frequency and rare variants on lipid levels. genome-wide association analysis NONHSAT001724.2 lncRNA Cardiovascular disease 0.33 GTGTTAGGGC(G > A,C)CAGAGGGGCA chr1: 25420739 0.601,.,0.399 0.49288831549439347,0.00020705912334352,0.50690462538226299 Region score:0.19; TSS score:0.15; Unmatched score:0.57; Average GERP:0.49476435643564354 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000351175; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RHCE; CADD-Score:5; Consquence:synonymous; GeneID:ENSG00000188672; TranscriptID:ENST00000294413; AnnoType:SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RHCE; CADD-Score:7; Consquence:missense; GeneID:ENSG00000188672; TranscriptID:ENST00000294413; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000972 23860321 let-7a-2 rs1143770 T N/A 108 DN, 104 DM patients and 62 health control individuals EFO_0000401 N/A increasing risk diabetic nephropathy rs1143770-T of hsa-let-7a-2 and its dysfunction is significantly associated with the increasing risk of Diabetic nephropathy by using case-control analysis in 108 DN, 104 DM patients and 62 health control individuals 0.4 A potentially functional polymorphism in the regulatory region of let-7a-2 is associated with an increased risk for diabetic nephropathy. case-control analysis hsa-let-7a-2 miRNA Diabetic nephropathy 0.33 TATCTGTTGA(C > T)GAAATAGAAT chr11: 122146890 0.5074,0.4926 0.48013825178389398,0.51986174821610601 Region score:0.37; TSS score:0.37; Unmatched score:0.36; Average GERP:-0.28530099009900994 GeneName:MIR100HG; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000255248; TranscriptID:ENST00000534782; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIRLET7A2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000198975; TranscriptID:ENST00000362105; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000444950; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000973 27328823 mir-6504 rs74469188 C N/A 17,008 AD cases and 37,154 controls EFO_0000249 N/A increasing risk Alzheimer's disease rs74469188-C of hsa-mir-6504 and its dysfunction is significantly associated with the increasing risk of Alzheimers disease by using case-control analysis in 17,008 AD cases and 37,154 controls 0.4 Genome-wide identification of microRNA-related variants associated with risk of Alzheimer's disease. case-control analysis hsa-mir-6504 miRNA Alzheimers disease 0.33 GGCTGTGCTG(T > C)AATGCAGTCT chr16: 81611365 0.8868,0.1132 0.86932976554536187,0.13067023445463812 Region score:0.21; TSS score:0.14; Unmatched score:0.39; Average GERP:-1.8127128712871299 GeneName:CMIP; CADD-Score:2; Consquence:intron; GeneID:ENSG00000153815; TranscriptID:ENST00000537098; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR6504; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000275109; TranscriptID:ENST00000613520; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000974 21348951 NONHSAT170567.1 rs17636733 ? N/A 851 old order amish individuals EFO_0002503 N/A Associate Cardiac hypertrophy rs17636733-? of NONHSAT170567.1 is significantly associated with the cardiac hypertrophy by using GWAS analysis in 851 old order amish individuals(p-value = 2E-7 ;OR = ?). 0.4 Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality. genome-wide association analysis NONHSAT170567.1 lncRNA Cardiac hypertrophy 0.33 TGAAGCATGA(T > C)GGTGAGAACA chr15: 25667192 0.6823,0.3177 0.60463653160040774,0.39536346839959225 Region score:0.5; TSS score:0.28; Unmatched score:0.04; Average GERP:-0.934547524752475 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000975 29059683 NONHSAT205698.1 rs145106188 CT N/A 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls EFO_0000305 N/A Associate Breast cancer rs145106188-CT of NONHSAT205698.1 is significantly associated with the breast cancer by using GWAS analysis in 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls(p-value = 3E-7 ;OR = 0.0343). 0.4 Association analysis identifies 65 new breast cancer risk loci. genome-wide association analysis NONHSAT205698.1 lncRNA Breast cancer 0.33 ATTTCATATT(C > CA,CT,CTT)TTTTTTTTTT chr5: 50491019 0.7472,.,0.2528,. 0.68071483180428134,.,0.31851267838939857,0.00077248980632008 N/A GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000976 27951730 H19 rs2251375 C N/A 313 AML patients EFO_0000222 N/A no significance for prognosis acute myeloid leukemia rs2251375-C of H19 and its dysfunction is not significantly associated with Acute myeloid leukemia by using analysis of sequence variation in 313 AML patients -0.4 Long non-coding RNA GAS5 polymorphism predicts a poor prognosis of acute myeloid leukemia in Chinese patients via affecting hematopoietic reconstitution. analysis of sequence variation H19 lncRNA Acute myeloid leukemia -0.33 CGGCTCAGAC(C > A,T)CTCACGTTCC chr11:1998266 0.5194,0.4806 0 Region score:0.25;TSS score:0.56;Unmatched score:0.79;Average GERP:1.015 GeneName:LINC01219; CADD_score:1; Consquence:DOWNSTREAM; GeneID:ENSG00000232987; TranscriptID:ENST00000418612; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01973; CADD_score:1; Consquence:DOWNSTREAM; GeneID:ENSG00000274866; TranscriptID:ENST00000620857; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01972; CADD_score:1; Consquence:DOWNSTREAM; GeneID:ENSG00000275266; TranscriptID:ENST00000617997; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:H19; CADD_score:1; Consquence:UPSTREAM; GeneID:ENSG00000130600; TranscriptID:ENST00000414790; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR675; CADD_score:1; Consquence:UPSTREAM; GeneID:ENSG00000284010; TranscriptID:ENST00000390168; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD_score:4; Consquence:REGULATORY; GeneID:NA; TranscriptID:ENSR00000035875; AnnoType:RegulatoryFeature; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD_score:4; Consquence:REGULATORY; GeneID:NA; TranscriptID:ENSR00000262400; AnnoType:RegulatoryFeature; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LINC01219; CADD_score:1; Consquence:DOWNSTREAM; GeneID:ENSG00000232987; TranscriptID:ENST00000418612; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01973; CADD_score:1; Consquence:DOWNSTREAM; GeneID:ENSG00000274866; TranscriptID:ENST00000620857; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01972; CADD_score:1; Consquence:DOWNSTREAM; GeneID:ENSG00000275266; TranscriptID:ENST00000617997; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:H19; CADD_score:1; Consquence:UPSTREAM; GeneID:ENSG00000130600; TranscriptID:ENST00000414790; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR675; CADD_score:1; Consquence:UPSTREAM; GeneID:ENSG00000284010; TranscriptID:ENST00000390168; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD_score:4; Consquence:REGULATORY; GeneID:NA; TranscriptID:ENSR00000035875; AnnoType:RegulatoryFeature; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD_score:4; Consquence:REGULATORY; GeneID:NA; TranscriptID:ENSR00000262400; AnnoType:RegulatoryFeature; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000977 28017375 NONHSAT010798.2 rs3811444 T N/A up to 29,946 european ancestry individuals//up to 6150 african american individuals//15,074 east asian individuals.; 16,389 individuals of european and african american ancestry. EFO_0004526 N/A Associate Mean corpuscular volume rs3811444-T of NONHSAT010798.2 is significantly associated with the mean corpuscular volume by using GWAS analysis in up to 29,946 european ancestry individuals//up to 6150 african american individuals//15,074 east asian individuals.; 16,389 individuals of european and african american ancestry.(p-value = 1E-9 ;OR = 0.0047). 0.4 Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis. genome-wide association analysis NONHSAT010798.2 lncRNA Mean corpuscular volume 0.565 GGGGAAACCA(C > T)GCCATCTCCT chr1: 247876149 0.7726,0.2274 0.74839927370030581,0.25160072629969418 Region score:0.13; TSS score:0.23; Unmatched score:0.34; Average GERP:0.6634764356435642 GeneName:TRIM58; CADD-Score:7; Consquence:missense; GeneID:ENSG00000162722; TranscriptID:ENST00000366481; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000977 27863252 NONHSAT010798.2 rs3811444 T N/A 172,433 european ancestry individuals EFO_0004526 N/A Associate Mean corpuscular volume rs3811444-T of NONHSAT010798.2 is significantly associated with the mean corpuscular volume by using GWAS analysis in 172,433 european ancestry individuals(p-value = 2E-63 ;OR = 0.06266884). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT010798.2 lncRNA Mean corpuscular volume 0.565 GGGGAAACCA(C > T)GCCATCTCCT chr1: 247876149 0.7726,0.2274 0.74839927370030581,0.25160072629969418 Region score:0.13; TSS score:0.23; Unmatched score:0.34; Average GERP:0.6634764356435642 GeneName:TRIM58; CADD-Score:7; Consquence:missense; GeneID:ENSG00000162722; TranscriptID:ENST00000366481; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000977 28017375 NONHSAT010798.2 rs3811444 ? N/A up to 29,946 european ancestry individuals//up to 6150 african american individuals//15,074 east asian individuals.; 16,389 individuals of european and african american ancestry. EFO_0004526 N/A Associate Mean corpuscular volume rs3811444-? of NONHSAT010798.2 is significantly associated with the mean corpuscular volume by using GWAS analysis in up to 29,946 european ancestry individuals//up to 6150 african american individuals//15,074 east asian individuals.; 16,389 individuals of european and african american ancestry.(p-value = 3E-14 ;OR = ?). 0.4 Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis. genome-wide association analysis NONHSAT010798.2 lncRNA Mean corpuscular volume 0.565 GGGGAAACCA(C > T)GCCATCTCCT chr1: 247876149 0.7726,0.2274 0.74839927370030581,0.25160072629969418 Region score:0.13; TSS score:0.23; Unmatched score:0.34; Average GERP:0.6634764356435642 GeneName:TRIM58; CADD-Score:7; Consquence:missense; GeneID:ENSG00000162722; TranscriptID:ENST00000366481; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000977 28453575 NONHSAT010798.2 rs3811444 T N/A 12,502 hispanic/latino individuals; 4,772 hispanic/latino individuals EFO_0004526 N/A Associate Mean corpuscular volume rs3811444-T of NONHSAT010798.2 is significantly associated with the mean corpuscular volume by using GWAS analysis in 12,502 hispanic/latino individuals; 4,772 hispanic/latino individuals(p-value = 4E-6 ;OR = 0.382). 0.4 Genome-wide association study of red blood cell traits in Hispanics/Latinos: The Hispanic Community Health Study/Study of Latinos. genome-wide association analysis NONHSAT010798.2 lncRNA Mean corpuscular volume 0.565 GGGGAAACCA(C > T)GCCATCTCCT chr1: 247876149 0.7726,0.2274 0.74839927370030581,0.25160072629969418 Region score:0.13; TSS score:0.23; Unmatched score:0.34; Average GERP:0.6634764356435642 GeneName:TRIM58; CADD-Score:7; Consquence:missense; GeneID:ENSG00000162722; TranscriptID:ENST00000366481; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000978 28181694 NONHSAT164363.1 rs17786035 G N/A 488 european ancestry female children//445 european ancestry male children; 245 european ancestry female children//241 european ancestry male children EFO_0007701 N/A Associate Pediatric bone mineral density (spine) rs17786035-G of NONHSAT164363.1 is significantly associated with the pediatric bone mineral density (spine) by using GWAS analysis in 488 european ancestry female children//445 european ancestry male children; 245 european ancestry female children//241 european ancestry male children(p-value = 7E-7 ;OR = 0.351513). 0.4 A Genomewide Association Study Identifies Two Sex-Specific Loci, at SPTB and IZUMO3, Influencing Pediatric Bone Mineral Density at Multiple Skeletal Sites. genome-wide association analysis NONHSAT164363.1 lncRNA Spine bone mineral density 0.33 GAACCCTGAT(C > G)TTCTGACTCA chr12: 5211314 0.74,0.26 0.78523190621814475,0.21476809378185524 Region score:0.24; TSS score:0.13; Unmatched score:0.05; Average GERP:-0.482228284158416 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000979 27951730 WT1-AS rs664589 G N/a 313 aml patients EFO_0000222 N/A No significance for prognosis Acute myeloid leukemia rs664589-G of WT1-AS and its dysfunction is not significantly associated with acute myeloid leukemia by using analysis of sequence variation in 313 AML patients. -0.4 Long non-coding RNA GAS5 polymorphism predicts a poor prognosis of acute myeloid leukemia in Chinese patients via affecting hematopoietic reconstitution. analysis of sequence variation WT1-AS lncRNA Acute myeloid leukemia -0.33 N/A N/A N/A N/A N/A N/A NCRV0000000980 24740154 NONHSAT160013.1 rs7126629 C N/A 931 european ancestry cases//4,120 european ancestry controls; 2,571 european ancestry cases//921 european ancestry controls EFO_0001663 N/A Associate Prostate cancer (early onset) rs7126629-C of NONHSAT160013.1 is significantly associated with the prostate cancer (early onset) by using GWAS analysis in 931 european ancestry cases//4,120 european ancestry controls; 2,571 european ancestry cases//921 european ancestry controls(p-value = 2E-8 ;OR = 1.44). 0.4 Genome-wide association scan for variants associated with early-onset prostate cancer. genome-wide association analysis NONHSAT160013.1 lncRNA Prostate cancer 0.33 CCCACATCTG(C > A,T)GTGTCCACAC chr11: 2207722 0.2806,0.7194,. 0.25947693679918450,0.74052306320081549,. Region score:0.19; TSS score:0.43; Unmatched score:0.16; Average GERP:-0.44618811881188125 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000981 25897833 NONHSAT207105.1 rs1055569 ? N/A up to 170 cases//5,200 controls EFO_0004720 N/A Associate Psychotic symptoms and prion disease rs1055569-? of NONHSAT207105.1 is significantly associated with the psychotic symptoms and prion disease by using GWAS analysis in up to 170 cases//5,200 controls(p-value = 3E-6 ;OR = 2.36). 0.4 Genome-wide association study of behavioural and psychiatric features in human prion disease. genome-wide association analysis NONHSAT207105.1 lncRNA Prion disease 0.33 GTTTGAAAAT(C > T)TACAAATGTG chr6: 31472305 0.5968,0.4032 0.59560556829765545,0.40439443170234454 Region score:0.23; TSS score:0.34; Unmatched score:0.18; Average GERP:-0.29917633663366344 GeneName:HCP5; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000206337; TranscriptID:ENST00000467369; AnnoType:INTRONIC; mirSVR-Score:-0.9596; mirSVR-E:-8.86 | NCRV0000000982 27117709 NONHSAT202081.1 rs2736108 ? N/A 4,939 european ancestry cases//14,352 european ancestry controls; 7,333 european ancestry cases//42,468 european ancestry controls EFO_1000650 N/A Associate Breast cancer (estrogen-receptor negative) rs2736108-? of NONHSAT202081.1 is significantly associated with the breast cancer (estrogen-receptor negative) by using GWAS analysis in 4,939 european ancestry cases//14,352 european ancestry controls; 7,333 european ancestry cases//42,468 european ancestry controls(p-value = 1E-8 ;OR = 1.1235955). 0.4 Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer. genome-wide association analysis NONHSAT202081.1 lncRNA Estrogen-receptor negative breast cancer 0.33 TGTCCACACT(C > T)GCGCCCTGAT chr5: 1297373 0.7216,0.2784 0.75681702344546381,0.24318297655453618 Region score:0.28; TSS score:0.43; Unmatched score:0.43; Average GERP:0.03451485148514858 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000746748; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TERT; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000164362; TranscriptID:ENST00000310581; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000983 19416921 NONHSAT195782.1 rs1042779 A N/A 3,683 european ancestry cases//14,507 european ancestry controls EFO_0000289 N/A Associate Bipolar disorder rs1042779-A of NONHSAT195782.1 is significantly associated with the bipolar disorder by using GWAS analysis in 3,683 european ancestry cases//14,507 european ancestry controls(p-value = 2E-7 ;OR = 1.19). 0.4 Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry. genome-wide association analysis NONHSAT195782.1 lncRNA Bipolar disorder 0.33 CAGGCCCTGC(A > G)GATGTCGCTG chr3: 52786995 0.5753,0.4247 0.56975503312945973,0.43024496687054026 Region score:0.34; TSS score:0.46; Unmatched score:0.77; Average GERP:1.9610099009900983 GeneName:ITIH1; CADD-Score:7; Consquence:missense; GeneID:ENSG00000055957; TranscriptID:ENST00000273283; AnnoType:NON_SYNONYMOUS; mirSVR-Score:-0.1550; mirSVR-E:-26.83 | NCRV0000000984 23342264 miR-142 chr17:56408652 A Dominant 56 DLBCL cases EFO_0000403 N/A increasing risk diffuse large B-cell lymphoma chr17:56408652-A of hsa-mir-142 and its dysfunction is significantly associated with the increasing risk of Diffuse large b-cell lymphoma by using analysis of sequence variation in 56 DLBCL cases 0.4 MicroRNA-142 is mutated in about 20% of diffuse large B-cell lymphoma. analysis of sequence variation hsa-mir-142 miRNA Diffuse large b-cell lymphoma 0.33 TTAGTAGTGC(T > A)TTCTACTTTA chr17:56408652 - - - GeneName:MIR4736; CADD_Score:1; Consquence:downstream; GeneID:ENSG00000264399; TranscriptID:ENST00000581591; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:BZRAP1; CADD_Score:1; Consquence:upstream; GeneID:ENSG00000005379; TranscriptID:ENST00000343736; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR142; CADD_Score:5; Consquence:noncoding_change; GeneID:ENSG00000265206; TranscriptID:ENST00000579003; AnnoType:NonCodingTranscript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD_Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000283927; AnnoType:RegulatoryFeature; mirSVR-Score:NA; mirSVR-E:NA | GeneName:BZRAP1-AS1; CADD_Score:2; Consquence:intronic; GeneID:ENSG00000265148; TranscriptID:ENST00000579527; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000985 22990020 NONHSAT214890.1 rs6976053 ? N/A 19,599 european ancestry individuals; 10,764 european ancestry individuals EFO_0001360 N/A Associate Plasminogen activator inhibitor type 1 levels (pai-1) rs6976053-? of NONHSAT214890.1 is significantly associated with the plasminogen activator inhibitor type 1 levels (pai-1) by using GWAS analysis in 19,599 european ancestry individuals; 10,764 european ancestry individuals(p-value = 6E-13 ;OR = 0.048). 0.4 Genome-wide association study for circulating levels of PAI-1 provides novel insights into its regulation. genome-wide association analysis NONHSAT214890.1 lncRNA Type ii diabetes mellitus 0.33 CAAGGTCTCA(C > A,T)GCCTAGGTCA chr7: 100914499 0.5216,.,0.4784 0.57970979867482161,.,0.42029020132517838 Region score:0.32; TSS score:0.27; Unmatched score:0.12; Average GERP:-0.07978217821782187 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000986 21297633 NONHSAT189170.1 rs2297441 A N/A 6,687 european ancestry cases//19,718 european ancestry controls; 9,628 european ancestry cases//12,917 european ancestry controls EFO_0000729 N/A Associate Ulcerative colitis rs2297441-A of NONHSAT189170.1 is significantly associated with the ulcerative colitis by using GWAS analysis in 6,687 european ancestry cases//19,718 european ancestry controls; 9,628 european ancestry cases//12,917 european ancestry controls(p-value = 2E-10 ;OR = 1.09). 0.4 Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. genome-wide association analysis NONHSAT189170.1 lncRNA Ulcerative colitis 0.33 CTCTAATAAA(G > A,C)CTGCTGGCAG chr20: 63696229 0.265,0.735,. 0.13419023955147808,0.78751752038735983,0.07829224006116207 Region score:0.42; TSS score:0.53; Unmatched score:0.85; Average GERP:-1.5018851485148512 GeneName:ARFRP1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000101246; TranscriptID:ENST00000622789; AnnoType:DOWNSTREAM; mirSVR-Score:-0.1473; mirSVR-E:-15.40 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000657797; AnnoType:REGULATORY; mirSVR-Score:-0.1473; mirSVR-E:-15.40 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000657798; AnnoType:REGULATORY; mirSVR-Score:-0.1473; mirSVR-E:-15.40 | GeneName:RTEL1; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000258366; TranscriptID:ENST00000360203; AnnoType:3PRIME_UTR; mirSVR-Score:-0.1473; mirSVR-E:-15.40 | GeneName:RTEL1-TNFRSF6B; CADD-Score:2; Consquence:intron,NMD; GeneID:ENSG00000026036; TranscriptID:ENST00000492259; AnnoType:INTRONIC; mirSVR-Score:-0.1473; mirSVR-E:-15.40 | GeneName:TNFRSF6B; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000243509; TranscriptID:ENST00000369996; AnnoType:UPSTREAM; mirSVR-Score:-0.1473; mirSVR-E:-15.40 | NCRV0000000987 24770678 mir-608 rs4919510 C Dominant 504 patients with escc EFO_0005922 N/A Better prognosis Esophageal squamous cell carcinoma rs4919510-C of mir-608 and its dysfunction is significantly associated with the better prognosis of esophageal squamous cell carcinoma by using analysis of sequence variation in 504 patients with ESCC. 0.4 Association of miRNA-related genetic polymorphisms and prognosis in patients with esophageal squamous cell carcinoma. analysis of sequence variation hsa-mir-608 miRNA Esophageal squamous cell cancer 0.33 TGGGACAGCT(C > G)CGTTTAAAAA chr10: 100975021 0.6362,0.3638 0.70305332568807339,0.29694667431192660 Region score:0.54; TSS score:0.1; Unmatched score:0.51; Average GERP:-0.18896138613861369 GeneName:MIR608; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207551; TranscriptID:ENST00000384820; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MRPL43; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000055950; TranscriptID:ENST00000318325; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SEMA4G; CADD-Score:2; Consquence:intron; GeneID:ENSG00000095539; TranscriptID:ENST00000210633; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000988 26192919 NONHSAT206871.1 rs17119 G N/A 5,956 european ancestry cases//14,927 european ancestry controls; 14,594 european ancestry cases//26,715 european ancestry controls//151 iranian ancestry cases//342 iranian ancestry controls//184 indian ancestry cases//990 indian ancestry controls//1,690 east asian ancestry cases//3,719 east asian ancestry controls EFO_0000384 N/A Associate Crohn's disease rs17119-G of NONHSAT206871.1 is significantly associated with the crohn's disease by using GWAS analysis in 5,956 european ancestry cases//14,927 european ancestry controls; 14,594 european ancestry cases//26,715 european ancestry controls//151 iranian ancestry cases//342 iranian ancestry controls//184 indian ancestry cases//990 indian ancestry controls//1,690 east asian ancestry cases//3,719 east asian ancestry controls(p-value = 2E-8 ;OR = 1.0885191). 0.4 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. genome-wide association analysis NONHSAT206871.1 lncRNA Crohn's disease 0.451 TTATTACAGT(G > A)GGATTAGAGT chr6: 14719265 0.2738,0.7262 0.26280581039755351,0.73719418960244648 Region score:0.29; TSS score:0.2; Unmatched score:0.09; Average GERP:-0.5867900990099011 GeneName:AL138720.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000234261; TranscriptID:ENST00000629853; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000988 28067908 NONHSAT206871.1 rs17119 ? N/A 12,194 european and unknown ancestry cases//28,072 european and unknown ancestry controls EFO_0000384 N/A Associate Crohn's disease rs17119-? of NONHSAT206871.1 is significantly associated with the crohn's disease by using GWAS analysis in 12,194 european and unknown ancestry cases//28,072 european and unknown ancestry controls(p-value = 2E-7 ;OR = ?). 0.4 Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease. genome-wide association analysis NONHSAT206871.1 lncRNA Crohn's disease 0.451 TTATTACAGT(G > A)GGATTAGAGT chr6: 14719265 0.2738,0.7262 0.26280581039755351,0.73719418960244648 Region score:0.29; TSS score:0.2; Unmatched score:0.09; Average GERP:-0.5867900990099011 GeneName:AL138720.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000234261; TranscriptID:ENST00000629853; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000989 19198613 NONHSAT168306.1 rs944289 T N/A 192 european ancestry cases//37,196 european ancestry controls; 432 european ancestry cases//1,727 european ancestry controls EFO_0002892 N/A Associate Thyroid cancer rs944289-T of NONHSAT168306.1 is significantly associated with the thyroid cancer by using GWAS analysis in 192 european ancestry cases//37,196 european ancestry controls; 432 european ancestry cases//1,727 european ancestry controls(p-value = 2E-9 ;OR = 1.37). 0.4 Common variants on 9q22.33 and 14q13.3 predispose to thyroid cancer in European populations. genome-wide association analysis NONHSAT168306.1 lncRNA Thyroid cancer 0.33 ATAGTCATTG(C > T)AGATTTGTAA chr14: 36180040 0.607,0.393 0.56618724515800203,0.43381275484199796 Region score:0.41; TSS score:0.36; Unmatched score:0.16; Average GERP:0.2396336633663368 GeneName:PTCSC3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000259104; TranscriptID:ENST00000556013; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000990 23922111 miRNA-126 rs4636297 G N/a 230 patients from a randomised phase iii study EFO_0005842 N/A Decreasing risk Colorectal cancer rs4636297-G of miRNA-126 and its dysfunction is significantly associated with the decreasing risk of colorectal cancer by using analysis of sequence variation in 230 patients from a randomised phase III study. By using the disease cell lines or tissues, the interference and mutation of miRNA-126 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 MicroRNA-126 and epidermal growth factor-like domain 7-an angiogenic couple of importance in metastatic colorectal cancer. Results from the Nordic ACT trial. analysis of sequence variation; Function hsa-mir-126 miRNA Colorectal cancer 0.593 CGCATCGAAA(A > G)CGCCGCTGAG chr9: 136670698 0.3057,0.6943 0.35495508409785932,0.64504491590214067 Region score:0.32; TSS score:0.31; Unmatched score:0.76; Average GERP:0.7106336633663374 GeneName:AGPAT2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000169692; TranscriptID:ENST00000371696; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:EGFL7; CADD-Score:2; Consquence:intron; GeneID:ENSG00000172889; TranscriptID:ENST00000371699; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR126; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000199161; TranscriptID:ENST00000362291; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000243058; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000338220; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000991 29059683 NONHSAT160012.1 rs217727 A N/A 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls EFO_0000305 N/A Associate Breast cancer rs217727-A of NONHSAT160012.1 is significantly associated with the breast cancer by using GWAS analysis in 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls(p-value = 4E-14 ;OR = 0.0598). 0.4 Association analysis identifies 65 new breast cancer risk loci. genome-wide association analysis NONHSAT160012.1 lncRNA Breast cancer 0.33 TCAACCGTCC(G > A)CCGCAGGGGG chr11: 1995678 N/A 1 Region score:0.7; TSS score:0.82; Unmatched score:0.94; Average GERP:-0.47433900495049497 GeneName:H19; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000130600; TranscriptID:ENST00000414790; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.5598; mirSVR-E:-26.23 | GeneName:LINC01219; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000232987; TranscriptID:ENST00000418612; AnnoType:DOWNSTREAM; mirSVR-Score:-0.5598; mirSVR-E:-26.23 | GeneName:MIR675; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000284010; TranscriptID:ENST00000390168; AnnoType:DOWNSTREAM; mirSVR-Score:-0.5598; mirSVR-E:-26.23 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000035875; AnnoType:REGULATORY; mirSVR-Score:-0.5598; mirSVR-E:-26.23 | GeneName:RF01972; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000275266; TranscriptID:ENST00000617997; AnnoType:UPSTREAM; mirSVR-Score:-0.5598; mirSVR-E:-26.23 | GeneName:RF01973; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000274866; TranscriptID:ENST00000620857; AnnoType:UPSTREAM; mirSVR-Score:-0.5598; mirSVR-E:-26.23 | NCRV0000000992 29228715 NONHSAT000998.2 rs11803759 ? N/A 978 austrian ancestry cases//4,294 european ancestry controls EFO_0005842 N/A Associate Colorectal cancer rs11803759-? of NONHSAT000998.2 is significantly associated with the colorectal cancer by using GWAS analysis in 978 austrian ancestry cases//4,294 european ancestry controls(p-value = 6E-6 ;OR = 1.851). 0.4 Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas. genome-wide association analysis NONHSAT000998.2 lncRNA Colorectal cancer 0.33 TGCTGTATGT(C > T)GTCATGTCTC chr1: 14338636 0.8958,0.1042 0.89275133792048929,0.10724866207951070 Region score:0.35; TSS score:0.22; Unmatched score:0.08; Average GERP:-0.37505445544554455 GeneName:KAZN; CADD-Score:2; Consquence:intron; GeneID:ENSG00000189337; TranscriptID:ENST00000636203; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000347959; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000993 28928442 NONHSAT210846.1 rs185225639 ? N/A 17,457 european ancestry cases//68,446 european ancestry controls EFO_0008403 N/A Associate Mononucleosis rs185225639-? of NONHSAT210846.1 is significantly associated with the mononucleosis by using GWAS analysis in 17,457 european ancestry cases//68,446 european ancestry controls(p-value = 5E-6 ;OR = 6.6905). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. genome-wide association analysis NONHSAT210846.1 lncRNA Susceptibility to mononucleosis measurement 0.33 TAGGAGATAG(A > G)CTGTTGTACC chr6: 95693959 0.999,0.0009984 0.99980886850152905,0.00019113149847094 Region score:0.41; TSS score:0.23; Unmatched score:0.03; Average GERP:0.054087128712871226 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000994 27863252 NONHSAT056011.2 rs549579958 C N/A 170,763 european ancestry individuals EFO_0007986 N/A Associate High light scatter reticulocyte count rs549579958-C of NONHSAT056011.2 is significantly associated with the high light scatter reticulocyte count by using GWAS analysis in 170,763 european ancestry individuals(p-value = 2E-29 ;OR = 0.3300637). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT056011.2 lncRNA Reticulocyte count 0.33 CACCTTCCTG(CG > C)GTCTGGCAGC chr17: 76387026 0.997,0.002995 0.99809664882772680,0.00190335117227319 N/A GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000564715; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PRPSAP1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000161542; TranscriptID:ENST00000423915; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SPHK1; CADD-Score:7; Consquence:frameshift; GeneID:ENSG00000176170; TranscriptID:ENST00000323374; AnnoType:FRAME_SHIFT; mirSVR-Score:NA; mirSVR-E:NA | GeneName:UBE2O; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000175931; TranscriptID:ENST00000319380; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000995 21573907 NONHSAT031256.2 rs7305618 C N/A 1,804 hispanic cases//780 hispanic controls; european ancestry individuals EFO_0001360 N/A Associate Type 2 diabetes rs7305618-C of NONHSAT031256.2 is significantly associated with the type 2 diabetes by using GWAS analysis in 1,804 hispanic cases//780 hispanic controls; european ancestry individuals(p-value = 2E-8 ;OR = 1.14). 0.4 Genome-wide association study of type 2 diabetes in a sample from Mexico City and a meta-analysis of a Mexican-American sample from Starr County, Texas. genome-wide association analysis NONHSAT031256.2 lncRNA Type ii diabetes mellitus 0.33 GATCGCTTCT(C > T)CTGTCTCCAC chr12: 120965129 0.6442,0.3558 0.70208174057084607,0.29791825942915392 Region score:0.25; TSS score:0.28; Unmatched score:0.29; Average GERP:-0.5760663366336634 GeneName:HNF1A-AS1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000241388; TranscriptID:ENST00000539163; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000996 19305409 NONHSAT176516.1 rs17779747 T N/A 15,842 european ancestry individuals; up to 13,602 individuals EFO_0004278 N/A Associate Qt interval rs17779747-T of NONHSAT176516.1 is significantly associated with the qt interval by using GWAS analysis in 15,842 european ancestry individuals; up to 13,602 individuals(p-value = 6E-12 ;OR = 1.02). 0.4 Common variants at ten loci modulate the QT interval duration in the QTSCD Study. genome-wide association analysis NONHSAT176516.1 lncRNA Sudden cardiac arrest 0.33 GGTCCAAATG(G > T)TAGCCAGAAT chr17: 70498851 0.8229,0.1771 0.76486843781855249,0.23513156218144750 Region score:0.47; TSS score:0.58; Unmatched score:0.28; Average GERP:3.0539089108910895 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000563100; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000997 27989323 NONHSAT173583.1 rs11551183 G N/A 3,494 finnish ancestry individuals EFO_0005140 N/A Associate Macrophage migration inhibitory factor levels rs11551183-G of NONHSAT173583.1 is significantly associated with the macrophage migration inhibitory factor levels by using GWAS analysis in 3,494 finnish ancestry individuals(p-value = 3E-6 ;OR = 0.3715). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. genome-wide association analysis NONHSAT173583.1 lncRNA Autoimmune disease 0.33 TTCGCTTCAT(C > G)ACTTCTCGAA chr16: 8894835 0.9896,0.01038 0.97852159785932721,0.02147840214067278 Region score:0.43; TSS score:0.46; Unmatched score:0.59; Average GERP:2.1672079207920794 GeneName:USP7; CADD-Score:5; Consquence:synonymous; GeneID:ENSG00000187555; TranscriptID:ENST00000344836; AnnoType:SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000000998 19165155 NONHSAT196733.1 rs6773957 A N/A 997 european ancestry cases//989 european ancestry controls EFO_0000319 N/A Associate Adiponectin levels rs6773957-A of NONHSAT196733.1 is significantly associated with the adiponectin levels by using GWAS analysis in 997 european ancestry cases//989 european ancestry controls(p-value = 5E-8 ;OR = ?). 0.4 Genome-wide linkage and association analyses to identify genes influencing adiponectin levels: the GEMS Study. genome-wide association analysis NONHSAT196733.1 lncRNA Cardiovascular disease 0.33 CTTGAATCCC(A > G)TATCTACCCA chr3: 186855916 0.5022,0.4978 0.45936862895005096,0.54063137104994903 Region score:0.3; TSS score:0.62; Unmatched score:0.71; Average GERP:0.14731584158415845 GeneName:ADIPOQ-AS1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000226482; TranscriptID:ENST00000422718; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.8073; mirSVR-E:-25.65 | GeneName:ADIPOQ; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000181092; TranscriptID:ENST00000444204; AnnoType:3PRIME_UTR; mirSVR-Score:-0.8073; mirSVR-E:-25.65 | NCRV0000000999 23517042 NONHSAT175312.1 rs8074700 A N/A 6,025 european ancestry children//567 children// 6,334 european ancestry adult individuals//2,050 adult individuals EFO_0001073 in non-asthmatics Associate Body mass index in non-asthmatics rs8074700-A of NONHSAT175312.1 is significantly associated with the body mass index in non-asthmatics by using GWAS analysis in 6,025 european ancestry children//567 children// 6,334 european ancestry adult individuals//2,050 adult individuals(p-value = 1E-6 ;OR = ?). 0.4 Genome-wide association study of body mass index in 23 000 individuals with and without asthma. genome-wide association analysis NONHSAT175312.1 lncRNA Obesity 0.33 GCTTTTCACT(A > C)AGTTGATCGC chr17: 48672429 0.3317,0.6683 0.32165042048929663,0.67834957951070336 Region score:0.33; TSS score:0.43; Unmatched score:0.35; Average GERP:0.5147722772277228 GeneName:LINC02086; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000244649; TranscriptID:ENST00000628006; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000557733; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001000 23251661 NONHSAT047580.2 rs8040868 G N/A 815 hispanic children from 263 families EFO_0005109 N/A Associate Obesity-related traits rs8040868-G of NONHSAT047580.2 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 6E-8 ;OR = 0.05). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. genome-wide association analysis NONHSAT047580.2 lncRNA Energy expenditure 0.33 ACACGTTGGC(T > C)ACAGGCCGGA chr15: 78618839 0.6715,0.3285 0.62953140927624872,0.37046859072375127 Region score:0.47; TSS score:0.65; Unmatched score:0.88; Average GERP:3.0833564356435654 GeneName:CHRNA3; CADD-Score:5; Consquence:synonymous; GeneID:ENSG00000080644; TranscriptID:ENST00000326828; AnnoType:SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000278483; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001001 25646338 NONHSAT159177.1 rs174535 T N/A 8,013 european ancestry individuals; 1,082 african american individuals//669 chinese ancestry individuals//657 hispanic individuals EFO_0006821 N/A Associate Trans fatty acid levels rs174535-T of NONHSAT159177.1 is significantly associated with the trans fatty acid levels by using GWAS analysis in 8,013 european ancestry individuals; 1,082 african american individuals//669 chinese ancestry individuals//657 hispanic individuals(p-value = 1E-13 ;OR = 0.0031). 0.4 Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium. genome-wide association analysis NONHSAT159177.1 lncRNA Trans fatty acid measurement 0.33 TCCCTGTCAG(T > C)AGTGGCACCC chr11: 61783884 0.6599,0.3401 0.68089799949031600,0.31910200050968399 Region score:0.3; TSS score:0.23; Unmatched score:0.42; Average GERP:2.6233049504950494 GeneName:MYRF; CADD-Score:5; Consquence:synonymous; GeneID:ENSG00000124920; TranscriptID:ENST00000278836; AnnoType:SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000040336; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TMEM258; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000134825; TranscriptID:ENST00000535042; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001002 22778062 SNORA17 rs2275159 T N/a N/a function N/A Not significant changes in the structure Function rs2275159-T of SNORA17 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORA17 snoRNA Function -0.049 CGCCTCTAGG(G > A)GCAGTGTCCT chr9: 136726874 0.9487,0.05132 0.97704032874617737,0.02295967125382262 Region score:0.33; TSS score:0.4; Unmatched score:0.75; Average GERP:0.42910792079207927 GeneName:AL355987.5; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000274356; TranscriptID:ENST00000621585; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:DIPK1B; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000165716; TranscriptID:ENST00000371692; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000243072; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000898195; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF00560; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000281808; TranscriptID:ENST00000630429; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNHG7; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000233016; TranscriptID:ENST00000414282; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORA17A; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000274998; TranscriptID:ENST00000391185; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORA17B; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000276161; TranscriptID:ENST00000362567; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORA17B; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000280496; TranscriptID:ENST00000626886; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001003 21909109 NONHSAT181702.1 rs895636 A N/A 12,545 korean ancestry individuals; up to 30,395 east asian ancestry individuals EFO_0004465 N/A Associate Metabolite levels rs895636-A of NONHSAT181702.1 is significantly associated with the metabolite levels by using GWAS analysis in 12,545 korean ancestry individuals; up to 30,395 east asian ancestry individuals(p-value = 1E-12 ;OR = 0.0393). 0.4 Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits. genome-wide association analysis NONHSAT181702.1 lncRNA Fasting blood glucose measurement 0.33 GTCTCCTCCT(C > T)GGTTGTTTGG chr2: 44961214 0.7137,0.2863 0.76924057084607543,0.23075942915392456 Region score:0.37; TSS score:0.46; Unmatched score:0.52; Average GERP:-0.42998514851485165 GeneName:AC012354.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000225156; TranscriptID:ENST00000425325; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001004 21908519 NONHSAT164116.1 rs735396 G N/A up to 1,426 european ancestry male individuals//up to 1,941 european ancestry female individuals EFO_0004999 N/A Associate N-glycan levels rs735396-G of NONHSAT164116.1 is significantly associated with the n-glycan levels by using GWAS analysis in up to 1,426 european ancestry male individuals//up to 1,941 european ancestry female individuals(p-value = 4E-9 ;OR = 0.15703972). 0.4 Polymorphisms in B3GAT1, SLC9A9 and MGAT5 are associated with variation within the human plasma N-glycome of 3533 European adults. genome-wide association analysis NONHSAT164116.1 lncRNA N-glycan measurement 0.451 GGTGGGTGGC(T > C)AGCAGCCTTG chr12: 121001041 0.6398,0.3602 0.69172878440366972,0.30827121559633027 Region score:0.25; TSS score:0.26; Unmatched score:0.53; Average GERP:0.5721821782178215 GeneName:C12orf43; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000157895; TranscriptID:ENST00000537817; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HNF1A; CADD-Score:2; Consquence:intron; GeneID:ENSG00000135100; TranscriptID:ENST00000544413; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000472105; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001004 21203500 NONHSAT164116.1 rs735396 G N/A 2,559 european ancestry individuals EFO_0004999 N/A Associate N-glycan levels rs735396-G of NONHSAT164116.1 is significantly associated with the n-glycan levels by using GWAS analysis in 2,559 european ancestry individuals(p-value = 4E-8 ;OR = 0.17). 0.4 Genomics meets glycomics-the first GWAS study of human N-Glycome identifies HNF1alpha as a master regulator of plasma protein fucosylation. genome-wide association analysis NONHSAT164116.1 lncRNA N-glycan measurement 0.451 GGTGGGTGGC(T > C)AGCAGCCTTG chr12: 121001041 0.6398,0.3602 0.69172878440366972,0.30827121559633027 Region score:0.25; TSS score:0.26; Unmatched score:0.53; Average GERP:0.5721821782178215 GeneName:C12orf43; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000157895; TranscriptID:ENST00000537817; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HNF1A; CADD-Score:2; Consquence:intron; GeneID:ENSG00000135100; TranscriptID:ENST00000544413; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000472105; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001005 27863252 NONHSAT108210.2 rs1799945 G N/A 172,925 european ancestry individuals EFO_0004509 N/A Associate Hemoglobin concentration rs1799945-G of NONHSAT108210.2 is significantly associated with the hemoglobin concentration by using GWAS analysis in 172,925 european ancestry individuals(p-value = 2E-103 ;OR = 0.1067434). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT108210.2 lncRNA Hemoglobin measurement 0.33 GTTCTATGAT(C > G)ATGAGAGTCG chr6: 26090951 0.9269,0.07308 0.89884365443425076,0.10115634556574923 Region score:0.3; TSS score:0.25; Unmatched score:0.49; Average GERP:0.6539455445544557 GeneName:HFE; CADD-Score:7; Consquence:missense; GeneID:ENSG00000010704; TranscriptID:ENST00000357618; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001006 28360221 NONHSAT216854.1 rs12677356 T N/A 45,889 european ancestry individuals//up to 8,765 asian indian ancestry individuals//up to 7,215 african ancestry individuals; 17,637 european ancestry individuals EFO_0007967 N/A Associate Blood osmolality (transformed sodium) rs12677356-T of NONHSAT216854.1 is significantly associated with the blood osmolality (transformed sodium) by using GWAS analysis in 45,889 european ancestry individuals//up to 8,765 asian indian ancestry individuals//up to 7,215 african ancestry individuals; 17,637 european ancestry individuals(p-value = 5E-6 ;OR = 0.08). 0.4 NFAT5 and SLC4A10 Loci Associate with Plasma Osmolality. genome-wide association analysis NONHSAT216854.1 lncRNA Blood osmolality measurement 0.33 TCATATACAC(T > A,G)ACACAGAGCA chr8: 23782931 0.01577,.,0.9842 0.01130064984709480,0.01670011467889908,0.97199923547400611 Region score:0.29; TSS score:0.18; Unmatched score:0.08; Average GERP:0.7376920792079207 GeneName:AC012574.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000253471; TranscriptID:ENST00000523874; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001007 21441570 NONHSAT144195.2 rs2696835 C N/A 973 european ancestry cases//1,856 european ancestry controls EFO_0003770 N/A Associate Diabetic retinopathy rs2696835-C of NONHSAT144195.2 is significantly associated with the diabetic retinopathy by using GWAS analysis in 973 european ancestry cases//1,856 european ancestry controls(p-value = 3E-6 ;OR = 2.27). 0.4 Genome-wide meta-analysis for severe diabetic retinopathy. genome-wide association analysis NONHSAT144195.2 lncRNA Diabetic retinopathy 0.33 GTGGCCCCAA(C > G)GCAGCGTCTA chr16: 86331965 0.009585,0.9904 0.01730536442405708,0.98269463557594291 Region score:0.25; TSS score:0.33; Unmatched score:0.26; Average GERP:-0.4861267326732675 GeneName:LINC00917; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000168367; TranscriptID:ENST00000594203; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000545069; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001008 26192919 NONHSAT104582.2 rs17800987 ? N/A 12,882 european ancestry cases//21,770 european ancestry controls; 25,273 european ancestry cases//26,715 european ancestry controls//548 iranian ancestry cases//342 iranian ancestry control//1,423 indian ancestry cases//990 indian ancestry controls//2,824 east asian ancestry cases//3,719 east asian ancestry controls EFO_0003767 N/A Associate Inflammatory bowel disease rs17800987-? of NONHSAT104582.2 is significantly associated with the inflammatory bowel disease by using GWAS analysis in 12,882 european ancestry cases//21,770 european ancestry controls; 25,273 european ancestry cases//26,715 european ancestry controls//548 iranian ancestry cases//342 iranian ancestry control//1,423 indian ancestry cases//990 indian ancestry controls//2,824 east asian ancestry cases//3,719 east asian ancestry controls(p-value = 2E-31 ;OR = ?). 0.4 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. genome-wide association analysis NONHSAT104582.2 lncRNA Inflammatory bowel disease 0.33 GGTCTGAGGA(A > G)TCAGGTCTGG chr5: 150943866 0.8017,0.1983 0.85552051478083588,0.14447948521916411 Region score:0.5; TSS score:0.34; Unmatched score:0.51; Average GERP:-0.6727554455445542 GeneName:ZNF300P1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000197083; TranscriptID:ENST00000520773; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001009 27043015 MIR-196a2 rs11614913 T N/A 108 Chronic obstructive pulmonary disease male patients and 116 unrelated controls EFO_0000341 N/A no significance for risk chronic obstructive pulmonary disease rs11614913-T of hsa-mir-196a-2 and its dysfunction is not significantly associated with Chronic obstructive pulmonary disease by using case-control analysis in 108 Chronic obstructive pulmonary disease male patients and 116 unrelated controls -0.4 Association of MicroRNA-196a2 Variant with Response to Short-Acting 灏?-Agonist in COPD: An Egyptian Pilot Study. case-control analysis hsa-mir-196a-2 miRNA Chronic obstructive pulmonary disease -0.33 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001010 28346442 NONHSAT075637.2 rs711830 A N/A 2,566 european ancestry cases//40,941 european ancestry controls EFO_0006462 N/A Associate Mucinous ovarian carcinoma rs711830-A of NONHSAT075637.2 is significantly associated with the mucinous ovarian carcinoma by using GWAS analysis in 2,566 european ancestry cases//40,941 european ancestry controls(p-value = 1E-14 ;OR = 1.2736082). 0.4 Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer. genome-wide association analysis NONHSAT075637.2 lncRNA Ovarian mucinous adenocancer 0.451 GAGACCCATC(A > G)GCGGCGCGCC chr2: 176172583 0.1815,0.8185 0.23614296636085626,0.76385703363914373 Region score:0.53; TSS score:0.8; Unmatched score:0.84; Average GERP:2.5885445544554457 GeneName:AC009336.2; CADD-Score:2; Consquence:NMD,3_prime_UTR; GeneID:ENSG00000278500; TranscriptID:ENST00000468418; AnnoType:3PRIME_UTR; mirSVR-Score:-0.0979; mirSVR-E:-23.82 | GeneName:HAGLR; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000224189; TranscriptID:ENST00000452365; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0979; mirSVR-E:-23.82 | GeneName:HOXD3; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000128652; TranscriptID:ENST00000410016; AnnoType:3PRIME_UTR; mirSVR-Score:-0.0979; mirSVR-E:-23.82 | NCRV0000001010 26075790 NONHSAT075637.2 rs711830 ? N/A 1,003 european ancestry invasive cases//641 european ancestry low malignant potential cases//21,693 european ancestry controls EFO_0006462 N/A Associate Mucinous ovarian carcinoma rs711830-? of NONHSAT075637.2 is significantly associated with the mucinous ovarian carcinoma by using GWAS analysis in 1,003 european ancestry invasive cases//641 european ancestry low malignant potential cases//21,693 european ancestry controls(p-value = 8E-12 ;OR = 1.3). 0.4 Genome-wide significant risk associations for mucinous ovarian carcinoma. genome-wide association analysis NONHSAT075637.2 lncRNA Ovarian mucinous adenocancer 0.451 GAGACCCATC(A > G)GCGGCGCGCC chr2: 176172583 0.1815,0.8185 0.23614296636085626,0.76385703363914373 Region score:0.53; TSS score:0.8; Unmatched score:0.84; Average GERP:2.5885445544554457 GeneName:AC009336.2; CADD-Score:2; Consquence:NMD,3_prime_UTR; GeneID:ENSG00000278500; TranscriptID:ENST00000468418; AnnoType:3PRIME_UTR; mirSVR-Score:-0.0979; mirSVR-E:-23.82 | GeneName:HAGLR; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000224189; TranscriptID:ENST00000452365; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0979; mirSVR-E:-23.82 | GeneName:HOXD3; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000128652; TranscriptID:ENST00000410016; AnnoType:3PRIME_UTR; mirSVR-Score:-0.0979; mirSVR-E:-23.82 | NCRV0000001011 24162737 NONHSAT211955.1 rs2718058 A N/A 17,008 european ancestry cases//37,154 european ancestry controls; 8,572 european ancestry cases//11,312 european ancestry controls EFO_0000249 N/A Associate Alzheimer's disease (late onset) rs2718058-A of NONHSAT211955.1 is significantly associated with the alzheimer's disease (late onset) by using GWAS analysis in 17,008 european ancestry cases//37,154 european ancestry controls; 8,572 european ancestry cases//11,312 european ancestry controls(p-value = 5E-9 ;OR = 1.0753). 0.4 Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. genome-wide association analysis NONHSAT211955.1 lncRNA Alzheimers disease 0.33 TTTTCCTGTT(A > G,T)ATTTCCTATC chr7: 37801932 0.6633,0.3367,. 0.59500828236493374,0.39507677115188583,0.00991494648318042 Region score:0.25; TSS score:0.12; Unmatched score:0.01; Average GERP:0.10241666666666686 GeneName:EPDR1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000086289; TranscriptID:ENST00000476620; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GPR141; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000187037; TranscriptID:ENST00000461610; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001012 27342110 miR-196a2 rs11614913 T dominant 230 cancer patients (including 17 types of cancer), 26 patients with pre-cancer lesions, and 100 unrelated controls. EFO_0009259 N/A increasing risk skin carcinoma rs11614913-T of hsa-mir-196a-2 and its dysfunction is significantly associated with the increasing risk of Skin carcinoma by using case-control analysis in 230 cancer patients (including 17 types of cancer), 26 patients with pre-cancer lesions, and 100 unrelated controls. 0.4 MicroRNA-196a2 Biomarker and Targetome Network Analysis in Solid Tumors. case-control analysis hsa-mir-196a-2 miRNA Skin carcinoma 0.33 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001013 25631615 NONHSAT022168.2 rs1346 T N/A 15,087 european ancestry individuals//2,131 erasmus rucphen family individuals; 2,363 chinese ancestry individuals//2,225 malay ancestry individuals//2,025 indian ancestry individuals EFO_0004190 N/A Associate Optic cup area rs1346-T of NONHSAT022168.2 is significantly associated with the optic cup area by using GWAS analysis in 15,087 european ancestry individuals//2,131 erasmus rucphen family individuals; 2,363 chinese ancestry individuals//2,225 malay ancestry individuals//2,025 indian ancestry individuals(p-value = 2E-9 ;OR = 0.019). 0.4 Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology. genome-wide association analysis NONHSAT022168.2 lncRNA Open-angle glaucoma 0.451 GGGCGGCTGG(A > C,T)AGCGCAATGC chr11: 65569780 0.8672,.,0.1328 0.83741080530071355,.,0.16258919469928644 Region score:0.34; TSS score:0.54; Unmatched score:0.93; Average GERP:-0.6492153960396039 GeneName:FAM89B; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000176973; TranscriptID:ENST00000530349; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000264463; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000432731; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SSSCA1-AS1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000260233; TranscriptID:ENST00000623234; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SSSCA1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000173465; TranscriptID:ENST00000309328; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001013 28073927 NONHSAT022168.2 rs1346 T N/A 20,353 european ancestry individuals//2,131 erasmus rucphen (founder/genetic isolate) individuals; 7,333 asian ancestry individuals EFO_0004190 N/A Associate Optic cup area rs1346-T of NONHSAT022168.2 is significantly associated with the optic cup area by using GWAS analysis in 20,353 european ancestry individuals//2,131 erasmus rucphen (founder/genetic isolate) individuals; 7,333 asian ancestry individuals(p-value = 2E-12 ;OR = 0.023). 0.4 New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics. genome-wide association analysis NONHSAT022168.2 lncRNA Open-angle glaucoma 0.451 GGGCGGCTGG(A > C,T)AGCGCAATGC chr11: 65569780 0.8672,.,0.1328 0.83741080530071355,.,0.16258919469928644 Region score:0.34; TSS score:0.54; Unmatched score:0.93; Average GERP:-0.6492153960396039 GeneName:FAM89B; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000176973; TranscriptID:ENST00000530349; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000264463; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000432731; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SSSCA1-AS1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000260233; TranscriptID:ENST00000623234; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SSSCA1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000173465; TranscriptID:ENST00000309328; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001014 20383146 NONHSAT217977.1 rs10109414 T N/A up to 67,093 european ancestry individuals; up to 22,982 european ancestry individuals EFO_0003884 N/A Associate Chronic kidney disease rs10109414-T of NONHSAT217977.1 is significantly associated with the chronic kidney disease by using GWAS analysis in up to 67,093 european ancestry individuals; up to 22,982 european ancestry individuals(p-value = 1E-8 ;OR = ?). 0.4 New loci associated with kidney function and chronic kidney disease. genome-wide association analysis NONHSAT217977.1 lncRNA Chronic kidney disease 0.52 ATATGACATG(C > T)AGAAAAATTA chr8: 23893638 0.7087,0.2913 0.63747133027522935,0.36252866972477064 Region score:0.32; TSS score:0.22; Unmatched score:0.13; Average GERP:0.3096236559139785 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000850174; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001014 26831199 NONHSAT217977.1 rs10109414 T N/A 118,448 european ancestry individuals; 36,433 european ancestry individuals EFO_0003884 N/A Associate Glomerular filtration rate in non diabetics (creatinine) rs10109414 -T of NONHSAT217977.1 is significantly associated with the glomerular filtration rate in non diabetics (creatinine) by using GWAS analysis in 118,448 european ancestry individuals; 36,433 european ancestry individuals(p-value = 4E-16 ;OR = 0.0075). 0.4 Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function. genome-wide association analysis NONHSAT217977.1 lncRNA Chronic kidney disease 0.52 ATATGACATG(C > T)AGAAAAATTA chr8: 23893638 0.7087,0.2913 0.63747133027522935,0.36252866972477064 Region score:0.32; TSS score:0.22; Unmatched score:0.13; Average GERP:0.3096236559139785 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000850174; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001014 27588450 NONHSAT217977.1 rs10109414 T N/A 23,553 european ancestry individuals//23,536 japanese individuals//16,325 hispanic individuals//8,224 african american individuals EFO_0003884 N/A Associate Glomerular filtration rate rs10109414-T of NONHSAT217977.1 is significantly associated with the glomerular filtration rate by using GWAS analysis in 23,553 european ancestry individuals//23,536 japanese individuals//16,325 hispanic individuals//8,224 african american individuals(p-value = 3E-7 ;OR = 0.605). 0.4 Trans-ethnic Fine Mapping Highlights Kidney-Function Genes Linked to Salt Sensitivity. genome-wide association analysis NONHSAT217977.1 lncRNA Chronic kidney disease 0.52 ATATGACATG(C > T)AGAAAAATTA chr8: 23893638 0.7087,0.2913 0.63747133027522935,0.36252866972477064 Region score:0.32; TSS score:0.22; Unmatched score:0.13; Average GERP:0.3096236559139785 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000850174; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001015 25841663 miR-124 rs531564 C Dominant 170 young subjects HP_0000718 N/A Increasing risk Aggressiveness rs531564-C of miR-124 and its dysfunction is significantly associated with the increasing risk of aggressiveness by using analysis of sequence variation in 170 young subjects. 0.4 A functional SNP in MIR124-1, a brain expressed miRNA gene, is associated with aggressiveness in a Colombian sample. analysis of sequence variation hsa-mir-124-1 miRNA Aggressive behavior 0.33 CCCTGAGTCT(G > C)TTTGCATCTC chr8: 9903189 0.87,0.13 0.86338079765545361,0.13661920234454638 Region score:0.48; TSS score:0.58; Unmatched score:0.92; Average GERP:0.641257425742574 GeneName:LINC00599; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253230; TranscriptID:ENST00000517675; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR124-1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000284321; TranscriptID:ENST00000385275; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000847381; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001016 21793975 miR-186 hsa-mir-186 Deletion - Dominant 48 medulloblastomas EFO_0002939 N/A Increasing risk Medulloblastomas Deletion of miR-186 and its dysfunction is significantly associated with the increasing risk of medulloblastomas by using analysis of sequence variation in 48 medulloblastomas. 0.4 Genetic alterations in microRNAs in medulloblastomas. analysis of sequence variation; Function hsa-mir-186 miRNA Medulloblastoma 0.33 N/A N/A N/A N/A N/A N/A NCRV0000001017 24920014 NONHSAT217627.1 rs2019960 C N/A 1,816 european ancestry cases//7,877 european ancestry controls; 1,281 european ancestry cases//3,218 european ancestry controls EFO_0000183 N/A Associate Hodgkin's lymphoma rs2019960-C of NONHSAT217627.1 is significantly associated with the hodgkin's lymphoma by using GWAS analysis in 1,816 european ancestry cases//7,877 european ancestry controls; 1,281 european ancestry cases//3,218 european ancestry controls(p-value = 7E-8 ;OR = 1.3). 0.4 A meta-analysis of Hodgkin lymphoma reveals 19p13.3 TCF3 as a novel susceptibility locus. genome-wide association analysis NONHSAT217627.1 lncRNA Hodgkins lymphoma 0.52 CCGCTCTTTT(T > C)GGAAGTGACC chr8: 128180025 0.7558,0.2442 0.72873662079510703,0.27126337920489296 Region score:0.35; TSS score:0.23; Unmatched score:0.29; Average GERP:-1.3905544554455445 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001017 21037568 NONHSAT217627.1 rs2019960 G N/A 589 european ancestry cases//5,199 european ancestry controls; 2,057 european ancestry cases//3,416 european ancestry controls EFO_0000183 N/A Associate Hodgkin's lymphoma rs2019960-G of NONHSAT217627.1 is significantly associated with the hodgkin's lymphoma by using GWAS analysis in 589 european ancestry cases//5,199 european ancestry controls; 2,057 european ancestry cases//3,416 european ancestry controls(p-value = 1E-13 ;OR = 1.33). 0.4 A genome-wide association study of Hodgkin's lymphoma identifies new susceptibility loci at 2p16.1 (REL), 8q24.21 and 10p14 (GATA3). genome-wide association analysis NONHSAT217627.1 lncRNA Hodgkins lymphoma 0.52 CCGCTCTTTT(T > C)GGAAGTGACC chr8: 128180025 0.7558,0.2442 0.72873662079510703,0.27126337920489296 Region score:0.35; TSS score:0.23; Unmatched score:0.29; Average GERP:-1.3905544554455445 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001017 24149102 NONHSAT217627.1 rs2019960 G N/A 1,465 european ancestry cases//6,417 european ancestry controls; 1,071 european ancestry cases//953 cases//1,853 controls EFO_0000183 N/A Associate Hodgkin's lymphoma rs2019960-G of NONHSAT217627.1 is significantly associated with the hodgkin's lymphoma by using GWAS analysis in 1,465 european ancestry cases//6,417 european ancestry controls; 1,071 european ancestry cases//953 cases//1,853 controls(p-value = 6E-10 ;OR = 1.37). 0.4 Variation at 3p24.1 and 6q23.3 influences the risk of Hodgkin's lymphoma. genome-wide association analysis NONHSAT217627.1 lncRNA Hodgkins lymphoma 0.52 CCGCTCTTTT(T > C)GGAAGTGACC chr8: 128180025 0.7558,0.2442 0.72873662079510703,0.27126337920489296 Region score:0.35; TSS score:0.23; Unmatched score:0.29; Average GERP:-1.3905544554455445 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001018 24065649 miR-34b/c rs4938723 C N/a 590 patients and 672 controls in a han chinese population EFO_0005207 N/A No significance for risk Congenital heart disease rs4938723-C of miR-34b/c and its dysfunction is not significantly associated with congenital heart disease by using case-control analysis in 590 patients and 672 controls in a Han Chinese population. -0.4 Single-nucleotide polymorphism of the pri-miR-34b/c gene is not associated with susceptibility to congenital heart disease in the Han Chinese population. case-control analysis hsa-mir-34b miRNA Congenital heart disease -0.33 TTTGACCTAT(T > C)ACAGCTCTCA chr11: 111511840 0.7143,0.2857 0.67424025229357798,0.32575974770642201 Region score:0.24; TSS score:0.41; Unmatched score:0.71; Average GERP:-0.7293356435643562 GeneName:AP002008.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000254980; TranscriptID:ENST00000530283; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:BTG4; CADD-Score:2; Consquence:intron; GeneID:ENSG00000137707; TranscriptID:ENST00000356018; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:C11orf88; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000183644; TranscriptID:ENST00000332814; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR34B; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207811; TranscriptID:ENST00000385076; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR34C; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207562; TranscriptID:ENST00000384831; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001019 29037553 microRNA-222 rs2858060 CG N/A 205 patients with polycystic ovary syndrome and 205 normal women as the control group. EFO_0000660 N/A no significance for risk polycystic ovary syndrome rs2858060-CG of hsa-mir-222 and its dysfunction is not significantly associated with Polycystic ovary syndrome by using case-control analysis in 205 patients with polycystic ovary syndrome and 205 normal women as the control group. -0.4 Association of miR-146a rs2910164 and miR-222 rs2858060 polymorphisms with the risk of polycystic ovary syndrome in Iranian women: A case-control study. case-control analysis hsa-mir-222 miRNA Polycystic ovary syndrome -0.33 AAATTCTTTC(G > A,C)TGTTACGAAC chrX: 45747602 0.5409,.,0.4591 0.59515959480122324,0.00090787461773700,0.40393253058103975 Region score:0.28; TSS score:0.22; Unmatched score:0.36; Average GERP:-0.17751683168316823 GeneName:MIR221; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207870; TranscriptID:ENST00000385135; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR222; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207725; TranscriptID:ENST00000384992; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR222HG; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000270069; TranscriptID:ENST00000602461; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001020 22778062 SNORD115-30 rs72546393 A N/a N/a function N/A Not significant changes in the structure Function rs72546393-A of SNORD115-30 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD115-30 snoRNA Function -0.049 ATAGGATTAC(G > A,C,T)CTGAGGCCCA chr15: 25225275 N/A 0.99255383537206931,0.00743023700305810,0.00000796381243628,0.00000796381243628 Region score:0.45; TSS score:0.09; Unmatched score:0.5; Average GERP:0.20292772277227691 GeneName:SNHG14; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000224078; TranscriptID:ENST00000453082; AnnoType:INTRONIC; mirSVR-Score:-0.0307; mirSVR-E:-17.97 | GeneName:SNORD115-27; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000201300; TranscriptID:ENST00000364430; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0307; mirSVR-E:-17.97 | GeneName:SNORD115-28; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000200801; TranscriptID:ENST00000363931; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0307; mirSVR-E:-17.97 | GeneName:SNORD115-29; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000199704; TranscriptID:ENST00000362834; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0307; mirSVR-E:-17.97 | GeneName:SNORD115-30; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000200987; TranscriptID:ENST00000364117; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0307; mirSVR-E:-17.97 | GeneName:SNORD115-31; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000202188; TranscriptID:ENST00000365318; AnnoType:UPSTREAM; mirSVR-Score:-0.0307; mirSVR-E:-17.97 | GeneName:SNORD115-32; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000200949; TranscriptID:ENST00000364079; AnnoType:UPSTREAM; mirSVR-Score:-0.0307; mirSVR-E:-17.97 | NCRV0000001021 26053186 NONHSAT115283.2 rs76846186 ? N/A 362 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//438 european ancestry current smoker individuals//449 latino current smoker individuals//704 japanese ancestry current smoker individuals EFO_0001071 in smokers Associate 3-hydroxypropylmercapturic acid levels in smokers rs76846186-? of NONHSAT115283.2 is significantly associated with the 3-hydroxypropylmercapturic acid levels in smokers by using GWAS analysis in 362 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//438 european ancestry current smoker individuals//449 latino current smoker individuals//704 japanese ancestry current smoker individuals(p-value = 2E-8 ;OR = 1.4779). 0.4 Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer. genome-wide association analysis NONHSAT115283.2 lncRNA Lung cancer 0.33 ATAACAAACT(A > G)TGGGGAGAGG chr6: 140195831 0.99,0.009984 0.99546859072375127,0.00453140927624872 Region score:0.38; TSS score:0.05; Unmatched score:0; Average GERP:0.10474257425742559 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001022 19084217 NONHSAT214557.1 rs29880 ? N/A 459 european ancestry twin pairs EFO_0006334 N/A Associate Iron status biomarkers rs29880-? of NONHSAT214557.1 is significantly associated with the iron status biomarkers by using GWAS analysis in 459 european ancestry twin pairs(p-value = 7E-6 ;OR = ?). 0.4 Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels. genome-wide association analysis NONHSAT214557.1 lncRNA Total iron binding capacity 0.33 ATCTGAAATC(A > G)GAGAGGAAGG chr7: 40914882 0.8365,0.1635 0.84679217635066258,0.15320782364933741 Region score:0.26; TSS score:0.21; Unmatched score:0.11; Average GERP:0.10234306930693071 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001023 19060911 NONHSAT179794.1 rs439401 G N/A 17,100 european ancestry individuals//715 orcadian individuals EFO_0000319 N/A Associate Triglycerides rs439401-G of NONHSAT179794.1 is significantly associated with the triglycerides by using GWAS analysis in 17,100 european ancestry individuals//715 orcadian individuals(p-value = 2E-9 ;OR = 0.09). 0.4 Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. genome-wide association analysis NONHSAT179794.1 lncRNA Cardiovascular disease 0.52 CACTCTCTTC(T > C)CCTCCCACCC chr19: 44911194 0.405,0.595 0.33394654689092762,0.66605345310907237 Region score:0.4; TSS score:0.49; Unmatched score:0.53; Average GERP:-0.639925742574257 GeneName:AC011481.3; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000280087; TranscriptID:ENST00000623895; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:APOC1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000130208; TranscriptID:ENST00000588750; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:APOE; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000130203; TranscriptID:ENST00000252486; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000110120; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000591179; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001023 20686565 NONHSAT179794.1 rs439401 T N/A 96,598 european ancestry individuals EFO_0000319 N/A Associate Triglycerides rs439401-T of NONHSAT179794.1 is significantly associated with the triglycerides by using GWAS analysis in 96,598 european ancestry individuals(p-value = 1E-30 ;OR = 5.5). 0.4 Biological, clinical and population relevance of 95 loci for blood lipids. genome-wide association analysis NONHSAT179794.1 lncRNA Cardiovascular disease 0.52 CACTCTCTTC(T > C)CCTCCCACCC chr19: 44911194 0.405,0.595 0.33394654689092762,0.66605345310907237 Region score:0.4; TSS score:0.49; Unmatched score:0.53; Average GERP:-0.639925742574257 GeneName:AC011481.3; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000280087; TranscriptID:ENST00000623895; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:APOC1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000130208; TranscriptID:ENST00000588750; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:APOE; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000130203; TranscriptID:ENST00000252486; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000110120; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000591179; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001023 21386085 NONHSAT179794.1 rs439401 C N/A 22,161 european ancestry individuals EFO_0000319 N/A Associate Hdl cholesterol - triglycerides (hdlc-tg) rs439401-C of NONHSAT179794.1 is significantly associated with the hdl cholesterol - triglycerides (hdlc-tg) by using GWAS analysis in 22,161 european ancestry individuals(p-value = 1E-8 ;OR = 0.24). 0.4 A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium. genome-wide association analysis NONHSAT179794.1 lncRNA Cardiovascular disease 0.52 CACTCTCTTC(T > C)CCTCCCACCC chr19: 44911194 0.405,0.595 0.33394654689092762,0.66605345310907237 Region score:0.4; TSS score:0.49; Unmatched score:0.53; Average GERP:-0.639925742574257 GeneName:AC011481.3; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000280087; TranscriptID:ENST00000623895; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:APOC1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000130208; TranscriptID:ENST00000588750; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:APOE; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000130203; TranscriptID:ENST00000252486; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000110120; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000591179; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001024 19458352 NONHSAT197739.1 rs4679904 G N/A 505 european ancestry cases//1,507 european ancestry controls; 526 european ancestry cases//1,206 european ancestry controls EFO_0004267 N/A Associate Primary biliary cholangitis rs4679904-G of NONHSAT197739.1 is significantly associated with the primary biliary cholangitis by using GWAS analysis in 505 european ancestry cases//1,507 european ancestry controls; 526 european ancestry cases//1,206 european ancestry controls(p-value = 1E-6 ;OR = 1.38). 0.4 Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants. genome-wide association analysis NONHSAT197739.1 lncRNA Biliary liver cirrhosis 0.33 GAAGCATGTG(C > G,T)ATTCTTTTTA chr3: 160623108 0.8405,.,0.1595 0.79125254841997961,0.00003981906218144,0.20870763251783893 Region score:0.33; TSS score:0.05; Unmatched score:0.01; Average GERP:0.1031930693069307 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001025 25673412 NONHSAT168677.1 rs7144011 T N/A up to 56,910 european ancestry men//up to 86,570 european ancestry women; up to 36,570 european ancestry men//30,172 european ancestry women//915 filipino ancestry men//735 filipino ancestry women//2,351 african american/afro-caribbean ancestry men//6,258 african american/afro-caribbean ancestry women//2,285 south asian ancestry men//506 south asian ancestry women//195 seychellois ancestry men//266 seychellois ancestry women EFO_0005093 N/A Associate Hip circumference rs7144011-T of NONHSAT168677.1 is significantly associated with the hip circumference by using GWAS analysis in up to 56,910 european ancestry men//up to 86,570 european ancestry women; up to 36,570 european ancestry men//30,172 european ancestry women//915 filipino ancestry men//735 filipino ancestry women//2,351 african american/afro-caribbean ancestry men//6,258 african american/afro-caribbean ancestry women//2,285 south asian ancestry men//506 south asian ancestry women//195 seychellois ancestry men//266 seychellois ancestry women(p-value = 2E-11 ;OR = 0.0395). 0.4 New genetic loci link adipose and insulin biology to body fat distribution. genome-wide association analysis NONHSAT168677.1 lncRNA Hip circumference 0.33 TGTTTACTTT(G > T)ATTCCACACA chr14: 79474040 0.8504,0.1496 0.79851554536187563,0.20148445463812436 Region score:0.24; TSS score:0.18; Unmatched score:0.02; Average GERP:-0.5618712871287128 GeneName:NRXN3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000021645; TranscriptID:ENST00000635466; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001026 27885248 miR-205 rs3842530 type13/13 Recessive 286 patients, out of which 93 were benign, and 391 cases of breast tissues, out of which 197 were benign EFO_0001071 N/A decreasing risk lung carcinoma rs3842530-type13/13 of hsa-mir-205 and its dysfunction is significantly associated with the decreasing risk of Lung carcinoma by using analysis of sequence variation in 286 patients, out of which 93 were benign, and 391 cases of breast tissues, out of which 197 were benign 0.4 Rs3842530 Polymorphism in MicroRNA-205 Host Gene in Lung and Breast Cancer Patients. analysis of sequence variation hsa-mir-205 miRNA Lung carcinoma 0.33 GCCACCACCG(TAGCAGCAGCAGC > T)AGCAGCAGCA chr1: 209432291 0 0.45785550458715596,0.54214449541284403 - GeneName:MIR205; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000284485; TranscriptID:ENST00000384891; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR205HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000230937; TranscriptID:ENST00000366437; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000385104; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001027 29077507 NONHSAT078048.2 rs142002225 T N/A 677 african american women//544 african american men//115 asian women//113 asian men//1,825 european ancestry women//3,902 european ancestry men// 7,492 hispanic women//5,065 hispanic men EFO_0003918 N/A Associate Obstructive sleep apnea trait (apnea hypopnea index) rs142002225-T of NONHSAT078048.2 is significantly associated with the obstructive sleep apnea trait (apnea hypopnea index) by using GWAS analysis in 677 african american women//544 african american men//115 asian women//113 asian men//1,825 european ancestry women//3,902 european ancestry men// 7,492 hispanic women//5,065 hispanic men(p-value = 3E-7 ;OR = 0.108). 0.4 Multiethnic Meta-Analysis Identifies RAI1 as a Possible Obstructive Sleep Apnea-related Quantitative Trait Locus in Men. genome-wide association analysis NONHSAT078048.2 lncRNA Obstructive sleep apnea 0.33 TTCTTTACTA(T > C)TCCTTTGCAC chr20: 175501 0.8558,0.1442 0.84343144750254841,0.15656855249745158 Region score:0.16; TSS score:0.07; Unmatched score:0.04; Average GERP:0 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001028 28259691 HOTAIR rs4759314 A N/a 128 iranian prostate cancer patients and 250 normal male controls EFO_0001663 N/A No significance for risk Prostate cancer rs4759314-A of HOTAIR and its dysfunction is not significantly associated with Prostate cancer by using case-control analysis in 128 Iranian prostate cancer patients and 250 normal male controls. -0.4 HOTAIR genetic variants are associated with prostate cancer and benign prostate hyperplasia in an Iranian population. case-control analysis HOTAIR lncRNA Prostate cancer -0.33 AAACAGGCCA(G > A)GCGGATGCAA chr12: 53968051 0.09505,0.905 0.06856046126401630,0.93143953873598369 Region score:0.43; TSS score:0.68; Unmatched score:0.83; Average GERP:2.8445544554455457 GeneName:AC012531.4; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000274817; TranscriptID:ENST00000616509; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC012531.5; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277129; TranscriptID:ENST00000611375; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOTAIR; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000228630; TranscriptID:ENST00000424518; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000458643; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01905; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000275589; TranscriptID:ENST00000611210; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01906; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000277994; TranscriptID:ENST00000611352; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001029 27126917 NONHSAT154788.1 rs57941271 A N/A 941 european ancestry individuals EFO_0008568 N/A Associate Night sleep phenotypes rs57941271-A of NONHSAT154788.1 is significantly associated with the night sleep phenotypes by using GWAS analysis in 941 european ancestry individuals(p-value = 8E-7 ;OR = 0.07764). 0.4 Genome-wide association analysis of actigraphic sleep phenotypes in the LIFE Adult Study. genome-wide association analysis NONHSAT154788.1 lncRNA Sleep disorder 0.33 N/A N/A N/A N/A N/A N/A NCRV0000001030 28356144 miR-30d hsa-mir-30d Amplification - Dominant 136 cases of cervical squamous cell carcinoma tissues and matched adjacent normal ovarian epithelial tissues EFO_1000172 N/A Increasing risk Cervical squamous cell carcinoma Amplification of miR-30d and its dysfunction is significantly associated with the increasing risk of Cervical squamous cell carcinoma by using case-control analysis in 136 cases of cervical squamous cell carcinoma tissues and matched adjacent normal ovarian epithelial tissues. By using the disease cell lines or tissues, the interference of miR-30d has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. Moreover, the physiological function of miR-30d(mutation or interference expression) is documented by organism models in vivo such as xenograft or transgenic model etc. 1.5 Amplification and up-regulation of MIR30D was associated with disease progression of cervical squamous cell carcinomas. analysis of sequence variation; Function hsa-mir-30d miRNA Cervical squamous cell cancer 0.777 N/A N/A N/A N/A N/A N/A NCRV0000001031 27863252 NONHSAT221416.1 rs10901252 C N/A 173,039 european ancestry individuals EFO_0004348 N/A Associate Hematocrit rs10901252-C of NONHSAT221416.1 is significantly associated with the hematocrit by using GWAS analysis in 173,039 european ancestry individuals(p-value = 8E-15 ;OR = 0.0564596). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT221416.1 lncRNA Hematocrit 0.33 AGGGAGGGGC(G > C)GTTGCCCTCA chr9: 133252613 0.8448,0.1552 0.88808454383282364,0.11191545616717635 Region score:0.32; TSS score:0.37; Unmatched score:0.53; Average GERP:-0.07598019801980205 GeneName:ABO; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000175164; TranscriptID:ENST00000538324; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001032 27182965 NONHSAT187410.1 rs11694441 ? N/A 69,284 european ancestry individuals EFO_0007906 N/A Associate Monobrow rs11694441-? of NONHSAT187410.1 is significantly associated with the monobrow by using GWAS analysis in 69,284 european ancestry individuals(p-value = 8E-10 ;OR = 0.037). 0.4 Detection and interpretation of shared genetic influences on 42 human traits. genome-wide association analysis NONHSAT187410.1 lncRNA Synophrys measurement 0.33 CCCACCTAGG(C > A)TCAATCTGCC chr2: 118783805 0.9643,0.03574 0.92228115443425076,0.07771884556574923 Region score:0.29; TSS score:0.26; Unmatched score:0.12; Average GERP:-0.6030581188118811 GeneName:LINC01956; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000258910; TranscriptID:ENST00000557729; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001033 27322543 NONHSAT161676.1 rs561561 ? N/A 59,674 european ancestry cases//316,078 european ancestry controls EFO_0003821 N/A Associate Migraine rs561561-? of NONHSAT161676.1 is significantly associated with the migraine by using GWAS analysis in 59,674 european ancestry cases//316,078 european ancestry controls(p-value = 3E-8 ;OR = 1.0638298). 0.4 Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine. genome-wide association analysis NONHSAT161676.1 lncRNA Migraine disorder 0.33 CTTTTTGGAA(A > T)TACAAAACAA chr11: 133959811 0.9173,0.08267 0.90288130733944954,0.09711869266055045 Region score:0.35; TSS score:0.52; Unmatched score:0.45; Average GERP:-0.731970099009901 GeneName:IGSF9B; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000080854; TranscriptID:ENST00000533871; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001034 23555923 hsa-mir-196a2 rs11614913 C N/a 191 patients with tnbc and 192 healthy female controls EFO_0005537 N/A No significance for risk Triple-negative breast cancer rs11614913-C of hsa-mir-196a2 and its dysfunction is not significantly associated with Triple-negative breast cancer by using case-control analysis in 191 patients with TNBC and 192 healthy female controls. -0.4 There is no association between microRNA gene polymorphisms and risk of triple negative breast cancer in a Chinese Han population. case-control analysis hsa-mir-196a-2 miRNA Triple-negative breast cancer -0.33 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001035 28604730 NONHSAT176539.1 rs17181550 T N/A 29,266 european ancestry cases//56,450 european ancestry controls EFO_0001071 N/A Associate Lung cancer rs17181550-T of NONHSAT176539.1 is significantly associated with the lung cancer by using GWAS analysis in 29,266 european ancestry cases//56,450 european ancestry controls(p-value = 2E-7 ;OR = 1.0639783). 0.4 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. genome-wide association analysis NONHSAT176539.1 lncRNA Lung cancer 0.33 AATCGGACCA(T > G)AATACCATGA chr17: 72303817 0.604,0.396 0.61672559887869520,0.38327440112130479 Region score:0.27; TSS score:0.23; Unmatched score:0.07; Average GERP:-0.910228712871287 GeneName:LINC00511; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000227036; TranscriptID:ENST00000648631; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001036 26184070 NONHSAT127684.2 rs4500123 ? N/A 750 european ancestry child and adolescent cases EFO_0003888 N/A Associate Oppositional defiant disorder dimensions in attention-deficit hyperactivity disorder rs4500123-? of NONHSAT127684.2 is significantly associated with the oppositional defiant disorder dimensions in attention-deficit hyperactivity disorder by using GWAS analysis in 750 european ancestry child and adolescent cases(p-value = 6E-6 ;OR = ?). 0.4 Gene-set and multivariate genome-wide association analysis of oppositional defiant behavior subtypes in attention-deficit/hyperactivity disorder. genome-wide association analysis NONHSAT127684.2 lncRNA Attention deficit hyperactivity disorder 0.33 TCATTTAAAA(A > G)AAATAACACC chr8: 91957925 0.8644,0.1356 0.86359582059123343,0.13640417940876656 Region score:0.46; TSS score:0.85; Unmatched score:0.74; Average GERP:1.9252940594059407 GeneName:RUNX1T1; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000079102; TranscriptID:ENST00000436581; AnnoType:3PRIME_UTR; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001037 22952603 NONHSAT130451.2 rs12554707 ? N/A 1 american indian ancestry individual//18 african american individuals//10 asian ancestry individuals//325 european ancestry individuals//17 hispanic individuals//10 individuals GO_0042493 N/A Associate Response to amphetamines rs12554707-? of NONHSAT130451.2 is significantly associated with the response to amphetamines by using GWAS analysis in 1 american indian ancestry individual//18 african american individuals//10 asian ancestry individuals//325 european ancestry individuals//17 hispanic individuals//10 individuals(p-value = 2E-6 ;OR = ?). 0.4 Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13). genome-wide association analysis NONHSAT130451.2 lncRNA Response to drug 0.33 AATCGTTTTT(G > A)AGAACTAAAA chr9: 22842203 0.9387,0.0613 0.93305619266055045,0.06694380733944954 Region score:0.31; TSS score:0.06; Unmatched score:0; Average GERP:0.09428712871287122 GeneName:AL391117.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000284418; TranscriptID:ENST00000640003; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001038 27225129 NONHSAT210292.1 rs6939294 T N/A 405,072 european ancestry individuals EFO_0004784 N/A Associate Educational attainment (years of education) rs6939294-T of NONHSAT210292.1 is significantly associated with the educational attainment (years of education) by using GWAS analysis in 405,072 european ancestry individuals(p-value = 3E-9 ;OR = 0.015577532). 0.4 Genome-wide association study identifies 74 loci associated with educational attainment. genome-wide association analysis NONHSAT210292.1 lncRNA Self reported educational attainment 0.33 GATCCATCCT(C > T)TCAGTAAGGA chr6: 16950400 0.7993,0.2007 0.79960658766564729,0.20039341233435270 Region score:0.33; TSS score:0.33; Unmatched score:0.2; Average GERP:-1.1266041653465344 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001039 19851984 miR-30a rs1358379 G N/A 143 OPL patients and 136 matched controls EFO_0006566 N/A no significance for risk oral premalignant lesions rs1358379-G of hsa-mir-30a and its dysfunction is not significantly associated with Dysplastic oral keratinocyte by using case-control analysis in 143 OPL patients and 136 matched controls -0.4 Genetic variation in MicroRNA genes and risk of oral premalignant lesions. case-control analysis hsa-mir-30a miRNA Dysplastic oral keratinocyte -0.33 TGAAGCCTCA(T > C)TCAAACAGCA chr6: 71403739 0.9529,0.04712 0.94004841997961264,0.05995158002038735 Region score:0.28; TSS score:0.34; Unmatched score:0.65; Average GERP:-0.013287128712871283 GeneName:AL136164.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000269966; TranscriptID:ENST00000602823; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LINC00472; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000233237; TranscriptID:ENST00000413945; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR30A; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207827; TranscriptID:ENST00000385092; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000795304; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001040 26390057 NONHSAT176422.1 rs2240736 T N/A 31,516 east asian ancestry individuals// 35,352 european ancestry individuals//33,126 south asian ancestry individuals; 87,205 individuals//48,268 east asian ancestry individuals//68,456 european ancestry individuals and 16,328 south asian ancestry individuals EFO_0006340 N/A Associate Mean arterial pressure rs2240736-T of NONHSAT176422.1 is significantly associated with the mean arterial pressure by using GWAS analysis in 31,516 east asian ancestry individuals// 35,352 european ancestry individuals//33,126 south asian ancestry individuals; 87,205 individuals//48,268 east asian ancestry individuals//68,456 european ancestry individuals and 16,328 south asian ancestry individuals(p-value = 2E-16 ;OR = 0.34944525). 0.4 Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation. genome-wide association analysis NONHSAT176422.1 lncRNA Mean arterial pressure 0.33 GTCTAACCCT(C > T)GTCTTGTTCT chr17: 61408032 0.4315,0.5685 0.33885225535168195,0.66114774464831804 Region score:0.38; TSS score:0.34; Unmatched score:0.71; Average GERP:1.4797257425742576 GeneName:C17orf82; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000187013; TranscriptID:ENST00000623772; AnnoType:UPSTREAM; mirSVR-Score:-0.1371; mirSVR-E:-18.09 | GeneName:TBX2-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000267280; TranscriptID:ENST00000592009; AnnoType:INTRONIC; mirSVR-Score:-0.1371; mirSVR-E:-18.09 | GeneName:TBX2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000121068; TranscriptID:ENST00000240328; AnnoType:INTRONIC; mirSVR-Score:-0.1371; mirSVR-E:-18.09 | NCRV0000001041 24478790 NONHSAT125368.2 rs11787341 A N/A 4,829 european ancestry individuals from 586 families with exceptional longevity EFO_0004505 N/A Associate Telomere length rs11787341-A of NONHSAT125368.2 is significantly associated with the telomere length by using GWAS analysis in 4,829 european ancestry individuals from 586 families with exceptional longevity(p-value = 9E-7 ;OR = ?). 0.4 Genome wide association and linkage analyses identified three loci-4q25, 17q23.2, and 10q11.21-associated with variation in leukocyte telomere length: the Long Life Family Study. genome-wide association analysis NONHSAT125368.2 lncRNA Telomere length 0.33 TAAGCAATCC(G > A)GAGTCAGCTT chr8: 19245054 0.9044,0.09565 0.92930523700305810,0.07069476299694189 Region score:0.23; TSS score:0.33; Unmatched score:0.53; Average GERP:-0.7363960396039602 GeneName:AC068880.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250316; TranscriptID:ENST00000507289; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC068880.3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000254201; TranscriptID:ENST00000519185; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC100849.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000253557; TranscriptID:ENST00000517949; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000849049; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000849050; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001042 28159929 PRNCR1 rs1456315 G Dominant Several case-control studies EFO_0000311 N/A Decreasing risk Cancer rs1456315-G of PRNCR1 and its dysfunction is significantly associated with the decreasing risk of cancer by using meta-analysis in several case-control studies. 0.4 The HOTAIR, PRNCR1 and POLR2E polymorphisms are associated with cancer risk: a meta-analysis. meta-analysis PRNCR1 lncRNA Cancer 0.33 AATAAATCTA(T > A,C)ACAACTTATA chr8: 127091692 0.4968,.,0.5032 0.42850089194699286,0.00047782874617737,0.57102127930682976 Region score:0.27; TSS score:0.22; Unmatched score:0.07; Average GERP:0.33674950495049494 GeneName:AC020688.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000224722; TranscriptID:ENST00000519282; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CASC19; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000254166; TranscriptID:ENST00000642100; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PCAT1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000253438; TranscriptID:ENST00000646670; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PRNCR1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000282961; TranscriptID:ENST00000635449; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001043 28416818 NONHSAT198931.1 rs6843082 G N/A 7,323 european ancestry cases//102,776 european ancestry controls.; EFO_0000275 N/A Associate Atrial fibrillation rs6843082-G of NONHSAT198931.1 is significantly associated with the atrial fibrillation by using GWAS analysis in 7,323 european ancestry cases//102,776 european ancestry controls.; (p-value = 3E-155 ;OR = 1.45). 0.4 Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation. genome-wide association analysis NONHSAT198931.1 lncRNA Atrial fibrillation 0.52 CATAACAGCC(G > A)TTTCAGCTCT chr4: 110796911 0.4,0.6 0.30569094036697247,0.69430905963302752 Region score:0.58; TSS score:0.62; Unmatched score:0.69; Average GERP:2.7066079207920812 GeneName:LINC01438; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000249519; TranscriptID:ENST00000512794; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001043 20173747 NONHSAT198931.1 rs6843082 G N/A 1,335 european ancestry cases//12,844 european ancestry controls; 1,164 european ancestry cases//3,607 european ancestry controls EFO_0000275 N/A Associate Atrial fibrillation rs6843082-G of NONHSAT198931.1 is significantly associated with the atrial fibrillation by using GWAS analysis in 1,335 european ancestry cases//12,844 european ancestry controls; 1,164 european ancestry cases//3,607 european ancestry controls(p-value = 3E-28 ;OR = 2.03). 0.4 Common variants in KCNN3 are associated with lone atrial fibrillation. genome-wide association analysis NONHSAT198931.1 lncRNA Atrial fibrillation 0.52 CATAACAGCC(G > A)TTTCAGCTCT chr4: 110796911 0.4,0.6 0.30569094036697247,0.69430905963302752 Region score:0.58; TSS score:0.62; Unmatched score:0.69; Average GERP:2.7066079207920812 GeneName:LINC01438; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000249519; TranscriptID:ENST00000512794; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001043 28416822 NONHSAT198931.1 rs6843082 G N/A 8,180 japanese ancestry cases//28,612 japanese ancestry controls; 3,120 japanese ancestry cases//125,064 japanese ancestry controls//15,993 european ancestry cases//113,719 european ancestry controls EFO_0000275 N/A Associate Atrial fibrillation rs6843082-G of NONHSAT198931.1 is significantly associated with the atrial fibrillation by using GWAS analysis in 8,180 japanese ancestry cases//28,612 japanese ancestry controls; 3,120 japanese ancestry cases//125,064 japanese ancestry controls//15,993 european ancestry cases//113,719 european ancestry controls(p-value = 1E-126 ;OR = 1.842). 0.4 Identification of six new genetic loci associated with atrial fibrillation in the Japanese population. genome-wide association analysis NONHSAT198931.1 lncRNA Atrial fibrillation 0.52 CATAACAGCC(G > A)TTTCAGCTCT chr4: 110796911 0.4,0.6 0.30569094036697247,0.69430905963302752 Region score:0.58; TSS score:0.62; Unmatched score:0.69; Average GERP:2.7066079207920812 GeneName:LINC01438; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000249519; TranscriptID:ENST00000512794; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001044 24204295 NONHSAT210400.1 rs9270965 ? N/A up to 893 chinese ancestry cases with onset before the 2009 h1n1 influenza pandemic//up to 373 chinese ancestry cases with onset after the 2009 h1n1 influenza pandemic EFO_0000614 N/A Associate Narcolepsy (onset before 2009 h1n1 influenza pandemic) rs9270965-? of NONHSAT210400.1 is significantly associated with the narcolepsy (onset before 2009 h1n1 influenza pandemic) by using GWAS analysis in up to 893 chinese ancestry cases with onset before the 2009 h1n1 influenza pandemic//up to 373 chinese ancestry cases with onset after the 2009 h1n1 influenza pandemic(p-value = 5E-12 ;OR = 1.72). 0.4 Genome wide analysis of narcolepsy in China implicates novel immune loci and reveals changes in association prior to versus after the 2009 H1N1 influenza pandemic. genome-wide association analysis NONHSAT210400.1 lncRNA Narcolepsy with cataplexy 0.33 AATCATTACA(A > G)TGCCAACATC chr6: 32605694 0.3069,0.6931 0.30107989296636085,0.69892010703363914 Region score:0.26; TSS score:0.29; Unmatched score:0.1; Average GERP:-0.48869613861386146 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001045 27863252 NONHSAT197521.1 rs4328821 G N/A 171,542 european ancestry individuals EFO_0007990 N/A Associate Neutrophil percentage of white cells rs4328821-G of NONHSAT197521.1 is significantly associated with the neutrophil percentage of white cells by using GWAS analysis in 171,542 european ancestry individuals(p-value = 5E-50 ;OR = 0.08527041). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT197521.1 lncRNA Neutrophil percentage of leukocytes 0.33 CGTGCACCCA(A > G)TTTTAGAGAT chr3: 128597592 0.8073,0.1927 0.85647617227319062,0.14352382772680937 Region score:0.21; TSS score:0.16; Unmatched score:0.03; Average GERP:0.03414851485148518 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001046 20881960 NONHSAT022168.2 rs3782089 T N/A 133,653 european ancestry individuals; 50,074 european ancestry individuals EFO_0004339 N/A Associate Height rs3782089-T of NONHSAT022168.2 is significantly associated with the height by using GWAS analysis in 133,653 european ancestry individuals; 50,074 european ancestry individuals(p-value = 4E-13 ;OR = 0.058). 0.4 Hundreds of variants clustered in genomic loci and biological pathways affect human height. genome-wide association analysis NONHSAT022168.2 lncRNA Body height 0.33 GGGCTCTCCA(C > T)GTAAGCAGGA chr11: 65569348 0.9305,0.06949 0.94573458205912334,0.05426541794087665 Region score:0.3; TSS score:0.43; Unmatched score:0.86; Average GERP:-0.024143564356435603 GeneName:FAM89B; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000176973; TranscriptID:ENST00000530349; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000264463; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SSSCA1-AS1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000260233; TranscriptID:ENST00000623234; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SSSCA1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000173465; TranscriptID:ENST00000309328; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001047 27225188 PAX8-AS1 rs4848320 T Recessive 1486 cervical cancer patients and 1536 cancer-free controls EFO_0001061 N/A decreasing risk cervical carcinoma rs4848320-T of PAX8-AS1 and its dysfunction is significantly associated with the decreasing risk of Cervical carcinoma by using case-control analysis in 1486 cervical cancer patients and 1536 cancer-free controls 0.4 Expression quantitative trait loci in long non-coding RNA PAX8-AS1 are associated with decreased risk of cervical cancer. case-control analysis PAX8-AS1 lncRNA Cervical carcinoma 0.33 TGTTTTCTCC(C > G,T)TTCAGGCTTC chr2: 113253214 0.7933,.,0.2067 0.79897744648318042,0.00001592762487257,0.20100662589194699 Region score:0.27; TSS score:0.18; Unmatched score:0.23; Average GERP:-1.3327920792079204 GeneName:PAX8-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000189223; TranscriptID:ENST00000422956; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PAX8; CADD-Score:2; Consquence:intron; GeneID:ENSG00000125618; TranscriptID:ENST00000263334; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001048 26152337 hsa-mir-1255a rs28664200 T N/A 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A no significance for risk hepatocellular carcinoma rs28664200-T of hsa-mir-1255a and its dysfunction is not significantly associated with Hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors -0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. case-control analysis hsa-mir-1255a miRNA Hepatocellular carcinoma -0.33 GCAAAGAAGA(T > C)AGTTTCTTTA chr4: 101330344 0.6318,0.3682 0.70859613914373088,0.29140386085626911 Region score:0.23; TSS score:0.06; Unmatched score:0.21; Average GERP:-0.08101980198019809 GeneName:MIR1255A; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000221265; TranscriptID:ENST00000408338; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PPP3CA; CADD-Score:2; Consquence:intron; GeneID:ENSG00000138814; TranscriptID:ENST00000394854; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001049 20834067 NONHSAT193352.1 rs9616906 ? N/A 1,173 individuals EFO_0004300 N/A Associate Longevity rs9616906-? of NONHSAT193352.1 is significantly associated with the longevity by using GWAS analysis in 1,173 individuals(p-value = 1E-6 ;OR = ?). 0.4 Joint influence of small-effect genetic variants on human longevity. genome-wide association analysis NONHSAT193352.1 lncRNA Longevity 0.33 GATGTAAGGT(G > A,C)CGTTCAGGAT chr22: 50666252 0.731,0.269,. 0.63660327471967380,0.36338876146788990,0.00000796381243628 Region score:0.38; TSS score:0.32; Unmatched score:0.18; Average GERP:-0.02868316831683169 GeneName:RF00019; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000212569; TranscriptID:ENST00000391267; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001050 25187353 NONHSAT148900.1 rs11211480 G N/A 161 european ancestry cases//1,196 european ancestry clozapine-treated and untreated controls HP_0012235 N/A Associate Clozapine-induced agranulocytosis rs11211480-G of NONHSAT148900.1 is significantly associated with the clozapine-induced agranulocytosis by using GWAS analysis in 161 european ancestry cases//1,196 european ancestry clozapine-treated and untreated controls(p-value = 2E-6 ;OR = 1.9278966). 0.4 Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles. genome-wide association analysis NONHSAT148900.1 lncRNA Drug-induced agranulocytosis 0.33 TTGCCACTAG(A > G)CACCCAGGAT chr1: 47227548 0.7192,0.2808 0.61120667686034658,0.38879332313965341 Region score:0.2; TSS score:0.57; Unmatched score:0.71; Average GERP:-0.7682050495049506 GeneName:AL135960.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000226252; TranscriptID:ENST00000422216; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TAL1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000162367; TranscriptID:ENST00000294339; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001051 24292274 NONHSAT129017.2 rs2466024 A N/A 1,739 european ancestry cases//5,199 european ancestry controls; 1,144 european ancestry cases//3,151 european ancestry controls EFO_0000095 N/A Associate Chronic lymphocytic leukemia rs2466024-A of NONHSAT129017.2 is significantly associated with the chronic lymphocytic leukemia by using GWAS analysis in 1,739 european ancestry cases//5,199 european ancestry controls; 1,144 european ancestry cases//3,151 european ancestry controls(p-value = 3E-6 ;OR = 1.21). 0.4 A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia. genome-wide association analysis NONHSAT129017.2 lncRNA Chronic lymphocytic leukemia 0.33 GTTTTCAAGT(G > A)AAGCTTGAAC chr8: 127175774 0.5124,0.4876 0.52361270387359836,0.47638729612640163 Region score:0.2; TSS score:0.19; Unmatched score:0.08; Average GERP:-0.5934178217821781 GeneName:CASC19; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000254166; TranscriptID:ENST00000641365; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000869272; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000869273; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PCAT1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000253438; TranscriptID:ENST00000646670; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001052 27863252 NONHSAT076891.2 rs55799208 A N/A 171,748 european ancestry individuals EFO_0007993 N/A Associate Lymphocyte percentage of white cells rs55799208-A of NONHSAT076891.2 is significantly associated with the lymphocyte percentage of white cells by using GWAS analysis in 171,748 european ancestry individuals(p-value = 3E-20 ;OR = 0.3287534). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT076891.2 lncRNA Lymphocyte percentage of leukocytes 0.33 CATGCCACAC(G > A)CACACTGACC chr2: 218135259 0.9992,0.0007987 0.99875764525993883,0.00124235474006116 Region score:0.3; TSS score:0.45; Unmatched score:0.56; Average GERP:2.868386138613863 GeneName:CXCR2; CADD-Score:7; Consquence:missense; GeneID:ENSG00000180871; TranscriptID:ENST00000318507; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001053 21037568 NONHSAT011305.2 rs501764 C N/A 589 european ancestry cases//5,199 european ancestry controls; 2,057 european ancestry cases//3,416 european ancestry controls EFO_0000183 N/A Associate Hodgkin's lymphoma rs501764-C of NONHSAT011305.2 is significantly associated with the hodgkin's lymphoma by using GWAS analysis in 589 european ancestry cases//5,199 european ancestry controls; 2,057 european ancestry cases//3,416 european ancestry controls(p-value = 7E-8 ;OR = 1.25). 0.4 A genome-wide association study of Hodgkin's lymphoma identifies new susceptibility loci at 2p16.1 (REL), 8q24.21 and 10p14 (GATA3). genome-wide association analysis NONHSAT011305.2 lncRNA Hodgkins lymphoma 0.451 CCGCGCCTCC(G > T)CTCTGCGCCA chr10: 8051071 0.07847,0.9215 0.13445304536187563,0.86554695463812436 Region score:0.36; TSS score:0.6; Unmatched score:0.96; Average GERP:-0.6790593069306928 GeneName:AL390294.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000232638; TranscriptID:ENST00000418270; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GATA3-AS1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000197308; TranscriptID:ENST00000355358; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GATA3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000107485; TranscriptID:ENST00000379328; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000395320; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001053 24149102 NONHSAT011305.2 rs501764 C N/A 1,465 european ancestry cases//6,417 european ancestry controls; 1,071 european ancestry cases//953 cases//1,853 controls EFO_0000183 N/A Associate Hodgkin's lymphoma rs501764-C of NONHSAT011305.2 is significantly associated with the hodgkin's lymphoma by using GWAS analysis in 1,465 european ancestry cases//6,417 european ancestry controls; 1,071 european ancestry cases//953 cases//1,853 controls(p-value = 4E-10 ;OR = 1.39). 0.4 Variation at 3p24.1 and 6q23.3 influences the risk of Hodgkin's lymphoma. genome-wide association analysis NONHSAT011305.2 lncRNA Hodgkins lymphoma 0.451 CCGCGCCTCC(G > T)CTCTGCGCCA chr10: 8051071 0.07847,0.9215 0.13445304536187563,0.86554695463812436 Region score:0.36; TSS score:0.6; Unmatched score:0.96; Average GERP:-0.6790593069306928 GeneName:AL390294.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000232638; TranscriptID:ENST00000418270; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GATA3-AS1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000197308; TranscriptID:ENST00000355358; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GATA3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000107485; TranscriptID:ENST00000379328; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000395320; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001054 22850735 MIR137 rs1625579 T N/a Individuals at high genetic risk of bd (n=90), and healthy controls (n=81) EFO_0000289 N/A Increasing risk Bipolar disorder rs1625579-T of MIR137 and its dysfunction is significantly associated with the increasing risk of bipolar disorder by using case-control analysis in individuals at high genetic risk of BD (n=90), and healthy controls (n=81). By using the disease cell lines or tissues, the mutation of MIR137 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 Impact of a microRNA MIR137 susceptibility variant on brain function in people at high genetic risk of schizophrenia or bipolar disorder. case-control analysis; Function hsa-mir-137 miRNA Bipolar disorder 0.393 CTGAGTTGAT(G > T)TAATTGTGAT chr1: 98037378 0.2031,0.7969 0.20921731651376146,0.79078268348623853 Region score:0.29; TSS score:0.13; Unmatched score:0.07; Average GERP:0.06902574257425746 GeneName:MIR137HG; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000225206; TranscriptID:ENST00000634594; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001054 24888363 MIR137 rs1625579 T N/A 345 BD patients, 426 SZ patients and 1376 healthy individuals, all unrelated, in V?sterbotten region of Northern Sweden EFO_0000289 N/A no significance for risk bipolar disorder rs1625579-T of hsa-mir-137 and its dysfunction is not significantly associated with Bipolar disorder by using case-control analysis in 345 BD patients, 426 SZ patients and 1376 healthy individuals, all unrelated, in V?sterbotten region of Northern Sweden -0.4 MIR137 variants identified in psychiatric patients affect synaptogenesis and neuronal transmission gene sets. case-control analysis hsa-mir-137 miRNA Bipolar disorder 0.393 CTGAGTTGAT(G > T)TAATTGTGAT chr1: 98037378 0.2031,0.7969 0.20921731651376146,0.79078268348623853 Region score:0.29; TSS score:0.13; Unmatched score:0.07; Average GERP:0.06902574257425746 GeneName:MIR137HG; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000225206; TranscriptID:ENST00000634594; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001055 27989323 NONHSAT168677.1 rs74811276 G N/A 3,364 finnish ancestry individuals EFO_0005140 N/A Associate Interleukin-5 levels rs74811276-G of NONHSAT168677.1 is significantly associated with the interleukin-5 levels by using GWAS analysis in 3,364 finnish ancestry individuals(p-value = 6E-6 ;OR = 0.2152). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. genome-wide association analysis NONHSAT168677.1 lncRNA Autoimmune disease 0.33 CAGATTGGAA(G > A)AATGATATTT chr14: 79363724 0.9814,0.01857 0.95797496177370030,0.04202503822629969 Region score:0.48; TSS score:0.41; Unmatched score:0.17; Average GERP:2.6985514851485153 GeneName:NRXN3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000021645; TranscriptID:ENST00000635466; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001056 20237425 miR-128b chr3:35785980 G Dominant MLL-AF4 acute lymphocytic leukemia EFO_0000220 N/A increasing risk acute lymphoblastic leukemia chr3:35785980-G of hsa-mir-128-2 and its dysfunction is significantly associated with the increasing risk of Acute lymphoblastic leukemia by using analysis of sequence variation in MLL-AF4 acute lymphocytic leukemia 0.4 A novel mutation in the miR-128b gene reduces miRNA processing and leads to glucocorticoid resistance of MLL-AF4 acute lymphocytic leukemia cells. analysis of sequence variation hsa-mir-128-2 miRNA Acute lymphoblastic leukemia 0.33 - - - - - - NCRV0000001057 27989323 NONHSAT073683.2 rs149731228 AAAAG N/A 3,685 finnish ancestry individuals EFO_0005140 N/A Associate Monokine induced by gamma interferon levels rs149731228-AAAAG of NONHSAT073683.2 is significantly associated with the monokine induced by gamma interferon levels by using GWAS analysis in 3,685 finnish ancestry individuals(p-value = 3E-6 ;OR = 0.2152). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. genome-wide association analysis NONHSAT073683.2 lncRNA Autoimmune disease 0.33 GGGAAATCAG(AAAAG > A)AAAGAAAGAA chr2: 112126773 0.888,0.112 0.88664309378185524,0.11335690621814475 N/A GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001058 28240269 NONHSAT196733.1 rs17366568 ? N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0004502 N/A Associate Blood protein levels rs17366568-? of NONHSAT196733.1 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 6E-7 ;OR = 0.2953). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. genome-wide association analysis NONHSAT196733.1 lncRNA Adiponectin measurement 0.33 GGTTAGCATT(G > A)AATGGAGCAA chr3: 186852664 0.9349,0.0651 0.91760639653414882,0.08239360346585117 Region score:0.37; TSS score:0.34; Unmatched score:0.47; Average GERP:-0.7121405940594059 GeneName:ADIPOQ-AS1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000226482; TranscriptID:ENST00000422718; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ADIPOQ; CADD-Score:2; Consquence:intron; GeneID:ENSG00000181092; TranscriptID:ENST00000444204; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001059 27082954 NONHSAT218718.1 rs1684978 ? N/A 104 european ancestry cases//1,519 european ancestry controls//34 african american cases//520 african american controls EFO_0004265 traffic-related air pollution interaction Associate Peripheral arterial disease (traffic-related air pollution interaction) rs1684978-? of NONHSAT218718.1 is significantly associated with the peripheral arterial disease (traffic-related air pollution interaction) by using GWAS analysis in 104 european ancestry cases//1,519 european ancestry controls//34 african american cases//520 african american controls(p-value = 6E-6 ;OR = 3.91). 0.4 Genetic Variants in the Bone Morphogenic Protein Gene Family Modify the Association between Residential Exposure to Traffic and Peripheral Arterial Disease. genome-wide association analysis NONHSAT218718.1 lncRNA Peripheral arterial disease 0.33 ATAGAAGGAG(G > A)TCTGACATTG chr8: 114997677 0.886,0.114 0.88170553007135575,0.11829446992864424 Region score:0.35; TSS score:0.17; Unmatched score:0.05; Average GERP:-0.26659435643564355 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001060 28448500 NONHSAT210400.1 rs615672 G N/A 2,518 african american women//85,730 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//54,792 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men EFO_0007789 joint analysis main effects and physical activity interaction Associate Waist circumference adjusted for bmi in active individuals rs615672-G of NONHSAT210400.1 is significantly associated with the waist circumference adjusted for bmi in active individuals by using GWAS analysis in 2,518 african american women//85,730 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//54,792 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men(p-value = 1E-6 ;OR = 0.0235). 0.4 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. genome-wide association analysis NONHSAT210400.1 lncRNA Bmi-adjusted waist circumference 0.451 GTTAGGAAAA(G > A,C)AGAAATAAGA chr6: 32606394 0.5333,.,0.4667 0.57443775484199796,0.00007167431192660,0.42549057084607543 Region score:0.23; TSS score:0.3; Unmatched score:0.17; Average GERP:-0.446445544554455 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001060 28448500 NONHSAT210400.1 rs615672 ? N/A 2,518 african american women//85,730 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//54,792 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men EFO_0007789 joint analysis main effects and physical activity interaction Associate Waist circumference adjusted for bmi (joint analysis main effects and physical activity interaction) rs615672-? of NONHSAT210400.1 is significantly associated with the waist circumference adjusted for bmi (joint analysis main effects and physical activity interaction) by using GWAS analysis in 2,518 african american women//85,730 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//54,792 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men(p-value = 1E-7 ;OR = ?). 0.4 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. genome-wide association analysis NONHSAT210400.1 lncRNA Bmi-adjusted waist circumference 0.451 GTTAGGAAAA(G > A,C)AGAAATAAGA chr6: 32606394 0.5333,.,0.4667 0.57443775484199796,0.00007167431192660,0.42549057084607543 Region score:0.23; TSS score:0.3; Unmatched score:0.17; Average GERP:-0.446445544554455 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001061 25866641 NONHSAT170655.1 rs10152207 ? N/A 171 european ancestry cases EFO_1000657 N/A Associate Survival in rectal cancer rs10152207-? of NONHSAT170655.1 is significantly associated with the survival in rectal cancer by using GWAS analysis in 171 european ancestry cases(p-value = 5E-6 ;OR = 3.06). 0.4 A genome wide association study on Newfoundland colorectal cancer patients' survival outcomes. genome-wide association analysis NONHSAT170655.1 lncRNA Rectum cancer 0.33 GCTACTCCCC(G > A)TTTTGTGTTT chr15: 37837578 0.9089,0.09105 0.89406536697247706,0.10593463302752293 Region score:0.41; TSS score:0.22; Unmatched score:0.05; Average GERP:0.4890703465346531 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000075078; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001062 27863252 NONHSAT164108.1 rs34734847 C N/A 172,433 european ancestry individuals EFO_0004526 N/A Associate Mean corpuscular volume rs34734847-C of NONHSAT164108.1 is significantly associated with the mean corpuscular volume by using GWAS analysis in 172,433 european ancestry individuals(p-value = 6E-45 ;OR = 0.05085544). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT164108.1 lncRNA Mean corpuscular volume 0.33 ATCTGTAAAA(T > C)AGAGACAGTA chr12: 120716418 0.6565,0.3435 0.63819603720693170,0.36180396279306829 Region score:0.35; TSS score:0.25; Unmatched score:0.22; Average GERP:-0.5832386138613865 GeneName:UNC119B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000175970; TranscriptID:ENST00000344651; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001063 27863252 NONHSAT219044.1 rs73381355 T N/A 172,433 european ancestry individuals EFO_0004526 N/A Associate Mean corpuscular volume rs73381355-T of NONHSAT219044.1 is significantly associated with the mean corpuscular volume by using GWAS analysis in 172,433 european ancestry individuals(p-value = 1E-10 ;OR = 0.04282849). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT219044.1 lncRNA Mean corpuscular volume 0.33 GTCCAGAGAA(G > T)GAAGTCAAAG chr8: 144126114 0.9121,0.08786 0.89193902905198776,0.10806097094801223 Region score:0.39; TSS score:0.48; Unmatched score:0.29; Average GERP:-0.21253298969072168 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000333988; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001064 28090653 NONHSAT184241.1 rs149940960 T N/A up to 488 european ancestry cases//up to 111 african american cases//up to 60 hispanic cases//up to 56 other ancestry cases EFO_0000220 N/A Associate Alanine aminotransferase (alt) levels after remission induction therapy in actute lymphoblastic leukemia (all) rs149940960-T of NONHSAT184241.1 is significantly associated with the alanine aminotransferase (alt) levels after remission induction therapy in actute lymphoblastic leukemia (all) by using GWAS analysis in up to 488 european ancestry cases//up to 111 african american cases//up to 60 hispanic cases//up to 56 other ancestry cases(p-value = 2E-8 ;OR = 6.666666). 0.4 Genome-Wide Study Links PNPLA3 Variant With Elevated Hepatic Transaminase After Acute Lymphoblastic Leukemia Therapy. genome-wide association analysis NONHSAT184241.1 lncRNA Acute lymphoblastic leukemia 0.33 TGTTTTGTTT(T > C)GTTTTGTTTT chr2: 11641492 0.9886,0.01138 0.99021247451580020,0.00978752548419979 Region score:0.3; TSS score:0.61; Unmatched score:0.6; Average GERP:-0.2336935483870967 GeneName:GREB1; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000196208; TranscriptID:ENST00000381486; AnnoType:3PRIME_UTR; mirSVR-Score:-0.6795; mirSVR-E:-10.39 | NCRV0000001065 21448238 NONHSAT192703.1 rs140174 G N/A 2,116 european ancestry cases//7,318 european ancestry controls//330 dutch founder cases//1,216 dutch founder controls; 2,957 european ancestry cases//5,774 european ancestry controls EFO_0003821 N/A Associate Migraine rs140174-G of NONHSAT192703.1 is significantly associated with the migraine by using GWAS analysis in 2,116 european ancestry cases//7,318 european ancestry controls//330 dutch founder cases//1,216 dutch founder controls; 2,957 european ancestry cases//5,774 european ancestry controls(p-value = 8E-6 ;OR = 1.08). 0.4 Meta-analysis of genome-wide association for migraine in six population-based European cohorts. genome-wide association analysis NONHSAT192703.1 lncRNA Migraine disorder 0.33 AACCGGTCCT(A > G)GAGGGAGGTG chr22: 23580796 0.3816,0.6184 0.51752038735983690,0.48247961264016309 Region score:0.4; TSS score:0.46; Unmatched score:0.72; Average GERP:0.04715712871287132 GeneName:AP000345.2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000272733; TranscriptID:ENST00000608615; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:IGLL1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000128322; TranscriptID:ENST00000330377; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001066 27863252 NONHSAT053659.2 rs11079018 G N/A 170,761 european ancestry individuals EFO_0007986 N/A Associate High light scatter reticulocyte count rs11079018-G of NONHSAT053659.2 is significantly associated with the high light scatter reticulocyte count by using GWAS analysis in 170,761 european ancestry individuals(p-value = 3E-19 ;OR = 0.05845597). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT053659.2 lncRNA Reticulocyte count 0.33 TTAGAATTAC(A > G)AAGCAGAAAA chr17: 41849398 0.07648,0.9235 0.09398095056065239,0.90601904943934760 Region score:0.36; TSS score:0.42; Unmatched score:0.62; Average GERP:1.5131107920792073 GeneName:AC125257.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000259623; TranscriptID:ENST00000560400; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:KLHL10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000161594; TranscriptID:ENST00000293303; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:KLHL11; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000178502; TranscriptID:ENST00000319121; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001067 25241074 miR-137 rs1625579 T N/a 506 scz cases and 522 healthy controls in the han chinese population EFO_0000692 N/A No significance for risk Schizophrenia rs1625579-T of miR-137 and its dysfunction is not significantly associated with schizophrenia by using case-control analysis in 506 SCZ cases and 522 healthy controls in the Han Chinese population. -0.4 Lack of association between microRNA-137 SNP rs1625579 and schizophrenia in a replication study of Han Chinese. case-control analysis hsa-mir-137 miRNA Schizophrenia 0.85 CTGAGTTGAT(G > T)TAATTGTGAT chr1: 98037378 0.2031,0.7969 0.20921731651376146,0.79078268348623853 Region score:0.29; TSS score:0.13; Unmatched score:0.07; Average GERP:0.06902574257425746 GeneName:MIR137HG; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000225206; TranscriptID:ENST00000634594; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001067 22850735 MIR137 rs1625579 T N/A individuals at high genetic risk of SCZ (n=44), and healthy controls (n=81) EFO_0000692 N/A increasing risk schizophrenia rs1625579-T of hsa-mir-137 and its dysfunction is significantly associated with the increasing risk of Schizophrenia by using case-control analysis in individuals at high genetic risk of SCZ (n=44), and healthy controls (n=81) 0.9 Impact of a microRNA MIR137 susceptibility variant on brain function in people at high genetic risk of schizophrenia or bipolar disorder. case-control analysis hsa-mir-137 miRNA Schizophrenia 0.85 CTGAGTTGAT(G > T)TAATTGTGAT chr1: 98037378 0.2031,0.7969 0.20921731651376146,0.79078268348623853 Region score:0.29; TSS score:0.13; Unmatched score:0.07; Average GERP:0.06902574257425746 GeneName:MIR137HG; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000225206; TranscriptID:ENST00000634594; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001067 25250332 miRNA-137 rs1625579 T N/A 611 schizophrenic patients from Southern Chinese Han population EFO_0000692 N/A increasing risk schizophrenia rs1625579 -T of hsa-mir-137 and its dysfunction is significantly associated with the increasing risk of Schizophrenia by using meta-analysis in 611 schizophrenic patients from Southern Chinese Han population 0.4 Association of a miRNA-137 polymorphism with schizophrenia in a Southern Chinese Han population. meta-analysis hsa-mir-137 miRNA Schizophrenia 0.85 - - - - - - NCRV0000001067 21926974 MIR137 rs1625579 G Dominant 17836 cases and 33859 controls EFO_0000692 N/A increasing risk schizophrenia rs1625579-G of hsa-mir-137 and its dysfunction is significantly associated with the increasing risk of Schizophrenia by using genome-wide association analysis in 17836 cases and 33859 controls 0.4 Genome-wide association study identifies five new schizophrenia loci. genome-wide association analysis hsa-mir-137 miRNA Schizophrenia 0.85 CTGAGTTGAT(G > T)TAATTGTGAT chr1: 98037378 0.2031,0.7969 0.20921731651376146,0.79078268348623853 Region score:0.29; TSS score:0.13; Unmatched score:0.07; Average GERP:0.06902574257425746 GeneName:MIR137HG; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000225206; TranscriptID:ENST00000634594; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001067 23459466 miRNA-137 rs1625579 TT Recessive 510 patients with schizophrenia and 213 controls EFO_0000692 N/A Increasing risk Schizophrenia rs1625579 -TT of miRNA-137 and its dysfunction is significantly associated with the increasing risk of schizophrenia by using case-control analysis in 510 patients with schizophrenia and 213 controls. By using the disease cell lines or tissues, the mutation of miRNA-137 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. Moreover, the ncRNA variation-disease association was validated by complex experiments. 1.4 The genome-wide supported microRNA-137 variant predicts phenotypic heterogeneity within schizophrenia. case-control analysis; Function; Mechanism hsa-mir-137 miRNA Schizophrenia 0.85 CTGAGTTGAT(G > T)TAATTGTGAT chr1: 98037378 0.2031,0.7969 0.20921731651376146,0.79078268348623853 Region score:0.29; TSS score:0.13; Unmatched score:0.07; Average GERP:0.06902574257425746 GeneName:MIR137HG; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000225206; TranscriptID:ENST00000634594; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001067 26836412 miR-137 rs1625579 T N/a 89 schizophrenia patients and 132 controls EFO_0000692 N/A Increasing risk Gray matter structure in schizophrenia rs1625579-T of miR-137 and its dysfunction is significantly associated with the increasing risk of gray matter structure in schizophrenia by using case-control analysis in 89 schizophrenia patients and 132 controls. By using the disease cell lines or tissues, the mutation of miR-137 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 Polymorphisms in MIR137HG and microRNA-137-regulated genes influence gray matter structure in schizophrenia. case-control analysis; Function hsa-mir-137 miRNA Schizophrenia 0.85 CTGAGTTGAT(G > T)TAATTGTGAT chr1: 98037378 0.2031,0.7969 0.20921731651376146,0.79078268348623853 Region score:0.29; TSS score:0.13; Unmatched score:0.07; Average GERP:0.06902574257425746 GeneName:MIR137HG; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000225206; TranscriptID:ENST00000634594; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001067 24275578 miR-137 rs1625579 T Recessive 1430 schizophrenia patients and 1570 healthy han chinese control subjects EFO_0000692 N/A Increasing risk Schizophrenia rs1625579-T of miR-137 and its dysfunction is significantly associated with the increasing risk of schizophrenia by using case-control analysis in 1430 schizophrenia patients and 1570 healthy Han Chinese control subjects. 0.4 MIR137 gene and target gene CACNA1C of miR-137 contribute to schizophrenia susceptibility in Han Chinese. case-control analysis hsa-mir-137 miRNA Schizophrenia 0.85 CTGAGTTGAT(G > T)TAATTGTGAT chr1: 98037378 0.2031,0.7969 0.20921731651376146,0.79078268348623853 Region score:0.29; TSS score:0.13; Unmatched score:0.07; Average GERP:0.06902574257425746 GeneName:MIR137HG; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000225206; TranscriptID:ENST00000634594; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001067 24361663 MIR137 rs1625579 T Recessive 81 healthy participants as carrier or non-carriers of the mir137 rs1625579 risk allele associated with schizophrenia EFO_0000692 N/A Increasing risk Schizophrenia rs1625579-T of MIR137 and its dysfunction is significantly associated with the increasing risk of schizophrenia by using case-control analysis in 81 healthy participants as carrier or non-carriers of the MIR137 rs1625579 risk allele associated with schizophrenia. By using the disease cell lines or tissues, the mutation of MIR137 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 Effects of MIR137 on fronto-amygdala functional connectivity. case-control analysis; Function hsa-mir-137 miRNA Schizophrenia 0.85 CTGAGTTGAT(G > T)TAATTGTGAT chr1: 98037378 0.2031,0.7969 0.20921731651376146,0.79078268348623853 Region score:0.29; TSS score:0.13; Unmatched score:0.07; Average GERP:0.06902574257425746 GeneName:MIR137HG; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000225206; TranscriptID:ENST00000634594; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001067 24625753 MIR137 rs1625579 T N/a 290 young, healthy han chinese individuals EFO_0000692 N/A Increasing risk Schizophrenia rs1625579-T of MIR137 and its dysfunction is significantly associated with the increasing risk of schizophrenia by using case-control analysis in 290 young, healthy Han Chinese individuals. 0.4 The impact of MIR137 on dorsolateral prefrontal-hippocampal functional connectivity in healthy subjects. case-control analysis hsa-mir-137 miRNA Schizophrenia 0.85 CTGAGTTGAT(G > T)TAATTGTGAT chr1: 98037378 0.2031,0.7969 0.20921731651376146,0.79078268348623853 Region score:0.29; TSS score:0.13; Unmatched score:0.07; Average GERP:0.06902574257425746 GeneName:MIR137HG; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000225206; TranscriptID:ENST00000634594; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001067 24820543 miRNA-137 rs1625579 T N/a 123 healthy participants EFO_0000692 N/A No significance for risk Schizophrenia rs1625579-T of miRNA-137 and its dysfunction is not significantly associated with schizophrenia by using analysis of sequence variation in 123 healthy participants. -0.4 Genome-wide schizophrenia variant at MIR137 does not impact white matter microstructure in healthy participants. analysis of sequence variation hsa-mir-137 miRNA Schizophrenia 0.85 CTGAGTTGAT(G > T)TAATTGTGAT chr1: 98037378 0.2031,0.7969 0.20921731651376146,0.79078268348623853 Region score:0.29; TSS score:0.13; Unmatched score:0.07; Average GERP:0.06902574257425746 GeneName:MIR137HG; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000225206; TranscriptID:ENST00000634594; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001067 24888363 MIR137 rs1625579 T N/A 345 BD patients, 426 SZ patients and 1376 healthy individuals, all unrelated, in V?sterbotten region of Northern Sweden EFO_0000692 N/A no significance for risk schizophrenia rs1625579-T of hsa-mir-137 and its dysfunction is not significantly associated with Schizophrenia by using case-control analysis in 345 BD patients, 426 SZ patients and 1376 healthy individuals, all unrelated, in V?sterbotten region of Northern Sweden -0.4 MIR137 variants identified in psychiatric patients affect synaptogenesis and neuronal transmission gene sets. case-control analysis hsa-mir-137 miRNA Schizophrenia 0.85 CTGAGTTGAT(G > T)TAATTGTGAT chr1: 98037378 0.2031,0.7969 0.20921731651376146,0.79078268348623853 Region score:0.29; TSS score:0.13; Unmatched score:0.07; Average GERP:0.06902574257425746 GeneName:MIR137HG; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000225206; TranscriptID:ENST00000634594; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001068 28691018 miR-10b rs1867863 C N/A 1,064 breast cancer cases and 1,073 cancer-free controls EFO_0000305 N/A no significance for risk breast carcinoma rs1867863-C of hsa-mir-10b and its dysfunction is not significantly associated with Breast carcinoma by using case-control analysis in 1,064 breast cancer cases and 1,073 cancer-free controls -0.4 Genetic Variants in the Promoter Region of miR-10b and the Risk of Breast Cancer. case-control analysis hsa-mir-10b miRNA Breast carcinoma -0.33 GTCGAACGGT(G > T)GTGGCTCAGA chr2: 176150242 0.5992,0.4008 0.70424789755351681,0.29575210244648318 Region score:0.44; TSS score:0.55; Unmatched score:0.73; Average GERP:0.820009702970297 GeneName:AC009336.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000278500; TranscriptID:ENST00000468418; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXD3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000128652; TranscriptID:ENST00000432796; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXD4; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000170166; TranscriptID:ENST00000306324; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR10B; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207744; TranscriptID:ENST00000385011; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000629033; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001069 27863252 NONHSAT208974.1 rs34794906 C N/A 170,641 european ancestry individuals EFO_0007986 N/A Associate Reticulocyte count rs34794906-C of NONHSAT208974.1 is significantly associated with the reticulocyte count by using GWAS analysis in 170,641 european ancestry individuals(p-value = 2E-23 ;OR = 0.04089973). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT208974.1 lncRNA Reticulocyte count 0.33 GCTGGGAAGA(T > C)GGCTCTGGGA chr6: 31270081 0.5897,0.4103 0.87543800968399592,0.12456199031600407 Region score:0.4; TSS score:0.59; Unmatched score:0.74; Average GERP:-0.27867623762376215 GeneName:HLA-B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000234745; TranscriptID:ENST00000640615; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HLA-C; CADD-Score:5; Consquence:synonymous; GeneID:ENSG00000204525; TranscriptID:ENST00000376228; AnnoType:SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001070 24337371 miR-34 rs4938723 C N/a 545 crc patients and 428 healthy controls EFO_0005842 N/A Decreasing risk Colorectal cancer rs4938723-C of miR-34 and its dysfunction is significantly associated with the decreasing risk of colorectal cancer by using case-control analysis in 545 CRC patients and 428 healthy controls. 0.4 Polymorphisms of the pri-miR-34b/c promoter and TP53 codon 72 are associated with risk of colorectal cancer. case-control analysis hsa-mir-34a miRNA Colorectal cancer 0.33 TTTGACCTAT(T > C)ACAGCTCTCA chr11: 111511840 0.7143,0.2857 0.67424025229357798,0.32575974770642201 Region score:0.24; TSS score:0.41; Unmatched score:0.71; Average GERP:-0.7293356435643562 GeneName:AP002008.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000254980; TranscriptID:ENST00000530283; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:BTG4; CADD-Score:2; Consquence:intron; GeneID:ENSG00000137707; TranscriptID:ENST00000356018; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:C11orf88; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000183644; TranscriptID:ENST00000332814; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR34B; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207811; TranscriptID:ENST00000385076; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR34C; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207562; TranscriptID:ENST00000384831; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001071 26853712 NONHSAT161279.1 rs11263613 G N/A 330 chinese ancestry left-side-affected cases//609 chinese ancestry right-side-affected cases//2,012 chinese ancestry controls; 151 chinese ancestry left-side-affected cases//292 chinese ancestry right-side-affected cases//1,669 chinese ancestry controls Orphanet_141136 N/A Associate Craniofacial microsomia rs11263613-G of NONHSAT161279.1 is significantly associated with the craniofacial microsomia by using GWAS analysis in 330 chinese ancestry left-side-affected cases//609 chinese ancestry right-side-affected cases//2,012 chinese ancestry controls; 151 chinese ancestry left-side-affected cases//292 chinese ancestry right-side-affected cases//1,669 chinese ancestry controls(p-value = 4E-17 ;OR = 1.68). 0.4 Genome-wide association study identifies multiple susceptibility loci for craniofacial microsomia. genome-wide association analysis NONHSAT161279.1 lncRNA Hemifacial microsomia 0.33 AGAGCATGAT(G > A)GCATCTGATG chr11: 69846566 0.9181,0.08187 0.95457441386340468,0.04542558613659531 Region score:0.38; TSS score:0.31; Unmatched score:0.11; Average GERP:-0.8382643564356437 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000434132; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001072 28691018 miR-10b rs4078756 G Dominant 1,064 breast cancer cases and 1,073 cancer-free controls EFO_0000305 N/A increasing risk breast carcinoma rs4078756-G of hsa-mir-10b and its dysfunction is significantly associated with the increasing risk of Breast carcinoma by using case-control analysis in 1,064 breast cancer cases and 1,073 cancer-free controls 0.4 Genetic Variants in the Promoter Region of miR-10b and the Risk of Breast Cancer. case-control analysis hsa-mir-10b miRNA Breast carcinoma 0.33 GGTCACGTTT(T > C)CGGAAATGGC chr2: 176139387 0.9265,0.07348 0.96669533639143730,0.03330466360856269 Region score:0.39; TSS score:0.56; Unmatched score:0.88; Average GERP:0.6385524752475245 GeneName:HOXD3; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000128652; TranscriptID:ENST00000459979; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.2950; mirSVR-E:-14.04 | GeneName:HOXD-AS2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000237380; TranscriptID:ENST00000440016; AnnoType:UPSTREAM; mirSVR-Score:-0.2950; mirSVR-E:-14.04 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000126751; AnnoType:REGULATORY; mirSVR-Score:-0.2950; mirSVR-E:-14.04 | NCRV0000001073 27444415 miR-145 rs353292 T Dominant 809 patients with CRC and 1005 gender matched controls EFO_0005842 N/A increasing risk colorectal cancer rs353292-T of hsa-mir-145 and its dysfunction is significantly associated with the increasing risk of Colorectal cancer by using case-control analysis in 809 patients with CRC and 1005 gender matched controls 0.9 A functional variant rs353292 in the flanking region of miR-143/145 contributes to the risk of colorectal cancer. case-control analysis hsa-mir-145 miRNA Colorectal cancer 0.593 CAGCCTGAGG(G > A)CAATGGGGAG chr5: 149428245 0.7198,0.2802 0.66234231651376146,0.33765768348623853 Region score:0.34; TSS score:0.26; Unmatched score:0.24; Average GERP:-0.7598297029702971 GeneName:AC131025.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000275871; TranscriptID:ENST00000622374; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0004; mirSVR-E:-15.10 | GeneName:CARMN; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000249669; TranscriptID:ENST00000602964; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0004; mirSVR-E:-15.10 | GeneName:MIR143; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284182; TranscriptID:ENST00000385300; AnnoType:UPSTREAM; mirSVR-Score:-0.0004; mirSVR-E:-15.10 | GeneName:MIR145; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000276365; TranscriptID:ENST00000384967; AnnoType:UPSTREAM; mirSVR-Score:-0.0004; mirSVR-E:-15.10 | NCRV0000001074 21909110 NONHSAT189066.1 rs6015450 G N/A 74,064 european ancestry individuals; 48,607 european ancestry individuals EFO_0006340 N/A Associate Blood pressure rs6015450-G of NONHSAT189066.1 is significantly associated with the blood pressure by using GWAS analysis in 74,064 european ancestry individuals; 48,607 european ancestry individuals(p-value = 2E-12 ;OR = 0.521). 0.4 Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. genome-wide association analysis NONHSAT189066.1 lncRNA Mean arterial pressure 0.33 GGAATGCCTT(A > G)TTATTGCCTC chr20: 59176062 0.9022,0.09784 0.86678930937818552,0.13321069062181447 Region score:0.39; TSS score:0.18; Unmatched score:0.12; Average GERP:-0.6414472277227723 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000656350; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ZNF831; CADD-Score:2; Consquence:intron; GeneID:ENSG00000124203; TranscriptID:ENST00000637017; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001075 27863252 NONHSAT220008.1 rs12344280 A N/A 172,435 european ancestry individuals EFO_0004308 N/A Associate White blood cell count rs12344280-A of NONHSAT220008.1 is significantly associated with the white blood cell count by using GWAS analysis in 172,435 european ancestry individuals(p-value = 7E-13 ;OR = 0.03071569). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT220008.1 lncRNA Leukocyte count 0.33 TCAATCATTG(G > A)CATATAATAT chr9: 111163362 0.8564,0.1436 0.80910741590214067,0.19089258409785932 Region score:0.43; TSS score:0.32; Unmatched score:0.03; Average GERP:-0.5423406930693069 GeneName:AL162414.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000227531; TranscriptID:ENST00000426204; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001076 21685187 NONHSAT182644.1 rs10928927 T N/A 3,397 european ancestry cases EFO_0005670 N/A Associate Age at smoking initiation in chronic obstructive pulmonary disease rs10928927-T of NONHSAT182644.1 is significantly associated with the age at smoking initiation in chronic obstructive pulmonary disease by using GWAS analysis in 3,397 european ancestry cases(p-value = 3E-7 ;OR = 0.057). 0.4 Genome-wide association study of smoking behaviours in patients with COPD. genome-wide association analysis NONHSAT182644.1 lncRNA Smoking initiation 0.33 CAGGCAGGGC(C > T)TTCCGCTGCC chr2: 129710793 0.364,0.636 0.30984008664627930,0.69015991335372069 Region score:0.22; TSS score:0.31; Unmatched score:0.14; Average GERP:0.0064849504950495115 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000620037; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001077 25836258 miR-146a rs2910164 G Dominant 102 subjects with as and 105 healthy controls EFO_0003898 N/A Increasing risk Ankylosing spondylitis rs2910164-G of miR-146a and its dysfunction is significantly associated with the increasing risk of ankylosing spondylitis by using case-control analysis in 102 subjects with AS and 105 healthy controls . 0.4 Association between ankylosing spondylitis and the miR-146a and miR-499 polymorphisms. case-control analysis hsa-mir-146a miRNA Ankylosing spondylitis 0.33 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 N/A 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001078 21768215 NONHSAT022024.2 rs606458 T N/A 8,651 african american individuals; 1,996 african american individuals EFO_0004531 N/A Associate Urate levels rs606458-T of NONHSAT022024.2 is significantly associated with the urate levels by using GWAS analysis in 8,651 african american individuals; 1,996 african american individuals(p-value = 6E-11 ;OR = 0.18). 0.4 Genome-wide association study for serum urate concentrations and gout among African Americans identifies genomic risk loci and a novel URAT1 loss-of-function allele. genome-wide association analysis NONHSAT022024.2 lncRNA Urate measurement 0.33 GTCGCTGGTT(C > T)CAGCCTTTTT chr11: 64778919 0.3718,0.6282 0.30436894750254841,0.69563105249745158 Region score:0.47; TSS score:0.36; Unmatched score:0.98; Average GERP:-0.35906930693069306 GeneName:AP001462.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000269038; TranscriptID:ENST00000594089; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000040728; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SF1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000168066; TranscriptID:ENST00000377387; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001079 25944697 H19 rs2839698 T recessive 500 gastric cancer patients and 500 healthy controls. EFO_0000178 N/A increasing risk gastric carcinoma rs2839698-T of H19 and its dysfunction is significantly associated with the increasing risk of Gastric carcinoma by using case-control analysis in 500 gastric cancer patients and 500 healthy controls. 0.4 Tag SNPs in long non-coding RNA H19 contribute to susceptibility to gastric cancer in the Chinese Han population. case-control analysis H19 lncRNA Gastric carcinoma 0.33 ATGCCTGGGC(G > A)CCTACTCCAC chr11: 1997623 0.7071,0.2929 1 Region score:0.36; TSS score:0.46; Unmatched score:0.85; Average GERP:-0.6805287128712875 GeneName:H19; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000130600; TranscriptID:ENST00000414790; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LINC01219; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000232987; TranscriptID:ENST00000418612; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR675; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284010; TranscriptID:ENST00000390168; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000035875; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01972; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000275266; TranscriptID:ENST00000617997; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01973; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000274866; TranscriptID:ENST00000620857; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001080 20881960 NONHSAT160117.1 rs1330 T N/A 133,653 european ancestry individuals; 50,074 european ancestry individuals EFO_0004339 N/A Associate Height rs1330-T of NONHSAT160117.1 is significantly associated with the height by using GWAS analysis in 133,653 european ancestry individuals; 50,074 european ancestry individuals(p-value = 5E-9 ;OR = 0.022). 0.4 Hundreds of variants clustered in genomic loci and biological pathways affect human height. genome-wide association analysis NONHSAT160117.1 lncRNA Body height 0.33 AAAAAATTGG(C > T)ATAAAGATAG chr11: 17294482 0.7007,0.2993 0.69751847604485219,0.30248152395514780 Region score:0.32; TSS score:0.14; Unmatched score:0.3; Average GERP:0.5772514851485151 GeneName:NUCB2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000070081; TranscriptID:ENST00000529010; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001081 25740697 piR_005132 rs2070766 G N/A 1147 patients with CRC (cases) and 1203 cancer-free individuals EFO_0005842 N/A no significance for risk colorectal cancer rs2070766-G of piR_005132 and its dysfunction is not significantly associated with Colorectal cancer by using case-control analysis in 1147 patients with CRC (cases) and 1203 cancer-free individuals -0.4 Genetic variants in noncoding PIWI-interacting RNA and colorectal cancer risk. case-control analysis piR_005132 piRNA Colorectal cancer -0.33 CCTCCTCCCC(C > A,G,T)CGCAGGGTCT chr22: 23895034 0.8265,.,0.1735,. 0.82873821355759429,.,0.17123789500509683,0.00002389143730886 Region score:0.42; TSS score:0.51; Unmatched score:0.93; Average GERP:1.0667227722772277 GeneName:AP000350.4; CADD-Score:5; Consquence:splice,intron; GeneID:ENSG00000251357; TranscriptID:ENST00000433835; AnnoType:SPLICE_SITE; mirSVR-Score:-0.1886; mirSVR-E:-15.78 | GeneName:MIF-AS1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000218537; TranscriptID:ENST00000406213; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.1886; mirSVR-E:-15.78 | GeneName:MIF; CADD-Score:5; Consquence:splice,intron; GeneID:ENSG00000240972; TranscriptID:ENST00000215754; AnnoType:SPLICE_SITE; mirSVR-Score:-0.1886; mirSVR-E:-15.78 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000144308; AnnoType:REGULATORY; mirSVR-Score:-0.1886; mirSVR-E:-15.78 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000668130; AnnoType:REGULATORY; mirSVR-Score:-0.1886; mirSVR-E:-15.78 | NCRV0000001082 22561531 NONHSAT182279.1 rs9807989 ? N/A 933 european ancestry cases//3,346 european ancestry controls; 231 european ancestry cases//1,345 european ancestry controls EFO_0000270 N/A Associate Asthma rs9807989-? of NONHSAT182279.1 is significantly associated with the asthma by using GWAS analysis in 933 european ancestry cases//3,346 european ancestry controls; 231 european ancestry cases//1,345 european ancestry controls(p-value = 6E-8 ;OR = 1.33). 0.4 Genome-wide association study to identify genetic determinants of severe asthma. genome-wide association analysis NONHSAT182279.1 lncRNA Asthma 0.33 ACTTAGATGT(T > C)TCATCTCTGT chr2: 102354740 0.6146,0.3854 0.54630956931702344,0.45369043068297655 Region score:0.13; TSS score:0.15; Unmatched score:0.21; Average GERP:0.033867326732673314 GeneName:IL18R1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000115604; TranscriptID:ENST00000409599; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:IL1RL1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000115602; TranscriptID:ENST00000233954; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001083 27863252 NONHSAT010798.2 rs3811444 T N/A 170,763 european ancestry individuals EFO_0007986 N/A Associate High light scatter reticulocyte count rs3811444-T of NONHSAT010798.2 is significantly associated with the high light scatter reticulocyte count by using GWAS analysis in 170,763 european ancestry individuals(p-value = 1E-30 ;OR = 0.04355681). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT010798.2 lncRNA Reticulocyte count 0.33 GGGGAAACCA(C > T)GCCATCTCCT chr1: 247876149 0.7726,0.2274 0.74839927370030581,0.25160072629969418 Region score:0.13; TSS score:0.23; Unmatched score:0.34; Average GERP:0.6634764356435642 GeneName:TRIM58; CADD-Score:7; Consquence:missense; GeneID:ENSG00000162722; TranscriptID:ENST00000366481; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001084 26198764 NONHSAT191551.1 rs67900830 A N/A 1,505 ashkenazi jewish founder cases//2,553 ashkenazi jewish founder controls EFO_0000692 N/A Associate Schizophrenia rs67900830-A of NONHSAT191551.1 is significantly associated with the schizophrenia by using GWAS analysis in 1,505 ashkenazi jewish founder cases//2,553 ashkenazi jewish founder controls(p-value = 4E-6 ;OR = 1.4705882). 0.4 Genome-wide association study of schizophrenia in Ashkenazi Jews. genome-wide association analysis NONHSAT191551.1 lncRNA Schizophrenia 0.33 TGGACGTAAG(T > A)CACGGGGGAA chr21: 43195762 0.8898,0.1102 0.87589991080530071,0.12410008919469928 Region score:0.35; TSS score:0.38; Unmatched score:0.28; Average GERP:-0.4575623762376238 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001085 28135244 NONHSAT098683.2 rs78049276 C N/A 140,886 european ancestry individuals; 190,318 european ancestry individuals EFO_0005763 N/A Associate Pulse pressure rs78049276-C of NONHSAT098683.2 is significantly associated with the pulse pressure by using GWAS analysis in 140,886 european ancestry individuals; 190,318 european ancestry individuals(p-value = 1E-8 ;OR = 0.2668). 0.4 Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk. genome-wide association analysis NONHSAT098683.2 lncRNA Pulse pressure measurement 0.33 CGGAAGGAAT(A > C)GTGGTACAAA chr4: 147506351 0.8319,0.1681 0.87158352446483180,0.12841647553516819 Region score:0.32; TSS score:0.2; Unmatched score:0.4; Average GERP:0.8543773267326737 GeneName:EDNRA; CADD-Score:2; Consquence:intron; GeneID:ENSG00000151617; TranscriptID:ENST00000324300; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GTF2F2P1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000251254; TranscriptID:ENST00000511083; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001086 27863252 NONHSAT056142.2 rs4789452 A N/A 170,763 european ancestry individuals EFO_0007986 N/A Associate High light scatter reticulocyte count rs4789452-A of NONHSAT056142.2 is significantly associated with the high light scatter reticulocyte count by using GWAS analysis in 170,763 european ancestry individuals(p-value = 5E-15 ;OR = 0.02808327). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT056142.2 lncRNA Reticulocyte count 0.33 ACGGGAAGCC(G > A)TCCGTGGGCC chr17: 77376768 0.7141,0.2859 0.61951293323139653,0.38048706676860346 Region score:0.25; TSS score:0.22; Unmatched score:0.55; Average GERP:-1.6551062376237629 GeneName:AC111182.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000266998; TranscriptID:ENST00000588701; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000098730; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SEPT9; CADD-Score:2; Consquence:intron; GeneID:ENSG00000184640; TranscriptID:ENST00000427177; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001087 28604730 NONHSAT210414.1 rs210191 G N/A 29,266 european ancestry cases//56,450 european ancestry controls EFO_0001071 N/A Associate Lung cancer rs210191-G of NONHSAT210414.1 is significantly associated with the lung cancer by using GWAS analysis in 29,266 european ancestry cases//56,450 european ancestry controls(p-value = 9E-6 ;OR = 1.237917). 0.4 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. genome-wide association analysis NONHSAT210414.1 lncRNA Lung cancer 0.33 GCACAATCAT(G > A)GCCCACCACA chr6: 33499993 0.9702,0.02975 0.97277968909276248,0.02722031090723751 Region score:0.39; TSS score:0.28; Unmatched score:0.05; Average GERP:-0.434592079207921 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001088 27467165 HOTAIR rs920778 T Dominant 510 cervical cancer patients (cases) and 713 cancer-free individuals (controls) in a chinese population EFO_0001061 N/A Poor prognosis Cervical cancer rs920778-T of HOTAIR and its dysfunction is significantly associated with the poor prognosis of cervical cancer by using case-control analysis in 510 cervical cancer patients (cases) and 713 cancer-free individuals (controls) in a Chinese Population. By using the disease cell lines or tissues, the mutation of HOTAIR has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 Association of Long Non-Coding RNA HOTAIR Polymorphisms with Cervical Cancer Risk in a Chinese Population. case-control analysis; Function HOTAIR lncRNA Cervical cancer 0.593 TGAATGTTAC(G > A)GTTTCCTTCA chr12: 53966448 0.4401,0.5599 0.43194922273190621,0.56805077726809378 Region score:0.25; TSS score:0.53; Unmatched score:0.76; Average GERP:2.310435643564358 GeneName:AC012531.4; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000274817; TranscriptID:ENST00000616509; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC012531.5; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277129; TranscriptID:ENST00000611375; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOTAIR; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000228630; TranscriptID:ENST00000424518; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000458643; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01905; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000275589; TranscriptID:ENST00000611210; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01906; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000277994; TranscriptID:ENST00000611352; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001089 26053186 NONHSAT018827.2 rs10501157 ? N/A 362 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//438 european ancestry current smoker individuals//449 latino current smoker individuals//704 japanese ancestry current smoker individuals EFO_0001071 in smokers Associate 3-hydroxypropylmercapturic acid levels in smokers rs10501157-? of NONHSAT018827.2 is significantly associated with the 3-hydroxypropylmercapturic acid levels in smokers by using GWAS analysis in 362 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//438 european ancestry current smoker individuals//449 latino current smoker individuals//704 japanese ancestry current smoker individuals(p-value = 7E-9 ;OR = 0.8987). 0.4 Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer. genome-wide association analysis NONHSAT018827.2 lncRNA Lung cancer 0.33 TATTACGTAT(T > C)TGAGTGTGTG chr11: 36485319 0.978,0.02196 0.98591201580020387,0.01408798419979612 Region score:0.42; TSS score:0.24; Unmatched score:0.15; Average GERP:-0.7683970297029704 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000428320; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TRAF6; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000175104; TranscriptID:ENST00000526995; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001090 28441456 NONHSAT215480.1 rs55940216 G N/A 2,187 european ancestry individuals EFO_0007858 N/A Associate Facial morphology (factor 14//intercanthal width) rs55940216-G of NONHSAT215480.1 is significantly associated with the facial morphology (factor 14//intercanthal width) by using GWAS analysis in 2,187 european ancestry individuals(p-value = 2E-6 ;OR = 0.2002). 0.4 Genome-wide association study of facial morphology reveals novel associations with FREM1 and PARK2. genome-wide association analysis NONHSAT215480.1 lncRNA Eye morphology measurement 0.33 GAAGGGGCCA(A > G)GCTCTTTTAA chr8: 18125408 0.8698,0.1302 0.84149624108053007,0.15850375891946992 Region score:0.25; TSS score:0.17; Unmatched score:0.07; Average GERP:-0.03028712871287126 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001091 28448500 NONHSAT213292.1 rs1055144 ? N/A 561 african american women//352 filipino ancestry women//725 indian ancestry women//19,288 european ancestry women//251 african american men//4,654 indian ancestry men//11,681 european ancestry men//959 european ancestry individuals; 1,437 african american women//5,184 european ancestry women//64 african american men//5,416 european ancestry men EFO_0007789 joint analysis main effects and physical activity interaction Associate Waist circumference adjusted for bmi (joint analysis main effects and physical activity interaction) rs1055144-? of NONHSAT213292.1 is significantly associated with the waist circumference adjusted for bmi (joint analysis main effects and physical activity interaction) by using GWAS analysis in 561 african american women//352 filipino ancestry women//725 indian ancestry women//19,288 european ancestry women//251 african american men//4,654 indian ancestry men//11,681 european ancestry men//959 european ancestry individuals; 1,437 african american women//5,184 european ancestry women//64 african american men//5,416 european ancestry men(p-value = 1E-15 ;OR = ?). 0.4 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. genome-wide association analysis NONHSAT213292.1 lncRNA Bmi-adjusted waist circumference 0.451 CTCTCTTTTC(C > T)TCTCTGTGTT chr7: 25831489 0.7494,0.2506 0.83870890672782874,0.16129109327217125 Region score:0.53; TSS score:0.52; Unmatched score:0.27; Average GERP:0.42235900990098985 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000819552; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001091 28448500 NONHSAT213292.1 rs1055144 T N/A 561 african american women//352 filipino ancestry women//725 indian ancestry women//19,288 european ancestry women//251 african american men//4,654 indian ancestry men//11,681 european ancestry men//959 european ancestry individuals; 1,437 african american women//5,184 european ancestry women//64 african american men//5,416 european ancestry men EFO_0007789 joint analysis main effects and physical activity interaction Associate Waist circumference adjusted for bmi in active individuals rs1055144-T of NONHSAT213292.1 is significantly associated with the waist circumference adjusted for bmi in active individuals by using GWAS analysis in 561 african american women//352 filipino ancestry women//725 indian ancestry women//19,288 european ancestry women//251 african american men//4,654 indian ancestry men//11,681 european ancestry men//959 european ancestry individuals; 1,437 african american women//5,184 european ancestry women//64 african american men//5,416 european ancestry men(p-value = 6E-12 ;OR = 0.0357). 0.4 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. genome-wide association analysis NONHSAT213292.1 lncRNA Bmi-adjusted waist circumference 0.451 CTCTCTTTTC(C > T)TCTCTGTGTT chr7: 25831489 0.7494,0.2506 0.83870890672782874,0.16129109327217125 Region score:0.53; TSS score:0.52; Unmatched score:0.27; Average GERP:0.42235900990098985 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000819552; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001092 27549736 HOTAIR rs920778 T Dominant 6 pairs of ptc tissues and normal specimens adjacent to the tumors EFO_0000641 N/A Increasing risk Papillary thyroid carcinoma(female) rs920778-T of HOTAIR and its dysfunction is significantly associated with the increasing risk of papillary thyroid carcinoma(female) by using case-control analysis in 6 pairs of PTC tissues and normal specimens adjacent to the tumors. 0.4 Onco-lncRNA HOTAIR and its functional genetic variants in papillary thyroid carcinoma. case-control analysis HOTAIR lncRNA Papillary thyroid cancer 0.33 TGAATGTTAC(G > A)GTTTCCTTCA chr12: 53966448 0.4401,0.5599 0.43194922273190621,0.56805077726809378 Region score:0.25; TSS score:0.53; Unmatched score:0.76; Average GERP:2.310435643564358 GeneName:AC012531.4; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000274817; TranscriptID:ENST00000616509; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC012531.5; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277129; TranscriptID:ENST00000611375; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOTAIR; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000228630; TranscriptID:ENST00000424518; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000458643; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01905; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000275589; TranscriptID:ENST00000611210; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01906; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000277994; TranscriptID:ENST00000611352; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001093 24658012 miR-146a rs2910164 G Dominant 520 pediatric uveitis patients and 1204 healthy controls EFO_1001231 N/A Increasing risk Pediatric uveitis rs2910164-G of miR-146a and its dysfunction is significantly associated with the increasing risk of pediatric uveitis by using case-control analysis in 520 pediatric uveitis patients and 1204 healthy controls. 0.4 MicroRNA-146a and Ets-1 gene polymorphisms are associated with pediatric uveitis. case-control analysis hsa-mir-146a miRNA Uveitis 0.33 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 N/A 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001094 28199695 NONHSAT222067.1 rs10761256 G N/A 69,057 european ancestry individuals without immune related conditions EFO_0008377 N/A Associate Itch intensity from mosquito bite adjusted by bite size rs10761256-G of NONHSAT222067.1 is significantly associated with the itch intensity from mosquito bite adjusted by bite size by using GWAS analysis in 69,057 european ancestry individuals without immune related conditions(p-value = 2E-6 ;OR = 0.0181507). 0.4 GWAS of self-reported mosquito bite size, itch intensity and attractiveness to mosquitoes implicates immune-related predisposition loci. genome-wide association analysis NONHSAT222067.1 lncRNA Mosquito bite reaction itch intensity measurement 0.33 CCACCCATTG(C > G)CCTTGAACCC chr9: 93684413 0.4744,0.5256 0.61703618756371049,0.38296381243628950 Region score:0.29; TSS score:0.45; Unmatched score:0.23; Average GERP:0.10881683168316823 GeneName:PHF2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000197724; TranscriptID:ENST00000359246; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001095 21810271 NONHSAT220867.1 rs1757948 G N/A 1,624 european ancestry individuals EFO_0004629 N/A Associate Vwf levels rs1757948-G of NONHSAT220867.1 is significantly associated with the vwf levels by using GWAS analysis in 1,624 european ancestry individuals(p-value = 7E-6 ;OR = 0.15). 0.4 Combined analysis of three genome-wide association studies on vWF and FVIII plasma levels. genome-wide association analysis NONHSAT220867.1 lncRNA Von willebrand factor measurement 0.33 AAAATTATGG(A > C,G)GCAGTGCCAT chr9: 78695764 0.7532,0.2468,. 0.73929663608562691,0.26068743628950050,0.00001592762487257 Region score:0.46; TSS score:0.56; Unmatched score:0.37; Average GERP:1.965052772277228 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001096 25056061 NONHSAT048434.2 rs4702 G N/A 32,405 european ancestry cases//42,221 european ancestry controls//1,235 european ancestry cases and 1,235 european ancestry controls from 1235 parent-offspring trios//1,836 east asian ancestry cases//3,383 east asian ancestry controls; 1,513 european ancestry cases//66,236 european ancestry controls EFO_0000692 N/A Associate Schizophrenia rs4702-G of NONHSAT048434.2 is significantly associated with the schizophrenia by using GWAS analysis in 32,405 european ancestry cases//42,221 european ancestry controls//1,235 european ancestry cases and 1,235 european ancestry controls from 1235 parent-offspring trios//1,836 east asian ancestry cases//3,383 east asian ancestry controls; 1,513 european ancestry cases//66,236 european ancestry controls(p-value = 8E-14 ;OR = 1.0845987). 0.4 Biological insights from 108 schizophrenia-associated genetic loci. genome-wide association analysis NONHSAT048434.2 lncRNA Schizophrenia 0.52 TTTGTAAGAT(G > A,C)CTGGGTTGGT chr15: 90883330 0.3538,0.6462,. 0.31215755606523955,0.65891787716615698,0.02892456676860346 Region score:0.49; TSS score:0.55; Unmatched score:0.86; Average GERP:2.205387128712872 GeneName:FES; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000182511; TranscriptID:ENST00000328850; AnnoType:UPSTREAM; mirSVR-Score:-0.8627; mirSVR-E:-17.14 | GeneName:FURIN; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000140564; TranscriptID:ENST00000618099; AnnoType:3PRIME_UTR; mirSVR-Score:-0.8627; mirSVR-E:-17.14 | NCRV0000001096 28540026 NONHSAT048434.2 rs4702 ? N/A schizophrenia cases and controls (see ripke//2014)cases//up to 1,190 controls EFO_0000692 N/A Associate Schizophrenia rs4702-? of NONHSAT048434.2 is significantly associated with the schizophrenia by using GWAS analysis in schizophrenia cases and controls (see ripke//2014)cases//up to 1,190 controls(p-value = 1E-10 ;OR = 1.0638298). 0.4 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. genome-wide association analysis NONHSAT048434.2 lncRNA Schizophrenia 0.52 TTTGTAAGAT(G > A,C)CTGGGTTGGT chr15: 90883330 0.3538,0.6462,. 0.31215755606523955,0.65891787716615698,0.02892456676860346 Region score:0.49; TSS score:0.55; Unmatched score:0.86; Average GERP:2.205387128712872 GeneName:FES; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000182511; TranscriptID:ENST00000328850; AnnoType:UPSTREAM; mirSVR-Score:-0.8627; mirSVR-E:-17.14 | GeneName:FURIN; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000140564; TranscriptID:ENST00000618099; AnnoType:3PRIME_UTR; mirSVR-Score:-0.8627; mirSVR-E:-17.14 | NCRV0000001096 26198764 NONHSAT048434.2 rs4702 G N/A 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls EFO_0000692 N/A Associate Schizophrenia rs4702-G of NONHSAT048434.2 is significantly associated with the schizophrenia by using GWAS analysis in 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls(p-value = 3E-12 ;OR = 1.0752687). 0.4 Genome-wide association study of schizophrenia in Ashkenazi Jews. genome-wide association analysis NONHSAT048434.2 lncRNA Schizophrenia 0.52 TTTGTAAGAT(G > A,C)CTGGGTTGGT chr15: 90883330 0.3538,0.6462,. 0.31215755606523955,0.65891787716615698,0.02892456676860346 Region score:0.49; TSS score:0.55; Unmatched score:0.86; Average GERP:2.205387128712872 GeneName:FES; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000182511; TranscriptID:ENST00000328850; AnnoType:UPSTREAM; mirSVR-Score:-0.8627; mirSVR-E:-17.14 | GeneName:FURIN; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000140564; TranscriptID:ENST00000618099; AnnoType:3PRIME_UTR; mirSVR-Score:-0.8627; mirSVR-E:-17.14 | NCRV0000001097 28441456 NONHSAT056292.2 rs117691352 A N/A 2,187 european ancestry individuals EFO_0007841 N/A Associate Facial morphology (factor 16) rs117691352-A of NONHSAT056292.2 is significantly associated with the facial morphology (factor 16) by using GWAS analysis in 2,187 european ancestry individuals(p-value = 7E-8 ;OR = 0.5077). 0.4 Genome-wide association study of facial morphology reveals novel associations with FREM1 and PARK2. genome-wide association analysis NONHSAT056292.2 lncRNA Facial morphology measurement 0.33 GCGGGACTTG(G > A)ACTTGGTTGG chr17: 79090739 0.9928,0.007188 0.97849770642201834,0.02150229357798165 Region score:0.51; TSS score:0.78; Unmatched score:0.86; Average GERP:1.1768544554455447 GeneName:ENGASE; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000167280; TranscriptID:ENST00000579016; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0527; mirSVR-E:-12.24 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000565682; AnnoType:REGULATORY; mirSVR-Score:-0.0527; mirSVR-E:-12.24 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000565683; AnnoType:REGULATORY; mirSVR-Score:-0.0527; mirSVR-E:-12.24 | GeneName:RBFOX3; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000167281; TranscriptID:ENST00000580155; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0527; mirSVR-E:-12.24 | NCRV0000001098 29228715 NONHSAT159789.1 rs7927484 ? N/A 978 austrian ancestry colorectal cancer cases//636 austrian ancestry advanced colorectal adenoma cases//4,294 european ancestry controls EFO_0005842 N/A Associate Colorectal cancer rs7927484-? of NONHSAT159789.1 is significantly associated with the colorectal cancer by using GWAS analysis in 978 austrian ancestry colorectal cancer cases//636 austrian ancestry advanced colorectal adenoma cases//4,294 european ancestry controls(p-value = 9E-6 ;OR = 1.287). 0.4 Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas. genome-wide association analysis NONHSAT159789.1 lncRNA Colorectal cancer 0.33 ATCAAAGCCT(T > C)GATAGTTGCT chr11: 123268252 0.7272,0.2728 0.71699796126401630,0.28300203873598369 Region score:0.48; TSS score:0.33; Unmatched score:0.17; Average GERP:-0.9490950495049505 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000445196; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001099 27863252 NONHSAT186800.1 rs11678584 T N/A 170,690 european ancestry individuals EFO_0007986 N/A Associate Reticulocyte count rs11678584-T of NONHSAT186800.1 is significantly associated with the reticulocyte count by using GWAS analysis in 170,690 european ancestry individuals(p-value = 1E-10 ;OR = 0.03437443). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT186800.1 lncRNA Reticulocyte count 0.33 ACAAAAAAAA(A > T)AAATAAATAA chr2: 32338357 0.9052,0.09485 0.87705466360856269,0.12294533639143730 Region score:0.25; TSS score:0.13; Unmatched score:0.03; Average GERP:-0.17503750000000015 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001100 26151496 NONHSAT207099.1 rs9262631 A N/A 21 east asian ancestry cases with agranulocytosis//662 east asian ancestry cases without agranulocytosis; 21 east asian ancestry cases with agranulocytosis//546 east asian ancestry cases without agranulocytosis HP_0012235 N/A Associate Thionamide-induced agranulocytosis in graves' disease rs9262631-A of NONHSAT207099.1 is significantly associated with the thionamide-induced agranulocytosis in graves' disease by using GWAS analysis in 21 east asian ancestry cases with agranulocytosis//662 east asian ancestry cases without agranulocytosis; 21 east asian ancestry cases with agranulocytosis//546 east asian ancestry cases without agranulocytosis(p-value = 6E-19 ;OR = 7.09). 0.4 Genetic determinants of antithyroid drug-induced agranulocytosis by human leukocyte antigen genotyping and genome-wide association study. genome-wide association analysis NONHSAT207099.1 lncRNA Drug-induced agranulocytosis 0.33 ACCCACCAGG(C > A,T)TCCTGACACC chr6: 31056824 0.9333,0.06669,. 0.93941131498470948,0.06057275739041794,0.00001592762487257 Region score:0.2; TSS score:0.25; Unmatched score:0.45; Average GERP:-0.4109009900990097 GeneName:HCG22; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000228789; TranscriptID:ENST00000426185; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.1144; mirSVR-E:-20.71 | NCRV0000001101 25187983 miR-196a-2 rs11614913 T N/A 1,098 individuals, includiing 491 patients were recruited from the Souza Ara煤jo outpatient unit, located at Funda??o Oswaldo Cruz (FIOCRUZ), Rio de Janeiro, Brazil. The data for 607 controls was obtained from a bone marrow donors' bank in Rio de Janeiro comprising of samples from local healthy individuals. EFO_0001054 N/A no significance for risk leprosy rs11614913-T of hsa-mir-196a-2 and its dysfunction is not significantly associated with Leprosy by using case-control analysis in 1,098 individuals, includiing 491 patients were recruited from the Souza Ara煤jo outpatient unit, located at Funda??o Oswaldo Cruz (FIOCRUZ), Rio de Janeiro, Brazil. The data for 607 controls was obtained from a bone marrow donors' bank in Rio de Janeiro comprising of samples from local healthy individuals. -0.4 Pre-miR-146a (rs2910164 G>C) single nucleotide polymorphism is genetically and functionally associated with leprosy. case-control analysis hsa-mir-196a-2 miRNA Leprosy -0.33 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001102 20195514 NONHSAT188016.1 rs6435957 T N/A 5,752 european ancestry related individuals GO_0042476 N/A Associate Primary tooth development (number of teeth) rs6435957-T of NONHSAT188016.1 is significantly associated with the primary tooth development (number of teeth) by using GWAS analysis in 5,752 european ancestry related individuals(p-value = 4E-7 ;OR = ?). 0.4 Genome-wide association study reveals multiple loci associated with primary tooth development during infancy. genome-wide association analysis NONHSAT188016.1 lncRNA Odontogenesis 0.33 GAAGCTGGCA(T > C)ATAAATACAT chr2: 217013486 0.4117,0.5883 0.52788927115188583,0.47211072884811416 Region score:0.36; TSS score:0.53; Unmatched score:0.15; Average GERP:-0.5175247524752477 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001103 28346442 NONHSAT183139.1 rs6755777 T N/A 2,566 european ancestry cases//40,941 european ancestry controls EFO_0006462 N/A Associate Mucinous ovarian carcinoma rs6755777-T of NONHSAT183139.1 is significantly associated with the mucinous ovarian carcinoma by using GWAS analysis in 2,566 european ancestry cases//40,941 european ancestry controls(p-value = 1E-13 ;OR = 1.2623247). 0.4 Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer. genome-wide association analysis NONHSAT183139.1 lncRNA Ovarian mucinous adenocancer 0.33 GGAGACGCAG(T > A,G)AGCGCAGGCT chr2: 176178498 0.1843,.,0.8157 0.24060270132517838,0.00016724006116207,0.75923005861365953 Region score:0.39; TSS score:0.55; Unmatched score:0.96; Average GERP:1.5272277227722766 GeneName:HAGLR; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000224189; TranscriptID:ENST00000452365; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HAGLROS; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000226363; TranscriptID:ENST00000426615; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000629037; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001104 21116278 NONHSAT152481.1 rs6686643 ? N/A 424 european ancestry mild cognitive impairment cases//236 european ancestry alzheimer's disease cases//279 european ancestry controls EFO_0003777 N/A Associate Total ventricular volume rs6686643-? of NONHSAT152481.1 is significantly associated with the total ventricular volume by using GWAS analysis in 424 european ancestry mild cognitive impairment cases//236 european ancestry alzheimer's disease cases//279 european ancestry controls(p-value = 7E-6 ;OR = 0.003). 0.4 Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease. genome-wide association analysis NONHSAT152481.1 lncRNA Heart disease 0.33 TATCTTGCCA(T > C)CTACCTACCC chr1: 165647351 0.775,0.225 0.71539723496432212,0.28460276503567787 Region score:0.18; TSS score:0.18; Unmatched score:0.41; Average GERP:-0.54283 GeneName:MGST3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000143198; TranscriptID:ENST00000367889; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000375990; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001105 20972438 NONHSAT180304.1 rs8102137 C N/A 3,532 european ancestry cases//5,120 european ancestry controls; 8,381 cases//48,275 controls EFO_0000292 N/A Associate Bladder cancer rs8102137-C of NONHSAT180304.1 is significantly associated with the bladder cancer by using GWAS analysis in 3,532 european ancestry cases//5,120 european ancestry controls; 8,381 cases//48,275 controls(p-value = 2E-11 ;OR = 1.13). 0.4 A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci. genome-wide association analysis NONHSAT180304.1 lncRNA Bladder cancer 0.451 GGCTCACTGG(T > C)AGGCACAAAT chr19: 29805946 0.8427,0.1573 0.77783352446483180,0.22216647553516819 Region score:0.39; TSS score:0.51; Unmatched score:0.24; Average GERP:-1.2373772277227726 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000108525; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001105 24163127 NONHSAT180304.1 rs8102137 C N/A up to 2,305 european ancestry cases//up to 3,901 european ancestry controls; up to 13,298 cases//up to 54,535 controls EFO_0000292 N/A Associate Bladder cancer rs8102137-C of NONHSAT180304.1 is significantly associated with the bladder cancer by using GWAS analysis in up to 2,305 european ancestry cases//up to 3,901 european ancestry controls; up to 13,298 cases//up to 54,535 controls(p-value = 1E-11 ;OR = 1.13). 0.4 Genome-wide association study identifies multiple loci associated with bladder cancer risk. genome-wide association analysis NONHSAT180304.1 lncRNA Bladder cancer 0.451 GGCTCACTGG(T > C)AGGCACAAAT chr19: 29805946 0.8427,0.1573 0.77783352446483180,0.22216647553516819 Region score:0.39; TSS score:0.51; Unmatched score:0.24; Average GERP:-1.2373772277227726 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000108525; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001106 26822151 NONHSAT183488.1 rs715 C N/A 1,985 individuals; 1,895 individuals EFO_0000378 N/A Associate Betaine levels in individuals undergoing cardiac evaluation rs715-C of NONHSAT183488.1 is significantly associated with the betaine levels in individuals undergoing cardiac evaluation by using GWAS analysis in 1,985 individuals; 1,895 individuals(p-value = 1E-8 ;OR = 0.05). 0.4 Genome-wide association study and targeted metabolomics identifies sex-specific association of CPS1 with coronary artery disease. genome-wide association analysis NONHSAT183488.1 lncRNA Coronary artery disease 0.33 TTCTGAACTC(T > C)TTCTATACTT chr2: 210678331 0.7638,0.2362 0.72770928899082568,0.27229071100917431 Region score:0.52; TSS score:0.86; Unmatched score:0.84; Average GERP:0.6805089108910892 GeneName:CPS1; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000021826; TranscriptID:ENST00000430249; AnnoType:3PRIME_UTR; mirSVR-Score:-1.1081; mirSVR-E:-13.72 | NCRV0000001107 27863252 NONHSAT076985.2 rs62191825 C N/A 170,721 european ancestry individuals EFO_0005091 N/A Associate Monocyte count rs62191825-C of NONHSAT076985.2 is significantly associated with the monocyte count by using GWAS analysis in 170,721 european ancestry individuals(p-value = 5E-11 ;OR = 0.02473969). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT076985.2 lncRNA Monocyte count 0.33 TTCGGGAGGC(T > C)GAGGTGGGCG chr2: 219187607 0.6292,0.3708 0.86055364424057084,0.13944635575942915 Region score:0.16; TSS score:0.12; Unmatched score:0.08; Average GERP:-0.1473217821782178 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000637194; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RETREG2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000144567; TranscriptID:ENST00000430297; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001108 24324551 NONHSAT070610.2 rs34198350 ? N/A 580 brazilian ancestry individuals EFO_0004278 N/A Associate Qt interval in tripanosoma cruzi seropositivity rs34198350-? of NONHSAT070610.2 is significantly associated with the qt interval in tripanosoma cruzi seropositivity by using GWAS analysis in 580 brazilian ancestry individuals(p-value = 8E-6 ;OR = ?). 0.4 Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects. genome-wide association analysis NONHSAT070610.2 lncRNA Sudden cardiac arrest 0.33 GTATCCCAGA(C > T)GGTGGAGAGA chr2: 47942243 0.9441,0.05591 0.91266883282364933,0.08733116717635066 Region score:0.28; TSS score:0.26; Unmatched score:0.42; Average GERP:-0.699469306930693 GeneName:AC092650.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000230773; TranscriptID:ENST00000447571; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PPIAP62; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000226473; TranscriptID:ENST00000429993; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001109 21856995 AC112706.1 rs3787016 A Dominant 4196 cases and 5007 controls EFO_0001663 N/A increasing risk prostate carcinoma rs3787016-A of AC112706.1 and its dysfunction is significantly associated with the increasing risk of Prostate carcinoma by using meta-analysis in 4196 cases and 5007 controls 0.4 Human polymorphisms at long non-coding RNAs (lncRNAs) and association with prostate cancer risk. meta-analysis AC112706.1 lncRNA Prostate carcinoma 0.33 ATGCACTAAT(A > G)GGAACACCTG chr19: 1090804 0.266,0.734 0.23195400101936799,0.76804599898063200 Region score:0.21; TSS score:0.14; Unmatched score:0.16; Average GERP:-1.0606237623762376 GeneName:ARHGAP45; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180448; TranscriptID:ENST00000539243; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:POLR2E; CADD-Score:2; Consquence:intron; GeneID:ENSG00000099817; TranscriptID:ENST00000615234; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001110 27919232 miRNA-27a rs895819 C N/A normotensive (n=95; 45 HIV+; 80 analysed for rs895819T?>C, age range: 16-46 years) and PE patients (n=98; 45 HIV+; 56 analysed for rs895819T>C), age range: 16-42 years). EFO_0000668 N/A no significance for risk preeclampsia rs895819-C of hsa-mir-27a and its dysfunction is not significantly associated with Preeclampsia by using case-control analysis in normotensive (n=95; 45 HIV+; 80 analysed for rs895819T?>C, age range: 16-46 years) and PE patients (n=98; 45 HIV+; 56 analysed for rs895819T>C), age range: 16-42 years). -0.4 microRNA-27a rs895819 is associated with obesity in HIV infected preeclamptic Black South African women on HAART. case-control analysis hsa-mir-27a miRNA Preeclampsia -0.33 CACGACTTGG(T > C)GTGGACCCTG chr19: 13836478 0.6362,0.3638 0.63091711264016309,0.36908288735983690 Region score:0.57; TSS score:0.41; Unmatched score:0.75; Average GERP:2.158386138613861 GeneName:AC020916.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000267519; TranscriptID:ENST00000587762; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR23A; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207980; TranscriptID:ENST00000385245; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR24-2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284387; TranscriptID:ENST00000386972; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR27A; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207808; TranscriptID:ENST00000385073; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000107447; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ZSWIM4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000132003; TranscriptID:ENST00000254323; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001111 28418933 TINCR rs12610531 G N/A 1400 CRC cases and 1400 healthy controls EFO_0005842 N/A no significance for risk colorectal cancer rs12610531-G of TINCR and its dysfunction is not significantly associated with Colorectal cancer by using case-control analysis in 1400 CRC cases and 1400 healthy controls -0.4 Genetic variation of long non-coding RNA TINCR contribute to the susceptibility and progression of colorectal cancer. case-control analysis TINCR lncRNA Colorectal cancer -0.33 CTAGATACAC(G > A,C)CATGTGGCCC chr19: 5559819 0.7806,0.2194,. 0.84645769622833843,0.15352637614678899,0.00001592762487257 Region score:0.35; TSS score:0.51; Unmatched score:0.65; Average GERP:-0.5669792079207918 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000583108; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000583109; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TINCR; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000223573; TranscriptID:ENST00000448587; AnnoType:3PRIME_UTR; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001112 22778062 SNORA38 rs2736172 T N/A N/A function N/A not significant changes in the structure function rs2736172-T of SNORA38 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in nan -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORA38 snoRNA function -0.049 TCTTTGGACA(C > T)GTAAGAATTG chr6: 31623121 0.621,0.379 0.70150038226299694,0.29849961773700305 Region score:0.42; TSS score:0.22; Unmatched score:0.66; Average GERP:2.929994059405941 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000195571; AnnoType:REGULATORY; mirSVR-Score:-0.3421; mirSVR-E:-11.81 | GeneName:PRRC2A; CADD-Score:2; Consquence:intron; GeneID:ENSG00000204469; TranscriptID:ENST00000376033; AnnoType:INTRONIC; mirSVR-Score:-0.3421; mirSVR-E:-11.81 | GeneName:SNORA38; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000200816; TranscriptID:ENST00000363946; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.3421; mirSVR-E:-11.81 | NCRV0000001113 26634245 NONHSAT218862.1 rs188809019 T N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs188809019-T of NONHSAT218862.1 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 4E-6 ;OR = 0.827). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT218862.1 lncRNA Pulmonary function measurement 0.33 GACTAATTGA(C > G,T)GTAACAGCTC chr8: 128273989 0.9992,.,0.0007987 0.99895674057084607,.,0.00104325942915392 Region score:0.31; TSS score:0.48; Unmatched score:0.39; Average GERP:-0.9153495049504952 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000869560; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000869561; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001114 25936594 NONHSAT208963.1 rs886424 A N/A 346 european ancestry cases//727 european ancestry controls; 185 european ancestry cases//340 european ancestry controls EFO_0001359 N/A Associate Type 1 diabetes and autoimmune thyroid diseases rs886424-A of NONHSAT208963.1 is significantly associated with the type 1 diabetes and autoimmune thyroid diseases by using GWAS analysis in 346 european ancestry cases//727 european ancestry controls; 185 european ancestry cases//340 european ancestry controls(p-value = 3E-14 ;OR = 2.2107). 0.4 Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes. genome-wide association analysis NONHSAT208963.1 lncRNA Type i diabetes mellitus 0.33 CTGCTCCTCA(C > T)CTGTACCCAG chr6: 30814225 0.9595,0.04054 0.91164946483180428,0.08835053516819571 Region score:0.21; TSS score:0.3; Unmatched score:0.57; Average GERP:-0.5504029702970293 GeneName:LINC00243; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000214894; TranscriptID:ENST00000399196; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000195451; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001115 22778062 SNORD115-15 rs72547905 G N/a N/a function N/A Not significant changes in the structure Function rs72547905-G of SNORD115-15 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD115-15 snoRNA Function -0.049 AGAACCTTCT(A > G)TTGTCCTGAA chr15: 25245500 0.997,0.002995 0.99698171508664627,0.00301828491335372 Region score:0.4; TSS score:0.05; Unmatched score:0.49; Average GERP:-0.1318515445544553 GeneName:SNHG14; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000224078; TranscriptID:ENST00000453082; AnnoType:INTRONIC; mirSVR-Score:-0.5726; mirSVR-E:-17.33 | GeneName:SNORD115-39; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000200564; TranscriptID:ENST00000363694; AnnoType:DOWNSTREAM; mirSVR-Score:-0.5726; mirSVR-E:-17.33 | GeneName:SNORD115-40; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000272460; TranscriptID:ENST00000606510; AnnoType:DOWNSTREAM; mirSVR-Score:-0.5726; mirSVR-E:-17.33 | GeneName:SNORD115-41; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000200478; TranscriptID:ENST00000363608; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.5726; mirSVR-E:-17.33 | GeneName:SNORD115-42; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000201143; TranscriptID:ENST00000364273; AnnoType:UPSTREAM; mirSVR-Score:-0.5726; mirSVR-E:-17.33 | GeneName:SNORD115-43; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000202373; TranscriptID:ENST00000365503; AnnoType:UPSTREAM; mirSVR-Score:-0.5726; mirSVR-E:-17.33 | NCRV0000001116 27863252 NONHSAT061038.2 rs10409243 T N/A 169,219 european ancestry individuals EFO_0007988 N/A Associate Myeloid white cell count rs10409243-T of NONHSAT061038.2 is significantly associated with the myeloid white cell count by using GWAS analysis in 169,219 european ancestry individuals(p-value = 1E-9 ;OR = 0.02282543). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT061038.2 lncRNA Myeloid white cell count 0.33 AAAGAAGACA(C > A,G,T)AGCGGGGTTC chr19: 10222312 0.5797,.,.,0.4203 0.50259620285423037,0.00057339449541284,0.00312181447502548,0.49370858817533129 Region score:0.4; TSS score:0.68; Unmatched score:0.57; Average GERP:0.10211980198019809 GeneName:DNMT1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000130816; TranscriptID:ENST00000592342; AnnoType:INTRONIC; mirSVR-Score:-0.8233; mirSVR-E:-4.84 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000584242; AnnoType:REGULATORY; mirSVR-Score:-0.8233; mirSVR-E:-4.84 | GeneName:S1PR2; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000267534; TranscriptID:ENST00000646641; AnnoType:3PRIME_UTR; mirSVR-Score:-0.8233; mirSVR-E:-4.84 | NCRV0000001117 23517042 NONHSAT189818.1 rs6097169 A N/A 6,025 european ancestry children//567 children// 6,334 european ancestry adult individuals//2,050 adult individuals EFO_0001073 in non-asthmatics Associate Body mass index in non-asthmatics rs6097169-A of NONHSAT189818.1 is significantly associated with the body mass index in non-asthmatics by using GWAS analysis in 6,025 european ancestry children//567 children// 6,334 european ancestry adult individuals//2,050 adult individuals(p-value = 5E-7 ;OR = ?). 0.4 Genome-wide association study of body mass index in 23 000 individuals with and without asthma. genome-wide association analysis NONHSAT189818.1 lncRNA Obesity 0.33 AAACTTCTGC(G > A)GAATCTGATT chr20: 52940622 0.7658,0.2342 0.84790711009174311,0.15209288990825688 Region score:0.51; TSS score:0.48; Unmatched score:0.25; Average GERP:0.7502910891089107 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001118 21472816 miR-15a-miR-16-1 locus miR-15a-miR-16-1 locus Deletion - Recessive 42 highly informative prostate cancer cell lines and xenografts EFO_0001663 N/A Increasing risk Prostate cancer Deletion of miR-15a-miR-16-1 locus and its dysfunction is significantly associated with the increasing risk of prostate cancer by using analysis of sequence variation in 42 highly informative prostate cancer cell lines and xenografts. By using the disease cell lines or tissues, the interference of miR-15a-miR-16-1 locus has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 The miR-15a-miR-16-1 locus is homozygously deleted in a subset of prostate cancers. analysis of sequence variation; Function miR-15a-miR-16-1 locus miRNA Prostate cancer 0.593 N/A N/A N/A N/A N/A N/A NCRV0000001119 28232668 NONHSAT192799.1 rs5763674 G N/A 2,033 han chinese ancestry cases//4,051 han chinese ancestry controls; 1,346 han chinese ancestry cases//4,542 han chinese ancestry controls EFO_0003959 N/A Associate Nonsyndromic cleft lip with cleft palate rs5763674-G of NONHSAT192799.1 is significantly associated with the nonsyndromic cleft lip with cleft palate by using GWAS analysis in 2,033 han chinese ancestry cases//4,051 han chinese ancestry controls; 1,346 han chinese ancestry cases//4,542 han chinese ancestry controls(p-value = 1E-7 ;OR = 1.26). 0.4 Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity. genome-wide association analysis NONHSAT192799.1 lncRNA Cleft lip 0.33 TGTTGGCATA(C > T)TGATGAGCCA chr22: 29990369 0.1755,0.8245 0.20566545616717635,0.79433454383282364 Region score:0.38; TSS score:0.16; Unmatched score:0.17; Average GERP:0.07664356435643561 GeneName:AC003681.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000279159; TranscriptID:ENST00000624945; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MTMR3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000100330; TranscriptID:ENST00000401950; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001120 27188998 miR-124 rs531564 G N/A 307 MTLE patients and 306 healthy controls Orphanet_99701 N/A no significance for risk Mesial temporal lobe epilepsy with hippocampal sclerosis rs531564-G of hsa-mir-124-1 and its dysfunction is not significantly associated with Mesial temporal lobe epilepsy with hippocampal sclerosis by using case-control analysis in 307 MTLE patients and 306 healthy controls -0.4 An SNP site in pri-miR-124, a brain expressed miRNA gene, no contribution to mesial temporal lobe epilepsy in an Italian sample. case-control analysis hsa-mir-124-1 miRNA Mesial temporal lobe epilepsy with hippocampal sclerosis -0.33 CCCTGAGTCT(G > C)TTTGCATCTC chr8: 9903189 0.87,0.13 0.86338079765545361,0.13661920234454638 Region score:0.48; TSS score:0.58; Unmatched score:0.92; Average GERP:0.641257425742574 GeneName:LINC00599; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253230; TranscriptID:ENST00000517675; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR124-1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000284321; TranscriptID:ENST00000385275; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000847381; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001121 23648065 NONHSAT214390.1 rs6961860 G N/A 371 japanese ancestry cases//825 japanese ancestry controls DOID_615 all antimetabolite drugs Associate Adverse response to chemotherapy (neutropenia/leucopenia) rs6961860-G of NONHSAT214390.1 is significantly associated with the adverse response to chemotherapy (neutropenia/leucopenia) by using GWAS analysis in 371 japanese ancestry cases//825 japanese ancestry controls(p-value = 5E-6 ;OR = 1.283). 0.4 Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan. genome-wide association analysis NONHSAT214390.1 lncRNA Leukopenia 0.33 AATTCATAGT(C > T)AAACACAATC chr7: 17045697 0.5621,0.4379 0.59187850407747196,0.40812149592252803 Region score:0.29; TSS score:0.32; Unmatched score:0.08; Average GERP:-0.3893257425742574 GeneName:AC073332.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000237773; TranscriptID:ENST00000643090; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AHR; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000106546; TranscriptID:ENST00000645559; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000208875; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001122 25479352 miR-125a rs41275794 A Dominant 389 chinese han rpl patients EFO_1000954 N/A Increasing risk Recurrent pregnancy loss rs41275794-A of miR-125a and its dysfunction is significantly associated with the increasing risk of recurrent pregnancy loss by using analysis of sequence variation in 389 Chinese Han RPL patients. By using the disease cell lines or tissues, the interference and mutation of miR-125a has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. Moreover, the ncRNA variation-disease association was validated by complex experiments. 1.4 Functional study of one nucleotide mutation in pri-miR-125a coding region which related to recurrent pregnancy loss. analysis of sequence variation; Function; Mechanism hsa-mir-125a miRNA Habitual abortion 0.753 TATTTCTGTC(G > A)TTTTTGGTCT chr19: 51693156 0.9756,0.02436 0.97614838175331294,0.02385161824668705 Region score:0.14; TSS score:0.46; Unmatched score:0.53; Average GERP:-0.9082900990099008 GeneName:MIR125A; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000208008; TranscriptID:ENST00000385273; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR99B; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207550; TranscriptID:ENST00000384819; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIRLET7E; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000198972; TranscriptID:ENST00000362102; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SPACA6; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000182310; TranscriptID:ENST00000637797; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SPACA6P-AS; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000269959; TranscriptID:ENST00000602324; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001123 18758464 NONHSAT191834.1 rs2836878 ? N/A 1,011 european ancestry cases//4,250 european ancestry controls; 1,922 european ancestry cases//14,124 european ancestry controls EFO_0003767 N/A Associate Inflammatory bowel disease rs2836878-? of NONHSAT191834.1 is significantly associated with the inflammatory bowel disease by using GWAS analysis in 1,011 european ancestry cases//4,250 european ancestry controls; 1,922 european ancestry cases//14,124 european ancestry controls(p-value = 4E-12 ;OR = 1.41). 0.4 Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease. genome-wide association analysis NONHSAT191834.1 lncRNA Inflammatory bowel disease 0.52 AGTTAAGAAC(G > A)GCTCATCCAG chr21: 39093608 0.7907,0.2093 0.77355695718654434,0.22644304281345565 Region score:0.28; TSS score:0.39; Unmatched score:0.14; Average GERP:-0.7416544554455443 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001123 23128233 NONHSAT191834.1 rs2836878 G N/A 12,924 european ancestry cases//21,442 european ancestry controls; 25,683 european ancestry cases//17,015 european ancestry controls EFO_0003767 N/A Associate Inflammatory bowel disease rs2836878-G of NONHSAT191834.1 is significantly associated with the inflammatory bowel disease by using GWAS analysis in 12,924 european ancestry cases//21,442 european ancestry controls; 25,683 european ancestry cases//17,015 european ancestry controls(p-value = 5E-48 ;OR = 1.18). 0.4 Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. genome-wide association analysis NONHSAT191834.1 lncRNA Inflammatory bowel disease 0.52 AGTTAAGAAC(G > A)GCTCATCCAG chr21: 39093608 0.7907,0.2093 0.77355695718654434,0.22644304281345565 Region score:0.28; TSS score:0.39; Unmatched score:0.14; Average GERP:-0.7416544554455443 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001123 28067908 NONHSAT191834.1 rs2836878 ? N/A 25,042 european and unknown ancestry cases//34,915 european and unknown ancestry controls EFO_0003767 N/A Associate Inflammatory bowel disease rs2836878-? of NONHSAT191834.1 is significantly associated with the inflammatory bowel disease by using GWAS analysis in 25,042 european and unknown ancestry cases//34,915 european and unknown ancestry controls(p-value = 2E-29 ;OR = ?). 0.4 Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease. genome-wide association analysis NONHSAT191834.1 lncRNA Inflammatory bowel disease 0.52 AGTTAAGAAC(G > A)GCTCATCCAG chr21: 39093608 0.7907,0.2093 0.77355695718654434,0.22644304281345565 Region score:0.28; TSS score:0.39; Unmatched score:0.14; Average GERP:-0.7416544554455443 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001124 26634245 NONHSAT023214.2 rs146103351 A N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio rs146103351-A of NONHSAT023214.2 is significantly associated with the post bronchodilator fev1/fvc ratio by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 1E-6 ;OR = 0.167). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT023214.2 lncRNA Pulmonary function measurement 0.33 ATTGATAATA(T > A)TATCAAACCA chr11: 77322906 0.999,0.0009984 0.99925936544342507,0.00074063455657492 Region score:0.36; TSS score:0.75; Unmatched score:0.84; Average GERP:0.7669702970297024 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000436325; AnnoType:REGULATORY; mirSVR-Score:-0.9495; mirSVR-E:-6.71 | GeneName:PAK1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000149269; TranscriptID:ENST00000278568; AnnoType:DOWNSTREAM; mirSVR-Score:-0.9495; mirSVR-E:-6.71 | NCRV0000001125 28739976 NONHSAT028404.2 rs73099903 T N/A 150,134 european ancestry individuals; 87,359 european ancestry individuals//140,886 european and unknown ancestry individuals EFO_0000319 N/A Associate Systolic blood pressure rs73099903-T of NONHSAT028404.2 is significantly associated with the systolic blood pressure by using GWAS analysis in 150,134 european ancestry individuals; 87,359 european ancestry individuals//140,886 european and unknown ancestry individuals(p-value = 2E-10 ;OR = 0.515). 0.4 Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.LID - HYPERTENSIONAHA.117.09438 [pii]LID - 10.1161/HYPERTENSIONAHA.117.09438 [doi]AB - Elevated blood pressure genome-wide association analysis NONHSAT028404.2 lncRNA Cardiovascular disease 0.33 TCAGCCACTT(C > T)CTGTCTCCAG chr12: 53046995 0.9399,0.0601 0.94420553007135575,0.05579446992864424 Region score:0.43; TSS score:0.35; Unmatched score:0.96; Average GERP:-1.022863564356436 GeneName:AC068888.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000257337; TranscriptID:ENST00000546793; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:EIF4B; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000063046; TranscriptID:ENST00000262056; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000268410; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000458346; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TNS2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000111077; TranscriptID:ENST00000314276; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001126 28424481 NONHSAT187030.1 rs79154414 T N/A 115 japanese ancestry female cases//419 japanese ancestry male and female controls EFO_0002689 N/A Associate Obstetric antiphospholipid syndrome rs79154414-T of NONHSAT187030.1 is significantly associated with the obstetric antiphospholipid syndrome by using GWAS analysis in 115 japanese ancestry female cases//419 japanese ancestry male and female controls(p-value = 5E-8 ;OR = 6.2). 0.4 The first genome-wide association study identifying new susceptibility loci for obstetric antiphospholipid syndrome. genome-wide association analysis NONHSAT187030.1 lncRNA Antiphospholipid syndrome 0.33 CAAGAGCCAA(C > T)GGTATACATC chr2: 67897074 0.9932,0.006789 0.99835945463812436,0.00164054536187563 Region score:0.5; TSS score:0.42; Unmatched score:0.19; Average GERP:-0.9390569306930692 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001127 27863252 NONHSAT081029.2 rs8126001 T N/A 172,433 european ancestry individuals EFO_0004526 N/A Associate Mean corpuscular volume rs8126001-T of NONHSAT081029.2 is significantly associated with the mean corpuscular volume by using GWAS analysis in 172,433 european ancestry individuals(p-value = 8E-9 ;OR = 0.02044855). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT081029.2 lncRNA Mean corpuscular volume 0.33 CGCGTCGGCC(C > T)CCACAGTCGC chr20: 64080106 0.5401,0.4599 0.52945017838939857,0.47054982161060142 Region score:0.52; TSS score:0.53; Unmatched score:0.95; Average GERP:-0.7517772277227719 GeneName:LKAAEAR1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000171695; TranscriptID:ENST00000308906; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR6813; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000274034; TranscriptID:ENST00000621638; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000299358; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:OPRL1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000125510; TranscriptID:ENST00000349451; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RGS19; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000171700; TranscriptID:ENST00000395042; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001128 27863252 NONHSAT040174.2 rs2765041 A N/A 170,761 european ancestry individuals EFO_0007986 N/A Associate High light scatter reticulocyte count rs2765041-A of NONHSAT040174.2 is significantly associated with the high light scatter reticulocyte count by using GWAS analysis in 170,761 european ancestry individuals(p-value = 3E-10 ;OR = 0.02492265). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT040174.2 lncRNA Reticulocyte count 0.33 TGGCAGGACT(T > A)TAGGGTAATG chr14: 103525141 0.3005,0.6995 0.32487576452599388,0.67512423547400611 Region score:0.28; TSS score:0.42; Unmatched score:0.58; Average GERP:0.10156435643564352 GeneName:AL133367.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000260285; TranscriptID:ENST00000568177; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CKB; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000166165; TranscriptID:ENST00000348956; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TRMT61A; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000166166; TranscriptID:ENST00000389749; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001129 25479352 miR-125a rs12976445 T Dominant 389 Chinese Han RPL patients EFO_1000954 N/A increasing risk habitual abortion rs12976445-T of hsa-mir-125a and its dysfunction is significantly associated with the increasing risk of Habitual abortion by using analysis of sequence variation in 389 Chinese Han RPL patients 1.4 Functional study of one nucleotide mutation in pri-miR-125a coding region which related to recurrent pregnancy loss. analysis of sequence variation hsa-mir-125a miRNA Habitual abortion 0.753 TCTCTGTGCC(T > C)ATCTCCATCT chr19: 51693200 0.4349,0.5651 0.53015099388379204,0.46984900611620795 Region score:0.17; TSS score:0.49; Unmatched score:0.61; Average GERP:-0.9224930693069308 GeneName:MIR125A; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000208008; TranscriptID:ENST00000385273; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR99B; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207550; TranscriptID:ENST00000384819; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIRLET7E; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000198972; TranscriptID:ENST00000362102; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SPACA6; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000182310; TranscriptID:ENST00000637797; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SPACA6P-AS; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000269959; TranscriptID:ENST00000602324; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001130 27798624 NONHSAT130992.2 rs748802 A N/A 127,919 european ancestry individuals//2,478 asian ancestry individuals//1,734 black individuals//684 mixed ancestry individuals//1,436 individuals; 130,795 european ancestry individuals EFO_0003777 N/A Associate Resting heart rate rs748802-A of NONHSAT130992.2 is significantly associated with the resting heart rate by using GWAS analysis in 127,919 european ancestry individuals//2,478 asian ancestry individuals//1,734 black individuals//684 mixed ancestry individuals//1,436 individuals; 130,795 european ancestry individuals(p-value = 1E-8 ;OR = 0.2022). 0.4 Identification of genomic loci associated with resting heart rate and shared genetic predictors with all-cause mortality. genome-wide association analysis NONHSAT130992.2 lncRNA Heart disease 0.33 GAGGAACGCC(G > A)TGGTCCCTGG chr9: 35909521 0.5779,0.4221 0.57732861875637104,0.42267138124362895 Region score:0.39; TSS score:0.36; Unmatched score:0.92; Average GERP:-0.03156435643564372 GeneName:HRCT1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000196196; TranscriptID:ENST00000354323; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000879570; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000879573; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SPAAR; CADD-Score:3; Consquence:5_prime_UTR; GeneID:ENSG00000235387; TranscriptID:ENST00000443779; AnnoType:5PRIME_UTR; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001131 20520619 mir-196a2 rs11614913 T N/A 230 GBC cases and 230 controls EFO_1001956 N/A no significance for risk gallbladder carcinoma rs11614913-T of hsa-mir-196a-2 and its dysfunction is not significantly associated with Gallbladder carcinoma by using case-control analysis in 230 GBC cases and 230 controls -0.4 Common genetic variants in pre-microRNAs and risk of gallbladder cancer in North Indian population. case-control analysis hsa-mir-196a-2 miRNA Gallbladder carcinoma -0.33 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001132 25673412 NONHSAT197989.1 rs2098771 A N/A up to 56,910 european ancestry men//up to 86,570 european ancestry women; up to 36,570 european ancestry men//30,172 european ancestry women//915 filipino ancestry men//735 filipino ancestry women//2,351 african american/afro-caribbean ancestry men//6,258 african american/afro-caribbean ancestry women//2,285 south asian ancestry men//506 south asian ancestry women//195 seychellois ancestry men//266 seychellois ancestry women EFO_0005093 adjusted for BMI Associate Hip circumference adjusted for bmi rs2098771-A of NONHSAT197989.1 is significantly associated with the hip circumference adjusted for bmi by using GWAS analysis in up to 56,910 european ancestry men//up to 86,570 european ancestry women; up to 36,570 european ancestry men//30,172 european ancestry women//915 filipino ancestry men//735 filipino ancestry women//2,351 african american/afro-caribbean ancestry men//6,258 african american/afro-caribbean ancestry women//2,285 south asian ancestry men//506 south asian ancestry women//195 seychellois ancestry men//266 seychellois ancestry women(p-value = 4E-8 ;OR = 0.0224). 0.4 New genetic loci link adipose and insulin biology to body fat distribution. genome-wide association analysis NONHSAT197989.1 lncRNA Hip circumference 0.33 TAAGTCTAGT(G > A)TTGGCATTTT chr3: 185845486 0.363,0.637 0.41080530071355759,0.58919469928644240 Region score:0.31; TSS score:0.3; Unmatched score:0.19; Average GERP:0.5475059405940598 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001133 26776603 NONHSAT207623.1 rs284515 G N/A 31 japanese ancestry mild cases//282 japanese ancestry moderate cases//131 japanese ancestry severe cases EFO_0000685 N/A Associate Response to anti-tnf therapy in rheumatoid arthritis rs284515-G of NONHSAT207623.1 is significantly associated with the response to anti-tnf therapy in rheumatoid arthritis by using GWAS analysis in 31 japanese ancestry mild cases//282 japanese ancestry moderate cases//131 japanese ancestry severe cases(p-value = 7E-7 ;OR = 0.35). 0.4 A longitudinal genome-wide association study of anti-tumor necrosis factor response among Japanese patients with rheumatoid arthritis. genome-wide association analysis NONHSAT207623.1 lncRNA Rheumatoid arthritis 0.33 AATTTACCTC(A > G)CTTGTGCCCT chr6: 90499109 0.8662,0.1338 0.88700146534148827,0.11299853465851172 Region score:0.21; TSS score:0.1; Unmatched score:0; Average GERP:-0.34409900990099024 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001134 22778062 SNORD65 rs4622550 C N/a N/a function N/A Not significant changes in the structure Function rs4622550-C of SNORD65 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD65 snoRNA Function -0.049 GTGAACCTAT(G > A,C)GTTTTCTGAA chr17: 16441287 0.72,.,0.28 0.65895769622833843,0.00007963812436289,0.34096266564729867 Region score:0.49; TSS score:0.46; Unmatched score:0.73; Average GERP:1.5999112871287122 GeneName:AC093484.4; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000266651; TranscriptID:ENST00000585048; AnnoType:UPSTREAM; mirSVR-Score:-0.1936; mirSVR-E:-7.81 | GeneName:LRRC75A-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000175061; TranscriptID:ENST00000497774; AnnoType:INTRONIC; mirSVR-Score:-0.1936; mirSVR-E:-7.81 | GeneName:LRRC75A; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000181350; TranscriptID:ENST00000470794; AnnoType:DOWNSTREAM; mirSVR-Score:-0.1936; mirSVR-E:-7.81 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000550374; AnnoType:REGULATORY; mirSVR-Score:-0.1936; mirSVR-E:-7.81 | GeneName:SNORD49A; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000277370; TranscriptID:ENST00000384229; AnnoType:DOWNSTREAM; mirSVR-Score:-0.1936; mirSVR-E:-7.81 | GeneName:SNORD49B; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000277108; TranscriptID:ENST00000365172; AnnoType:DOWNSTREAM; mirSVR-Score:-0.1936; mirSVR-E:-7.81 | GeneName:SNORD65; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000277512; TranscriptID:ENST00000391079; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.1936; mirSVR-E:-7.81 | GeneName:TRPV2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000187688; TranscriptID:ENST00000338560; AnnoType:DOWNSTREAM; mirSVR-Score:-0.1936; mirSVR-E:-7.81 | NCRV0000001135 26818947 NONHSAT017523.2 rs117601636 A N/A 15,463 japanese ancestry cases//26,183 japanese ancestry controls; 20,490 east asian ancestry cases//22,922 east asian ancestry controls//38,947 european ancestry cases//121,903 european ancestry controls//10,587 south asian ancestry cases//14,378 south asian ancestry controls//3,848 mexican/latino cases//4,366 mexican/latino controls EFO_0001360 N/A Associate Type 2 diabetes rs117601636-A of NONHSAT017523.2 is significantly associated with the type 2 diabetes by using GWAS analysis in 15,463 japanese ancestry cases//26,183 japanese ancestry controls; 20,490 east asian ancestry cases//22,922 east asian ancestry controls//38,947 european ancestry cases//121,903 european ancestry controls//10,587 south asian ancestry cases//14,378 south asian ancestry controls//3,848 mexican/latino cases//4,366 mexican/latino controls(p-value = 1E-7 ;OR = 1.15959). 0.4 Genome-wide association studies in the Japanese population identify seven novel loci for type 2 diabetes. genome-wide association analysis NONHSAT017523.2 lncRNA Type ii diabetes mellitus 0.33 ATTCCTGCCA(A > G)CAGTGTATAA chr11: 2620807 0.9816,0.01837 0.99370858817533129,0.00629141182466870 Region score:0.24; TSS score:0.05; Unmatched score:0.04; Average GERP:0.103831683168317 GeneName:KCNQ1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000053918; TranscriptID:ENST00000155840; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:KCNQ1OT1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000269821; TranscriptID:ENST00000597346; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001136 27863252 NONHSAT164005.1 rs11348701 A N/A 166,066 european ancestry individuals EFO_0004309 N/A Associate Platelet count rs11348701-A of NONHSAT164005.1 is significantly associated with the platelet count by using GWAS analysis in 166,066 european ancestry individuals(p-value = 3E-34 ;OR = 0.05231826). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT164005.1 lncRNA Platelet count 0.33 CCAAGTCTTG(AT > A)TTTTTTTTTT chr12: 111452429 0.4872,0.5128 0.68429854740061162,0.31570145259938837 N/A GeneName:ATXN2; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000204842; TranscriptID:ENST00000377617; AnnoType:3PRIME_UTR; mirSVR-Score:-1.2935; mirSVR-E:-10.61 | GeneName:SH2B3; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000111252; TranscriptID:ENST00000341259; AnnoType:DOWNSTREAM; mirSVR-Score:-1.2935; mirSVR-E:-10.61 | NCRV0000001137 29047230 RP1-228H13.5 RP1-228H13.5 Amplification - Dominant Hepatocellular carcinoma and normal tissues using tcga rna sequencing data EFO_0000182 N/A Poor prognosis Hepatocellular carcinoma Amplification of RP1-228H13.5 and its dysfunction is significantly associated with the poor prognosis of hepatocellular carcinoma by using case-control analysis in hepatocellular carcinoma and normal tissues using TCGA RNA sequencing data. 0.4 A comprehensive genome-wide analysis of long noncoding RNA expression profile in hepatocellular carcinoma. analysis of sequence variation; Function RP1-228H13.5 lncRNA Hepatocellular cancer 0.33 N/A N/A N/A N/A N/A N/A NCRV0000001138 27863252 NONHSAT182281.1 rs34020101 T N/A 170,672 european ancestry individuals EFO_0007994 N/A Associate Neutrophil percentage of granulocytes rs34020101-T of NONHSAT182281.1 is significantly associated with the neutrophil percentage of granulocytes by using GWAS analysis in 170,672 european ancestry individuals(p-value = 1E-26 ;OR = 0.03903311). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT182281.1 lncRNA Neutrophil percentage of granulocytes 0.33 TAAATATTAG(TA > T)AAAAAAAAAA chr2: 102435014 0.5375,0.4625 0.49025229357798165,0.50974770642201834 N/A GeneName:AC007278.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000234389; TranscriptID:ENST00000450893; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC007278.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000236525; TranscriptID:ENST00000436582; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:IL18RAP; CADD-Score:2; Consquence:intron; GeneID:ENSG00000115607; TranscriptID:ENST00000264260; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR4772; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000264764; TranscriptID:ENST00000581495; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001139 29773352 ANRIL rs10738609 G N/a 200 atherothrombotic stroke cases and 205 controls EFO_1001976 N/A No significance for risk Atherothrombotic stroke rs10738609-G of ANRIL and its dysfunction is not significantly associated with atherothrombotic stroke by using case-control analysis in 200 atherothrombotic stroke cases and 205 controls. -0.4 The ANRIL Genetic Variants and Their Interactions with Environmental Risk Factors on Atherothrombotic Stroke in a Han Chinese Population. case-control analysis ANRIL lncRNA Cardioembolic stroke -0.33 ACTCATCCCC(A > C,G,T)TGAAGGAGAA chr9: 22114496 0.5877,.,0.4123,. 0.57615793832823649,0.00299439347604485,0.41453236493374108,0.00631530326197757 Region score:0.19; TSS score:0.15; Unmatched score:0.23; Average GERP:-0.32763524752475237 GeneName:CDKN2B-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000240498; TranscriptID:ENST00000428597; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01909; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277653; TranscriptID:ENST00000617921; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001140 27863252 NONHSAT161775.1 rs4149577 A N/A 170,721 european ancestry individuals EFO_0005091 N/A Associate Monocyte count rs4149577-A of NONHSAT161775.1 is significantly associated with the monocyte count by using GWAS analysis in 170,721 european ancestry individuals(p-value = 1E-16 ;OR = 0.02984807). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT161775.1 lncRNA Monocyte count 0.33 GTGATCTCTC(G > A,T)GTCCTCTCCG chr12: 6338356 0.4022,0.5978,. 0.38734390927624872,0.61097572629969418,0.00168036442405708 Region score:0.25; TSS score:0.27; Unmatched score:0.67; Average GERP:-0.7795898019801976 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000048285; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TNFRSF1A; CADD-Score:2; Consquence:intron; GeneID:ENSG00000067182; TranscriptID:ENST00000162749; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001141 20639394 NONHSAT149925.1 rs2501324 ? N/A 8,841 korean ancestry individuals; 1,096 korean ancestry individuals EFO_0004570 N/A Associate Bilirubin levels rs2501324-? of NONHSAT149925.1 is significantly associated with the bilirubin levels by using GWAS analysis in 8,841 korean ancestry individuals; 1,096 korean ancestry individuals(p-value = 2E-10 ;OR = 0.14). 0.4 Genome-wide association of serum bilirubin levels in Korean population. genome-wide association analysis NONHSAT149925.1 lncRNA Bilirubin measurement 0.33 TCTGCTGCTT(C > T)TCCAGGATTT chr1: 159886639 0.9856,0.01438 0.98415997706422018,0.01584002293577981 Region score:0.37; TSS score:0.51; Unmatched score:0.64; Average GERP:3.5132871287128684 GeneName:CFAP45; CADD-Score:5; Consquence:synonymous; GeneID:ENSG00000213085; TranscriptID:ENST00000368099; AnnoType:SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001142 24475105 miR-101 rs1011210 G N/A 1064 breast cancer cases and 1073 cancer-free controls EFO_0000305 N/A no significance for risk breast carcinoma rs1011210-G of hsa-mir-101-1 and its dysfunction is not significantly associated with Breast carcinoma by using case-control analysis in 1064 breast cancer cases and 1073 cancer-free controls -0.4 Genetic variations in the flanking regions of miR-101-2 are associated with increased risk of breast cancer. case-control analysis hsa-mir-101-1 miRNA Breast carcinoma -0.33 TACTGCAAAG(T > C)TGAAATTCAC chr1: 65060493 0.5733,0.4267 0.54427879714576962,0.45572120285423037 Region score:0.48; TSS score:0.45; Unmatched score:0.39; Average GERP:-0.683779207920792 GeneName:MIR101-1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000199135; TranscriptID:ENST00000362265; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3671; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000265996; TranscriptID:ENST00000580455; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000252279; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001143 20662065 NONHSAT108777.2 rs3099844 ? N/A 116 european ancestry cases//3,351 european ancestry controls EFO_0004537 N/A Associate Neonatal lupus rs3099844-? of NONHSAT108777.2 is significantly associated with the neonatal lupus by using GWAS analysis in 116 european ancestry cases//3,351 european ancestry controls(p-value = 5E-10 ;OR = 3.34). 0.4 Identification of candidate loci at 6p21 and 21q22 in a genome-wide association study of cardiac manifestations of neonatal lupus. genome-wide association analysis NONHSAT108777.2 lncRNA Neonatal systemic lupus erthematosus 0.33 ATTTAGGGAC(C > A)ATTGCCTTTT chr6: 31481199 0.9177,0.08227 0.88088525739041794,0.11911474260958205 Region score:0.21; TSS score:0.47; Unmatched score:0.29; Average GERP:0.050742574257425836 GeneName:HCP5; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000206337; TranscriptID:ENST00000467369; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001144 25282103 NONHSAT151256.1 rs2806561 A N/A 253,288 european ancestry individuals; 80,067 european ancestry individuals EFO_0004339 N/A Associate Height rs2806561-A of NONHSAT151256.1 is significantly associated with the height by using GWAS analysis in 253,288 european ancestry individuals; 80,067 european ancestry individuals(p-value = 2E-20 ;OR = 0.027). 0.4 Defining the role of common variation in the genomic and biological architecture of adult human height. genome-wide association analysis NONHSAT151256.1 lncRNA Body height 0.33 TGCTACAAAT(A > G)CTCCAGGTGT chr1: 23178302 0.4453,0.5547 0.47504141182466870,0.52495858817533129 Region score:0.35; TSS score:0.4; Unmatched score:0.8; Average GERP:-0.24142871287128706 GeneName:LUZP1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000169641; TranscriptID:ENST00000302291; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000003000; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000250723; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001145 28604730 NONHSAT171935.1 rs28510890 G N/A 23,223 european ancestry cases// 16,964 european ancestry controls EFO_0001071 in ever smokers Associate Lung cancer in ever smokers rs28510890-G of NONHSAT171935.1 is significantly associated with the lung cancer in ever smokers by using GWAS analysis in 23,223 european ancestry cases// 16,964 european ancestry controls(p-value = 8E-6 ;OR = 1.0823249). 0.4 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. genome-wide association analysis NONHSAT171935.1 lncRNA Lung cancer 0.33 GCTTTAGGTG(G > A)AGGCTTCAAG chr15: 92567899 0.6809,0.3191 0.70107830020387359,0.29892169979612640 Region score:0.23; TSS score:0.1; Unmatched score:0.17; Average GERP:0.1095445544554455 GeneName:LINC00930; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000258647; TranscriptID:ENST00000557075; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001146 18084291 NONHSAT170858.1 rs3825776 ? N/A 737 european ancestry cases//721 european ancestry controls; 1,030 european ancestry cases//1,195 european ancestry controls EFO_0000253 N/A Associate Amyotrophic lateral sclerosis rs3825776-? of NONHSAT170858.1 is significantly associated with the amyotrophic lateral sclerosis by using GWAS analysis in 737 european ancestry cases//721 european ancestry controls; 1,030 european ancestry cases//1,195 european ancestry controls(p-value = 9E-6 ;OR = 1.34). 0.4 Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis. genome-wide association analysis NONHSAT170858.1 lncRNA Amyotrophic lateral sclerosis 0.33 CATGGCAATT(T > C)TCTAGTCAAC chr15: 58454631 0.5968,0.4032 0.63097285932721712,0.36902714067278287 Region score:0.48; TSS score:0.39; Unmatched score:0.31; Average GERP:-0.246119603960396 GeneName:AC084781.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000277229; TranscriptID:ENST00000613737; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC084781.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277790; TranscriptID:ENST00000615568; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ALDH1A2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000128918; TranscriptID:ENST00000558239; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LIPC-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000259293; TranscriptID:ENST00000561083; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LIPC; CADD-Score:2; Consquence:intron; GeneID:ENSG00000166035; TranscriptID:ENST00000299022; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000517082; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001147 26198764 NONHSAT067951.2 rs270776 G N/A 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls EFO_0000692 N/A Associate Schizophrenia rs270776-G of NONHSAT067951.2 is significantly associated with the schizophrenia by using GWAS analysis in 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls(p-value = 9E-7 ;OR = 1.0638298). 0.4 Genome-wide association study of schizophrenia in Ashkenazi Jews. genome-wide association analysis NONHSAT067951.2 lncRNA Schizophrenia 0.33 TAATGTCTTT(G > T)TATCCAATAC chr19: 54711025 0.3512,0.6488 0.34045298165137614,0.65954701834862385 Region score:0.22; TSS score:0.2; Unmatched score:0.09; Average GERP:-0.5398376237623763 GeneName:LILRP2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000170858; TranscriptID:ENST00000413439; AnnoType:INTRONIC; mirSVR-Score:-0.4597; mirSVR-E:-7.76 | NCRV0000001148 20860503 NONHSAT203208.1 rs2073643 T N/A 10,365 cases//16,110 controls EFO_0000270 N/A Associate Asthma rs2073643-T of NONHSAT203208.1 is significantly associated with the asthma by using GWAS analysis in 10,365 cases//16,110 controls(p-value = 2E-7 ;OR = 1.11). 0.4 A large-scale, consortium-based genomewide association study of asthma. genome-wide association analysis NONHSAT203208.1 lncRNA Asthma 0.33 ATTTCATCTC(T > C)TGAGTATTAG chr5: 132387596 0.6436,0.3564 0.52932275739041794,0.47067724260958205 Region score:0.25; TSS score:0.37; Unmatched score:0.59; Average GERP:-0.37143564356435665 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000186850; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SLC22A5; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197375; TranscriptID:ENST00000435065; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001149 21793975 miR-135b hsa-mir-135b Amplification - Dominant 48 medulloblastomas EFO_0002939 N/A Increasing risk Medulloblastomas Amplification of miR-135b and its dysfunction is significantly associated with the increasing risk of medulloblastomas by using analysis of sequence variation in 48 medulloblastomas. 0.4 Genetic alterations in microRNAs in medulloblastomas. analysis of sequence variation; Function hsa-mir-135b miRNA Medulloblastoma 0.33 N/A N/A N/A N/A N/A N/A NCRV0000001150 22778062 SNORD115-18 rs12593567 C N/A N/A function N/A not significant changes in the structure function rs12593567-C of SNORD115-18 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in nan -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD115-18 snoRNA function -0.049 CCTTATATTG(T > C)CCTGAAGAGA chr15: 25203253 0 RS=12593567;RSPOS=25203253;dbSNPBuildID=120;SSR=0;SAO=0;VP=0x0500000a0005040002000100;GENEINFO=SNHG14:104472715|SNORD115-18:100033456|SNORD115-19:100033458;WGT=1;VC=SNV;INT;R5;ASP;VLD Region score:0.52; TSS score:0.05; Unmatched score:0.58; Average GERP:0.03302386138613877 GeneName:SNHG14; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000224078; TranscriptID:ENST00000424333; AnnoType:INTRONIC; mirSVR-Score:-0.6981; mirSVR-E:-17.13 | GeneName:SNORD115-16; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000200757; TranscriptID:ENST00000363887; AnnoType:DOWNSTREAM; mirSVR-Score:-0.6981; mirSVR-E:-17.13 | GeneName:SNORD115-17; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000201482; TranscriptID:ENST00000364612; AnnoType:DOWNSTREAM; mirSVR-Score:-0.6981; mirSVR-E:-17.13 | GeneName:SNORD115-18; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000200163; TranscriptID:ENST00000363293; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.6981; mirSVR-E:-17.13 | GeneName:SNORD115-19; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000199968; TranscriptID:ENST00000363098; AnnoType:UPSTREAM; mirSVR-Score:-0.6981; mirSVR-E:-17.13 | GeneName:SNORD115-20; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000201969; TranscriptID:ENST00000365099; AnnoType:UPSTREAM; mirSVR-Score:-0.6981; mirSVR-E:-17.13 | GeneName:SNORD115-21; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000199833; TranscriptID:ENST00000362963; AnnoType:UPSTREAM; mirSVR-Score:-0.6981; mirSVR-E:-17.13 | NCRV0000001151 27863252 NONHSAT205084.1 rs56235845 G N/A 173,039 european ancestry individuals EFO_0004348 N/A Associate Hematocrit rs56235845-G of NONHSAT205084.1 is significantly associated with the hematocrit by using GWAS analysis in 173,039 european ancestry individuals(p-value = 9E-11 ;OR = 0.02442433). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT205084.1 lncRNA Hematocrit 0.33 CGGGTGAGCT(T > G)CCGGGCCGCG chr5: 177371039 0.618,0.382 0.61068902905198776,0.38931097094801223 Region score:0.51; TSS score:0.48; Unmatched score:0.88; Average GERP:0.1969073684210529 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000191328; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000318785; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RGS14; CADD-Score:5; Consquence:splice,intron; GeneID:ENSG00000169220; TranscriptID:ENST00000408923; AnnoType:SPLICE_SITE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001152 27863252 NONHSAT187222.1 rs72079386 A N/A 171,771 european ancestry individuals EFO_0009389 N/A Associate Sum eosinophil basophil counts rs72079386-A of NONHSAT187222.1 is significantly associated with the sum eosinophil basophil counts by using GWAS analysis in 171,771 european ancestry individuals(p-value = 7E-32 ;OR = 0.04354452). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT187222.1 lncRNA Sum of eosinophil and basophil counts 0.33 TTCTTTGTTT(ATGCT > A)TGCTTTTATT chr2: 96565881 0.7332,0.2668 0.69556734199796126,0.30443265800203873 N/A GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001153 28928442 NONHSAT172173.1 rs140427966 ? N/A 35,000 european ancestry cases//33,478 european ancestry controls EFO_0008413 N/A Associate Urinary tract infection frequency rs140427966-? of NONHSAT172173.1 is significantly associated with the urinary tract infection frequency by using GWAS analysis in 35,000 european ancestry cases//33,478 european ancestry controls(p-value = 1E-7 ;OR = 0.3806). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. genome-wide association analysis NONHSAT172173.1 lncRNA Susceptibility to urinary tract infection measurement 0.33 CCTTCCCATC(A > G)AAGTTTCCCC chr15: 44199188 0.9988,0.001198 0.99795330020387359,0.00204669979612640 Region score:0.48; TSS score:0.38; Unmatched score:0.28; Average GERP:0.29326831683168303 GeneName:FRMD5; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000171877; TranscriptID:ENST00000417257; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001154 25343990 NONHSAT202792.1 rs921943 T N/A 9,639 european ancestry individuals EFO_0000319 N/A Associate Blood and toenail selenium levels rs921943-T of NONHSAT202792.1 is significantly associated with the blood and toenail selenium levels by using GWAS analysis in 9,639 european ancestry individuals(p-value = 2E-39 ;OR = ?). 0.4 Genome-wide association study of selenium concentrations. genome-wide association analysis NONHSAT202792.1 lncRNA Cardiovascular disease 0.33 CTAGAATCAA(C > T)ATTGTCTTAT chr5: 79020653 0.6941,0.3059 0.67079988532110091,0.32920011467889908 Region score:0.3; TSS score:0.36; Unmatched score:0.44; Average GERP:0.6816069306930695 GeneName:DMGDH; CADD-Score:2; Consquence:intron; GeneID:ENSG00000132837; TranscriptID:ENST00000255189; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000315774; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001155 26634245 NONHSAT161284.1 rs150267141 T N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio rs150267141-T of NONHSAT161284.1 is significantly associated with the post bronchodilator fev1/fvc ratio by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 3E-6 ;OR = 0.134). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT161284.1 lncRNA Pulmonary function measurement 0.33 CCCGAGTAGC(C > T)AGAATTATAG chr11: 70242193 0.9794,0.02057 0.96735633282364933,0.03264366717635066 Region score:0.25; TSS score:0.23; Unmatched score:0.1; Average GERP:0.03959405940594059 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001156 22778062 SNORD115-17 rs74005415 A N/a N/a function N/A Not significant changes in the structure Function rs74005415-A of SNORD115-17 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD115-17 snoRNA Function -0.049 GATGAGAACC(T > A)TATATTGTCC chr15: 25201341 0.9726,0.02736 0.96906058868501529,0.03093941131498470 Region score:0.53; TSS score:0.12; Unmatched score:0.59; Average GERP:-0.13078415841584162 GeneName:SNHG14; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000224078; TranscriptID:ENST00000424333; AnnoType:INTRONIC; mirSVR-Score:-0.0491; mirSVR-E:-10.64 | GeneName:SNORD115-15; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000201679; TranscriptID:ENST00000364809; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0491; mirSVR-E:-10.64 | GeneName:SNORD115-16; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000200757; TranscriptID:ENST00000363887; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0491; mirSVR-E:-10.64 | GeneName:SNORD115-17; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000201482; TranscriptID:ENST00000364612; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0491; mirSVR-E:-10.64 | GeneName:SNORD115-18; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000200163; TranscriptID:ENST00000363293; AnnoType:UPSTREAM; mirSVR-Score:-0.0491; mirSVR-E:-10.64 | GeneName:SNORD115-19; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000199968; TranscriptID:ENST00000363098; AnnoType:UPSTREAM; mirSVR-Score:-0.0491; mirSVR-E:-10.64 | GeneName:SNORD115-20; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000201969; TranscriptID:ENST00000365099; AnnoType:UPSTREAM; mirSVR-Score:-0.0491; mirSVR-E:-10.64 | NCRV0000001157 23903356 NONHSAT082239.2 rs6517656 G N/A 1,367 european ancestry individuals//817 hispanic individuals//1,075 afro-caribbean individuals//1,178 thai ancestry individuals; 2,798 european ancestry individuals//228 french canadian founder population individuals EFO_0005187 N/A Associate Glycemic traits (pregnancy) rs6517656-G of NONHSAT082239.2 is significantly associated with the glycemic traits (pregnancy) by using GWAS analysis in 1,367 european ancestry individuals//817 hispanic individuals//1,075 afro-caribbean individuals//1,178 thai ancestry individuals; 2,798 european ancestry individuals//228 french canadian founder population individuals(p-value = 6E-16 ;OR = 0.0402). 0.4 Identification of HKDC1 and BACE2 as genes influencing glycemic traits during pregnancy through genome-wide association studies. genome-wide association analysis NONHSAT082239.2 lncRNA C-peptide measurement 0.33 TAGATGAATC(G > A)CCCAGTTTTT chr21: 41211811 0.6707,0.3293 0.66375987512742099,0.33624012487257900 Region score:0.42; TSS score:0.34; Unmatched score:0.2; Average GERP:1.4172297029702978 GeneName:BACE2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000182240; TranscriptID:ENST00000330333; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001158 25673412 NONHSAT195785.1 rs11242 T N/A up to 56,910 european ancestry men//up to 86,570 european ancestry women; up to 36,570 european ancestry men//30,172 european ancestry women//915 filipino ancestry men//735 filipino ancestry women//2,351 african american/afro-caribbean ancestry men//6,258 african american/afro-caribbean ancestry women//2,285 south asian ancestry men//506 south asian ancestry women//195 seychellois ancestry men//266 seychellois ancestry women EFO_0005093 adjusted for BMI Associate Hip circumference adjusted for bmi rs11242-T of NONHSAT195785.1 is significantly associated with the hip circumference adjusted for bmi by using GWAS analysis in up to 56,910 european ancestry men//up to 86,570 european ancestry women; up to 36,570 european ancestry men//30,172 european ancestry women//915 filipino ancestry men//735 filipino ancestry women//2,351 african american/afro-caribbean ancestry men//6,258 african american/afro-caribbean ancestry women//2,285 south asian ancestry men//506 south asian ancestry women//195 seychellois ancestry men//266 seychellois ancestry women(p-value = 1E-11 ;OR = 0.035). 0.4 New genetic loci link adipose and insulin biology to body fat distribution. genome-wide association analysis NONHSAT195785.1 lncRNA Hip circumference 0.33 CCTGAAGTCA(T > C)GTCATTTTGT chr3: 53091906 0.5096,0.4904 0.51588780581039755,0.48411219418960244 Region score:0.34; TSS score:0.24; Unmatched score:0.47; Average GERP:0.6782673267326732 GeneName:AC096887.1; CADD-Score:2; Consquence:intron,NMD; GeneID:ENSG00000272305; TranscriptID:ENST00000607283; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RFT1; CADD-Score:5; Consquence:synonymous; GeneID:ENSG00000163933; TranscriptID:ENST00000296292; AnnoType:SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001159 25673413 NONHSAT171950.1 rs4984406 T N/A up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals EFO_0001073 N/A Associate Body mass index rs4984406-T of NONHSAT171950.1 is significantly associated with the body mass index by using GWAS analysis in up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals(p-value = 1E-6 ;OR = 0.019). 0.4 Genetic studies of body mass index yield new insights for obesity biology. genome-wide association analysis NONHSAT171950.1 lncRNA Obesity 0.33 GATTGACAAG(T > C)GTTGACACAA chr15: 94725265 0.5391,0.4609 0.52559569317023445,0.47440430682976554 Region score:0.27; TSS score:0.22; Unmatched score:0.06; Average GERP:-0.6023012871287133 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001160 19151714 NONHSAT157953.1 rs10508503 C N/A 695 european ancestry adult cases//731 european ancestry adult controls//685 european ancestry child cases//685 european ancestry child controls; 1,171 european ancestry adult cases//1,114 european ancestry adult controls//4,417 european ancestry adults//896 european ancestry child cases//1,297 european ancestry child and young adult controls//5,291 european ancestry children EFO_0001073 N/A Associate Obesity rs10508503-C of NONHSAT157953.1 is significantly associated with the obesity by using GWAS analysis in 695 european ancestry adult cases//731 european ancestry adult controls//685 european ancestry child cases//685 european ancestry child controls; 1,171 european ancestry adult cases//1,114 european ancestry adult controls//4,417 european ancestry adults//896 european ancestry child cases//1,297 european ancestry child and young adult controls//5,291 european ancestry children(p-value = 2E-7 ;OR = ?). 0.4 Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations. genome-wide association analysis NONHSAT157953.1 lncRNA Obesity 0.33 TTATAGGAGA(C > A,T)CGTGATGCAT chr10: 16257952 0.9694,.,0.03055 0.94212697502548419,0.00001592762487257,0.05785709734964322 Region score:0.36; TSS score:0.17; Unmatched score:0.02; Average GERP:-0.7979960396039605 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001161 23382691 NONHSAT221713.1 rs1577330 G N/A 2,247 european ancestry individuals EFO_0002690 N/A Associate Igg glycosylation rs1577330-G of NONHSAT221713.1 is significantly associated with the igg glycosylation by using GWAS analysis in 2,247 european ancestry individuals(p-value = 4E-6 ;OR = 0.1746). 0.4 Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. genome-wide association analysis NONHSAT221713.1 lncRNA Systemic lupus erythematosus 0.33 GGGGGTAGCT(A > G)GAGGCCCCTG chr9: 27075717 0.5441,0.4559 0.66536856523955147,0.33463143476044852 Region score:0.23; TSS score:0.14; Unmatched score:0.01; Average GERP:0.08967326732673273 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001162 29803923 HULC rs3005167 C N/a 521 patients and 817 sex- and age (隆脌5) frequency-matched controls in the risk study; among them, 351 hepatocellular cancer patients were involved in the prognosis study. EFO_0000182 N/A No significance for risk Hepatocellular cancer rs3005167-C of HULC and its dysfunction is not significantly associated with hepatocellular cancer by using case-control analysis in 521 patients and 817 sex- and age (隆脌5) frequency-matched controls in the risk study; Among them, 351 hepatocellular cancer patients were involved in the prognosis study. . -0.4 The association of lncRNA-HULC polymorphisms with hepatocellular cancer risk and prognosis. case-control analysis HULC lncRNA Hepatocellular cancer -0.33 TAAAACAAGA(C > A,G)CAGAGAGCCC chr6: 8651582 0.3069,.,0.6931 0.27532492354740061,0.00022298674821610,0.72445208970438328 Region score:0.43; TSS score:0.64; Unmatched score:0.72; Average GERP:2.04820297029703 GeneName:AL355499.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000285216; TranscriptID:ENST00000644718; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AL591485.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000285219; TranscriptID:ENST00000642357; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF02101; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000276019; TranscriptID:ENST00000612720; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001163 30001553 miR-146a rs2910164 C Recessive 2,227 prostate cancer patients and 2,331 control subjects in asian population EFO_0001663 N/A Decreasing risk Prostate cancer rs2910164-C of miR-146a and its dysfunction is significantly associated with the decreasing risk of prostate cancer by using meta-analysis in 2,227 prostate cancer patients and 2,331 control subjects in Asian population. 0.4 The Association Between Three Genetic Variants in MicroRNAs (Rs11614913, Rs2910164, Rs3746444) and Prostate Cancer Risk. meta-analysis hsa-mir-146a miRNA Prostate cancer 0.181 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 N/A 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001163 19902466 miR-146a rs2910164 C Recessive 251 cap and 280 control subjects EFO_0001663 N/A Decreasing risk Prostate cancer rs2910164-C of miR-146a and its dysfunction is significantly associated with the decreasing risk of prostate cancer by using case-control analysis in 251 CaP and 280 control subjects. 0.4 A functional polymorphism in Pre-miR-146a gene is associated with prostate cancer risk and mature miR-146a expression in vivo. case-control analysis hsa-mir-146a miRNA Prostate cancer 0.181 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 N/A 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001163 20842445 hsa-mir146a rs2910164 G N/A 159 prostate cancer patients and 230 matched controls EFO_0001663 N/A no significance for risk prostate carcinoma rs2910164-G of hsa-mir-146a and its dysfunction is not significantly associated with Prostate carcinoma by using case-control analysis in 159 prostate cancer patients and 230 matched controls -0.4 Genetic variation in microRNA genes and prostate cancer risk in North Indian population. case-control analysis hsa-mir-146a miRNA Prostate carcinoma 0.181 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 0 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001164 27021288 NONHSAT010234.2 rs10910623 A N/A 750 european ancestry child cases EFO_0003888 N/A Associate Oppositional defiant disorder dimensions in attention-deficit hyperactivity disorder rs10910623-A of NONHSAT010234.2 is significantly associated with the oppositional defiant disorder dimensions in attention-deficit hyperactivity disorder by using GWAS analysis in 750 european ancestry child cases(p-value = 3E-7 ;OR = 0.7022). 0.4 Genome-wide analyses of aggressiveness in attention-deficit hyperactivity disorder. genome-wide association analysis NONHSAT010234.2 lncRNA Attention deficit hyperactivity disorder 0.33 TGTTACTTTT(G > A)GCATTATTTA chr1: 232802953 0.8974,0.1026 0.91771788990825688,0.08228211009174311 Region score:0.39; TSS score:0.17; Unmatched score:0.21; Average GERP:0.16327227722772286 GeneName:MAP10; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000212916; TranscriptID:ENST00000418460; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001165 27863252 NONHSAT130819.2 rs11557154 T N/A 171,542 european ancestry individuals EFO_0007990 N/A Associate Neutrophil percentage of white cells rs11557154-T of NONHSAT130819.2 is significantly associated with the neutrophil percentage of white cells by using GWAS analysis in 171,542 european ancestry individuals(p-value = 2E-9 ;OR = 0.03189868). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT130819.2 lncRNA Neutrophil percentage of leukocytes 0.33 TCCAGGCTCC(C > T)GGTCTTTCAG chr9: 34107507 0.773,0.227 0.86009970693170234,0.13990029306829765 Region score:0.24; TSS score:0.19; Unmatched score:0.51; Average GERP:3.8338514851485126 GeneName:DCAF12; CADD-Score:7; Consquence:missense; GeneID:ENSG00000198876; TranscriptID:ENST00000361264; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TUBB4BP2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000224802; TranscriptID:ENST00000454125; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001166 25189868 NONHSAT218749.1 rs6989684 ? N/A up to 6,889 individuals EFO_0006335 N/A Associate Blood pressure (smoking interaction) rs6989684-? of NONHSAT218749.1 is significantly associated with the blood pressure (smoking interaction) by using GWAS analysis in up to 6,889 individuals(p-value = 4E-6 ;OR = ?). 0.4 Gene-smoking interactions identify several novel blood pressure loci in the Framingham Heart Study. genome-wide association analysis NONHSAT218749.1 lncRNA Systolic blood pressure 0.33 CACGTTCTTC(C > G,T)ACGCGGCTGT chr8: 119130800 0.7508,.,0.2492 0.78142520387359836,0.00001592762487257,0.21855886850152905 Region score:0.37; TSS score:0.28; Unmatched score:0.13; Average GERP:-1.6352841584158424 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001167 27089181 NONHSAT199055.1 rs6842789 A N/A 170,911 european ancestry individuals EFO_0007660 N/A Associate Neuroticism rs6842789-A of NONHSAT199055.1 is significantly associated with the neuroticism by using GWAS analysis in 170,911 european ancestry individuals(p-value = 4E-6 ;OR = 0.02267423). 0.4 Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses. genome-wide association analysis NONHSAT199055.1 lncRNA Neuroticism measurement 0.33 TAATTACATT(C > A)TGCCTAGAGT chr4: 124054077 0.9437,0.05631 0.91296349388379204,0.08703650611620795 Region score:0.34; TSS score:0.5; Unmatched score:0.33; Average GERP:2.322682178217822 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000735554; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001168 25673413 NONHSAT180659.1 rs11672550 T N/A up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals EFO_0001073 N/A Associate Body mass index rs11672550-T of NONHSAT180659.1 is significantly associated with the body mass index by using GWAS analysis in up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals(p-value = 1E-7 ;OR = 0.021). 0.4 Genetic studies of body mass index yield new insights for obesity biology. genome-wide association analysis NONHSAT180659.1 lncRNA Obesity 0.33 CTTCTTGCTC(C > T)AGGCCGGCGA chr19: 1937194 0.6609,0.3391 0.59124139908256880,0.40875860091743119 Region score:0.34; TSS score:0.41; Unmatched score:0.31; Average GERP:0.048326732673267335 GeneName:CSNK1G2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000133275; TranscriptID:ENST00000255641; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000581916; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001169 28334935 NONHSAT176601.1 rs73373322 C N/A 12,580 hispanic/latino individuals EFO_0006332 N/A Associate Iron status biomarkers (iron levels) rs73373322-C of NONHSAT176601.1 is significantly associated with the iron status biomarkers (iron levels) by using GWAS analysis in 12,580 hispanic/latino individuals(p-value = 4E-7 ;OR = 0.304). 0.4 Genome-wide association study of iron traits and relation to diabetes in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL): potential genomic intersection of iron and glucose regulation? genome-wide association analysis NONHSAT176601.1 lncRNA Serum iron measurement 0.33 CCGTGGCCCT(C > T)GTGGGGTCAT chr17: 77385957 0.9357,0.0643 0.96122419724770642,0.03877580275229357 Region score:0.32; TSS score:0.27; Unmatched score:0.19; Average GERP:-0.8554623762376246 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000565062; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SEPT9; CADD-Score:2; Consquence:intron; GeneID:ENSG00000184640; TranscriptID:ENST00000427177; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001170 20195266 NONHSAT210772.1 rs1577917 ? N/A 421 european ancestry//214 african american//and 103 cases GO_0097338 N/A Associate Response to antipsychotic treatment rs1577917-? of NONHSAT210772.1 is significantly associated with the response to antipsychotic treatment by using GWAS analysis in 421 european ancestry//214 african american//and 103 cases(p-value = 3E-6 ;OR = ?). 0.4 Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs. genome-wide association analysis NONHSAT210772.1 lncRNA Response to clozapine 0.33 TTGCTCTGAT(C > T)ACCAGTAGAG chr6: 85982222 0.8187,0.1813 0.77883696483180428,0.22116303516819571 Region score:0.19; TSS score:0.04; Unmatched score:0.01; Average GERP:0.07416831683168328 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001171 22903471 NONHSAT149849.1 rs11264736 T N/A 162 european ancestry alzheimer's disease cases//346 european ancestry mild cognitive impairment cases//198 european ancestry controls//639 european ancestry individuals from 364 families EFO_0000249 N/A Associate Lentiform nucleus volume rs11264736-T of NONHSAT149849.1 is significantly associated with the lentiform nucleus volume by using GWAS analysis in 162 european ancestry alzheimer's disease cases//346 european ancestry mild cognitive impairment cases//198 european ancestry controls//639 european ancestry individuals from 364 families(p-value = 4E-6 ;OR = 98.69). 0.4 Genome-wide association identifies genetic variants associated with lentiform nucleus volume in N = 1345 young and elderly subjects. genome-wide association analysis NONHSAT149849.1 lncRNA Alzheimers disease 0.33 TCAGCTCCAT(C > G,T)TGCTGTAAGA chr1: 153966654 0.2973,.,0.7027 0.39927370030581039,0.00600471457696228,0.59472158511722731 Region score:0.38; TSS score:0.43; Unmatched score:0.77; Average GERP:0.06049009900990099 GeneName:AL358472.3; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000273026; TranscriptID:ENST00000608147; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AL358472.4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000282386; TranscriptID:ENST00000633140; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AL358472.7; CADD-Score:2; Consquence:intron,NMD; GeneID:ENSG00000285779; TranscriptID:ENST00000648921; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CREB3L4; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000143578; TranscriptID:ENST00000368607; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR6737; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000276584; TranscriptID:ENST00000617385; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000013864; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SLC39A1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000143570; TranscriptID:ENST00000368623; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001172 28892062 NONHSAT145215.2 rs3026101 C N/A up to 72,390 japanese ancestry women//up to 85,894 japanese ancestry men; up to 10,048 japanese ancestry women//up to 5,098 japanese ancestry men//up to 181,999 european ancestry women//up to 140,155 european ancestry controls EFO_0001073 N/A Associate Body mass index rs3026101-C of NONHSAT145215.2 is significantly associated with the body mass index by using GWAS analysis in up to 72,390 japanese ancestry women//up to 85,894 japanese ancestry men; up to 10,048 japanese ancestry women//up to 5,098 japanese ancestry men//up to 181,999 european ancestry women//up to 140,155 european ancestry controls(p-value = 9E-9 ;OR = 0.014). 0.4 Genome-wide association study identifies 112 new loci for body mass index in the Japanese population. genome-wide association analysis NONHSAT145215.2 lncRNA Obesity 0.33 TAAAATACCG(T > C)GAGGACATCA chr17: 5377145 0.608,0.392 0.69113149847094801,0.30886850152905198 Region score:0.46; TSS score:0.28; Unmatched score:0.51; Average GERP:1.7699452475247521 GeneName:NUP88; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000108559; TranscriptID:ENST00000573169; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RABEP1; CADD-Score:5; Consquence:synonymous; GeneID:ENSG00000029725; TranscriptID:ENST00000537505; AnnoType:SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001173 27583835 lincRNA-NR_024015 rs8506 A N/A 581 ESCC cases and 677 healthy controls EFO_0005922 N/A increasing risk esophageal squamous cell carcinoma rs8506-A of lincRNA-NR_024015 and its dysfunction is significantly associated with the increasing risk of Esophageal squamous cell carcinoma by using case-control analysis in 581 ESCC cases and 677 healthy controls 0.9 A genetic polymorphism at miR-526b binding-site in the lincRNA-NR_024015 exon confers risk of esophageal squamous cell carcinoma in a population of North China. case-control analysis lincRNA-NR_024015 lncRNA Esophageal squamous cell carcinoma 0.593 CTGTGGGGCT(C > T)AAGAAGCCTG chr6: 40379813 0.8822,0.1178 0.90226012996941896,0.09773987003058103 Region score:0.33; TSS score:0.45; Unmatched score:0.67; Average GERP:-0.25059445544554443 GeneName:TDRG1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000204091; TranscriptID:ENST00000373170; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.4971; mirSVR-E:-22.42 | NCRV0000001174 24578207 NONHSAT213362.1 rs1014137 C N/A 466 european ancestry individuals Orphanet_136 N/A Associate White matter hyperintensity volume in cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy rs1014137-C of NONHSAT213362.1 is significantly associated with the white matter hyperintensity volume in cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy by using GWAS analysis in 466 european ancestry individuals(p-value = 8E-6 ;OR = 0.0241). 0.4 Genome-wide genotyping demonstrates a polygenic risk score associated with white matter hyperintensity volume in CADASIL. genome-wide association analysis NONHSAT213362.1 lncRNA Cadasil 0.33 CATGGTCTTA(T > A,C)AAGGGAGTTA chr7: 31584132 0.4868,.,0.5132 0.49996018093781855,0.00011945718654434,0.49992036187563710 Region score:0.42; TSS score:0.41; Unmatched score:0.2; Average GERP:1.1095108910891085 GeneName:ITPRID1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000180347; TranscriptID:ENST00000451887; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000820972; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001175 27328823 mir-4519 rs897984 C N/a 17,008 ad cases and 37,154 controls EFO_0000249 N/A Decreasing risk Alzheimer's disease rs897984-C of mir-4519 and its dysfunction is significantly associated with the decreasing risk of Alzheimer's disease by using case-control analysis in 17,008 AD cases and 37,154 controls. 0.4 Genome-wide identification of microRNA-related variants associated with risk of Alzheimer's disease. case-control analysis hsa-mir-4519 miRNA Alzheimers disease 0.33 ACTGCTGAGG(T > C)TGCCCGAGGT chr16: 30875322 0.5425,0.4575 0.51220852446483180,0.48779147553516819 Region score:0.51; TSS score:0.34; Unmatched score:0.78; Average GERP:-1.4087405940594058 GeneName:AC135048.2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000262721; TranscriptID:ENST00000572471; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:BCL7C; CADD-Score:2; Consquence:intron; GeneID:ENSG00000099385; TranscriptID:ENST00000380317; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR4519; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000265991; TranscriptID:ENST00000579767; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR762HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000260083; TranscriptID:ENST00000570025; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000085261; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001176 26741287 NONHSAT197755.1 rs1157705 ? N/A 528 sereer ancestry individuals from 130 families EFO_0007810 N/A Associate Igg1 response to plasmodium falciparum antigen (glurp) rs1157705-? of NONHSAT197755.1 is significantly associated with the igg1 response to plasmodium falciparum antigen (glurp) by using GWAS analysis in 528 sereer ancestry individuals from 130 families(p-value = 9E-6 ;OR = 4.433). 0.4 Genome-wide association study of antibody responses to Plasmodium falciparum candidate vaccine antigens. genome-wide association analysis NONHSAT197755.1 lncRNA Plasmodium falciparum antigen igg1 measurement 0.33 ATGAAGGCAG(T > C)ATATGCACAT chr3: 161834016 0.4563,0.5437 0.52543641692150866,0.47456358307849133 Region score:0.3; TSS score:0.27; Unmatched score:0.05; Average GERP:-0.3877247524752475 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001177 18821565 NONHSAT180624.1 rs260461 ? N/A 930 european ancestry trios EFO_0003888 N/A Associate Attention deficit hyperactivity disorder rs260461-? of NONHSAT180624.1 is significantly associated with the attention deficit hyperactivity disorder by using GWAS analysis in 930 european ancestry trios(p-value = 8E-6 ;OR = ?). 0.4 Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations. genome-wide association analysis NONHSAT180624.1 lncRNA Attention deficit hyperactivity disorder 0.33 CAATGTCACT(G > A)GATCAAAATC chr19: 58259517 0.724,0.276 0.80866940621814475,0.19133059378185524 Region score:0.37; TSS score:0.22; Unmatched score:0.3; Average GERP:-0.41562891089108916 GeneName:AC020915.3; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000268516; TranscriptID:ENST00000597230; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.6608; mirSVR-E:-15.30 | GeneName:AC020915.5; CADD-Score:2; Consquence:intron,NMD; GeneID:ENSG00000283515; TranscriptID:ENST00000637233; AnnoType:INTRONIC; mirSVR-Score:-0.6608; mirSVR-E:-15.30 | GeneName:ZNF544; CADD-Score:2; Consquence:intron; GeneID:ENSG00000198131; TranscriptID:ENST00000269829; AnnoType:INTRONIC; mirSVR-Score:-0.6608; mirSVR-E:-15.30 | NCRV0000001178 26634245 NONHSAT153280.1 rs7542813 A N/A 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases EFO_0003892 N/A Associate Post bronchodilator fev1 in copd rs7542813-A of NONHSAT153280.1 is significantly associated with the post bronchodilator fev1 in copd by using GWAS analysis in 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases(p-value = 2E-6 ;OR = 0.971). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT153280.1 lncRNA Pulmonary function measurement 0.33 GTGGCGCGAA(A > C,G)CGGGGACAGG chr1: 244970237 N/A 0 Region score:0.32; TSS score:0.35; Unmatched score:0.94; Average GERP:-1.120897916666666 GeneName:AL356512.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000272195; TranscriptID:ENST00000607453; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:EFCAB2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000203666; TranscriptID:ENST00000366523; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000022966; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001179 24475105 miR-101 rs462480 C recessive 1064 breast cancer cases and 1073 cancer-free controls EFO_0000305 N/A increasing risk breast carcinoma rs462480-C of hsa-mir-101-1 and its dysfunction is significantly associated with the increasing risk of Breast carcinoma by using case-control analysis in 1064 breast cancer cases and 1073 cancer-free controls 0.4 Genetic variations in the flanking regions of miR-101-2 are associated with increased risk of breast cancer. case-control analysis hsa-mir-101-1 miRNA Breast carcinoma 0.33 GGGCCATGGC(G > A,T)TTGGGGGCAT chr9: 4850436 0.4451,.,0.5549 0.42193871049949031,0.00000796381243628,0.57805332568807339 Region score:0.25; TSS score:0.15; Unmatched score:0.46; Average GERP:-1.2863534653465343 GeneName:AL158147.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000228165; TranscriptID:ENST00000443970; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR101-2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000199065; TranscriptID:ENST00000362195; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RCL1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000120158; TranscriptID:ENST00000381750; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001180 27863252 NONHSAT221416.1 rs149037075 T N/A 172,433 european ancestry individuals EFO_0004526 N/A Associate Mean corpuscular volume rs149037075-T of NONHSAT221416.1 is significantly associated with the mean corpuscular volume by using GWAS analysis in 172,433 european ancestry individuals(p-value = 3E-51 ;OR = 0.1105021). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT221416.1 lncRNA Mean corpuscular volume 0.33 GTGTGTGTCT(TTCTG > T)TCTGTGTGTG chr9: 133255468 0.8484,0.1516 0.89506880733944954,0.10493119266055045 N/A GeneName:ABO; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000175164; TranscriptID:ENST00000538324; AnnoType:DOWNSTREAM; mirSVR-Score:-0.3983; mirSVR-E:-14.96 | NCRV0000001181 26178671 let-7 rs12976445 T N/a 503 metabolic syndrome patients and 529 normal controls in a chinese population EFO_0000195 N/A No significance for risk Metabolic syndrome rs12976445-T of let-7 and its dysfunction is not significantly associated with metabolic syndrome by using case-control analysis in 503 metabolic syndrome patients and 529 normal controls in a Chinese population. -0.4 Let-7 related genetic variation and risk of metabolic syndrome in a Chinese population. case-control analysis hsa-let-7a-1 miRNA Metabolic syndrome -0.33 TCTCTGTGCC(T > C)ATCTCCATCT chr19: 51693200 0.4349,0.5651 0.53015099388379204,0.46984900611620795 Region score:0.17; TSS score:0.49; Unmatched score:0.61; Average GERP:-0.9224930693069308 GeneName:MIR125A; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000208008; TranscriptID:ENST00000385273; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR99B; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207550; TranscriptID:ENST00000384819; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIRLET7E; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000198972; TranscriptID:ENST00000362102; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SPACA6; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000182310; TranscriptID:ENST00000637797; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SPACA6P-AS; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000269959; TranscriptID:ENST00000602324; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001182 24376456 NONHSAT214711.1 rs11766519 C N/A up to 6,882 individuals EFO_0005763 N/A Associate Pulse pressure (alcohol consumption interaction) rs11766519-C of NONHSAT214711.1 is significantly associated with the pulse pressure (alcohol consumption interaction) by using GWAS analysis in up to 6,882 individuals(p-value = 1E-7 ;OR = 0.102). 0.4 Gene-alcohol interactions identify several novel blood pressure loci including a promising locus near SLC16A9. genome-wide association analysis NONHSAT214711.1 lncRNA Pulse pressure measurement 0.33 GGGCTGCTGA(T > C)TGCTGGCAGC chr7: 57524150 0.9311,0.06889 0.87711041029561671,0.12288958970438328 Region score:0.35; TSS score:0.28; Unmatched score:0.12; Average GERP:0.9165405940594052 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001183 27863252 NONHSAT180720.1 rs11086102 C N/A 170,494 european ancestry individuals EFO_0007989 N/A Associate Monocyte percentage of white cells rs11086102-C of NONHSAT180720.1 is significantly associated with the monocyte percentage of white cells by using GWAS analysis in 170,494 european ancestry individuals(p-value = 1E-26 ;OR = 0.03966003). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT180720.1 lncRNA Monocypte percentage of leukocytes 0.33 CAAAAATCAC(G > C)TTGATAAATC chr19: 18287818 0.3091,0.6909 0.35284467380224260,0.64715532619775739 Region score:0.42; TSS score:0.41; Unmatched score:0.45; Average GERP:0.3769940594059408 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000586481; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000586483; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RPL39P38; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000241464; TranscriptID:ENST00000467018; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001184 19430479 NONHSAT189066.1 rs16982520 A N/A 29,136 european ancestry individuals; 34,433 european ancestry individuals EFO_0000537 N/A Associate Hypertension rs16982520-A of NONHSAT189066.1 is significantly associated with the hypertension by using GWAS analysis in 29,136 european ancestry individuals; 34,433 european ancestry individuals(p-value = 2E-7 ;OR = 0.13). 0.4 Genome-wide association study of blood pressure and hypertension. genome-wide association analysis NONHSAT189066.1 lncRNA Hypertension 0.33 TTCTTGGCTG(A > G)TGAGGATAAC chr20: 59183665 0.9087,0.09125 0.87382931957186544,0.12617068042813455 Region score:0.27; TSS score:0.21; Unmatched score:0.04; Average GERP:-0.3564821782178219 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000656354; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ZNF831; CADD-Score:2; Consquence:intron; GeneID:ENSG00000124203; TranscriptID:ENST00000637017; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001185 17900631 miR-106b rs1527423 G Dominant 96 HCC tissues EFO_0000182 N/A no significance for risk hepatocellular carcinoma rs1527423-G of hsa-mir-106b and its dysfunction is not significantly associated with Hepatocellular carcinoma by using analysis of sequence variation in 96 HCC tissues -0.4 Analysis of sequence variations in 59 microRNAs in hepatocellular carcinomas. analysis of sequence variation hsa-mir-106b miRNA Hepatocellular carcinoma -0.33 AGCACGGTAA(G > A)GAGCTACCCC chr7: 100094117 0.4631,0.5369 0.52430555555555555,0.47569444444444444 Region score:0.35; TSS score:0.19; Unmatched score:0.53; Average GERP:-1.6067405940594062 GeneName:COPS6; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000168090; TranscriptID:ENST00000303904; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MCM7; CADD-Score:2; Consquence:intron; GeneID:ENSG00000166508; TranscriptID:ENST00000303887; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR106B; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000208036; TranscriptID:ENST00000385301; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR25; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207547; TranscriptID:ENST00000384816; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR93; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207757; TranscriptID:ENST00000385024; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001186 27863252 NONHSAT192373.1 rs713909 C N/A 171,643 european ancestry individuals EFO_0004587 N/A Associate Lymphocyte counts rs713909-C of NONHSAT192373.1 is significantly associated with the lymphocyte counts by using GWAS analysis in 171,643 european ancestry individuals(p-value = 2E-16 ;OR = 0.02985506). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT192373.1 lncRNA Lymphocyte count 0.33 AGACACTGTG(G > A,C,T)CTTCTTCCCT chr22: 39136415 0.633,.,0.367,. 0.58031504841997961,0.00000796381243628,0.41966902395514780,0.00000796381243628 Region score:0.14; TSS score:0.13; Unmatched score:0.17; Average GERP:-0.5798333663366336 GeneName:AL031846.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000279833; TranscriptID:ENST00000624656; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CBX7; CADD-Score:2; Consquence:intron; GeneID:ENSG00000100307; TranscriptID:ENST00000216133; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001187 28240269 NONHSAT192274.1 rs241890 T N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0008231 N/A Associate Blood protein levels rs241890-T of NONHSAT192274.1 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 3E-20 ;OR = 0.4995). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. genome-wide association analysis NONHSAT192274.1 lncRNA Metalloproteinase inhibitor 3 measurement 0.33 TTGTTTGGCT(G > T)GTCTTAGTAG chr22: 32846175 0.6633,0.3367 0.74306351936799184,0.25693648063200815 Region score:0.25; TSS score:0.12; Unmatched score:0.11; Average GERP:-0.5213000000000001 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000670492; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SYN3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000185666; TranscriptID:ENST00000358763; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TIMP3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000100234; TranscriptID:ENST00000266085; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001188 23738518 NONHSAT213941.1 rs7802263 ? N/A 6,649 european ancestry children and adolescents EFO_0005301 N/A Associate Reading and spelling rs7802263-? of NONHSAT213941.1 is significantly associated with the reading and spelling by using GWAS analysis in 6,649 european ancestry children and adolescents(p-value = 8E-6 ;OR = ?). 0.4 A genome-wide association study for reading and language abilities in two population cohorts. genome-wide association analysis NONHSAT213941.1 lncRNA Reading and spelling ability 0.33 TGCAGAGCTG(G > T)GATACTATTT chr7: 124744273 0.256,0.744 0.29693074668705402,0.70306925331294597 Region score:0.22; TSS score:0.33; Unmatched score:0.19; Average GERP:-0.33903960396039584 GeneName:AC004925.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000279419; TranscriptID:ENST00000624256; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GPR37; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000170775; TranscriptID:ENST00000303921; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001189 27863252 NONHSAT017523.2 rs231353 G N/A 164,339 european ancestry individuals EFO_0007985 N/A Associate Plateletcrit rs231353-G of NONHSAT017523.2 is significantly associated with the plateletcrit by using GWAS analysis in 164,339 european ancestry individuals(p-value = 2E-9 ;OR = 0.02308014). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT017523.2 lncRNA Plateletcrit 0.33 CACACCCCTA(A > G)GCCACCCAGC chr11: 2687789 0.4127,0.5873 0.52128727064220183,0.47871272935779816 Region score:0.36; TSS score:0.24; Unmatched score:0.38; Average GERP:-0.48284950495049483 GeneName:KCNQ1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000053918; TranscriptID:ENST00000155840; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:KCNQ1OT1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000269821; TranscriptID:ENST00000597346; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001190 17463249 NONHSAT130429.2 rs564398 T N/A 1,924 european ancestry cases//2,938 european ancestry controls; 3,757 european ancestry cases//5,346 european ancestry controls EFO_0001360 N/A Associate Type 2 diabetes rs564398-T of NONHSAT130429.2 is significantly associated with the type 2 diabetes by using GWAS analysis in 1,924 european ancestry cases//2,938 european ancestry controls; 3,757 european ancestry cases//5,346 european ancestry controls(p-value = 1E-6 ;OR = 1.13). 0.4 Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes. genome-wide association analysis NONHSAT130429.2 lncRNA Type ii diabetes mellitus 0.33 ACTTTCTTTG(T > C)GGTAGTTAGG chr9: 22029548 0.8151,0.1849 0.73476522680937818,0.26523477319062181 Region score:0.37; TSS score:0.42; Unmatched score:0.67; Average GERP:-0.7604673267326729 GeneName:AL359922.1; CADD-Score:2; Consquence:NMD,3_prime_UTR; GeneID:ENSG00000264545; TranscriptID:ENST00000404796; AnnoType:3PRIME_UTR; mirSVR-Score:-0.0149; mirSVR-E:-16.38 | GeneName:CDKN2B-AS1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000240498; TranscriptID:ENST00000428597; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0149; mirSVR-E:-16.38 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000877576; AnnoType:REGULATORY; mirSVR-Score:-0.0149; mirSVR-E:-16.38 | NCRV0000001191 28240269 NONHSAT083187.2 rs3827278 A N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0008175 N/A Associate Blood protein levels rs3827278-A of NONHSAT083187.2 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 2E-93 ;OR = 0.975). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. genome-wide association analysis NONHSAT083187.2 lncRNA Interleukin 17 receptor a measurement 0.33 CAGACTCAGG(C > A)AAGGCCTAGG chr22: 17115025 0.8285,0.1715 0.81660136340468909,0.18339863659531090 Region score:0.28; TSS score:0.77; Unmatched score:0.7; Average GERP:-1.1680752475247522 GeneName:IL17RA; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000177663; TranscriptID:ENST00000319363; AnnoType:3PRIME_UTR; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TMEM121B; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000183307; TranscriptID:ENST00000331437; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001192 23065742 TCONS_00021856 rs7990916 C N/a Bigger regional gray matter volume EFO_0000249 N/A Increasing risk Alzheimer disease rs7990916-C of TCONS_00021856 and its dysfunction is significantly associated with the increasing risk of Alzheimer Disease by using genome-wide association analysis in bigger regional gray matter volume. By using the disease cell lines or tissues, the mutation of TCONS_00021856 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 Genome-wide analysis of human SNPs at long intergenic noncoding RNAs. genome-wide association analysis; Function TCONS_00021856 lncRNA Alzheimers disease 0.593 TTCATTCTTA(T > A,C)CAAGTTGACA chr13: 80065389 0.2804,.,0.7196 0.33645514780835881,0.00190335117227319,0.66164150101936799 Region score:0.33; TSS score:0.04; Unmatched score:0.01; Average GERP:0.1519261386138614 GeneName:AL158064.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000284196; TranscriptID:ENST00000640346; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001193 26819262 NONHSAT196968.1 rs669607 A N/A 3,599 individuals//1,956 mexican american individuals//5,545 european ancestry multiple sclerosis cases//12,153 european ancestry non-multiple sclerosis controls; EFO_0003885 N/A Associate Epstein barr virus nuclear antigen 1 igg levels or multiple sclerosis rs669607-A of NONHSAT196968.1 is significantly associated with the epstein barr virus nuclear antigen 1 igg levels or multiple sclerosis by using GWAS analysis in 3,599 individuals//1,956 mexican american individuals//5,545 european ancestry multiple sclerosis cases//12,153 european ancestry non-multiple sclerosis controls; (p-value = 4E-9 ;OR = ?). 0.4 Genetic loci for Epstein-Barr virus nuclear antigen-1 are associated with risk of multiple sclerosis. genome-wide association analysis NONHSAT196968.1 lncRNA Multiple sclerosis 0.451 TGCATTCCCA(A > C)ATCTTCCTCC chr3: 28029953 0.6422,0.3578 0.62820145259938837,0.37179854740061162 Region score:0.48; TSS score:0.48; Unmatched score:0.56; Average GERP:-0.5745000000000002 GeneName:LINC01967; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000235493; TranscriptID:ENST00000356047; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000680928; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001193 21833088 NONHSAT196968.1 rs669607 C N/A 9,772 european ancestry cases//16,849 european ancestry controls; 4,218 european ancestry cases//7,296 european ancestry controls EFO_0003885 N/A Associate Multiple sclerosis rs669607-C of NONHSAT196968.1 is significantly associated with the multiple sclerosis by using GWAS analysis in 9,772 european ancestry cases//16,849 european ancestry controls; 4,218 european ancestry cases//7,296 european ancestry controls(p-value = 2E-15 ;OR = 1.13). 0.4 Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. genome-wide association analysis NONHSAT196968.1 lncRNA Multiple sclerosis 0.451 TGCATTCCCA(A > C)ATCTTCCTCC chr3: 28029953 0.6422,0.3578 0.62820145259938837,0.37179854740061162 Region score:0.48; TSS score:0.48; Unmatched score:0.56; Average GERP:-0.5745000000000002 GeneName:LINC01967; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000235493; TranscriptID:ENST00000356047; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000680928; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001194 25574825 NONHSAT189171.1 rs909341 G N/A 2,079 european ancestry cases//3,867 european ancestry controls EFO_0000274 N/A Associate Atopic dermatitis rs909341-G of NONHSAT189171.1 is significantly associated with the atopic dermatitis by using GWAS analysis in 2,079 european ancestry cases//3,867 european ancestry controls(p-value = 8E-10 ;OR = 1.316). 0.4 Genome-wide comparative analysis of atopic dermatitis and psoriasis gives insight into opposing genetic mechanisms. genome-wide association analysis NONHSAT189171.1 lncRNA Atopic eczema 0.33 CAGCCAGCAG(C > T)TCCAGCTCAG chr20: 63697389 0.7382,0.2618 0.78951643730886850,0.21048356269113149 Region score:0.37; TSS score:0.41; Unmatched score:0.83; Average GERP:1.8402342574257424 GeneName:ARFRP1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000101246; TranscriptID:ENST00000622789; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000657797; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000657798; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RTEL1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000258366; TranscriptID:ENST00000360203; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RTEL1-TNFRSF6B; CADD-Score:2; Consquence:NMD,3_prime_UTR; GeneID:ENSG00000026036; TranscriptID:ENST00000492259; AnnoType:3PRIME_UTR; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TNFRSF6B; CADD-Score:5; Consquence:synonymous; GeneID:ENSG00000243509; TranscriptID:ENST00000369996; AnnoType:SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001195 21909106 NONHSAT216850.1 rs13278062 T N/A 827 japanese ancestry cases//3,323 japanese ancestry controls; 709 japanese ancestry cases//15,571 japanese ancestry controls EFO_0001365 N/A Associate Age-related macular degeneration rs13278062-T of NONHSAT216850.1 is significantly associated with the age-related macular degeneration by using GWAS analysis in 827 japanese ancestry cases//3,323 japanese ancestry controls; 709 japanese ancestry cases//15,571 japanese ancestry controls(p-value = 1E-12 ;OR = 1.37). 0.4 Genome-wide association study identifies two susceptibility loci for exudative age-related macular degeneration in the Japanese population. genome-wide association analysis NONHSAT216850.1 lncRNA Age-related macular degeneration 0.451 CGTCACTACC(G > A,C,T)GGCGAGTGAT chr8: 23225458 0.5992,.,.,0.4008 0.59008664627930682,0.00003981906218144,0.00001592762487257,0.40985760703363914 N/A GeneName:AC100861.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000246582; TranscriptID:ENST00000500853; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0510; mirSVR-E:-11.22 | GeneName:AC100861.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000250714; TranscriptID:ENST00000511929; AnnoType:INTRONIC; mirSVR-Score:-0.0510; mirSVR-E:-11.22 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000849989; AnnoType:REGULATORY; mirSVR-Score:-0.0510; mirSVR-E:-11.22 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000849991; AnnoType:REGULATORY; mirSVR-Score:-0.0510; mirSVR-E:-11.22 | GeneName:TNFRSF10A; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000104689; TranscriptID:ENST00000221132; AnnoType:UPSTREAM; mirSVR-Score:-0.0510; mirSVR-E:-11.22 | NCRV0000001195 23455636 NONHSAT216850.1 rs13278062 T N/A 6,713 european ancestry cases//48,402 european ancestry contols//110 southern indian ancestry cases//119 southern indian ancestry controls//827 japanese ancestry cases//3,323 japanese ancestry controls; 9,070 european ancestry cases//7,683 european ancestry contols//461 east asian ancestry cases//547 east asian ancestry controls EFO_0001365 N/A Associate Age-related macular degeneration rs13278062-T of NONHSAT216850.1 is significantly associated with the age-related macular degeneration by using GWAS analysis in 6,713 european ancestry cases//48,402 european ancestry contols//110 southern indian ancestry cases//119 southern indian ancestry controls//827 japanese ancestry cases//3,323 japanese ancestry controls; 9,070 european ancestry cases//7,683 european ancestry contols//461 east asian ancestry cases//547 east asian ancestry controls(p-value = 3E-15 ;OR = 1.15). 0.4 Seven new loci associated with age-related macular degeneration. genome-wide association analysis NONHSAT216850.1 lncRNA Age-related macular degeneration 0.451 CGTCACTACC(G > A,C,T)GGCGAGTGAT chr8: 23225458 0.5992,.,.,0.4008 0.59008664627930682,0.00003981906218144,0.00001592762487257,0.40985760703363914 N/A GeneName:AC100861.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000246582; TranscriptID:ENST00000500853; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0510; mirSVR-E:-11.22 | GeneName:AC100861.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000250714; TranscriptID:ENST00000511929; AnnoType:INTRONIC; mirSVR-Score:-0.0510; mirSVR-E:-11.22 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000849989; AnnoType:REGULATORY; mirSVR-Score:-0.0510; mirSVR-E:-11.22 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000849991; AnnoType:REGULATORY; mirSVR-Score:-0.0510; mirSVR-E:-11.22 | GeneName:TNFRSF10A; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000104689; TranscriptID:ENST00000221132; AnnoType:UPSTREAM; mirSVR-Score:-0.0510; mirSVR-E:-11.22 | NCRV0000001196 28394258 NONHSAT007202.2 rs953301 A N/A 30,201 european ancestry individuals EFO_0003777 N/A Associate Left atrial antero-posterior diameter rs953301-A of NONHSAT007202.2 is significantly associated with the left atrial antero-posterior diameter by using GWAS analysis in 30,201 european ancestry individuals(p-value = 8E-6 ;OR = 0.0464). 0.4 Large-scale genome-wide analysis identifies genetic variants associated with cardiac structure and function. genome-wide association analysis NONHSAT007202.2 lncRNA Heart disease 0.33 CATCAACTTT(G > A)GGGGTAGGGG chr1: 161749589 0.8682,0.1318 0.88283639143730886,0.11716360856269113 Region score:0.33; TSS score:0.55; Unmatched score:0.87; Average GERP:-0.9933009900990099 GeneName:DUSP12; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000081721; TranscriptID:ENST00000367943; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000375177; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000375179; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001197 26634245 NONHSAT162111.1 rs11183289 T N/A 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases EFO_0003892 N/A Associate Post bronchodilator fev1 in copd rs11183289-T of NONHSAT162111.1 is significantly associated with the post bronchodilator fev1 in copd by using GWAS analysis in 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases(p-value = 2E-6 ;OR = 0.142). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT162111.1 lncRNA Pulmonary function measurement 0.33 TTATATATTC(C > T)CATTTCATTA chr12: 46027966 0.7332,0.2668 0.73960722477064220,0.26039277522935779 Region score:0.4; TSS score:0.15; Unmatched score:0.1; Average GERP:0.11359405940594032 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001198 24823311 NONHSAT217855.1 rs10097215 T N/A 8,631 european ancestry individuals EFO_0000319 N/A Associate Plasma omega-6 polyunsaturated fatty acid levels (gamma-linolenic acid) rs10097215-T of NONHSAT217855.1 is significantly associated with the plasma omega-6 polyunsaturated fatty acid levels (gamma-linolenic acid) by using GWAS analysis in 8,631 european ancestry individuals(p-value = 2E-6 ;OR = 0.01). 0.4 Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium. genome-wide association analysis NONHSAT217855.1 lncRNA Cardiovascular disease 0.33 CAGGAAAGAG(C > T)GAGAATTAAA chr8: 2649382 0.8692,0.1308 0.88248598369011213,0.11751401630988786 Region score:0.37; TSS score:0.16; Unmatched score:0.03; Average GERP:-0.2992099009900989 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001199 22158540 NONHSAT221561.1 rs10974531 A N/A 981 han chinese ancestry cases//1,991 han chinese ancestry controls; 2,603 han chinese ancestry cases//2,877 han chinese ancestry controls EFO_0002618 N/A Associate Pancreatic cancer rs10974531-A of NONHSAT221561.1 is significantly associated with the pancreatic cancer by using GWAS analysis in 981 han chinese ancestry cases//1,991 han chinese ancestry controls; 2,603 han chinese ancestry cases//2,877 han chinese ancestry controls(p-value = 5E-6 ;OR = 1.24). 0.4 Genome-wide association study identifies five loci associated with susceptibility to pancreatic cancer in Chinese populations. genome-wide association analysis NONHSAT221561.1 lncRNA Pancreatic cancer 0.33 AACATATCAC(C > A)ATCCATCATG chr9: 4426631 0.8089,0.1911 0.77245795107033639,0.22754204892966360 Region score:0.32; TSS score:0.3; Unmatched score:0.17; Average GERP:-0.011767326732673238 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001200 24165912 NONHSAT217864.1 rs2627282 A N/A 1,840 han chinese ancestry individuals; 659 han chinese ancestry individuals EFO_0006340 N/A Associate Blood pressure measurement (high sodium intervention) rs2627282-A of NONHSAT217864.1 is significantly associated with the blood pressure measurement (high sodium intervention) by using GWAS analysis in 1,840 han chinese ancestry individuals; 659 han chinese ancestry individuals(p-value = 3E-7 ;OR = 2.33). 0.4 Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese. genome-wide association analysis NONHSAT217864.1 lncRNA Mean arterial pressure 0.33 ATAAAGCTCT(G > A)TATTACAATT chr8: 2923434 0.8642,0.1358 0.76897776503567787,0.23102223496432212 Region score:0.27; TSS score:0.13; Unmatched score:0.05; Average GERP:-0.9995554455445543 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001201 24665060 NONHSAT154340.1 rs953554 ? N/A 754 bangladeshi ancestry never smoker males//2,565 bangladeshi ancestry never smoker females//1,837 bangladeshi ancestry ever smoker males//198 bangladeshi ancestry ever smoker females EFO_0005670 N/A Associate Smoking initiation rs953554-? of NONHSAT154340.1 is significantly associated with the smoking initiation by using GWAS analysis in 754 bangladeshi ancestry never smoker males//2,565 bangladeshi ancestry never smoker females//1,837 bangladeshi ancestry ever smoker males//198 bangladeshi ancestry ever smoker females(p-value = 6E-6 ;OR = ?). 0.4 Genome-wide association study of smoking behaviours among Bangladeshi adults. genome-wide association analysis NONHSAT154340.1 lncRNA Smoking initiation 0.33 TTTGCTCTTA(T > C)TGGTGCCAGT chr1: 187692398 0.7672,0.2328 0.66141055045871559,0.33858944954128440 Region score:0.27; TSS score:0.3; Unmatched score:0.15; Average GERP:-0.5235920792079207 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001202 29059683 NONHSAT159884.1 rs11822830 G N/A 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls EFO_0000305 N/A Associate Breast cancer rs11822830-G of NONHSAT159884.1 is significantly associated with the breast cancer by using GWAS analysis in 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls(p-value = 2E-14 ;OR = 0.0483). 0.4 Association analysis identifies 65 new breast cancer risk loci. genome-wide association analysis NONHSAT159884.1 lncRNA Breast cancer 0.33 GGCACTAGAT(A > G)TAACCCCATT chr11: 129591121 0.3564,0.6436 0.34476936799184505,0.65523063200815494 Region score:0.19; TSS score:0.26; Unmatched score:0.09; Average GERP:-1.1131029702970303 GeneName:AP003500.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000281386; TranscriptID:ENST00000626400; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000446519; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001203 23092984 NONHSAT192163.1 rs1930961 ? N/A 2,196 european and other ancestry cases//8,148 european and other ancestry controls EFO_0000289 N/A Associate Bipolar disorder with mood-incongruent psychosis rs1930961-? of NONHSAT192163.1 is significantly associated with the bipolar disorder with mood-incongruent psychosis by using GWAS analysis in 2,196 european and other ancestry cases//8,148 european and other ancestry controls(p-value = 9E-6 ;OR = 1.39). 0.4 Genome-wide association of mood-incongruent psychotic bipolar disorder. genome-wide association analysis NONHSAT192163.1 lncRNA Bipolar disorder 0.33 TATCACATCC(T > C)TGGATCACAG chr22: 25479298 0.7394,0.2606 0.76419151376146788,0.23580848623853211 Region score:0.4; TSS score:0.16; Unmatched score:0.11; Average GERP:-0.18990693069306933 GeneName:AL008721.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000272977; TranscriptID:ENST00000609475; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CRYBB2P1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000100058; TranscriptID:ENST00000354451; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001204 28139693 NONHSAT172587.1 rs9921192 C N/A 28,503 european ancestry individuals; 2,716 latino individuals//2,518 east asian ancestry individuals//1,585 african american individuals//6,193 european ancestry individuals (later diagnosed with prostate cancer)//5,603 european ancestry individuals EFO_0001663 N/A Associate Prostate-specific antigen levels rs9921192-C of NONHSAT172587.1 is significantly associated with the prostate-specific antigen levels by using GWAS analysis in 28,503 european ancestry individuals; 2,716 latino individuals//2,518 east asian ancestry individuals//1,585 african american individuals//6,193 european ancestry individuals (later diagnosed with prostate cancer)//5,603 european ancestry individuals(p-value = 1E-9 ;OR = 0.0350975). 0.4 Genome-wide association study of prostate-specific antigen levels identifies novel loci independent of prostate cancer. genome-wide association analysis NONHSAT172587.1 lncRNA Prostate cancer 0.33 CTCACCCCCC(T > A,C,G)CAAAGCAGTT chr16: 4299110 N/A 0.42791156982670744,0.06477765035677879,0.50727096075433231,0.00003981906218144 Region score:0.38; TSS score:0.5; Unmatched score:0.4; Average GERP:-0.3194790099009898 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000529599; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001205 29235454 NONHSAT106513.2 rs2745572 ? N/A 56,819 european ancestry individuals//5,748 hispanic/latino individuals//5,119 east asian ancestry individuals//2,070 african american individuals; 37,930 european and asian ancestry individuals EFO_0004695 N/A Associate Intraocular pressure rs2745572-? of NONHSAT106513.2 is significantly associated with the intraocular pressure by using GWAS analysis in 56,819 european ancestry individuals//5,748 hispanic/latino individuals//5,119 east asian ancestry individuals//2,070 african american individuals; 37,930 european and asian ancestry individuals(p-value = 4E-17 ;OR = 0.11). 0.4 A large multi-ethnic genome-wide association study identifies novel genetic loci for intraocular pressure. genome-wide association analysis NONHSAT106513.2 lncRNA Intraocular pressure measurement 0.33 AAACCATTTA(A > G)TATCCTGAAA chr6: 1548134 0.6408,0.3592 0.68940335117227319,0.31059664882772680 Region score:0.29; TSS score:0.12; Unmatched score:0.05; Average GERP:0.09957841584158411 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001206 23049088 NONHSAT157521.1 rs1472750 ? N/A 187 european ancestry cases//1064 european ancestry controls; EFO_0004207 N/A Associate Myopia (pathological) rs1472750-? of NONHSAT157521.1 is significantly associated with the myopia (pathological) by using GWAS analysis in 187 european ancestry cases//1064 european ancestry controls; (p-value = 5E-9 ;OR = ?). 0.4 A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population. genome-wide association analysis NONHSAT157521.1 lncRNA Pathological myopia 0.33 GTTGTGTTCA(T > C)GTTTACATGA chr10: 113475355 0.06969,0.9303 0.07810110856269113,0.92189889143730886 Region score:0.42; TSS score:0.43; Unmatched score:0.22; Average GERP:-0.42918811881188124 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000416194; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000416196; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001207 30219045 H19 rs217727 T N/A 556 female never smoking lung cancer patients and 395 cancer-free controls EFO_0001071 N/A no significance for risk lung carcinoma rs217727-T of H19 and its dysfunction is not significantly associated with Lung carcinoma by using case-control analysis in 556 female never smoking lung cancer patients and 395 cancer-free controls -0.4 Polymorphisms in the H19 gene and the risk of lung Cancer among female never smokers in Shenyang, China. case-control analysis H19 lncRNA Lung carcinoma -0.33 TCAACCGTCC(G > A)CCGCAGGGGG chr11: 1995678 0.7979,0.2021 1 Region score:0.7; TSS score:0.82; Unmatched score:0.94; Average GERP:-0.47433900495049497 GeneName:H19; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000130600; TranscriptID:ENST00000414790; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.5598; mirSVR-E:-26.23 | GeneName:LINC01219; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000232987; TranscriptID:ENST00000418612; AnnoType:DOWNSTREAM; mirSVR-Score:-0.5598; mirSVR-E:-26.23 | GeneName:MIR675; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000284010; TranscriptID:ENST00000390168; AnnoType:DOWNSTREAM; mirSVR-Score:-0.5598; mirSVR-E:-26.23 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000035875; AnnoType:REGULATORY; mirSVR-Score:-0.5598; mirSVR-E:-26.23 | GeneName:RF01972; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000275266; TranscriptID:ENST00000617997; AnnoType:UPSTREAM; mirSVR-Score:-0.5598; mirSVR-E:-26.23 | GeneName:RF01973; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000274866; TranscriptID:ENST00000620857; AnnoType:UPSTREAM; mirSVR-Score:-0.5598; mirSVR-E:-26.23 | NCRV0000001208 27863252 NONHSAT056521.2 rs3208787 G N/A 172,952 european ancestry individuals EFO_0004305 N/A Associate Red blood cell count rs3208787-G of NONHSAT056521.2 is significantly associated with the red blood cell count by using GWAS analysis in 172,952 european ancestry individuals(p-value = 1E-9 ;OR = 0.02899962). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT056521.2 lncRNA Erythrocyte count 0.33 GATAACTGTT(A > G)TTATAACCAA chr17: 81558634 0.7019,0.2981 0.74549248216106014,0.25450751783893985 Region score:0.48; TSS score:0.57; Unmatched score:0.6; Average GERP:1.14019900990099 GeneName:FAAP100; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000185504; TranscriptID:ENST00000536161; AnnoType:UPSTREAM; mirSVR-Score:-0.0344; mirSVR-E:-10.23 | GeneName:NPLOC4; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000182446; TranscriptID:ENST00000331134; AnnoType:3PRIME_UTR; mirSVR-Score:-0.0344; mirSVR-E:-10.23 | NCRV0000001209 28644415 NONHSAT153820.1 rs1327609 ? N/A 141 individuals EFO_0008111 N/A Associate Prudent dietary pattern rs1327609-? of NONHSAT153820.1 is significantly associated with the prudent dietary pattern by using GWAS analysis in 141 individuals(p-value = 5E-6 ;OR = ?). 0.4 Genome-Wide Association Study of Dietary Pattern Scores.LID - E649 [pii]LID - 10.3390/nu9070649 [doi]AB - Dietary patterns, representing global food supplies rather than specific nutrients or food intakes, have been associated with cardiovascul genome-wide association analysis NONHSAT153820.1 lncRNA Diet measurement 0.33 TTAAATTCCC(C > T)CCATCATATA chr1: 81289759 0.6492,0.3508 0.59895833333333333,0.40104166666666666 Region score:0.22; TSS score:0.19; Unmatched score:0.03; Average GERP:-0.5539434653465347 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001210 21242260 NONHSAT216396.1 rs6983267 G N/A 1,583 japanese ancestry cases//1,898 japanese ancestry controls; 4,584 japanese ancestry cases//225 korean ancestry distal cases//2,973 east asian ancestry controls EFO_0005842 N/A Associate Colorectal cancer rs6983267-G of NONHSAT216396.1 is significantly associated with the colorectal cancer by using GWAS analysis in 1,583 japanese ancestry cases//1,898 japanese ancestry controls; 4,584 japanese ancestry cases//225 korean ancestry distal cases//2,973 east asian ancestry controls(p-value = 2E-8 ;OR = 1.18). 0.4 Common variant in 6q26-q27 is associated with distal colon cancer in an Asian population. genome-wide association analysis NONHSAT216396.1 lncRNA Colorectal cancer 0.663 CAGATGAAAG(G > T)CACTGAGAAA chr8: 127401060 0.6098,0.3902 0.62955530071355759,0.37044469928644240 Region score:0.81; TSS score:0.84; Unmatched score:0.71; Average GERP:4.0005643564356435 GeneName:CASC8; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000246228; TranscriptID:ENST00000502082; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CCAT2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000280997; TranscriptID:ENST00000630920; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000333360; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000869328; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PCAT1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000253438; TranscriptID:ENST00000645215; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:POU5F1B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000212993; TranscriptID:ENST00000645438; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001210 24836286 NONHSAT216396.1 rs6983267 G N/A 2,098 east asian ancestry cases//6,172 east asian ancestry controls; 12,865 east asian ancestry cases//25,773 east asian ancestry controls//up to 16,984 european ancestry cases//up to 18,262 european ancestry controls EFO_0005842 N/A Associate Colorectal cancer rs6983267-G of NONHSAT216396.1 is significantly associated with the colorectal cancer by using GWAS analysis in 2,098 east asian ancestry cases//6,172 east asian ancestry controls; 12,865 east asian ancestry cases//25,773 east asian ancestry controls//up to 16,984 european ancestry cases//up to 18,262 european ancestry controls(p-value = 5E-14 ;OR = 1.14). 0.4 Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk. genome-wide association analysis NONHSAT216396.1 lncRNA Colorectal cancer 0.663 CAGATGAAAG(G > T)CACTGAGAAA chr8: 127401060 0.6098,0.3902 0.62955530071355759,0.37044469928644240 Region score:0.81; TSS score:0.84; Unmatched score:0.71; Average GERP:4.0005643564356435 GeneName:CASC8; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000246228; TranscriptID:ENST00000502082; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CCAT2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000280997; TranscriptID:ENST00000630920; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000333360; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000869328; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PCAT1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000253438; TranscriptID:ENST00000645215; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:POU5F1B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000212993; TranscriptID:ENST00000645438; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001210 18372905 NONHSAT216396.1 rs6983267 ? N/A 922 european ancestry cases//927 european ancestry controls; 17,089 european ancestry cases//16,862 european ancestry controls//783 cases//664 controls EFO_0005842 N/A Associate Colorectal cancer rs6983267-? of NONHSAT216396.1 is significantly associated with the colorectal cancer by using GWAS analysis in 922 european ancestry cases//927 european ancestry controls; 17,089 european ancestry cases//16,862 european ancestry controls//783 cases//664 controls(p-value = 7E-11 ;OR = 1.24). 0.4 A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3. genome-wide association analysis NONHSAT216396.1 lncRNA Colorectal cancer 0.663 CAGATGAAAG(G > T)CACTGAGAAA chr8: 127401060 0.6098,0.3902 0.62955530071355759,0.37044469928644240 Region score:0.81; TSS score:0.84; Unmatched score:0.71; Average GERP:4.0005643564356435 GeneName:CASC8; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000246228; TranscriptID:ENST00000502082; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CCAT2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000280997; TranscriptID:ENST00000630920; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000333360; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000869328; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PCAT1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000253438; TranscriptID:ENST00000645215; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:POU5F1B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000212993; TranscriptID:ENST00000645438; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001210 23266556 NONHSAT216396.1 rs6983267 G N/A 12,696 european ancestry colorectal tumor cases//15,113 european ancestry controls; 958 european ancestry colorectal tumor cases//909 european ancestry controls//up to 2,098 east asian ancestry colorectal tumor cases//up to 5,749 east asian ancestry controls EFO_0005842 N/A Associate Colorectal cancer rs6983267-G of NONHSAT216396.1 is significantly associated with the colorectal cancer by using GWAS analysis in 12,696 european ancestry colorectal tumor cases//15,113 european ancestry controls; 958 european ancestry colorectal tumor cases//909 european ancestry controls//up to 2,098 east asian ancestry colorectal tumor cases//up to 5,749 east asian ancestry controls(p-value = 1E-11 ;OR = 1.13). 0.4 Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis. genome-wide association analysis NONHSAT216396.1 lncRNA Colorectal cancer 0.663 CAGATGAAAG(G > T)CACTGAGAAA chr8: 127401060 0.6098,0.3902 0.62955530071355759,0.37044469928644240 Region score:0.81; TSS score:0.84; Unmatched score:0.71; Average GERP:4.0005643564356435 GeneName:CASC8; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000246228; TranscriptID:ENST00000502082; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CCAT2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000280997; TranscriptID:ENST00000630920; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000333360; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000869328; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PCAT1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000253438; TranscriptID:ENST00000645215; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:POU5F1B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000212993; TranscriptID:ENST00000645438; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001210 17618284 NONHSAT216396.1 rs6983267 G N/A 930 european ancestry cases//960 european ancestry controls; 7,334 european ancestry cases//5,246 european ancestry controls EFO_0005842 N/A Associate Colorectal cancer rs6983267-G of NONHSAT216396.1 is significantly associated with the colorectal cancer by using GWAS analysis in 930 european ancestry cases//960 european ancestry controls; 7,334 european ancestry cases//5,246 european ancestry controls(p-value = 1E-14 ;OR = 1.27). 0.4 A genome-wide association scan of tag SNPs identifies a susceptibility variant for colorectal cancer at 8q24.21. genome-wide association analysis NONHSAT216396.1 lncRNA Colorectal cancer 0.663 CAGATGAAAG(G > T)CACTGAGAAA chr8: 127401060 0.6098,0.3902 0.62955530071355759,0.37044469928644240 Region score:0.81; TSS score:0.84; Unmatched score:0.71; Average GERP:4.0005643564356435 GeneName:CASC8; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000246228; TranscriptID:ENST00000502082; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CCAT2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000280997; TranscriptID:ENST00000630920; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000333360; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000869328; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PCAT1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000253438; TranscriptID:ENST00000645215; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:POU5F1B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000212993; TranscriptID:ENST00000645438; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001210 26965516 NONHSAT216396.1 rs6983267 G N/A 4,508 east asian ancestry cases//16,588 east asian ancestry controls; 11,044 east asian ancestry cases//18,036 east asian ancestry controls EFO_0005842 N/A Associate Colorectal cancer rs6983267-G of NONHSAT216396.1 is significantly associated with the colorectal cancer by using GWAS analysis in 4,508 east asian ancestry cases//16,588 east asian ancestry controls; 11,044 east asian ancestry cases//18,036 east asian ancestry controls(p-value = 5E-14 ;OR = 1.14). 0.4 Identification of Susceptibility Loci and Genes for Colorectal Cancer Risk. genome-wide association analysis NONHSAT216396.1 lncRNA Colorectal cancer 0.663 CAGATGAAAG(G > T)CACTGAGAAA chr8: 127401060 0.6098,0.3902 0.62955530071355759,0.37044469928644240 Region score:0.81; TSS score:0.84; Unmatched score:0.71; Average GERP:4.0005643564356435 GeneName:CASC8; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000246228; TranscriptID:ENST00000502082; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CCAT2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000280997; TranscriptID:ENST00000630920; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000333360; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000869328; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PCAT1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000253438; TranscriptID:ENST00000645215; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:POU5F1B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000212993; TranscriptID:ENST00000645438; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001210 26151821 NONHSAT216396.1 rs6983267 G N/A 18,299 european ancestry cases//19,656 european ancestry controls; 4,725 east asian ancestry cases//9,969 east asian ancestry controls EFO_0005842 N/A Associate Colorectal cancer rs6983267-G of NONHSAT216396.1 is significantly associated with the colorectal cancer by using GWAS analysis in 18,299 european ancestry cases//19,656 european ancestry controls; 4,725 east asian ancestry cases//9,969 east asian ancestry controls(p-value = 4E-14 ;OR = 1.1235955). 0.4 Genome-wide association study of colorectal cancer identifies six new susceptibility loci. genome-wide association analysis NONHSAT216396.1 lncRNA Colorectal cancer 0.663 CAGATGAAAG(G > T)CACTGAGAAA chr8: 127401060 0.6098,0.3902 0.62955530071355759,0.37044469928644240 Region score:0.81; TSS score:0.84; Unmatched score:0.71; Average GERP:4.0005643564356435 GeneName:CASC8; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000246228; TranscriptID:ENST00000502082; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CCAT2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000280997; TranscriptID:ENST00000630920; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000333360; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000869328; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PCAT1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000253438; TranscriptID:ENST00000645215; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:POU5F1B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000212993; TranscriptID:ENST00000645438; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001210 28960316 NONHSAT216396.1 rs6983267 G N/A 1,701 finnish ancestry cases//14,082 finnish ancestry controls; 11,647 european ancestry cases//12,356 european ancestry controls EFO_0005842 N/A Associate Colorectal cancer rs6983267-G of NONHSAT216396.1 is significantly associated with the colorectal cancer by using GWAS analysis in 1,701 finnish ancestry cases//14,082 finnish ancestry controls; 11,647 european ancestry cases//12,356 european ancestry controls(p-value = 2E-21 ;OR = 1.18). 0.4 Genome-wide association study and meta-analysis in Northern European populations replicate multiple colorectal cancer risk loci. genome-wide association analysis NONHSAT216396.1 lncRNA Colorectal cancer 0.663 CAGATGAAAG(G > T)CACTGAGAAA chr8: 127401060 0.6098,0.3902 0.62955530071355759,0.37044469928644240 Region score:0.81; TSS score:0.84; Unmatched score:0.71; Average GERP:4.0005643564356435 GeneName:CASC8; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000246228; TranscriptID:ENST00000502082; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CCAT2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000280997; TranscriptID:ENST00000630920; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000333360; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000869328; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PCAT1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000253438; TranscriptID:ENST00000645215; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:POU5F1B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000212993; TranscriptID:ENST00000645438; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001211 18391951 NONHSAT186326.1 rs1052483 C N/A 30,968 european ancestry individuals; 8,541 european ancestry individuals EFO_0004339 N/A Associate Height rs1052483-C of NONHSAT186326.1 is significantly associated with the height by using GWAS analysis in 30,968 european ancestry individuals; 8,541 european ancestry individuals(p-value = 1E-6 ;OR = 6.9). 0.4 Many sequence variants affecting diversity of adult human height. genome-wide association analysis NONHSAT186326.1 lncRNA Body height 0.33 GATGATGGCG(G > T)TCATCAAATG chr2: 219069626 0.87,0.13 0.86556288226299694,0.13443711773700305 Region score:0.31; TSS score:0.29; Unmatched score:0.09; Average GERP:0.07902871287128707 GeneName:AC097468.3; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000272644; TranscriptID:ENST00000607956; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001212 27863252 NONHSAT167488.1 rs6563842 T N/A 170,536 european ancestry individuals EFO_0007996 N/A Associate Eosinophil percentage of granulocytes rs6563842-T of NONHSAT167488.1 is significantly associated with the eosinophil percentage of granulocytes by using GWAS analysis in 170,536 european ancestry individuals(p-value = 2E-10 ;OR = 0.02494378). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT167488.1 lncRNA Eosinophil percentage of granulocytes 0.33 GATTACAAAA(G > A,T)AAGTTTTTCT chr13: 40670160 0.493,.,0.507 0.57133186799184505,0.01909722222222222,0.40957090978593272 Region score:0.28; TSS score:0.32; Unmatched score:0.2; Average GERP:0.23614752475247516 GeneName:FOXO1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000150907; TranscriptID:ENST00000379561; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001213 24377545 miRNA196a-2 rs11614913 T Dominant 2,000 large Chinese case-control sample EFO_0000182 N/A decreasing risk hepatocellular carcinoma rs11614913-T of hsa-mir-196a-2 and its dysfunction is significantly associated with the decreasing risk of Hepatocellular carcinoma by using case-control analysis in 2,000 large Chinese case-control sample 0.4 Association between single nucleotide polymorphisms in miRNA196a-2 and miRNA146a and susceptibility to hepatocellular carcinoma in a Chinese population. case-control analysis hsa-mir-196a-2 miRNA Hepatocellular carcinoma 0.795 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001213 26152337 hsa-mir-196a-2 rs11614913 T N/A 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A increasing risk hepatocellular carcinoma rs11614913-T of hsa-mir-196a-2 and its dysfunction is significantly associated with the increasing risk of Hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors 0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. case-control analysis hsa-mir-196a-2 miRNA Hepatocellular carcinoma 0.795 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001213 26365437 miR-196a-2 rs11614913 C Recessive 155 adult patients who underwent primary lt for hcc EFO_0000182 N/A Increased risk and poor prognosis Hepatocellular carcinoma recurrence after liver transplantation rs11614913-C of miR-196a-2 and its dysfunction is significantly associated with the increasing risk and poor prognosis of hepatocellular carcinoma recurrence after liver transplantation by using analysis of sequence variation in 155 adult patients who underwent primary LT for HCC. By using the disease cell lines or tissues, the mutation of miR-196a-2 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 Donor miR-196a-2 polymorphism is associated with hepatocellular carcinoma recurrence after liver transplantation in a Han Chinese population. analysis of sequence variation; Function hsa-mir-196a-2 miRNA Hepatocellular cancer 0.795 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001213 27509977 MIR196a2 rs11614913 T Dominant 60 hepatocellular carcinoma (HCC) patients and 150 controls EFO_0000182 N/A increasing risk hepatocellular carcinoma rs11614913-T of hsa-mir-196a-2 and its dysfunction is significantly associated with the increasing risk of Hepatocellular carcinoma by using case-control analysis in 60 hepatocellular carcinoma (HCC) patients and 150 controls 0.4 Combined Genotype Analyses of Precursor miRNA196a2 and 499a Variants with Hepatic and Renal Cancer Susceptibility a Preliminary Study. case-control analysis hsa-mir-196a-2 miRNA Hepatocellular carcinoma 0.795 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001213 21080878 miR-196a2 rs11614913 C Dominant 310 patients with HCC and 222 patients without HCC EFO_0000182 N/A increasing risk hepatocellular carcinoma rs11614913-C of hsa-mir-196a-2 and its dysfunction is significantly associated with the increasing risk of Hepatocellular carcinoma by using case-control analysis in 310 patients with HCC and 222 patients without HCC 0.4 A variant in microRNA-196a2 is associated with susceptibility to hepatocellular carcinoma in Chinese patients with cirrhosis. case-control analysis hsa-mir-196a-2 miRNA Hepatocellular carcinoma 0.795 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001213 28148887 miR-196a-2 rs11614913 T Dominant 3852 hepatocellular carcinoma cases and 5275 controls EFO_0000182 N/A Decreasing risk Hepatocellular carcinoma rs11614913-T of miR-196a-2 and its dysfunction is significantly associated with the decreasing risk of hepatocellular carcinoma by using meta-analysis in 3852 hepatocellular carcinoma cases and 5275 controls. 0.4 MiR-146a and miR-196a-2 polymorphisms are associated with hepatitis virus-related hepatocellular cancer risk: a meta-analysis. meta-analysis hsa-mir-196a-2 miRNA Hepatocellular cancer 0.795 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001213 30215231 miR-196a2 rs11614913 C N/A 100 hepatocellular carcinoma patients (70 males and 30 females) and 120 healthy controls (70 males and 50 females) in an Iranian Population. EFO_0000182 HBV-positive increasing risk hepatocellular carcinoma rs11614913-C of hsa-mir-196a-2 and its dysfunction is significantly associated with the increasing risk of Hepatocellular carcinoma by using case-control analysis in 100 hepatocellular carcinoma patients (70 males and 30 females) and 120 healthy controls (70 males and 50 females) in an Iranian Population. 0.4 Association of MicroRNA Polymorphisms With Hepatocellular Carcinoma in an Iranian Population. case-control analysis hsa-mir-196a-2 miRNA Hepatocellular carcinoma 0.795 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001213 22952151 miR-196a2 rs11614913 T Dominant 4 studies involving 26,018 subjects EFO_0000182 N/A Decreasing risk Hepatocellular carcinoma rs11614913-T of miR-196a2 and its dysfunction is significantly associated with the decreasing risk of hepatocellular carcinoma by using meta-analysis in 4 studies involving 26,018 subjects. 0.4 The association of miR-146a rs2910164 and miR-196a2 rs11614913 polymorphisms with cancer risk: a meta-analysis of 32 studies. meta-analysis hsa-mir-196a-2 miRNA Hepatocellular cancer 0.795 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001214 27863252 NONHSAT093154.2 rs9811216 C N/A 171,771 european ancestry individuals EFO_0009389 N/A Associate Sum eosinophil basophil counts rs9811216-C of NONHSAT093154.2 is significantly associated with the sum eosinophil basophil counts by using GWAS analysis in 171,771 european ancestry individuals(p-value = 9E-11 ;OR = 0.02646712). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT093154.2 lncRNA Sum of eosinophil and basophil counts 0.33 CTCCTCATGT(T > C)ACCGCCCGCT chr3: 169769713 0.6166,0.3834 0.68753185524974515,0.31246814475025484 Region score:0.5; TSS score:0.43; Unmatched score:0.9; Average GERP:-2.3033970297029707 GeneName:AC078802.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000269889; TranscriptID:ENST00000602879; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ACTRT3; CADD-Score:3; Consquence:5_prime_UTR; GeneID:ENSG00000184378; TranscriptID:ENST00000330368; AnnoType:5PRIME_UTR; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYNN; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000085274; TranscriptID:ENST00000349841; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000161539; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000708233; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF00024; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277925; TranscriptID:ENST00000363312; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TERC; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000270141; TranscriptID:ENST00000602385; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001215 28928442 NONHSAT207066.1 rs6539 ? N/A 46,936 european ancestry cases//74,874 european ancestry controls EFO_0007904 N/A Associate Childhood ear infection rs6539-? of NONHSAT207066.1 is significantly associated with the childhood ear infection by using GWAS analysis in 46,936 european ancestry cases//74,874 european ancestry controls(p-value = 3E-6 ;OR = 0.0618). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. genome-wide association analysis NONHSAT207066.1 lncRNA Susceptibility to childhood ear infection measurement 0.33 TACTGGGATC(C > T)GGTTTTCATT chr6: 30070213 0.07248,0.9275 0.10466042303771661,0.89533957696228338 Region score:0.38; TSS score:0.72; Unmatched score:0.82; Average GERP:0.76404 GeneName:PPP1R11; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000204619; TranscriptID:ENST00000376772; AnnoType:3PRIME_UTR; mirSVR-Score:-0.9914; mirSVR-E:-16.45 | GeneName:RNF39; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000204618; TranscriptID:ENST00000244360; AnnoType:DOWNSTREAM; mirSVR-Score:-0.9914; mirSVR-E:-16.45 | NCRV0000001216 26198764 NONHSAT164609.1 rs10783624 C N/A 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls EFO_0000692 N/A Associate Schizophrenia rs10783624-C of NONHSAT164609.1 is significantly associated with the schizophrenia by using GWAS analysis in 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls(p-value = 2E-6 ;OR = 1.0526316). 0.4 Genome-wide association study of schizophrenia in Ashkenazi Jews. genome-wide association analysis NONHSAT164609.1 lncRNA Schizophrenia 0.33 TACAGGACAC(C > A)CAGAGGTTAG chr12: 39129105 0.4886,0.5114 0.36672559887869520,0.63327440112130479 Region score:0.38; TSS score:0.32; Unmatched score:0.05; Average GERP:-0.7614504950495059 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001217 28468790 NONHSAT215031.1 rs11766524 ? N/A up to 439 european ancestry trios EFO_0005938 N/A Associate Left ventricular obstructive tract defect (maternal effect) rs11766524-? of NONHSAT215031.1 is significantly associated with the left ventricular obstructive tract defect (maternal effect) by using GWAS analysis in up to 439 european ancestry trios(p-value = 7E-6 ;OR = 1.9189513). 0.4 Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects. genome-wide association analysis NONHSAT215031.1 lncRNA Congenital left-sided heart lesions 0.33 TAAAAATTGT(C > T)TCCATTGTTC chr7: 119948217 0.9002,0.09984 0.84510384811416921,0.15489615188583078 Region score:0.37; TSS score:0.4; Unmatched score:0.21; Average GERP:-0.22727722772277226 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001218 25643325 NONHSAT210400.1 rs9270986 A N/A 972 european ancestry cases//1,977 european ancestry controls; 423 european ancestry cases//467 european ancestry controls EFO_0004991 N/A Associate Myasthenia gravis rs9270986-A of NONHSAT210400.1 is significantly associated with the myasthenia gravis by using GWAS analysis in 972 european ancestry cases//1,977 european ancestry controls; 423 european ancestry cases//467 european ancestry controls(p-value = 6E-8 ;OR = 1.43). 0.4 A genome-wide association study of myasthenia gravis. genome-wide association analysis NONHSAT210400.1 lncRNA Myasthenia gravis 0.33 GCATAACTAG(A > C)AGGTGCCATG chr6: 32606283 0.1735,0.8265 0.15452981651376146,0.84547018348623853 Region score:0.25; TSS score:0.33; Unmatched score:0.12; Average GERP:-0.7359742574257425 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001219 27659466 NONHSAT151298.1 rs2997447 ? N/A up to 47,942 european ancestry individuals//up to 690 orcadian (founder/genetic isolate) individuals; 13,263 european ancestry individuals//3,603 african american individuals//4,619 indian ancestry individuals EFO_0003777 N/A Associate Qrs complex (12-leadsum) rs2997447-? of NONHSAT151298.1 is significantly associated with the qrs complex (12-leadsum) by using GWAS analysis in up to 47,942 european ancestry individuals//up to 690 orcadian (founder/genetic isolate) individuals; 13,263 european ancestry individuals//3,603 african american individuals//4,619 indian ancestry individuals(p-value = 2E-8 ;OR = ?). 0.4 52 Genetic Loci Influencing Myocardial Mass. genome-wide association analysis NONHSAT151298.1 lncRNA Heart disease 0.33 GCGTCTGACC(G > A)CTCCCCTGTG chr1: 26060932 0.8101,0.1899 0.75504905708460754,0.24495094291539245 Region score:0.45; TSS score:0.44; Unmatched score:0.56; Average GERP:2.0364019801980198 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000351411; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000351412; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TRIM63; CADD-Score:2; Consquence:intron; GeneID:ENSG00000158022; TranscriptID:ENST00000374272; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001220 27863252 NONHSAT145456.2 rs377079849 C N/A 169,219 european ancestry individuals EFO_0007988 N/A Associate Myeloid white cell count rs377079849-C of NONHSAT145456.2 is significantly associated with the myeloid white cell count by using GWAS analysis in 169,219 european ancestry individuals(p-value = 3E-9 ;OR = 0.02311696). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT145456.2 lncRNA Myeloid white cell count 0.33 TATATATATA(CAT > C)ATATATATAT chr17: 7884457 0.5206,0.4794 0.54670775993883792,0.45329224006116207 N/A GeneName:CHD3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000170004; TranscriptID:ENST00000380358; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NAA38; CADD-Score:2; Consquence:intron; GeneID:ENSG00000183011; TranscriptID:ENST00000576861; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000090915; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001221 21378988 NONHSAT186057.1 rs7586970 ? N/A 8,424 european ancestry cases//7,268 european ancestry controls//6,996 south asian ancestry cases//7,794 south asian ancestry controls; 18,049 european ancestry cases//16,357 european ancestry controls//3,359 south asian ancestry cases//2,828 south asian ancestry controls EFO_0001645 N/A Associate Coronary heart disease rs7586970-? of NONHSAT186057.1 is significantly associated with the coronary heart disease by using GWAS analysis in 8,424 european ancestry cases//7,268 european ancestry controls//6,996 south asian ancestry cases//7,794 south asian ancestry controls; 18,049 european ancestry cases//16,357 european ancestry controls//3,359 south asian ancestry cases//2,828 south asian ancestry controls(p-value = 9E-6 ;OR = ?). 0.4 A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease. genome-wide association analysis NONHSAT186057.1 lncRNA Coronary heart disease 0.33 ATGAGCCGCA(T > C,G)TCTTCCAACC chr2: 187478770 0.7183,0.2817,. 0.69667431192660550,0.30331772426095820,0.00000796381243628 Region score:0.29; TSS score:0.36; Unmatched score:0.51; Average GERP:2.896029702970297 GeneName:AC007319.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000224063; TranscriptID:ENST00000412276; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TFPI; CADD-Score:2; Consquence:intron; GeneID:ENSG00000003436; TranscriptID:ENST00000233156; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001222 29059683 NONHSAT217625.1 rs7017073 C N/A 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls EFO_0000305 N/A Associate Breast cancer rs7017073-C of NONHSAT217625.1 is significantly associated with the breast cancer by using GWAS analysis in 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls(p-value = 2E-14 ;OR = 0.0572). 0.4 Association analysis identifies 65 new breast cancer risk loci. genome-wide association analysis NONHSAT217625.1 lncRNA Breast cancer 0.33 ATGACATTAC(T > C)GAAGATACAA chr8: 128192016 0.7141,0.2859 0.75990698267074413,0.24009301732925586 Region score:0.36; TSS score:0.34; Unmatched score:0.1; Average GERP:-0.7954980198019804 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000869540; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001223 27863252 NONHSAT173445.1 rs12447180 C N/A 171,846 european ancestry individuals EFO_0005090 N/A Associate White blood cell count (basophil) rs12447180-C of NONHSAT173445.1 is significantly associated with the white blood cell count (basophil) by using GWAS analysis in 171,846 european ancestry individuals(p-value = 5E-18 ;OR = 0.03246716). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT173445.1 lncRNA Basophil count 0.33 ATATATGGGC(T > C)CATAGAAATA chr16: 88451314 0.5673,0.4327 0.62097827471967380,0.37902172528032619 Region score:0.38; TSS score:0.57; Unmatched score:0.59; Average GERP:-0.5975950495049506 GeneName:ZFPM1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000179588; TranscriptID:ENST00000319555; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001224 24189344 NONHSAT152129.1 rs6537825 A N/A 275 chinese ancestry cases and 550 chinese ancestry controls from 275 trios//136 chinese ancestry cases//984 chinese ancestry controls; 1,299 european ancestry cases and 2,598 european ancestry controls from 1,299 trios EFO_0003756 N/A Associate Autism rs6537825-A of NONHSAT152129.1 is significantly associated with the autism by using GWAS analysis in 275 chinese ancestry cases and 550 chinese ancestry controls from 275 trios//136 chinese ancestry cases//984 chinese ancestry controls; 1,299 european ancestry cases and 2,598 european ancestry controls from 1,299 trios(p-value = 3E-8 ;OR = 1.4). 0.4 Common genetic variants on 1p13.2 associate with risk of autism. genome-wide association analysis NONHSAT152129.1 lncRNA Autism spectrum disorder 0.33 TGCAGGTTCA(A > G)TTTTCACATG chr1: 114405659 0.1436,0.8564 0.09454638124362895,0.90545361875637104 Region score:0.47; TSS score:0.23; Unmatched score:0.53; Average GERP:3.9094257425742605 GeneName:TRIM33; CADD-Score:7; Consquence:missense; GeneID:ENSG00000197323; TranscriptID:ENST00000358465; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001225 18356149 miR-206 rs542422778 T Dominant >100 human tumor tissues and 20 cancer cell lines EFO_0005842 N/A Increasing risk Colorectal cancer rs542422778-T of miR-206 and its dysfunction is significantly associated with the increasing risk of colorectal cancer by using case-control analysis in >100 human tumor tissues and 20 cancer cell lines. 0.4 Genetic variations of microRNAs in human cancer and their effects on the expression of miRNAs. case-control analysis hsa-mir-206 miRNA Colorectal cancer 0.33 ACCCGGAGCA(C > T)AGGTTTGGTG chr6: 52144469 0.9932,0.006789 0.99996814475025484,0.00003185524974515 N/A GeneName:LINCMD1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000225613; TranscriptID:ENST00000418518; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR133B; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000199080; TranscriptID:ENST00000362210; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR206; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207604; TranscriptID:ENST00000384872; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001226 27863252 NONHSAT197522.1 rs11359909 A N/A 170,384 european ancestry individuals EFO_0009390 N/A Associate Sum neutrophil eosinophil counts rs11359909-A of NONHSAT197522.1 is significantly associated with the sum neutrophil eosinophil counts by using GWAS analysis in 170,384 european ancestry individuals(p-value = 3E-25 ;OR = 0.06062021). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT197522.1 lncRNA Sum of neutrophil and eosinophil counts 0.33 TAGGAAGCAG(AG > A)GGGGGGACCC chr3: 128603030 N/A 0.11369935015290519,0.88630064984709480 N/A GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001227 22778062 SNORD115-29 rs72546392 T N/a N/a function N/A Not significant changes in the structure Function rs72546392-T of SNORD115-29 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD115-29 snoRNA Function -0.049 TGATGAGAAC(C > T)TTATATTGTC chr15: 25223263 0.9878,0.01218 0.98798260703363914,0.01201739296636085 Region score:0.5; TSS score:0.06; Unmatched score:0.59; Average GERP:-0.014822871287128808 GeneName:SNHG14; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000224078; TranscriptID:ENST00000453082; AnnoType:INTRONIC; mirSVR-Score:-0.0506; mirSVR-E:-10.64 | GeneName:SNORD115-26; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000275524; TranscriptID:ENST00000365067; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0506; mirSVR-E:-10.64 | GeneName:SNORD115-27; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000201300; TranscriptID:ENST00000364430; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0506; mirSVR-E:-10.64 | GeneName:SNORD115-28; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000200801; TranscriptID:ENST00000363931; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0506; mirSVR-E:-10.64 | GeneName:SNORD115-29; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000199704; TranscriptID:ENST00000362834; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0506; mirSVR-E:-10.64 | GeneName:SNORD115-30; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000200987; TranscriptID:ENST00000364117; AnnoType:UPSTREAM; mirSVR-Score:-0.0506; mirSVR-E:-10.64 | GeneName:SNORD115-31; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000202188; TranscriptID:ENST00000365318; AnnoType:UPSTREAM; mirSVR-Score:-0.0506; mirSVR-E:-10.64 | NCRV0000001228 26152337 hsa-mir-627 rs2620381 C N/a 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A Increasing risk Hepatocellular carcinoma rs2620381-C of hsa-mir-627 and its dysfunction is significantly associated with the increasing risk of hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors. 0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. case-control analysis hsa-mir-627 miRNA Hepatocellular cancer 0.33 TTAGAGACTC(A > C)CTACCAGTAA chr15: 42199650 0.9159,0.08407 0.94436480632008154,0.05563519367991845 Region score:0.42; TSS score:0.02; Unmatched score:0.33; Average GERP:-0.27594316831683147 GeneName:MIR627; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207712; TranscriptID:ENST00000384979; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:VPS39; CADD-Score:2; Consquence:intron; GeneID:ENSG00000166887; TranscriptID:ENST00000348544; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001229 22319602 hsa-miRNA-1207-5p rs13385 T N/A 103 patients diagnosed with mild or severe glomerulopathy EFO_0003086 N/A increasing risk kidney disease rs13385-T of hsa-mir-1207 and its dysfunction is significantly associated with the increasing risk of Kidney disease by using analysis of sequence variation in 103 patients diagnosed with mild or severe glomerulopathy 0.9 A miR-1207-5p binding site polymorphism abolishes regulation of HBEGF and is associated with disease severity in CFHR5 nephropathy. analysis of sequence variation hsa-mir-1207 miRNA Kidney disease 0.593 CTGAGACTTG(G > A)CAGGGAGAGG chr5: 140333293 0.8035,0.1965 0.82227159785932721,0.17772840214067278 Region score:0.57; TSS score:0.72; Unmatched score:0.93; Average GERP:2.234668316831683 GeneName:HBEGF; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000113070; TranscriptID:ENST00000230990; AnnoType:3PRIME_UTR; mirSVR-Score:-0.8925; mirSVR-E:-36.52 | NCRV0000001230 27863252 NONHSAT004977.2 rs663045 C N/A 169,545 european ancestry individuals EFO_0007997 N/A Associate Granulocyte percentage of myeloid white cells rs663045-C of NONHSAT004977.2 is significantly associated with the granulocyte percentage of myeloid white cells by using GWAS analysis in 169,545 european ancestry individuals(p-value = 4E-10 ;OR = 0.02248371). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT004977.2 lncRNA Granulocyte percentage of myeloid white cells 0.33 GAGGGAGCTG(G > C)GAGCTGGGTC chr1: 108200437 0.4187,0.5813 0.45580880479102956,0.54419119520897043 Region score:0.42; TSS score:0.43; Unmatched score:0.98; Average GERP:-2.1942909900990104 GeneName:AL359258.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000260879; TranscriptID:ENST00000564063; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AL359258.3; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000280186; TranscriptID:ENST00000622910; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000010962; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000367943; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SLC25A24; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000085491; TranscriptID:ENST00000565488; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001231 22778062 SNORA13 rs17266115 g N/A N/A function N/A not significant changes in the structure function rs17266115-g of SNORA13 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in nan -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORA13 snoRNA function -0.049 GCTGCATAAG(T > G)AACAGTTGCT chr5: 112161610 0.905,0.09505 0.87761213047910295,0.12238786952089704 Region score:0.14; TSS score:0.19; Unmatched score:0.84; Average GERP:-0.23714653465346522 GeneName:EPB41L4A-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000224032; TranscriptID:ENST00000413221; AnnoType:INTRONIC; mirSVR-Score:-0.0337; mirSVR-E:-13.41 | GeneName:EPB41L4A; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000129595; TranscriptID:ENST00000261486; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0337; mirSVR-E:-13.41 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000185293; AnnoType:REGULATORY; mirSVR-Score:-0.0337; mirSVR-E:-13.41 | GeneName:SNORA13; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000238363; TranscriptID:ENST00000458790; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0337; mirSVR-E:-13.41 | NCRV0000001232 25673412 NONHSAT018519.2 rs6265 T N/A up to 56,910 european ancestry men//up to 86,570 european ancestry women; up to 36,570 european ancestry men//30,172 european ancestry women//915 filipino ancestry men//735 filipino ancestry women//2,351 african american/afro-caribbean ancestry men//6,258 african american/afro-caribbean ancestry women//2,285 south asian ancestry men//506 south asian ancestry women//195 seychellois ancestry men//266 seychellois ancestry women EFO_0005093 N/A Associate Hip circumference rs6265-T of NONHSAT018519.2 is significantly associated with the hip circumference by using GWAS analysis in up to 56,910 european ancestry men//up to 86,570 european ancestry women; up to 36,570 european ancestry men//30,172 european ancestry women//915 filipino ancestry men//735 filipino ancestry women//2,351 african american/afro-caribbean ancestry men//6,258 african american/afro-caribbean ancestry women//2,285 south asian ancestry men//506 south asian ancestry women//195 seychellois ancestry men//266 seychellois ancestry women(p-value = 1E-14 ;OR = 0.0343). 0.4 New genetic loci link adipose and insulin biology to body fat distribution. genome-wide association analysis NONHSAT018519.2 lncRNA Hip circumference 0.33 TCTTCTATCA(C > T)GTGTTCGAAA chr11: 27658369 0.7987,0.2013 0.83567469418960244,0.16432530581039755 Region score:0.5; TSS score:0.56; Unmatched score:0.75; Average GERP:3.0963910891089115 GeneName:BDNF-AS; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000245573; TranscriptID:ENST00000499008; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.6233; mirSVR-E:-17.45 | GeneName:BDNF; CADD-Score:7; Consquence:missense; GeneID:ENSG00000176697; TranscriptID:ENST00000438929; AnnoType:NON_SYNONYMOUS; mirSVR-Score:-0.6233; mirSVR-E:-17.45 | NCRV0000001233 23218918 NONHSAT180215.1 rs875622 ? N/A 70 unaffected relatives of cases with bipolar disorder//80 controls EFO_0000289 N/A Associate White matter integrity rs875622-? of NONHSAT180215.1 is significantly associated with the white matter integrity by using GWAS analysis in 70 unaffected relatives of cases with bipolar disorder//80 controls(p-value = 4E-6 ;OR = ?). 0.4 White matter integrity as an intermediate phenotype: exploratory genome-wide association analysis in individuals at high risk of bipolar disorder. genome-wide association analysis NONHSAT180215.1 lncRNA Bipolar disorder 0.33 TCTGCGATGC(A > G)CTGCCTCTGA chr19: 16356948 0.3301,0.6699 0.32130797655453618,0.67869202344546381 Region score:0.13; TSS score:0.23; Unmatched score:0.12; Average GERP:-0.492443564356436 GeneName:AC020917.3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277825; TranscriptID:ENST00000621050; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC020917.4; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000280332; TranscriptID:ENST00000623994; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:EPS15L1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000127527; TranscriptID:ENST00000455140; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001234 25742292 NONHSAT150206.1 rs12408261 ? N/A 1,686 bangladeshi women EFO_0006918 N/A Associate Number of pregnancies rs12408261-? of NONHSAT150206.1 is significantly associated with the number of pregnancies by using GWAS analysis in 1,686 bangladeshi women(p-value = 3E-6 ;OR = 0.28). 0.4 Genome-wide association study of parity in Bangladeshi women. genome-wide association analysis NONHSAT150206.1 lncRNA Female fertility 0.33 GCAATATATA(G > A)TTTCAATAAT chr1: 189444045 0.608,0.392 0.61127835117227319,0.38872164882772680 Region score:0.27; TSS score:0.13; Unmatched score:0.05; Average GERP:-0.5255287128712871 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001235 23273568 NONHSAT115190.2 rs2230926 G N/A 1,656 han chinese ancestry cases//3,394 han chinese ancestry controls; 3,256 han chinese ancestry cases//5,667 han chinese ancestry controls//453 thai ancestry cases//963 thai ancestry controls EFO_0002690 N/A Associate Systemic lupus erythematosus rs2230926-G of NONHSAT115190.2 is significantly associated with the systemic lupus erythematosus by using GWAS analysis in 1,656 han chinese ancestry cases//3,394 han chinese ancestry controls; 3,256 han chinese ancestry cases//5,667 han chinese ancestry controls//453 thai ancestry cases//963 thai ancestry controls(p-value = 1E-13 ;OR = 2.71). 0.4 Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians. genome-wide association analysis NONHSAT115190.2 lncRNA Systemic lupus erythematosus 0.565 AAGGCGCTGT(T > C,G)CAGCACGCTC chr6: 137874929 0.8604,.,0.1396 0.86552306320081549,.,0.13447693679918450 Region score:0.29; TSS score:0.21; Unmatched score:0.57; Average GERP:3.5411920792079243 GeneName:TNFAIP3; CADD-Score:7; Consquence:missense; GeneID:ENSG00000118503; TranscriptID:ENST00000612899; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001235 27399966 NONHSAT115190.2 rs2230926 ? N/A 1,659 chinese ancestry cases//3,398 chinese ancestry controls//4,036 european ancestry cases//6,959 european ancestry controls; 3,043 chinese ancestry cases//5,074 chinese ancestry controls//2,643 european ancestry cases//9,032 european ancestry controls EFO_0002690 N/A Associate Systemic lupus erythematosus rs2230926-? of NONHSAT115190.2 is significantly associated with the systemic lupus erythematosus by using GWAS analysis in 1,659 chinese ancestry cases//3,398 chinese ancestry controls//4,036 european ancestry cases//6,959 european ancestry controls; 3,043 chinese ancestry cases//5,074 chinese ancestry controls//2,643 european ancestry cases//9,032 european ancestry controls(p-value = 1E-12 ;OR = 2.03). 0.4 Genome-wide association meta-analysis in Chinese and European individuals identifies ten new loci associated with systemic lupus erythematosus. genome-wide association analysis NONHSAT115190.2 lncRNA Systemic lupus erythematosus 0.565 AAGGCGCTGT(T > C,G)CAGCACGCTC chr6: 137874929 0.8604,.,0.1396 0.86552306320081549,.,0.13447693679918450 Region score:0.29; TSS score:0.21; Unmatched score:0.57; Average GERP:3.5411920792079243 GeneName:TNFAIP3; CADD-Score:7; Consquence:missense; GeneID:ENSG00000118503; TranscriptID:ENST00000612899; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001235 26663301 NONHSAT115190.2 rs2230926 ? N/A 1,174 korean ancestry cases//4,246 korean ancestry controls; 739 korean ancestry cases// 677 chinese ancestry cases// 436 korean ancestry controls//709 chinese ancestry controls EFO_0002690 N/A Associate Systemic lupus erythematosus rs2230926-? of NONHSAT115190.2 is significantly associated with the systemic lupus erythematosus by using GWAS analysis in 1,174 korean ancestry cases//4,246 korean ancestry controls; 739 korean ancestry cases// 677 chinese ancestry cases// 436 korean ancestry controls//709 chinese ancestry controls(p-value = 2E-14 ;OR = 1.93). 0.4 Identification of a Systemic Lupus Erythematosus Risk Locus Spanning ATG16L2, FCHSD2, and P2RY2 in Koreans. genome-wide association analysis NONHSAT115190.2 lncRNA Systemic lupus erythematosus 0.565 AAGGCGCTGT(T > C,G)CAGCACGCTC chr6: 137874929 0.8604,.,0.1396 0.86552306320081549,.,0.13447693679918450 Region score:0.29; TSS score:0.21; Unmatched score:0.57; Average GERP:3.5411920792079243 GeneName:TNFAIP3; CADD-Score:7; Consquence:missense; GeneID:ENSG00000118503; TranscriptID:ENST00000612899; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001235 19838193 NONHSAT115190.2 rs2230926 C N/A 1,047 han chinese ancestry cases//1,205 han chinese ancestry controls; 3,152 han chinese ancestry cases//7,050 han chinese ancestry controls EFO_0002690 N/A Associate Systemic lupus erythematosus rs2230926-C of NONHSAT115190.2 is significantly associated with the systemic lupus erythematosus by using GWAS analysis in 1,047 han chinese ancestry cases//1,205 han chinese ancestry controls; 3,152 han chinese ancestry cases//7,050 han chinese ancestry controls(p-value = 1E-17 ;OR = 1.72). 0.4 Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus. genome-wide association analysis NONHSAT115190.2 lncRNA Systemic lupus erythematosus 0.565 AAGGCGCTGT(T > C,G)CAGCACGCTC chr6: 137874929 0.8604,.,0.1396 0.86552306320081549,.,0.13447693679918450 Region score:0.29; TSS score:0.21; Unmatched score:0.57; Average GERP:3.5411920792079243 GeneName:TNFAIP3; CADD-Score:7; Consquence:missense; GeneID:ENSG00000118503; TranscriptID:ENST00000612899; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001236 27863252 NONHSAT031256.2 rs2255531 A N/A 166,066 european ancestry individuals EFO_0004309 N/A Associate Platelet count rs2255531-A of NONHSAT031256.2 is significantly associated with the platelet count by using GWAS analysis in 166,066 european ancestry individuals(p-value = 3E-10 ;OR = 0.02417885). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT031256.2 lncRNA Platelet count 0.33 TAATTCTTTG(G > A)GGTTTTGCAT chr12: 120977112 0.6258,0.3742 0.65155931447502548,0.34844068552497451 Region score:0.22; TSS score:0.17; Unmatched score:0.37; Average GERP:0.023058415841584166 GeneName:HNF1A-AS1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000241388; TranscriptID:ENST00000539163; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HNF1A; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000135100; TranscriptID:ENST00000544413; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001237 28240269 NONHSAT205644.1 rs7713972 C N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0008093 N/A Associate Blood protein levels rs7713972-C of NONHSAT205644.1 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 5E-14 ;OR = 0.4319). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. genome-wide association analysis NONHSAT205644.1 lncRNA Complement component c7 measurement 0.33 AGGAGCTAGA(C > T)GTTCTATTTA chr5: 40552372 0.2919,0.7081 0.19930237003058103,0.80069762996941896 Region score:0.49; TSS score:0.56; Unmatched score:0.47; Average GERP:1.2847396039603967 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000180001; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TTC33; CADD-Score:2; Consquence:intron; GeneID:ENSG00000113638; TranscriptID:ENST00000636863; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001238 23342264 miR-142 chr17:56408595 T Dominant 56 DLBCL cases EFO_0000403 N/A increasing risk diffuse large B-cell lymphoma chr17:56408595-T of hsa-mir-142 and its dysfunction is significantly associated with the increasing risk of Diffuse large b-cell lymphoma by using analysis of sequence variation in 56 DLBCL cases 0.4 MicroRNA-142 is mutated in about 20% of diffuse large B-cell lymphoma. analysis of sequence variation hsa-mir-142 miRNA Diffuse large b-cell lymphoma 0.33 CCGAAGCCCA(C > T)AGTACACTCA chr17:56408595 - - - GeneName:MIR4736; CADD_Score:1; Consquence:downstream; GeneID:ENSG00000264399; TranscriptID:ENST00000581591; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:BZRAP1; CADD_Score:1; Consquence:upstream; GeneID:ENSG00000005379; TranscriptID:ENST00000343736; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR142; CADD_Score:5; Consquence:noncoding_change; GeneID:ENSG00000265206; TranscriptID:ENST00000579003; AnnoType:NonCodingTranscript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD_Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000283927; AnnoType:RegulatoryFeature; mirSVR-Score:NA; mirSVR-E:NA | GeneName:BZRAP1-AS1; CADD_Score:2; Consquence:intronic; GeneID:ENSG00000265148; TranscriptID:ENST00000579527; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001239 29773352 ANRIL rs7865618 A Recessive 200 atherothrombotic stroke cases and 205 controls EFO_1001976 N/A increasing risk atherothrombotic stroke rs7865618-A of ANRIL and its dysfunction is significantly associated with the increasing risk of Cardioembolic stroke by using case-control analysis in 200 atherothrombotic stroke cases and 205 controls 0.4 The ANRIL Genetic Variants and Their Interactions with Environmental Risk Factors on Atherothrombotic Stroke in a Han Chinese Population. case-control analysis ANRIL lncRNA Cardioembolic stroke 0.33 TTCTTAAACC(G > A,T)GCATCATGGA chr9: 22031006 0.1881,0.8119,. 0.26949541284403669,0.72885607798165137,0.00164850917431192 Region score:0.44; TSS score:0.29; Unmatched score:0.29; Average GERP:-0.004231683168316833 GeneName:AL359922.1; CADD-Score:2; Consquence:intron,NMD; GeneID:ENSG00000264545; TranscriptID:ENST00000404796; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CDKN2B-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000240498; TranscriptID:ENST00000428597; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000877576; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001240 18356149 miR-208 rs747303454 A Dominant >100 human tumor tissues and 20 cancer cell lines EFO_0001663 N/A increasing risk prostate carcinoma rs747303454-A of hsa-mir-208a and its dysfunction is significantly associated with the increasing risk of Prostate carcinoma by using case-control analysis in >100 human tumor tissues and 20 cancer cell lines 0.4 Genetic variations of microRNAs in human cancer and their effects on the expression of miRNAs. case-control analysis hsa-mir-208a miRNA Prostate carcinoma 0.33 CGGGCCAAAA(G > A,T)CTCGCCCGTC chr14: 23388655 0 0.99989647043832823,0.00008760193679918,0.00001592762487257 - GeneName:MIR208A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000199157; TranscriptID:ENST00000362287; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYH6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197616; TranscriptID:ENST00000405093; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001241 25282103 NONHSAT021290.2 rs1681630 T N/A 253,288 european ancestry individuals; 80,067 european ancestry individuals EFO_0004339 N/A Associate Height rs1681630-T of NONHSAT021290.2 is significantly associated with the height by using GWAS analysis in 253,288 european ancestry individuals; 80,067 european ancestry individuals(p-value = 2E-20 ;OR = 0.029). 0.4 Defining the role of common variation in the genomic and biological architecture of adult human height. genome-wide association analysis NONHSAT021290.2 lncRNA Body height 0.33 TGGTTAATAC(T > A,C)TCAAACCAAG chr11: 47947600 0.4221,.,0.5779 0.43812117737003058,0.00078841743119266,0.56109040519877675 Region score:0.33; TSS score:0.41; Unmatched score:0.28; Average GERP:-0.27384693069306904 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001242 27863252 NONHSAT207279.1 rs16895831 T N/A 171,542 european ancestry individuals EFO_0007990 N/A Associate Neutrophil percentage of white cells rs16895831-T of NONHSAT207279.1 is significantly associated with the neutrophil percentage of white cells by using GWAS analysis in 171,542 european ancestry individuals(p-value = 2E-10 ;OR = 0.02848855). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT207279.1 lncRNA Neutrophil percentage of leukocytes 0.33 TGGCTGCCGG(C > T)TGTGGATTCC chr6: 42548053 0.8033,0.1967 0.79576803007135575,0.20423196992864424 Region score:0.39; TSS score:0.39; Unmatched score:0.52; Average GERP:0.009751485148514826 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000790835; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001243 26053186 NONHSAT104496.2 rs78823151 ? N/A 362 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//438 european ancestry current smoker individuals//449 latino current smoker individuals//704 japanese ancestry current smoker individuals EFO_0001071 in smokers Associate 3-hydroxypropylmercapturic acid levels in smokers rs78823151-? of NONHSAT104496.2 is significantly associated with the 3-hydroxypropylmercapturic acid levels in smokers by using GWAS analysis in 362 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//438 european ancestry current smoker individuals//449 latino current smoker individuals//704 japanese ancestry current smoker individuals(p-value = 8E-6 ;OR = 0.6201). 0.4 Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer. genome-wide association analysis NONHSAT104496.2 lncRNA Lung cancer 0.33 AATGCGCCAA(G > A)CATAAAGGTG chr5: 149428439 0.9738,0.02616 0.97123470948012232,0.02876529051987767 Region score:0.4; TSS score:0.32; Unmatched score:0.42; Average GERP:-0.7454643564356436 GeneName:AC131025.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000275871; TranscriptID:ENST00000622374; AnnoType:UPSTREAM; mirSVR-Score:-0.0046; mirSVR-E:-17.78 | GeneName:CARMN; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000249669; TranscriptID:ENST00000602964; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0046; mirSVR-E:-17.78 | GeneName:MIR143; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284182; TranscriptID:ENST00000385300; AnnoType:UPSTREAM; mirSVR-Score:-0.0046; mirSVR-E:-17.78 | GeneName:MIR145; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000276365; TranscriptID:ENST00000384967; AnnoType:UPSTREAM; mirSVR-Score:-0.0046; mirSVR-E:-17.78 | NCRV0000001244 28084903 NONHSAT184541.1 rs151256649 ? N/A 123 european ancestry cases//1,345 european and unknown ancestry controls//1 middle eastern ancestry case; nr HP_0012735 angiotensin-converting enzyme inhibitor drugs Associate Cough in response to angiotensin-converting enzyme inhibitor drugs rs151256649-? of NONHSAT184541.1 is significantly associated with the cough in response to angiotensin-converting enzyme inhibitor drugs by using GWAS analysis in 123 european ancestry cases//1,345 european and unknown ancestry controls//1 middle eastern ancestry case; nr(p-value = 3E-7 ;OR = 16.11). 0.4 Genetic variants associated with angiotensin-converting enzyme inhibitor-induced cough: a genome-wide association study in a Swedish population. genome-wide association analysis NONHSAT184541.1 lncRNA Cough 0.33 TGTCAAGGGT(C > G)ACAGGCAGGT chr2: 42955614 0.998,0.001997 0.99534913353720693,0.00465086646279306 Region score:0.31; TSS score:0.29; Unmatched score:0.09; Average GERP:0.0010900990099010459 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001245 27622933 NONHSAT202570.1 rs56388524 ? N/A 1,861 european ancestry non-responder cases//192,070 european ancestry healthy controls EFO_0003761 antidepressants Associate Non-response to bupropion and depression rs56388524-? of NONHSAT202570.1 is significantly associated with the non-response to bupropion and depression by using GWAS analysis in 1,861 european ancestry non-responder cases//192,070 european ancestry healthy controls(p-value = 7E-7 ;OR = 1.798). 0.4 Analysis of 23andMe antidepressant efficacy survey data: implication of circadian rhythm and neuroplasticity in bupropion response. genome-wide association analysis NONHSAT202570.1 lncRNA Unipolar depression 0.33 GATTCTGATG(C > T)GAGGCATACA chr5: 45757459 0.9924,0.007588 0.98437500000000000,0.01562500000000000 Region score:0.39; TSS score:0.27; Unmatched score:0; Average GERP:-0.3584267326732674 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001246 27863252 NONHSAT182392.1 rs1448203 C N/A 172,433 european ancestry individuals EFO_0004526 N/A Associate Mean corpuscular volume rs1448203-C of NONHSAT182392.1 is significantly associated with the mean corpuscular volume by using GWAS analysis in 172,433 european ancestry individuals(p-value = 6E-33 ;OR = 0.06338378). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT182392.1 lncRNA Mean corpuscular volume 0.33 TCGACATGCT(T > A,C)CAGTCATGGC chr2: 111510708 0.1366,.,0.8634 0.14329287716615698,0.00704797400611620,0.84965914882772680 Region score:0.41; TSS score:0.26; Unmatched score:0.45; Average GERP:-0.2675319801980197 GeneName:AC017002.3; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000240350; TranscriptID:ENST00000455309; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC017002.5; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000280878; TranscriptID:ENST00000630717; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC017002.6; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000285016; TranscriptID:ENST00000644013; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR4435-2HG; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000172965; TranscriptID:ENST00000643766; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000121798; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000292945; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001247 23326239 NONHSAT108921.2 rs2854275 T N/A 1,367 mexican american indivduals; 589 mexican american indivduals EFO_0000769 N/A Associate Epstein-barr virus immune response (ebna-1) rs2854275-T of NONHSAT108921.2 is significantly associated with the epstein-barr virus immune response (ebna-1) by using GWAS analysis in 1,367 mexican american indivduals; 589 mexican american indivduals(p-value = 2E-10 ;OR = 0.45). 0.4 A genome-wide integrative genomic study localizes genetic factors influencing antibodies against Epstein-Barr virus nuclear antigen 1 (EBNA-1). genome-wide association analysis NONHSAT108921.2 lncRNA Epstein-barr virus infection 0.33 CTCCACATTT(C > A)ACAAGAAGAT chr6: 32660651 0.9351,0.0649 0.90363786952089704,0.09636213047910295 Region score:0.27; TSS score:0.43; Unmatched score:0.71; Average GERP:-0.6410940594059404 GeneName:HLA-DQB1-AS1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000223534; TranscriptID:ENST00000419852; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HLA-DQB1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000179344; TranscriptID:ENST00000374943; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000787946; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001248 21841780 NONHSAT208982.1 rs1521 T N/A 1,468 chinese ancestry cases//1,490 chinese ancestry controls; 3,994 chinese ancestry cases//3,510 chinese ancestry controls EFO_0004237 N/A Associate Graves' disease rs1521-T of NONHSAT208982.1 is significantly associated with the graves' disease by using GWAS analysis in 1,468 chinese ancestry cases//1,490 chinese ancestry controls; 3,994 chinese ancestry cases//3,510 chinese ancestry controls(p-value = 2E-65 ;OR = 1.92). 0.4 A genome-wide association study identifies two new risk loci for Graves' disease. genome-wide association analysis NONHSAT208982.1 lncRNA Graves disease 0.33 TGATTCTCAG(C > T)TCAGGATTTC chr6: 31382927 0.2147,0.7853 0.26003440366972477,0.73996559633027522 Region score:0.09; TSS score:0.27; Unmatched score:0.47; Average GERP:0 GeneName:FGFR3P1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000230994; TranscriptID:ENST00000449999; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HLA-S; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000225851; TranscriptID:ENST00000425174; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ZDHHC20P2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000223702; TranscriptID:ENST00000424108; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001249 26261633 miR100 rs1834306 C Recessive 248 Kazakh patients with ESCC and 300 frequency matched control subjects EFO_0005922 N/A decreasing risk esophageal squamous cell carcinoma rs1834306-C of hsa-mir-100 and its dysfunction is significantly associated with the decreasing risk of Esophageal squamous cell carcinoma by using case-control analysis in 248 Kazakh patients with ESCC and 300 frequency matched control subjects 0.4 Genetic variation in miR-100 rs1834306 is associated with decreased risk for esophageal squamous cell carcinoma in Kazakh patients in northwest China. case-control analysis hsa-mir-100 miRNA Esophageal squamous cell carcinoma 0.33 GTTCTCCCCA(A > G)CGTGCTTCCC chr11: 122152479 0.5471,0.4529 0.52398700305810397,0.47601299694189602 Region score:0.42; TSS score:0.47; Unmatched score:0.58; Average GERP:-2.193261089108911 GeneName:MIR100; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207994; TranscriptID:ENST00000385259; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR100HG; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000255248; TranscriptID:ENST00000534782; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001250 25103824 hsa-mir-182 chr7: 129197463 T Dominant 453 early-stage and 526 late-stage nsclc cases in a caucasian population EFO_0003060 N/A Increasing risk Non-small cell lung cancer chr7: 129197463-T of hsa-mir-182 and its dysfunction is significantly associated with the increasing risk of non-small cell lung cancer by using case-control analysis in 453 early-stage and 526 late-stage NSCLC cases in a Caucasian population. 0.4 Polymorphisms in MicroRNAs are associated with survival in non-small cell lung cancer. case-control analysis hsa-mir-182 miRNA Non-small cell lung cancer 0.33 N/A N/A N/A N/A N/A N/A NCRV0000001251 26561523 NONHSAT003744.2 rs1892534 T N/A 120,246 european ancestry individuals EFO_0004623 N/A Associate Fibrinogen levels rs1892534-T of NONHSAT003744.2 is significantly associated with the fibrinogen levels by using GWAS analysis in 120,246 european ancestry individuals(p-value = 4E-15 ;OR = 0.0073). 0.4 A meta-analysis of 120 246 individuals identifies 18 new loci for fibrinogen concentration. genome-wide association analysis NONHSAT003744.2 lncRNA Fibrinogen measurement 0.33 GCTGATGGAT(C > T)AAGACATACT chr1: 65640261 0.4661,0.5339 0.55370795107033639,0.44629204892966360 Region score:0.29; TSS score:0.71; Unmatched score:0.7; Average GERP:-1.211846534653465 GeneName:LEPR; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000116678; TranscriptID:ENST00000349533; AnnoType:3PRIME_UTR; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001252 25673413 NONHSAT069699.2 rs11126666 A N/A up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals EFO_0001073 N/A Associate Body mass index rs11126666-A of NONHSAT069699.2 is significantly associated with the body mass index by using GWAS analysis in up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals(p-value = 1E-9 ;OR = 0.021). 0.4 Genetic studies of body mass index yield new insights for obesity biology. genome-wide association analysis NONHSAT069699.2 lncRNA Obesity 0.451 AGCAGTTGCT(G > A)GAACCAGAGT chr2: 26705943 0.6827,0.3173 0.73157970183486238,0.26842029816513761 Region score:0.27; TSS score:0.28; Unmatched score:0.12; Average GERP:-1.0624990099009899 GeneName:KCNK3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000171303; TranscriptID:ENST00000302909; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000600419; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001252 28892062 NONHSAT069699.2 rs11126666 A N/A up to 72,390 japanese ancestry women//up to 85,894 japanese ancestry men; up to 10,048 japanese ancestry women//up to 5,098 japanese ancestry men//up to 181,999 european ancestry women//up to 140,155 european ancestry controls EFO_0001073 N/A Associate Body mass index rs11126666-A of NONHSAT069699.2 is significantly associated with the body mass index by using GWAS analysis in up to 72,390 japanese ancestry women//up to 85,894 japanese ancestry men; up to 10,048 japanese ancestry women//up to 5,098 japanese ancestry men//up to 181,999 european ancestry women//up to 140,155 european ancestry controls(p-value = 1E-13 ;OR = 0.019). 0.4 Genome-wide association study identifies 112 new loci for body mass index in the Japanese population. genome-wide association analysis NONHSAT069699.2 lncRNA Obesity 0.451 AGCAGTTGCT(G > A)GAACCAGAGT chr2: 26705943 0.6827,0.3173 0.73157970183486238,0.26842029816513761 Region score:0.27; TSS score:0.28; Unmatched score:0.12; Average GERP:-1.0624990099009899 GeneName:KCNK3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000171303; TranscriptID:ENST00000302909; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000600419; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001253 24816252 NONHSAT108190.2 rs1185567 A N/A up to 5,591 european ancestry individuals; up to 1,767 european ancestry individuals EFO_0005664 N/A Associate Blood metabolite ratios rs1185567-A of NONHSAT108190.2 is significantly associated with the blood metabolite ratios by using GWAS analysis in up to 5,591 european ancestry individuals; up to 1,767 european ancestry individuals(p-value = 1E-26 ;OR = 0.028). 0.4 An atlas of genetic influences on human blood metabolites. genome-wide association analysis NONHSAT108190.2 lncRNA Blood metabolite measurement 0.33 GATGCTAGAT(A > G,T)TTCCGAGCTC chr6: 25818360 0.2833,0.7167,. 0.32255829510703363,0.67494106778797145,0.00250063710499490 Region score:0.14; TSS score:0.1; Unmatched score:0.08; Average GERP:-0.5219039603960397 GeneName:SLC17A1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000124568; TranscriptID:ENST00000244527; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001254 28703135 NONHSAT158562.1 rs11200638 A N/A 377 thai ancestry cases//1,074 thai ancestry controls; 222 thai ancestry cases//623 thai ancestry controls EFO_0001365 N/A Associate Neovascular age-related macular degeneration rs11200638-A of NONHSAT158562.1 is significantly associated with the neovascular age-related macular degeneration by using GWAS analysis in 377 thai ancestry cases//1,074 thai ancestry controls; 222 thai ancestry cases//623 thai ancestry controls(p-value = 5E-17 ;OR = 2.12). 0.4 Genome-wide association study of neovascular age-related macular degeneration in the Thai population. genome-wide association analysis NONHSAT158562.1 lncRNA Age-related macular degeneration 0.451 GCCTTCGTCC(G > A)GCCGCAGAGG chr10: 122461028 0.7105,0.2895 0.75868055555555555,0.24131944444444444 Region score:0.71; TSS score:0.79; Unmatched score:0.97; Average GERP:-0.14537920792079206 GeneName:ARMS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000254636; TranscriptID:ENST00000528446; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:BX842242.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000285955; TranscriptID:ENST00000650300; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HTRA1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000166033; TranscriptID:ENST00000368984; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000034579; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001254 17053108 NONHSAT158562.1 rs11200638 A N/A 96 south east asian ancestry cases//130 south east asian ancestry controls EFO_0001365 N/A Associate Age-related macular degeneration (wet) rs11200638-A of NONHSAT158562.1 is significantly associated with the age-related macular degeneration (wet) by using GWAS analysis in 96 south east asian ancestry cases//130 south east asian ancestry controls(p-value = 8E-12 ;OR = 1.6). 0.4 HTRA1 promoter polymorphism in wet age-related macular degeneration. genome-wide association analysis NONHSAT158562.1 lncRNA Age-related macular degeneration 0.451 GCCTTCGTCC(G > A)GCCGCAGAGG chr10: 122461028 0.7105,0.2895 0.75868055555555555,0.24131944444444444 Region score:0.71; TSS score:0.79; Unmatched score:0.97; Average GERP:-0.14537920792079206 GeneName:ARMS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000254636; TranscriptID:ENST00000528446; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:BX842242.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000285955; TranscriptID:ENST00000650300; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HTRA1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000166033; TranscriptID:ENST00000368984; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000034579; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001255 27328823 mir-4752 rs4112253 C N/a 17,008 ad cases and 37,154 controls EFO_0000249 N/A Decreasing risk Alzheimer's disease rs4112253-C of mir-4752 and its dysfunction is significantly associated with the decreasing risk of Alzheimer's disease by using case-control analysis in 17,008 AD cases and 37,154 controls. 0.4 Genome-wide identification of microRNA-related variants associated with risk of Alzheimer's disease. case-control analysis hsa-mir-4752 miRNA Alzheimers disease 0.33 TCTTCAGATG(G > C,T)ACAAGGAGAC chr19: 54282167 0.8153,0.1847,. 0.74491112385321100,0.25505702089704383,0.00003185524974515 Region score:0.4; TSS score:0.39; Unmatched score:0.63; Average GERP:-0.09612871287128734 GeneName:LILRB2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000131042; TranscriptID:ENST00000391749; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR4752; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000264703; TranscriptID:ENST00000579672; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001256 28270201 NONHSAT215396.1 rs4841133 G N/A 19,259 british ancestry individuals from 6863 families. EFO_0000319 N/A Associate Cholesterol//total rs4841133-G of NONHSAT215396.1 is significantly associated with the cholesterol//total by using GWAS analysis in 19,259 british ancestry individuals from 6863 families.(p-value = 3E-9 ;OR = 0.11155177). 0.4 Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants. genome-wide association analysis NONHSAT215396.1 lncRNA Cardiovascular disease 0.33 GATGGCCAAC(A > G)GCCATTTCCA chr8: 9326154 0.1138,0.8862 0.12039691641182466,0.87960308358817533 Region score:0.45; TSS score:0.4; Unmatched score:0.63; Average GERP:-0.6292346534653465 GeneName:AC022784.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000248538; TranscriptID:ENST00000520390; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0161; mirSVR-E:-16.73 | NCRV0000001257 22778062 SNORD114-3 rs79074703 T N/A N/A function N/A not significant changes in the structure function rs79074703-T of SNORD114-3 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in nan -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD114-3 snoRNA function -0.049 GAGTCATGGA(C > A,T)GATGAATACT chr14: 100953388 0.999,.,0.0009984 0.99667909021406727,.,0.00332090978593272 Region score:0.49; TSS score:0.18; Unmatched score:0.63; Average GERP:-0.19684357142857137 GeneName:MEG8; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000225746; TranscriptID:ENST00000638012; AnnoType:INTRONIC; mirSVR-Score:-0.4085; mirSVR-E:-17.31 | GeneName:RF00181; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000200150; TranscriptID:ENST00000363280; AnnoType:UPSTREAM; mirSVR-Score:-0.4085; mirSVR-E:-17.31 | GeneName:SNORD114-1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000199575; TranscriptID:ENST00000362705; AnnoType:DOWNSTREAM; mirSVR-Score:-0.4085; mirSVR-E:-17.31 | GeneName:SNORD114-2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000200823; TranscriptID:ENST00000363953; AnnoType:DOWNSTREAM; mirSVR-Score:-0.4085; mirSVR-E:-17.31 | GeneName:SNORD114-3; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000201839; TranscriptID:ENST00000364969; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.4085; mirSVR-E:-17.31 | GeneName:SNORD114-4; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000200832; TranscriptID:ENST00000363962; AnnoType:UPSTREAM; mirSVR-Score:-0.4085; mirSVR-E:-17.31 | GeneName:SNORD114-5; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000199798; TranscriptID:ENST00000362928; AnnoType:UPSTREAM; mirSVR-Score:-0.4085; mirSVR-E:-17.31 | GeneName:SNORD114-6; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000201263; TranscriptID:ENST00000364393; AnnoType:UPSTREAM; mirSVR-Score:-0.4085; mirSVR-E:-17.31 | NCRV0000001258 27863252 NONHSAT207135.1 rs2856816 C N/A 170,536 european ancestry individuals EFO_0007996 N/A Associate Eosinophil percentage of granulocytes rs2856816-C of NONHSAT207135.1 is significantly associated with the eosinophil percentage of granulocytes by using GWAS analysis in 170,536 european ancestry individuals(p-value = 7E-15 ;OR = 0.04810228). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT207135.1 lncRNA Eosinophil percentage of granulocytes 0.33 TGACTTCCAC(T > C)TTTCCTGCTT chr6: 33077723 0.7192,0.2808 0.77285614169215086,0.22714385830784913 Region score:0.24; TSS score:0.5; Unmatched score:0.42; Average GERP:-0.11250653465346519 GeneName:HLA-DPA1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000231389; TranscriptID:ENST00000419277; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HLA-DPB1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000223865; TranscriptID:ENST00000418931; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000195744; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RPL32P1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000224796; TranscriptID:ENST00000439737; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001259 27863252 NONHSAT144156.2 rs6540234 C N/A 170,721 european ancestry individuals EFO_0005091 N/A Associate Monocyte count rs6540234-C of NONHSAT144156.2 is significantly associated with the monocyte count by using GWAS analysis in 170,721 european ancestry individuals(p-value = 5E-57 ;OR = 0.06294797). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT144156.2 lncRNA Monocyte count 0.33 TGTGAAACAC(T > C)ATGCCCGGTA chr16: 85949450 0.1867,0.8133 0.21970565749235474,0.78029434250764525 Region score:0.29; TSS score:0.32; Unmatched score:0.17; Average GERP:0.035009900990098965 GeneName:AC092723.5; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000285163; TranscriptID:ENST00000646986; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001260 30219045 H19 rs2735469 T N/a 556 female never smoking lung cancer patients and 395 cancer-free controls EFO_0001071 N/A No significance for risk Lung cancer rs2735469-T of H19 and its dysfunction is not significantly associated with lung cancer by using case-control analysis in 556 female never smoking lung cancer patients and 395 cancer-free controls. -0.4 Polymorphisms in the H19 gene and the risk of lung Cancer among female never smokers in Shenyang, China. case-control analysis H19 lncRNA Lung cancer -0.33 TGTTGGCCAG(A > G)TGTACAGATT chr11: 2001574 N/A 1 Region score:0.53; TSS score:0.56; Unmatched score:0.81; Average GERP:-1.421068316831683 GeneName:H19; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000130600; TranscriptID:ENST00000414790; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR675; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284010; TranscriptID:ENST00000390168; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01972; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000275266; TranscriptID:ENST00000617997; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01973; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000274866; TranscriptID:ENST00000620857; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001261 24025145 NONHSAT201010.1 rs6845621 C N/A 64 japanese ancestry cases//27 japanese ancestry controls EFO_0000305 cyclophosphamide+doxorubicin+/-5FU Associate Adverse response to chemotherapy in breast cancer (alopecia) rs6845621-C of NONHSAT201010.1 is significantly associated with the adverse response to chemotherapy in breast cancer (alopecia) by using GWAS analysis in 64 japanese ancestry cases//27 japanese ancestry controls(p-value = 2E-6 ;OR = 5.53). 0.4 A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients. genome-wide association analysis NONHSAT201010.1 lncRNA Breast cancer 0.33 N/A N/A N/A N/A N/A N/A NCRV0000001262 29304813 miR-218 rs11134527 G N/a 287 myocardial infarction cases and 646 control subjects EFO_0000612 N/A No significance for risk Myocardial infarction rs11134527-G of miR-218 and its dysfunction is not significantly associated with myocardial infarction by using case-control analysis in 287 myocardial infarction cases and 646 control subjects. -0.4 The association between pre-miR-27a rs895819 polymorphism and myocardial infarction risk in a Chinese Han population. case-control analysis hsa-mir-218-1 miRNA Myocardial infarction -0.33 CCCACTGAGC(G > A)TGATTAGTAT chr5: 168768351 0.6538,0.3462 0.73466966106014271,0.26533033893985728 Region score:0.45; TSS score:0.35; Unmatched score:0.39; Average GERP:2.739732673267328 GeneName:MIR218-2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207739; TranscriptID:ENST00000385006; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SLIT3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000184347; TranscriptID:ENST00000332966; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001263 21051598 NONHSAT207105.1 rs2255221 T N/A 516 european cases//1,196 european controls//341 african american cases//892 african american controls//117 hispanic cases//560 hispanic controls EFO_0000180 N/A Associate Hiv-1 control rs2255221-T of NONHSAT207105.1 is significantly associated with the hiv-1 control by using GWAS analysis in 516 european cases//1,196 european controls//341 african american cases//892 african american controls//117 hispanic cases//560 hispanic controls(p-value = 4E-14 ;OR = 2.7). 0.4 The major genetic determinants of HIV-1 control affect HLA class I peptide presentation. genome-wide association analysis NONHSAT207105.1 lncRNA Hiv-1 infection 0.33 CCTCCTCCTG(G > T)GGATCAGGAT chr6: 31463914 0.9163,0.08367 0.89681288226299694,0.10318711773700305 Region score:0.29; TSS score:0.36; Unmatched score:0.86; Average GERP:0 GeneName:AL645933.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000233902; TranscriptID:ENST00000440087; AnnoType:UPSTREAM; mirSVR-Score:-0.0331; mirSVR-E:-19.81 | GeneName:HCP5; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000206337; TranscriptID:ENST00000414046; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0331; mirSVR-E:-19.81 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000195544; AnnoType:REGULATORY; mirSVR-Score:-0.0331; mirSVR-E:-19.81 | NCRV0000001264 27717891 miR-155 rs767649 T Recessive 1157 cervical cancer cases and 1280 controls EFO_0001061 N/A Decreasing risk Cervical cancer rs767649-T of miR-155 and its dysfunction is significantly associated with the decreasing risk of cervical cancer by using case-control analysis in 1157 cervical cancer cases and 1280 controls. 0.4 The rs767649 polymorphism in the promoter of miR-155 contributes to the decreased risk for cervical cancer in a Chinese population. case-control analysis hsa-mir-155 miRNA Cervical cancer 0.33 AAAAACACTG(T > A)CACTTTTCTG chr21: 25572410 0.852,0.148 0.91390322375127420,0.08609677624872579 Region score:0.3; TSS score:0.43; Unmatched score:0.61; Average GERP:0.280691089108911 GeneName:MIR155; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000283904; TranscriptID:ENST00000385060; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR155HG; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000234883; TranscriptID:ENST00000456917; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001265 29083406 NONHSAT209018.1 rs10947428 C N/A 180,129 european ancestry cases//180,709 european ancestry controls EFO_0003785 N/A Associate Allergic disease (asthma//hay fever or eczema) rs10947428-C of NONHSAT209018.1 is significantly associated with the allergic disease (asthma//hay fever or eczema) by using GWAS analysis in 180,129 european ancestry cases//180,709 european ancestry controls(p-value = 4E-13 ;OR = 1.046). 0.4 Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology. genome-wide association analysis NONHSAT209018.1 lncRNA Allergy 0.33 TAGTAGGTTC(T > C)CAACAGACAC chr6: 33679281 0.7937,0.2063 0.74011690876656472,0.25988309123343527 Region score:0.23; TSS score:0.29; Unmatched score:0.24; Average GERP:-0.501859405940594 GeneName:ITPR3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000096433; TranscriptID:ENST00000374316; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001266 27863252 NONHSAT010798.2 rs3811444 T N/A 172,435 european ancestry individuals EFO_0004308 N/A Associate White blood cell count rs3811444-T of NONHSAT010798.2 is significantly associated with the white blood cell count by using GWAS analysis in 172,435 european ancestry individuals(p-value = 2E-9 ;OR = 0.02284256). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT010798.2 lncRNA Leukocyte count 0.33 GGGGAAACCA(C > T)GCCATCTCCT chr1: 247876149 0.7726,0.2274 0.74839927370030581,0.25160072629969418 Region score:0.13; TSS score:0.23; Unmatched score:0.34; Average GERP:0.6634764356435642 GeneName:TRIM58; CADD-Score:7; Consquence:missense; GeneID:ENSG00000162722; TranscriptID:ENST00000366481; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001267 24578125 NONHSAT172748.1 rs12446492 A N/A 10,884 european ancestry individuals EFO_0005663 N/A Associate Urinary uromodulin levels rs12446492-A of NONHSAT172748.1 is significantly associated with the urinary uromodulin levels by using GWAS analysis in 10,884 european ancestry individuals(p-value = 6E-27 ;OR = 0.15). 0.4 Common variants in UMOD associate with urinary uromodulin levels: a meta-analysis. genome-wide association analysis NONHSAT172748.1 lncRNA Urinary uromodulin measurement 0.33 TTATTACGCA(T > A)CAGTCACTGT chr16: 20397055 0.4229,0.5771 0.50050968399592252,0.49949031600407747 Region score:0.21; TSS score:0.2; Unmatched score:0.24; Average GERP:-0.6083514851485143 GeneName:PDILT; CADD-Score:2; Consquence:intron; GeneID:ENSG00000169340; TranscriptID:ENST00000302451; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001268 25337271 miR-218 rs11134527 G Recessive 706 pathologically confirmed escc patients and 745 controls EFO_0005922 N/A Decreased risk and better prognosis Esophageal squamous cell carcinoma rs11134527-G of miR-218 and its dysfunction is significantly associated with the decreasing risk and better prognosis of esophageal squamous cell carcinoma by using case-control analysis in 706 pathologically confirmed ESCC patients and 745 controls. 0.4 The impact of pri-miR-218 rs11134527 on the risk and prognosis of patients with esophageal squamous cell carcinoma. case-control analysis hsa-mir-218-1 miRNA Esophageal squamous cell cancer 0.33 CCCACTGAGC(G > A)TGATTAGTAT chr5: 168768351 0.6538,0.3462 0.73466966106014271,0.26533033893985728 Region score:0.45; TSS score:0.35; Unmatched score:0.39; Average GERP:2.739732673267328 GeneName:MIR218-2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207739; TranscriptID:ENST00000385006; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SLIT3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000184347; TranscriptID:ENST00000332966; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001269 19851984 miR-608 rs4919510 G N/a 141 opl patients and 136 matched controls EFO_0006566 N/A No significance for risk Oral premalignant lesions rs4919510-G of miR-608 and its dysfunction is not significantly associated with oral premalignant lesions by using case-control analysis in 141 OPL patients and 136 matched controls. -0.4 Genetic variation in MicroRNA genes and risk of oral premalignant lesions. case-control analysis hsa-mir-608 miRNA Dysplastic oral keratinocyte -0.33 TGGGACAGCT(C > G)CGTTTAAAAA chr10: 100975021 0.6362,0.3638 0.70305332568807339,0.29694667431192660 Region score:0.54; TSS score:0.1; Unmatched score:0.51; Average GERP:-0.18896138613861369 GeneName:MIR608; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207551; TranscriptID:ENST00000384820; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MRPL43; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000055950; TranscriptID:ENST00000318325; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SEMA4G; CADD-Score:2; Consquence:intron; GeneID:ENSG00000095539; TranscriptID:ENST00000210633; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001270 27989323 NONHSAT093840.2 rs1656939 T N/A 3,636 finnish ancestry individuals EFO_0005140 N/A Associate Interleukin-18 levels rs1656939-T of NONHSAT093840.2 is significantly associated with the interleukin-18 levels by using GWAS analysis in 3,636 finnish ancestry individuals(p-value = 2E-6 ;OR = 0.1132). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. genome-wide association analysis NONHSAT093840.2 lncRNA Autoimmune disease 0.33 CTTTGCTGAA(A > C,T)GACTGGAAGC chr3: 186714955 0.4587,.,0.5413 0.48740921253822629,0.00000796381243628,0.51258282364933741 Region score:0.28; TSS score:0.24; Unmatched score:0.36; Average GERP:0.2142431683168316 GeneName:AC068631.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000197099; TranscriptID:ENST00000627551; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:KNG1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000113889; TranscriptID:ENST00000644859; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001271 27182965 NONHSAT209134.1 rs10223666 ? N/A 17,558 european ancestry cases//117,083 european ancestry controls EFO_0004705 N/A Associate Hypothyroidism rs10223666-? of NONHSAT209134.1 is significantly associated with the hypothyroidism by using GWAS analysis in 17,558 european ancestry cases//117,083 european ancestry controls(p-value = 5E-10 ;OR = 1.0905125). 0.4 Detection and interpretation of shared genetic influences on 42 human traits. genome-wide association analysis NONHSAT209134.1 lncRNA Hypothyroidism 0.33 AATCCATGCC(G > A,C)CATTTCTGTG chr6: 43837765 0.2622,.,0.7378 0.27306320081549439,0.00309792303771661,0.72383887614678899 Region score:0.32; TSS score:0.41; Unmatched score:0.29; Average GERP:-0.36862376237623784 GeneName:AL157371.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000283573; TranscriptID:ENST00000637813; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000197198; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000791159; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001272 23381795 NONHSAT206828.1 rs5370 T N/A 3,444 european ancestry individuals; 3,230 european ancestry individuals EFO_0005196 N/A Associate Circulating vasoactive peptide levels rs5370-T of NONHSAT206828.1 is significantly associated with the circulating vasoactive peptide levels by using GWAS analysis in 3,444 european ancestry individuals; 3,230 european ancestry individuals(p-value = 1E-27 ;OR = 2.955). 0.4 Genome-wide association study on plasma levels of midregional-proadrenomedullin and C-terminal-pro-endothelin-1. genome-wide association analysis NONHSAT206828.1 lncRNA Vasoactive peptide measurement 0.33 TGAAAGGCAA(G > T)CCCTCCAGAG chr6: 12296022 0.7526,0.2474 0.78750955657492354,0.21249044342507645 Region score:0.24; TSS score:0.43; Unmatched score:0.53; Average GERP:2.0381188118811897 GeneName:EDN1; CADD-Score:7; Consquence:missense; GeneID:ENSG00000078401; TranscriptID:ENST00000379375; AnnoType:NON_SYNONYMOUS; mirSVR-Score:-0.2001; mirSVR-E:-18.94 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000783304; AnnoType:REGULATORY; mirSVR-Score:-0.2001; mirSVR-E:-18.94 | NCRV0000001273 27089181 NONHSAT157765.1 rs3923857 A N/A 170,911 european ancestry individuals EFO_0007660 N/A Associate Neuroticism rs3923857-A of NONHSAT157765.1 is significantly associated with the neuroticism by using GWAS analysis in 170,911 european ancestry individuals(p-value = 6E-6 ;OR = 0.016911833). 0.4 Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses. genome-wide association analysis NONHSAT157765.1 lncRNA Neuroticism measurement 0.33 TGCCAAGGAT(G > A)TGGGAGAGCA chr10: 132391851 0.6464,0.3536 0.67378631498470948,0.32621368501529051 Region score:0.38; TSS score:0.37; Unmatched score:0.34; Average GERP:-0.25801380434782617 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001274 17900631 miR-192 rs528920813 A Dominant 96 HCC tissues EFO_0000182 N/A increasing risk hepatocellular carcinoma rs528920813-A of hsa-mir-192 and its dysfunction is significantly associated with the increasing risk of Hepatocellular carcinoma by using analysis of sequence variation in 96 HCC tissues 0.4 Analysis of sequence variations in 59 microRNAs in hepatocellular carcinomas. analysis of sequence variation hsa-mir-192 miRNA Hepatocellular carcinoma 0.33 GCCTGGGAGC(G > A)TCGCCACGGT chr11: 64891294 0.9996,0.0003994 0.99993628950050968,0.00006371049949031 - GeneName:ATG2A; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000110046; TranscriptID:ENST00000377264; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:EHD1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000110047; TranscriptID:ENST00000457202; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR192; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000283926; TranscriptID:ENST00000384915; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR194-2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000284155; TranscriptID:ENST00000384864; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR194-2HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000229719; TranscriptID:ENST00000413053; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000432508; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001275 28604730 NONHSAT067101.2 rs681343 T N/A 11,273 european ancestry cases// 55,483 european ancestry controls EFO_0000571 N/A Associate Lung adenocarcinoma rs681343-T of NONHSAT067101.2 is significantly associated with the lung adenocarcinoma by using GWAS analysis in 11,273 european ancestry cases// 55,483 european ancestry controls(p-value = 5E-6 ;OR = 1.0764673). 0.4 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. genome-wide association analysis NONHSAT067101.2 lncRNA Lung adenocancer 0.33 CCACACTGTA(C > A,T)GCCCTGGCCA chr19: 48703205 0.6783,.,0.3217 0.56128950050968399,0.00000796381243628,0.43870253567787971 Region score:0.19; TSS score:0.28; Unmatched score:0.41; Average GERP:1.4441435643564355 GeneName:FUT2; CADD-Score:5; Consquence:synonymous; GeneID:ENSG00000176920; TranscriptID:ENST00000425340; AnnoType:SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:FUT2; CADD-Score:8; Consquence:stop_gained; GeneID:ENSG00000176920; TranscriptID:ENST00000425340; AnnoType:STOP_GAINED; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001276 27863252 NONHSAT219044.1 rs73381355 T N/A 172,332 european ancestry individuals EFO_0004527 N/A Associate Mean corpuscular hemoglobin rs73381355-T of NONHSAT219044.1 is significantly associated with the mean corpuscular hemoglobin by using GWAS analysis in 172,332 european ancestry individuals(p-value = 2E-10 ;OR = 0.04238021). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT219044.1 lncRNA Mean corpuscular hemoglobin 0.33 GTCCAGAGAA(G > T)GAAGTCAAAG chr8: 144126114 0.9121,0.08786 0.89193902905198776,0.10806097094801223 Region score:0.39; TSS score:0.48; Unmatched score:0.29; Average GERP:-0.21253298969072168 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000333988; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001277 28588231 NONHSAT192261.1 rs117086479 G N/A 7,550 european ancestry individuals; 8,790 european ancestry individuals//2,030 african american individuals EFO_0000400 N/A Associate 1,5-anhydroglucitol levels rs117086479-G of NONHSAT192261.1 is significantly associated with the 1,5-anhydroglucitol levels by using GWAS analysis in 7,550 european ancestry individuals; 8,790 european ancestry individuals//2,030 african american individuals(p-value = 6E-13 ;OR = 7.21). 0.4 Genome-wide association study of 1,5-anhydroglucitol identifies novel genetic loci linked to glucose metabolism. genome-wide association analysis NONHSAT192261.1 lncRNA Diabetes mellitus 0.33 AAAAAAAAAA(A > G)AAAAAAAAAG chr22: 31993355 0.9742,0.02576 0.95651758409785932,0.04348241590214067 Region score:0.26; TSS score:0.06; Unmatched score:0; Average GERP:0.014645161290322601 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001278 21886157 NONHSAT083312.2 rs2023634 G N/A 2,820 european ancestry individuals EFO_0004725 N/A Associate Metabolic traits rs2023634-G of NONHSAT083312.2 is significantly associated with the metabolic traits by using GWAS analysis in 2,820 european ancestry individuals(p-value = 2E-22 ;OR = 0.113). 0.4 Human metabolic individuality in biomedical and pharmaceutical research. genome-wide association analysis NONHSAT083312.2 lncRNA Metabolite measurement 0.33 TCCCTGCCTT(A > G)GCGTCTTGAG chr22: 18984937 0.9505,0.04952 0.92025038226299694,0.07974961773700305 Region score:0.22; TSS score:0.32; Unmatched score:0.56; Average GERP:-0.10302970297029698 GeneName:AC007326.3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000283583; TranscriptID:ENST00000636418; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:DGCR5; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000237517; TranscriptID:ENST00000438934; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:DGCR9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000273032; TranscriptID:ENST00000609630; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001279 28732738 miR-125a rs12976445 C Recessive 262 cases (chronic periodontitis patients) and 288 controls (individuals with healthy gingiva) EFO_0006343 N/A increasing risk chronic periodontitis rs12976445-C of hsa-mir-125a and its dysfunction is significantly associated with the increasing risk of Chronic periodontitis by using case-control analysis in 262 cases (chronic periodontitis patients) and 288 controls (individuals with healthy gingiva) 0.4 Association of microRNA-125a and microRNA-499a polymorphisms in chronic periodontitis in a sample south Indian population: A hospital-based genetic association study. case-control analysis hsa-mir-125a miRNA Chronic periodontitis 0.33 TCTCTGTGCC(T > C)ATCTCCATCT chr19: 51693200 0.4349,0.5651 0.53015099388379204,0.46984900611620795 Region score:0.17; TSS score:0.49; Unmatched score:0.61; Average GERP:-0.9224930693069308 GeneName:MIR125A; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000208008; TranscriptID:ENST00000385273; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR99B; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207550; TranscriptID:ENST00000384819; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIRLET7E; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000198972; TranscriptID:ENST00000362102; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SPACA6; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000182310; TranscriptID:ENST00000637797; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SPACA6P-AS; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000269959; TranscriptID:ENST00000602324; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001280 28240269 NONHSAT176909.1 rs9904601 A N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0008051 N/A Associate Blood protein levels rs9904601-A of NONHSAT176909.1 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 1E-17 ;OR = 0.5713). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. genome-wide association analysis NONHSAT176909.1 lncRNA C-c motif chemokine 3 measurement 0.33 GTCCCCATTC(G > A,T)ATCATTTTAA chr17: 36044969 N/A 0.86010767074413863,0.12454606269113149,0.01534626656472986 Region score:0.41; TSS score:0.25; Unmatched score:0.04; Average GERP:-0.427534693877551 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000554278; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001281 20932310 NONHSAT189111.1 rs4925189 G N/A 172 european ancestry alzheimer's disease cases//109 european ancestry mild cognitive impairment cases//109 european ancestry controls EFO_0000249 N/A Associate Cerebrospinal t-tau levels rs4925189-G of NONHSAT189111.1 is significantly associated with the cerebrospinal t-tau levels by using GWAS analysis in 172 european ancestry alzheimer's disease cases//109 european ancestry mild cognitive impairment cases//109 european ancestry controls(p-value = 6E-7 ;OR = ?). 0.4 Genome-wide association reveals genetic effects on human Abeta42 and tau protein levels in cerebrospinal fluids: a case control study. genome-wide association analysis NONHSAT189111.1 lncRNA Alzheimers disease 0.33 CGGGCAGGCC(G > A,T)CTTGTGTTTG chr20: 61371988 0.2027,0.7973,. 0.26349866207951070,0.73365825688073394,0.00284308103975535 Region score:0.28; TSS score:0.3; Unmatched score:0.17; Average GERP:-0.6409999999999999 GeneName:BX640515.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000276786; TranscriptID:ENST00000617215; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CDH4; CADD-Score:2; Consquence:intron; GeneID:ENSG00000179242; TranscriptID:ENST00000614565; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000656855; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001282 22818121 miR-423 rs6505162 A N/a 388 patients with nsclc EFO_0003060 N/A No significance for risk Non-small cell lung cancer rs6505162-A of miR-423 and its dysfunction is not significantly associated with non-small cell lung cancer by using analysis of sequence variation in 388 patients with NSCLC. -0.4 The prognostic impact of microRNA sequence polymorphisms on the recurrence of patients with completely resected non-small cell lung cancer. analysis of sequence variation hsa-mir-423 miRNA Non-small cell lung cancer -0.33 TTGCTTCCTA(A > C,T)CCCGCGCTTG chr17: 30117165 0.5022,0.4978,. 0.57055937818552497,0.42940876656472986,0.00003185524974515 Region score:0.43; TSS score:0.32; Unmatched score:0.93; Average GERP:3.269841584158416 GeneName:AC104984.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000265394; TranscriptID:ENST00000582938; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC104984.5; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000266919; TranscriptID:ENST00000586878; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3184; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284399; TranscriptID:ENST00000637796; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR423; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000283935; TranscriptID:ENST00000362201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000092957; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NSRP1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000126653; TranscriptID:ENST00000247026; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001283 27005778 NONHSAT063038.2 rs72999033 T N/A 2,118 erasmus rucphen (founder/genetic isolate)//22,807 european ancestry individuals EFO_0004732 N/A Associate Metabolite levels (lipoprotein measures) rs72999033-T of NONHSAT063038.2 is significantly associated with the metabolite levels (lipoprotein measures) by using GWAS analysis in 2,118 erasmus rucphen (founder/genetic isolate)//22,807 european ancestry individuals(p-value = 1E-16 ;OR = 0.18). 0.4 Genome-wide study for circulating metabolites identifies 62 loci and reveals novel systemic effects of LPA. genome-wide association analysis NONHSAT063038.2 lncRNA Lipoprotein measurement 0.33 GGTCCCAAAA(C > T)TCAGAGATAG chr19: 19255823 0.9738,0.02616 0.96145514780835881,0.03854485219164118 Region score:0.4; TSS score:0.85; Unmatched score:0.78; Average GERP:-0.684779207920792 GeneName:AC138430.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000267629; TranscriptID:ENST00000586064; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.1288; mirSVR-E:-32.73 | GeneName:AC138430.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000280282; TranscriptID:ENST00000624068; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.1288; mirSVR-E:-32.73 | GeneName:HAPLN4; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000187664; TranscriptID:ENST00000291481; AnnoType:3PRIME_UTR; mirSVR-Score:-0.1288; mirSVR-E:-32.73 | GeneName:NCAN; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000130287; TranscriptID:ENST00000252575; AnnoType:DOWNSTREAM; mirSVR-Score:-0.1288; mirSVR-E:-32.73 | NCRV0000001284 25673459 miR-124a rs531564 C N/A 995 patients newly diagnosed with T2DM and 967 controls within younger subjects (age < 45 years) EFO_0001360 N/A decreasing risk type II diabetes mellitus rs531564-C of hsa-mir-124-1 and its dysfunction is significantly associated with the decreasing risk of Type ii diabetes mellitus by using case-control analysis in 995 patients newly diagnosed with T2DM and 967 controls within younger subjects (age < 45 years) 0.4 Affection of single-nucleotide polymorphisms in miR-27a, miR-124a, and miR-146a on susceptibility to type 2 diabetes mellitus in Chinese Han people. case-control analysis hsa-mir-124-1 miRNA Type ii diabetes mellitus 0.33 CCCTGAGTCT(G > C)TTTGCATCTC chr8: 9903189 0.87,0.13 0.86338079765545361,0.13661920234454638 Region score:0.48; TSS score:0.58; Unmatched score:0.92; Average GERP:0.641257425742574 GeneName:LINC00599; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253230; TranscriptID:ENST00000517675; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR124-1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000284321; TranscriptID:ENST00000385275; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000847381; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001285 26098869 NONHSAT149606.1 rs351365 C N/A 7,638 cases//7,364 controls; 2,287 cases//4,205 controls EFO_0002618 N/A Associate Pancreatic cancer rs351365-C of NONHSAT149606.1 is significantly associated with the pancreatic cancer by using GWAS analysis in 7,638 cases//7,364 controls; 2,287 cases//4,205 controls(p-value = 7E-7 ;OR = 1.1235955). 0.4 Common variation at 2p13.3, 3q29, 7p13 and 17q25.1 associated with susceptibility to pancreatic cancer. genome-wide association analysis NONHSAT149606.1 lncRNA Pancreatic cancer 0.33 CTTAGACACA(T > C,G)AGAGAGACAA chr1: 112503773 0.2706,0.7294,. 0.27878918195718654,0.71730854994903160,0.00390226809378185 Region score:0.34; TSS score:0.52; Unmatched score:0.37; Average GERP:-1.028750495049505 GeneName:WNT2B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000134245; TranscriptID:ENST00000369686; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001286 29146194 MALAT1 rs3200401 T N/a 487 breast cancer? patients and 489 cancer-free controls in chinese han population EFO_0000305 N/A No significance for risk Breast cancer rs3200401-T of MALAT1 and its dysfunction is not significantly associated with breast cancer by using case-control analysis in 487 breast cancer? patients and 489 cancer-free controls in Chinese Han population. -0.4 Association analyses of genetic variants in long non-coding RNA MALAT1 with breast cancer susceptibility and mRNA expression of MALAT1 in Chinese Han population. case-control analysis MALAT1 lncRNA Breast cancer -0.33 GACTTCAGGT(C > T)TGTCTGTTCT chr11: 65504361 0.8568,0.1432 0.81981874362895005,0.18018125637104994 Region score:0.57; TSS score:0.67; Unmatched score:0.79; Average GERP:3.4488239999999992 GeneName:MALAT1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000251562; TranscriptID:ENST00000534336; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0079; mirSVR-E:-14.62 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000432700; AnnoType:REGULATORY; mirSVR-Score:-0.0079; mirSVR-E:-14.62 | GeneName:RF01684; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000274072; TranscriptID:ENST00000611300; AnnoType:UPSTREAM; mirSVR-Score:-0.0079; mirSVR-E:-14.62 | GeneName:RF01871; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000278217; TranscriptID:ENST00000618249; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0079; mirSVR-E:-14.62 | NCRV0000001287 28441456 NONHSAT155774.1 rs116924979 T N/A 2,187 european ancestry individuals EFO_0007845 N/A Associate Facial morphology (factor 17//height of vermillion upper lip) rs116924979-T of NONHSAT155774.1 is significantly associated with the facial morphology (factor 17//height of vermillion upper lip) by using GWAS analysis in 2,187 european ancestry individuals(p-value = 5E-6 ;OR = 0.5424). 0.4 Genome-wide association study of facial morphology reveals novel associations with FREM1 and PARK2. genome-wide association analysis NONHSAT155774.1 lncRNA Lip morphology measurement 0.33 CTTGGTAGAT(C > T)GTCCTTCATC chr10: 80639639 0.9946,0.005391 0.98999745158002038,0.01000254841997961 Region score:0.4; TSS score:0.23; Unmatched score:0.08; Average GERP:0 GeneName:SH2D4B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000178217; TranscriptID:ENST00000339284; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001288 21326311 NONHSAT203062.1 rs17135859 C N/A 440 african american individuals Orphanet_232 N/A Associate F-cell distribution rs17135859-C of NONHSAT203062.1 is significantly associated with the f-cell distribution by using GWAS analysis in 440 african american individuals(p-value = 8E-6 ;OR = 0.97). 0.4 Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients. genome-wide association analysis NONHSAT203062.1 lncRNA Sickle cell anemia 0.33 GTTTGGCTTC(T > C)AGGTACACAT chr5: 113660957 0.863,0.137 0.83356428389398572,0.16643571610601427 Region score:0.36; TSS score:0.23; Unmatched score:0.03; Average GERP:0.2600920792079208 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001289 25650003 miR-499 rs3746444 C Dominant Chinese uygur (n = 662), kazak (n = 612), and southern han (n = 654) populations EFO_1000049 N/A Increasing risk Pulmonary tuberculosis in the chinese uygur population rs3746444-C of miR-499 and its dysfunction is significantly associated with the increasing risk of pulmonary tuberculosis in the Chinese Uygur population by using case-control analysis in Chinese Uygur (n = 662), Kazak (n = 612), and Southern Han (n = 654) populations . 0.4 Association of the miR-146a, miR-149, miR-196a2 and miR-499 polymorphisms with susceptibility to pulmonary tuberculosis in the Chinese Uygur, Kazak and Southern Han populations. case-control analysis hsa-mir-499a miRNA Pulmonary tuberculosis 0.33 CCACGTGAAC(A > G)TCACAGCAAG chr20: 34990448 0.8165,0.1835 0.81708715596330275,0.18291284403669724 Region score:0.79; TSS score:0.85; Unmatched score:0.95; Average GERP:3.757564356435645 GeneName:MIR499A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207635; TranscriptID:ENST00000384903; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR499B; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283441; TranscriptID:ENST00000636498; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYH7B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000078814; TranscriptID:ENST00000262873; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001290 22174390 NONHSAT186671.1 rs6432018 ? N/A 472 european ancestry individuals from 99 families MONDO_0000992 N/A Associate Heart rate variability traits rs6432018-? of NONHSAT186671.1 is significantly associated with the heart rate variability traits by using GWAS analysis in 472 european ancestry individuals from 99 families(p-value = 8E-7 ;OR = ?). 0.4 Heritability of submaximal exercise heart rate response to exercise training is accounted for by nine SNPs. genome-wide association analysis NONHSAT186671.1 lncRNA Heart conduction disease 0.33 N/A N/A N/A N/A N/A N/A NCRV0000001291 27046643 NONHSAT089767.2 rs11130222 ? N/A 111,114 european ancestry individuals EFO_0004784 N/A Associate Educational attainment rs11130222-? of NONHSAT089767.2 is significantly associated with the educational attainment by using GWAS analysis in 111,114 european ancestry individuals(p-value = 4E-14 ;OR = 0.0324711). 0.4 Genome-wide association study of cognitive functions and educational attainment in UK Biobank (N=112 151). genome-wide association analysis NONHSAT089767.2 lncRNA Self reported educational attainment 0.451 CTCCCACCGC(A > T)GCTGGGATTA chr3: 49863627 0.765,0.235 0.67050522426095820,0.32949477573904179 Region score:0.42; TSS score:0.26; Unmatched score:0.47; Average GERP:0.08995049504950485 GeneName:CAMKV; CADD-Score:2; Consquence:intron; GeneID:ENSG00000164076; TranscriptID:ENST00000477224; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RN7SL217P; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000264706; TranscriptID:ENST00000584520; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001291 27225129 NONHSAT089767.2 rs11130222 A N/A 405,072 european ancestry individuals EFO_0004784 N/A Associate Educational attainment (years of education) rs11130222-A of NONHSAT089767.2 is significantly associated with the educational attainment (years of education) by using GWAS analysis in 405,072 european ancestry individuals(p-value = 4E-28 ;OR = 0.024812652). 0.4 Genome-wide association study identifies 74 loci associated with educational attainment. genome-wide association analysis NONHSAT089767.2 lncRNA Self reported educational attainment 0.451 CTCCCACCGC(A > T)GCTGGGATTA chr3: 49863627 0.765,0.235 0.67050522426095820,0.32949477573904179 Region score:0.42; TSS score:0.26; Unmatched score:0.47; Average GERP:0.08995049504950485 GeneName:CAMKV; CADD-Score:2; Consquence:intron; GeneID:ENSG00000164076; TranscriptID:ENST00000477224; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RN7SL217P; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000264706; TranscriptID:ENST00000584520; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001292 22890011 NONHSAT211650.1 rs10952132 T N/A 817 european ancestry individuals GO_1901557 N/A Associate Response to fenofibrate rs10952132-T of NONHSAT211650.1 is significantly associated with the response to fenofibrate by using GWAS analysis in 817 european ancestry individuals(p-value = 1E-6 ;OR = 0.31). 0.4 Genome-wide association study indicates variants associated with insulin signaling and inflammation mediate lipoprotein responses to fenofibrate. genome-wide association analysis NONHSAT211650.1 lncRNA Response to fenofibrate 0.33 GATTTTTACC(C > A,T)TTCAACCATA chr7: 9027190 0.7843,.,0.2157 0.78576548165137614,0.00003185524974515,0.21420266309887869 Region score:0.24; TSS score:0.16; Unmatched score:0.02; Average GERP:-0.0563132673267327 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001293 24978643 MIR499A rs3746444 G recessive 350 ESRD patients and 350 age-matched, sex-matched, and ethnically matched controls. EFO_0003884 N/A increasing risk chronic kidney disease rs3746444-G of hsa-mir-499a and its dysfunction is significantly associated with the increasing risk of Chronic kidney disease by using case-control analysis in 350 ESRD patients and 350 age-matched, sex-matched, and ethnically matched controls. 0.4 Genetic variants of MicroRNA-related genes in susceptibility and prognosis of end-stage renal disease and renal allograft outcome among north Indians. case-control analysis hsa-mir-499a miRNA Chronic kidney disease 0.33 CCACGTGAAC(A > G)TCACAGCAAG chr20: 34990448 0.8165,0.1835 0.81708715596330275,0.18291284403669724 Region score:0.79; TSS score:0.85; Unmatched score:0.95; Average GERP:3.757564356435645 GeneName:MIR499A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207635; TranscriptID:ENST00000384903; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR499B; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283441; TranscriptID:ENST00000636498; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYH7B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000078814; TranscriptID:ENST00000262873; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001294 24618566 miR-612 rs12803915 A Dominant 213 b-cell all patients and 387 controls EFO_1001947 N/A Decreasing risk Pediatric acute lymphoblastic leukemia rs12803915-A of miR-612 and its dysfunction is significantly associated with the decreasing risk of pediatric acute lymphoblastic leukemia by using case-control analysis in 213 B-cell ALL patients and 387 controls. 0.4 Noncoding RNA-related polymorphisms in pediatric acute lymphoblastic leukemia susceptibility. case-control analysis hsa-mir-612 miRNA Childhood t acute lymphoblastic leukemia 0.33 AGCACTAGCA(G > A)GAGGGGCTCC chr11: 65444508 0.8618,0.1382 0.82363340978593272,0.17636659021406727 Region score:0.28; TSS score:0.44; Unmatched score:0.76; Average GERP:-0.47209009900990107 GeneName:MIR612; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000283791; TranscriptID:ENST00000384994; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NEAT1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000245532; TranscriptID:ENST00000501122; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01684; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000275948; TranscriptID:ENST00000616984; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001295 23430406 miR-499 rs3746444 G N/a 680 glioma cases and 690 cancer-free controls EFO_0005543 N/A No significance for risk Gliomas rs3746444-G of miR-499 and its dysfunction is not significantly associated with gliomas by using case-control analysis in 680 glioma cases and 690 cancer-free controls. -0.4 Four common polymorphisms in microRNAs and the risk of adult glioma in a Chinese case-control study. case-control analysis hsa-mir-499a miRNA Glioma -0.33 CCACGTGAAC(A > G)TCACAGCAAG chr20: 34990448 0.8165,0.1835 0.81708715596330275,0.18291284403669724 Region score:0.79; TSS score:0.85; Unmatched score:0.95; Average GERP:3.757564356435645 GeneName:MIR499A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207635; TranscriptID:ENST00000384903; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR499B; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283441; TranscriptID:ENST00000636498; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYH7B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000078814; TranscriptID:ENST00000262873; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001296 26152337 hsa-mir-596 rs61388742 C N/a 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs61388742-C of hsa-mir-596 and its dysfunction is not significantly associated with hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors. -0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. case-control analysis hsa-mir-596 miRNA Hepatocellular cancer -0.33 CCTGCCCGGC(T > C)CCTCGGGAAC chr8: 1817259 0.9385,0.0615 0.90666411824668705,0.09333588175331294 Region score:0.41; TSS score:0.33; Unmatched score:0.76; Average GERP:-0.06671287128712869 GeneName:KBTBD11-OT1; CADD-Score:2; Consquence:intron,NMD; GeneID:ENSG00000283239; TranscriptID:ENST00000635855; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR596; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207826; TranscriptID:ENST00000385091; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000845979; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001297 22952603 NONHSAT151213.1 rs12123383 ? N/A 1 american indian ancestry individual//18 african american individuals//10 asian ancestry individuals//325 european ancestry individuals//17 hispanic individuals//10 individuals GO_0042493 N/A Associate Response to amphetamines rs12123383-? of NONHSAT151213.1 is significantly associated with the response to amphetamines by using GWAS analysis in 1 american indian ancestry individual//18 african american individuals//10 asian ancestry individuals//325 european ancestry individuals//17 hispanic individuals//10 individuals(p-value = 4E-6 ;OR = ?). 0.4 Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13). genome-wide association analysis NONHSAT151213.1 lncRNA Response to drug 0.33 GGACTGGGAC(A > C)ACCATGCCCC chr1: 19060091 0.7035,0.2965 0.73685970948012232,0.26314029051987767 Region score:0.23; TSS score:0.18; Unmatched score:0.14; Average GERP:-0.08949999999999993 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001298 18439548 NONHSAT003744.2 rs1892534 A N/A 6,345 european ancestry female individuals EFO_0000195 N/A Associate C-reactive protein rs1892534-A of NONHSAT003744.2 is significantly associated with the c-reactive protein by using GWAS analysis in 6,345 european ancestry female individuals(p-value = 7E-21 ;OR = 0.17). 0.4 Loci related to metabolic-syndrome pathways including LEPR,HNF1A, IL6R, and GCKR associate with plasma C-reactive protein: the Women's Genome Health Study. genome-wide association analysis NONHSAT003744.2 lncRNA Metabolic syndrome 0.33 GCTGATGGAT(C > T)AAGACATACT chr1: 65640261 0.4661,0.5339 0.55370795107033639,0.44629204892966360 Region score:0.29; TSS score:0.71; Unmatched score:0.7; Average GERP:-1.211846534653465 GeneName:LEPR; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000116678; TranscriptID:ENST00000349533; AnnoType:3PRIME_UTR; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001299 28181414 miR-146a rs57095329 C N/a 124 patients with comorbid ar and asthma (ar-a) and 206 healthy chinese children as controls EFO_0000270 N/A No significance for risk Asthma rs57095329-C of miR-146a and its dysfunction is not significantly associated with asthma by using case-control analysis in 124 patients with comorbid AR and asthma (AR-A) and 206 healthy Chinese children as controls. -0.4 A functional variant of miRNA-149 confers risk for allergic rhinitis and comorbid asthma in Chinese children. case-control analysis hsa-mir-146a miRNA Asthma -0.33 GAGAGTACAG(A > G)CAGGAAGCCT chr5: 160467840 0.8572,0.1428 0.91701707441386340,0.08298292558613659 Region score:0.55; TSS score:0.62; Unmatched score:0.87; Average GERP:3.053772277227722 GeneName:MIR3142HG; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775866; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001300 27989323 NONHSAT122589.2 rs62486616 G N/A 8,189 finnish ancestry individuals EFO_0005140 N/A Associate Interleukin-6 levels rs62486616-G of NONHSAT122589.2 is significantly associated with the interleukin-6 levels by using GWAS analysis in 8,189 finnish ancestry individuals(p-value = 9E-6 ;OR = 0.2878). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. genome-wide association analysis NONHSAT122589.2 lncRNA Autoimmune disease 0.33 CCCAAAGGAG(C > G)TGGAACTACA chr7: 104987457 0.9898,0.01018 0.98761627166156982,0.01238372833843017 Region score:0.23; TSS score:0.1; Unmatched score:0.1; Average GERP:-0.14967326732673272 GeneName:LINC01004; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000228393; TranscriptID:ENST00000445184; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001301 24854593 miR-499 rs3746444 C Dominant 984 patients with HCC and 991 cancer-free controls EFO_0000182 N/A increasing risk hepatocellular carcinoma rs3746444-C of hsa-mir-499a and its dysfunction is significantly associated with the increasing risk of Hepatocellular carcinoma by using case-control analysis in 984 patients with HCC and 991 cancer-free controls 0.4 Identification of miR-423 and miR-499 polymorphisms on affecting the risk of hepatocellular carcinoma in a large-scale population. case-control analysis hsa-mir-499a miRNA Hepatocellular carcinoma -0.095 CCACGTGAAC(A > G)TCACAGCAAG chr20: 34990448 0.8165,0.1835 0.81708715596330275,0.18291284403669724 Region score:0.79; TSS score:0.85; Unmatched score:0.95; Average GERP:3.757564356435645 GeneName:MIR499A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207635; TranscriptID:ENST00000384903; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR499B; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283441; TranscriptID:ENST00000636498; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYH7B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000078814; TranscriptID:ENST00000262873; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001301 30215231 miR-499 rs3746444 G N/a 100 hepatocellular carcinoma patients (70 males and 30 females) and 120 healthy controls (70 males and 50 females) in an iranian population. EFO_0000182 N/A Increasing risk Hepatocellular carcinoma rs3746444-G of miR-499 and its dysfunction is significantly associated with the increasing risk of hepatocellular carcinoma by using case-control analysis in 100 hepatocellular carcinoma patients (70 males and 30 females) and 120 healthy controls (70 males and 50 females) in an Iranian Population 0.4 Association of MicroRNA Polymorphisms With Hepatocellular Carcinoma in an Iranian Population. case-control analysis hsa-mir-499a miRNA Hepatocellular cancer -0.095 CCACGTGAAC(A > G)TCACAGCAAG chr20: 34990448 0.8165,0.1835 0.81708715596330275,0.18291284403669724 Region score:0.79; TSS score:0.85; Unmatched score:0.95; Average GERP:3.757564356435645 GeneName:MIR499A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207635; TranscriptID:ENST00000384903; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR499B; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283441; TranscriptID:ENST00000636498; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYH7B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000078814; TranscriptID:ENST00000262873; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001301 22393998 miR-499 rs3746444 G N/A 222 subjects with HCC and 222 cancer-free control subjects EFO_0000182 N/A no significance for risk hepatocellular carcinoma rs3746444-G of hsa-mir-499a and its dysfunction is not significantly associated with Hepatocellular carcinoma by using case-control analysis in 222 subjects with HCC and 222 cancer-free control subjects -0.4 Genetic variation in the microRNA-499 gene and hepatocellular carcinoma risk in a Turkish population: lack of any association in a case-control study. case-control analysis hsa-mir-499a miRNA Hepatocellular carcinoma -0.095 CCACGTGAAC(A > G)TCACAGCAAG chr20: 34990448 0.8165,0.1835 0.81708715596330275,0.18291284403669724 Region score:0.79; TSS score:0.85; Unmatched score:0.95; Average GERP:3.757564356435645 GeneName:MIR499A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207635; TranscriptID:ENST00000384903; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR499B; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283441; TranscriptID:ENST00000636498; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYH7B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000078814; TranscriptID:ENST00000262873; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001301 24301908 miR-499 rs3746444 G Dominant 172 hepatocellular carcinoma patients and 185 cancer-free controls EFO_0000182 N/A decreasing risk hepatocellular carcinoma rs3746444-G of hsa-mir-499a and its dysfunction is significantly associated with the decreasing risk of Hepatocellular carcinoma by using case-control analysis in 172 hepatocellular carcinoma patients and 185 cancer-free controls 0.4 miR-499A>G rs3746444 and miR-146aG>C expression and hepatocellular carcinoma risk in the Chinese population. case-control analysis hsa-mir-499a miRNA Hepatocellular carcinoma -0.095 CCACGTGAAC(A > G)TCACAGCAAG chr20: 34990448 0.8165,0.1835 0.81708715596330275,0.18291284403669724 Region score:0.79; TSS score:0.85; Unmatched score:0.95; Average GERP:3.757564356435645 GeneName:MIR499A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207635; TranscriptID:ENST00000384903; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR499B; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283441; TranscriptID:ENST00000636498; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYH7B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000078814; TranscriptID:ENST00000262873; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001301 21861697 miR-499 rs3746444 C N/A 186 primary liver cancer cases and 483 healthy controls EFO_0000182 N/A no significance for risk hepatocellular carcinoma rs3746444-C of hsa-mir-499a and its dysfunction is not significantly associated with Hepatocellular carcinoma by using case-control analysis in 186 primary liver cancer cases and 483 healthy controls -0.4 Association between two genetic variants in miRNA and primary liver cancer risk in the Chinese population. case-control analysis hsa-mir-499a miRNA Hepatocellular carcinoma -0.095 CCACGTGAAC(A > G)TCACAGCAAG chr20: 34990448 0.8165,0.1835 0.81708715596330275,0.18291284403669724 Region score:0.79; TSS score:0.85; Unmatched score:0.95; Average GERP:3.757564356435645 GeneName:MIR499A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207635; TranscriptID:ENST00000384903; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR499B; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283441; TranscriptID:ENST00000636498; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYH7B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000078814; TranscriptID:ENST00000262873; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001301 27509977 MIR499a rs3746444 G Dominant 60 hepatocellular carcinoma (hcc) patients and 150 controls EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs3746444-G of MIR499a and its dysfunction is not significantly associated with hepatocellular carcinoma by using case-control analysis in 60 hepatocellular carcinoma (HCC) patients and 150 controls. -0.4 Combined Genotype Analyses of Precursor miRNA196a2 and 499a Variants with Hepatic and Renal Cancer Susceptibility a Preliminary Study. case-control analysis hsa-mir-499a miRNA Hepatocellular cancer -0.095 CCACGTGAAC(A > G)TCACAGCAAG chr20: 34990448 0.8165,0.1835 0.81708715596330275,0.18291284403669724 Region score:0.79; TSS score:0.85; Unmatched score:0.95; Average GERP:3.757564356435645 GeneName:MIR499A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207635; TranscriptID:ENST00000384903; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR499B; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283441; TranscriptID:ENST00000636498; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYH7B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000078814; TranscriptID:ENST00000262873; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001301 26152337 hsa-mir-499a rs3746444 G N/a 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs3746444-G of hsa-mir-499a and its dysfunction is not significantly associated with hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors. -0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. case-control analysis hsa-mir-499a miRNA Hepatocellular cancer -0.095 CCACGTGAAC(A > G)TCACAGCAAG chr20: 34990448 0.8165,0.1835 0.81708715596330275,0.18291284403669724 Region score:0.79; TSS score:0.85; Unmatched score:0.95; Average GERP:3.757564356435645 GeneName:MIR499A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207635; TranscriptID:ENST00000384903; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR499B; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283441; TranscriptID:ENST00000636498; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYH7B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000078814; TranscriptID:ENST00000262873; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001302 27863252 NONHSAT008671.2 rs1434282 T N/A 172,332 european ancestry individuals EFO_0004527 N/A Associate Mean corpuscular hemoglobin rs1434282-T of NONHSAT008671.2 is significantly associated with the mean corpuscular hemoglobin by using GWAS analysis in 172,332 european ancestry individuals(p-value = 3E-22 ;OR = 0.03887805). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT008671.2 lncRNA Mean corpuscular hemoglobin 0.33 TCCCAAGAGA(C > T)GTTATCAGTC chr1: 199041592 0.219,0.781 0.23566513761467889,0.76433486238532110 Region score:0.7; TSS score:0.66; Unmatched score:0.73; Average GERP:2.7453069306930686 GeneName:LINC01221; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000235492; TranscriptID:ENST00000432488; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001303 21499248 NONHSAT208981.1 rs2596542 A N/A 721 japanese ancestry cases//2,890 japanese ancestry controls; 673 japanese ancestry cases//2,596 japanese ancestry controls EFO_0000182 N/A Associate Hepatocellular carcinoma rs2596542-A of NONHSAT208981.1 is significantly associated with the hepatocellular carcinoma by using GWAS analysis in 721 japanese ancestry cases//2,890 japanese ancestry controls; 673 japanese ancestry cases//2,596 japanese ancestry controls(p-value = 4E-13 ;OR = 1.39). 0.4 Genome-wide association study identifies a susceptibility locus for HCV-induced hepatocellular carcinoma. genome-wide association analysis NONHSAT208981.1 lncRNA Hepatocellular cancer 0.33 AGAATTTTAT(C > T)GTGTAGCTGT chr6: 31398818 0.5785,0.4215 0.58948139653414882,0.41051860346585117 Region score:0.4; TSS score:0.32; Unmatched score:0.61; Average GERP:-0.02582178217821779 GeneName:AL645933.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000272221; TranscriptID:ENST00000606743; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HCP5; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000206337; TranscriptID:ENST00000414046; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MICA; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000204520; TranscriptID:ENST00000449934; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000787567; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000787569; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF00019; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000199332; TranscriptID:ENST00000362462; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001304 27863252 NONHSAT211179.1 rs9376098 A N/A 171,996 european ancestry individuals EFO_0007992 N/A Associate Basophil percentage of white cells rs9376098-A of NONHSAT211179.1 is significantly associated with the basophil percentage of white cells by using GWAS analysis in 171,996 european ancestry individuals(p-value = 1E-12 ;OR = 0.02586259). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT211179.1 lncRNA Basophil percentage of leukocytes 0.33 TTTTTATTTT(T > A)AAAAAAGGTA chr6: 135178322 0.4796,0.5204 0.55258505351681957,0.44741494648318042 Region score:0.35; TSS score:0.54; Unmatched score:0.34; Average GERP:-0.38019801980198026 GeneName:MYB; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000118513; TranscriptID:ENST00000341911; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001305 19851984 let7f-2 rs17276588 A N/A 142 OPL patients and 136 matched controls EFO_0006566 N/A no significance for risk oral premalignant lesions rs17276588-A of hsa-let-7f-2 and its dysfunction is not significantly associated with Dysplastic oral keratinocyte by using case-control analysis in 142 OPL patients and 136 matched controls -0.4 Genetic variation in MicroRNA genes and risk of oral premalignant lesions. case-control analysis hsa-let-7f-2 miRNA Dysplastic oral keratinocyte -0.33 ACCAATGTGG(G > A)ACTTTGCAAG chrX: 53557457 0.9012,0.09881 0.94305874108053007,0.05694125891946992 Region score:0.66; TSS score:0.13; Unmatched score:0.41; Average GERP:1.1050594059405945 GeneName:HUWE1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000086758; TranscriptID:ENST00000342160; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR98; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000271886; TranscriptID:ENST00000606724; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIRLET7F2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000208012; TranscriptID:ENST00000385277; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001306 26634245 NONHSAT196125.1 rs115371810 G N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio rs115371810-G of NONHSAT196125.1 is significantly associated with the post bronchodilator fev1/fvc ratio by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 3E-6 ;OR = 0.484). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT196125.1 lncRNA Pulmonary function measurement 0.33 TCAGCCTGTG(A > G)TGGTGTGTTG chr3: 115615117 0.9998,0.0001997 0.99948235219164118,0.00051764780835881 Region score:0.48; TSS score:0.37; Unmatched score:0.26; Average GERP:0.013876237623762373 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000697200; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001307 21507922 NONHSAT164135.1 rs1727307 ? N/A 115 african ancestry hiv-negative individuals EFO_0004309 N/A Associate Platelet count rs1727307-? of NONHSAT164135.1 is significantly associated with the platelet count by using GWAS analysis in 115 african ancestry hiv-negative individuals(p-value = 3E-6 ;OR = ?). 0.4 Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women. genome-wide association analysis NONHSAT164135.1 lncRNA Platelet count 0.33 CTGGCTTCAC(A > G)GCAGGATTGC chr12: 123091195 0.3399,0.6601 0.31212570081549439,0.68787429918450560 Region score:0.33; TSS score:0.46; Unmatched score:0.22; Average GERP:-0.00949405940594052 GeneName:AC026362.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000280381; TranscriptID:ENST00000624878; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000472691; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PITPNM2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000090975; TranscriptID:ENST00000320201; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001308 23382691 NONHSAT200939.1 rs7661864 G N/A 2,247 european ancestry individuals EFO_0002690 N/A Associate Igg glycosylation rs7661864-G of NONHSAT200939.1 is significantly associated with the igg glycosylation by using GWAS analysis in 2,247 european ancestry individuals(p-value = 5E-6 ;OR = 0.3307). 0.4 Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. genome-wide association analysis NONHSAT200939.1 lncRNA Systemic lupus erythematosus 0.33 ACGTGGTGAT(G > A)ACTCAGACAA chr4: 6734638 0.6436,0.3564 0.63188869775739041,0.36811130224260958 Region score:0.31; TSS score:0.33; Unmatched score:0.38; Average GERP:-0.0950445544554456 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001309 23251661 NONHSAT219644.1 rs10125737 A N/A 815 hispanic children from 263 families EFO_0003940 N/A Associate Obesity-related traits rs10125737-A of NONHSAT219644.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 6E-6 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. genome-wide association analysis NONHSAT219644.1 lncRNA Physical activity 0.33 TCGAAGTGCT(G > A)TTTTTTTAAA chr9: 78468981 0.5723,0.4277 0.59919724770642201,0.40080275229357798 Region score:0.4; TSS score:0.37; Unmatched score:0.19; Average GERP:4.074129999999996 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001310 28537254 NONHSAT004062.2 rs34517439 A N/A up to 11,988 european ancestry cases//up to 275,335 european ancestry controls; 7,044 european ancestry cases//11,434 european ancestry controls EFO_0000676 N/A Associate Psoriasis rs34517439-A of NONHSAT004062.2 is significantly associated with the psoriasis by using GWAS analysis in up to 11,988 european ancestry cases//up to 275,335 european ancestry controls; 7,044 european ancestry cases//11,434 european ancestry controls(p-value = 4E-9 ;OR = 1.18). 0.4 Large scale meta-analysis characterizes genetic architecture for common psoriasis associated variants. genome-wide association analysis NONHSAT004062.2 lncRNA Psoriasis 0.33 TTCACACAAA(C > A)TTTTCTTAGA chr1: 77984833 0.9724,0.02756 0.93118469673802242,0.06881530326197757 Region score:0.4; TSS score:0.12; Unmatched score:0.11; Average GERP:0.1963623762376238 GeneName:DNAJB4; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000162616; TranscriptID:ENST00000487931; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GIPC2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000137960; TranscriptID:ENST00000476882; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001311 28468790 NONHSAT153630.1 rs1642645 ? N/A up to 439 european ancestry trios EFO_0005938 N/A Associate Left ventricular obstructive tract defect (maternal effect) rs1642645-? of NONHSAT153630.1 is significantly associated with the left ventricular obstructive tract defect (maternal effect) by using GWAS analysis in up to 439 european ancestry trios(p-value = 8E-7 ;OR = 1.8843181). 0.4 Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects. genome-wide association analysis NONHSAT153630.1 lncRNA Congenital left-sided heart lesions 0.33 CCCTGGCTCT(A > C)CCACCTCTCC chr1: 42036610 0.1408,0.8592 0.18135990061162079,0.81864009938837920 Region score:0.44; TSS score:0.55; Unmatched score:0.83; Average GERP:-0.5112441584158417 GeneName:HIVEP3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000127124; TranscriptID:ENST00000489103; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HNRNPFP1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000227538; TranscriptID:ENST00000391730; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000005452; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001312 26626624 NONHSAT163610.1 rs2020854 T N/A 1,946 european ancestry cases//4,934 european ancestry controls; up to 2,883 european ancestry cases//up to 14,179 european ancestry controls EFO_0003778 N/A Associate Psoriatic arthritis rs2020854-T of NONHSAT163610.1 is significantly associated with the psoriatic arthritis by using GWAS analysis in 1,946 european ancestry cases//4,934 european ancestry controls; up to 2,883 european ancestry cases//up to 14,179 european ancestry controls(p-value = 5E-6 ;OR = 1.395). 0.4 Genome-wide Association Analysis of Psoriatic Arthritis and Cutaneous Psoriasis Reveals Differences in Their Genetic Architecture. genome-wide association analysis NONHSAT163610.1 lncRNA Psoriatic arthritis 0.33 TCTGTCCAGA(T > C)CTCACCTTAT chr12: 56349583 0.8045,0.1955 0.79182594291539245,0.20817405708460754 Region score:0.46; TSS score:0.17; Unmatched score:0.45; Average GERP:1.179664851485148 GeneName:RNU7-40P; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000252206; TranscriptID:ENST00000516397; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:STAT2; CADD-Score:5; Consquence:splice,intron; GeneID:ENSG00000170581; TranscriptID:ENST00000314128; AnnoType:SPLICE_SITE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001313 27863252 NONHSAT207135.1 rs2856816 C N/A 172,378 european ancestry individuals EFO_0007991 N/A Associate Eosinophil percentage of white cells rs2856816-C of NONHSAT207135.1 is significantly associated with the eosinophil percentage of white cells by using GWAS analysis in 172,378 european ancestry individuals(p-value = 2E-17 ;OR = 0.0523189). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT207135.1 lncRNA Eosinophil percentage of leukocytes 0.33 TGACTTCCAC(T > C)TTTCCTGCTT chr6: 33077723 0.7192,0.2808 0.77285614169215086,0.22714385830784913 Region score:0.24; TSS score:0.5; Unmatched score:0.42; Average GERP:-0.11250653465346519 GeneName:HLA-DPA1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000231389; TranscriptID:ENST00000419277; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HLA-DPB1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000223865; TranscriptID:ENST00000418931; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000195744; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RPL32P1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000224796; TranscriptID:ENST00000439737; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001314 24954895 NONHSAT029820.2 rs4842666 T N/A 55,796 european ancestry individuals; 43,445 european ancestry individuals//1,849 chinese ancestry individuals//2,502 malay ancestry individuals//2,476 asian indian ancestry individuals//1,855 asian ancestry individuals EFO_0004325 N/A Associate Blood pressure rs4842666-T of NONHSAT029820.2 is significantly associated with the blood pressure by using GWAS analysis in 55,796 european ancestry individuals; 43,445 european ancestry individuals//1,849 chinese ancestry individuals//2,502 malay ancestry individuals//2,476 asian indian ancestry individuals//1,855 asian ancestry individuals(p-value = 2E-7 ;OR = 0.91). 0.4 Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia. genome-wide association analysis NONHSAT029820.2 lncRNA Blood pressure 0.33 TTACTGAAAC(T > C)ATTGAAATCT chr12: 89547772 0.7738,0.2262 0.83214672528032619,0.16785327471967380 Region score:0.29; TSS score:0.26; Unmatched score:0.1; Average GERP:0.07637623762376243 GeneName:AC025034.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000279939; TranscriptID:ENST00000623264; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:POC1B-AS1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000270344; TranscriptID:ENST00000605233; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001315 23526039 miR-34b/34c rs4938723 CC recessive 1,972 cases and 1,776 controls EFO_0000305 N/A better prognosis breast carcinoma rs4938723-CC of hsa-mir-34b and its dysfunction is significantly associated with the better prognosis of Breast carcinoma by using case-control analysis in 1,972 cases and 1,776 controls 0.4 Association of germline microRNA SNPs in pre-miRNA flanking region and breast cancer risk and survival: the Carolina Breast Cancer Study. case-control analysis hsa-mir-34b miRNA Breast carcinoma 0.33 TTTGACCTAT(T > C)ACAGCTCTCA chr11: 111511840 0.7143,0.2857 0.67424025229357798,0.32575974770642201 Region score:0.24; TSS score:0.41; Unmatched score:0.71; Average GERP:-0.7293356435643562 GeneName:AP002008.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000254980; TranscriptID:ENST00000530283; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:BTG4; CADD-Score:2; Consquence:intron; GeneID:ENSG00000137707; TranscriptID:ENST00000356018; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:C11orf88; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000183644; TranscriptID:ENST00000332814; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR34B; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207811; TranscriptID:ENST00000385076; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR34C; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207562; TranscriptID:ENST00000384831; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001316 27374108 miR-200b rs9660710 A Dominant 1341 non-small cell lung cancer (nsclc) cases and 1982 controls EFO_0003060 N/A Increasing risk Non-small cell lung cancer rs9660710-A of miR-200b and its dysfunction is significantly associated with the increasing risk of non-small cell lung cancer by using case-control analysis in 1341 non-small cell lung cancer (NSCLC) cases and 1982 controls. 0.4 Genetic variants in regulatory regions of microRNAs are associated with lung cancer risk. case-control analysis hsa-mir-200b miRNA Non-small cell lung cancer 0.33 GTCTCTCGTG(A > C,T)GGTTTTTTAC chr1: 1163962 0.1701,0.8299,. 0.12792271916411824,0.86937754841997961,0.00269973241590214 Region score:0.36; TSS score:0.46; Unmatched score:0.44; Average GERP:-1.8039633663366341 GeneName:MIR200A; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207607; TranscriptID:ENST00000384875; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR200B; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207730; TranscriptID:ENST00000384997; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000344515; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001317 25581431 NONHSAT185940.1 rs2072590 A N/A 4,368 european ancestry cases//9,123 european ancestry controls,; 2,462 european ancestry brca1 mutation carrier cases//12,790 european ancestry brca1 mutation carrier controls//up to 631 european ancestry brca2 mutation carrier cases//7,580 european ancestry brca2 mutation carrier controls//9,627 european ancestry serous cases//1,442 european ancestry non-serous cases//21,722 european ancestry controls Orphanet_398934 N/A Associate Epithelial ovarian cancer rs2072590-A of NONHSAT185940.1 is significantly associated with the epithelial ovarian cancer by using GWAS analysis in 4,368 european ancestry cases//9,123 european ancestry controls,; 2,462 european ancestry brca1 mutation carrier cases//12,790 european ancestry brca1 mutation carrier controls//up to 631 european ancestry brca2 mutation carrier cases//7,580 european ancestry brca2 mutation carrier controls//9,627 european ancestry serous cases//1,442 european ancestry non-serous cases//21,722 european ancestry controls(p-value = 9E-14 ;OR = 1.14). 0.4 Identification of six new susceptibility loci for invasive epithelial ovarian cancer. genome-wide association analysis NONHSAT185940.1 lncRNA Malignant epithelial tumor of ovary 0.33 AGCTCTAGGG(A > C,T)GCTGGTACCA chr2: 176177905 0.1825,0.8175,. 0.23644559123343527,0.76353051732925586,0.00002389143730886 Region score:0.34; TSS score:0.4; Unmatched score:0.86; Average GERP:-0.862604950495049 GeneName:AC009336.2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000278500; TranscriptID:ENST00000468418; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HAGLR; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000224189; TranscriptID:ENST00000452365; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HAGLROS; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000226363; TranscriptID:ENST00000426615; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXD3; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000128652; TranscriptID:ENST00000410016; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000629037; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000629041; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001318 19340012 NONHSAT174717.1 rs154659 C N/A 2,287 european ancestry female individuals; 870 european ancestry female individuals EFO_0003958 N/A Associate Tanning rs154659-C of NONHSAT174717.1 is significantly associated with the tanning by using GWAS analysis in 2,287 european ancestry female individuals; 870 european ancestry female individuals(p-value = 7E-8 ;OR = 0.14). 0.4 Genome-wide association study of tanning phenotype in a population of European ancestry. genome-wide association analysis NONHSAT174717.1 lncRNA Sunburn 0.33 TGACCCTTGC(T > C)GAGAATAGCC chr16: 89600929 0.6054,0.3946 0.65445814220183486,0.34554185779816513 Region score:0.37; TSS score:0.49; Unmatched score:0.32; Average GERP:-0.7036192376237621 GeneName:CPNE7; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000178773; TranscriptID:ENST00000268720; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001319 26980576 NONHSAT154193.1 rs6697139 ? N/A 93 korean ancestry responder cases//16 korean ancestry non-responder cases EFO_0002690 N/A Associate Response to cyclophosphamide in systemic lupus erythematosus with lupus nephritis rs6697139-? of NONHSAT154193.1 is significantly associated with the response to cyclophosphamide in systemic lupus erythematosus with lupus nephritis by using GWAS analysis in 93 korean ancestry responder cases//16 korean ancestry non-responder cases(p-value = 3E-8 ;OR = ?). 0.4 Response to Intravenous Cyclophosphamide Treatment for Lupus Nephritis Associated with Polymorphisms in the FCGR2B-FCRLA Locus. genome-wide association analysis NONHSAT154193.1 lncRNA Systemic lupus erythematosus 0.33 TTGCTTATTT(G > A,T)CTAACCAATA chr1: 161690906 0.8844,.,0.1156 0.85586295871559633,0.00000796381243628,0.14412907747196738 Region score:0.52; TSS score:0.38; Unmatched score:0.18; Average GERP:-0.07829900990099005 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000375161; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001320 27196440 miR-590 rs6971711 T N/a 55 hcm patients and 100 ethnically-matched controls EFO_0000538 N/A Increasing risk Hypertrophic cardiomyopathy rs6971711-T of miR-590 and its dysfunction is significantly associated with the increasing risk of hypertrophic cardiomyopathy by using case-control analysis in 55 HCM patients and 100 ethnically-matched controls. By using the disease cell lines or tissues, the mutation of miR-590 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 Common miR-590 Variant rs6971711 Present Only in African Americans Reduces miR-590 Biogenesis. case-control analysis; Function hsa-mir-590 miRNA Hypertrophic cardiomyopathy 0.593 TATGTATAAG(C > T)TAGTCTCTGA chr7: 74191269 0.9738,0.02616 0.97719164118246687,0.02280835881753312 Region score:0.55; TSS score:0.27; Unmatched score:0.54; Average GERP:1.084751782178218 GeneName:EIF4H; CADD-Score:2; Consquence:intron; GeneID:ENSG00000106682; TranscriptID:ENST00000265753; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR590; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207741; TranscriptID:ENST00000385008; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001321 22778062 SNORD65 rs4617905 C N/a N/a function N/A Not significant changes in the structure Function rs4617905-C of SNORD65 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD65 snoRNA Function -0.049 GGTGAACCTA(T > C)GGTTTTCTGA chr17: 16441286 0.5104,0.4896 0.40392456676860346,0.59607543323139653 Region score:0.4; TSS score:0.26; Unmatched score:0.69; Average GERP:1.666643960396039 GeneName:AC093484.4; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000266651; TranscriptID:ENST00000585048; AnnoType:UPSTREAM; mirSVR-Score:-0.1936; mirSVR-E:-7.81 | GeneName:LRRC75A-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000175061; TranscriptID:ENST00000497774; AnnoType:INTRONIC; mirSVR-Score:-0.1936; mirSVR-E:-7.81 | GeneName:LRRC75A; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000181350; TranscriptID:ENST00000470794; AnnoType:DOWNSTREAM; mirSVR-Score:-0.1936; mirSVR-E:-7.81 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000550374; AnnoType:REGULATORY; mirSVR-Score:-0.1936; mirSVR-E:-7.81 | GeneName:SNORD49A; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000277370; TranscriptID:ENST00000384229; AnnoType:DOWNSTREAM; mirSVR-Score:-0.1936; mirSVR-E:-7.81 | GeneName:SNORD49B; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000277108; TranscriptID:ENST00000365172; AnnoType:DOWNSTREAM; mirSVR-Score:-0.1936; mirSVR-E:-7.81 | GeneName:SNORD65; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000277512; TranscriptID:ENST00000391079; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.1936; mirSVR-E:-7.81 | GeneName:TRPV2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000187688; TranscriptID:ENST00000338560; AnnoType:DOWNSTREAM; mirSVR-Score:-0.1936; mirSVR-E:-7.81 | NCRV0000001322 21647738 NONHSAT031256.2 rs7305618 T N/A 1,709 filipino ancestry female individuals EFO_0000195 N/A Associate C-reactive protein rs7305618-T of NONHSAT031256.2 is significantly associated with the c-reactive protein by using GWAS analysis in 1,709 filipino ancestry female individuals(p-value = 1E-8 ;OR = 0.267). 0.4 Genome-wide association with C-reactive protein levels in CLHNS: evidence for the CRP and HNF1A loci and their interaction with exposure to a pathogenic environment. genome-wide association analysis NONHSAT031256.2 lncRNA Metabolic syndrome 0.33 GATCGCTTCT(C > T)CTGTCTCCAC chr12: 120965129 0.6442,0.3558 0.70208174057084607,0.29791825942915392 Region score:0.25; TSS score:0.28; Unmatched score:0.29; Average GERP:-0.5760663366336634 GeneName:HNF1A-AS1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000241388; TranscriptID:ENST00000539163; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001323 27863252 NONHSAT173451.1 rs2968478 G N/A 172,925 european ancestry individuals EFO_0004509 N/A Associate Hemoglobin concentration rs2968478-G of NONHSAT173451.1 is significantly associated with the hemoglobin concentration by using GWAS analysis in 172,925 european ancestry individuals(p-value = 5E-44 ;OR = 0.0510282). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT173451.1 lncRNA Hemoglobin measurement 0.33 GGCCTGGTCA(T > G)AGCTGAAAGG chr16: 88792238 0.3784,0.6216 0.38257358562691131,0.61742641437308868 Region score:0.29; TSS score:0.37; Unmatched score:0.44; Average GERP:-0.2837801980198019 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001324 23382691 NONHSAT001678.2 rs10751776 C N/A 2,247 european ancestry individuals EFO_0002690 N/A Associate Igg glycosylation rs10751776-C of NONHSAT001678.2 is significantly associated with the igg glycosylation by using GWAS analysis in 2,247 european ancestry individuals(p-value = 7E-6 ;OR = 0.1484). 0.4 Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. genome-wide association analysis NONHSAT001678.2 lncRNA Systemic lupus erythematosus 0.33 CCAAGAGCTC(A > C)ACCTGCTGCC chr1: 24970252 0.3001,0.6999 0.37230823139653414,0.62769176860346585 Region score:0.34; TSS score:0.55; Unmatched score:0.47; Average GERP:-0.38735544554455453 GeneName:AL445471.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000261025; TranscriptID:ENST00000568143; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000351035; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001325 28498854 NONHSAT215731.1 rs10096908 ? N/A up to 31,155 african individuals; up to 4,187 african individuals//up to 14,016 korean ancestry individuals//up to 23,914 european ancestry individuals//up to 12,278 hispanic individuals EFO_0006335 N/A Associate Blood pressure traits (multi-trait analysis) rs10096908-? of NONHSAT215731.1 is significantly associated with the blood pressure traits (multi-trait analysis) by using GWAS analysis in up to 31,155 african individuals; up to 4,187 african individuals//up to 14,016 korean ancestry individuals//up to 23,914 european ancestry individuals//up to 12,278 hispanic individuals(p-value = 2E-6 ;OR = ?). 0.4 Single-trait and multi-trait genome-wide association analyses identify novel loci for blood pressure in African-ancestry populations. genome-wide association analysis NONHSAT215731.1 lncRNA Systolic blood pressure 0.33 GACTTGGTGG(C > T)ATCGCAAGAC chr8: 41784039 0.9032,0.09685 0.90143189347604485,0.09856810652395514 Region score:0.19; TSS score:0.2; Unmatched score:0.14; Average GERP:-0.11250396039603963 GeneName:ANK1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000029534; TranscriptID:ENST00000265709; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001326 26625972 let-7 rs1143770 T Dominant 761 patients with surgically resected non-small cell lung cancer EFO_0003060 N/A better prognosis non-small cell lung carcinoma rs1143770-T of hsa-let-7a-1 and its dysfunction is significantly associated with the better prognosis of Non-small cell lung carcinoma by using analysis of sequence variation in 761 patients with surgically resected non-small cell lung cancer 0.4 The pri-let-7a-2 rs1143770C>T is associated with prognosis of surgically resected non-small cell lung cancer. analysis of sequence variation hsa-let-7a-1 miRNA Non-small cell lung carcinoma 0.33 TATCTGTTGA(C > T)GAAATAGAAT chr11: 122146890 0.5074,0.4926 0.48013825178389398,0.51986174821610601 Region score:0.37; TSS score:0.37; Unmatched score:0.36; Average GERP:-0.28530099009900994 GeneName:MIR100HG; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000255248; TranscriptID:ENST00000534782; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIRLET7A2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000198975; TranscriptID:ENST00000362105; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000444950; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001327 28628559 miR-1206 rs2114358 G Recessive 117 pediatric all patients treated with 5 g/m mtx (dcog all-10) EFO_0006313 methotrexate Increasing risk Methotrexate-induced oral mucositis in pediatric acute lymphoblastic leukemia rs2114358-G of miR-1206 and its dysfunction is significantly associated with the increasing risk of methotrexate-induced oral mucositis in pediatric acute lymphoblastic leukemia by using analysis of sequence variation in 117 pediatric ALL patients treated with 5 g/m MTX (DCOG ALL-10). 0.4 The miR-1206 microRNA variant is associated with methotrexate-induced oral mucositis in pediatric acute lymphoblastic leukemia. analysis of sequence variation hsa-mir-1206 miRNA Chemotherapy-induced oral mucositis 0.33 CTTGCAGTAG(G > A,C)TTTTTGCAAG chr8: 128008933 0.3285,0.6715,. 0.34152013251783893,0.65599515800203873,0.00248470948012232 Region score:0.22; TSS score:0.05; Unmatched score:0.14; Average GERP:-0.28456732673267326 GeneName:AC103705.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000278275; TranscriptID:ENST00000619013; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR1206; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000283200; TranscriptID:ENST00000637127; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000869494; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PVT1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000249859; TranscriptID:ENST00000513868; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RNU4-25P; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000222501; TranscriptID:ENST00000410569; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001328 29047230 RP11-307C12.11 RP11-307C12.11 Deletion - Dominant Hepatocellular carcinoma EFO_0000182 N/A Poor prognosis Hepatocellular carcinoma Deletion of RP11-307C12.11 and its dysfunction is significantly associated with the poor prognosis of hepatocellular carcinoma by using analysis of sequence variation in hepatocellular carcinoma. 0.4 A comprehensive genome-wide analysis of long noncoding RNA expression profile in hepatocellular carcinoma. analysis of sequence variation; Function RP11-307C12.11 lncRNA Hepatocellular cancer 0.33 N/A N/A N/A N/A N/A N/A NCRV0000001329 29221444 NONHSAT191597.1 rs4819052 ? N/A 345 african american cases//346 african american controls; 137 african american cases//68 african american controls EFO_0004723 N/A Associate Coronary artery calcified atherosclerotic plaque (90 or 130 hu threshold) in type 2 diabetes rs4819052-? of NONHSAT191597.1 is significantly associated with the coronary artery calcified atherosclerotic plaque (90 or 130 hu threshold) in type 2 diabetes by using GWAS analysis in 345 african american cases//346 african american controls; 137 african american cases//68 african american controls(p-value = 8E-6 ;OR = 0.132). 0.4 Genome-wide association study of coronary artery calcified atherosclerotic plaque in African Americans with type 2 diabetes. genome-wide association analysis NONHSAT191597.1 lncRNA Coronary artery calcification 0.33 AGAAAGGGCA(A > G)ACTGAAAACC chr21: 45279862 0.7378,0.2622 0.75759747706422018,0.24240252293577981 Region score:0.2; TSS score:0.14; Unmatched score:0.24; Average GERP:-1.1801366336633667 GeneName:POFUT2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000186866; TranscriptID:ENST00000349485; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001330 29071344 NONHSAT185675.1 rs13031275 C N/A 3,041 african american individuals//1,618 european ancestry individuals; 1,612 african american individuals//1,551 european ancestry individuals EFO_0003761 N/A Associate Major depression and alcohol dependence rs13031275-C of NONHSAT185675.1 is significantly associated with the major depression and alcohol dependence by using GWAS analysis in 3,041 african american individuals//1,618 european ancestry individuals; 1,612 african american individuals//1,551 european ancestry individuals(p-value = 5E-6 ;OR = 1.032). 0.4 Genetic Risk Variants Associated With Comorbid Alcohol Dependence and Major Depression. genome-wide association analysis NONHSAT185675.1 lncRNA Unipolar depression 0.33 CTCCAGCAGT(A > C)GATGGATGAG chr2: 151489980 0.9832,0.01677 0.95985442150866462,0.04014557849133537 Region score:0.2; TSS score:0.22; Unmatched score:0.32; Average GERP:1.9031871287128714 GeneName:NEB; CADD-Score:5; Consquence:synonymous; GeneID:ENSG00000183091; TranscriptID:ENST00000618972; AnnoType:SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RIF1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000080345; TranscriptID:ENST00000457745; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001331 26053186 NONHSAT195361.1 rs78745845 ? N/A 362 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//438 european ancestry current smoker individuals//449 latino current smoker individuals//704 japanese ancestry current smoker individuals EFO_0001071 in smokers Associate 3-hydroxypropylmercapturic acid levels in smokers rs78745845-? of NONHSAT195361.1 is significantly associated with the 3-hydroxypropylmercapturic acid levels in smokers by using GWAS analysis in 362 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//438 european ancestry current smoker individuals//449 latino current smoker individuals//704 japanese ancestry current smoker individuals(p-value = 3E-6 ;OR = 1.0382). 0.4 Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer. genome-wide association analysis NONHSAT195361.1 lncRNA Lung cancer 0.33 AGTGTTATTG(T > A)TATTATTTTT chr3: 4993129 0.9758,0.02416 0.96970565749235474,0.03029434250764525 Region score:0.33; TSS score:0.31; Unmatched score:0.25; Average GERP:-0.48913386138613874 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001332 22778062 SNORD115-25 rs28497227 T N/a N/a function N/A Not significant changes in the structure Function rs28497227-T of SNORD115-25 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD115-25 snoRNA Function -0.049 AATAGGATTA(C > A,T)GCTGAGGCCC chr15: 25215612 0.9964,.,0.003594 0.99512614678899082,.,0.00487385321100917 Region score:0.29; TSS score:0.08; Unmatched score:0.51; Average GERP:-0.14699405940594062 GeneName:SNHG14; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000224078; TranscriptID:ENST00000424333; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0161; mirSVR-E:-17.97 | GeneName:SNORD115-23; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000201331; TranscriptID:ENST00000364461; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0161; mirSVR-E:-17.97 | GeneName:SNORD115-24; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000200398; TranscriptID:ENST00000363528; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0161; mirSVR-E:-17.97 | GeneName:SNORD115-25; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000199489; TranscriptID:ENST00000362619; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0161; mirSVR-E:-17.97 | GeneName:SNORD115-26; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000275524; TranscriptID:ENST00000365067; AnnoType:UPSTREAM; mirSVR-Score:-0.0161; mirSVR-E:-17.97 | GeneName:SNORD115-27; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000201300; TranscriptID:ENST00000364430; AnnoType:UPSTREAM; mirSVR-Score:-0.0161; mirSVR-E:-17.97 | NCRV0000001333 25117820 NONHSAT211248.1 rs2496589 ? N/A 255 european ancestry cases//387 european ancestry controls; EFO_0005944 N/A Associate Response to chemotherapy in breast cancer hypertensive cases (cumulative dose) (bevacizumab) rs2496589-? of NONHSAT211248.1 is significantly associated with the response to chemotherapy in breast cancer hypertensive cases (cumulative dose) (bevacizumab) by using GWAS analysis in 255 european ancestry cases//387 european ancestry controls; (p-value = 5E-6 ;OR = 1.7). 0.4 Genetic variant predicts bevacizumab-induced hypertension in ECOG-5103 and ECOG-2100. genome-wide association analysis NONHSAT211248.1 lncRNA Cumulative dose response to bevacizumab 0.33 CAAGCCTTTT(C > A,T)TCCTCATTTA chr6: 143412439 0.8814,0.1186,. 0.79499554026503567,0.20465405198776758,0.00035040774719673 Region score:0.43; TSS score:0.4; Unmatched score:0.21; Average GERP:-0.6268960396039605 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001334 25866641 NONHSAT170348.1 rs17280262 ? N/A 334 european ancestry cases EFO_0005842 N/A Associate Survival in colon cancer rs17280262-? of NONHSAT170348.1 is significantly associated with the survival in colon cancer by using GWAS analysis in 334 european ancestry cases(p-value = 1E-7 ;OR = 3.02). 0.4 A genome wide association study on Newfoundland colorectal cancer patients' survival outcomes. genome-wide association analysis NONHSAT170348.1 lncRNA Colorectal cancer 0.33 ATGTGCCCTC(C > T)TGCCCTTCTG chr14: 96587587 0.9623,0.03774 0.95283830275229357,0.04716169724770642 Region score:0.4; TSS score:0.46; Unmatched score:0.3; Average GERP:-0.7566443564356437 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000506667; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001335 27539887 NONHSAT108757.2 rs1050529 C N/A 12.945 european ancestry cases//274,252 european ancestry controls; 4,242 european ancestry cases//12,802 european ancestry controls EFO_0004193 N/A Associate Basal cell carcinoma rs1050529-C of NONHSAT108757.2 is significantly associated with the basal cell carcinoma by using GWAS analysis in 12.945 european ancestry cases//274,252 european ancestry controls; 4,242 european ancestry cases//12,802 european ancestry controls(p-value = 3E-9 ;OR = 1.11). 0.4 Genome-wide association study identifies 14 novel risk alleles associated with basal cell carcinoma. genome-wide association analysis NONHSAT108757.2 lncRNA Basal cell cancer 0.33 CTCGGACTCG(C > T)GGCGTCGCTG chr6: 31356838 0.7887,0.2113 0.84834511977573904,0.15165488022426095 Region score:0.2; TSS score:0.22; Unmatched score:0.78; Average GERP:1.285834653465347 GeneName:AL671883.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000271581; TranscriptID:ENST00000603274; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HLA-B; CADD-Score:7; Consquence:missense; GeneID:ENSG00000234745; TranscriptID:ENST00000412585; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR6891; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277402; TranscriptID:ENST00000618788; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000195527; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000787551; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001336 27863252 NONHSAT198500.1 rs901705 G N/A 170,494 european ancestry individuals EFO_0007989 N/A Associate Monocyte percentage of white cells rs901705-G of NONHSAT198500.1 is significantly associated with the monocyte percentage of white cells by using GWAS analysis in 170,494 european ancestry individuals(p-value = 2E-14 ;OR = 0.0291822). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT198500.1 lncRNA Monocypte percentage of leukocytes 0.33 CTCTTGGACA(T > C,G)CTTGCCCATC chr4: 38367014 0.3199,.,0.6801 0.31097891182466870,0.00000796381243628,0.68901312436289500 Region score:0.43; TSS score:0.34; Unmatched score:0.71; Average GERP:-0.5972115841584158 GeneName:LINC02513; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000248227; TranscriptID:ENST00000503465; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000721675; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001337 22286219 NONHSAT179793.1 rs7412 ? N/A 8,330 european ancestry individuals EFO_0004529 N/A Associate Lipid metabolism phenotypes rs7412-? of NONHSAT179793.1 is significantly associated with the lipid metabolism phenotypes by using GWAS analysis in 8,330 european ancestry individuals(p-value = 3E-58 ;OR = 0.75). 0.4 Genome-wide association study identifies multiple loci influencing human serum metabolite levels. genome-wide association analysis NONHSAT179793.1 lncRNA Lipid measurement 0.33 CCTGCAGAAG(C > T)GCCTGGCAGT chr19: 44908822 0.9249,0.07508 0.91786123853211009,0.08213876146788990 Region score:0.36; TSS score:0.39; Unmatched score:0.61; Average GERP:1.2422673267326734 GeneName:AC011481.3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000280087; TranscriptID:ENST00000623895; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:APOE; CADD-Score:7; Consquence:missense; GeneID:ENSG00000130203; TranscriptID:ENST00000252486; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001338 28346442 NONHSAT075637.2 rs711830 A N/A 22,406 european ancestry cases//40,941 european ancestry controls EFO_0001075 N/A Associate Epithelial ovarian cancer rs711830-A of NONHSAT075637.2 is significantly associated with the epithelial ovarian cancer by using GWAS analysis in 22,406 european ancestry cases//40,941 european ancestry controls(p-value = 3E-15 ;OR = 1.12). 0.4 Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer. genome-wide association analysis NONHSAT075637.2 lncRNA Ovarian cancer 0.33 GAGACCCATC(A > G)GCGGCGCGCC chr2: 176172583 0.1815,0.8185 0.23614296636085626,0.76385703363914373 Region score:0.53; TSS score:0.8; Unmatched score:0.84; Average GERP:2.5885445544554457 GeneName:AC009336.2; CADD-Score:2; Consquence:NMD,3_prime_UTR; GeneID:ENSG00000278500; TranscriptID:ENST00000468418; AnnoType:3PRIME_UTR; mirSVR-Score:-0.0979; mirSVR-E:-23.82 | GeneName:HAGLR; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000224189; TranscriptID:ENST00000452365; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0979; mirSVR-E:-23.82 | GeneName:HOXD3; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000128652; TranscriptID:ENST00000410016; AnnoType:3PRIME_UTR; mirSVR-Score:-0.0979; mirSVR-E:-23.82 | NCRV0000001339 26804235 MIR27A rs11671784 T N/A 1,592 patients EFO_0000311 fluoropyrimidine no significance for risk cancer rs11671784-T of hsa-mir-27a and its dysfunction is not significantly associated with Cancer by using analysis of sequence variation in 1,592 patients -0.4 Rs895819 in MIR27A improves the predictive value of DPYD variants to identify patients at risk of severe fluoropyrimidine-associated toxicity. analysis of sequence variation hsa-mir-27a miRNA Cancer -0.33 ACTTGGTGTG(G > A)ACCCTGCTCA chr19: 13836482 0.993,0.006989 0.98861174821610601,0.01138825178389398 Region score:0.51; TSS score:0.39; Unmatched score:0.73; Average GERP:2.02 GeneName:AC020916.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000267519; TranscriptID:ENST00000587762; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR23A; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207980; TranscriptID:ENST00000385245; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR24-2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284387; TranscriptID:ENST00000386972; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR27A; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207808; TranscriptID:ENST00000385073; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000107447; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ZSWIM4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000132003; TranscriptID:ENST00000254323; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001340 28199695 NONHSAT029276.2 rs2906856 T N/A 84,724 european ancestry individuals EFO_0008378 N/A Associate Mosquito bite size rs2906856-T of NONHSAT029276.2 is significantly associated with the mosquito bite size by using GWAS analysis in 84,724 european ancestry individuals(p-value = 1E-12 ;OR = 0.038755). 0.4 GWAS of self-reported mosquito bite size, itch intensity and attractiveness to mosquitoes implicates immune-related predisposition loci. genome-wide association analysis NONHSAT029276.2 lncRNA Mosquito bite reaction size measurement 0.33 TGAGAACAAA(T > A,C)TGAATGGTGA chr12: 67996421 0.382,.,0.618 0.39927370030581039,0.00009556574923547,0.60063073394495412 Region score:0.17; TSS score:0.07; Unmatched score:0.08; Average GERP:-0.6162772277227722 GeneName:IFNG-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000255733; TranscriptID:ENST00000538665; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RPL39P28; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000244432; TranscriptID:ENST00000465655; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001341 27863252 NONHSAT119065.2 rs6967414 A N/A 173,039 european ancestry individuals EFO_0004348 N/A Associate Hematocrit rs6967414-A of NONHSAT119065.2 is significantly associated with the hematocrit by using GWAS analysis in 173,039 european ancestry individuals(p-value = 1E-10 ;OR = 0.0371133). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT119065.2 lncRNA Hematocrit 0.33 ATCCATGGCA(G > A)TTGAAAAACA chr7: 6710127 0.635,0.365 0.70478147298674821,0.29521852701325178 Region score:0.44; TSS score:0.14; Unmatched score:0.37; Average GERP:0.10031683168316811 GeneName:AC073343.2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000228010; TranscriptID:ENST00000366167; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0742; mirSVR-E:-8.32 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000815989; AnnoType:REGULATORY; mirSVR-Score:-0.0742; mirSVR-E:-8.32 | GeneName:PMS2CL; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000187953; TranscriptID:ENST00000486256; AnnoType:UPSTREAM; mirSVR-Score:-0.0742; mirSVR-E:-8.32 | GeneName:ZNF12; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000164631; TranscriptID:ENST00000405858; AnnoType:UPSTREAM; mirSVR-Score:-0.0742; mirSVR-E:-8.32 | NCRV0000001342 28739976 NONHSAT174835.1 rs7503751 A N/A 150,134 european ancestry individuals; 87,359 european ancestry individuals//140,886 european and unknown ancestry individuals EFO_0000319 N/A Associate Systolic blood pressure rs7503751-A of NONHSAT174835.1 is significantly associated with the systolic blood pressure by using GWAS analysis in 150,134 european ancestry individuals; 87,359 european ancestry individuals//140,886 european and unknown ancestry individuals(p-value = 1E-6 ;OR = 0.701). 0.4 Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.LID - HYPERTENSIONAHA.117.09438 [pii]LID - 10.1161/HYPERTENSIONAHA.117.09438 [doi]AB - Elevated blood pressure genome-wide association analysis NONHSAT174835.1 lncRNA Cardiovascular disease 0.33 GTCACCCGGC(G > A)GCACTCTCTG chr17: 7886224 0.979,0.02097 0.94539213812436289,0.05460786187563710 Region score:0.29; TSS score:0.57; Unmatched score:0.82; Average GERP:0.08593168316831679 GeneName:CHD3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000170004; TranscriptID:ENST00000380358; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NAA38; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000183011; TranscriptID:ENST00000576861; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000090915; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000548632; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001343 22586128 PTCSC3 rs944289 T N/A 46 paired samples of unaffected tissue and PTC tumor EFO_0000641 N/A increasing risk papillary thyroid carcinoma rs944289 -T of PTCSC3 and its dysfunction is significantly associated with the increasing risk of Papillary thyroid carcinoma by using case-control analysis in 46 paired samples of unaffected tissue and PTC tumor 1.4 The polymorphism rs944289 predisposes to papillary thyroid carcinoma through a large intergenic noncoding RNA gene of tumor suppressor type. case-control analysis PTCSC3 lncRNA Papillary thyroid carcinoma 0.753 ATAGTCATTG(C > T)AGATTTGTAA chr14: 36180040 0.607,0.393 0.56618724515800203,0.43381275484199796 Region score:0.41; TSS score:0.36; Unmatched score:0.16; Average GERP:0.2396336633663368 GeneName:PTCSC3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000259104; TranscriptID:ENST00000556013; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001344 20522523 NONHSAT113714.2 rs346291 ? N/A up to 3,445 european ancestry cases//6,935 european ancestry controls EFO_0004263 N/A Associate Partial epilepsies rs346291-? of NONHSAT113714.2 is significantly associated with the partial epilepsies by using GWAS analysis in up to 3,445 european ancestry cases//6,935 european ancestry controls(p-value = 3E-7 ;OR = 1.2). 0.4 Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study. genome-wide association analysis NONHSAT113714.2 lncRNA Partial epilepsy 0.33 AGCAGGACTT(C > T)CCCTAAACCA chr6: 79855119 0.5573,0.4427 0.57146725280326197,0.42853274719673802 Region score:0.27; TSS score:0.13; Unmatched score:0.36; Average GERP:-0.15745544554455435 GeneName:AL132875.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000220918; TranscriptID:ENST00000403623; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001345 28240269 NONHSAT176910.1 rs16971895 A N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0008052 N/A Associate Blood protein levels rs16971895-A of NONHSAT176910.1 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 1E-12 ;OR = 0.7756). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. genome-wide association analysis NONHSAT176910.1 lncRNA C-c motif chemokine 3-like 1 measurement 0.33 CATAATTCAG(G > A)GGTTGCCAAC chr17: 36059035 0.852,0.148 0.86689283893985728,0.13310716106014271 Region score:0.45; TSS score:0.36; Unmatched score:0.25; Average GERP:0.029252475247524758 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000554279; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001346 27863252 NONHSAT170425.1 rs2224234 C N/A 171,643 european ancestry individuals EFO_0004587 N/A Associate Lymphocyte counts rs2224234-C of NONHSAT170425.1 is significantly associated with the lymphocyte counts by using GWAS analysis in 171,643 european ancestry individuals(p-value = 5E-15 ;OR = 0.0355251). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT170425.1 lncRNA Lymphocyte count 0.33 CCTACCCCCC(A > C)ACCCCCAGGC chr14: 102915701 0.636,0.364 0.66267679663608562,0.33732320336391437 Region score:0.39; TSS score:0.41; Unmatched score:0.13; Average GERP:-0.0070990099009901175 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000508284; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000508287; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TRAF3; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000131323; TranscriptID:ENST00000560371; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001347 27863252 NONHSAT163205.1 rs12820863 T N/A 172,275 european ancestry individuals EFO_0004842 N/A Associate Eosinophil counts rs12820863-T of NONHSAT163205.1 is significantly associated with the eosinophil counts by using GWAS analysis in 172,275 european ancestry individuals(p-value = 4E-9 ;OR = 0.02283322). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT163205.1 lncRNA Eosinophil count 0.33 CTGTTGCTGT(C > T)GCTGCTCCTT chr12: 4209557 0.751,0.249 0.73048865953109072,0.26951134046890927 Region score:0.41; TSS score:0.4; Unmatched score:0.19; Average GERP:-1.1639275247524756 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001348 26805783 NONHSAT207053.1 rs75140056 C N/A 12,491 hispanic/latin american individuals; 7,170 hispanic/latin american individuals EFO_0004309 N/A Associate Platelet count rs75140056-C of NONHSAT207053.1 is significantly associated with the platelet count by using GWAS analysis in 12,491 hispanic/latin american individuals; 7,170 hispanic/latin american individuals(p-value = 1E-9 ;OR = 0.151). 0.4 Genome-wide Association Study of Platelet Count Identifies Ancestry-Specific Loci in Hispanic/Latino Americans. genome-wide association analysis NONHSAT207053.1 lncRNA Platelet count 0.33 TTTAATTAAA(C > CAT)GTGTAATTAA chr6: 29640407 0.3377,0.6623 0.38814029051987767,0.61185970948012232 N/A GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000787118; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SUMO2P1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000235238; TranscriptID:ENST00000445436; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001349 28806749 NONHSAT218351.1 rs4738017 G N/A 2,866 european ancestry cases//6,481 european ancestry controls EFO_0001061 N/A Associate Cervical cancer rs4738017-G of NONHSAT218351.1 is significantly associated with the cervical cancer by using GWAS analysis in 2,866 european ancestry cases//6,481 european ancestry controls(p-value = 7E-6 ;OR = 1.174). 0.4 Defining the genetic susceptibility to cervical neoplasia-A genome-wide association study. genome-wide association analysis NONHSAT218351.1 lncRNA Cervical cancer 0.33 CAGAAAACAC(G > T)AGATTAGCAT chr8: 69663895 0.3199,0.6801 0.32290073904179408,0.67709926095820591 Region score:0.41; TSS score:0.36; Unmatched score:0.31; Average GERP:-0.7243037623762375 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000331616; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SLCO5A1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000137571; TranscriptID:ENST00000260126; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SULF1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000137573; TranscriptID:ENST00000260128; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001350 28135244 NONHSAT075223.2 rs34271465 ? N/A 140,882 european ancestry individuals; 190,318 european ancestry individuals EFO_0000319 N/A Associate Systolic blood pressure rs34271465-? of NONHSAT075223.2 is significantly associated with the systolic blood pressure by using GWAS analysis in 140,882 european ancestry individuals; 190,318 european ancestry individuals(p-value = 1E-11 ;OR = 0.317). 0.4 Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk. genome-wide association analysis NONHSAT075223.2 lncRNA Cardiovascular disease 0.33 TGTGGTGGGG(CA > C)AAAAACCCCA chr2: 164656555 0.603,0.397 0.52684601172273190,0.47315398827726809 N/A GeneName:COBLL1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000082438; TranscriptID:ENST00000495084; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001351 28346442 NONHSAT075637.2 rs711830 A N/A 2,966 european ancestry cases//40,941 european ancestry controls EFO_1001516 N/A Associate High-grade serous ovarian cancer rs711830-A of NONHSAT075637.2 is significantly associated with the high-grade serous ovarian cancer by using GWAS analysis in 2,966 european ancestry cases//40,941 european ancestry controls(p-value = 8E-13 ;OR = 1.1268522). 0.4 Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer. genome-wide association analysis NONHSAT075637.2 lncRNA Ovarian serous cancer 0.33 GAGACCCATC(A > G)GCGGCGCGCC chr2: 176172583 0.1815,0.8185 0.23614296636085626,0.76385703363914373 Region score:0.53; TSS score:0.8; Unmatched score:0.84; Average GERP:2.5885445544554457 GeneName:AC009336.2; CADD-Score:2; Consquence:NMD,3_prime_UTR; GeneID:ENSG00000278500; TranscriptID:ENST00000468418; AnnoType:3PRIME_UTR; mirSVR-Score:-0.0979; mirSVR-E:-23.82 | GeneName:HAGLR; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000224189; TranscriptID:ENST00000452365; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0979; mirSVR-E:-23.82 | GeneName:HOXD3; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000128652; TranscriptID:ENST00000410016; AnnoType:3PRIME_UTR; mirSVR-Score:-0.0979; mirSVR-E:-23.82 | NCRV0000001352 27089181 NONHSAT177677.1 rs12961969 A N/A 170,911 european ancestry individuals EFO_0007660 N/A Associate Neuroticism rs12961969-A of NONHSAT177677.1 is significantly associated with the neuroticism by using GWAS analysis in 170,911 european ancestry individuals(p-value = 2E-8 ;OR = 0.024998885). 0.4 Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses. genome-wide association analysis NONHSAT177677.1 lncRNA Neuroticism measurement 0.33 AAATTTGCTT(A > C)TAAGTGGGCT chr18: 37784134 0.1426,0.8574 0.15058772935779816,0.84941227064220183 Region score:0.4; TSS score:0.26; Unmatched score:0.04; Average GERP:1.7672287524752472 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000573487; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001353 29221444 NONHSAT047701.2 rs115620807 ? N/A 345 african american cases//346 african american controls; 137 african american cases//68 african american controls EFO_0004723 N/A Associate Coronary artery calcified atherosclerotic plaque (90 or 130 hu threshold) in type 2 diabetes rs115620807-? of NONHSAT047701.2 is significantly associated with the coronary artery calcified atherosclerotic plaque (90 or 130 hu threshold) in type 2 diabetes by using GWAS analysis in 345 african american cases//346 african american controls; 137 african american cases//68 african american controls(p-value = 7E-6 ;OR = 0.25). 0.4 Genome-wide association study of coronary artery calcified atherosclerotic plaque in African Americans with type 2 diabetes. genome-wide association analysis NONHSAT047701.2 lncRNA Coronary artery calcification 0.33 CAAATACGAA(A > G)AGCAGGTGCT chr15: 80377010 0.9918,0.008187 0.99085754332313965,0.00914245667686034 Region score:0.26; TSS score:0.31; Unmatched score:0.12; Average GERP:-0.583417821782178 GeneName:AC016705.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000259495; TranscriptID:ENST00000559008; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001354 28703219 NONHSAT201363.1 rs1874564 G N/A 470 korean ancestry cases//8,279 korean ancestry controls; 615 korean ancestry cases//605 korean ancestry controls EFO_1002017 N/A Associate Differentiated thyroid cancer rs1874564-G of NONHSAT201363.1 is significantly associated with the differentiated thyroid cancer by using GWAS analysis in 470 korean ancestry cases//8,279 korean ancestry controls; 615 korean ancestry cases//605 korean ancestry controls(p-value = 2E-7 ;OR = 1.31). 0.4 Genome-wide association and expression quantitative trait loci studies identify multiple susceptibility loci for thyroid cancer. genome-wide association analysis NONHSAT201363.1 lncRNA Differentiated thyroid cancer 0.33 AAGGGATGCC(G > A)AGAGTTATAG chr4: 76936952 0.4882,0.5118 0.42365093017329255,0.57634906982670744 Region score:0.41; TSS score:0.4; Unmatched score:0.19; Average GERP:-0.22547029702970292 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001355 27951730 WT1-AS rs7948813 G N/A 313 AML patients EFO_0000222 N/A no significance for prognosis acute myeloid leukemia rs7948813-G of WT1-AS and its dysfunction is not significantly associated with Acute myeloid leukemia by using analysis of sequence variation in 313 AML patients -0.4 Long non-coding RNA GAS5 polymorphism predicts a poor prognosis of acute myeloid leukemia in Chinese patients via affecting hematopoietic reconstitution. analysis of sequence variation WT1-AS lncRNA Acute myeloid leukemia -0.33 CTCTTCATGG(G > A,C)GTTCACTAAA chr11:32452378 0.3425,0.6575 0.45642998216106014,0.54357001783893985 Region score:0.09;TSS score:0.14;Unmatched score:0.14;Average GERP:0.77 GeneName:WT1-AS; CADD_score:2; Consquence:INTRONIC; GeneID:ENSG00000183242; TranscriptID:ENST00000525436; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:WT1-AS; CADD_score:2; Consquence:INTRONIC; GeneID:ENSG00000183242; TranscriptID:ENST00000525436; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001356 27863252 NONHSAT220313.1 rs605642 A N/A 172,378 european ancestry individuals EFO_0007991 N/A Associate Eosinophil percentage of white cells rs605642-A of NONHSAT220313.1 is significantly associated with the eosinophil percentage of white cells by using GWAS analysis in 172,378 european ancestry individuals(p-value = 6E-15 ;OR = 0.02839948). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT220313.1 lncRNA Eosinophil percentage of leukocytes 0.33 GAAATGATGG(C > A)TTTGAAGCTG chr9: 133005082 0.5745,0.4255 0.49752325433231396,0.50247674566768603 Region score:0.28; TSS score:0.52; Unmatched score:0.34; Average GERP:-0.9401170297029703 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001357 23453885 NONHSAT179116.1 rs12966547 ? N/A 6,990 european ancestry bipolar disorder cases//9,227 european ancestry major depressive disorder cases//9,379 european ancestry schizophrenia cases//161 european ancestry autism spectrum disorder cases//4,788 european ancestry autism spectrum disorder trio cases//840 european ancestry attention deficit-hyperactivity disorder cases//1,947 european ancestry attention defcit-hyperactivity disorder trio cases//27,888 european ancestry controls EFO_0000677 N/A Associate Autism spectrum disorder//attention deficit-hyperactivity disorder//bipolar disorder//major depressive disorder//and schizophrenia (combined) rs12966547-? of NONHSAT179116.1 is significantly associated with the autism spectrum disorder//attention deficit-hyperactivity disorder//bipolar disorder//major depressive disorder//and schizophrenia (combined) by using GWAS analysis in 6,990 european ancestry bipolar disorder cases//9,227 european ancestry major depressive disorder cases//9,379 european ancestry schizophrenia cases//161 european ancestry autism spectrum disorder cases//4,788 european ancestry autism spectrum disorder trio cases//840 european ancestry attention deficit-hyperactivity disorder cases//1,947 european ancestry attention defcit-hyperactivity disorder trio cases//27,888 european ancestry controls(p-value = 3E-10 ;OR = ?). 0.4 Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis. genome-wide association analysis NONHSAT179116.1 lncRNA Mental or behavioural disorder 0.33 ATAGGACAAG(G > A)ATAGTAAGTC chr18: 55084786 0.6066,0.3934 0.59175904689092762,0.40824095310907237 Region score:0.34; TSS score:0.46; Unmatched score:0.28; Average GERP:2.385520792079209 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000103500; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001358 24888363 MIR137 rs1198588 A N/A 345 BD patients, 426 SZ patients and 1376 healthy individuals, all unrelated, in V?sterbotten region of Northern Sweden EFO_0000692 N/A decreasing risk schizophrenia rs1198588-A of hsa-mir-137 and its dysfunction is significantly associated with the decreasing risk of Schizophrenia by using case-control analysis in 345 BD patients, 426 SZ patients and 1376 healthy individuals, all unrelated, in V?sterbotten region of Northern Sweden 0.4 MIR137 variants identified in psychiatric patients affect synaptogenesis and neuronal transmission gene sets. case-control analysis hsa-mir-137 miRNA Schizophrenia 0.33 TGGGCTACTA(A > T)TCTCATTCAG chr1: 98087276 0.2033,0.7967 0.21046763506625891,0.78953236493374108 Region score:0.34; TSS score:0.31; Unmatched score:0.16; Average GERP:-0.21871188118811882 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001359 19915575 NONHSAT156016.1 rs17115100 G N/A 1,713 european ancestry cases//3,978 european ancestry controls; 3,361 european ancestry cases//4,573 european ancestry controls EFO_0002508 N/A Associate Parkinson's disease rs17115100-G of NONHSAT156016.1 is significantly associated with the parkinson's disease by using GWAS analysis in 1,713 european ancestry cases//3,978 european ancestry controls; 3,361 european ancestry cases//4,573 european ancestry controls(p-value = 7E-8 ;OR = 1.25). 0.4 Genome-wide association study reveals genetic risk underlying Parkinson's disease. genome-wide association analysis NONHSAT156016.1 lncRNA Parkinson's disease 0.33 AAGAGGAAAA(G > T)TGGGTCTGGG chr10: 102831636 0.8203,0.1797 0.88643603465851172,0.11356396534148827 Region score:0.33; TSS score:0.4; Unmatched score:0.83; Average GERP:-0.42097029702970284 GeneName:CYP17A1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000148795; TranscriptID:ENST00000369887; AnnoType:INTRONIC; mirSVR-Score:-0.0035; mirSVR-E:-15.12 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000414259; AnnoType:REGULATORY; mirSVR-Score:-0.0035; mirSVR-E:-15.12 | GeneName:WBP1L; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000166272; TranscriptID:ENST00000369884; AnnoType:UPSTREAM; mirSVR-Score:-0.0035; mirSVR-E:-15.12 | NCRV0000001360 26053186 NONHSAT074724.2 rs73962318 ? N/A 361 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//440 european ancestry current smoker individuals//452 latino current smoker individuals//702 japanese ancestry current smoker individuals EFO_0001071 in smokers Associate 3-hydroxy-1-methylpropylmercapturic acid levels in smokers rs73962318-? of NONHSAT074724.2 is significantly associated with the 3-hydroxy-1-methylpropylmercapturic acid levels in smokers by using GWAS analysis in 361 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//440 european ancestry current smoker individuals//452 latino current smoker individuals//702 japanese ancestry current smoker individuals(p-value = 6E-7 ;OR = 0.3471). 0.4 Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer. genome-wide association analysis NONHSAT074724.2 lncRNA Lung cancer 0.33 GCTATATATT(T > C)GTTAGGGGGT chr2: 143097365 0.9561,0.04393 0.95628663353720693,0.04371336646279306 Region score:0.3; TSS score:0.19; Unmatched score:0.53; Average GERP:-0.19664356435643568 GeneName:AC013437.2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000284167; TranscriptID:ENST00000639587; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ARHGAP15; CADD-Score:2; Consquence:intron; GeneID:ENSG00000075884; TranscriptID:ENST00000409869; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MTCO2P5; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000231766; TranscriptID:ENST00000422621; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MTCO3P5; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000225476; TranscriptID:ENST00000433620; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MTCYBP11; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000224288; TranscriptID:ENST00000447254; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MTND3P9; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000227557; TranscriptID:ENST00000429526; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MTND4LP12; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000236300; TranscriptID:ENST00000448237; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MTND4P22; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000232772; TranscriptID:ENST00000413116; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MTND5P24; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000224852; TranscriptID:ENST00000438892; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MTND6P11; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000226839; TranscriptID:ENST00000431890; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001361 25387704 NONHSAT193899.1 rs9311474 ? N/A 2,383 european ancestry adolescents and 1,643 european ancestry adults from 1,613 families EFO_0000677 N/A Associate Electroencephalogram traits rs9311474-? of NONHSAT193899.1 is significantly associated with the electroencephalogram traits by using GWAS analysis in 2,383 european ancestry adolescents and 1,643 european ancestry adults from 1,613 families(p-value = 9E-6 ;OR = 0.094). 0.4 Heritability and molecular-genetic basis of resting EEG activity: a genome-wide association study. genome-wide association analysis NONHSAT193899.1 lncRNA Mental or behavioural disorder 0.33 AAGACTAAAA(T > C)CCCCTTATTT chr3: 52304836 0.4906,0.5094 0.46852701325178389,0.53147298674821610 Region score:0.45; TSS score:0.36; Unmatched score:0.19; Average GERP:-0.4384009900990099 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001362 21738478 NONHSAT208069.1 rs9373124 T N/A 8,794 japanese ancestry individuals; 5,998 japanese ancestry individuals EFO_0004842 N/A Associate White blood cell types rs9373124-T of NONHSAT208069.1 is significantly associated with the white blood cell types by using GWAS analysis in 8,794 japanese ancestry individuals; 5,998 japanese ancestry individuals(p-value = 1E-10 ;OR = 0.08). 0.4 Identification of nine novel loci associated with white blood cell subtypes in a Japanese population. genome-wide association analysis NONHSAT208069.1 lncRNA Eosinophil count 0.33 ATCCATTTGT(T > C)CATGAACATT chr6: 135102071 0.6965,0.3035 0.66739137359836901,0.33260862640163098 Region score:0.22; TSS score:0.13; Unmatched score:0.31; Average GERP:-0.6178811881188119 GeneName:HBS1L; CADD-Score:2; Consquence:intron; GeneID:ENSG00000112339; TranscriptID:ENST00000529882; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000806349; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001363 21399635 NONHSAT196511.1 rs485499 T N/A 1,840 european ancestry cases//5,163 european ancestry controls and (liu et al); 620 european ancestry cases//2,514 european ancestry controls EFO_0004267 N/A Associate Primary biliary cholangitis rs485499-T of NONHSAT196511.1 is significantly associated with the primary biliary cholangitis by using GWAS analysis in 1,840 european ancestry cases//5,163 european ancestry controls and (liu et al); 620 european ancestry cases//2,514 european ancestry controls(p-value = 2E-16 ;OR = 1.38). 0.4 Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis. genome-wide association analysis NONHSAT196511.1 lncRNA Biliary liver cirrhosis 0.33 GGTAAACTCA(T > C)GTCCCAGTTT chr3: 160028076 0.8207,0.1793 0.71319125891946992,0.28680874108053007 Region score:0.33; TSS score:0.39; Unmatched score:0.49; Average GERP:-0.2576613861386138 GeneName:IL12A-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000244040; TranscriptID:ENST00000642756; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LINC01100; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000242107; TranscriptID:ENST00000471921; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001364 21428769 NONHSAT207064.1 rs1061235 ? N/A 65 european ancestry cases//3,987 european ancestry controls; 80 european ancestry cases//257 european ancestry controls GO_0036277 N/A Associate Adverse response to carbamapezine rs1061235-? of NONHSAT207064.1 is significantly associated with the adverse response to carbamapezine by using GWAS analysis in 65 european ancestry cases//3,987 european ancestry controls; 80 european ancestry cases//257 european ancestry controls(p-value = 1E-7 ;OR = 9.12). 0.4 HLA-A*3101 and carbamazepine-induced hypersensitivity reactions in Europeans. genome-wide association analysis NONHSAT207064.1 lncRNA Response to anticonvulsant 0.33 TGACTTGAAG(A > T)ACCCTGACTT chr6: 29945521 0.9149,0.08506 0.96398764016309887,0.03601235983690112 Region score:0.48; TSS score:0.61; Unmatched score:0.71; Average GERP:-0.9184049504950497 GeneName:AL671277.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000227766; TranscriptID:ENST00000429656; AnnoType:UPSTREAM; mirSVR-Score:-0.6313; mirSVR-E:-14.45 | GeneName:HLA-A; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000206503; TranscriptID:ENST00000396634; AnnoType:3PRIME_UTR; mirSVR-Score:-0.6313; mirSVR-E:-14.45 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000195346; AnnoType:REGULATORY; mirSVR-Score:-0.6313; mirSVR-E:-14.45 | NCRV0000001365 27863252 NONHSAT126295.2 rs2923427 C N/A 172,433 european ancestry individuals EFO_0004526 N/A Associate Mean corpuscular volume rs2923427-C of NONHSAT126295.2 is significantly associated with the mean corpuscular volume by using GWAS analysis in 172,433 european ancestry individuals(p-value = 1E-19 ;OR = 0.0325949). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT126295.2 lncRNA Mean corpuscular volume 0.33 TTGAGAATGG(A > C)TTTATGGAAG chr8: 42530605 0.4774,0.5226 0.46139143730886850,0.53860856269113149 Region score:0.35; TSS score:0.11; Unmatched score:0.08; Average GERP:0.0830930693069307 GeneName:SLC20A2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000168575; TranscriptID:ENST00000342228; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001366 24701036 miR-146a rs57095329 G N/A 226 sepsis cases and 206 healthy controls in a Chinese Han population HP_0100806 N/A no significance for risk Sepsis rs57095329-G of hsa-mir-146a and its dysfunction is not significantly associated with Sepsis by using case-control analysis in 226 sepsis cases and 206 healthy controls in a Chinese Han population -0.4 The functional polymorphisms of miR-146a are associated with susceptibility to severe sepsis in the Chinese population. case-control analysis hsa-mir-146a miRNA Sepsis -0.33 GAGAGTACAG(A > G)CAGGAAGCCT chr5: 160467840 0.8572,0.1428 0.91701707441386340,0.08298292558613659 Region score:0.55; TSS score:0.62; Unmatched score:0.87; Average GERP:3.053772277227722 GeneName:MIR3142HG; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775866; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001367 21507922 NONHSAT173701.1 rs4968031 ? N/A 115 african ancestry hiv-negative individuals EFO_0004309 N/A Associate Platelet count rs4968031-? of NONHSAT173701.1 is significantly associated with the platelet count by using GWAS analysis in 115 african ancestry hiv-negative individuals(p-value = 1E-6 ;OR = ?). 0.4 Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women. genome-wide association analysis NONHSAT173701.1 lncRNA Platelet count 0.33 ATTCCAACAA(G > A)GACTCCCAAA chr16: 23754453 0.9191,0.08087 0.91996368501529051,0.08003631498470948 Region score:0.33; TSS score:0.44; Unmatched score:0.83; Average GERP:-1.2187742574257427 GeneName:AC012317.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000279756; TranscriptID:ENST00000623305; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CHP2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000166869; TranscriptID:ENST00000300113; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001368 24618566 miR-449b rs10061133 G dominant 213 B-cell ALL patients and 387 controls EFO_1001947 N/A decreasing risk childhood T acute lymphoblastic leukemia rs10061133-G of hsa-mir-449b and its dysfunction is significantly associated with the decreasing risk of Childhood t acute lymphoblastic leukemia by using case-control analysis in 213 B-cell ALL patients and 387 controls 0.4 Noncoding RNA-related polymorphisms in pediatric acute lymphoblastic leukemia susceptibility. case-control analysis hsa-mir-449b miRNA Childhood t acute lymphoblastic leukemia 0.33 GCCAGCTAAC(A > G)ATACACTGCC chr5: 55170716 0.8778,0.1222 0.90871081804281345,0.09128918195718654 Region score:0.74; TSS score:0.59; Unmatched score:0.74; Average GERP:2.2918118811881194 GeneName:CDC20B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000164287; TranscriptID:ENST00000381375; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GPX8; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000164294; TranscriptID:ENST00000296734; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR449A; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000198983; TranscriptID:ENST00000362113; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR449B; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207728; TranscriptID:ENST00000384995; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR449C; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000251856; TranscriptID:ENST00000516047; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001369 23006423 NONHSAT063953.2 rs7260598 ? N/A 96 african american lymphoblastoid cell lines//96 european ancestry lymphoblastoid cell lines//96 han chinese ancestry lymphoblastoid cell lines GO_1901555 EFO_0007804 Associate Response to taxane treatment (placlitaxel) rs7260598-? of NONHSAT063953.2 is significantly associated with the response to taxane treatment (placlitaxel) by using GWAS analysis in 96 african american lymphoblastoid cell lines//96 european ancestry lymphoblastoid cell lines//96 han chinese ancestry lymphoblastoid cell lines(p-value = 6E-6 ;OR = ?). 0.4 Genetic association with overall survival of taxane-treated lung cancer patients - a genome-wide association study in human lymphoblastoid cell lines followed by a clinical association study. genome-wide association analysis NONHSAT063953.2 lncRNA Response to paclitaxel 0.33 TGCAAAATAG(A > G)GAAGAGGCTT chr19: 24039984 0.8496,0.1504 0.83952121559633027,0.16047878440366972 Region score:0.21; TSS score:0.08; Unmatched score:0.05; Average GERP:-0.09735643564356442 GeneName:AC092279.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000268362; TranscriptID:ENST00000597683; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ZNF254; CADD-Score:2; Consquence:intron; GeneID:ENSG00000213096; TranscriptID:ENST00000613065; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001370 25865494 NONHSAT059153.2 rs16958440 G N/A 3,545 african americans individuals//12,965 european ancestry women//8,625 european ancestry men EFO_0007118 N/A Associate Sitting height ratio rs16958440-G of NONHSAT059153.2 is significantly associated with the sitting height ratio by using GWAS analysis in 3,545 african americans individuals//12,965 european ancestry women//8,625 european ancestry men(p-value = 4E-6 ;OR = 0.085). 0.4 Genome-wide Analysis of Body Proportion Classifies Height-Associated Variants by Mechanism of Action and Implicates Genes Important for Skeletal Development. genome-wide association analysis NONHSAT059153.2 lncRNA Sitting height ratio 0.33 TGATGAAACT(C > G)AAATTTAACT chr18: 47106513 0.9283,0.07169 0.93710977319062181,0.06289022680937818 Region score:0.35; TSS score:0.32; Unmatched score:0.16; Average GERP:0.09196435643564342 GeneName:AC012254.2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000267228; TranscriptID:ENST00000602459; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC012254.3; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000267724; TranscriptID:ENST00000591183; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HDHD2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000167220; TranscriptID:ENST00000300605; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:KATNAL2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000167216; TranscriptID:ENST00000245121; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001371 28604730 NONHSAT201501.1 rs11941078 C N/A 29,266 european ancestry cases//56,450 european ancestry controls EFO_0001071 N/A Associate Lung cancer rs11941078-C of NONHSAT201501.1 is significantly associated with the lung cancer by using GWAS analysis in 29,266 european ancestry cases//56,450 european ancestry controls(p-value = 2E-6 ;OR = 1.1084317). 0.4 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. genome-wide association analysis NONHSAT201501.1 lncRNA Lung cancer 0.33 CTTTGGTTCT(G > C)TGTCCCCACC chr4: 110592565 0.8361,0.1639 0.82384843272171253,0.17615156727828746 Region score:0.43; TSS score:0.1; Unmatched score:0.04; Average GERP:0.2978415841584162 GeneName:PANCR; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250103; TranscriptID:ENST00000513690; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001372 25231870 NONHSAT150370.1 rs951366 T N/A up to 182,413 european ancestry females EFO_0004703 N/A Associate Menarche (age at onset) rs951366-T of NONHSAT150370.1 is significantly associated with the menarche (age at onset) by using GWAS analysis in up to 182,413 european ancestry females(p-value = 2E-8 ;OR = 0.03). 0.4 Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. genome-wide association analysis NONHSAT150370.1 lncRNA Age at menarche 0.33 CAACTGAGGC(T > C)GAAGTTTTAA chr1: 205716224 0.6687,0.3313 0.65967443934760448,0.34032556065239551 Region score:0.48; TSS score:0.61; Unmatched score:0.76; Average GERP:0.8238009900990105 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000384154; AnnoType:REGULATORY; mirSVR-Score:-0.2845; mirSVR-E:-14.58 | GeneName:NUCKS1; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000069275; TranscriptID:ENST00000367142; AnnoType:3PRIME_UTR; mirSVR-Score:-0.2845; mirSVR-E:-14.58 | NCRV0000001373 29228715 NONHSAT208751.1 rs742223 ? N/A 978 austrian ancestry colorectal cancer cases//636 austrian ancestry advanced colorectal adenoma cases//4,294 european ancestry controls EFO_0005842 N/A Associate Colorectal cancer rs742223-? of NONHSAT208751.1 is significantly associated with the colorectal cancer by using GWAS analysis in 978 austrian ancestry colorectal cancer cases//636 austrian ancestry advanced colorectal adenoma cases//4,294 european ancestry controls(p-value = 5E-7 ;OR = 1.6647245). 0.4 Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas. genome-wide association analysis NONHSAT208751.1 lncRNA Colorectal cancer 0.33 GTTCCTCTGT(G > A)AATTGGCAGG chr6: 11705467 0.9577,0.04233 0.95290997706422018,0.04709002293577981 Region score:0.45; TSS score:0.3; Unmatched score:0.23; Average GERP:-0.43856633663366346 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000783136; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF00272; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207419; TranscriptID:ENST00000384688; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001374 24927181 NONHSAT022207.2 rs478304 T N/A 1,893 european ancestry cases//5,132 european ancestry controls; 2,063 european ancestry cases//1,970 european ancestry controls EFO_0003894 N/A Associate Acne (severe) rs478304-T of NONHSAT022207.2 is significantly associated with the acne (severe) by using GWAS analysis in 1,893 european ancestry cases//5,132 european ancestry controls; 2,063 european ancestry cases//1,970 european ancestry controls(p-value = 3E-11 ;OR = 1.2). 0.4 Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris. genome-wide association analysis NONHSAT022207.2 lncRNA Acne 0.33 TTCTCCCAGA(G > T)CAGAACATAC chr11: 65726789 0.483,0.517 0.44621241080530071,0.55378758919469928 Region score:0.32; TSS score:0.14; Unmatched score:0.22; Average GERP:0.03959405940594059 GeneName:KRT8P26; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000214659; TranscriptID:ENST00000534154; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000264467; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000432779; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001375 26077951 NONHSAT175269.1 rs393152 ? N/A 152 cases//3,111 controls; 67 cases//457 controls Orphanet_278 N/A Associate Corticobasal degeneration rs393152-? of NONHSAT175269.1 is significantly associated with the corticobasal degeneration by using GWAS analysis in 152 cases//3,111 controls; 67 cases//457 controls(p-value = 1E-12 ;OR = 3.7). 0.4 Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy. genome-wide association analysis NONHSAT175269.1 lncRNA Corticobasal degeneration 0.33 AGGAGAGGAT(A > G)TGAGGAAAGA chr17: 45641777 0.7524,0.2476 0.70132517838939857,0.29867482161060142 Region score:0.45; TSS score:0.26; Unmatched score:0.43; Average GERP:-0.7131821782178223 GeneName:LINC02210; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000204650; TranscriptID:ENST00000591271; AnnoType:INTRONIC; mirSVR-Score:-0.0572; mirSVR-E:-14.85 | GeneName:LINC02210-CRHR1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000263715; TranscriptID:ENST00000634540; AnnoType:INTRONIC; mirSVR-Score:-0.0572; mirSVR-E:-14.85 | NCRV0000001376 27989323 NONHSAT178889.1 rs78434584 G N/A 3,494 finnish ancestry individuals EFO_0005140 N/A Associate Macrophage migration inhibitory factor levels rs78434584-G of NONHSAT178889.1 is significantly associated with the macrophage migration inhibitory factor levels by using GWAS analysis in 3,494 finnish ancestry individuals(p-value = 6E-7 ;OR = 0.5077). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. genome-wide association analysis NONHSAT178889.1 lncRNA Autoimmune disease 0.33 GCATTAGGAC(A > G)AATACCTAGT chr18: 24615938 0.9936,0.00639 0.99826388888888888,0.00173611111111111 Region score:0.1; TSS score:0.06; Unmatched score:0; Average GERP:0.011500000000000007 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001377 29093273 NONHSAT185899.1 rs150495482 T N/A 3,344 swedish ancestry individuals; 4,905 finnish ancestry individuals EFO_0001360 N/A Associate Glp-1 levels in response to oral glucose tolerance test (fasting) rs150495482-T of NONHSAT185899.1 is significantly associated with the glp-1 levels in response to oral glucose tolerance test (fasting) by using GWAS analysis in 3,344 swedish ancestry individuals; 4,905 finnish ancestry individuals(p-value = 2E-6 ;OR = 0.559). 0.4 Genetic determinants of circulating GIP and GLP-1 concentrations.LID - 10.1172/jci.insight.93306 [doi]LID - 93306 [pii]AB - The secretion of insulin and glucagon from the pancreas and the incretin hormones glucagon-like peptide-1 (GLP-1) and gl genome-wide association analysis NONHSAT185899.1 lncRNA Type ii diabetes mellitus 0.33 GATGCAAAGG(C > T)ACCACAAAAG chr2: 173017191 0.9988,0.001198 0.99890099388379204,0.00109900611620795 Region score:0.4; TSS score:0.35; Unmatched score:0.56; Average GERP:1.765066633663365 GeneName:RAPGEF4; CADD-Score:7; Consquence:missense; GeneID:ENSG00000091428; TranscriptID:ENST00000397081; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001378 22778062 SNORD114-6 rs12432711 A N/a N/a function N/A Not significant changes in the structure Function rs12432711-A of SNORD114-6 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD114-6 snoRNA Function -0.049 TCCACTGGTG(G > A)CGTATAAATC chr14: 100957189 N/A RS=12432711;RSPOS=100957189;dbSNPBuildID=120;SSR=0;SAO=0;VP=0x050000080005000002000100;GENEINFO=SNORD114-6:767582|MEG8:79104;WGT=1;VC=SNV;INT;ASP Region score:0.44; TSS score:0.21; Unmatched score:0.65; Average GERP:-0.7874703960396042 GeneName:MEG8; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000225746; TranscriptID:ENST00000638012; AnnoType:INTRONIC; mirSVR-Score:-0.0637; mirSVR-E:-9.65 | GeneName:RF00181; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000200150; TranscriptID:ENST00000363280; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0637; mirSVR-E:-9.65 | GeneName:SNORD114-3; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000201839; TranscriptID:ENST00000364969; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0637; mirSVR-E:-9.65 | GeneName:SNORD114-4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000200832; TranscriptID:ENST00000363962; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0637; mirSVR-E:-9.65 | GeneName:SNORD114-5; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000199798; TranscriptID:ENST00000362928; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0637; mirSVR-E:-9.65 | GeneName:SNORD114-6; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000201263; TranscriptID:ENST00000364393; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0637; mirSVR-E:-9.65 | NCRV0000001379 21471979 NONHSAT165404.1 rs7097 ? N/A 74 japanese ancestry cases//934 japanese ancestry controls; 325 japanese ancestry cases//3,309 japanese ancestry controls EFO_0000403 N/A Associate Large b-cell lymphoma rs7097-? of NONHSAT165404.1 is significantly associated with the large b-cell lymphoma by using GWAS analysis in 74 japanese ancestry cases//934 japanese ancestry controls; 325 japanese ancestry cases//3,309 japanese ancestry controls(p-value = 7E-6 ;OR = 1.44). 0.4 Common variants on 14q32 and 13q12 are associated with DLBCL susceptibility. genome-wide association analysis NONHSAT165404.1 lncRNA Diffuse large b-cell lymphoma 0.33 TATTCTCTTC(C > T)TGATGGTGCA chr13: 27623299 0.6707,0.3293 0.68429854740061162,0.31570145259938837 Region score:0.53; TSS score:0.42; Unmatched score:0.7; Average GERP:-0.016898019801980142 GeneName:LNX2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000139517; TranscriptID:ENST00000316334; AnnoType:UPSTREAM; mirSVR-Score:-0.9394; mirSVR-E:-19.66 | GeneName:POLR1D; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000186184; TranscriptID:ENST00000302979; AnnoType:3PRIME_UTR; mirSVR-Score:-0.9394; mirSVR-E:-19.66 | NCRV0000001380 23111177 CDKN2B-AS1 rs3217992 A Dominant 976 poag cases from the glaucoma genes and environment (glaugen) study and 1971 cases from the national eye institute glaucoma human genetics collaboration (neighbor) consortium EFO_0004190 N/A Increasing risk Primary open-angle glaucoma rs3217992-A of CDKN2B-AS1 and its dysfunction is significantly associated with the increasing risk of primary open-angle glaucoma by using case-control analysis in 976 POAG cases from the Glaucoma Genes and Environment (GLAUGEN) study and 1971 cases from the National Eye Institute Glaucoma Human Genetics Collaboration (NEIGHBOR) consortium. 0.4 CDKN2B-AS1 genotype-glaucoma feature correlations in primary open-angle glaucoma patients from the United States. case-control analysis CDKN2B-AS1 lncRNA Open-angle glaucoma 0.33 GTTACTATTT(C > T)AATACAACCA chr9: 22003224 0.6518,0.3482 0.68169438073394495,0.31830561926605504 Region score:0.31; TSS score:0.58; Unmatched score:0.6; Average GERP:0.09521069306930703 GeneName:AL359922.1; CADD-Score:2; Consquence:intron,NMD; GeneID:ENSG00000264545; TranscriptID:ENST00000404796; AnnoType:INTRONIC; mirSVR-Score:-0.8842; mirSVR-E:-7.50 | GeneName:CDKN2B-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000240498; TranscriptID:ENST00000428597; AnnoType:INTRONIC; mirSVR-Score:-0.8842; mirSVR-E:-7.50 | GeneName:CDKN2B; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000147883; TranscriptID:ENST00000276925; AnnoType:3PRIME_UTR; mirSVR-Score:-0.8842; mirSVR-E:-7.50 | NCRV0000001381 26634245 NONHSAT206431.1 rs187769864 A N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio rs187769864-A of NONHSAT206431.1 is significantly associated with the post bronchodilator fev1/fvc ratio by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 2E-6 ;OR = 0.613). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT206431.1 lncRNA Pulmonary function measurement 0.33 GCTCGCTGGC(G > A)GCGTGTGGAA chr5: 151632752 0.9998,0.0001997 0.99993628950050968,0.00006371049949031 Region score:0.5; TSS score:0.48; Unmatched score:0.44; Average GERP:0.02679504950495062 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000774077; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001382 24376456 NONHSAT154717.1 rs16849553 C N/A up to 6,882 individuals EFO_0006340 alcohol consumption interaction Associate Mean arterial pressure (alcohol consumption interaction) rs16849553-C of NONHSAT154717.1 is significantly associated with the mean arterial pressure (alcohol consumption interaction) by using GWAS analysis in up to 6,882 individuals(p-value = 7E-7 ;OR = 1.452). 0.4 Gene-alcohol interactions identify several novel blood pressure loci including a promising locus near SLC16A9. genome-wide association analysis NONHSAT154717.1 lncRNA Mean arterial pressure 0.33 TACATTCATT(T > C)GTCATGCATT chr1: 229201099 0.9619,0.03814 0.96217985474006116,0.03782014525993883 Region score:0.42; TSS score:0.35; Unmatched score:0.1; Average GERP:-0.022248514851485206 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001383 27989323 NONHSAT170320.1 rs146748084 T N/A 3,494 finnish ancestry individuals EFO_0005140 N/A Associate Macrophage migration inhibitory factor levels rs146748084-T of NONHSAT170320.1 is significantly associated with the macrophage migration inhibitory factor levels by using GWAS analysis in 3,494 finnish ancestry individuals(p-value = 8E-6 ;OR = 0.5404). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. genome-wide association analysis NONHSAT170320.1 lncRNA Autoimmune disease 0.33 ATGGTGGCTT(A > T)CTCCTGTAAT chr14: 93892425 0.9968,0.003195 0.99462442660550458,0.00537557339449541 Region score:0.34; TSS score:0.32; Unmatched score:0.12; Average GERP:-0.12197524752475268 GeneName:AL132642.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000279593; TranscriptID:ENST00000623423; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000275861; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000505945; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001384 26503763 NONHSAT189136.1 rs73918339 C N/A 1,639 european ancestry responder cases//1,059 european ancestry non-responder cases EFO_0000289 N/A Associate Subjective response to lithium treatment in bipolar disorder rs73918339-C of NONHSAT189136.1 is significantly associated with the subjective response to lithium treatment in bipolar disorder by using GWAS analysis in 1,639 european ancestry responder cases//1,059 european ancestry non-responder cases(p-value = 4E-7 ;OR = 1.79). 0.4 Genome-wide association study identifies SESTD1 as a novel risk gene for lithium-responsive bipolar disorder. genome-wide association analysis NONHSAT189136.1 lncRNA Bipolar disorder 0.33 GGCACAACAC(T > C)GGGAAGACCC chr20: 62608205 0.9487,0.05132 0.93116876911314984,0.06883123088685015 Region score:0.22; TSS score:0.23; Unmatched score:0.2; Average GERP:-0.08843564356435653 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001385 18951430 NONHSAT153538.1 rs2180233 C N/A 938 european ancestry trios EFO_0003888 N/A Associate Attention deficit hyperactivity disorder and conduct disorder rs2180233-C of NONHSAT153538.1 is significantly associated with the attention deficit hyperactivity disorder and conduct disorder by using GWAS analysis in 938 european ancestry trios(p-value = 9E-6 ;OR = ?). 0.4 Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study. genome-wide association analysis NONHSAT153538.1 lncRNA Attention deficit hyperactivity disorder 0.33 AATCAAAAAA(C > T)ACACTCAAAT chr1: 30154865 0.1326,0.8674 0.21287270642201834,0.78712729357798165 Region score:0.36; TSS score:0.25; Unmatched score:0.07; Average GERP:-0.6277247524752473 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001386 27651454 miR-125a rs12975333 T N/A breast cancer EFO_0000305 N/A increasing risk breast carcinoma rs12975333-T of hsa-mir-125a and its dysfunction is significantly associated with the increasing risk of Breast carcinoma by using analysis of sequence variation in breast cancer 1.4 Structural dynamics control the MicroRNA maturation pathway. analysis of sequence variation hsa-mir-125a miRNA Breast carcinoma 0.753 AGGTCCCTGA(G > T)ACCCTTTAAC chr19: 51693275 0 RS=12975333;RSPOS=51693275;dbSNPBuildID=121;SSR=0;SAO=0;VP=0x0500284e0005000502000100;GENEINFO=SPACA6:147650|MIR125A:406910|SPACA6P-AS:102238594|MIRLET7E:406887;WGT=1;VC=SNV;PM;PMC;U5;INT;R3;R5;ASP;HD;GNO Region score:0.78; TSS score:0.84; Unmatched score:0.91; Average GERP:1.0796881188118812 GeneName:MIR125A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000208008; TranscriptID:ENST00000385273; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR99B; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207550; TranscriptID:ENST00000384819; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIRLET7E; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000198972; TranscriptID:ENST00000362102; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SPACA6; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000182310; TranscriptID:ENST00000637797; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SPACA6P-AS; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000269959; TranscriptID:ENST00000602324; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001387 26379361 miR219-1 rs213210 C N/A 248 Kazakh esophageal squamous cell carcinoma (ESCC) cases and 300 frequency-matched control subjects EFO_0005922 N/A no significance for risk esophageal squamous cell carcinoma rs213210-C of hsa-mir-219a-1 and its dysfunction is not significantly associated with Esophageal squamous cell carcinoma by using case-control analysis in 248 Kazakh esophageal squamous cell carcinoma (ESCC) cases and 300 frequency-matched control subjects -0.4 A Genetic Variant in miRNA-219-1 Is Associated with Risk of Esophageal Squamous Cell Carcinoma in Chinese Kazakhs. case-control analysis hsa-mir-219a-1 miRNA Esophageal squamous cell carcinoma 0 GTGTGTTCTC(A > C,G)GGACTAGAAG chr6: 33208047 0.8251,.,0.1749 0.89192310142711518,0.00001592762487257,0.10806097094801223 Region score:0.27; TSS score:0.57; Unmatched score:0.93; Average GERP:-0.5706584158415842 GeneName:HSD17B8; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000204228; TranscriptID:ENST00000374662; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR219A1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000199036; TranscriptID:ENST00000362166; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000195766; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RING1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000204227; TranscriptID:ENST00000374656; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SLC39A7; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000112473; TranscriptID:ENST00000374677; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001387 24205249 miR-219-1 rs213210 G N/a In the black ancestry group, 368 cases and 583 controls were recruited, whereas 197 cases and 420 controls were of mixed ancestry. EFO_0005922 N/A Decreasing risk Esophageal squamous cell carcinoma rs213210-G of miR-219-1 and its dysfunction is significantly associated with the decreasing risk of esophageal squamous cell carcinoma by using case-control analysis in In the Black ancestry group, 368 cases and 583 controls were recruited, whereas 197 cases and 420 controls were of Mixed Ancestry. . 0.4 MicroRNA polymorphisms and environmental smoke exposure as risk factors for oesophageal squamous cell carcinoma. case-control analysis hsa-mir-219a-1 miRNA Esophageal squamous cell cancer 0 GTGTGTTCTC(A > C,G)GGACTAGAAG chr6: 33208047 0.8251,.,0.1749 0.89192310142711518,0.00001592762487257,0.10806097094801223 Region score:0.27; TSS score:0.57; Unmatched score:0.93; Average GERP:-0.5706584158415842 GeneName:HSD17B8; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000204228; TranscriptID:ENST00000374662; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR219A1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000199036; TranscriptID:ENST00000362166; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000195766; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RING1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000204227; TranscriptID:ENST00000374656; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SLC39A7; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000112473; TranscriptID:ENST00000374677; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001388 28159929 POLR2E rs3787016 T Dominant several case-control studies EFO_0000311 N/A decreasing risk cancer rs3787016-T of POLR2E and its dysfunction is significantly associated with the decreasing risk of Cancer by using meta-analysis in several case-control studies 0.4 The HOTAIR, PRNCR1 and POLR2E polymorphisms are associated with cancer risk: a meta-analysis. meta-analysis POLR2E lncRNA Cancer 0.33 ATGCACTAAT(A > G)GGAACACCTG chr19: 1090804 0.266,0.734 0.23195400101936799,0.76804599898063200 Region score:0.21; TSS score:0.14; Unmatched score:0.16; Average GERP:-1.0606237623762376 GeneName:ARHGAP45; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180448; TranscriptID:ENST00000539243; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:POLR2E; CADD-Score:2; Consquence:intron; GeneID:ENSG00000099817; TranscriptID:ENST00000615234; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001389 25188341 NONHSAT179793.1 rs429358 C N/A up to 3,526 individuals EFO_0006792 N/A Associate Lewy body disease rs429358-C of NONHSAT179793.1 is significantly associated with the lewy body disease by using GWAS analysis in up to 3,526 individuals(p-value = 1E-12 ;OR = 0.4997). 0.4 Genome-wide association meta-analysis of neuropathologic features of Alzheimer's disease and related dementias. genome-wide association analysis NONHSAT179793.1 lncRNA Lewy body dementia 0.33 GGAGGACGTG(T > C)GCGGCCGCCT chr19: 44908684 0.8494,0.1506 0.84440303261977573,0.15559696738022426 Region score:0.28; TSS score:0.39; Unmatched score:0.64; Average GERP:1.473687128712871 GeneName:AC011481.3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000280087; TranscriptID:ENST00000623895; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:APOE; CADD-Score:7; Consquence:missense; GeneID:ENSG00000130203; TranscriptID:ENST00000252486; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TOMM40; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000130204; TranscriptID:ENST00000252487; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001390 26198764 NONHSAT131044.2 rs7020830 T N/A 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls EFO_0000692 N/A Associate Schizophrenia rs7020830-T of NONHSAT131044.2 is significantly associated with the schizophrenia by using GWAS analysis in 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls(p-value = 8E-6 ;OR = 1.0526316). 0.4 Genome-wide association study of schizophrenia in Ashkenazi Jews. genome-wide association analysis NONHSAT131044.2 lncRNA Schizophrenia 0.33 AACCTGTTTG(A > T)TGTTTTTGGT chr9: 37085187 0.6585,0.3415 0.62705466360856269,0.37294533639143730 Region score:0.38; TSS score:0.32; Unmatched score:0.35; Average GERP:0.31334356435643607 GeneName:EBLN3P; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000281649; TranscriptID:ENST00000625445; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001391 27863252 NONHSAT176180.1 rs4795419 A N/A 170,494 european ancestry individuals EFO_0007989 N/A Associate Monocyte percentage of white cells rs4795419-A of NONHSAT176180.1 is significantly associated with the monocyte percentage of white cells by using GWAS analysis in 170,494 european ancestry individuals(p-value = 5E-81 ;OR = 0.0693653). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT176180.1 lncRNA Monocypte percentage of leukocytes 0.33 AGCACTTTGG(G > A)AGGCTGAGGT chr17: 40009750 0.6643,0.3357 0.63926318807339449,0.36073681192660550 Region score:0.25; TSS score:0.41; Unmatched score:0.19; Average GERP:-0.4063311827956991 GeneName:AC090844.3; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000265799; TranscriptID:ENST00000583462; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001392 21685187 NONHSAT166455.1 rs9506942 C N/A 1,907 european ancestry former smoker cases//1,164 european ancestry current smoker cases EFO_0004319 N/A Associate Smoking cessation in chronic obstructive pulmonary disease rs9506942-C of NONHSAT166455.1 is significantly associated with the smoking cessation in chronic obstructive pulmonary disease by using GWAS analysis in 1,907 european ancestry former smoker cases//1,164 european ancestry current smoker cases(p-value = 6E-6 ;OR = 1.29). 0.4 Genome-wide association study of smoking behaviours in patients with COPD. genome-wide association analysis NONHSAT166455.1 lncRNA Smoking cessation 0.33 GCGCGGCTCC(C > G)GGCTCCGGCT chr13: 22838450 0.6458,0.3542 0.64299821610601427,0.35700178389398572 Region score:0.36; TSS score:0.34; Unmatched score:0.67; Average GERP:0.0758100000000002 GeneName:IPMKP1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000226507; TranscriptID:ENST00000425988; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000475667; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001393 26198764 NONHSAT159668.1 rs2514218 C N/A 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls EFO_0000692 N/A Associate Schizophrenia rs2514218-C of NONHSAT159668.1 is significantly associated with the schizophrenia by using GWAS analysis in 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls(p-value = 2E-10 ;OR = 1.0752687). 0.4 Genome-wide association study of schizophrenia in Ashkenazi Jews. genome-wide association analysis NONHSAT159668.1 lncRNA Schizophrenia 0.52 AGAGTCCTTG(C > T)CATGTACAGT chr11: 113522272 0.8107,0.1893 0.73457409531090723,0.26542590468909276 Region score:0.31; TSS score:0.4; Unmatched score:0.2; Average GERP:-0.5091319801980199 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000442775; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001393 25056061 NONHSAT159668.1 rs2514218 C N/A 32,405 european ancestry cases//42,221 european ancestry controls//1,235 european ancestry cases and 1,235 european ancestry controls from 1235 parent-offspring trios//1,836 east asian ancestry cases//3,383 east asian ancestry controls; 1,513 european ancestry cases//66,236 european ancestry controls EFO_0000692 N/A Associate Schizophrenia rs2514218-C of NONHSAT159668.1 is significantly associated with the schizophrenia by using GWAS analysis in 32,405 european ancestry cases//42,221 european ancestry controls//1,235 european ancestry cases and 1,235 european ancestry controls from 1235 parent-offspring trios//1,836 east asian ancestry cases//3,383 east asian ancestry controls; 1,513 european ancestry cases//66,236 european ancestry controls(p-value = 3E-11 ;OR = 1.0787487). 0.4 Biological insights from 108 schizophrenia-associated genetic loci. genome-wide association analysis NONHSAT159668.1 lncRNA Schizophrenia 0.52 AGAGTCCTTG(C > T)CATGTACAGT chr11: 113522272 0.8107,0.1893 0.73457409531090723,0.26542590468909276 Region score:0.31; TSS score:0.4; Unmatched score:0.2; Average GERP:-0.5091319801980199 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000442775; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001393 28991256 NONHSAT159668.1 rs2514218 C N/A 7,699 chinese ancestry cases//35,476 european ancestry cases//18,327 chinese ancestry controls//46,839 european ancestry controls; 4,384 chinese ancestry cases//5,770 chinese ancestry controls EFO_0000692 N/A Associate Schizophrenia rs2514218-C of NONHSAT159668.1 is significantly associated with the schizophrenia by using GWAS analysis in 7,699 chinese ancestry cases//35,476 european ancestry cases//18,327 chinese ancestry controls//46,839 european ancestry controls; 4,384 chinese ancestry cases//5,770 chinese ancestry controls(p-value = 5E-11 ;OR = 1.0775862). 0.4 Genome-wide association analysis identifies 30 new susceptibility loci for schizophrenia. genome-wide association analysis NONHSAT159668.1 lncRNA Schizophrenia 0.52 AGAGTCCTTG(C > T)CATGTACAGT chr11: 113522272 0.8107,0.1893 0.73457409531090723,0.26542590468909276 Region score:0.31; TSS score:0.4; Unmatched score:0.2; Average GERP:-0.5091319801980199 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000442775; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001394 28181694 NONHSAT155410.1 rs149737732 C N/A 488 european ancestry female children//445 european ancestry male children; 245 european ancestry female children//241 european ancestry male children EFO_0007621 N/A Associate Pediatric bone mineral content (radius) rs149737732-C of NONHSAT155410.1 is significantly associated with the pediatric bone mineral content (radius) by using GWAS analysis in 488 european ancestry female children//445 european ancestry male children; 245 european ancestry female children//241 european ancestry male children(p-value = 7E-6 ;OR = 0.372879). 0.4 A Genomewide Association Study Identifies Two Sex-Specific Loci, at SPTB and IZUMO3, Influencing Pediatric Bone Mineral Density at Multiple Skeletal Sites. genome-wide association analysis NONHSAT155410.1 lncRNA Bone mineral content measurement 0.33 CAGGAATGCA(T > C)TCCTTTCCCA chr10: 42741770 0.9133,0.08666 0.92880351681957186,0.07119648318042813 Region score:0.34; TSS score:0.05; Unmatched score:0.01; Average GERP:0.07229591836734695 GeneName:RSU1P1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000230425; TranscriptID:ENST00000453416; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001395 21685187 NONHSAT166455.1 rs9552733 G N/A 1,907 european ancestry former smoker cases//1,164 european ancestry current smoker cases EFO_0004319 N/A Associate Smoking cessation in chronic obstructive pulmonary disease rs9552733-G of NONHSAT166455.1 is significantly associated with the smoking cessation in chronic obstructive pulmonary disease by using GWAS analysis in 1,907 european ancestry former smoker cases//1,164 european ancestry current smoker cases(p-value = 6E-6 ;OR = 1.29). 0.4 Genome-wide association study of smoking behaviours in patients with COPD. genome-wide association analysis NONHSAT166455.1 lncRNA Smoking cessation 0.33 TGTCACACAA(G > A,T)ATTAAAACAA chr13: 22838784 0.6472,0.3528,. 0.63142679663608562,0.36856523955147808,0.00000796381243628 Region score:0.44; TSS score:0.24; Unmatched score:0.47; Average GERP:-0.038399999999999955 GeneName:IPMKP1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000226507; TranscriptID:ENST00000425988; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000475667; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001396 25961943 NONHSAT215396.1 rs4841132 G N/A up to 62,166 european ancestry individuals EFO_0000319 N/A Associate Hdl cholesterol rs4841132-G of NONHSAT215396.1 is significantly associated with the hdl cholesterol by using GWAS analysis in up to 62,166 european ancestry individuals(p-value = 4E-20 ;OR = 0.094). 0.4 The impact of low-frequency and rare variants on lipid levels. genome-wide association analysis NONHSAT215396.1 lncRNA Cardiovascular disease 0.451 CCAGGGCAGC(A > G)TCCAGCTGGT chr8: 9326086 0.09325,0.9067 0.09840086646279306,0.90159913353720693 Region score:0.46; TSS score:0.24; Unmatched score:0.62; Average GERP:-1.1010772277227727 GeneName:AC022784.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000248538; TranscriptID:ENST00000520390; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0795; mirSVR-E:-25.94 | NCRV0000001396 28270201 NONHSAT215396.1 rs4841132 G N/A 19,223 british ancestry individuals from 6863 families. EFO_0000319 N/A Associate Hdl cholesterol rs4841132-G of NONHSAT215396.1 is significantly associated with the hdl cholesterol by using GWAS analysis in 19,223 british ancestry individuals from 6863 families.(p-value = 1E-8 ;OR = 0.10894712). 0.4 Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants. genome-wide association analysis NONHSAT215396.1 lncRNA Cardiovascular disease 0.451 CCAGGGCAGC(A > G)TCCAGCTGGT chr8: 9326086 0.09325,0.9067 0.09840086646279306,0.90159913353720693 Region score:0.46; TSS score:0.24; Unmatched score:0.62; Average GERP:-1.1010772277227727 GeneName:AC022784.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000248538; TranscriptID:ENST00000520390; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0795; mirSVR-E:-25.94 | NCRV0000001397 28199695 NONHSAT175237.1 rs28513436 T N/A 16,576 european ancestry individuals EFO_0008380 N/A Associate Perceived unattractiveness to mosquitoes rs28513436-T of NONHSAT175237.1 is significantly associated with the perceived unattractiveness to mosquitoes by using GWAS analysis in 16,576 european ancestry individuals(p-value = 4E-6 ;OR = 0.285084). 0.4 GWAS of self-reported mosquito bite size, itch intensity and attractiveness to mosquitoes implicates immune-related predisposition loci. genome-wide association analysis NONHSAT175237.1 lncRNA Perceived unattractiveness to mosquitos measurement 0.33 GACTAGCTTT(T > C)CATACTTGCT chr17: 43552281 0.9381,0.0619 0.92279880224260958,0.07720119775739041 Region score:0.44; TSS score:0.57; Unmatched score:0.48; Average GERP:0.27814950495049495 GeneName:DHX8; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000067596; TranscriptID:ENST00000588996; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ETV4; CADD-Score:2; Consquence:intron; GeneID:ENSG00000175832; TranscriptID:ENST00000586764; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000556287; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001398 22797727 NONHSAT173323.1 rs889472 C N/A 21,417 east asian ancestry individuals; 11,657 east asian ancestry individuals EFO_0003884 N/A Associate Renal function-related traits (urea) rs889472-C of NONHSAT173323.1 is significantly associated with the renal function-related traits (urea) by using GWAS analysis in 21,417 east asian ancestry individuals; 11,657 east asian ancestry individuals(p-value = 1E-9 ;OR = 0.0711). 0.4 Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations. genome-wide association analysis NONHSAT173323.1 lncRNA Chronic kidney disease 0.33 ACACACAACT(C > A,G)CTTTCCTTTA chr16: 79612092 0.5493,0.4507,. 0.49249808868501529,0.50748598369011213,0.00001592762487257 Region score:0.24; TSS score:0.38; Unmatched score:0.14; Average GERP:-0.6733495049504945 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001399 25130324 NONHSAT214343.1 rs6947964 T N/A 1,778 european ancestry individuals//1,276 individuals EFO_0005852 N/A Associate Heschl's gyrus morphology rs6947964-T of NONHSAT214343.1 is significantly associated with the heschl's gyrus morphology by using GWAS analysis in 1,778 european ancestry individuals//1,276 individuals(p-value = 6E-6 ;OR = 0.034). 0.4 A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus. genome-wide association analysis NONHSAT214343.1 lncRNA Heschl's gyrus morphology measurement 0.33 TCAGAAACGG(T > G)CTACTGCCAG chr7: 10727861 0.4968,0.5032 0.45431957186544342,0.54568042813455657 Region score:0.32; TSS score:0.42; Unmatched score:0.31; Average GERP:3.013702970297029 GeneName:MGC4859; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000283117; TranscriptID:ENST00000634803; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001400 28525603 NONHSAT154474.1 rs7513165 ? N/A 3,967 finnish ancestry individuals EFO_0005407 N/A Associate Psychosis proneness (hypomanic personality scale and perceptual aberration scale) rs7513165-? of NONHSAT154474.1 is significantly associated with the psychosis proneness (hypomanic personality scale and perceptual aberration scale) by using GWAS analysis in 3,967 finnish ancestry individuals(p-value = 2E-6 ;OR = ?). 0.4 Genome-Wide Association Study of Psychosis Proneness in the Finnish Population. genome-wide association analysis NONHSAT154474.1 lncRNA Psychosis 0.33 TGAGCATCTA(T > C)GATGTGCTAT chr1: 204178058 0.6266,0.3734 0.65304058358817533,0.34695941641182466 Region score:0.4; TSS score:0.42; Unmatched score:0.2; Average GERP:-1.1455891089108914 GeneName:AL592114.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000225522; TranscriptID:ENST00000440142; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:REN; CADD-Score:2; Consquence:intron; GeneID:ENSG00000143839; TranscriptID:ENST00000638118; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001401 21980299 NONHSAT160476.1 rs4084127 ? N/A 9,934 european ancestry cases//16,956 european ancestry controls; 1,120 european ancestry affected trios EFO_0001359 N/A Associate Type 1 diabetes rs4084127-? of NONHSAT160476.1 is significantly associated with the type 1 diabetes by using GWAS analysis in 9,934 european ancestry cases//16,956 european ancestry controls; 1,120 european ancestry affected trios(p-value = 3E-6 ;OR = 1.11). 0.4 A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci. genome-wide association analysis NONHSAT160476.1 lncRNA Type i diabetes mellitus 0.33 CATAACCCCA(G > A,C)TTGATTTGTT chr11: 69781755 0.7073,0.2927,. 0.68161474260958205,0.31830561926605504,0.00007963812436289 Region score:0.47; TSS score:0.58; Unmatched score:0.33; Average GERP:-1.2428307920792079 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001402 28762467 NONHSAT036473.2 rs143510029 ? N/A 36 european ancestry cases//5,170 european ancestry untreated controls HP_0012235 Sulfasalazine-induced Associate Sulfasalazine-induced agranulocytosis rs143510029-? of NONHSAT036473.2 is significantly associated with the sulfasalazine-induced agranulocytosis by using GWAS analysis in 36 european ancestry cases//5,170 european ancestry untreated controls(p-value = 5E-7 ;OR = 9.11). 0.4 Sulfasalazine-Induced Agranulocytosis Is Associated With the Human Leukocyte Antigen Locus. genome-wide association analysis NONHSAT036473.2 lncRNA Drug-induced agranulocytosis 0.33 AACAGCAGAA(C > T)GAGAAGTCCG chr14: 37865546 0.9948,0.005192 0.99342189092762487,0.00657810907237512 Region score:0.55; TSS score:0.56; Unmatched score:0.48; Average GERP:1.6479168316831685 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000495297; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TTC6; CADD-Score:2; Consquence:intron,NMD; GeneID:ENSG00000139865; TranscriptID:ENST00000533625; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001403 24324551 NONHSAT088639.2 rs409974 ? N/A 580 brazilian ancestry individuals EFO_0003777 Tripanosoma cruzi seropositivity Associate Qrs duration in tripanosoma cruzi seropositivity rs409974-? of NONHSAT088639.2 is significantly associated with the qrs duration in tripanosoma cruzi seropositivity by using GWAS analysis in 580 brazilian ancestry individuals(p-value = 9E-6 ;OR = ?). 0.4 Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects. genome-wide association analysis NONHSAT088639.2 lncRNA Heart disease 0.33 ACACCCCCAG(G > A)CCTGCCGACG chr3: 21405844 0.9269,0.07308 0.87775547910295616,0.12224452089704383 Region score:0.34; TSS score:0.24; Unmatched score:0.72; Average GERP:0.07048514851485158 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000679666; AnnoType:REGULATORY; mirSVR-Score:-0.0413; mirSVR-E:-27.10 | GeneName:VENTXP7; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000236380; TranscriptID:ENST00000475503; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0413; mirSVR-E:-27.10 | NCRV0000001404 27002721 miR-196a2 rs11614913 T N/a 95 ra patients diagnosed according to the american college of rheumatology and 200 healthy controls EFO_0000685 N/A No significance for risk Rheumatoid arthritis rs11614913-T of miR-196a2 and its dysfunction is not significantly associated with Rheumatoid arthritis by using case-control analysis in 95 RA patients diagnosed according to the American College of Rheumatology and 200 healthy controls. -0.4 Precursor miR-499a Variant but not miR-196a2 is Associated with Rheumatoid Arthritis Susceptibility in an Egyptian Population. case-control analysis hsa-mir-196a-2 miRNA Rheumatoid arthritis -0.33 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001405 21073609 miR-499 rs3746444 G N/a 552 gc, and 697 non-cancer subjects EFO_0000178 N/A No significance for risk Gastric cancer rs3746444-G of miR-499 and its dysfunction is not significantly associated with gastric cancer by using case-control analysis in 552 GC, and 697 non-cancer subjects. -0.4 Association between common genetic variants in pre-microRNAs and gastric cancer risk in Japanese population. case-control analysis hsa-mir-499a miRNA Gastric cancer -0.208 CCACGTGAAC(A > G)TCACAGCAAG chr20: 34990448 0.8165,0.1835 0.81708715596330275,0.18291284403669724 Region score:0.79; TSS score:0.85; Unmatched score:0.95; Average GERP:3.757564356435645 GeneName:MIR499A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207635; TranscriptID:ENST00000384903; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR499B; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283441; TranscriptID:ENST00000636498; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYH7B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000078814; TranscriptID:ENST00000262873; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001405 26597478 miR-499 rs3746444 C Dominant 363 gastric cancer patients and 969 cancer-free controls in Chinese population EFO_0000178 N/A increasing risk gastric carcinoma rs3746444-C of hsa-mir-499a and its dysfunction is significantly associated with the increasing risk of Gastric carcinoma by using case-control analysis in 363 gastric cancer patients and 969 cancer-free controls in Chinese population 0.4 Association between microRNA-499 polymorphism and gastric cancer risk in Chinese population. case-control analysis hsa-mir-499a miRNA Gastric carcinoma -0.208 CCACGTGAAC(A > G)TCACAGCAAG chr20: 34990448 0.8165,0.1835 0.81708715596330275,0.18291284403669724 Region score:0.79; TSS score:0.85; Unmatched score:0.95; Average GERP:3.757564356435645 GeneName:MIR499A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207635; TranscriptID:ENST00000384903; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR499B; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283441; TranscriptID:ENST00000636498; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYH7B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000078814; TranscriptID:ENST00000262873; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001405 26345764 miR-499 rs3746444 C N/A 8285 patients and 10,716 controls. EFO_0000178 N/A no significance for risk gastric carcinoma rs3746444-C of hsa-mir-499a and its dysfunction is not significantly associated with Gastric carcinoma by using meta-analysis in 8285 patients and 10,716 controls. -0.4 Association between five common polymorphisms in microRNA genes and the risk of gastric cancer: a meta-analysis. meta-analysis hsa-mir-499a miRNA Gastric carcinoma -0.208 CCACGTGAAC(A > G)TCACAGCAAG chr20: 34990448 0.8165,0.1835 0.81708715596330275,0.18291284403669724 Region score:0.79; TSS score:0.85; Unmatched score:0.95; Average GERP:3.757564356435645 GeneName:MIR499A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207635; TranscriptID:ENST00000384903; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR499B; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283441; TranscriptID:ENST00000636498; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYH7B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000078814; TranscriptID:ENST00000262873; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001405 24107911 mir-499 rs3746444 G N/A 201 gastric cancer and 213 non-cancer subjects EFO_0000178 N/A no significance for risk gastric carcinoma rs3746444-G of hsa-mir-499a and its dysfunction is not significantly associated with Gastric carcinoma by using case-control analysis in 201 gastric cancer and 213 non-cancer subjects -0.4 Association of the hsa-mir-499 (rs3746444) polymorphisms with gastric cancer risk in the Chinese population. case-control analysis hsa-mir-499a miRNA Gastric carcinoma -0.208 CCACGTGAAC(A > G)TCACAGCAAG chr20: 34990448 0.8165,0.1835 0.81708715596330275,0.18291284403669724 Region score:0.79; TSS score:0.85; Unmatched score:0.95; Average GERP:3.757564356435645 GeneName:MIR499A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207635; TranscriptID:ENST00000384903; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR499B; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283441; TranscriptID:ENST00000636498; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYH7B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000078814; TranscriptID:ENST00000262873; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001405 28922434 miR-499 rs3746444 G N/A 142 gastric cancer patients and 288 age and gender matched cancer-free controls EFO_0000178 N/A no significance for risk gastric carcinoma rs3746444-G of hsa-mir-499a and its dysfunction is not significantly associated with Gastric carcinoma by using case-control analysis in 142 gastric cancer patients and 288 age and gender matched cancer-free controls -0.4 Association of microRNA Polymorphisms with the Risk of Gastric Cancer in a Romanian Population. case-control analysis hsa-mir-499a miRNA Gastric carcinoma -0.208 CCACGTGAAC(A > G)TCACAGCAAG chr20: 34990448 0.8165,0.1835 0.81708715596330275,0.18291284403669724 Region score:0.79; TSS score:0.85; Unmatched score:0.95; Average GERP:3.757564356435645 GeneName:MIR499A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207635; TranscriptID:ENST00000384903; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR499B; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283441; TranscriptID:ENST00000636498; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYH7B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000078814; TranscriptID:ENST00000262873; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001405 25202115 miR-499 rs3746444 A Dominant 130 advanced gcs performing chemotherapy. EFO_0000178 N/A Better prognosis Advanced gastric cancers (gcs) treated by chemotherapy rs3746444-A of miR-499 and its dysfunction is significantly associated with the better prognosis of advanced gastric cancers (GCs) treated by chemotherapy by using case-control analysis in 130 advanced GCs performing chemotherapy 0.4 Association between common genetic variants in pre-microRNAs and prognosis of advanced gastric cancer treated with chemotherapy. case-control analysis hsa-mir-499a miRNA Gastric cancer -0.208 CCACGTGAAC(A > G)TCACAGCAAG chr20: 34990448 0.8165,0.1835 0.81708715596330275,0.18291284403669724 Region score:0.79; TSS score:0.85; Unmatched score:0.95; Average GERP:3.757564356435645 GeneName:MIR499A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207635; TranscriptID:ENST00000384903; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR499B; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283441; TranscriptID:ENST00000636498; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYH7B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000078814; TranscriptID:ENST00000262873; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001406 27863252 NONHSAT006319.2 rs4970966 T N/A 170,721 european ancestry individuals EFO_0005091 N/A Associate Monocyte count rs4970966-T of NONHSAT006319.2 is significantly associated with the monocyte count by using GWAS analysis in 170,721 european ancestry individuals(p-value = 5E-64 ;OR = 0.072678). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT006319.2 lncRNA Monocyte count 0.33 ACACGGGCTT(G > T)CATTTCTAAA chr1: 150611627 0.8299,0.1701 0.83659849643221202,0.16340150356778797 Region score:0.49; TSS score:0.54; Unmatched score:0.69; Average GERP:0.7767138613861383 GeneName:ENSA; CADD-Score:2; Consquence:intron; GeneID:ENSG00000143420; TranscriptID:ENST00000369016; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000372432; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF00015; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000276103; TranscriptID:ENST00000620626; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001407 26634245 NONHSAT176146.1 rs12185265 C N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio rs12185265-C of NONHSAT176146.1 is significantly associated with the post bronchodilator fev1/fvc ratio by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 3E-6 ;OR = 0.01). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT176146.1 lncRNA Pulmonary function measurement 0.33 TGCTCTTCCT(C > G)CCAGCAAAAA chr17: 36916999 0.5625,0.4375 0.59421190112130479,0.40578809887869520 Region score:0.39; TSS score:0.3; Unmatched score:0.1; Average GERP:-1.0508712871287131 GeneName:LHX1-DT; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000277268; TranscriptID:ENST00000616341; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001408 27863252 NONHSAT152639.1 rs10911457 C N/A 170,763 european ancestry individuals EFO_0007986 N/A Associate High light scatter reticulocyte count rs10911457-C of NONHSAT152639.1 is significantly associated with the high light scatter reticulocyte count by using GWAS analysis in 170,763 european ancestry individuals(p-value = 1E-10 ;OR = 0.02324864). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT152639.1 lncRNA Reticulocyte count 0.33 TAGAAGGCCT(T > C)AGCCATTTTT chr1: 183873970 0.4353,0.5647 0.44606906218144750,0.55393093781855249 Region score:0.37; TSS score:0.32; Unmatched score:0.27; Average GERP:-0.24194356435643574 GeneName:RGL1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000143344; TranscriptID:ENST00000304685; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001409 24413317 miR-423 rs6505162 C N/a 16399 cases and 21779 controls from seven published studies in eight common cancers EFO_0000292 N/A Increasing risk Bladder cancer rs6505162-C of miR-423 and its dysfunction is significantly associated with the increasing risk of bladder cancer by using meta-analysis in 16399 cases and 21779 controls from seven published studies in eight common cancers. 0.4 MicroRNA sequence polymorphisms and the risk of different types of cancer. meta-analysis hsa-mir-423 miRNA Bladder cancer 0.33 TTGCTTCCTA(A > C,T)CCCGCGCTTG chr17: 30117165 0.5022,0.4978,. 0.57055937818552497,0.42940876656472986,0.00003185524974515 Region score:0.43; TSS score:0.32; Unmatched score:0.93; Average GERP:3.269841584158416 GeneName:AC104984.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000265394; TranscriptID:ENST00000582938; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC104984.5; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000266919; TranscriptID:ENST00000586878; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3184; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284399; TranscriptID:ENST00000637796; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR423; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000283935; TranscriptID:ENST00000362201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000092957; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NSRP1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000126653; TranscriptID:ENST00000247026; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001410 26178671 let-7 rs111742 A N/a 503 metabolic syndrome patients and 529 normal controls in a chinese population EFO_0000195 N/A No significance for risk Metabolic syndrome rs111742-A of let-7 and its dysfunction is not significantly associated with metabolic syndrome by using case-control analysis in 503 metabolic syndrome patients and 529 normal controls in a Chinese population. -0.4 Let-7 related genetic variation and risk of metabolic syndrome in a Chinese population. case-control analysis hsa-let-7a-1 miRNA Metabolic syndrome -0.33 N/A N/A N/A N/A N/A N/A NCRV0000001411 21323541 NONHSAT108734.2 rs1265159 T N/A 556 european ancestry cases//2,338 european ancestry controls EFO_0004254 N/A Associate Idiopathic membranous nephropathy rs1265159-T of NONHSAT108734.2 is significantly associated with the idiopathic membranous nephropathy by using GWAS analysis in 556 european ancestry cases//2,338 european ancestry controls(p-value = 4E-37 ;OR = 2.42). 0.4 Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy. genome-wide association analysis NONHSAT108734.2 lncRNA Membranous glomerulonephritis 0.33 TCCTCTGGGG(G > A)ACTCAGGCGT chr6: 31172270 0.8431,0.1569 0.77962538226299694,0.22037461773700305 Region score:0.25; TSS score:0.35; Unmatched score:0.59; Average GERP:0.003736633663366343 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000787508; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:POU5F1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000204531; TranscriptID:ENST00000259915; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PSORS1C3; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000204528; TranscriptID:ENST00000412143; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001412 26152337 hsa-mir-629 rs78212770 G N/a 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs78212770-G of hsa-mir-629 and its dysfunction is not significantly associated with hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors. -0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. case-control analysis hsa-mir-629 miRNA Hepatocellular cancer -0.33 GTTCTCCCAA(C > A,G,T)GTAAACCCAG chr15: 70079438 0.9393,.,0.0607,. 0.97683326962283384,.,0.02315876656472986,0.00000796381243628 Region score:0.29; TSS score:0.26; Unmatched score:0.51; Average GERP:-1.3165746938775509 GeneName:MIR629; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207965; TranscriptID:ENST00000385230; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000520102; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TLE3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000140332; TranscriptID:ENST00000558939; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001413 27863252 NONHSAT054945.2 rs2632516 C N/A 170,721 european ancestry individuals EFO_0005091 N/A Associate Monocyte count rs2632516-C of NONHSAT054945.2 is significantly associated with the monocyte count by using GWAS analysis in 170,721 european ancestry individuals(p-value = 1E-25 ;OR = 0.03754437). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT054945.2 lncRNA Monocyte count 0.33 CACCCCAACC(G > C)TGAGGTCCTG chr17: 58331728 0.4718,0.5282 0.50414914627930682,0.49585085372069317 Region score:0.37; TSS score:0.42; Unmatched score:0.74; Average GERP:-0.5220009900990099 GeneName:AC004687.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000265206; TranscriptID:ENST00000579003; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR142; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284353; TranscriptID:ENST00000384835; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR4736; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000264399; TranscriptID:ENST00000581591; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000096246; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000559805; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TSPOAP1-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000265148; TranscriptID:ENST00000580515; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TSPOAP1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000005379; TranscriptID:ENST00000343736; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001414 29228715 NONHSAT219150.1 rs954980 ? N/A 978 austrian ancestry cases//855 austrian ancestry controls EFO_0005842 N/A Associate Colorectal cancer rs954980-? of NONHSAT219150.1 is significantly associated with the colorectal cancer by using GWAS analysis in 978 austrian ancestry cases//855 austrian ancestry controls(p-value = 5E-6 ;OR = 1.3933399). 0.4 Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas. genome-wide association analysis NONHSAT219150.1 lncRNA Colorectal cancer 0.33 TGTTTCTAAC(G > A)TAATTCTCGT chr9: 3761909 0.6577,0.3423 0.71997642711518858,0.28002357288481141 Region score:0.45; TSS score:0.23; Unmatched score:0.02; Average GERP:-0.8963049504950495 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001415 27182965 NONHSAT002478.2 rs3748682 ? N/A 17,558 european ancestry cases//117,083 european ancestry controls EFO_0004705 N/A Associate Hypothyroidism rs3748682-? of NONHSAT002478.2 is significantly associated with the hypothyroidism by using GWAS analysis in 17,558 european ancestry cases//117,083 european ancestry controls(p-value = 7E-6 ;OR = ?). 0.4 Detection and interpretation of shared genetic influences on 42 human traits. genome-wide association analysis NONHSAT002478.2 lncRNA Hypothyroidism 0.451 AAAACAGCGA(T > C)GTTCCCCAAG chr1: 37814315 0.8073,0.1927 0.77612130479102956,0.22387869520897043 Region score:0.6; TSS score:0.88; Unmatched score:0.82; Average GERP:1.1051346534653463 GeneName:C1orf122; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000197982; TranscriptID:ENST00000373042; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0011; mirSVR-E:-11.87 | GeneName:MTF1; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000188786; TranscriptID:ENST00000373036; AnnoType:3PRIME_UTR; mirSVR-Score:-0.0011; mirSVR-E:-11.87 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000004894; AnnoType:REGULATORY; mirSVR-Score:-0.0011; mirSVR-E:-11.87 | NCRV0000001415 22493691 NONHSAT002478.2 rs3748682 T N/A 3,736 european ancestry cases//35,546 european ancestry controls EFO_0004705 N/A Associate Hypothyroidism rs3748682-T of NONHSAT002478.2 is significantly associated with the hypothyroidism by using GWAS analysis in 3,736 european ancestry cases//35,546 european ancestry controls(p-value = 9E-6 ;OR = 1.19). 0.4 Novel associations for hypothyroidism include known autoimmune risk loci. genome-wide association analysis NONHSAT002478.2 lncRNA Hypothyroidism 0.451 AAAACAGCGA(T > C)GTTCCCCAAG chr1: 37814315 0.8073,0.1927 0.77612130479102956,0.22387869520897043 Region score:0.6; TSS score:0.88; Unmatched score:0.82; Average GERP:1.1051346534653463 GeneName:C1orf122; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000197982; TranscriptID:ENST00000373042; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0011; mirSVR-E:-11.87 | GeneName:MTF1; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000188786; TranscriptID:ENST00000373036; AnnoType:3PRIME_UTR; mirSVR-Score:-0.0011; mirSVR-E:-11.87 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000004894; AnnoType:REGULATORY; mirSVR-Score:-0.0011; mirSVR-E:-11.87 | NCRV0000001416 28928442 NONHSAT207108.1 rs1052248 A N/A 60,098 european ancestry cases//113,323 european ancestry controls EFO_0007924 N/A Associate Tonsillectomy rs1052248-A of NONHSAT207108.1 is significantly associated with the tonsillectomy by using GWAS analysis in 60,098 european ancestry cases//113,323 european ancestry controls(p-value = 3E-17 ;OR = 1.05). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. genome-wide association analysis NONHSAT207108.1 lncRNA Tonsillectomy risk measurement 0.33 TCCGTTCAAA(T > A)TGATCATCAT chr6: 31588804 0.6983,0.3017 0.74444125891946992,0.25555874108053007 Region score:0.44; TSS score:0.77; Unmatched score:0.89; Average GERP:-0.20322496999999998 GeneName:LST1; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000204482; TranscriptID:ENST00000376093; AnnoType:3PRIME_UTR; mirSVR-Score:-0.9496; mirSVR-E:-8.34 | GeneName:NCR3; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000204475; TranscriptID:ENST00000340027; AnnoType:DOWNSTREAM; mirSVR-Score:-0.9496; mirSVR-E:-8.34 | NCRV0000001417 27863252 NONHSAT103742.2 rs10058074 A N/A 166,066 european ancestry individuals EFO_0004309 N/A Associate Platelet count rs10058074-A of NONHSAT103742.2 is significantly associated with the platelet count by using GWAS analysis in 166,066 european ancestry individuals(p-value = 3E-18 ;OR = 0.03170327). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT103742.2 lncRNA Platelet count 0.33 ATAGGAAATT(G > A)AAGATAAATA chr5: 132350453 0.8425,0.1575 0.69118724515800203,0.30881275484199796 Region score:0.21; TSS score:0.15; Unmatched score:0.17; Average GERP:-0.4044730495049505 GeneName:MIR3936HG; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000233006; TranscriptID:ENST00000621103; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000769434; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001418 28754176 NONHSAT041529.2 rs3817591 ? N/A 390 mexican children//490 bangladeshi children EFO_0008237 N/A Associate Motor development (prenatal lead exposure interaction) rs3817591-? of NONHSAT041529.2 is significantly associated with the motor development (prenatal lead exposure interaction) by using GWAS analysis in 390 mexican children//490 bangladeshi children(p-value = 1E-6 ;OR = ?). 0.4 Genome-wide gene by lead exposure interaction analysis identifies UNC5D as a candidate gene for neurodevelopment. genome-wide association analysis NONHSAT041529.2 lncRNA Motor development measurement 0.33 ATTAAAATAC(C > T)CTTAGCATAT chr15: 32765574 0.5809,0.4191 0.55035518603465851,0.44964481396534148 Region score:0.39; TSS score:0.73; Unmatched score:0.61; Average GERP:3.0287415841584164 GeneName:FMN1; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000248905; TranscriptID:ENST00000616417; AnnoType:3PRIME_UTR; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001419 23251661 NONHSAT167261.1 rs641862 G N/A 815 hispanic children from 263 families EFO_0004626 N/A Associate Obesity-related traits rs641862-G of NONHSAT167261.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 7E-7 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. genome-wide association analysis NONHSAT167261.1 lncRNA Igfbp-3 measurement 0.33 GCGTCACAGA(T > C)AGCAAGCCGT chr13: 110137885 0.9778,0.02216 0.98373789500509683,0.01626210499490316 Region score:0.47; TSS score:0.38; Unmatched score:0.55; Average GERP:-0.8753544554455448 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000490731; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001420 26198764 NONHSAT202567.1 rs4629607 G N/A 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls EFO_0000692 N/A Associate Schizophrenia rs4629607-G of NONHSAT202567.1 is significantly associated with the schizophrenia by using GWAS analysis in 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls(p-value = 1E-6 ;OR = 1.0526316). 0.4 Genome-wide association study of schizophrenia in Ashkenazi Jews. genome-wide association analysis NONHSAT202567.1 lncRNA Schizophrenia 0.33 TTAGAATGGC(G > A,C,T)ATCATTAAAA chr5: 44857365 0.4163,.,.,0.5837 0.38000923802242609,0.00101936799184505,.,0.61897139398572884 Region score:0.2; TSS score:0.05; Unmatched score:0; Average GERP:0 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001421 23555923 hsa-mir-608 rs4919510 C N/a 191 patients with tnbc and 192 healthy female controls EFO_0005537 N/A No significance for risk Triple-negative breast cancer rs4919510-C of hsa-mir-608 and its dysfunction is not significantly associated with Triple-negative breast cancer by using case-control analysis in 191 patients with TNBC and 192 healthy female controls. -0.4 There is no association between microRNA gene polymorphisms and risk of triple negative breast cancer in a Chinese Han population. case-control analysis hsa-mir-608 miRNA Triple-negative breast cancer -0.33 TGGGACAGCT(C > G)CGTTTAAAAA chr10: 100975021 0.6362,0.3638 0.70305332568807339,0.29694667431192660 Region score:0.54; TSS score:0.1; Unmatched score:0.51; Average GERP:-0.18896138613861369 GeneName:MIR608; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207551; TranscriptID:ENST00000384820; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MRPL43; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000055950; TranscriptID:ENST00000318325; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SEMA4G; CADD-Score:2; Consquence:intron; GeneID:ENSG00000095539; TranscriptID:ENST00000210633; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001422 28418933 TINCR rs8105637 A Dominant 1400 CRC cases and 1400 healthy controls EFO_0005842 N/A increasing risk colorectal cancer rs8105637-A of TINCR and its dysfunction is significantly associated with the increasing risk of Colorectal cancer by using case-control analysis in 1400 CRC cases and 1400 healthy controls 0.4 Genetic variation of long non-coding RNA TINCR contribute to the susceptibility and progression of colorectal cancer. case-control analysis TINCR lncRNA Colorectal cancer 0.33 CAGAGACACC(A > G)GAGAGATAAA chr19: 5566221 0.3916,0.6084 0.43158288735983690,0.56841711264016309 Region score:0.31; TSS score:0.36; Unmatched score:0.39; Average GERP:-0.2661264356435645 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000583112; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TINCR; CADD-Score:2; Consquence:intron; GeneID:ENSG00000223573; TranscriptID:ENST00000448587; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001423 23548203 NONHSAT023550.2 rs1126809 G N/A 9,283 european ancestry individuals; 4,236 european ancestry individuals EFO_0003958 N/A Associate Sunburns rs1126809-G of NONHSAT023550.2 is significantly associated with the sunburns by using GWAS analysis in 9,283 european ancestry individuals; 4,236 european ancestry individuals(p-value = 2E-8 ;OR = 0.6). 0.4 Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans. genome-wide association analysis NONHSAT023550.2 lncRNA Sunburn 0.33 CAGTGGCTCC(G > A)AAGGCACCGT chr11: 89284793 0.9187,0.08127 0.82370508409785932,0.17629491590214067 Region score:0.27; TSS score:0.31; Unmatched score:0.54; Average GERP:2.4450792079207937 GeneName:TYR; CADD-Score:7; Consquence:missense; GeneID:ENSG00000077498; TranscriptID:ENST00000263321; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001424 28604730 NONHSAT047580.2 rs8040868 C N/A 7,426 european ancestry cases//55,627 european ancestry controls EFO_0000708 N/A Associate Squamous cell lung carcinoma rs8040868-C of NONHSAT047580.2 is significantly associated with the squamous cell lung carcinoma by using GWAS analysis in 7,426 european ancestry cases//55,627 european ancestry controls(p-value = 3E-41 ;OR = 1.2904406). 0.4 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. genome-wide association analysis NONHSAT047580.2 lncRNA Squamous cell lung cancer 0.33 ACACGTTGGC(T > C)ACAGGCCGGA chr15: 78618839 0.6715,0.3285 0.62953140927624872,0.37046859072375127 Region score:0.47; TSS score:0.65; Unmatched score:0.88; Average GERP:3.0833564356435654 GeneName:CHRNA3; CADD-Score:5; Consquence:synonymous; GeneID:ENSG00000080644; TranscriptID:ENST00000326828; AnnoType:SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000278483; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001425 26252872 NONHSAT152108.1 rs114685215 G N/A 370 european and other ancestry apoee4 non-carriers EFO_0000249 N/A Associate Cerebral amyloid deposition in apoee4 non-carriers (pet imaging) rs114685215-G of NONHSAT152108.1 is significantly associated with the cerebral amyloid deposition in apoee4 non-carriers (pet imaging) by using GWAS analysis in 370 european and other ancestry apoee4 non-carriers(p-value = 2E-7 ;OR = 0.3389). 0.4 Variations in the FRA10AC1 Fragile Site and 15q21 Are Associated with Cerebrospinal Fluid Abeta1-42 Level. genome-wide association analysis NONHSAT152108.1 lncRNA Alzheimers disease 0.33 GGGGGCACCA(G > C,T)AGTCCCAGCA chr1: 112526100 0.9964,0.003594,. 0.99502261722731906,0.00496941896024464,0.00000796381243628 Region score:0.43; TSS score:0.6; Unmatched score:0.81; Average GERP:0.43799247524752505 GeneName:ST7L; CADD-Score:5; Consquence:synonymous; GeneID:ENSG00000007341; TranscriptID:ENST00000358039; AnnoType:SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:WNT2B; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000134245; TranscriptID:ENST00000369684; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001426 28443625 NONHSAT167505.1 rs17065323 T N/A 95,362 european ancestry women//62,085 european ancestry men//5,829 european ancestry individuals//10,500 african american/afro-caribbean ancestry women//2,706 african american/afro-caribbean ancestry men//1,030 indian asian ancestry women//7,648 indian asian ancestry men//1,793 filipino ancestry women//2,944 hispanic/latino ancestry women//1,764 hispanic/latino ancestry men; 21,496 european ancestry women//24,385 european ancestry men//118,364 european ancestry individuals//2,326 african american/afro-caribbean ancestry women//855 african american/afro-caribbean ancestry men EFO_0007788 adjusted for smoking behaviour Associate Waist-to-hip ratio adjusted for bmi (adjusted for smoking behaviour) rs17065323-T of NONHSAT167505.1 is significantly associated with the waist-to-hip ratio adjusted for bmi (adjusted for smoking behaviour) by using GWAS analysis in 95,362 european ancestry women//62,085 european ancestry men//5,829 european ancestry individuals//10,500 african american/afro-caribbean ancestry women//2,706 african american/afro-caribbean ancestry men//1,030 indian asian ancestry women//7,648 indian asian ancestry men//1,793 filipino ancestry women//2,944 hispanic/latino ancestry women//1,764 hispanic/latino ancestry men; 21,496 european ancestry women//24,385 european ancestry men//118,364 european ancestry individuals//2,326 african american/afro-caribbean ancestry women//855 african american/afro-caribbean ancestry men(p-value = 1E-8 ;OR = 0.139). 0.4 Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits. genome-wide association analysis NONHSAT167505.1 lncRNA Bmi-adjusted waist-hip ratio 0.33 TCAGATAGCC(C > T)TCTAGACGTC chr13: 44053652 0.9257,0.07428 0.94578236493374108,0.05421763506625891 Region score:0.33; TSS score:0.37; Unmatched score:0.21; Average GERP:0.20129009900990094 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000480369; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001427 23555923 hsa-mir-492 rs2289030 G N/A 191 patients with TNBC and 192 healthy female controls EFO_0005537 N/A no significance for risk triple-negative breast cancer rs2289030-G of hsa-mir-492 and its dysfunction is not significantly associated with Triple-negative breast cancer by using case-control analysis in 191 patients with TNBC and 192 healthy female controls -0.4 There is no association between microRNA gene polymorphisms and risk of triple negative breast cancer in a Chinese Han population. case-control analysis hsa-mir-492 miRNA Triple-negative breast cancer -0.33 ACTGGCTGCA(G > C)ATGACTTCTG chr12: 94834510 0.8856,0.1144 0.93300840978593272,0.06699159021406727 Region score:0.46; TSS score:0.27; Unmatched score:0.47; Average GERP:0.04842574257425743 GeneName:KRT19P2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000216306; TranscriptID:ENST00000557173; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.5124; mirSVR-E:-22.60 | GeneName:MIR492; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000283998; TranscriptID:ENST00000638676; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.5124; mirSVR-E:-22.60 | NCRV0000001428 23906647 miR-96 rs6467264 ? N/A 695 adults with ADHD (266 and 396 subjects with and without comorbid SUD, respectively), 403 subjects with SUD without life-time diagnosis of ADHD and 485 sex-matched controls from Spain EFO_0003888 N/A no significance for risk attention deficit hyperactivity disorder rs6467264-? of hsa-mir-96 and its dysfunction is not significantly associated with Attention deficit hyperactivity disorder by using case-control analysis in 695 adults with ADHD (266 and 396 subjects with and without comorbid SUD, respectively), 403 subjects with SUD without life-time diagnosis of ADHD and 485 sex-matched controls from Spain -0.4 Evaluation of single nucleotide polymorphisms in the miR-183-96-182 cluster in adulthood attention-deficit and hyperactivity disorder (ADHD) and substance use disorders (SUDs). case-control analysis hsa-mir-96 miRNA Attention deficit hyperactivity disorder -0.33 GAAGGCGAAA(C > G,T)AATTTCTTCC chr7: 129767421 0.3373,.,0.6627 0.36785646024464831,0.05840660040774719,0.57373693934760448 Region score:0.22; TSS score:0.36; Unmatched score:0.3; Average GERP:-0.8490772277227717 GeneName:MIR182; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207990; TranscriptID:ENST00000385255; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001429 28604730 NONHSAT216414.1 rs2608029 G N/A 11,273 european ancestry cases// 55,483 european ancestry controls EFO_0000571 N/A Associate Lung adenocarcinoma rs2608029-G of NONHSAT216414.1 is significantly associated with the lung adenocarcinoma by using GWAS analysis in 11,273 european ancestry cases// 55,483 european ancestry controls(p-value = 1E-6 ;OR = 1.0843331). 0.4 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. genome-wide association analysis NONHSAT216414.1 lncRNA Lung adenocancer 0.33 ATTAGCAACA(C > G)ATACTCATTT chr8: 128157880 0.4906,0.5094 0.61432052752293577,0.38567947247706422 Region score:0.27; TSS score:0.24; Unmatched score:0.15; Average GERP:-1.0916613861386142 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001430 29930469 HOTTIP rs2067087 C N/a 521 hepatocellular cancer patients and frequency-matched 817 controls EFO_0000182 N/A Increasing risk Hepatocellular cancer rs2067087-C of HOTTIP and its dysfunction is significantly associated with the increasing risk of hepatocellular cancer by using case-control analysis in 521 hepatocellular cancer patients and frequency-matched 817 controls. 0.4 Association of twelve polymorphisms in three onco-lncRNA genes with hepatocellular cancer risk and prognosis: A case-control study. case-control analysis HOTTIP lncRNA Hepatocellular cancer 0.33 CAGTGACAAA(G > C,T)AGACAGAGTA chr7: 27202041 0.3247,0.6753,. 0.28659371814475025,0.71327886085626911,0.00012742099898063 Region score:0.31; TSS score:0.61; Unmatched score:0.85; Average GERP:2.6996247524752484 GeneName:HOTTIP; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000243766; TranscriptID:ENST00000521028; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0168; mirSVR-E:-13.21 | GeneName:HOXA13; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000106031; TranscriptID:ENST00000222753; AnnoType:UPSTREAM; mirSVR-Score:-0.0168; mirSVR-E:-13.21 | GeneName:RF02040; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000276609; TranscriptID:ENST00000620415; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0168; mirSVR-E:-13.21 | GeneName:RF02041; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000278708; TranscriptID:ENST00000616633; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0168; mirSVR-E:-13.21 | GeneName:RF02042; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277469; TranscriptID:ENST00000619957; AnnoType:UPSTREAM; mirSVR-Score:-0.0168; mirSVR-E:-13.21 | GeneName:RF02043; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277553; TranscriptID:ENST00000618195; AnnoType:UPSTREAM; mirSVR-Score:-0.0168; mirSVR-E:-13.21 | NCRV0000001431 27989323 NONHSAT036223.2 rs10131977 C N/A 3,475 finnish ancestry individuals EFO_0005140 N/A Associate Interleukin-2 levels rs10131977-C of NONHSAT036223.2 is significantly associated with the interleukin-2 levels by using GWAS analysis in 3,475 finnish ancestry individuals(p-value = 9E-6 ;OR = 0.1208). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. genome-wide association analysis NONHSAT036223.2 lncRNA Autoimmune disease 0.33 AACCTAGATA(T > C)GTTCTGAAGG chr14: 30370810 0.5473,0.4527 0.60142711518858307,0.39857288481141692 Region score:0.38; TSS score:0.22; Unmatched score:0.02; Average GERP:-0.7990514851485148 GeneName:AL079305.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000279032; TranscriptID:ENST00000623159; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001432 26242244 NONHSAT060068.2 rs11662586 ? N/A 128 han chinese ancestry cases EFO_0007700 N/A Associate Exploratory eye movement dysfunction in schizophrenia (responsive search score) rs11662586-? of NONHSAT060068.2 is significantly associated with the exploratory eye movement dysfunction in schizophrenia (responsive search score) by using GWAS analysis in 128 han chinese ancestry cases(p-value = 9E-6 ;OR = 3.632). 0.4 Association of chromosome 5q21.3 polymorphisms with the exploratory eye movement dysfunction in schizophrenia. genome-wide association analysis NONHSAT060068.2 lncRNA Exploratory eye movement measurement 0.33 TCCAAGAACA(A > C)CATCAAAGGA chr18: 79956171 0.8964,0.1036 0.83648700305810397,0.16351299694189602 Region score:0.2; TSS score:0.34; Unmatched score:0.2; Average GERP:0.11801980198019775 GeneName:PQLC1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000122490; TranscriptID:ENST00000397778; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001433 30219045 H19 rs2107425 T Dominant 556 female never smoking lung cancer patients and 395 cancer-free controls EFO_0001071 N/A Increasing risk Lung cancer rs2107425-T of H19 and its dysfunction is significantly associated with the increasing risk of lung cancer by using case-control analysis in 556 female never smoking lung cancer patients and 395 cancer-free controls. 0.4 Polymorphisms in the H19 gene and the risk of lung Cancer among female never smokers in Shenyang, China. case-control analysis H19 lncRNA Lung cancer 0.33 GTGCGGCTCC(C > T)ATGAGTGTCC chr11: 1999845 N/A 1 Region score:0.26; TSS score:0.41; Unmatched score:0.34; Average GERP:-1.0068415841584155 GeneName:H19; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000130600; TranscriptID:ENST00000414790; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR675; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284010; TranscriptID:ENST00000390168; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000262400; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000421501; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01972; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000275266; TranscriptID:ENST00000617997; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01973; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000274866; TranscriptID:ENST00000620857; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001434 26926045 NONHSAT156640.1 rs17143387 ? N/A 6,357 latin american individuals EFO_0007824 N/A Associate Scalp hair shape rs17143387-? of NONHSAT156640.1 is significantly associated with the scalp hair shape by using GWAS analysis in 6,357 latin american individuals(p-value = 4E-8 ;OR = ?). 0.4 A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features. genome-wide association analysis NONHSAT156640.1 lncRNA Hair shape measurement 0.33 TCACCAGAGA(T > G)TTGCTGCGTG chr10: 8272081 0.7418,0.2582 0.82279720948012232,0.17720279051987767 Region score:0.53; TSS score:0.53; Unmatched score:0.35; Average GERP:0.507832673267327 GeneName:LINC00708; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000232170; TranscriptID:ENST00000428165; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001435 26634245 NONHSAT064139.2 rs1353531 T N/A 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases EFO_0003892 N/A Associate Post bronchodilator fev1 in copd rs1353531-T of NONHSAT064139.2 is significantly associated with the post bronchodilator fev1 in copd by using GWAS analysis in 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases(p-value = 1E-6 ;OR = 0.151). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT064139.2 lncRNA Pulmonary function measurement 0.33 GCTCACCCCT(G > T)GTCGGGAGCG chr19: 31356001 0.7714,0.2286 0.83076898572884811,0.16923101427115188 Region score:0.42; TSS score:0.65; Unmatched score:0.4; Average GERP:-1.0865535643564357 GeneName:AC025809.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000267662; TranscriptID:ENST00000585336; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001436 27863252 NONHSAT144816.2 rs8068017 C N/A 170,143 european ancestry individuals EFO_0009390 N/A Associate Sum basophil neutrophil counts rs8068017-C of NONHSAT144816.2 is significantly associated with the sum basophil neutrophil counts by using GWAS analysis in 170,143 european ancestry individuals(p-value = 2E-9 ;OR = 0.02367607). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT144816.2 lncRNA Sum of neutrophil and eosinophil counts 0.33 CCACTACACC(T > A,C)GGCTAGTTTT chr17: 1417822 0.3413,.,0.6587 0.30352478338430173,0.00006371049949031,0.69641150611620795 Region score:0.24; TSS score:0.2; Unmatched score:0.05; Average GERP:-0.06180000000000001 GeneName:CRK; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000167193; TranscriptID:ENST00000300574; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001437 27863252 NONHSAT144330.2 rs68149176 T N/A 172,332 european ancestry individuals EFO_0004527 N/A Associate Mean corpuscular hemoglobin rs68149176-T of NONHSAT144330.2 is significantly associated with the mean corpuscular hemoglobin by using GWAS analysis in 172,332 european ancestry individuals(p-value = 8E-17 ;OR = 0.03479208). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT144330.2 lncRNA Mean corpuscular hemoglobin 0.33 ACTGACTCCA(C > G,T)GACACCCCTC chr16: 87852884 0.7153,.,0.2847 0.77823967889908256,0.00001592762487257,0.22174439347604485 Region score:0.29; TSS score:0.39; Unmatched score:0.57; Average GERP:-0.6938237623762374 GeneName:SLC7A5; CADD-Score:2; Consquence:intron; GeneID:ENSG00000103257; TranscriptID:ENST00000261622; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001438 23669352 NONHSAT178539.1 rs723486 T N/A up to 13,627 european ancestry individuals; up to 16,253 european ancestry individuals EFO_0001073 N/A Associate Body mass index rs723486-T of NONHSAT178539.1 is significantly associated with the body mass index by using GWAS analysis in up to 13,627 european ancestry individuals; up to 16,253 european ancestry individuals(p-value = 4E-17 ;OR = 0.081). 0.4 Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course. genome-wide association analysis NONHSAT178539.1 lncRNA Obesity 0.33 N/A N/A N/A N/A N/A N/A NCRV0000001439 16251535 miR-29b-2 chr1:207975576 A Dominant 75 patients with CLL and 160 control subjects EFO_0000095 N/A increasing risk chronic lymphocytic leukemia chr1:207975576-A of hsa-mir-29b-2 and its dysfunction is significantly associated with the increasing risk of Chronic lymphocytic leukemia by using case-control analysis in 75 patients with CLL and 160 control subjects 0.4 A MicroRNA signature associated with prognosis and progression in chronic lymphocytic leukemia. case-control analysis hsa-mir-29b-2 miRNA Chronic lymphocytic leukemia 0.33 GCATCACAAC(C > CA)TCTGCCCCTG chr1:207975576 - - - GeneName:C1orf132; CADD_Score:5; Consquence:noncoding_change; GeneID:ENSG00000203709; TranscriptID:ENST00000608023; AnnoType:NonCodingTranscript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001440 22190364 NONHSAT196970.1 rs170934 T N/A 5,545 european ancestry cases//12,153 european ancestry controls EFO_0003885 N/A Associate Multiple sclerosis rs170934-T of NONHSAT196970.1 is significantly associated with the multiple sclerosis by using GWAS analysis in 5,545 european ancestry cases//12,153 european ancestry controls(p-value = 2E-8 ;OR = 1.17). 0.4 Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci. genome-wide association analysis NONHSAT196970.1 lncRNA Multiple sclerosis 0.33 GACTCCTGAG(C > G,T)TTATGCTCTT chr3: 28037594 0.6326,.,0.3674 0.61636722731906218,0.00001592762487257,0.38361684505606523 Region score:0.25; TSS score:0.27; Unmatched score:0.03; Average GERP:-0.4220396039603963 GeneName:LINC01967; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000235493; TranscriptID:ENST00000356047; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001441 26545240 NONHSAT215969.1 rs73318770 G N/A 154 african american cases//948 african american controls//163 hispanic cases//305 hispanic controls EFO_0004710 N/A Associate Pelvic organ prolapse (moderate/severe) rs73318770-G of NONHSAT215969.1 is significantly associated with the pelvic organ prolapse (moderate/severe) by using GWAS analysis in 154 african american cases//948 african american controls//163 hispanic cases//305 hispanic controls(p-value = 8E-7 ;OR = 3.21). 0.4 Genetic Determinants of Pelvic Organ Prolapse among African American and Hispanic Women in the Women's Health Initiative. genome-wide association analysis NONHSAT215969.1 lncRNA Pelvic organ prolapse 0.33 GAAAACCTGT(A > G)TAATGCTGAT chr8: 73450680 0.9744,0.02556 0.97255670234454638,0.02744329765545361 Region score:0.4; TSS score:0.21; Unmatched score:0.13; Average GERP:-0.06701762376237627 GeneName:STAU2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000040341; TranscriptID:ENST00000524300; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001442 24509480 NONHSAT150555.1 rs2820446 C N/A 12,171 european ancestry cases//56,862 european ancestry controls//6,952 east asian ancestry cases//11,865 east asian ancestry controls//5,561 south asian ancestry cases//14,458 south asian ancestry controls//1,804 mexican ancestry cases//779 mexican ancestry controls; 21,491 european ancestry cases//55,647 european ancestry controls EFO_0001360 N/A Associate Type 2 diabetes rs2820446-C of NONHSAT150555.1 is significantly associated with the type 2 diabetes by using GWAS analysis in 12,171 european ancestry cases//56,862 european ancestry controls//6,952 east asian ancestry cases//11,865 east asian ancestry controls//5,561 south asian ancestry cases//14,458 south asian ancestry controls//1,804 mexican ancestry cases//779 mexican ancestry controls; 21,491 european ancestry cases//55,647 european ancestry controls(p-value = 2E-6 ;OR = 1.05). 0.4 Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. genome-wide association analysis NONHSAT150555.1 lncRNA Type ii diabetes mellitus 0.33 ATTTCTGCAA(C > G)TCTTTCAAAA chr1: 219575476 0.7774,0.2226 0.77207568807339449,0.22792431192660550 Region score:0.3; TSS score:0.38; Unmatched score:0.19; Average GERP:-0.5499801980198021 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000387132; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001443 27863252 NONHSAT173451.1 rs2968478 G N/A 173,039 european ancestry individuals EFO_0004348 N/A Associate Hematocrit rs2968478-G of NONHSAT173451.1 is significantly associated with the hematocrit by using GWAS analysis in 173,039 european ancestry individuals(p-value = 1E-13 ;OR = 0.02697652). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT173451.1 lncRNA Hematocrit 0.33 GGCCTGGTCA(T > G)AGCTGAAAGG chr16: 88792238 0.3784,0.6216 0.38257358562691131,0.61742641437308868 Region score:0.29; TSS score:0.37; Unmatched score:0.44; Average GERP:-0.2837801980198019 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001444 28604730 NONHSAT218812.1 rs10113175 G N/A 2,355 european ancestry cases// 7,504 european ancestry controls EFO_0001071 in ever smokers Associate Lung cancer in never smokers rs10113175-G of NONHSAT218812.1 is significantly associated with the lung cancer in never smokers by using GWAS analysis in 2,355 european ancestry cases// 7,504 european ancestry controls(p-value = 9E-6 ;OR = 1.5820769). 0.4 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. genome-wide association analysis NONHSAT218812.1 lncRNA Lung cancer 0.33 TGACTGTGAT(G > C)AAGACTATGG chr8: 127057790 0.8309,0.1691 0.88149847094801223,0.11850152905198776 Region score:0.26; TSS score:0.05; Unmatched score:0.02; Average GERP:-0.03473465346534646 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000869249; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PCAT1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000253438; TranscriptID:ENST00000644627; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001445 23251661 NONHSAT206072.1 rs17668565 G N/A 815 hispanic children from 263 families EFO_0005106 N/A Associate Obesity-related traits rs17668565-G of NONHSAT206072.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 2E-6 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. genome-wide association analysis NONHSAT206072.1 lncRNA Body composition measurement 0.33 TGACTAAGGC(T > A,C)TAAATTCCAA chr5: 92818872 0.6346,.,0.3654 0.55580243374108053,0.00001592762487257,0.44418163863404689 Region score:0.39; TSS score:0.34; Unmatched score:0.13; Average GERP:0.1944217821782178 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001446 28691018 miR-10b rs10188827 G N/a 1,064 breast cancer cases and 1,073 cancer-free controls EFO_0000305 N/A No significance for risk Breast cancer rs10188827-G of miR-10b and its dysfunction is not significantly associated with breast cancer by using case-control analysis in 1,064 breast cancer cases and 1,073 cancer-free controls. -0.4 Genetic Variants in the Promoter Region of miR-10b and the Risk of Breast Cancer. case-control analysis hsa-mir-10b miRNA Breast cancer -0.33 CCCTCAAAAC(G > A)TACAGTTTCT chr2: 176142936 0.1657,0.8343 0.18027682212028542,0.81972317787971457 Region score:0.36; TSS score:0.4; Unmatched score:0.25; Average GERP:-0.26569306930693093 GeneName:HOXD3; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000128652; TranscriptID:ENST00000459979; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001447 26343387 NONHSAT072012.2 rs10176176 T N/A 27,509 european ancestry cases//130 african american cases//278 hispanic american cases//10,257 south asian ancestry cases//288 lebanese ancestry cases//1,687 east asian ancestry cases//99,121 european ancestry controls//2,778 african american controls//3,337 hispanic american controls//12,899 south asian ancestry controls//466 lebanese ancestry controls//7,709 east asian ancestry controls EFO_0000612 N/A Associate Myocardial infarction rs10176176-T of NONHSAT072012.2 is significantly associated with the myocardial infarction by using GWAS analysis in 27,509 european ancestry cases//130 african american cases//278 hispanic american cases//10,257 south asian ancestry cases//288 lebanese ancestry cases//1,687 east asian ancestry cases//99,121 european ancestry controls//2,778 african american controls//3,337 hispanic american controls//12,899 south asian ancestry controls//466 lebanese ancestry controls//7,709 east asian ancestry controls(p-value = 3E-10 ;OR = 1.07). 0.4 A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease. genome-wide association analysis NONHSAT072012.2 lncRNA Myocardial infarction 0.33 GAAAAAGGAA(A > T)GGGAGGATAT chr2: 85534925 0.4804,0.5196 0.45673260703363914,0.54326739296636085 Region score:0.43; TSS score:0.33; Unmatched score:0.27; Average GERP:-0.11079702970297026 GeneName:MAT2A; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000168906; TranscriptID:ENST00000306434; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001448 28612367 RP11-392P7.6 rs10845671 ? N/a Discovery set (320 cases and 319 controls) and a validation set (501 cases and 538 controls). EFO_0005842 N/A Increasing risk Colorectal cancer rs10845671-? of RP11-392P7.6 and its dysfunction is significantly associated with the increasing risk of colorectal cancer by using case-control analysis in discovery set (320 cases and 319 controls) and a validation set (501 cases and 538 controls) 0.4 Association between genetic variants in the promoter region of a novel antisense long noncoding RNA RP11-392P7.6 and colorectal cancer risk. case-control analysis RP11-392P7.6 lncRNA Colorectal cancer 0.33 AGTATCCCGG(C > A,T)GATTCTTCTG chr12: 12926708 0.8201,0.1799,. 0.83058581804281345,0.16931065239551478,0.00010352956167176 Region score:0.48; TSS score:0.51; Unmatched score:0.77; Average GERP:-0.6707851485148514 GeneName:GPRC5D-AS1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000247498; TranscriptID:ENST00000543515; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001449 27989323 NONHSAT130792.2 rs117500816 T N/A 3,631 finnish ancestry individuals EFO_0005140 N/A Associate Ctack levels rs117500816-T of NONHSAT130792.2 is significantly associated with the ctack levels by using GWAS analysis in 3,631 finnish ancestry individuals(p-value = 1E-6 ;OR = 0.2205). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. genome-wide association analysis NONHSAT130792.2 lncRNA Autoimmune disease 0.33 GGTCTTTGAC(A > T)TAAACAATCA chr9: 33730119 0.9894,0.01058 0.98418386850152905,0.01581613149847094 Region score:0.22; TSS score:0.23; Unmatched score:0.2; Average GERP:-0.11665346534653467 GeneName:LINC01251; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000233776; TranscriptID:ENST00000444956; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001450 27989323 NONHSAT185684.1 rs145299843 C N/A 3,483 finnish ancestry individuals EFO_0005140 N/A Associate Interleukin-16 levels rs145299843-C of NONHSAT185684.1 is significantly associated with the interleukin-16 levels by using GWAS analysis in 3,483 finnish ancestry individuals(p-value = 3E-6 ;OR = 0.5472). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. genome-wide association analysis NONHSAT185684.1 lncRNA Autoimmune disease 0.33 CATTCAGTGA(T > C)AGAAAGAAAT chr2: 154177221 0.998,0.001997 0.99691800458715596,0.00308199541284403 Region score:0.35; TSS score:0.12; Unmatched score:0.05; Average GERP:-0.23900495049504955 GeneName:GALNT13; CADD-Score:2; Consquence:intron; GeneID:ENSG00000144278; TranscriptID:ENST00000409237; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001451 27863252 NONHSAT108210.2 rs1799945 G N/A 166,066 european ancestry individuals EFO_0004309 N/A Associate Platelet count rs1799945-G of NONHSAT108210.2 is significantly associated with the platelet count by using GWAS analysis in 166,066 european ancestry individuals(p-value = 5E-12 ;OR = 0.03507084). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT108210.2 lncRNA Platelet count 0.33 GTTCTATGAT(C > G)ATGAGAGTCG chr6: 26090951 0.9269,0.07308 0.89884365443425076,0.10115634556574923 Region score:0.3; TSS score:0.25; Unmatched score:0.49; Average GERP:0.6539455445544557 GeneName:HFE; CADD-Score:7; Consquence:missense; GeneID:ENSG00000010704; TranscriptID:ENST00000357618; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001452 28448500 NONHSAT186760.1 rs6752378 ? N/A 561 african american women//352 filipino ancestry women//725 indian ancestry women//19,366 european ancestry women//251 african american men//4,654 indian ancestry men//11,727 european ancestry men//959 european ancestry individuals; 1,437 african american women//5,184 european ancestry women//64 african american men//5,416 european ancestry men EFO_0001073 joint analysis main effects and physical activity interaction Associate Body mass index (joint analysis main effects and physical activity interaction) rs6752378-? of NONHSAT186760.1 is significantly associated with the body mass index (joint analysis main effects and physical activity interaction) by using GWAS analysis in 561 african american women//352 filipino ancestry women//725 indian ancestry women//19,366 european ancestry women//251 african american men//4,654 indian ancestry men//11,727 european ancestry men//959 european ancestry individuals; 1,437 african american women//5,184 european ancestry women//64 african american men//5,416 european ancestry men(p-value = 2E-14 ;OR = ?). 0.4 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. genome-wide association analysis NONHSAT186760.1 lncRNA Obesity 0.451 GAAAAGGCCC(C > A)GGATGGGAGG chr2: 24927247 0.4323,0.5677 0.42672496177370030,0.57327503822629969 Region score:0.32; TSS score:0.45; Unmatched score:0.41; Average GERP:-0.3981557425742573 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001452 28448500 NONHSAT186760.1 rs6752378 A N/A 561 african american women//352 filipino ancestry women//725 indian ancestry women//19,366 european ancestry women//251 african american men//4,654 indian ancestry men//11,727 european ancestry men//959 european ancestry individuals; 1,437 african american women//5,184 european ancestry women//64 african american men//5,416 european ancestry men EFO_0001073 joint analysis main effects and physical activity interaction Associate Body mass index rs6752378-A of NONHSAT186760.1 is significantly associated with the body mass index by using GWAS analysis in 561 african american women//352 filipino ancestry women//725 indian ancestry women//19,366 european ancestry women//251 african american men//4,654 indian ancestry men//11,727 european ancestry men//959 european ancestry individuals; 1,437 african american women//5,184 european ancestry women//64 african american men//5,416 european ancestry men(p-value = 7E-18 ;OR = 0.0331). 0.4 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. genome-wide association analysis NONHSAT186760.1 lncRNA Obesity 0.451 GAAAAGGCCC(C > A)GGATGGGAGG chr2: 24927247 0.4323,0.5677 0.42672496177370030,0.57327503822629969 Region score:0.32; TSS score:0.45; Unmatched score:0.41; Average GERP:-0.3981557425742573 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001453 25575512 NONHSAT208336.1 rs926657 ? N/A 1,376 old order amish individuals EFO_0000319 N/A Associate Lipoprotein (a) - cholesterol levels rs926657-? of NONHSAT208336.1 is significantly associated with the lipoprotein (a) - cholesterol levels by using GWAS analysis in 1,376 old order amish individuals(p-value = 5E-9 ;OR = ?). 0.4 Evidence for several independent genetic variants affecting lipoprotein (a) cholesterol levels. genome-wide association analysis NONHSAT208336.1 lncRNA Cardiovascular disease 0.451 TCTAGAAAAA(C > G,T)CAACCGATAA chr6: 159042420 0.8482,.,0.1518 0.82601458970438328,0.00003185524974515,0.17395355504587155 Region score:0.53; TSS score:0.5; Unmatched score:0.6; Average GERP:0.815920792079208 GeneName:AL035530.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000226032; TranscriptID:ENST00000645980; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AL035530.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000271913; TranscriptID:ENST00000646912; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000206185; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000323942; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TAGAP; CADD-Score:2; Consquence:intron; GeneID:ENSG00000164691; TranscriptID:ENST00000367066; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001453 26377243 NONHSAT208336.1 rs926657 T N/A 2,895 african american individuals EFO_0000319 N/A Associate Lipoprotein (a) levels rs926657-T of NONHSAT208336.1 is significantly associated with the lipoprotein (a) levels by using GWAS analysis in 2,895 african american individuals(p-value = 5E-11 ;OR = 0.14). 0.4 Genome- and exome-wide association study of serum lipoprotein (a) in the Jackson Heart Study. genome-wide association analysis NONHSAT208336.1 lncRNA Cardiovascular disease 0.451 TCTAGAAAAA(C > G,T)CAACCGATAA chr6: 159042420 0.8482,.,0.1518 0.82601458970438328,0.00003185524974515,0.17395355504587155 Region score:0.53; TSS score:0.5; Unmatched score:0.6; Average GERP:0.815920792079208 GeneName:AL035530.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000226032; TranscriptID:ENST00000645980; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AL035530.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000271913; TranscriptID:ENST00000646912; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000206185; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000323942; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TAGAP; CADD-Score:2; Consquence:intron; GeneID:ENSG00000164691; TranscriptID:ENST00000367066; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001454 27863252 NONHSAT119344.2 rs2537594 A N/A 172,332 european ancestry individuals EFO_0004527 N/A Associate Mean corpuscular hemoglobin rs2537594-A of NONHSAT119344.2 is significantly associated with the mean corpuscular hemoglobin by using GWAS analysis in 172,332 european ancestry individuals(p-value = 3E-10 ;OR = 0.02248585). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT119344.2 lncRNA Mean corpuscular hemoglobin 0.33 CCCAAAAGAA(G > A)TAAGTAACTC chr7: 17774912 0.3307,0.6693 0.40673579255861365,0.59326420744138634 Region score:0.32; TSS score:0.25; Unmatched score:0.14; Average GERP:-0.3267257425742574 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001455 28165464 NONHSAT180671.1 rs7254272 A N/A 4,478 european ancestry cases and 13,213 european ancestry controls.; 1,722 european ancestry cases and 4,385 european ancestry controls. EFO_0000095 N/A Associate Chronic lymphocytic leukemia rs7254272-A of NONHSAT180671.1 is significantly associated with the chronic lymphocytic leukemia by using GWAS analysis in 4,478 european ancestry cases and 13,213 european ancestry controls.; 1,722 european ancestry cases and 4,385 european ancestry controls.(p-value = 5E-8 ;OR = 1.17). 0.4 Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia. genome-wide association analysis NONHSAT180671.1 lncRNA Chronic lymphocytic leukemia 0.33 TGAGATGACA(G > A)GAATGAACCA chr19: 4069121 0.7384,0.2616 0.68851140417940876,0.31148859582059123 Region score:0.22; TSS score:0.34; Unmatched score:0.33; Average GERP:-0.019533663366336673 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000582630; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ZBTB7A; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000178951; TranscriptID:ENST00000322357; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001456 26192919 NONHSAT206588.1 rs7773324 A N/A 12,882 european ancestry cases//21,770 european ancestry controls; 25,273 european ancestry cases//26,715 european ancestry controls//548 iranian ancestry cases//342 iranian ancestry control//1,423 indian ancestry cases//990 indian ancestry controls//2,824 east asian ancestry cases//3,719 east asian ancestry controls EFO_0003767 N/A Associate Inflammatory bowel disease rs7773324-A of NONHSAT206588.1 is significantly associated with the inflammatory bowel disease by using GWAS analysis in 12,882 european ancestry cases//21,770 european ancestry controls; 25,273 european ancestry cases//26,715 european ancestry controls//548 iranian ancestry cases//342 iranian ancestry control//1,423 indian ancestry cases//990 indian ancestry controls//2,824 east asian ancestry cases//3,719 east asian ancestry controls(p-value = 6E-9 ;OR = 1.0637687). 0.4 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. genome-wide association analysis NONHSAT206588.1 lncRNA Inflammatory bowel disease 0.33 TCCCTGTTTC(G > A,C)CTCATTGGAC chr6: 382559 0.6522,0.3478,. 0.53144113149847094,0.45512391692150866,0.01343495158002038 Region score:0.36; TSS score:0.44; Unmatched score:0.25; Average GERP:-0.968444554455446 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001457 22956598 NONHSAT203866.1 rs13361160 C N/A 1,308 european ancestry female cases//5,791 european ancestry female controls; 1,480 european ancestry female cases//7,989 european ancestry female controls EFO_0003843 N/A Associate Pain rs13361160-C of NONHSAT203866.1 is significantly associated with the pain by using GWAS analysis in 1,308 european ancestry female cases//5,791 european ancestry female controls; 1,480 european ancestry female cases//7,989 european ancestry female controls(p-value = 5E-7 ;OR = 1.17). 0.4 Genome-wide association study meta-analysis of chronic widespread pain: evidence for involvement of the 5p15.2 region. genome-wide association analysis NONHSAT203866.1 lncRNA Pain 0.33 AGAGGGGCCA(T > C)GTCAGCACCA chr5: 10169711 0.7244,0.2756 0.66522521661569826,0.33477478338430173 Region score:0.39; TSS score:0.33; Unmatched score:0.08; Average GERP:-0.8561089108910892 GeneName:AC034229.5; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000280368; TranscriptID:ENST00000624258; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC034229.6; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000280449; TranscriptID:ENST00000623704; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001458 22778062 SNORA80 rs74960746 G N/A N/A function N/A not significant changes in the structure function rs74960746-G of SNORA80 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in nan -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORA80 snoRNA function -0.049 TCCAAACCCA(T > A,C)GCATAAGCAC chr21: 32377320 0.9982,.,0.001797 0.99929122069317023,0.00000796381243628,0.00070081549439347 Region score:0.46; TSS score:0.15; Unmatched score:0.38; Average GERP:0.2873247524752478 GeneName:SNORA80A; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000200792; TranscriptID:ENST00000363922; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:URB1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000142207; TranscriptID:ENST00000382751; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001459 27863252 NONHSAT060713.2 rs778798 C N/A 171,846 european ancestry individuals EFO_0005090 N/A Associate White blood cell count (basophil) rs778798-C of NONHSAT060713.2 is significantly associated with the white blood cell count (basophil) by using GWAS analysis in 171,846 european ancestry individuals(p-value = 2E-12 ;OR = 0.02817483). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT060713.2 lncRNA Basophil count 0.33 GGTGGCCTCA(A > C)CAAGCCCCTC chr19: 5839602 0.1671,0.8329 0.17967157237512742,0.82032842762487257 Region score:0.55; TSS score:0.74; Unmatched score:0.94; Average GERP:-0.48882079207920853 GeneName:FUT3; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000171124; TranscriptID:ENST00000303225; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:FUT6; CADD-Score:3; Consquence:5_prime_UTR; GeneID:ENSG00000156413; TranscriptID:ENST00000318336; AnnoType:5PRIME_UTR; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000583179; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001460 19838193 NONHSAT141784.2 rs7186852 A N/A 1,047 han chinese ancestry cases//1,205 han chinese ancestry controls; 3,152 han chinese ancestry cases//7,050 han chinese ancestry controls EFO_0002690 N/A Associate Systemic lupus erythematosus rs7186852-A of NONHSAT141784.2 is significantly associated with the systemic lupus erythematosus by using GWAS analysis in 1,047 han chinese ancestry cases//1,205 han chinese ancestry controls; 3,152 han chinese ancestry cases//7,050 han chinese ancestry controls(p-value = 3E-7 ;OR = 1.29). 0.4 Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus. genome-wide association analysis NONHSAT141784.2 lncRNA Systemic lupus erythematosus 0.33 CAACAGTGAG(A > G)TGGAGGCAAA chr16: 30624338 0.5046,0.4954 0.54798993374108053,0.45201006625891946 Region score:0.58; TSS score:0.58; Unmatched score:0.65; Average GERP:-0.1743487128712872 GeneName:AC093249.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000260113; TranscriptID:ENST00000567049; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC093249.5; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000261680; TranscriptID:ENST00000568120; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000535646; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ZNF689; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000156853; TranscriptID:ENST00000566673; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001461 21849855 miR-101 hsa-mir-101-1 Deletion - Dominant 1,236 lung cancer specimens and 20 lung carcinoma in situ samples EFO_0003060 N/A Increasing risk Non-small cell lung cancer Deletion of miR-101 and its dysfunction is significantly associated with the increasing risk of non-small cell lung cancer by using analysis of sequence variation in 1,236 lung cancer specimens and 20 lung carcinoma in situ samples. By using the disease cell lines or tissues, the mutation of miR-101 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 miR-101 DNA copy loss is a prominent subtype specific event in lung cancer. analysis of sequence variation; Function hsa-mir-101-1 miRNA Non-small cell lung cancer 0.593 N/A N/A N/A N/A N/A N/A NCRV0000001462 20436469 NONHSAT218889.1 rs987525 A N/A 825 european ancestry trios//1,038 asian ancestry trios; 2,194 asian ancestry family members//322 south asian ancestry family members//3,830 european ancestry family members//1,769 south and central american ancestry family members EFO_0003959 N/A Associate Cleft lip rs987525-A of NONHSAT218889.1 is significantly associated with the cleft lip by using GWAS analysis in 825 european ancestry trios//1,038 asian ancestry trios; 2,194 asian ancestry family members//322 south asian ancestry family members//3,830 european ancestry family members//1,769 south and central american ancestry family members(p-value = 4E-16 ;OR = 1.78). 0.4 A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4. genome-wide association analysis NONHSAT218889.1 lncRNA Cleft lip 0.33 ATTTTAGTCT(C > A)AAAGTGTGAC chr8: 128933908 0.7121,0.2879 0.68380479102956167,0.31619520897043832 Region score:0.33; TSS score:0.16; Unmatched score:0.02; Average GERP:-0.47641584158415845 GeneName:CCDC26; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000229140; TranscriptID:ENST00000643616; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001463 26198764 NONHSAT069543.2 rs76832595 A N/A 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls EFO_0000692 N/A Associate Schizophrenia rs76832595-A of NONHSAT069543.2 is significantly associated with the schizophrenia by using GWAS analysis in 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls(p-value = 2E-6 ;OR = 1.08). 0.4 Genome-wide association study of schizophrenia in Ashkenazi Jews. genome-wide association analysis NONHSAT069543.2 lncRNA Schizophrenia 0.33 CTTTGTTTAA(A > C)GAGAGGCGGA chr2: 23503849 0.7859,0.2141 0.84410837155963302,0.15589162844036697 Region score:0.28; TSS score:0.33; Unmatched score:0.26; Average GERP:-1.358666336633663 GeneName:AC011239.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000224361; TranscriptID:ENST00000430988; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:KLHL29; CADD-Score:2; Consquence:intron; GeneID:ENSG00000119771; TranscriptID:ENST00000486442; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000599555; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000599556; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001464 28199695 NONHSAT162383.1 rs3741647 T N/A 16,576 european ancestry individuals EFO_0008380 N/A Associate Perceived unattractiveness to mosquitoes rs3741647-T of NONHSAT162383.1 is significantly associated with the perceived unattractiveness to mosquitoes by using GWAS analysis in 16,576 european ancestry individuals(p-value = 3E-6 ;OR = 0.109497). 0.4 GWAS of self-reported mosquito bite size, itch intensity and attractiveness to mosquitoes implicates immune-related predisposition loci. genome-wide association analysis NONHSAT162383.1 lncRNA Perceived unattractiveness to mosquitos measurement 0.33 CAGAGACAAC(T > A)TTTATAAGCT chr12: 68028249 0.6504,0.3496 0.62142424821610601,0.37857575178389398 Region score:0.38; TSS score:0.27; Unmatched score:0.08; Average GERP:-0.3365792079207923 GeneName:IFNG-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000255733; TranscriptID:ENST00000536914; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001465 25493955 NONHSAT140921.2 rs12917707 T N/A up to 45,530 european ancestry individuals; up to 18,028 european ancestry individuals EFO_0006829 N/A Associate Kidney function decline traits rs12917707-T of NONHSAT140921.2 is significantly associated with the kidney function decline traits by using GWAS analysis in up to 45,530 european ancestry individuals; up to 18,028 european ancestry individuals(p-value = 2E-17 ;OR = 0.14). 0.4 Genome-wide association study of kidney function decline in individuals of European descent. genome-wide association analysis NONHSAT140921.2 lncRNA Gfr change measurement 0.33 CGAGGCAGGT(G > T)AGCCTTACAC chr16: 20356368 0.9018,0.09824 0.87375764525993883,0.12624235474006116 Region score:0.43; TSS score:0.46; Unmatched score:0.51; Average GERP:0.4125980198019801 GeneName:PDILT; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000169340; TranscriptID:ENST00000302451; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:UMOD; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000169344; TranscriptID:ENST00000396134; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001466 26098869 NONHSAT055686.2 rs11655237 T N/A 7,638 cases//7,364 controls; 2,287 cases//4,205 controls EFO_0002618 N/A Associate Pancreatic cancer rs11655237-T of NONHSAT055686.2 is significantly associated with the pancreatic cancer by using GWAS analysis in 7,638 cases//7,364 controls; 2,287 cases//4,205 controls(p-value = 1E-14 ;OR = 1.26). 0.4 Common variation at 2p13.3, 3q29, 7p13 and 17q25.1 associated with susceptibility to pancreatic cancer. genome-wide association analysis NONHSAT055686.2 lncRNA Pancreatic cancer 0.33 ACTCTGTATC(C > T)GGCTGGAAGA chr17: 72404025 0.7656,0.2344 0.83446419469928644,0.16553580530071355 Region score:0.57; TSS score:0.62; Unmatched score:0.62; Average GERP:1.1302118811881186 GeneName:LINC00511; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000227036; TranscriptID:ENST00000457958; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000097935; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001467 23251661 NONHSAT215466.1 rs13271465 A N/A 815 hispanic children from 263 families EFO_0005119 N/A Associate Obesity-related traits rs13271465-A of NONHSAT215466.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 8E-6 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. genome-wide association analysis NONHSAT215466.1 lncRNA Antioxidant measurement 0.33 GAACCACCTA(T > C)GTTTGCATTT chr8: 17424902 0.3652,0.6348 0.29846776248725790,0.70153223751274209 Region score:0.51; TSS score:0.34; Unmatched score:0.16; Average GERP:0.19531732673267319 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001468 24823311 NONHSAT091384.2 rs16829840 T N/A 8,631 european ancestry individuals EFO_0000319 N/A Associate Plasma omega-6 polyunsaturated fatty acid levels (arachidonic acid) rs16829840-T of NONHSAT091384.2 is significantly associated with the plasma omega-6 polyunsaturated fatty acid levels (arachidonic acid) by using GWAS analysis in 8,631 european ancestry individuals(p-value = 3E-8 ;OR = 0.46). 0.4 Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium. genome-wide association analysis NONHSAT091384.2 lncRNA Cardiovascular disease 0.33 TGAACTCGAA(C > T)ATCACTATCT chr3: 119429111 0.8668,0.1332 0.87093049184505606,0.12906950815494393 Region score:0.44; TSS score:0.3; Unmatched score:0.2; Average GERP:0.0863919801980199 GeneName:TMEM39A; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000176142; TranscriptID:ENST00000319172; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001469 24816252 NONHSAT183488.1 rs715 T N/A 7,824 european ancestry individuals EFO_0005664 N/A Associate Blood metabolite levels rs715-T of NONHSAT183488.1 is significantly associated with the blood metabolite levels by using GWAS analysis in 7,824 european ancestry individuals(p-value = 1E-24 ;OR = 0.045). 0.4 An atlas of genetic influences on human blood metabolites. genome-wide association analysis NONHSAT183488.1 lncRNA Blood metabolite measurement 0.33 TTCTGAACTC(T > C)TTCTATACTT chr2: 210678331 0.7638,0.2362 0.72770928899082568,0.27229071100917431 Region score:0.52; TSS score:0.86; Unmatched score:0.84; Average GERP:0.6805089108910892 GeneName:CPS1; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000021826; TranscriptID:ENST00000430249; AnnoType:3PRIME_UTR; mirSVR-Score:-1.1081; mirSVR-E:-13.72 | NCRV0000001470 22659075 miRNA-146a rs2910164 G N/A 107 patients with moyamoya disease and 240 healthy controls Orphanet_2573 N/A no significance for risk Moyamoya disease rs2910164-G of hsa-mir-146a and its dysfunction is not significantly associated with Moyamoya disease by using case-control analysis in 107 patients with moyamoya disease and 240 healthy controls -0.4 Association of the miR-146aC>G, miR-196a2C>T, and miR-499A>G polymorphisms with moyamoya disease in the Korean population. case-control analysis hsa-mir-146a miRNA Moyamoya disease -0.33 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 0 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001471 27718165 MIR146A rs2910164 G N/a 267 crohn隆炉s disease patients and 298 matched healthy controls EFO_0000384 N/A No significance for risk Crohn隆炉s disease rs2910164-G of MIR146A and its dysfunction is not significantly associated with Crohn隆炉s disease by using case-control analysis in 267 Crohn隆炉s disease patients and 298 matched healthy controls. -0.4 Polymorphisms in MIR122, MIR196A2, and MIR124A Genes are Associated with Clinical Phenotypes in Inflammatory Bowel Diseases. case-control analysis hsa-mir-146a miRNA Crohn's disease -0.33 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 N/A 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001472 27863252 NONHSAT208980.1 rs1055348 G N/A 170,494 european ancestry individuals EFO_0007989 N/A Associate Monocyte percentage of white cells rs1055348-G of NONHSAT208980.1 is significantly associated with the monocyte percentage of white cells by using GWAS analysis in 170,494 european ancestry individuals(p-value = 3E-22 ;OR = 0.05609307). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT208980.1 lncRNA Monocypte percentage of leukocytes 0.33 CCTCACATTA(T > C,G)GCTAACAGGG chr6: 31354171 0.8095,.,0.1905 0.83565876656472986,0.00001592762487257,0.16432530581039755 Region score:0.32; TSS score:0.48; Unmatched score:0.72; Average GERP:-0.53099900990099 GeneName:AL671883.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000271581; TranscriptID:ENST00000603274; AnnoType:UPSTREAM; mirSVR-Score:-0.2121; mirSVR-E:-19.10 | GeneName:HLA-B; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000234745; TranscriptID:ENST00000412585; AnnoType:3PRIME_UTR; mirSVR-Score:-0.2121; mirSVR-E:-19.10 | GeneName:MIR6891; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000277402; TranscriptID:ENST00000618788; AnnoType:DOWNSTREAM; mirSVR-Score:-0.2121; mirSVR-E:-19.10 | NCRV0000001473 23648065 NONHSAT210951.1 rs9386485 T N/A 371 japanese ancestry cases//825 japanese ancestry controls DOID_615 all antimetabolite drugs Associate Adverse response to chemotherapy (neutropenia/leucopenia) rs9386485-T of NONHSAT210951.1 is significantly associated with the adverse response to chemotherapy (neutropenia/leucopenia) by using GWAS analysis in 371 japanese ancestry cases//825 japanese ancestry controls(p-value = 3E-6 ;OR = 1.524). 0.4 Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan. genome-wide association analysis NONHSAT210951.1 lncRNA Leukopenia 0.33 AAGTATTTGC(C > T)GTATTAATTA chr6: 105881180 0.5116,0.4884 0.49750732670744138,0.50249267329255861 Region score:0.26; TSS score:0.22; Unmatched score:0.08; Average GERP:-0.39689504950495047 GeneName:AL591518.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000284999; TranscriptID:ENST00000642235; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001474 28510306 miR-1262 rs12740674 T Dominant 7,763 subjects (discovery stage: 2,331 cases and 3,077 controls; validation stage: 1,065 cases and 1,290 controls). EFO_0001071 N/A increasing risk lung carcinoma rs12740674-T of hsa-mir-1262 and its dysfunction is significantly associated with the increasing risk of Lung carcinoma by using case-control analysis in 7,763 subjects (discovery stage: 2,331 cases and 3,077 controls; validation stage: 1,065 cases and 1,290 controls). 0.9 A polymorphism in miR-1262 regulatory region confers the risk of lung cancer in Chinese population. case-control analysis hsa-mir-1262 miRNA Lung carcinoma 0.593 CTCAGGGTCA(C > T)GCAGCAGAGA chr1: 68121775 0.7566,0.2434 0.66684983435270132,0.33315016564729867 Region score:0.27; TSS score:0.24; Unmatched score:0.21; Average GERP:-1.081052475247525 GeneName:GNG12-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000232284; TranscriptID:ENST00000420587; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000361181; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:WLS; CADD-Score:2; Consquence:intron; GeneID:ENSG00000116729; TranscriptID:ENST00000354777; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001475 22778062 SNORD116-13 rs17115176 G N/A N/A function N/A not significant changes in the structure function rs17115176-G of SNORD116-13 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in nan -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD116-13 snoRNA function -0.049 GCATGGACCA(A > G)TGATGACTTC chr15: 25079064 0.9547,0.04533 0.95481332823649337,0.04518667176350662 Region score:0.4; TSS score:0.06; Unmatched score:0.27; Average GERP:0.11644455445544544 GeneName:SNHG14; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000224078; TranscriptID:ENST00000640631; AnnoType:INTRONIC; mirSVR-Score:-0.7706; mirSVR-E:-7.40 | GeneName:SNORD116-10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000200661; TranscriptID:ENST00000363791; AnnoType:DOWNSTREAM; mirSVR-Score:-0.7706; mirSVR-E:-7.40 | GeneName:SNORD116-11; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000206609; TranscriptID:ENST00000383882; AnnoType:DOWNSTREAM; mirSVR-Score:-0.7706; mirSVR-E:-7.40 | GeneName:SNORD116-12; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207197; TranscriptID:ENST00000384468; AnnoType:DOWNSTREAM; mirSVR-Score:-0.7706; mirSVR-E:-7.40 | GeneName:SNORD116-13; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207137; TranscriptID:ENST00000384408; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.7706; mirSVR-E:-7.40 | GeneName:SNORD116-14; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000206621; TranscriptID:ENST00000383894; AnnoType:UPSTREAM; mirSVR-Score:-0.7706; mirSVR-E:-7.40 | GeneName:SNORD116-15; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207174; TranscriptID:ENST00000384445; AnnoType:UPSTREAM; mirSVR-Score:-0.7706; mirSVR-E:-7.40 | GeneName:SNORD116-16; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207263; TranscriptID:ENST00000384533; AnnoType:UPSTREAM; mirSVR-Score:-0.7706; mirSVR-E:-7.40 | GeneName:SNORD116-17; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000206656; TranscriptID:ENST00000383929; AnnoType:UPSTREAM; mirSVR-Score:-0.7706; mirSVR-E:-7.40 | NCRV0000001476 22778062 SNORD110 rs73611742 G N/A N/A function N/A not significant changes in the structure function rs73611742-G of SNORD110 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in nan -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD110 snoRNA function -0.049 TGATGTCTCC(A > C,G)TGTCTCTGAG chr20: 2654273 0.9968,.,0.003195 0.99882931957186544,.,0.00117068042813455 Region score:0.33; TSS score:0.25; Unmatched score:0.73; Average GERP:1.3967277227722765 GeneName:IDH3B; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000101365; TranscriptID:ENST00000474315; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0571; mirSVR-E:-10.80 | GeneName:MIR1292; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000284481; TranscriptID:ENST00000408135; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0571; mirSVR-E:-10.80 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000133685; AnnoType:REGULATORY; mirSVR-Score:-0.0571; mirSVR-E:-10.80 | GeneName:NOP56; CADD-Score:2; Consquence:intron; GeneID:ENSG00000101361; TranscriptID:ENST00000329276; AnnoType:INTRONIC; mirSVR-Score:-0.0571; mirSVR-E:-10.80 | GeneName:SNORA51; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000271798; TranscriptID:ENST00000606420; AnnoType:UPSTREAM; mirSVR-Score:-0.0571; mirSVR-E:-10.80 | GeneName:SNORD110; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000221116; TranscriptID:ENST00000408189; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0571; mirSVR-E:-10.80 | GeneName:SNORD56; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000229686; TranscriptID:ENST00000413522; AnnoType:UPSTREAM; mirSVR-Score:-0.0571; mirSVR-E:-10.80 | GeneName:SNORD57; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000226572; TranscriptID:ENST00000448188; AnnoType:UPSTREAM; mirSVR-Score:-0.0571; mirSVR-E:-10.80 | GeneName:SNORD86; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000212498; TranscriptID:ENST00000391196; AnnoType:UPSTREAM; mirSVR-Score:-0.0571; mirSVR-E:-10.80 | NCRV0000001477 26634245 NONHSAT129674.2 rs7002002 A N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs7002002-A of NONHSAT129674.2 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 5E-6 ;OR = 0.044). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT129674.2 lncRNA Pulmonary function measurement 0.33 CTGCTGCACC(G > A)CGAAGGCGTG chr8: 143923759 0.7694,0.2306 0.71584320846075433,0.28415679153924566 Region score:0.21; TSS score:0.29; Unmatched score:0.44; Average GERP:2.6546930693069313 GeneName:PLEC; CADD-Score:7; Consquence:missense; GeneID:ENSG00000178209; TranscriptID:ENST00000322810; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001478 24743625 miR-608 rs4919510 C N/a Sepsis of 1268 trauma patients (1 screening cohort, n = 666) and 2 independent validated cohorts (n = 286 and n = 316, respectively) in china. HP_0100806 N/A Increasing risk Sepsis with major blunt trauma rs4919510-C of miR-608 and its dysfunction is significantly associated with the increasing risk of sepsis with major blunt trauma by using meta-analysis in sepsis of 1268 trauma patients (1 screening cohort, n = 666) and 2 independent validated cohorts (n = 286 and n = 316, respectively) in China By using the disease cell lines or tissues, the mutation of miR-608 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 Genetic variants of microRNA sequences and susceptibility to sepsis in patients with major blunt trauma. meta-analysis; Function hsa-mir-608 miRNA Sepsis 0.593 TGGGACAGCT(C > G)CGTTTAAAAA chr10: 100975021 0.6362,0.3638 0.70305332568807339,0.29694667431192660 Region score:0.54; TSS score:0.1; Unmatched score:0.51; Average GERP:-0.18896138613861369 GeneName:MIR608; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207551; TranscriptID:ENST00000384820; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MRPL43; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000055950; TranscriptID:ENST00000318325; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SEMA4G; CADD-Score:2; Consquence:intron; GeneID:ENSG00000095539; TranscriptID:ENST00000210633; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001479 28394258 NONHSAT160058.1 rs10839968 C N/A 30,201 european ancestry individuals EFO_0003777 N/A Associate Left ventricle systolic dysfunction rs10839968-C of NONHSAT160058.1 is significantly associated with the left ventricle systolic dysfunction by using GWAS analysis in 30,201 european ancestry individuals(p-value = 7E-6 ;OR = 0.3109). 0.4 Large-scale genome-wide analysis identifies genetic variants associated with cardiac structure and function. genome-wide association analysis NONHSAT160058.1 lncRNA Heart disease 0.33 TCTAGGGGGA(G > C,T)GACAGCATGA chr11: 8035840 0.131,0.869,. 0.14251242354740061,0.85415870285423037,0.00332887359836901 Region score:0.43; TSS score:0.29; Unmatched score:0.58; Average GERP:0.5910019801980199 GeneName:AC116456.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000254921; TranscriptID:ENST00000526646; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000422736; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TUB; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000166402; TranscriptID:ENST00000305253; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001480 28095793 NONHSAT177262.1 rs4889855 G N/A 768 hispanic children from 260 families; EFO_0004761 N/A Associate Fractional excretion of uric acid rs4889855-G of NONHSAT177262.1 is significantly associated with the fractional excretion of uric acid by using GWAS analysis in 768 hispanic children from 260 families; (p-value = 3E-7 ;OR = 0.29). 0.4 Genetic variation underlying renal uric acid excretion in Hispanic children: the Viva La Familia Study. genome-wide association analysis NONHSAT177262.1 lncRNA Uric acid measurement 0.33 AACACATTCA(G > A)TGCCCTTGAT chr17: 80539480 0.2105,0.7895 0.15759588430173292,0.84240411569826707 Region score:0.51; TSS score:0.52; Unmatched score:0.76; Average GERP:1.6626247524752482 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000566173; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RPL32P31; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000213128; TranscriptID:ENST00000471666; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001481 19247474 NONHSAT029847.2 rs1847461 ? N/A 2,617 european ancestry smokers//1,725 european ancestry controls EFO_0004318 N/A Associate Smoking behavior rs1847461-? of NONHSAT029847.2 is significantly associated with the smoking behavior by using GWAS analysis in 2,617 european ancestry smokers//1,725 european ancestry controls(p-value = 8E-6 ;OR = 1.8). 0.4 Genome-wide and candidate gene association study of cigarette smoking behaviors. genome-wide association analysis NONHSAT029847.2 lncRNA Smoking behavior 0.33 AGCTGTTGGG(G > A)GAGAACATAC chr12: 90683731 0.8598,0.1402 0.90812945973496432,0.09187054026503567 Region score:0.48; TSS score:0.33; Unmatched score:0.13; Average GERP:-0.9183138613861384 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001482 22778062 SNORD114-6 rs12435883 C N/A N/A function N/A not significant changes in the structure function rs12435883-C of SNORD114-6 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in nan -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD114-6 snoRNA function -0.049 CAAGCCTGGA(T > C)CAATGATGTC chr14: 100957170 0 RS=12435883;RSPOS=100957170;dbSNPBuildID=120;SSR=0;SAO=0;VP=0x050000080005000002000100;GENEINFO=SNORD114-6:767582|MEG8:79104;WGT=1;VC=SNV;INT;ASP Region score:0.38; TSS score:0.14; Unmatched score:0.53; Average GERP:-1.4530173267326734 GeneName:MEG8; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000225746; TranscriptID:ENST00000638012; AnnoType:INTRONIC; mirSVR-Score:-0.3198; mirSVR-E:-9.63 | GeneName:RF00181; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000200150; TranscriptID:ENST00000363280; AnnoType:DOWNSTREAM; mirSVR-Score:-0.3198; mirSVR-E:-9.63 | GeneName:SNORD114-3; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000201839; TranscriptID:ENST00000364969; AnnoType:DOWNSTREAM; mirSVR-Score:-0.3198; mirSVR-E:-9.63 | GeneName:SNORD114-4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000200832; TranscriptID:ENST00000363962; AnnoType:DOWNSTREAM; mirSVR-Score:-0.3198; mirSVR-E:-9.63 | GeneName:SNORD114-5; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000199798; TranscriptID:ENST00000362928; AnnoType:DOWNSTREAM; mirSVR-Score:-0.3198; mirSVR-E:-9.63 | GeneName:SNORD114-6; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000201263; TranscriptID:ENST00000364393; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.3198; mirSVR-E:-9.63 | NCRV0000001483 28181414 miR-196a2 rs11614913 T N/A 124 patients with comorbid AR and asthma (AR-A) and 206 healthy Chinese children as controls EFO_0000270 N/A no significance for risk asthma rs11614913-T of hsa-mir-196a-2 and its dysfunction is not significantly associated with Asthma by using case-control analysis in 124 patients with comorbid AR and asthma (AR-A) and 206 healthy Chinese children as controls -0.4 A functional variant of miRNA-149 confers risk for allergic rhinitis and comorbid asthma in Chinese children. case-control analysis hsa-mir-196a-2 miRNA Asthma 0 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001483 27487239 miR-196a2 rs11614913 C Recessive 96 patients with bronchial asthma (6-18 years of age) and 96 unrelated controls, EFO_0000270 N/A increased risk and poor prognosis asthma rs11614913-C of hsa-mir-196a-2 and its dysfunction is significantly associated with the increasing risk and poor prognosis of Asthma by using Pedigree analysis in 96 patients with bronchial asthma (6-18 years of age) and 96 unrelated controls, 0.4 A passenger strand variant in miR-196a2 contributes to asthma severity in children and adolescents: A preliminary study. Pedigree analysis hsa-mir-196a-2 miRNA Asthma 0 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001484 27863252 NONHSAT078136.2 rs156356 C N/A 164,433 european ancestry individuals EFO_0007984 N/A Associate Platelet distribution width rs156356-C of NONHSAT078136.2 is significantly associated with the platelet distribution width by using GWAS analysis in 164,433 european ancestry individuals(p-value = 1E-12 ;OR = 0.02674022). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT078136.2 lncRNA Platelet distribution width 0.33 CCCCAGCAGC(T > C)CCCAGGCAGC chr20: 1838634 0.2802,0.7198 0.36854134811416921,0.63145865188583078 Region score:0.29; TSS score:0.41; Unmatched score:0.21; Average GERP:-0.8306792079207924 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001485 27989323 NONHSAT175156.1 rs143653036 G N/A 8,243 finnish ancestry individuals EFO_0005140 N/A Associate Macrophage inflammatory protein 1b levels rs143653036-G of NONHSAT175156.1 is significantly associated with the macrophage inflammatory protein 1b levels by using GWAS analysis in 8,243 finnish ancestry individuals(p-value = 1E-25 ;OR = 0.6966). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. genome-wide association analysis NONHSAT175156.1 lncRNA Autoimmune disease 0.33 GAAACTACTC(G > A,C)GGGAGGCTGT chr17: 36782901 0.9978,0.002196,. 0.99742768858307849,0.00257231141692150,. Region score:0.3; TSS score:0.19; Unmatched score:0.09; Average GERP:-0.2373436633663366 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001486 22778062 SNORD114-31 rs76137386 C N/A N/A function N/A not significant changes in the structure function rs76137386-C of SNORD114-31 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in nan -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD114-31 snoRNA function -0.049 - - - - - - NCRV0000001487 27046643 NONHSAT192435.1 rs2142694 ? N/A 36,035 european ancestry individuals EFO_0004350 N/A Associate Verbal-numerical reasoning rs2142694-? of NONHSAT192435.1 is significantly associated with the verbal-numerical reasoning by using GWAS analysis in 36,035 european ancestry individuals(p-value = 7E-12 ;OR = 0.05119). 0.4 Genome-wide association study of cognitive functions and educational attainment in UK Biobank (N=112 151). genome-wide association analysis NONHSAT192435.1 lncRNA Reasoning 0.33 GTTTGTTTAC(A > G,T)CAATCAGTGT chr22: 42146869 0.5982,0.4018,. 0.41845852446483180,0.58154147553516819,. Region score:0.25; TSS score:0.21; Unmatched score:0.14; Average GERP:0 GeneName:CYP2D7; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000205702; TranscriptID:ENST00000612115; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CYP2D8P; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000226450; TranscriptID:ENST00000433633; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001488 23144326 NONHSAT161116.1 rs7929679 G N/A up to 1,951 european ancestry smokers EFO_0000341 N/A Associate Chronic obstructive pulmonary disease-related biomarkers rs7929679-G of NONHSAT161116.1 is significantly associated with the chronic obstructive pulmonary disease-related biomarkers by using GWAS analysis in up to 1,951 european ancestry smokers(p-value = 7E-9 ;OR = ?). 0.4 Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease. genome-wide association analysis NONHSAT161116.1 lncRNA Chronic obstructive pulmonary disease 0.33 TCTCCTCTGC(A > G)GAAAGTAAGG chr11: 34784302 0.5,0.5 0.47120285423037716,0.52879714576962283 Region score:0.44; TSS score:0.52; Unmatched score:0.34; Average GERP:-0.15830198019801983 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000427864; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001489 28621612 ANRIL rs4977574 ? N/A 125 prostate cancer patients and 220 normal age-matched subjects EFO_0001663 N/A increasing risk prostate carcinoma rs4977574-? of ANRIL and its dysfunction is significantly associated with the increasing risk of Prostate carcinoma by using case-control analysis in 125 prostate cancer patients and 220 normal age-matched subjects 0.4 Association of ANRIL gene polymorphisms with prostate cancer and benign prostatic hyperplasia in an Iranian population. case-control analysis ANRIL lncRNA Prostate carcinoma 0.33 ATTCTATAGC(A > G,T)CAGGATGTTC chr9: 22098575 0.605,0.395,. 0.60243851936799184,0.39756148063200815,. Region score:0.35; TSS score:0.52; Unmatched score:0.33; Average GERP:-0.7959801980198015 GeneName:CDKN2B-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000240498; TranscriptID:ENST00000428597; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000877595; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001490 22778062 SNORD115-13 rs7172888 G N/A N/A function N/A not significant changes in the structure function rs7172888-G of SNORD115-13 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in nan -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD115-13 snoRNA function -0.049 ACCTTATATT(A > G)TCCTGAAGAG chr15: 25193346 0.6298,0.3702 0.68520642201834862,0.31479357798165137 Region score:0.48; TSS score:0.18; Unmatched score:0.65; Average GERP:0.21706336633663378 GeneName:SNHG14; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000224078; TranscriptID:ENST00000414175; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.8169; mirSVR-E:-17.10 | GeneName:SNORD115-11; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000200486; TranscriptID:ENST00000363616; AnnoType:DOWNSTREAM; mirSVR-Score:-0.8169; mirSVR-E:-17.10 | GeneName:SNORD115-12; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000199453; TranscriptID:ENST00000362583; AnnoType:DOWNSTREAM; mirSVR-Score:-0.8169; mirSVR-E:-17.10 | GeneName:SNORD115-13; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000273835; TranscriptID:ENST00000363358; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.8169; mirSVR-E:-17.10 | GeneName:SNORD115-14; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000199960; TranscriptID:ENST00000363090; AnnoType:UPSTREAM; mirSVR-Score:-0.8169; mirSVR-E:-17.10 | GeneName:SNORD115-15; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000201679; TranscriptID:ENST00000364809; AnnoType:UPSTREAM; mirSVR-Score:-0.8169; mirSVR-E:-17.10 | NCRV0000001491 24390342 NONHSAT002470.2 rs28411352 T N/A up to 14,361 european ancestry cases//up to 42,923 european ancestry controls//up to 4,873 east asian ancestry cases//up to 17,642 east asian ancestry controls; up to 3,775 european ancestry cases//up to 5,801 european ancestry controls//up to 6,871 east asian ancestry cases//up to 6,392 east asian ancestry controls EFO_0000685 N/A Associate Rheumatoid arthritis rs28411352-T of NONHSAT002470.2 is significantly associated with the rheumatoid arthritis by using GWAS analysis in up to 14,361 european ancestry cases//up to 42,923 european ancestry controls//up to 4,873 east asian ancestry cases//up to 17,642 east asian ancestry controls; up to 3,775 european ancestry cases//up to 5,801 european ancestry controls//up to 6,871 east asian ancestry cases//up to 6,392 east asian ancestry controls(p-value = 3E-12 ;OR = 1.11). 0.4 Genetics of rheumatoid arthritis contributes to biology and drug discovery. genome-wide association analysis NONHSAT002470.2 lncRNA Rheumatoid arthritis 0.33 AACCTCCTGC(C > T)TTATCAACTT chr1: 37812907 0.7833,0.2167 0.77381976299694189,0.22618023700305810 Region score:0.45; TSS score:0.51; Unmatched score:0.35; Average GERP:1.0920186435643562 GeneName:C1orf122; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000197982; TranscriptID:ENST00000373042; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0236; mirSVR-E:-21.40 | GeneName:MTF1; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000188786; TranscriptID:ENST00000373036; AnnoType:3PRIME_UTR; mirSVR-Score:-0.0236; mirSVR-E:-21.40 | GeneName:YRDC; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000196449; TranscriptID:ENST00000373044; AnnoType:UPSTREAM; mirSVR-Score:-0.0236; mirSVR-E:-21.40 | NCRV0000001492 23770605 NONHSAT159793.1 rs735665 A N/A 2,179 european ancestry cases//6,221 european ancestry controls; 1,709 european ancestry cases//6,318 european ancestry controls EFO_0000095 N/A Associate Chronic lymphocytic leukemia rs735665-A of NONHSAT159793.1 is significantly associated with the chronic lymphocytic leukemia by using GWAS analysis in 2,179 european ancestry cases//6,221 european ancestry controls; 1,709 european ancestry cases//6,318 european ancestry controls(p-value = 4E-39 ;OR = 1.62). 0.4 Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia. genome-wide association analysis NONHSAT159793.1 lncRNA Chronic lymphocytic leukemia 0.565 GTGAGAGAAG(G > A)GAGGTGTTCA chr11: 123490689 0.9006,0.09944 0.86138984454638124,0.13861015545361875 Region score:0.32; TSS score:0.32; Unmatched score:0.16; Average GERP:-0.529860396039604 GeneName:GRAMD1B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000023171; TranscriptID:ENST00000635736; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000445257; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001492 24292274 NONHSAT159793.1 rs735665 A N/A 1,739 european ancestry cases//5,199 european ancestry controls; 1,144 european ancestry cases//3,151 european ancestry controls EFO_0000095 N/A Associate Chronic lymphocytic leukemia rs735665-A of NONHSAT159793.1 is significantly associated with the chronic lymphocytic leukemia by using GWAS analysis in 1,739 european ancestry cases//5,199 european ancestry controls; 1,144 european ancestry cases//3,151 european ancestry controls(p-value = 4E-24 ;OR = 1.64). 0.4 A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia. genome-wide association analysis NONHSAT159793.1 lncRNA Chronic lymphocytic leukemia 0.565 GTGAGAGAAG(G > A)GAGGTGTTCA chr11: 123490689 0.9006,0.09944 0.86138984454638124,0.13861015545361875 Region score:0.32; TSS score:0.32; Unmatched score:0.16; Average GERP:-0.529860396039604 GeneName:GRAMD1B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000023171; TranscriptID:ENST00000635736; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000445257; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001492 22700719 NONHSAT159793.1 rs735665 A N/A 1,121 european ancestry cases//3,745 european ancestry controls; 861 european ancestry cases//2,033 european ancestry controls EFO_0000095 N/A Associate Chronic lymphocytic leukemia rs735665-A of NONHSAT159793.1 is significantly associated with the chronic lymphocytic leukemia by using GWAS analysis in 1,121 european ancestry cases//3,745 european ancestry controls; 861 european ancestry cases//2,033 european ancestry controls(p-value = 3E-12 ;OR = 1.52). 0.4 Common variation at 6p21.31 (BAK1) influences the risk of chronic lymphocytic leukemia. genome-wide association analysis NONHSAT159793.1 lncRNA Chronic lymphocytic leukemia 0.565 GTGAGAGAAG(G > A)GAGGTGTTCA chr11: 123490689 0.9006,0.09944 0.86138984454638124,0.13861015545361875 Region score:0.32; TSS score:0.32; Unmatched score:0.16; Average GERP:-0.529860396039604 GeneName:GRAMD1B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000023171; TranscriptID:ENST00000635736; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000445257; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001492 18758461 NONHSAT159793.1 rs735665 A N/A 505 european ancestry cases//1,438 european ancestry controls; 1,024 european ancestry cases//1,677 european ancestry controls EFO_0000095 N/A Associate Chronic lymphocytic leukemia rs735665-A of NONHSAT159793.1 is significantly associated with the chronic lymphocytic leukemia by using GWAS analysis in 505 european ancestry cases//1,438 european ancestry controls; 1,024 european ancestry cases//1,677 european ancestry controls(p-value = 4E-12 ;OR = 1.45). 0.4 A genome-wide association study identifies six susceptibility loci for chronic lymphocytic leukemia. genome-wide association analysis NONHSAT159793.1 lncRNA Chronic lymphocytic leukemia 0.565 GTGAGAGAAG(G > A)GAGGTGTTCA chr11: 123490689 0.9006,0.09944 0.86138984454638124,0.13861015545361875 Region score:0.32; TSS score:0.32; Unmatched score:0.16; Average GERP:-0.529860396039604 GeneName:GRAMD1B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000023171; TranscriptID:ENST00000635736; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000445257; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001493 21738487 NONHSAT146109.2 rs11868035 G N/A 3,426 european ancestry cases//29,624 european ancestry controls EFO_0002508 N/A Associate Parkinson's disease rs11868035-G of NONHSAT146109.2 is significantly associated with the parkinson's disease by using GWAS analysis in 3,426 european ancestry cases//29,624 european ancestry controls(p-value = 6E-8 ;OR = 1.18). 0.4 Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease. genome-wide association analysis NONHSAT146109.2 lncRNA Parkinson's disease 0.33 CCAGGGACCT(G > A)ATGGGGACAG chr17: 17811787 0.4876,0.5124 0.65343877420998980,0.34656122579001019 Region score:0.34; TSS score:0.26; Unmatched score:0.52; Average GERP:-2.032128712871288 GeneName:MIR33B; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207839; TranscriptID:ENST00000385104; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR6777; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000274111; TranscriptID:ENST00000613934; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RAI1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000108557; TranscriptID:ENST00000353383; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SREBF1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000072310; TranscriptID:ENST00000355815; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001494 26953487 H2A/K chr6:26272485 A Dominant 10 kidney cancer patients EFO_0002890 N/A increasing risk renal carcinoma chr6:26272485 -A of H2A/K and its dysfunction is significantly associated with the increasing risk of Renal carcinoma by using analysis of sequence variation in 10 kidney cancer patients 0.9 H2A/K pseudogene mutation may promote cell proliferation. analysis of sequence variation H2A/K lncRNA Renal carcinoma 0.593 - - - - - - NCRV0000001495 28240269 NONHSAT179793.1 rs429358 ? N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0008029 N/A Associate Blood protein levels rs429358-? of NONHSAT179793.1 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 2E-12 ;OR = ?). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. genome-wide association analysis NONHSAT179793.1 lncRNA Apolipoprotein e measurement 0.33 GGAGGACGTG(T > C)GCGGCCGCCT chr19: 44908684 0.8494,0.1506 0.84440303261977573,0.15559696738022426 Region score:0.28; TSS score:0.39; Unmatched score:0.64; Average GERP:1.473687128712871 GeneName:AC011481.3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000280087; TranscriptID:ENST00000623895; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:APOE; CADD-Score:7; Consquence:missense; GeneID:ENSG00000130203; TranscriptID:ENST00000252486; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TOMM40; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000130204; TranscriptID:ENST00000252487; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001496 22778062 SNORA36B rs77219131 T N/A N/A function N/A not significant changes in the structure function rs77219131-T of SNORA36B and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in nan -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORA36B snoRNA function -0.049 AATTAACAGA(G > A)CAGGGAAGCT chr1: 220200638 0.9968,0.003195 0.99884524719673802,0.00115475280326197 Region score:0.64; TSS score:0.24; Unmatched score:0.61; Average GERP:1.7164752475247522 GeneName:MIR664A; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000281696; TranscriptID:ENST00000626086; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RAB3GAP2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000118873; TranscriptID:ENST00000358951; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORA36B; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000222370; TranscriptID:ENST00000410438; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001497 27863252 NONHSAT015107.2 rs116052829 T N/A 164,339 european ancestry individuals EFO_0007985 N/A Associate Plateletcrit rs116052829-T of NONHSAT015107.2 is significantly associated with the plateletcrit by using GWAS analysis in 164,339 european ancestry individuals(p-value = 1E-10 ;OR = 0.03848108). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT015107.2 lncRNA Plateletcrit 0.33 CCTTAGCAAA(C > T)CACACGGATC chr10: 79404390 0.9417,0.05831 0.92390577217125382,0.07609422782874617 Region score:0.3; TSS score:0.5; Unmatched score:0.42; Average GERP:1.3313465346534654 GeneName:AL133481.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000235426; TranscriptID:ENST00000438554; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ZCCHC24; CADD-Score:2; Consquence:intron; GeneID:ENSG00000165424; TranscriptID:ENST00000372336; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001498 25847876 miR-4717-5p rs161427 G Dominant 477 patients and 1096 controls EFO_0006788 N/A Increasing risk Anxiety-related traits rs161427-G of miR-4717-5p and its dysfunction is significantly associated with the increasing risk of anxiety-related traits by using case-control analysis in 477 patients and 1096 controls. 0.4 MicroRNA hsa-miR-4717-5p regulates RGS2 and may be a risk factor for anxiety-related traits. case-control analysis hsa-mir-4717 miRNA Anxiety disorder 0.33 GAAGGATGGT(A > G)TCTCCTGTGC chr16: 2274302 0.5423,0.4577 0.49661537971457696,0.50338462028542303 Region score:0.17; TSS score:0.23; Unmatched score:0.28; Average GERP:-0.6834237623762375 GeneName:ABCA3; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000167972; TranscriptID:ENST00000301732; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC009065.4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000260778; TranscriptID:ENST00000563734; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3677; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000266643; TranscriptID:ENST00000578964; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR4717; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000264004; TranscriptID:ENST00000584656; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR940; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000284346; TranscriptID:ENST00000401276; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001499 25646338 NONHSAT221600.1 rs7870863 A N/A 8,013 european ancestry individuals; 1,082 african american individuals//669 chinese ancestry individuals//657 hispanic individuals EFO_0006821 N/A Associate Trans fatty acid levels rs7870863-A of NONHSAT221600.1 is significantly associated with the trans fatty acid levels by using GWAS analysis in 8,013 european ancestry individuals; 1,082 african american individuals//669 chinese ancestry individuals//657 hispanic individuals(p-value = 4E-6 ;OR = 0.0048). 0.4 Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium. genome-wide association analysis NONHSAT221600.1 lncRNA Trans fatty acid measurement 0.33 CTGATAAAGG(C > A,T)ATGAGGCTGG chr9: 11136285 0.8069,0.1931,. 0.88978879969418960,0.11021120030581039,. Region score:0.27; TSS score:0.04; Unmatched score:0.01; Average GERP:0.07755445544554466 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001500 25614447 hsa-mir-5689 rs9295535 C N/a 576 patients with lung cancer in a southern chinese population, and the significant results were validated in two additional cohorts of 346 and 368 patients, respectively EFO_0001071 N/A No significance for risk Lung cancer rs9295535-C of hsa-mir-5689 and its dysfunction is not significantly associated with Lung Cancer by using case-control analysis in 576 patients with lung cancer in a southern Chinese population, and the significant results were validated in two additional cohorts of 346 and 368 patients, respectively. -0.4 Sequence Variation in Mature MicroRNA-499 Confers Unfavorable Prognosis of Lung Cancer Patients Treated with Platinum-Based Chemotherapy. case-control analysis hsa-mir-5689 miRNA Lung cancer -0.33 AGCATACACC(T > C)GTAGTCCTAG chr6: 10439735 0.7666,0.2334 0.80006848878695208,0.19993151121304791 Region score:0.25; TSS score:0.2; Unmatched score:0.24; Average GERP:-0.09583960396039609 GeneName:LINC00518; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000183674; TranscriptID:ENST00000496285; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR5689; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000263705; TranscriptID:ENST00000581998; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR5689HG; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000229401; TranscriptID:ENST00000366312; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001501 27863252 NONHSAT184477.1 rs4670779 T N/A 166,066 european ancestry individuals EFO_0004309 N/A Associate Platelet count rs4670779-T of NONHSAT184477.1 is significantly associated with the platelet count by using GWAS analysis in 166,066 european ancestry individuals(p-value = 9E-10 ;OR = 0.02442774). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT184477.1 lncRNA Platelet count 0.33 ATGACCTTGG(C > T)TCATAAATAC chr2: 37817201 0.7941,0.2059 0.76768762742099898,0.23231237257900101 Region score:0.26; TSS score:0.07; Unmatched score:0.35; Average GERP:0.7838029702970299 GeneName:AC010878.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000225402; TranscriptID:ENST00000456500; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001502 27863252 NONHSAT207134.1 rs1042133 C N/A 170,721 european ancestry individuals EFO_0005091 N/A Associate Monocyte count rs1042133-C of NONHSAT207134.1 is significantly associated with the monocyte count by using GWAS analysis in 170,721 european ancestry individuals(p-value = 3E-12 ;OR = 0.03465061). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT207134.1 lncRNA Monocyte count 0.33 CTGCTGCGGA(G > C)TACTGGAACA chr6: 33080829 0.8281,0.1719 0.85284467380224260,0.14715532619775739 Region score:0.29; TSS score:0.31; Unmatched score:0.75; Average GERP:-0.2918968316831685 GeneName:HLA-DPA1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000231389; TranscriptID:ENST00000419277; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HLA-DPB1; CADD-Score:7; Consquence:missense; GeneID:ENSG00000223865; TranscriptID:ENST00000418931; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000195743; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000788038; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RPL32P1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000224796; TranscriptID:ENST00000439737; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001503 28739976 NONHSAT163355.1 rs1015291 G N/A 150,134 european ancestry individuals; 87,359 european ancestry individuals//140,886 european and unknown ancestry individuals EFO_0006336 N/A Associate Diastolic blood pressure rs1015291-G of NONHSAT163355.1 is significantly associated with the diastolic blood pressure by using GWAS analysis in 150,134 european ancestry individuals; 87,359 european ancestry individuals//140,886 european and unknown ancestry individuals(p-value = 1E-7 ;OR = 0.243). 0.4 Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.LID - HYPERTENSIONAHA.117.09438 [pii]LID - 10.1161/HYPERTENSIONAHA.117.09438 [doi]AB - Elevated blood pressure genome-wide association analysis NONHSAT163355.1 lncRNA Diastolic blood pressure 0.33 TACCCTGCCT(A > G)AAGTCTTCTC chr12: 19831845 0.5164,0.4836 0.46575560652395514,0.53424439347604485 Region score:0.22; TSS score:0.1; Unmatched score:0.01; Average GERP:-0.39267227722772263 GeneName:AC024901.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000255910; TranscriptID:ENST00000535764; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001504 28928442 NONHSAT163505.1 rs116949241 ? N/A 40,600 european ancestry cases//90,039 european ancestry controls EFO_0008410 N/A Associate Pneumonia rs116949241-? of NONHSAT163505.1 is significantly associated with the pneumonia by using GWAS analysis in 40,600 european ancestry cases//90,039 european ancestry controls(p-value = 6E-6 ;OR = 0.1262). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. genome-wide association analysis NONHSAT163505.1 lncRNA Susceptibility to pneumonia measurement 0.33 CATCCACACA(A > G,T)TGGAATTCTG chr12: 47699779 0.9922,.,0.007788 0.98186639908256880,0.00000796381243628,0.01812563710499490 Region score:0.45; TSS score:0.04; Unmatched score:0.13; Average GERP:0.43501980198019785 GeneName:AC004241.3; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000276390; TranscriptID:ENST00000611728; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RPAP3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000005175; TranscriptID:ENST00000005386; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001505 22396660 NONHSAT205084.1 rs11746443 ? N/A 904 japanese ancestry cases//7,471 japanese ancestry controls; 4,892 japanese ancestry cases//9,873 japanese ancestry controls EFO_0004253 N/A Associate Nephrolithiasis rs11746443-? of NONHSAT205084.1 is significantly associated with the nephrolithiasis by using GWAS analysis in 904 japanese ancestry cases//7,471 japanese ancestry controls; 4,892 japanese ancestry cases//9,873 japanese ancestry controls(p-value = 9E-12 ;OR = 1.19). 0.4 A genome-wide association study of nephrolithiasis in the Japanese population identifies novel susceptible Loci at 5q35.3, 7p14.3, and 13q14.1. genome-wide association analysis NONHSAT205084.1 lncRNA Nephrolithiasis 0.33 GAGGAAGGGG(G > A)TCCAGGTGGG chr5: 177371305 0.8227,0.1773 0.80344514525993883,0.19655485474006116 Region score:0.19; TSS score:0.24; Unmatched score:0.87; Average GERP:-0.725522772277228 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000191328; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000318785; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RGS14; CADD-Score:2; Consquence:intron; GeneID:ENSG00000169220; TranscriptID:ENST00000408923; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001506 22778062 SNORA78 rs17135730 T N/a N/a function N/A Not significant changes in the structure Function rs17135730-T of SNORA78 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORA78 snoRNA Function -0.049 GCGCCCAGAG(C > A,T)CCCCGGGGGC chr16: 1965244 0.997,.,0.002995 0.99874171763506625,.,0.00125828236493374 Region score:0.41; TSS score:0.39; Unmatched score:0.87; Average GERP:2.0607039603960398 GeneName:AC005363.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000255513; TranscriptID:ENST00000530779; AnnoType:UPSTREAM; mirSVR-Score:-0.0545; mirSVR-E:-20.96 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000082416; AnnoType:REGULATORY; mirSVR-Score:-0.0545; mirSVR-E:-20.96 | GeneName:NDUFB10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000140990; TranscriptID:ENST00000268668; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0545; mirSVR-E:-20.96 | GeneName:RNF151; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000179580; TranscriptID:ENST00000569714; AnnoType:UPSTREAM; mirSVR-Score:-0.0545; mirSVR-E:-20.96 | GeneName:RPS2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000140988; TranscriptID:ENST00000343262; AnnoType:UPSTREAM; mirSVR-Score:-0.0545; mirSVR-E:-20.96 | GeneName:SNHG9; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000255198; TranscriptID:ENST00000564014; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0545; mirSVR-E:-20.96 | GeneName:SNORA10; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000206811; TranscriptID:ENST00000384084; AnnoType:UPSTREAM; mirSVR-Score:-0.0545; mirSVR-E:-20.96 | GeneName:SNORA64; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207405; TranscriptID:ENST00000384674; AnnoType:UPSTREAM; mirSVR-Score:-0.0545; mirSVR-E:-20.96 | GeneName:SNORA78; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000273587; TranscriptID:ENST00000459373; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0545; mirSVR-E:-20.96 | NCRV0000001507 28067908 NONHSAT067101.2 rs516246 ? N/A 12,194 european and unknown ancestry cases//28,072 european and unknown ancestry controls EFO_0000384 N/A Associate Crohn's disease rs516246-? of NONHSAT067101.2 is significantly associated with the crohn's disease by using GWAS analysis in 12,194 european and unknown ancestry cases//28,072 european and unknown ancestry controls(p-value = 4E-11 ;OR = ?). 0.4 Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease. genome-wide association analysis NONHSAT067101.2 lncRNA Crohn's disease 0.52 CCCGGGCCTC(C > T)ATCTCCCAGC chr19: 48702915 0.6793,0.3207 0.56168769113149847,0.43831230886850152 Region score:0.17; TSS score:0.18; Unmatched score:0.15; Average GERP:-1.6955256435643564 GeneName:FUT2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000176920; TranscriptID:ENST00000425340; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001507 23128233 NONHSAT067101.2 rs516246 T N/A up to 12,924 european ancestry cases//up to 21,442 european ancestry controls; up to 25,683 european ancestry cases//up to 17,015 european ancestry controls EFO_0000384 N/A Associate Crohn's disease rs516246-T of NONHSAT067101.2 is significantly associated with the crohn's disease by using GWAS analysis in up to 12,924 european ancestry cases//up to 21,442 european ancestry controls; up to 25,683 european ancestry cases//up to 17,015 european ancestry controls(p-value = 1E-15 ;OR = 1.107). 0.4 Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. genome-wide association analysis NONHSAT067101.2 lncRNA Crohn's disease 0.52 CCCGGGCCTC(C > T)ATCTCCCAGC chr19: 48702915 0.6793,0.3207 0.56168769113149847,0.43831230886850152 Region score:0.17; TSS score:0.18; Unmatched score:0.15; Average GERP:-1.6955256435643564 GeneName:FUT2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000176920; TranscriptID:ENST00000425340; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001507 26192919 NONHSAT067101.2 rs516246 A N/A 5,956 european ancestry cases//14,927 european ancestry controls; 14,594 european ancestry cases//26,715 european ancestry controls//151 iranian ancestry cases//342 iranian ancestry controls//184 indian ancestry cases//990 indian ancestry controls//1,690 east asian ancestry cases//3,719 east asian ancestry controls EFO_0000384 N/A Associate Crohn's disease rs516246-A of NONHSAT067101.2 is significantly associated with the crohn's disease by using GWAS analysis in 5,956 european ancestry cases//14,927 european ancestry controls; 14,594 european ancestry cases//26,715 european ancestry controls//151 iranian ancestry cases//342 iranian ancestry controls//184 indian ancestry cases//990 indian ancestry controls//1,690 east asian ancestry cases//3,719 east asian ancestry controls(p-value = 1E-20 ;OR = 1.1213977). 0.4 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. genome-wide association analysis NONHSAT067101.2 lncRNA Crohn's disease 0.52 CCCGGGCCTC(C > T)ATCTCCCAGC chr19: 48702915 0.6793,0.3207 0.56168769113149847,0.43831230886850152 Region score:0.17; TSS score:0.18; Unmatched score:0.15; Average GERP:-1.6955256435643564 GeneName:FUT2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000176920; TranscriptID:ENST00000425340; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001508 27864917 miR-708 rs56158925 T N/a 2078 subjects with bipolar disorder and 1355 healthy controls. EFO_0000289 N/A No significance for risk Bipolar disorder rs56158925-T of miR-708 and its dysfunction is not significantly associated with bipolar disorder by using case-control analysis in 2078 subjects with bipolar disorder and 1355 healthy controls -0.4 Genetic variation in the miR-708 gene and its binding targets in bipolar disorder. case-control analysis hsa-mir-708 miRNA Bipolar disorder -0.33 TTGGTGAGCA(G > A)GTTGAGTTGG chr11: 79401834 0.9177,0.08227 0.92345979867482161,0.07654020132517838 Region score:0.39; TSS score:0.22; Unmatched score:0.27; Average GERP:-0.5693673267326732 GeneName:MIR708; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000211997; TranscriptID:ENST00000390708; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TENM4; CADD-Score:2; Consquence:intron; GeneID:ENSG00000149256; TranscriptID:ENST00000278550; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001509 29047230 SNHG7 SNHG7 Amplification - Dominant Hepatocellular carcinoma and normal tissues using tcga rna sequencing data EFO_0000182 N/A Poor prognosis Hepatocellular carcinoma Amplification of SNHG7 and its dysfunction is significantly associated with the poor prognosis of hepatocellular carcinoma by using case-control analysis in hepatocellular carcinoma and normal tissues using TCGA RNA sequencing data. By using the disease cell lines or tissues, the interference of SNHG7 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 A comprehensive genome-wide analysis of long noncoding RNA expression profile in hepatocellular carcinoma. analysis of sequence variation; Function SNHG7 snoRNA Hepatocellular cancer 0.593 N/A N/A N/A N/A N/A N/A NCRV0000001510 26634245 NONHSAT186566.1 rs150411716 T N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs150411716-T of NONHSAT186566.1 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 3E-6 ;OR = 1.69). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT186566.1 lncRNA Pulmonary function measurement 0.33 TGGCTGTCCA(C > T)ACCCTCCCAC chr2: 374709 0.9978,0.002196 0.99564379459734964,0.00435620540265035 Region score:0.41; TSS score:0.26; Unmatched score:0.17; Average GERP:-1.8870376237623752 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001511 27863252 NONHSAT217884.1 rs7826487 G N/A 170,721 european ancestry individuals EFO_0005091 N/A Associate Monocyte count rs7826487-G of NONHSAT217884.1 is significantly associated with the monocyte count by using GWAS analysis in 170,721 european ancestry individuals(p-value = 7E-17 ;OR = 0.04697075). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT217884.1 lncRNA Monocyte count 0.33 GCCTCTCTAT(A > G)ATATTGTTGA chr8: 7023403 0.8401,0.1599 0.83071323904179408,0.16928676095820591 Region score:0.3; TSS score:0.29; Unmatched score:0.14; Average GERP:-0.018247524752475222 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001512 22267201 NONHSAT151469.1 rs4246511 T N/A 38,968 european ancestry female individuals; up to 14,435 european ancestry female individuals EFO_0004704 N/A Associate Menopause (age at onset) rs4246511-T of NONHSAT151469.1 is significantly associated with the menopause (age at onset) by using GWAS analysis in 38,968 european ancestry female individuals; up to 14,435 european ancestry female individuals(p-value = 9E-17 ;OR = 0.24). 0.4 Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. genome-wide association analysis NONHSAT151469.1 lncRNA Age at menopause 0.33 ATACTAATAT(T > C)GGGCAGTTAT chr1: 38914713 0.5525,0.4475 0.45510002548419979,0.54489997451580020 Region score:0.23; TSS score:0.11; Unmatched score:0.18; Average GERP:0.16515346534653474 GeneName:AL139260.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000228436; TranscriptID:ENST00000433671; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RHBDL2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000158315; TranscriptID:ENST00000289248; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001513 28928442 NONHSAT178998.1 rs139082285 ? N/A 52,218 european ancestry cases//10,235 european ancestry controls EFO_0008412 N/A Associate Yeast infection rs139082285-? of NONHSAT178998.1 is significantly associated with the yeast infection by using GWAS analysis in 52,218 european ancestry cases//10,235 european ancestry controls(p-value = 6E-6 ;OR = 0.1433). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. genome-wide association analysis NONHSAT178998.1 lncRNA Susceptibility to vaginal yeast infection measurement 0.33 TGCTGCCTAT(C > G)AAAACAATGT chr18: 37950423 0.9968,0.003195 0.99458460754332313,0.00541539245667686 Region score:0.33; TSS score:0.24; Unmatched score:0.03; Average GERP:-0.5820970297029702 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001514 27863252 NONHSAT142350.2 rs535680968 CT N/A 172,378 european ancestry individuals EFO_0007991 N/A Associate Eosinophil percentage of white cells rs535680968-CT of NONHSAT142350.2 is significantly associated with the eosinophil percentage of white cells by using GWAS analysis in 172,378 european ancestry individuals(p-value = 1E-12 ;OR = 0.02823114). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT142350.2 lncRNA Eosinophil percentage of leukocytes 0.33 TACTTATTTA(C > CT,CTT,CTTT)TTTTTTTTTT chr16: 48622152 0.5899,0.4101,.,. 0.57713748725790010,0.38292399337410805,0.03986684505606523,0.00007167431192660 N/A GeneName:AC007611.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000260086; TranscriptID:ENST00000564212; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC023813.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000259912; TranscriptID:ENST00000565055; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:N4BP1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000102921; TranscriptID:ENST00000564124; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001515 28177126 SNORD118 rs146107438 ? Dominant 8 unrelated families with LCC Orphanet_313838 N/A increasing risk Coats plus syndrome rs146107438-? of SNORD118 and its dysfunction is significantly associated with the increasing risk of Coats plus syndrome by using Pedigree analysis in 8 unrelated families with LCC 0.4 Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts. Pedigree analysis SNORD118 snoRNA Coats plus syndrome 0.33 AATCTGCCCT(C > CA)CGGAGGAGGA chr17: 8173550 0 0.99940271406727828,0.00059728593272171 - GeneName:AC129492.4; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000266824; TranscriptID:ENST00000581248; AnnoType:UPSTREAM; mirSVR-Score:-0.7493; mirSVR-E:-13.76 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000282324; AnnoType:REGULATORY; mirSVR-Score:-0.7493; mirSVR-E:-13.76 | GeneName:SNORD118; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000200463; TranscriptID:ENST00000363593; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.7493; mirSVR-E:-13.76 | GeneName:TMEM107; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000179029; TranscriptID:ENST00000316425; AnnoType:DOWNSTREAM; mirSVR-Score:-0.7493; mirSVR-E:-13.76 | NCRV0000001516 25614447 hsa-mir-4520a rs8078913 C N/A 576 patients with lung cancer in a southern Chinese population, and the significant results were validated in two additional cohorts of 346 and 368 patients, respectively EFO_0001071 N/A no significance for risk lung carcinoma rs8078913-C of hsa-mir-4520-1 and its dysfunction is not significantly associated with Lung carcinoma by using case-control analysis in 576 patients with lung cancer in a southern Chinese population, and the significant results were validated in two additional cohorts of 346 and 368 patients, respectively -0.4 Sequence Variation in Mature MicroRNA-499 Confers Unfavorable Prognosis of Lung Cancer Patients Treated with Platinum-Based Chemotherapy. case-control analysis hsa-mir-4520-1 miRNA Lung carcinoma -0.33 ATTCCTTCTT(C > G,T)CTGCGTGTTT chr17: 6655449 0.3998,.,0.6002 0.44837856778797145,0.00009556574923547,0.55152586646279306 Region score:0.26; TSS score:0.42; Unmatched score:0.61; Average GERP:0.03426133663366329 GeneName:AC004706.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000261996; TranscriptID:ENST00000576138; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ALOX15P1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000274114; TranscriptID:ENST00000634478; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:C17orf100; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000256806; TranscriptID:ENST00000542475; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MED31; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000108590; TranscriptID:ENST00000225728; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR4520-1; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000264468; TranscriptID:ENST00000582609; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR4520-2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283301; TranscriptID:ENST00000636586; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000090741; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000548298; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001517 22589738 NONHSAT154607.1 rs12022722 T N/A 5,560 european ancestry female individuals//4,997 european ancestry male individuals EFO_0004767 N/A Associate Visceral adipose tissue/subcutaneous adipose tissue ratio rs12022722-T of NONHSAT154607.1 is significantly associated with the visceral adipose tissue/subcutaneous adipose tissue ratio by using GWAS analysis in 5,560 european ancestry female individuals//4,997 european ancestry male individuals(p-value = 2E-6 ;OR = ?). 0.4 Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. genome-wide association analysis NONHSAT154607.1 lncRNA Visceral:subcutaneous adipose tissue ratio 0.33 CTGGCTCAAG(C > T)GCCATTCTGC chr1: 219477791 0.6867,0.3133 0.67172368756371049,0.32827631243628950 Region score:0.57; TSS score:0.43; Unmatched score:0.15; Average GERP:2.117446534653465 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001518 28334935 NONHSAT210353.1 rs113507773 G N/A 12,589 hispanic/latino individuals EFO_0006333 N/A Associate Iron status biomarkers (transferrin saturation) rs113507773-G of NONHSAT210353.1 is significantly associated with the iron status biomarkers (transferrin saturation) by using GWAS analysis in 12,589 hispanic/latino individuals(p-value = 2E-12 ;OR = 0.157). 0.4 Genome-wide association study of iron traits and relation to diabetes in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL): potential genomic intersection of iron and glucose regulation? genome-wide association analysis NONHSAT210353.1 lncRNA Transferrin saturation measurement 0.33 AGGCCGAGGC(G > A)GGCGGATCAT chr6: 26255511 0.9177,0.08227 0.90538990825688073,0.09461009174311926 Region score:0.38; TSS score:0.28; Unmatched score:0.24; Average GERP:-0.5777237623762379 GeneName:HIST1H2BH; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000275713; TranscriptID:ENST00000619466; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HIST1H3F; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277775; TranscriptID:ENST00000618052; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001519 28604728 NONHSAT027070.2 rs2900333 C N/A 5,518 european ancestry cases//19,055 european ancestry controls; 1,801 european ancestry cases//4,027 european ancestry controls EFO_1000566 N/A Associate Testicular germ cell tumor rs2900333-C of NONHSAT027070.2 is significantly associated with the testicular germ cell tumor by using GWAS analysis in 5,518 european ancestry cases//19,055 european ancestry controls; 1,801 european ancestry cases//4,027 european ancestry controls(p-value = 9E-13 ;OR = 1.2). 0.4 Identification of 19 new risk loci and potential regulatory mechanisms influencing susceptibility to testicular germ cell tumor. genome-wide association analysis NONHSAT027070.2 lncRNA Testicular germ cell tumor 0.451 AGGGAGAAAT(C > A,G,T)GCAATTATTT chr12: 14500933 0.733,.,.,0.267 0.72176032110091743,0.00004778287461773,0.00001592762487257,0.27817596839959225 Region score:0.39; TSS score:0.47; Unmatched score:0.34; Average GERP:0.8622478217821781 GeneName:ATF7IP; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000171681; TranscriptID:ENST00000544627; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PLBD1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000121316; TranscriptID:ENST00000240617; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001519 28604732 NONHSAT027070.2 rs2900333 T N/A 3,558 european ancestry cases//13,970 european ancestry controls EFO_1000566 N/A Associate Testicular germ cell tumor rs2900333-T of NONHSAT027070.2 is significantly associated with the testicular germ cell tumor by using GWAS analysis in 3,558 european ancestry cases//13,970 european ancestry controls(p-value = 3E-8 ;OR = 1.1764705). 0.4 Meta-analysis of five genome-wide association studies identifies multiple new loci associated with testicular germ cell tumor. genome-wide association analysis NONHSAT027070.2 lncRNA Testicular germ cell tumor 0.451 AGGGAGAAAT(C > A,G,T)GCAATTATTT chr12: 14500933 0.733,.,.,0.267 0.72176032110091743,0.00004778287461773,0.00001592762487257,0.27817596839959225 Region score:0.39; TSS score:0.47; Unmatched score:0.34; Average GERP:0.8622478217821781 GeneName:ATF7IP; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000171681; TranscriptID:ENST00000544627; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PLBD1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000121316; TranscriptID:ENST00000240617; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001520 26634245 NONHSAT205668.1 rs76640434 A N/A 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio in copd rs76640434-A of NONHSAT205668.1 is significantly associated with the post bronchodilator fev1/fvc ratio in copd by using GWAS analysis in 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases(p-value = 1E-6 ;OR = 0.071). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT205668.1 lncRNA Pulmonary function measurement 0.33 TTTCAGTCCC(G > A)TACATTTCCA chr5: 43435641 0.9822,0.01777 0.98399273700305810,0.01600726299694189 Region score:0.41; TSS score:0.23; Unmatched score:0.06; Average GERP:0.06973564356435649 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001521 27863252 NONHSAT168300.1 rs8020739 T N/A 172,378 european ancestry individuals EFO_0007991 N/A Associate Eosinophil percentage of white cells rs8020739-T of NONHSAT168300.1 is significantly associated with the eosinophil percentage of white cells by using GWAS analysis in 172,378 european ancestry individuals(p-value = 3E-12 ;OR = 0.02611942). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT168300.1 lncRNA Eosinophil percentage of leukocytes 0.33 GGCAGGAGGA(G > T)GGGAGTCACA chr14: 35413286 0.2913,0.7087 0.32963812436289500,0.67036187563710499 Region score:0.4; TSS score:0.46; Unmatched score:0.59; Average GERP:-1.0199084158415843 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000494827; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001522 25194280 NONHSAT162783.1 rs10492336 ? N/A 993 chinese ancestry cases//1,995 chinese ancestry controls; 2,398 chinese ancestry cases//2,804 chinese ancestry controls EFO_0006352 N/A Associate Laryngeal squamous cell carcinoma rs10492336-? of NONHSAT162783.1 is significantly associated with the laryngeal squamous cell carcinoma by using GWAS analysis in 993 chinese ancestry cases//1,995 chinese ancestry controls; 2,398 chinese ancestry cases//2,804 chinese ancestry controls(p-value = 4E-14 ;OR = 1.41). 0.4 Genome-wide association study identifies three susceptibility loci for laryngeal squamous cell carcinoma in the Chinese population. genome-wide association analysis NONHSAT162783.1 lncRNA Laryngeal squamous cell cancer 0.33 CTAATTCACA(A > C,T)GGGCTATCTC chr12: 114147775 N/A 0.22415742864424057,0.77440908511722731,0.00143348623853211 Region score:0.34; TSS score:0.18; Unmatched score:0.03; Average GERP:-0.691389108910891 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001523 27156151 miR-146a rs2910164 G N/a 354 korean women: 120 patients with rif and 234 healthy controls with at least one live birth and no history of pregnancy loss MP_0001728 N/A No significance for risk Recurrent implantation failure rs2910164-G of miR-146a and its dysfunction is not significantly associated with recurrent implantation failure by using case-control analysis in 354 Korean women: 120 patients with RIF and 234 healthy controls with at least one live birth and no history of pregnancy loss. -0.4 Association of miR-146aC>G, miR-149C>T, miR-196a2T>C, and miR-499A>G polymorphisms with risk of recurrent implantation failure in Korean women. case-control analysis hsa-mir-146a miRNA Failure of embryo implantation -0.33 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 N/A 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001524 24618566 miR-499 rs3746444 G Dominant 213 b-cell all patients and 387 controls EFO_1001947 N/A Decreasing risk Pediatric acute lymphoblastic leukemia rs3746444-G of miR-499 and its dysfunction is significantly associated with the decreasing risk of pediatric acute lymphoblastic leukemia by using case-control analysis in 213 B-cell ALL patients and 387 controls. 0.4 Noncoding RNA-related polymorphisms in pediatric acute lymphoblastic leukemia susceptibility. case-control analysis hsa-mir-499a miRNA Childhood t acute lymphoblastic leukemia 0.33 CCACGTGAAC(A > G)TCACAGCAAG chr20: 34990448 0.8165,0.1835 0.81708715596330275,0.18291284403669724 Region score:0.79; TSS score:0.85; Unmatched score:0.95; Average GERP:3.757564356435645 GeneName:MIR499A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207635; TranscriptID:ENST00000384903; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR499B; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283441; TranscriptID:ENST00000636498; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYH7B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000078814; TranscriptID:ENST00000262873; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001525 22923026 NONHSAT216393.1 rs13254738 C N/A 1,033 japanese ancestry cases//1,042 japanese ancestry controls//1,043 latino cases//1,057 latino controls; 1,583 japanese ancestry cases//3,386 japanese ancestry controls//1,854 european ancestry cases//3,748 european ancestry controls EFO_0001663 N/A Associate Prostate cancer rs13254738-C of NONHSAT216393.1 is significantly associated with the prostate cancer by using GWAS analysis in 1,033 japanese ancestry cases//1,042 japanese ancestry controls//1,043 latino cases//1,057 latino controls; 1,583 japanese ancestry cases//3,386 japanese ancestry controls//1,854 european ancestry cases//3,748 european ancestry controls(p-value = 4E-10 ;OR = 1.59). 0.4 Evaluating genetic risk for prostate cancer among Japanese and Latinos. genome-wide association analysis NONHSAT216393.1 lncRNA Prostate cancer 0.33 TGCAGAATGC(C > A,T)ATTCTAAAAT chr8: 127092098 0.5325,0.4675,. 0.45511595310907237,0.54487608307849133,0.00000796381243628 Region score:0.37; TSS score:0.26; Unmatched score:0.14; Average GERP:-0.19385482178217817 GeneName:AC020688.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000224722; TranscriptID:ENST00000519282; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CASC19; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000254166; TranscriptID:ENST00000642100; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PCAT1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000253438; TranscriptID:ENST00000646670; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PRNCR1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000282961; TranscriptID:ENST00000635449; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001526 27089181 NONHSAT004199.2 rs17131635 T N/A 170,911 european ancestry individuals EFO_0007660 N/A Associate Neuroticism rs17131635-T of NONHSAT004199.2 is significantly associated with the neuroticism by using GWAS analysis in 170,911 european ancestry individuals(p-value = 9E-6 ;OR = 0.015904061). 0.4 Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses. genome-wide association analysis NONHSAT004199.2 lncRNA Neuroticism measurement 0.33 GACAAGGTCC(C > G,T)GAATGGTGTC chr1: 84370016 0.6474,.,0.3526 0.69297910295616717,0.00003185524974515,0.30698904179408766 Region score:0.54; TSS score:0.59; Unmatched score:0.61; Average GERP:1.896254455445544 GeneName:SAMD13; CADD-Score:2; Consquence:intron; GeneID:ENSG00000203943; TranscriptID:ENST00000454967; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:UOX; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000240520; TranscriptID:ENST00000638856; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001527 28247064 NONHSAT188843.1 rs2664588 T N/A 3,146 individuals EFO_0000249 N/A Associate Cerebrospinal fluid ab1-42 levels rs2664588-T of NONHSAT188843.1 is significantly associated with the cerebrospinal fluid ab1-42 levels by using GWAS analysis in 3,146 individuals(p-value = 2E-6 ;OR = 0.019). 0.4 Genome-wide association study identifies four novel loci associated with Alzheimer's endophenotypes and disease modifiers. genome-wide association analysis NONHSAT188843.1 lncRNA Alzheimers disease 0.33 TACACACATA(C > T)GCAGACTCAC chr20: 47951890 0.7298,0.2702 0.67300586136595310,0.32699413863404689 Region score:0.42; TSS score:0.39; Unmatched score:0.63; Average GERP:-0.8303019801980198 GeneName:AL357558.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000234967; TranscriptID:ENST00000431915; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000653059; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001528 25751625 NONHSAT217627.1 rs11780156 T N/A 15,748 european ancestry cases//18,084 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls EFO_0000305 N/A Associate Breast cancer rs11780156-T of NONHSAT217627.1 is significantly associated with the breast cancer by using GWAS analysis in 15,748 european ancestry cases//18,084 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls(p-value = 2E-9 ;OR = 1.07). 0.4 Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer. genome-wide association analysis NONHSAT217627.1 lncRNA Breast cancer 0.52 ACACAGCTAC(C > T)TCCCACCACC chr8: 128182395 0.8562,0.1438 0.86279943934760448,0.13720056065239551 Region score:0.42; TSS score:0.44; Unmatched score:0.27; Average GERP:-0.5919643564356437 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000869539; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001528 23535729 NONHSAT217627.1 rs11780156 T N/A 10,052 european ancestry cases//12,575 european ancestry controls; 45,290 european ancestry cases//41,880 european ancestry controls EFO_0000305 N/A Associate Breast cancer rs11780156-T of NONHSAT217627.1 is significantly associated with the breast cancer by using GWAS analysis in 10,052 european ancestry cases//12,575 european ancestry controls; 45,290 european ancestry cases//41,880 european ancestry controls(p-value = 3E-11 ;OR = 1.07). 0.4 Large-scale genotyping identifies 41 new loci associated with breast cancer risk. genome-wide association analysis NONHSAT217627.1 lncRNA Breast cancer 0.52 ACACAGCTAC(C > T)TCCCACCACC chr8: 128182395 0.8562,0.1438 0.86279943934760448,0.13720056065239551 Region score:0.42; TSS score:0.44; Unmatched score:0.27; Average GERP:-0.5919643564356437 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000869539; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001528 29059683 NONHSAT217627.1 rs11780156 T N/A 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls EFO_0000305 N/A Associate Breast cancer rs11780156-T of NONHSAT217627.1 is significantly associated with the breast cancer by using GWAS analysis in 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls(p-value = 1E-13 ;OR = 1.05). 0.4 Association analysis identifies 65 new breast cancer risk loci. genome-wide association analysis NONHSAT217627.1 lncRNA Breast cancer 0.52 ACACAGCTAC(C > T)TCCCACCACC chr8: 128182395 0.8562,0.1438 0.86279943934760448,0.13720056065239551 Region score:0.42; TSS score:0.44; Unmatched score:0.27; Average GERP:-0.5919643564356437 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000869539; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001529 27636879 MIR3192 rs11907020 C N/a 899 individuals with crcs categorized by clinical subtypes and in 204 controls EFO_0005842 N/A Increasing risk Colorectal cancer rs11907020-C of MIR3192 and its dysfunction is significantly associated with the increasing risk of colorectal cancer by using case-control analysis in 899 individuals with CRCs categorized by clinical subtypes and in 204 controls. 0.4 Germline miRNA DNA variants and the risk of colorectal cancer by subtype. case-control analysis hsa-mir-3192 miRNA Colorectal cancer 0.33 CCCTCTCAGC(T > C)CTTTCCTTCT chr20: 18470681 0.9657,0.03435 0.96238691386340468,0.03761308613659531 Region score:0.41; TSS score:0.16; Unmatched score:0.41; Average GERP:0.29277920792079204 GeneName:DZANK1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000089091; TranscriptID:ENST00000262547; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3192; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000265137; TranscriptID:ENST00000584920; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:POLR3F; CADD-Score:2; Consquence:intron; GeneID:ENSG00000132664; TranscriptID:ENST00000377603; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001530 28530673 NONHSAT167990.1 rs2251499 T N/A up to 58,799 european ancestry adults//up to 19,509 european ancestry children EFO_0004337 N/A Associate Intelligence rs2251499-T of NONHSAT167990.1 is significantly associated with the intelligence by using GWAS analysis in up to 58,799 european ancestry adults//up to 19,509 european ancestry children(p-value = 3E-10 ;OR = 6.313). 0.4 Genome-wide association meta-analysis of 78,308 individuals identifies new loci and genes influencing human intelligence. genome-wide association analysis NONHSAT167990.1 lncRNA Intelligence 0.33 AAATGTAATA(T > A,C,G)GCTCATCCCC chr13: 105987507 0.1795,.,0.8205,. 0.19704861111111111,0.01318807339449541,0.78971553261977573,0.00004778287461773 Region score:0.25; TSS score:0.12; Unmatched score:0.02; Average GERP:0.04915881188118827 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001531 20713499 NONHSAT192758.1 rs1001021 A N/A 402 european ancestry schizophrenia cases//1,021 european ancestry bipolar i cases//493 european ancestry bipolar ii cases//1,210 european ancestry mdd cases//1,060 european ancestry controls EFO_0000677 N/A Associate Schizophrenia//bipolar disorder and depression (combined) rs1001021-A of NONHSAT192758.1 is significantly associated with the schizophrenia//bipolar disorder and depression (combined) by using GWAS analysis in 402 european ancestry schizophrenia cases//1,021 european ancestry bipolar i cases//493 european ancestry bipolar ii cases//1,210 european ancestry mdd cases//1,060 european ancestry controls(p-value = 2E-6 ;OR = ?). 0.4 Cross-disorder genomewide analysis of schizophrenia, bipolar disorder, and depression. genome-wide association analysis NONHSAT192758.1 lncRNA Mental or behavioural disorder 0.33 CTTTGAATAT(G > A)TTTATAGCTT chr22: 26007633 0.8992,0.1008 0.94104389653414882,0.05895610346585117 Region score:0.36; TSS score:0.22; Unmatched score:0.24; Average GERP:-0.4645297029702972 GeneName:MYO18B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000133454; TranscriptID:ENST00000407587; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:Z98949.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000232050; TranscriptID:ENST00000440996; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001532 28181414 miR-499 rs3746444 G N/a 176 ar patients and 206 healthy chinese children as controls EFO_0005854 N/A No significance for risk Allergic rhinitis rs3746444-G of miR-499 and its dysfunction is not significantly associated with allergic rhinitis by using case-control analysis in 176 AR patients and 206 healthy Chinese children as controls. -0.4 A functional variant of miRNA-149 confers risk for allergic rhinitis and comorbid asthma in Chinese children. case-control analysis hsa-mir-499a miRNA Allergic rhinitis -0.33 CCACGTGAAC(A > G)TCACAGCAAG chr20: 34990448 0.8165,0.1835 0.81708715596330275,0.18291284403669724 Region score:0.79; TSS score:0.85; Unmatched score:0.95; Average GERP:3.757564356435645 GeneName:MIR499A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207635; TranscriptID:ENST00000384903; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR499B; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283441; TranscriptID:ENST00000636498; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYH7B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000078814; TranscriptID:ENST00000262873; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001533 23613822 miR-27a rs895819 C N/a 2,380 participants with diverse gastric lesions Orphanet_92050 N/A No significance for risk Helicobacter pylori-induced intestinal metaplasia or dysplasia rs895819-C of miR-27a and its dysfunction is not significantly associated with Helicobacter pylori-induced intestinal metaplasia or dysplasia by using analysis of sequence variation in 2,380 participants with diverse gastric lesions. -0.4 Genetic polymorphisms of miR-146a and miR-27a, H. pylori infection, and risk of gastric lesions in a Chinese population. analysis of sequence variation hsa-mir-27a miRNA Congenital tufting enteropathy -0.33 CACGACTTGG(T > C)GTGGACCCTG chr19: 13836478 0.6362,0.3638 0.63091711264016309,0.36908288735983690 Region score:0.57; TSS score:0.41; Unmatched score:0.75; Average GERP:2.158386138613861 GeneName:AC020916.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000267519; TranscriptID:ENST00000587762; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR23A; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207980; TranscriptID:ENST00000385245; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR24-2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284387; TranscriptID:ENST00000386972; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR27A; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207808; TranscriptID:ENST00000385073; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000107447; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ZSWIM4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000132003; TranscriptID:ENST00000254323; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001534 25673412 NONHSAT192305.1 rs1053593 T N/A up to 56,910 european ancestry men//up to 86,570 european ancestry women; up to 36,570 european ancestry men//30,172 european ancestry women//915 filipino ancestry men//735 filipino ancestry women//2,351 african american/afro-caribbean ancestry men//6,258 african american/afro-caribbean ancestry women//2,285 south asian ancestry men//506 south asian ancestry women//195 seychellois ancestry men//266 seychellois ancestry women EFO_0005093 adjusted for BMI Associate Hip circumference adjusted for bmi rs1053593-T of NONHSAT192305.1 is significantly associated with the hip circumference adjusted for bmi by using GWAS analysis in up to 56,910 european ancestry men//up to 86,570 european ancestry women; up to 36,570 european ancestry men//30,172 european ancestry women//915 filipino ancestry men//735 filipino ancestry women//2,351 african american/afro-caribbean ancestry men//6,258 african american/afro-caribbean ancestry women//2,285 south asian ancestry men//506 south asian ancestry women//195 seychellois ancestry men//266 seychellois ancestry women(p-value = 2E-9 ;OR = 0.0285). 0.4 New genetic loci link adipose and insulin biology to body fat distribution. genome-wide association analysis NONHSAT192305.1 lncRNA Hip circumference 0.33 GAGGATGGTG(G > C,T)CTCCCACAAA chr22: 35264882 0.5475,.,0.4525 0.51239965596330275,.,0.48760034403669724 Region score:0.43; TSS score:0.52; Unmatched score:0.75; Average GERP:2.852722475247523 GeneName:HMGXB4; CADD-Score:7; Consquence:missense; GeneID:ENSG00000100281; TranscriptID:ENST00000216106; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001535 28358873 NEAT1 chr11:65192209 ? Dominant 278 pRCC patients EFO_0000640 N/A poor prognosis papillary renal cell carcinoma chr11:65192209-? of NEAT1 and its dysfunction is significantly associated with the poor prognosis of Papillary renal cell carcinoma by using analysis of sequence variation in 278 pRCC patients 0.4 Whole-genome analysis of papillary kidney cancer finds significant noncoding alterations. analysis of sequence variation NEAT1 lncRNA Papillary renal cell carcinoma 0.451 - chr11:65192209 - - - - NCRV0000001535 28358873 NEAT1 chr11:65192209 - Dominant 278 prcc patients EFO_0000640 N/A Poor prognosis Papillary renal-cell carcinoma chr11:65192209 of NEAT1 and its dysfunction is significantly associated with the poor prognosis of papillary renal-cell carcinoma by using analysis of sequence variation in 278 pRCC patients . 0.4 Whole-genome analysis of papillary kidney cancer finds significant noncoding alterations. analysis of sequence variation NEAT1 lncRNA Papillary renal cell cancer 0.451 N/A N/A N/A N/A N/A N/A NCRV0000001536 25130324 NONHSAT170239.1 rs10484157 T N/A 1,778 european ancestry individuals//1,276 individuals EFO_0005852 N/A Associate Heschl's gyrus morphology rs10484157-T of NONHSAT170239.1 is significantly associated with the heschl's gyrus morphology by using GWAS analysis in 1,778 european ancestry individuals//1,276 individuals(p-value = 5E-6 ;OR = 10.01). 0.4 A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus. genome-wide association analysis NONHSAT170239.1 lncRNA Heschl's gyrus morphology measurement 0.33 GCACTGATTA(C > T)GTGAGTAGGT chr14: 83323001 0.9567,0.04333 0.92013092507645259,0.07986907492354740 Region score:0.28; TSS score:0.17; Unmatched score:0.03; Average GERP:-0.563557425742574 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001537 26965516 NONHSAT190570.1 rs6061231 C N/A 4,508 east asian ancestry cases//16,588 east asian ancestry controls; 11,044 east asian ancestry cases//18,036 east asian ancestry controls EFO_0005842 N/A Associate Colorectal cancer rs6061231-C of NONHSAT190570.1 is significantly associated with the colorectal cancer by using GWAS analysis in 4,508 east asian ancestry cases//16,588 east asian ancestry controls; 11,044 east asian ancestry cases//18,036 east asian ancestry controls(p-value = 8E-11 ;OR = 1.18). 0.4 Identification of Susceptibility Loci and Genes for Colorectal Cancer Risk. genome-wide association analysis NONHSAT190570.1 lncRNA Colorectal cancer 0.33 CAGATACCTG(C > A)CCAGGCATCC chr20: 62381861 0.7175,0.2825 0.72620412844036697,0.27379587155963302 Region score:0.44; TSS score:0.47; Unmatched score:0.39; Average GERP:-0.8660069306930703 GeneName:AL121832.2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000273619; TranscriptID:ENST00000610979; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001538 26912274 NONHSAT032215.2 rs2440012 C N/A 2,178 han chinese ancestry centenarian cases//2,299 han chinese ancestry middle-age controls EFO_0004300 N/A Associate Longevity rs2440012-C of NONHSAT032215.2 is significantly associated with the longevity by using GWAS analysis in 2,178 han chinese ancestry centenarian cases//2,299 han chinese ancestry middle-age controls(p-value = 4E-8 ;OR = 1.6611296). 0.4 Novel loci and pathways significantly associated with longevity. genome-wide association analysis NONHSAT032215.2 lncRNA Longevity 0.33 ATATGTTGTA(C > A,G)AATATGAATG chr13: 18865983 0.7612,.,0.2388 0.74910008919469928,0.00156090723751274,0.24933900356778797 Region score:0.3; TSS score:0.05; Unmatched score:0.05; Average GERP:-0.1551969999999999 GeneName:ANKRD20A9P; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000206192; TranscriptID:ENST00000457997; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RNU6-55P; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000223024; TranscriptID:ENST00000411092; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001539 27636879 mir-1302-7 chr8:142867668 ATGT/A N/A 899 individuals with CRCs categorized by clinical subtypes and in 204 controls EFO_0005842 N/A increasing risk colorectal cancer chr8:142867668-ATGT/A of hsa-mir-1302-7 and its dysfunction is significantly associated with the increasing risk of Colorectal cancer by using case-control analysis in 899 individuals with CRCs categorized by clinical subtypes and in 204 controls 0.4 Germline miRNA DNA variants and the risk of colorectal cancer by subtype. case-control analysis hsa-mir-1302-7 miRNA Colorectal cancer 0.33 TCCTAAAAAC(ATGT > A)TGTTTAT chr8:142867668 - - - - NCRV0000001540 28468790 NONHSAT218105.1 rs1379134 ? N/A 247 european ancestry trios//70 non-european ancestry trios//192 european and other ancestry trios EFO_0005938 N/A Associate Left ventricular obstructive tract defect (inherited effect) rs1379134-? of NONHSAT218105.1 is significantly associated with the left ventricular obstructive tract defect (inherited effect) by using GWAS analysis in 247 european ancestry trios//70 non-european ancestry trios//192 european and other ancestry trios(p-value = 4E-6 ;OR = 2.6964426). 0.4 Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects. genome-wide association analysis NONHSAT218105.1 lncRNA Congenital left-sided heart lesions 0.33 TCTCTCATAG(T > C)TCTGGGCCCA chr8: 41028059 0.06649,0.9335 0.11518061926605504,0.88481938073394495 Region score:0.43; TSS score:0.35; Unmatched score:0.16; Average GERP:-0.7079376237623761 GeneName:RNU6-356P; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000206867; TranscriptID:ENST00000384140; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001541 29059683 NONHSAT207049.1 rs1233480 T N/A 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls EFO_0000305 N/A Associate Breast cancer rs1233480-T of NONHSAT207049.1 is significantly associated with the breast cancer by using GWAS analysis in 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls(p-value = 5E-8 ;OR = 0.0586). 0.4 Association analysis identifies 65 new breast cancer risk loci. genome-wide association analysis NONHSAT207049.1 lncRNA Breast cancer 0.33 GAGTCAGGTA(C > A,T)GAGGGAAGAG chr6: 29509637 0.9157,.,0.08427 0.87785900866462793,0.00007167431192660,0.12206931702344546 Region score:0.3; TSS score:0.45; Unmatched score:0.43; Average GERP:0.0007128712871287151 GeneName:AL662860.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000229274; TranscriptID:ENST00000436804; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001542 28081866 microRNA-1269a rs73239138 A Dominant Hepatocellular carcinoma EFO_0000182 N/A Increasing risk Hepatocellular carcinoma rs73239138-A of microRNA-1269a and its dysfunction is significantly associated with the increasing risk of hepatocellular carcinoma by using analysis of sequence variation in hepatocellular carcinoma. By using the disease cell lines or tissues, the interference and mutation of microRNA-1269a has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. Moreover, the ncRNA variation-disease association was validated by complex experiments. 1.4 A single nucleotide variant in microRNA-1269a promotes the occurrence and process of hepatocellular carcinoma by targeting to oncogenes SPATS2L and LRP6. analysis of sequence variation; Function; Mechanism hsa-mir-1269a miRNA Hepatocellular cancer 0.632 GGACTGAGCC(G > A)TGCTACTGGC chr4: 66276902 0.6058,0.3942 0.62433900356778797,0.37566099643221202 Region score:0.27; TSS score:0.08; Unmatched score:0.42; Average GERP:-0.37619801980198014 GeneName:MIR1269A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000221563; TranscriptID:ENST00000408636; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001542 26152337 hsa-mir-1269a rs73239138 A N/a 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs73239138-A of hsa-mir-1269a and its dysfunction is not significantly associated with hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors. -0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. case-control analysis hsa-mir-1269a miRNA Hepatocellular cancer 0.632 GGACTGAGCC(G > A)TGCTACTGGC chr4: 66276902 0.6058,0.3942 0.62433900356778797,0.37566099643221202 Region score:0.27; TSS score:0.08; Unmatched score:0.42; Average GERP:-0.37619801980198014 GeneName:MIR1269A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000221563; TranscriptID:ENST00000408636; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001543 24159190 NONHSAT178760.1 rs78192384 A N/A 5110 european ancestry individuals EFO_0005418 N/A Associate Symmetrical dimethylarginine levels rs78192384-A of NONHSAT178760.1 is significantly associated with the symmetrical dimethylarginine levels by using GWAS analysis in 5110 european ancestry individuals(p-value = 7E-6 ;OR = 0.27). 0.4 Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality. genome-wide association analysis NONHSAT178760.1 lncRNA Serum dimethylarginine measurement 0.33 ACCACTGTTC(G > A)CCAGCCATCT chr18: 3041399 0.9311,0.06889 0.95076771151885830,0.04923228848114169 Region score:0.34; TSS score:0.4; Unmatched score:0.23; Average GERP:-0.2510504950495048 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001544 27416945 NONHSAT188982.1 rs6013915 A N/A 16,753 european ancestry individuals; 13,354 european ancestry individuals EFO_0001360 BMI interaction Associate Modified stumvoll insulin sensitivity index (bmi interaction) rs6013915-A of NONHSAT188982.1 is significantly associated with the modified stumvoll insulin sensitivity index (bmi interaction) by using GWAS analysis in 16,753 european ancestry individuals; 13,354 european ancestry individuals(p-value = 2E-9 ;OR = 0.03705). 0.4 Genome-Wide Association Study of the Modified Stumvoll Insulin Sensitivity Index Identifies BCL2 and FAM19A2 as Novel Insulin Sensitivity Loci. genome-wide association analysis NONHSAT188982.1 lncRNA Type ii diabetes mellitus 0.33 GGAAGAGCGC(G > A)TTAACATTCA chr20: 54193838 0.9681,0.03195 0.95918546126401630,0.04081453873598369 Region score:0.27; TSS score:0.28; Unmatched score:0.19; Average GERP:-0.1058254455445544 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000654967; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001545 25378659 NONHSAT154486.1 rs7419134 A N/A 10,129 european ancestry individuals EFO_0006796 N/A Associate Very long-chain saturated fatty acid levels (fatty acid 22:0) rs7419134-A of NONHSAT154486.1 is significantly associated with the very long-chain saturated fatty acid levels (fatty acid 22:0) by using GWAS analysis in 10,129 european ancestry individuals(p-value = 2E-6 ;OR = 4.726). 0.4 Genetic loci associated with circulating levels of very long-chain saturated fatty acids. genome-wide association analysis NONHSAT154486.1 lncRNA Very long-chain saturated fatty acid measurement 0.33 ATCTGAACTC(G > A,C)GCACTCCTTT chr1: 205948083 0.9329,0.06709,. 0.94682562436289500,0.05316641182466870,0.00000796381243628 Region score:0.38; TSS score:0.4; Unmatched score:0.26; Average GERP:-1.7704603960396048 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000384225; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SLC26A9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000174502; TranscriptID:ENST00000367134; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001546 26634245 NONHSAT197679.1 rs140910939 T N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs140910939-T of NONHSAT197679.1 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 2E-7 ;OR = 2.096). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT197679.1 lncRNA Pulmonary function measurement 0.33 TTCCCTGAGG(C > T)GACCTTTCCT chr3: 152886027 N/A 0.99954606269113149,0.00045393730886850 Region score:0.39; TSS score:0.19; Unmatched score:0.04; Average GERP:-0.13369620000000018 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001547 27863252 NONHSAT144904.2 rs4455005 A N/A 166,066 european ancestry individuals EFO_0004309 N/A Associate Platelet count rs4455005-A of NONHSAT144904.2 is significantly associated with the platelet count by using GWAS analysis in 166,066 european ancestry individuals(p-value = 4E-15 ;OR = 0.03022036). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT144904.2 lncRNA Platelet count 0.33 CCCCCAGGTG(G > A)GTCCTCGAGC chr17: 2055242 0.4345,0.5655 0.36988723241590214,0.63011276758409785 N/A GeneName:HIC1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000177374; TranscriptID:ENST00000322941; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR212; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000267195; TranscriptID:ENST00000586026; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000282083; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000547106; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SMG6; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000070366; TranscriptID:ENST00000263073; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001548 28636993 circ-ITCH rs6120663 A N/A 1,600 HCC cases and 1,800 cancer-free controls EFO_0000182 N/A no significance for risk hepatocellular carcinoma rs6120663-A of circ-ITCH and its dysfunction is not significantly associated with Hepatocellular carcinoma by using case-control analysis in 1,600 HCC cases and 1,800 cancer-free controls -0.4 Polymorphisms and expression pattern of circular RNA circ-ITCH contributes to the carcinogenesis of hepatocellular carcinoma. case-control analysis circ-ITCH circRNA Hepatocellular carcinoma -0.33 TGTTGACGCA(C > A)ACTTGTAGCC chr20: 34494101 0.73,0.27 0.67040965851172273,0.32959034148827726 Region score:0.35; TSS score:0.13; Unmatched score:0.07; Average GERP:-0.008519999999999962 GeneName:ITCH; CADD-Score:2; Consquence:intron; GeneID:ENSG00000078747; TranscriptID:ENST00000262650; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000136420; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001549 27623284 NONHSAT130429.2 rs7866783 ? N/A 14 black cases//922 european ancestry cases//25 cases//82 black controls//3,918 european ancestry controls//129 controls EFO_0004190 N/A Associate Glaucoma (primary open-angle) rs7866783-? of NONHSAT130429.2 is significantly associated with the glaucoma (primary open-angle) by using GWAS analysis in 14 black cases//922 european ancestry cases//25 cases//82 black controls//3,918 european ancestry controls//129 controls(p-value = 4E-8 ;OR = 1.34). 0.4 Epistatic Gene-Based Interaction Analyses for Glaucoma in eMERGE and NEIGHBOR Consortium. genome-wide association analysis NONHSAT130429.2 lncRNA Open-angle glaucoma 0.33 GAGACACCAC(A > G)CCCGGCGGAT chr9: 22056360 0.1879,0.8121 0.26994935015290519,0.73005064984709480 Region score:0.16; TSS score:0.06; Unmatched score:0.18; Average GERP:-0.4134201980198021 GeneName:CDKN2B-AS1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000240498; TranscriptID:ENST00000428597; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0005; mirSVR-E:-20.61 | NCRV0000001550 26305897 NONHSAT183033.1 rs6432852 ? N/A 1,564 african american cases//369 african american diabetic controls//1,288 african american non-diabetic controls//538 american indian ancestry cases//319 american indian ancestry diabetic controls//342 european ancestry cases//404 european ancestry diabetic controls//779 mexican ancestry cases//594 mexican ancestry diabetic controls; 950 african american cases//50 african american diabetic controls//1,887 african american non-diabetic controls//471 american indian ancestry cases//340 american indian ancestry diabetic controls//486 american indian ancestry non-diabetic controls//582 european ancestry ancestry cases//205 european ancestry diabetic controls//2,568 european ancestry non-diabetic controls EFO_0000401 N/A Associate Diabetic kidney disease rs6432852-? of NONHSAT183033.1 is significantly associated with the diabetic kidney disease by using GWAS analysis in 1,564 african american cases//369 african american diabetic controls//1,288 african american non-diabetic controls//538 american indian ancestry cases//319 american indian ancestry diabetic controls//342 european ancestry cases//404 european ancestry diabetic controls//779 mexican ancestry cases//594 mexican ancestry diabetic controls; 950 african american cases//50 african american diabetic controls//1,887 african american non-diabetic controls//471 american indian ancestry cases//340 american indian ancestry diabetic controls//486 american indian ancestry non-diabetic controls//582 european ancestry ancestry cases//205 european ancestry diabetic controls//2,568 european ancestry non-diabetic controls(p-value = 5E-6 ;OR = 1.1764705). 0.4 Genome-Wide Association and Trans-ethnic Meta-Analysis for Advanced Diabetic Kidney Disease: Family Investigation of Nephropathy and Diabetes (FIND). genome-wide association analysis NONHSAT183033.1 lncRNA Diabetic nephropathy 0.33 AATCCTTCAC(A > G)GAAAATTTGT chr2: 165898043 0.5515,0.4485 0.55237799439347604,0.44762200560652395 Region score:0.35; TSS score:0.27; Unmatched score:0.16; Average GERP:-0.7334292079207922 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000125729; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TTC21B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000123607; TranscriptID:ENST00000243344; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001551 28355232 NONHSAT113910.2 rs6900057 ? N/A 1,562 european ancestry individuals//538 african american individuals MONDO_0021661 traffic exposure interaction Associate Coronary atherosclerosis (increased number of diseased vessels) (traffic exposure interaction) rs6900057-? of NONHSAT113910.2 is significantly associated with the coronary atherosclerosis (increased number of diseased vessels) (traffic exposure interaction) by using GWAS analysis in 1,562 european ancestry individuals//538 african american individuals(p-value = 7E-6 ;OR = ?). 0.4 A genome-wide trans-ethnic interaction study links the PIGR-FCAMR locus to coronary atherosclerosis via interactions between genetic variants and residential exposure to traffic. genome-wide association analysis NONHSAT113910.2 lncRNA Coronary atherosclerosis 0.33 N/A N/A N/A N/A N/A N/A NCRV0000001552 26973201 miR-30C-1 rs928508 G N/A 575 patients with lung cancer and 608 healthy controls EFO_0001071 N/A no significance for risk lung carcinoma rs928508-G of hsa-mir-30c-1 and its dysfunction is not significantly associated with Lung carcinoma by using case-control analysis in 575 patients with lung cancer and 608 healthy controls -0.4 Association between polymorphisms in pre-miRNA genes and risk of lung cancer in a Chinese non-smoking female population. case-control analysis hsa-mir-30c-1 miRNA Lung carcinoma -0.33 TGATGTTTGG(G > A)TAGCATCTTC chr1: 40757742 0.5503,0.4497 0.50510480377166156,0.49489519622833843 Region score:0.59; TSS score:0.35; Unmatched score:0.68; Average GERP:1.4019742574257428 GeneName:MIR30C1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207962; TranscriptID:ENST00000385227; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR30E; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000198974; TranscriptID:ENST00000362104; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NFYC; CADD-Score:2; Consquence:intron; GeneID:ENSG00000066136; TranscriptID:ENST00000308733; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001553 21345130 mir-196a2 rs11614913 C N/A 212 histologically confirmed patients with urinary bladder cancer and 250 healthy controls EFO_0000292 N/A no significance for risk bladder carcinoma rs11614913-C of hsa-mir-196a-2 and its dysfunction is not significantly associated with Bladder carcinoma by using case-control analysis in 212 histologically confirmed patients with urinary bladder cancer and 250 healthy controls -0.4 Investigative role of pre-microRNAs in bladder cancer patients: a case-control study in North India. case-control analysis hsa-mir-196a-2 miRNA Bladder carcinoma -0.33 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001554 27989323 NONHSAT102043.2 rs115256310 G N/A 7,904 finnish ancestry individuals EFO_0000540 N/A Associate Granulocyte-colony stimulating factor levels rs115256310-G of NONHSAT102043.2 is significantly associated with the granulocyte-colony stimulating factor levels by using GWAS analysis in 7,904 finnish ancestry individuals(p-value = 7E-7 ;OR = 0.6821). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. genome-wide association analysis NONHSAT102043.2 lncRNA Immune system disease 0.33 AATTCAGAAG(A > G)TAGAAGAACA chr5: 72103864 0.9914,0.008586 0.98814984709480122,0.01185015290519877 Region score:0.41; TSS score:0.36; Unmatched score:0.23; Average GERP:0.11263465346534646 GeneName:AC093218.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000285804; TranscriptID:ENST00000649991; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MAP1B; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000131711; TranscriptID:ENST00000296755; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000758425; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001555 21998595 NONHSAT165535.1 rs6563210 A N/A 20,427 african ancestry individuals; up to 16,436 african american individuals EFO_0004339 N/A Associate Height rs6563210-A of NONHSAT165535.1 is significantly associated with the height by using GWAS analysis in 20,427 african ancestry individuals; up to 16,436 african american individuals(p-value = 7E-7 ;OR = 0.039). 0.4 Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry. genome-wide association analysis NONHSAT165535.1 lncRNA Body height 0.33 TGTGGCATAT(A > G)TGGTGATTCT chr13: 35902310 0.6084,0.3916 0.67877962538226299,0.32122037461773700 Region score:0.42; TSS score:0.33; Unmatched score:0.1; Average GERP:-0.4105336633663367 GeneName:DCLK1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000133083; TranscriptID:ENST00000360631; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001556 28270201 NONHSAT069479.2 rs672889 G N/A 19,259 british ancestry individuals from 6863 families. EFO_0000319 N/A Associate Cholesterol//total rs672889-G of NONHSAT069479.2 is significantly associated with the cholesterol//total by using GWAS analysis in 19,259 british ancestry individuals from 6863 families.(p-value = 4E-16 ;OR = 0.1294899). 0.4 Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants. genome-wide association analysis NONHSAT069479.2 lncRNA Cardiovascular disease 0.33 GAATGCCATG(T > G)AAAGCAAGGT chr2: 21096144 0.1761,0.8239 0.19561512487257900,0.80438487512742099 Region score:0.39; TSS score:0.39; Unmatched score:0.13; Average GERP:-0.6483752475247524 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001557 28159929 H19 rs2107425 T N/a Several case-control studies EFO_0000311 N/A No significance for risk Cancer rs2107425-T of H19 and its dysfunction is not significantly associated with cancer by using meta-analysis in several case-control studies. -0.4 The HOTAIR, PRNCR1 and POLR2E polymorphisms are associated with cancer risk: a meta-analysis. meta-analysis H19 lncRNA Cancer 0 GTGCGGCTCC(C > T)ATGAGTGTCC chr11: 1999845 N/A 1 Region score:0.26; TSS score:0.41; Unmatched score:0.34; Average GERP:-1.0068415841584155 GeneName:H19; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000130600; TranscriptID:ENST00000414790; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR675; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284010; TranscriptID:ENST00000390168; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000262400; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000421501; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01972; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000275266; TranscriptID:ENST00000617997; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01973; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000274866; TranscriptID:ENST00000620857; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001557 28404885 H19 rs2107425 T N/A 33,209 participants EFO_0000311 N/A decreasing risk cancer rs2107425-T of H19 and its dysfunction is significantly associated with the decreasing risk of Cancer by using meta-analysis in 33,209 participants 0.4 Significant association between lncRNA H19 polymorphisms and cancer susceptibility: a meta-analysis. meta-analysis H19 lncRNA Cancer 0 GTGCGGCTCC(C > T)ATGAGTGTCC chr11: 1999845 0.5521,0.4479 1 Region score:0.26; TSS score:0.41; Unmatched score:0.34; Average GERP:-1.0068415841584155 GeneName:H19; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000130600; TranscriptID:ENST00000414790; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR675; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284010; TranscriptID:ENST00000390168; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000262400; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000421501; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01972; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000275266; TranscriptID:ENST00000617997; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01973; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000274866; TranscriptID:ENST00000620857; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001558 27863252 NONHSAT211179.1 rs9376098 A N/A 170,223 european ancestry individuals EFO_0007995 N/A Associate Basophil percentage of granulocytes rs9376098-A of NONHSAT211179.1 is significantly associated with the basophil percentage of granulocytes by using GWAS analysis in 170,223 european ancestry individuals(p-value = 3E-12 ;OR = 0.0255682). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT211179.1 lncRNA Basophil percentage of granulocytes 0.33 TTTTTATTTT(T > A)AAAAAAGGTA chr6: 135178322 0.4796,0.5204 0.55258505351681957,0.44741494648318042 Region score:0.35; TSS score:0.54; Unmatched score:0.34; Average GERP:-0.38019801980198026 GeneName:MYB; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000118513; TranscriptID:ENST00000341911; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001559 28498854 NONHSAT215731.1 rs10096908 ? N/A up to 31,155 african individuals; up to 4,187 african individuals//up to 14,016 korean ancestry individuals//up to 23,914 european ancestry individuals//up to 12,278 hispanic individuals EFO_0000537 N/A Associate Blood pressure traits (multi-trait analysis) rs10096908-? of NONHSAT215731.1 is significantly associated with the blood pressure traits (multi-trait analysis) by using GWAS analysis in up to 31,155 african individuals; up to 4,187 african individuals//up to 14,016 korean ancestry individuals//up to 23,914 european ancestry individuals//up to 12,278 hispanic individuals(p-value = 2E-6 ;OR = ?). 0.4 Single-trait and multi-trait genome-wide association analyses identify novel loci for blood pressure in African-ancestry populations. genome-wide association analysis NONHSAT215731.1 lncRNA Hypertension 0.33 GACTTGGTGG(C > T)ATCGCAAGAC chr8: 41784039 0.9032,0.09685 0.90143189347604485,0.09856810652395514 Region score:0.19; TSS score:0.2; Unmatched score:0.14; Average GERP:-0.11250396039603963 GeneName:ANK1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000029534; TranscriptID:ENST00000265709; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001560 26198764 NONHSAT040167.2 rs12432904 G N/A 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls EFO_0000692 N/A Associate Schizophrenia rs12432904-G of NONHSAT040167.2 is significantly associated with the schizophrenia by using GWAS analysis in 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls(p-value = 4E-6 ;OR = 1.0526316). 0.4 Genome-wide association study of schizophrenia in Ashkenazi Jews. genome-wide association analysis NONHSAT040167.2 lncRNA Schizophrenia 0.33 TTGCTCTGTA(G > A,T)CCCAGGCTGG chr14: 103345983 0.596,.,0.404 0.62550172018348623,0.00015927624872579,0.37433900356778797 Region score:0.28; TSS score:0.26; Unmatched score:0.29; Average GERP:0.155 GeneName:EIF5; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000100664; TranscriptID:ENST00000216554; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000508430; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001561 27424800 mir-6833 rs114113397 ? N/A Schizophrenias EFO_0000692 N/A increasing risk schizophrenia rs114113397-? of hsa-mir-6833 and its dysfunction is significantly associated with the increasing risk of Schizophrenia by using genome-wide association analysis in Schizophrenias 0.4 Schizophrenia risk variants affecting microRNA function and site-specific regulation of NT5C2 by miR-206. genome-wide association analysis hsa-mir-6833 miRNA Schizophrenia 0.33 TCGTCGGTTT(T > C)GAGTCTGAAC - - - - GeneName:AGPAT1; CADD_score:1; Consquence:downstream; GeneID:ENSG00000204310; TranscriptID:ENST00000395499; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PPT2; CADD_score:1; Consquence:downstream; GeneID:ENSG00000221988; TranscriptID:ENST00000361568; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR6721; CADD_score:1; Consquence:downstream; GeneID:ENSG00000284469; TranscriptID:ENST00000617181; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD_score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000787829; AnnoType:RegulatoryFeature; mirSVR-Score:NA; mirSVR-E:NA | GeneName:EGFL8; CADD_score:2; Consquence:intronic; GeneID:ENSG00000241404; TranscriptID:ENST00000395512; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PPT2-EGFL8; CADD_score:2; Consquence:intronic; GeneID:ENSG00000258388; TranscriptID:ENST00000422437; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001562 26301688 NONHSAT067101.2 rs602662 G N/A 97 european ancestry thyroiditis cases//107 european ancestry ankylosing spondylitis cases//100 european ancestry psoriasis cases//173 european ancestry celiac disease cases//254 european ancestry systemic lupus erythematosus cases//308 european ancestry common variable inmunodeficiency cases//865 european ancestry ulcerative colitis cases//1,086 european ancestry type 1 diabetes cases//1,123 european ancestry juvenile idiopathic arthritis cases//1,922 european ancestry crohn's disease cases//10,718 european ancestry controls EFO_0000540 N/A Associate Pediatric autoimmune diseases rs602662-G of NONHSAT067101.2 is significantly associated with the pediatric autoimmune diseases by using GWAS analysis in 97 european ancestry thyroiditis cases//107 european ancestry ankylosing spondylitis cases//100 european ancestry psoriasis cases//173 european ancestry celiac disease cases//254 european ancestry systemic lupus erythematosus cases//308 european ancestry common variable inmunodeficiency cases//865 european ancestry ulcerative colitis cases//1,086 european ancestry type 1 diabetes cases//1,123 european ancestry juvenile idiopathic arthritis cases//1,922 european ancestry crohn's disease cases//10,718 european ancestry controls(p-value = 5E-8 ;OR = ?). 0.4 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases. genome-wide association analysis NONHSAT067101.2 lncRNA Immune system disease 0.33 CACCTCCCAC(G > A)GTGATGTGGT chr19: 48703728 0.6711,0.3289 0.54467698776758409,0.45532301223241590 Region score:0.31; TSS score:0.28; Unmatched score:0.38; Average GERP:1.4771663366336634 GeneName:FUT2; CADD-Score:7; Consquence:missense; GeneID:ENSG00000176920; TranscriptID:ENST00000425340; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001563 27197191 NONHSAT053287.2 rs12601991 T N/A 5,020 european ancestry lung cancer cases//3,718 european ancestry lung adenocarcinoma cases//3,422 european ancestry lung squamous cell carcinoma cases//15,414 european ancestry colorectal cancer cases//10,809 european ancestry breast cancer cases//4,939 european ancestry estrogen receptor negative breast cancer cases//1,098 european ancestry ovarian cancer cases//2,556 european ancestry serous ovarian cancer cases//715 european ancestry ovarian endometrioid carcinoma cases//9,710 european ancestry prostate cancer cases//4,450 european ancestry aggressive prostate cancer cases// 61,820 european ancestry controls EFO_0000311 N/A Associate Cancer rs12601991-T of NONHSAT053287.2 is significantly associated with the cancer by using GWAS analysis in 5,020 european ancestry lung cancer cases//3,718 european ancestry lung adenocarcinoma cases//3,422 european ancestry lung squamous cell carcinoma cases//15,414 european ancestry colorectal cancer cases//10,809 european ancestry breast cancer cases//4,939 european ancestry estrogen receptor negative breast cancer cases//1,098 european ancestry ovarian cancer cases//2,556 european ancestry serous ovarian cancer cases//715 european ancestry ovarian endometrioid carcinoma cases//9,710 european ancestry prostate cancer cases//4,450 european ancestry aggressive prostate cancer cases// 61,820 european ancestry controls(p-value = 1E-9 ;OR = 1.1). 0.4 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations. genome-wide association analysis NONHSAT053287.2 lncRNA Cancer 0.33 CGAACAAGAC(T > A,G)CCTCGAACCT chr17: 37741642 0.6348,.,0.3652 0.32063901630988786,0.00321738022426095,0.67614360346585117 Region score:0.24; TSS score:0.38; Unmatched score:0.42; Average GERP:0.7479838910891089 GeneName:HNF1B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000275410; TranscriptID:ENST00000617811; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000093699; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001564 27863252 NONHSAT204572.1 rs79881201 T N/A 171,771 european ancestry individuals EFO_0009389 N/A Associate Sum eosinophil basophil counts rs79881201-T of NONHSAT204572.1 is significantly associated with the sum eosinophil basophil counts by using GWAS analysis in 171,771 european ancestry individuals(p-value = 1E-22 ;OR = 0.03636485). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT204572.1 lncRNA Sum of eosinophil and basophil counts 0.33 ATCTCCAAGG(C > T)GTCGACCTCC chr5: 111092097 0.847,0.153 0.73973464576962283,0.26026535423037716 Region score:0.52; TSS score:0.3; Unmatched score:0.9; Average GERP:-2.0893029702970307 GeneName:AC008572.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253613; TranscriptID:ENST00000507269; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000185177; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000765549; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:WDR36; CADD-Score:3; Consquence:5_prime_UTR; GeneID:ENSG00000134987; TranscriptID:ENST00000506538; AnnoType:5PRIME_UTR; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001565 24483146 NONHSAT124878.2 rs4272382 ? N/A 60 european ancestry lymphoblastoid cell lines//54 african american lymphoblastoid cell lines//60 han chinese ancestry lymphoblastoid cell lines GO_0036272 N/A Associate Response to cytidine analogues (gemcitabine) rs4272382-? of NONHSAT124878.2 is significantly associated with the response to cytidine analogues (gemcitabine) by using GWAS analysis in 60 european ancestry lymphoblastoid cell lines//54 african american lymphoblastoid cell lines//60 han chinese ancestry lymphoblastoid cell lines(p-value = 2E-6 ;OR = ?). 0.4 Discovery of genetic biomarkers contributing to variation in drug response of cytidine analogues using human lymphoblastoid cell lines. genome-wide association analysis NONHSAT124878.2 lncRNA Response to gemcitabine 0.33 TATGGATTTC(G > A)TCACACTACA chr8: 8575978 0.877,0.123 0.92693202089704383,0.07306797910295616 Region score:0.24; TSS score:0.28; Unmatched score:0.21; Average GERP:-0.47980396039603956 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001566 27863252 NONHSAT056215.2 rs11650665 G N/A 170,548 european ancestry individuals EFO_0007986 N/A Associate Immature fraction of reticulocytes rs11650665-G of NONHSAT056215.2 is significantly associated with the immature fraction of reticulocytes by using GWAS analysis in 170,548 european ancestry individuals(p-value = 1E-17 ;OR = 0.03318629). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT056215.2 lncRNA Reticulocyte count 0.33 GACAGGGAAG(T > G)CTCAGGAGTT chr17: 78263766 0.8812,0.1188 0.79730504587155963,0.20269495412844036 Region score:0.5; TSS score:0.78; Unmatched score:0.76; Average GERP:-0.5156470297029704 GeneName:LINC01993; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000204277; TranscriptID:ENST00000374945; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001567 26034056 NONHSAT053287.2 rs11263763 A N/A 6,406 european ancestry cases//601 african american cases//288 east asian ancestry cases//488 latino cases30,866 european ancestry controls//1,650 african american controls//2,938 east asian ancestry controls//3,141 latino controls; 4,599 european ancestry cases//2,265 african american cases//2,940 european ancestry controls//2,414 african american controls EFO_0001663 N/A Associate Prostate cancer rs11263763-A of NONHSAT053287.2 is significantly associated with the prostate cancer by using GWAS analysis in 6,406 european ancestry cases//601 african american cases//288 east asian ancestry cases//488 latino cases30,866 european ancestry controls//1,650 african american controls//2,938 east asian ancestry controls//3,141 latino controls; 4,599 european ancestry cases//2,265 african american cases//2,940 european ancestry controls//2,414 african american controls(p-value = 5E-24 ;OR = 1.22). 0.4 A large multiethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences. genome-wide association analysis NONHSAT053287.2 lncRNA Prostate cancer 0.33 CCGAAATCGC(A > G)GCGCTTCAGT chr17: 37743574 0.3552,0.6448 0.56869584607543323,0.43130415392456676 Region score:0.44; TSS score:0.62; Unmatched score:0.86; Average GERP:-1.1021396039603955 GeneName:HNF1B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000275410; TranscriptID:ENST00000617811; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000093699; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001568 27117709 NONHSAT211293.1 rs11155804 ? N/A 4,939 european ancestry estrogen receptor-negative cases//14,352 european ancestry controls; 7,333 european ancestry estrogen receptor-negative cases//7,797 european ancestry brca1 mutation carrier cases//7,455 european ancestry brca1 mutation carrier controls//42,468 european ancestry controls EFO_0000305 N/A Associate Breast cancer rs11155804-? of NONHSAT211293.1 is significantly associated with the breast cancer by using GWAS analysis in 4,939 european ancestry estrogen receptor-negative cases//14,352 european ancestry controls; 7,333 european ancestry estrogen receptor-negative cases//7,797 european ancestry brca1 mutation carrier cases//7,455 european ancestry brca1 mutation carrier controls//42,468 european ancestry controls(p-value = 4E-28 ;OR = 1.15). 0.4 Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer. genome-wide association analysis NONHSAT211293.1 lncRNA Breast cancer 0.33 AAAGAAAGAG(T > A)GAGAGAAAGA chr6: 151625017 0.6591,0.3409 0.64162844036697247,0.35837155963302752 Region score:0.35; TSS score:0.29; Unmatched score:0.08; Average GERP:-0.3533350515463919 GeneName:CCDC170; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000120262; TranscriptID:ENST00000239374; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001569 27863252 NONHSAT015107.2 rs116052829 T N/A 166,066 european ancestry individuals EFO_0004309 N/A Associate Platelet count rs116052829-T of NONHSAT015107.2 is significantly associated with the platelet count by using GWAS analysis in 166,066 european ancestry individuals(p-value = 3E-10 ;OR = 0.03758511). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT015107.2 lncRNA Platelet count 0.33 CCTTAGCAAA(C > T)CACACGGATC chr10: 79404390 0.9417,0.05831 0.92390577217125382,0.07609422782874617 Region score:0.3; TSS score:0.5; Unmatched score:0.42; Average GERP:1.3313465346534654 GeneName:AL133481.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000235426; TranscriptID:ENST00000438554; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ZCCHC24; CADD-Score:2; Consquence:intron; GeneID:ENSG00000165424; TranscriptID:ENST00000372336; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001570 25387706 NONHSAT154130.1 rs3007711 ? N/A up to 4,424 european ancestry twins and their parents EFO_0000677 N/A Associate Electrodermal activity rs3007711-? of NONHSAT154130.1 is significantly associated with the electrodermal activity by using GWAS analysis in up to 4,424 european ancestry twins and their parents(p-value = 9E-6 ;OR = 0.051). 0.4 Heritability and molecular genetic basis of electrodermal activity: a genome-wide association study. genome-wide association analysis NONHSAT154130.1 lncRNA Mental or behavioural disorder 0.33 GGTAGCCAGG(G > T)ACATTGGCAG chr1: 151924901 0.384,0.616 0.36482224770642201,0.63517775229357798 Region score:0.36; TSS score:0.47; Unmatched score:0.24; Average GERP:0.16041584158415811 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000372779; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001571 27863252 NONHSAT198101.1 rs7617390 C N/A 172,332 european ancestry individuals EFO_0004527 N/A Associate Mean corpuscular hemoglobin rs7617390-C of NONHSAT198101.1 is significantly associated with the mean corpuscular hemoglobin by using GWAS analysis in 172,332 european ancestry individuals(p-value = 3E-40 ;OR = 0.06391008). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT198101.1 lncRNA Mean corpuscular hemoglobin 0.33 AGCAGGGGAG(G > C)CCCCCCCCAG chr3: 196128111 0.2448,0.1364 0.84469769367991845,0.15530230632008154 Region score:0.29; TSS score:0.47; Unmatched score:0.4; Average GERP:-0.7706277227722773 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000713908; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001572 28545128 NONHSAT018944.2 rs10742682 T N/A 2,101 european ancestry child cases//4,202 european ancestry controls; 365 african american child cases//2,491 african american controls//427 european ancestry cases//783 european ancestry controls//371 cases//1,122 controls EFO_0000621 N/A Associate Sporadic neuroblastoma rs10742682-T of NONHSAT018944.2 is significantly associated with the sporadic neuroblastoma by using GWAS analysis in 2,101 european ancestry child cases//4,202 european ancestry controls; 365 african american child cases//2,491 african american controls//427 european ancestry cases//783 european ancestry controls//371 cases//1,122 controls(p-value = 1E-7 ;OR = 1.24). 0.4 Common variants upstream of MLF1 at 3q25 and within CPZ at 4p16 associated with neuroblastoma. genome-wide association analysis NONHSAT018944.2 lncRNA Neuroblastoma 0.33 GTTTGGGGGG(C > T)TGTCGGTCCC chr11: 43644307 0.5579,0.4421 0.60379236748216106,0.39620763251783893 Region score:0.45; TSS score:0.4; Unmatched score:0.91; Average GERP:-0.15603564356435626 GeneName:AC068205.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000283217; TranscriptID:ENST00000526615; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC068205.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000283341; TranscriptID:ENST00000636894; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000039195; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001573 27027436 H19 rs2839698 A dominant 1,147 patients with colorectal cancer and 1,203 cancer-free controls. in a Chinese population. EFO_0005842 N/A increasing risk colorectal cancer rs2839698-A of H19 and its dysfunction is significantly associated with the increasing risk of Colorectal cancer by using case-control analysis in 1,147 patients with colorectal cancer and 1,203 cancer-free controls. in a Chinese population. 0.4 Association of genetic variants in lncRNA H19 with risk of colorectal cancer in a Chinese population. case-control analysis H19 lncRNA Colorectal cancer 0.33 ATGCCTGGGC(G > A)CCTACTCCAC chr11: 1997623 0.7071,0.2929 1 Region score:0.36; TSS score:0.46; Unmatched score:0.85; Average GERP:-0.6805287128712875 GeneName:H19; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000130600; TranscriptID:ENST00000414790; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LINC01219; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000232987; TranscriptID:ENST00000418612; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR675; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284010; TranscriptID:ENST00000390168; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000035875; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01972; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000275266; TranscriptID:ENST00000617997; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01973; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000274866; TranscriptID:ENST00000620857; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001574 20549817 mir-146a rs2910164 C N/A 1109 patients with SCCHN (cases) and in 1130 cancer-free patients (controls) EFO_0000181 N/A no significance for risk head and neck squamous cell carcinoma rs2910164-C of hsa-mir-146a and its dysfunction is not significantly associated with Head and neck squamous cell carcinoma by using case-control analysis in 1109 patients with SCCHN (cases) and in 1130 cancer-free patients (controls) -0.4 Genetic variants in selected pre-microRNA genes and the risk of squamous cell carcinoma of the head and neck. case-control analysis hsa-mir-146a miRNA Head and neck squamous cell carcinoma -0.181 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 0 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001574 29049342 miRNA-146a rs2910164 C N/A several case-control studies EFO_0000181 N/A increasing risk head and neck squamous cell carcinoma rs2910164-C of hsa-mir-146a and its dysfunction is significantly associated with the increasing risk of Head and neck squamous cell carcinoma by using meta-analysis in several case-control studies 0.4 Association between a miRNA-146a polymorphism and susceptibility to head and neck squamous cell carcinoma in Chinese patients: A meta-analysis of 8 case-control studies. meta-analysis hsa-mir-146a miRNA Head and neck squamous cell carcinoma -0.181 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 0 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001574 27050146 mir-146a rs2910164 G N/a 996 patients with newly diagnosed, previously untreated, histopathologically confirmed index sccnop EFO_0000181 N/A No significance for risk Squamous cell carcinomas of the nonoropharynx rs2910164-G of mir-146a and its dysfunction is not significantly associated with squamous cell carcinomas of the nonoropharynx by using case-control analysis in 996 patients with newly diagnosed, previously untreated, histopathologically confirmed index SCCNOP. -0.4 Pre-miRNA variants as predictors of clinical outcome in patients with squamous cell carcinomas of the nonoropharynx. case-control analysis hsa-mir-146a miRNA Head and neck squamous cell cancer -0.181 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 N/A 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001575 29228715 NONHSAT159789.1 rs7927484 ? N/A 855 austrian ancestry colonoscopy-negative controls//3,439 european ancestry controls NCIT_C16450 N/A Associate Colonoscopy-negative controls vs population controls rs7927484-? of NONHSAT159789.1 is significantly associated with the colonoscopy-negative controls vs population controls by using GWAS analysis in 855 austrian ancestry colonoscopy-negative controls//3,439 european ancestry controls(p-value = 3E-6 ;OR = 1.468). 0.4 Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas. genome-wide association analysis NONHSAT159789.1 lncRNA Colonoscopy 0.33 ATCAAAGCCT(T > C)GATAGTTGCT chr11: 123268252 0.7272,0.2728 0.71699796126401630,0.28300203873598369 Region score:0.48; TSS score:0.33; Unmatched score:0.17; Average GERP:-0.9490950495049505 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000445196; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001576 26953487 H2A/K rs61747867 T Dominant 10 kidney cancer patients EFO_0002890 N/A Increasing risk Kidney cancer rs61747867 -T of H2A/K and its dysfunction is significantly associated with the increasing risk of kidney cancer by using analysis of sequence variation in 10 kidney cancer patients . By using the disease cell lines or tissues, the interference and mutation of H2A/K has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 H2A/K pseudogene mutation may promote cell proliferation. analysis of sequence variation; Function H2A/K lncRNA Renal cancer 0.593 GCGTCGGGGG(G > A,C,T)TGACGCGGGT chr6: 26272320 0.8878,.,.,0.1122 0.85471616972477064,.,0.00001592762487257,0.14526790265035677 Region score:0.54; TSS score:0.69; Unmatched score:0.88; Average GERP:3.0230792079207913 GeneName:HIST1H2APS4; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000218690; TranscriptID:ENST00000362070; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HIST1H2BI; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000278588; TranscriptID:ENST00000377733; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HIST1H3G; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000273983; TranscriptID:ENST00000614378; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000195013; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001577 26829030 NONHSAT023550.2 rs1126809 A N/A 6,891 european ancestry cases//54,566 european ancestry controls; 810 european ancestry cases// 5,600 european ancestry controls EFO_0000707 N/A Associate Squamous cell carcinoma rs1126809-A of NONHSAT023550.2 is significantly associated with the squamous cell carcinoma by using GWAS analysis in 6,891 european ancestry cases//54,566 european ancestry controls; 810 european ancestry cases// 5,600 european ancestry controls(p-value = 2E-20 ;OR = 1.19). 0.4 Identification of Susceptibility Loci for Cutaneous Squamous Cell Carcinoma. genome-wide association analysis NONHSAT023550.2 lncRNA Squamous cell cancer 0.33 CAGTGGCTCC(G > A)AAGGCACCGT chr11: 89284793 0.9187,0.08127 0.82370508409785932,0.17629491590214067 Region score:0.27; TSS score:0.31; Unmatched score:0.54; Average GERP:2.4450792079207937 GeneName:TYR; CADD-Score:7; Consquence:missense; GeneID:ENSG00000077498; TranscriptID:ENST00000263321; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001578 27863252 NONHSAT189066.1 rs259981 A N/A 171,748 european ancestry individuals EFO_0007993 N/A Associate Lymphocyte percentage of white cells rs259981-A of NONHSAT189066.1 is significantly associated with the lymphocyte percentage of white cells by using GWAS analysis in 171,748 european ancestry individuals(p-value = 1E-9 ;OR = 0.02282645). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT189066.1 lncRNA Lymphocyte percentage of leukocytes 0.33 GCACCATTAA(T > A)TTTTTTGTTT chr20: 59173314 0.4445,0.5555 0.49935493119266055,0.50064506880733944 Region score:0.33; TSS score:0.33; Unmatched score:0.08; Average GERP:-0.022690099009900967 GeneName:ZNF831; CADD-Score:2; Consquence:intron; GeneID:ENSG00000124203; TranscriptID:ENST00000637017; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001579 20889312 NONHSAT169903.1 rs915071 ? N/A 651 european ancestry bipolar cases//1,171 european ancestry schizophrenia cases//2,412 european ancestry controls EFO_0000677 N/A Associate Bipolar disorder and schizophrenia rs915071-? of NONHSAT169903.1 is significantly associated with the bipolar disorder and schizophrenia by using GWAS analysis in 651 european ancestry bipolar cases//1,171 european ancestry schizophrenia cases//2,412 european ancestry controls(p-value = 2E-6 ;OR = 1.2346). 0.4 A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder. genome-wide association analysis NONHSAT169903.1 lncRNA Mental or behavioural disorder 0.33 CTTCTGTATT(C > T)ATCATAGACA chr14: 31964652 0.3974,0.6026 0.44901567278287461,0.55098432721712538 Region score:0.21; TSS score:0.25; Unmatched score:0.1; Average GERP:0.08403960396039595 GeneName:AL352984.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000275002; TranscriptID:ENST00000611153; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001580 28203683 NONHSAT221592.1 rs113048739 A N/A 393 african american cases//4,941 african american controls.; nr EFO_0004286 N/A Associate Venous thromboembolism adjusted for sickle cell variant rs77121243-t rs113048739-A of NONHSAT221592.1 is significantly associated with the venous thromboembolism adjusted for sickle cell variant rs77121243-t by using GWAS analysis in 393 african american cases//4,941 african american controls.; nr(p-value = 3E-6 ;OR = 3.532). 0.4 Identification of unique venous thromboembolism-susceptibility variants in African-Americans. genome-wide association analysis NONHSAT221592.1 lncRNA Venous thromboembolism 0.33 TTGGCAATAT(G > A)ATCTTTGCAA chr9: 11023588 0.9924,0.007588 0.99504650866462793,0.00495349133537206 Region score:0.32; TSS score:0.07; Unmatched score:0; Average GERP:-0.2608556435643565 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000875556; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001581 27863252 NONHSAT145107.2 rs9913156 T N/A 171,643 european ancestry individuals EFO_0004587 N/A Associate Lymphocyte counts rs9913156-T of NONHSAT145107.2 is significantly associated with the lymphocyte counts by using GWAS analysis in 171,643 european ancestry individuals(p-value = 4E-15 ;OR = 0.03284058). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT145107.2 lncRNA Lymphocyte count 0.33 CCAGGGTAAA(C > G,T)ATCAAAACTT chr17: 4721671 0.2047,.,0.7953 0.22635544087665647,0.04669183231396534,0.72695272680937818 Region score:0.54; TSS score:0.62; Unmatched score:0.68; Average GERP:0.13566039603960403 GeneName:ARRB2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000141480; TranscriptID:ENST00000412477; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000090526; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001582 27182965 NONHSAT210492.1 rs227833 ? N/A 69,284 european ancestry individuals EFO_0007906 N/A Associate Monobrow rs227833-? of NONHSAT210492.1 is significantly associated with the monobrow by using GWAS analysis in 69,284 european ancestry individuals(p-value = 6E-16 ;OR = 0.033). 0.4 Detection and interpretation of shared genetic influences on 42 human traits. genome-wide association analysis NONHSAT210492.1 lncRNA Synophrys measurement 0.33 ATTACCTAAT(G > C)ACCTCCCAAA chr6: 44714103 0.748,0.252 0.75606842507645259,0.24393157492354740 Region score:0.28; TSS score:0.1; Unmatched score:0.09; Average GERP:-0.4415221782178215 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001583 28448500 NONHSAT027401.2 rs1872992 G N/A 2,518 african american women//83,707 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//52,993 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men EFO_0007788 N/A Associate Waist-to-hip ratio adjusted for body mass index rs1872992-G of NONHSAT027401.2 is significantly associated with the waist-to-hip ratio adjusted for body mass index by using GWAS analysis in 2,518 african american women//83,707 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//52,993 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men(p-value = 3E-17 ;OR = 0.0489). 0.4 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. genome-wide association analysis NONHSAT027401.2 lncRNA Bmi-adjusted waist-hip ratio 0.33 TCTGTCCAAC(A > G)TAACAGGGTT chr12: 26304257 0.646,0.354 0.71373279816513761,0.28626720183486238 Region score:0.42; TSS score:0.27; Unmatched score:0.1; Average GERP:-0.2540962376237623 GeneName:AC022509.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000255750; TranscriptID:ENST00000540625; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC022509.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000256234; TranscriptID:ENST00000540392; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SSPN; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000123096; TranscriptID:ENST00000534829; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001584 27741504 miR-26a1 rs7372209 T N/a 218 endometriosis patients and 202 healthy women age-matched controls EFO_0001065 N/A Increasing risk Endometriosis rs7372209-T of miR-26a1 and its dysfunction is significantly associated with the increasing risk of endometriosis by using case-control analysis in 218 endometriosis patients and 202 healthy women age-matched controls. 0.4 Up-regulation of ribosome biogenesis by MIR196A2 genetic variation promotes endometriosis development and progression. case-control analysis hsa-mir-26a-1 miRNA Endometriosis 0.33 ATTAATCCTT(T > C)GTACCACGTG chr3: 37969217 0.2015,0.7985 0.21918800968399592,0.78081199031600407 Region score:0.25; TSS score:0.19; Unmatched score:0.58; Average GERP:0.42166831683168315 GeneName:CTDSPL; CADD-Score:2; Consquence:intron; GeneID:ENSG00000144677; TranscriptID:ENST00000273179; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR26A1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000199075; TranscriptID:ENST00000362205; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000682913; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001585 27863252 NONHSAT000496.2 rs2072732 C N/A 164,339 european ancestry individuals EFO_0007985 N/A Associate Plateletcrit rs2072732-C of NONHSAT000496.2 is significantly associated with the plateletcrit by using GWAS analysis in 164,339 european ancestry individuals(p-value = 1E-14 ;OR = 0.03619666). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT000496.2 lncRNA Plateletcrit 0.33 TCCCGGAATG(T > C)GGCCGCCGGG chr1: 3063713 0.6869,0.3131 0.70150038226299694,0.29849961773700305 Region score:0.42; TSS score:0.62; Unmatched score:0.96; Average GERP:-0.5078035643564354 GeneName:LINC00982; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000177133; TranscriptID:ENST00000445317; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001586 23382691 NONHSAT124614.2 rs17666538 C N/A 2,247 european ancestry individuals EFO_0002690 N/A Associate Igg glycosylation rs17666538-C of NONHSAT124614.2 is significantly associated with the igg glycosylation by using GWAS analysis in 2,247 european ancestry individuals(p-value = 7E-6 ;OR = 0.2848). 0.4 Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. genome-wide association analysis NONHSAT124614.2 lncRNA Systemic lupus erythematosus 0.33 ACCTGAAAAG(T > C)GTAGTCACAT chr8: 616207 0.9551,0.04493 0.94616462793068297,0.05383537206931702 Region score:0.32; TSS score:0.68; Unmatched score:0.69; Average GERP:-0.6806461386138616 GeneName:ERICH1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000104714; TranscriptID:ENST00000522706; AnnoType:INTRONIC; mirSVR-Score:-0.6026; mirSVR-E:-11.24 | NCRV0000001587 28540026 NONHSAT208980.1 rs1131275 C N/A schizophrenia cases and controls (see ripke//2014)cases//up to 1,190 controls EFO_0000692 N/A Associate Schizophrenia rs1131275-C of NONHSAT208980.1 is significantly associated with the schizophrenia by using GWAS analysis in schizophrenia cases and controls (see ripke//2014)cases//up to 1,190 controls(p-value = 2E-9 ;OR = 1.07). 0.4 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. genome-wide association analysis NONHSAT208980.1 lncRNA Schizophrenia 0.33 GCTCCAGCTT(G > C)TCCTTCCCGT chr6: 31356183 0.1977,0.8023 0.30339736238532110,0.69660263761467889 Region score:0.23; TSS score:0.33; Unmatched score:0.73; Average GERP:0.24476237623762379 GeneName:AL671883.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000271581; TranscriptID:ENST00000603274; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HLA-B; CADD-Score:7; Consquence:missense; GeneID:ENSG00000234745; TranscriptID:ENST00000412585; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR6891; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277402; TranscriptID:ENST00000618788; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000195527; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000787550; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001588 19734545 NONHSAT183075.1 rs4668356 ? N/A up to 1,295 individuals EFO_0003926 N/A Associate Cognitive performance rs4668356-? of NONHSAT183075.1 is significantly associated with the cognitive performance by using GWAS analysis in up to 1,295 individuals(p-value = 1E-6 ;OR = ?). 0.4 A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB. genome-wide association analysis NONHSAT183075.1 lncRNA Neuropsychological test 0.33 ACGCACCCTC(C > G,T)GACCCTGCCA chr2: 170965956 N/A 0.15234773190621814,0.02440112130479102,0.82325114678899082 Region score:0.37; TSS score:0.63; Unmatched score:0.71; Average GERP:1.74429306930693 GeneName:GORASP2; CADD-Score:5; Consquence:synonymous; GeneID:ENSG00000115806; TranscriptID:ENST00000234160; AnnoType:SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000627814; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001589 27863252 NONHSAT211179.1 rs9376098 A N/A 171,846 european ancestry individuals EFO_0005090 N/A Associate White blood cell count (basophil) rs9376098-A of NONHSAT211179.1 is significantly associated with the white blood cell count (basophil) by using GWAS analysis in 171,846 european ancestry individuals(p-value = 6E-9 ;OR = 0.021378). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT211179.1 lncRNA Basophil count 0.33 TTTTTATTTT(T > A)AAAAAAGGTA chr6: 135178322 0.4796,0.5204 0.55258505351681957,0.44741494648318042 Region score:0.35; TSS score:0.54; Unmatched score:0.34; Average GERP:-0.38019801980198026 GeneName:MYB; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000118513; TranscriptID:ENST00000341911; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001590 23166209 NONHSAT205214.1 rs6873793 C N/A 13,105 african american individuals EFO_0004278 N/A Associate Qt interval rs6873793-C of NONHSAT205214.1 is significantly associated with the qt interval by using GWAS analysis in 13,105 african american individuals(p-value = 1E-6 ;OR = 1.47). 0.4 Impact of ancestry and common genetic variants on QT interval in African Americans. genome-wide association analysis NONHSAT205214.1 lncRNA Sudden cardiac arrest 0.33 GCCCAGCCCC(C > T)TAATGGGTTT chr5: 3092078 0.5056,0.4944 0.44536028287461773,0.55463971712538226 Region score:0.26; TSS score:0.19; Unmatched score:0.05; Average GERP:0.010358514851485173 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001591 22430032 miR-124 rs531564 G N/A 89 sporadic Mongolia AD patients and 92 unrelated Mongolia healthy controls EFO_0000249 N/A no significance for risk Alzheimer's disease rs531564-G of hsa-mir-124-1 and its dysfunction is not significantly associated with Alzheimers disease by using case-control analysis in 89 sporadic Mongolia AD patients and 92 unrelated Mongolia healthy controls -0.4 A SNP site in pri-miR-124 changes mature miR-124 expression but no contribution to Alzheimer's disease in a Mongolian population. case-control analysis hsa-mir-124-1 miRNA Alzheimers disease -0.33 CCCTGAGTCT(G > C)TTTGCATCTC chr8: 9903189 0.87,0.13 0.86338079765545361,0.13661920234454638 Region score:0.48; TSS score:0.58; Unmatched score:0.92; Average GERP:0.641257425742574 GeneName:LINC00599; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253230; TranscriptID:ENST00000517675; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR124-1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000284321; TranscriptID:ENST00000385275; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000847381; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001592 28928442 NONHSAT222700.1 rs3200611 ? N/A 2,442 european ancestry cases//217,137 european ancestry controls EFO_0008415 N/A Associate Hepatitis a rs3200611-? of NONHSAT222700.1 is significantly associated with the hepatitis a by using GWAS analysis in 2,442 european ancestry cases//217,137 european ancestry controls(p-value = 9E-6 ;OR = 0.2987). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. genome-wide association analysis NONHSAT222700.1 lncRNA Susceptibility to hepatitis a infection measurement 0.33 CTAAGATCGC(G > A)CCACTGTACT chrX: 48578038 0.9783,0.02172 0.94616462793068297,0.05383537206931702 Region score:0.4; TSS score:0.56; Unmatched score:0.7; Average GERP:-0.21733564356435642 GeneName:AC115618.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000204620; TranscriptID:ENST00000376775; AnnoType:UPSTREAM; mirSVR-Score:-0.0041; mirSVR-E:-14.34 | GeneName:AC115618.2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000228343; TranscriptID:ENST00000453810; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0041; mirSVR-E:-14.34 | GeneName:AC115618.3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000279528; TranscriptID:ENST00000623114; AnnoType:UPSTREAM; mirSVR-Score:-0.0041; mirSVR-E:-14.34 | GeneName:RBM3; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000102317; TranscriptID:ENST00000376759; AnnoType:3PRIME_UTR; mirSVR-Score:-0.0041; mirSVR-E:-14.34 | NCRV0000001593 28394258 NONHSAT054304.2 rs10514928 T N/A 30,201 european ancestry individuals EFO_0003777 N/A Associate Left atrial antero-posterior diameter rs10514928-T of NONHSAT054304.2 is significantly associated with the left atrial antero-posterior diameter by using GWAS analysis in 30,201 european ancestry individuals(p-value = 2E-6 ;OR = 0.0397). 0.4 Large-scale genome-wide analysis identifies genetic variants associated with cardiac structure and function. genome-wide association analysis NONHSAT054304.2 lncRNA Heart disease 0.33 AAACTGAAGA(T > C)GGACTCTATT chr17: 47426173 0.9267,0.07328 0.93919629204892966,0.06080370795107033 Region score:0.41; TSS score:0.23; Unmatched score:0.27; Average GERP:0 GeneName:AC040934.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000253347; TranscriptID:ENST00000523101; AnnoType:UPSTREAM; mirSVR-Score:-0.0076; mirSVR-E:-15.47 | GeneName:EFCAB13; CADD-Score:2; Consquence:intron; GeneID:ENSG00000178852; TranscriptID:ENST00000331493; AnnoType:INTRONIC; mirSVR-Score:-0.0076; mirSVR-E:-15.47 | NCRV0000001594 19851984 miR-423 rs6505162 C N/a 138 opl patients and 136 matched controls EFO_0006566 N/A No significance for risk Oral premalignant lesions rs6505162-C of miR-423 and its dysfunction is not significantly associated with oral premalignant lesions by using case-control analysis in 138 OPL patients and 136 matched controls. -0.4 Genetic variation in MicroRNA genes and risk of oral premalignant lesions. case-control analysis hsa-mir-423 miRNA Dysplastic oral keratinocyte -0.33 TTGCTTCCTA(A > C,T)CCCGCGCTTG chr17: 30117165 0.5022,0.4978,. 0.57055937818552497,0.42940876656472986,0.00003185524974515 Region score:0.43; TSS score:0.32; Unmatched score:0.93; Average GERP:3.269841584158416 GeneName:AC104984.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000265394; TranscriptID:ENST00000582938; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC104984.5; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000266919; TranscriptID:ENST00000586878; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3184; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284399; TranscriptID:ENST00000637796; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR423; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000283935; TranscriptID:ENST00000362201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000092957; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NSRP1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000126653; TranscriptID:ENST00000247026; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001595 25429064 NONHSAT218901.1 rs2062078 T N/A 36,227 east asian ancestry individuals; 57,699 east asian ancestry individuals EFO_0004339 N/A Associate Height rs2062078-T of NONHSAT218901.1 is significantly associated with the height by using GWAS analysis in 36,227 east asian ancestry individuals; 57,699 east asian ancestry individuals(p-value = 1E-13 ;OR = 0.032). 0.4 Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. genome-wide association analysis NONHSAT218901.1 lncRNA Body height 0.33 GAAGCCCTAC(G > A,T)GTGCTCGGGG chr8: 129722215 0.4677,.,0.5323 0.60922368756371049,0.00009556574923547,0.39068074668705402 Region score:0.36; TSS score:0.47; Unmatched score:0.19; Average GERP:-0.2970665346534654 GeneName:AC103718.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000285108; TranscriptID:ENST00000646849; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001596 19801982 NONHSAT195634.1 rs87938 A N/A 19,195 european ancestry individuals EFO_0007702 N/A Associate Bone mineral density (hip) rs87938-A of NONHSAT195634.1 is significantly associated with the bone mineral density (hip) by using GWAS analysis in 19,195 european ancestry individuals(p-value = 8E-10 ;OR = 0.07). 0.4 Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies. genome-wide association analysis NONHSAT195634.1 lncRNA Hip bone mineral density 0.33 ATAGATCAAA(A > G,T)TTAGTGCATG chr3: 41096181 0.4683,0.5317,. 0.40312022171253822,0.59682403160040774,0.00005574668705402 Region score:0.4; TSS score:0.34; Unmatched score:0.14; Average GERP:1.499369306930692 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000303654; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001597 25445498 miR-196a2 rs11614913 C recessive 254 patients and 265 health controls Orphanet_388 N/A increasing risk Hirschsprung disease rs11614913-C of hsa-mir-196a-2 and its dysfunction is significantly associated with the increasing risk of Hirschsprung disease by using case-control analysis in 254 patients and 265 health controls 0.4 A common polymorphism in pre-miR-146a underlies Hirschsprung disease risk in Han Chinese. case-control analysis hsa-mir-196a-2 miRNA Hirschsprung disease 0.33 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001598 26198764 NONHSAT195403.1 rs6800435 A N/A 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls EFO_0000692 N/A Associate Schizophrenia rs6800435-A of NONHSAT195403.1 is significantly associated with the schizophrenia by using GWAS analysis in 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls(p-value = 5E-7 ;OR = 1.08). 0.4 Genome-wide association study of schizophrenia in Ashkenazi Jews. genome-wide association analysis NONHSAT195403.1 lncRNA Schizophrenia 0.33 TTGGCGCAGC(C > A,T)CTCTCCAGCT chr3: 10762866 0.6781,0.3219,. 0.72517679663608562,0.27471170998980632,0.00011149337410805 Region score:0.22; TSS score:0.19; Unmatched score:0.52; Average GERP:-0.8952465346534657 GeneName:AC018495.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000230599; TranscriptID:ENST00000440266; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LINC00606; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000226567; TranscriptID:ENST00000412578; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000677111; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001599 28017375 NONHSAT207026.1 rs13219787 ? N/A up to 21,020 european ancestry individuals//up to 3,621 african american individuals//up to 15,062 east asian individuals.; 16,389 individuals of european and african american ancestry. EFO_0004527 N/A Associate Mean corpuscular hemoglobin rs13219787-? of NONHSAT207026.1 is significantly associated with the mean corpuscular hemoglobin by using GWAS analysis in up to 21,020 european ancestry individuals//up to 3,621 african american individuals//up to 15,062 east asian individuals.; 16,389 individuals of european and african american ancestry.(p-value = 1E-8 ;OR = ?). 0.4 Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis. genome-wide association analysis NONHSAT207026.1 lncRNA Mean corpuscular hemoglobin 0.33 AGCCACTCAC(G > A,T)CTTCCAGAGA chr6: 27893892 N/A 0.95713079765545361,0.04268603465851172,0.00018316768603465 Region score:0.31; TSS score:0.46; Unmatched score:0.82; Average GERP:-0.40989306930693065 GeneName:HIST1H2AM; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000278677; TranscriptID:ENST00000359611; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HIST1H2BO; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000274641; TranscriptID:ENST00000616182; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HIST1H3J; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000197153; TranscriptID:ENST00000359303; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000195186; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RNU7-26P; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000238610; TranscriptID:ENST00000458980; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001600 26198764 NONHSAT130600.2 rs10967586 G N/A 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls EFO_0000692 N/A Associate Schizophrenia rs10967586-G of NONHSAT130600.2 is significantly associated with the schizophrenia by using GWAS analysis in 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls(p-value = 5E-7 ;OR = 1.0869565). 0.4 Genome-wide association study of schizophrenia in Ashkenazi Jews. genome-wide association analysis NONHSAT130600.2 lncRNA Schizophrenia 0.33 CAGCACTAAT(A > G)TGGTGACCTT chr9: 26895810 0.6789,0.3211 0.79984550203873598,0.20015449796126401 Region score:0.22; TSS score:0.07; Unmatched score:0.29; Average GERP:0.12973267326732646 GeneName:CAAP1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000120159; TranscriptID:ENST00000333916; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RN7SL100P; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000240306; TranscriptID:ENST00000460565; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001601 27157822 NONHSAT108757.2 rs1071816 ? N/A 38 european ancestry cases//1 case//5,170 european ancestry controls HP_0012235 Anti-thyroid drug Associate Anti-thyroid drug induced agranulocytosis rs1071816-? of NONHSAT108757.2 is significantly associated with the anti-thyroid drug induced agranulocytosis by using GWAS analysis in 38 european ancestry cases//1 case//5,170 european ancestry controls(p-value = 2E-9 ;OR = 5.27). 0.4 Genetic variants associated with antithyroid drug-induced agranulocytosis: a genome-wide association study in a European population. genome-wide association analysis NONHSAT108757.2 lncRNA Drug-induced agranulocytosis 0.33 CTGGGCCTTG(T > A,C,G)AGATCTGTGT chr6: 31356759 N/A RS=1071816;RSPOS=31356759;RV;dbSNPBuildID=100;SSR=0;SAO=0;VP=0x050360020a05170136100100;GENEINFO=MIR6891:102465537|HLA-B:3106;WGT=1;VC=SNV;PM;S3D;SLO;NSM;REF;R5;ASP;VLD;G5A;G5;GNO;KGPhase1;KGPhase3;LSD Region score:0.2; TSS score:0.26; Unmatched score:0.79; Average GERP:-0.7018930693069303 GeneName:AL671883.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000271581; TranscriptID:ENST00000603274; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HLA-B; CADD-Score:7; Consquence:missense; GeneID:ENSG00000234745; TranscriptID:ENST00000412585; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR6891; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277402; TranscriptID:ENST00000618788; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000195527; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000787551; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001602 26634245 NONHSAT173236.1 rs12927768 A N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs12927768-A of NONHSAT173236.1 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 2E-6 ;OR = 0.156). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT173236.1 lncRNA Pulmonary function measurement 0.33 GATCTCGCGG(G > A)GAATGTGCAA chr16: 71611360 0.9351,0.0649 0.89319731141692150,0.10680268858307849 Region score:0.39; TSS score:0.53; Unmatched score:0.44; Average GERP:-0.9075019801980194 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000281398; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001603 25811787 NONHSAT198713.1 rs11729931 C N/A up to 15,007 european ancestry male individuals//up to 16,943 european ancestry female individuals EFO_0004531 N/A Associate Urate levels (bmi interaction) rs11729931-C of NONHSAT198713.1 is significantly associated with the urate levels (bmi interaction) by using GWAS analysis in up to 15,007 european ancestry male individuals//up to 16,943 european ancestry female individuals(p-value = 3E-6 ;OR = 0.014849857). 0.4 Modulation of genetic associations with serum urate levels by body-mass-index in humans. genome-wide association analysis NONHSAT198713.1 lncRNA Urate measurement 0.33 GGTTTCTCCA(T > C)ATCCTCGTCA chr4: 74007918 0.3946,0.6054 0.37506371049949031,0.62493628950050968 Region score:0.28; TSS score:0.22; Unmatched score:0.13; Average GERP:-0.3259544554455445 GeneName:RN7SL218P; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000244194; TranscriptID:ENST00000464637; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001604 26663301 NONHSAT152549.1 rs76413021 ? N/A 1,174 korean ancestry cases//4,246 korean ancestry controls; 739 korean ancestry cases// 677 chinese ancestry cases// 436 korean ancestry controls//709 chinese ancestry controls EFO_0002690 N/A Associate Systemic lupus erythematosus rs76413021-? of NONHSAT152549.1 is significantly associated with the systemic lupus erythematosus by using GWAS analysis in 1,174 korean ancestry cases//4,246 korean ancestry controls; 739 korean ancestry cases// 677 chinese ancestry cases// 436 korean ancestry controls//709 chinese ancestry controls(p-value = 3E-13 ;OR = 1.52). 0.4 Identification of a Systemic Lupus Erythematosus Risk Locus Spanning ATG16L2, FCHSD2, and P2RY2 in Koreans. genome-wide association analysis NONHSAT152549.1 lncRNA Systemic lupus erythematosus 0.33 CCATGACTGT(G > A)AGACTGCCCC chr1: 173237158 0.9287,0.07129 0.95807849133537206,0.04192150866462793 Region score:0.38; TSS score:0.11; Unmatched score:0.04; Average GERP:0.12536633663366317 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000377550; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001605 19578365 NONHSAT192354.1 rs2284063 G N/A 1,524 european ancestry twins; 4,107 european ancestry individuals//3,131 european ancestry cases//4,276 european ancestry controls EFO_0000625 N/A Associate Cutaneous nevi rs2284063-G of NONHSAT192354.1 is significantly associated with the cutaneous nevi by using GWAS analysis in 1,524 european ancestry twins; 4,107 european ancestry individuals//3,131 european ancestry cases//4,276 european ancestry controls(p-value = 3E-8 ;OR = 0.08). 0.4 Genome-wide association study identifies variants at 9p21 and 22q13 associated with development of cutaneous nevi. genome-wide association analysis NONHSAT192354.1 lncRNA Nevus 0.33 AAAGGAAAGG(A > G)TAGCGAATGG chr22: 38148291 0.5817,0.4183 0.60313137104994903,0.39686862895005096 Region score:0.3; TSS score:0.23; Unmatched score:0.15; Average GERP:0.16747841584158418 GeneName:AL022322.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000279080; TranscriptID:ENST00000624072; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PLA2G6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000184381; TranscriptID:ENST00000332509; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001606 27863252 NONHSAT192269.1 rs5994578 T N/A 171,529 european ancestry individuals EFO_0005192 N/A Associate Red cell distribution width rs5994578-T of NONHSAT192269.1 is significantly associated with the red cell distribution width by using GWAS analysis in 171,529 european ancestry individuals(p-value = 7E-21 ;OR = 0.0338412). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT192269.1 lncRNA Red blood cell distribution width 0.33 TGCCGTGGTG(C > T)GATCTCGACT chr22: 32500603 0.361,0.639 0.36973591997961264,0.63026408002038735 Region score:0.2; TSS score:0.2; Unmatched score:0.08; Average GERP:-0.2795366336633663 GeneName:FBXO7; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000100225; TranscriptID:ENST00000266087; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001607 27992413 NONHSAT033321.2 rs61954180 C N/A 2,871 european ancestry cases//12,019 european ancestry controls; 1,925 european ancestry cases//7,936 european ancestry controls EFO_0004268 N/A Associate Primary sclerosing cholangitis rs61954180-C of NONHSAT033321.2 is significantly associated with the primary sclerosing cholangitis by using GWAS analysis in 2,871 european ancestry cases//12,019 european ancestry controls; 1,925 european ancestry cases//7,936 european ancestry controls(p-value = 2E-6 ;OR = 1.21). 0.4 Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease. genome-wide association analysis NONHSAT033321.2 lncRNA Sclerosing cholangitis 0.33 ACCCCGAGGC(A > C)GGCACCACAC chr13: 40220445 0.9381,0.0619 0.92904243119266055,0.07095756880733944 Region score:0.33; TSS score:0.3; Unmatched score:0.13; Average GERP:-1.3616435643564349 GeneName:LINC00598; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000215483; TranscriptID:ENST00000615947; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000479532; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RPL17P51; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000271429; TranscriptID:ENST00000605218; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001608 27863252 NONHSAT153303.1 rs3811445 G N/A 170,548 european ancestry individuals EFO_0007986 N/A Associate Immature fraction of reticulocytes rs3811445-G of NONHSAT153303.1 is significantly associated with the immature fraction of reticulocytes by using GWAS analysis in 170,548 european ancestry individuals(p-value = 6E-65 ;OR = 0.06109995). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT153303.1 lncRNA Reticulocyte count 0.33 TGCCACCCAC(A > G)ACAATAGCAG chr1: 247876411 0.4159,0.5841 0.40810556829765545,0.59189443170234454 Region score:0.12; TSS score:0.14; Unmatched score:0.28; Average GERP:-0.02590990099009915 GeneName:TRIM58; CADD-Score:5; Consquence:synonymous; GeneID:ENSG00000162722; TranscriptID:ENST00000366481; AnnoType:SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001609 28240269 NONHSAT187296.1 rs6750059 C N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0008310 N/A Associate Blood protein levels rs6750059-C of NONHSAT187296.1 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 1E-18 ;OR = 0.44). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. genome-wide association analysis NONHSAT187296.1 lncRNA Tumor necrosis factor receptor superfamily member edar measurement 0.33 TTCATCCTTC(C > A,T)AATAGGCAAG chr2: 108994641 0.237,.,0.763 0.28085180937818552,0.00000796381243628,0.71914022680937818 Region score:0.44; TSS score:0.4; Unmatched score:0.18; Average GERP:1.0340712871287125 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001610 24939585 NONHSAT207065.1 rs6904029 ? N/A 1,489 european ancestry individuals EFO_0005782 N/A Associate Age-related hearing impairment rs6904029-? of NONHSAT207065.1 is significantly associated with the age-related hearing impairment by using GWAS analysis in 1,489 european ancestry individuals(p-value = 3E-6 ;OR = 0.0464). 0.4 Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment. genome-wide association analysis NONHSAT207065.1 lncRNA Age-related hearing impairment 0.33 GAAAAAAGGA(G > A)GGCCCCAACT chr6: 29975290 0.744,0.256 0.73687563710499490,0.26312436289500509 Region score:0.25; TSS score:0.37; Unmatched score:0.84; Average GERP:-0.17386138613861388 GeneName:HCG9; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000204625; TranscriptID:ENST00000376800; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.2077; mirSVR-E:-19.87 | GeneName:MICD; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000229390; TranscriptID:ENST00000413248; AnnoType:UPSTREAM; mirSVR-Score:-0.2077; mirSVR-E:-19.87 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000195350; AnnoType:REGULATORY; mirSVR-Score:-0.2077; mirSVR-E:-19.87 | NCRV0000001611 27989323 NONHSAT162640.1 rs193153193 G N/A 3,682 finnish ancestry individuals EFO_0005140 N/A Associate Stem cell growth factor beta levels rs193153193-G of NONHSAT162640.1 is significantly associated with the stem cell growth factor beta levels by using GWAS analysis in 3,682 finnish ancestry individuals(p-value = 6E-7 ;OR = 0.6392). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. genome-wide association analysis NONHSAT162640.1 lncRNA Autoimmune disease 0.33 GACTACAGGC(G > A,T)CATACCACTA chr12: 100147460 0.9996,0.0003994,. 0.99997610856269113,0.00000796381243628,0.00001592762487257 Region score:0.18; TSS score:0.04; Unmatched score:0.04; Average GERP:0 GeneName:AC010203.2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000257696; TranscriptID:ENST00000550886; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:UHRF1BP1L; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000111647; TranscriptID:ENST00000279907; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001612 28240269 NONHSAT108768.2 rs2284178 T N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0008234 N/A Associate Blood protein levels rs2284178-T of NONHSAT108768.2 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 1E-14 ;OR = 0.3444). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. genome-wide association analysis NONHSAT108768.2 lncRNA Mhc class i polypeptide-related sequence b measurement 0.33 TTCTTTATGG(C > T)CAGCAGCCCT chr6: 31464348 0.531,0.469 0.54893762742099898,0.45106237257900101 Region score:0.31; TSS score:0.31; Unmatched score:0.74; Average GERP:0 GeneName:AL645933.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000233902; TranscriptID:ENST00000440087; AnnoType:UPSTREAM; mirSVR-Score:-0.1240; mirSVR-E:-19.23 | GeneName:HCP5; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000206337; TranscriptID:ENST00000414046; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.1240; mirSVR-E:-19.23 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000195544; AnnoType:REGULATORY; mirSVR-Score:-0.1240; mirSVR-E:-19.23 | NCRV0000001613 27951730 WT1-AS rs142949661 T N/a 313 aml patients EFO_0000222 N/A No significance for prognosis Acute myeloid leukemia rs142949661-T of WT1-AS and its dysfunction is not significantly associated with acute myeloid leukemia by using analysis of sequence variation in 313 AML patients. -0.4 Long non-coding RNA GAS5 polymorphism predicts a poor prognosis of acute myeloid leukemia in Chinese patients via affecting hematopoietic reconstitution. analysis of sequence variation WT1-AS lncRNA Acute myeloid leukemia -0.33 N/A N/A N/A N/A N/A N/A NCRV0000001614 25241763 NONHSAT195991.1 rs2623325 A N/A 18,963 european ancestry individuals//2,131 erasmus rucphen individuals; 2,453 chinese ancestry individuals//2,026 indian ancestry individuals//2,305 malay ancestry individuals EFO_0004832 N/A Associate Vertical cup-disc ratio rs2623325-A of NONHSAT195991.1 is significantly associated with the vertical cup-disc ratio by using GWAS analysis in 18,963 european ancestry individuals//2,131 erasmus rucphen individuals; 2,453 chinese ancestry individuals//2,026 indian ancestry individuals//2,305 malay ancestry individuals(p-value = 7E-10 ;OR = 0.016). 0.4 Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process. genome-wide association analysis NONHSAT195991.1 lncRNA Optic disc size measurement 0.33 GTTTGTGAAG(C > A)AAAGTCATCT chr3: 99412911 0.8069,0.1931 0.79555300713557594,0.20444699286442405 Region score:0.25; TSS score:0.36; Unmatched score:0.17; Average GERP:0.22578316831683182 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000155447; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001615 22778062 SNORD23 rs55813323 G N/A N/A function N/A not significant changes in the structure function rs55813323-G of SNORD23 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in nan -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD23 snoRNA function -0.049 AGTGGGGCCA(A > G,T)TGCCCAGGGG chr19: 47755943 0.982,0.01797,. 0.98352287206931702,0.01646120030581039,0.00001592762487257 Region score:0.28; TSS score:0.21; Unmatched score:0.58; Average GERP:1.0605029702970303 GeneName:NOP53-AS1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000269656; TranscriptID:ENST00000602048; AnnoType:DOWNSTREAM; mirSVR-Score:-0.1409; mirSVR-E:-18.00 | GeneName:NOP53; CADD-Score:2; Consquence:intron; GeneID:ENSG00000105373; TranscriptID:ENST00000246802; AnnoType:INTRONIC; mirSVR-Score:-0.1409; mirSVR-E:-18.00 | GeneName:SNORD23; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000221803; TranscriptID:ENST00000408876; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.1409; mirSVR-E:-18.00 | NCRV0000001616 28107422 NONHSAT119352.2 rs10950690 ? N/A 91,953 european ancestry individuals (imputed to hapmap); EFO_0004623 N/A Associate Fibrinogen levels rs10950690-? of NONHSAT119352.2 is significantly associated with the fibrinogen levels by using GWAS analysis in 91,953 european ancestry individuals (imputed to hapmap); (p-value = 1E-11 ;OR = 0.0071). 0.4 Comparison of HapMap and 1000 Genomes Reference Panels in a Large-Scale Genome-Wide Association Study. genome-wide association analysis NONHSAT119352.2 lncRNA Fibrinogen measurement 0.33 CTTACAGTCT(C > A,G)AAAACAATAA chr7: 17941687 0.6765,.,0.3235 0.61400993883792048,0.00001592762487257,0.38597413353720693 Region score:0.31; TSS score:0.49; Unmatched score:0.85; Average GERP:-0.355459603960396 GeneName:AC080080.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000279048; TranscriptID:ENST00000625121; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000209001; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNX13; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000071189; TranscriptID:ENST00000428135; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001617 24324551 NONHSAT160485.1 rs78972067 ? N/A 580 brazilian ancestry individuals EFO_0005529 N/A Associate Pr interval in tripanosoma cruzi seropositivity rs78972067-? of NONHSAT160485.1 is significantly associated with the pr interval in tripanosoma cruzi seropositivity by using GWAS analysis in 580 brazilian ancestry individuals(p-value = 8E-6 ;OR = ?). 0.4 Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects. genome-wide association analysis NONHSAT160485.1 lncRNA Chagas cardiomyopathy 0.33 AGCCCCCACT(C > T)CTGCCCGGGT chr11: 70212313 0.9655,0.03454 0.96146311162079510,0.03853688837920489 Region score:0.48; TSS score:0.46; Unmatched score:0.37; Average GERP:-0.4354622158415843 GeneName:AP000879.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000254721; TranscriptID:ENST00000526174; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:FADD; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000168040; TranscriptID:ENST00000301838; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001618 28928442 NONHSAT173128.1 rs77803191 ? N/A 52,218 european ancestry cases//10,235 european ancestry controls EFO_0008412 N/A Associate Yeast infection rs77803191-? of NONHSAT173128.1 is significantly associated with the yeast infection by using GWAS analysis in 52,218 european ancestry cases//10,235 european ancestry controls(p-value = 3E-6 ;OR = 0.1497). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. genome-wide association analysis NONHSAT173128.1 lncRNA Susceptibility to vaginal yeast infection measurement 0.33 TATCTCTACG(A > G)TAATTAACTT chr16: 59965443 0.9347,0.0653 0.97229389653414882,0.02770610346585117 Region score:0.3; TSS score:0.09; Unmatched score:0; Average GERP:-0.4407775247524746 GeneName:LINC02141; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000261807; TranscriptID:ENST00000568279; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001619 28448500 NONHSAT186577.1 rs4854344 ? N/A 561 african american women//352 filipino ancestry women//725 indian ancestry women//19,366 european ancestry women//251 african american men//4,654 indian ancestry men//11,727 european ancestry men//959 european ancestry individuals; 1,437 african american women//5,184 european ancestry women//64 african american men//5,416 european ancestry men EFO_0001073 joint analysis main effects and physical activity interaction Associate Body mass index (joint analysis main effects and physical activity interaction) rs4854344-? of NONHSAT186577.1 is significantly associated with the body mass index (joint analysis main effects and physical activity interaction) by using GWAS analysis in 561 african american women//352 filipino ancestry women//725 indian ancestry women//19,366 european ancestry women//251 african american men//4,654 indian ancestry men//11,727 european ancestry men//959 european ancestry individuals; 1,437 african american women//5,184 european ancestry women//64 african american men//5,416 european ancestry men(p-value = 9E-23 ;OR = ?). 0.4 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. genome-wide association analysis NONHSAT186577.1 lncRNA Obesity 0.451 GAACTGCAGG(G > T)AGCTGTAACA chr2: 638144 0.1544,0.8456 0.18019718399592252,0.81980281600407747 Region score:0.27; TSS score:0.3; Unmatched score:0.23; Average GERP:0.004188118811881123 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000289409; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001619 28448500 NONHSAT186577.1 rs4854344 T N/A 561 african american women//352 filipino ancestry women//725 indian ancestry women//19,366 european ancestry women//251 african american men//4,654 indian ancestry men//11,727 european ancestry men//959 european ancestry individuals; 1,437 african american women//5,184 european ancestry women//64 african american men//5,416 european ancestry men EFO_0001073 joint analysis main effects and physical activity interaction Associate Body mass index rs4854344-T of NONHSAT186577.1 is significantly associated with the body mass index by using GWAS analysis in 561 african american women//352 filipino ancestry women//725 indian ancestry women//19,366 european ancestry women//251 african american men//4,654 indian ancestry men//11,727 european ancestry men//959 european ancestry individuals; 1,437 african american women//5,184 european ancestry women//64 african american men//5,416 european ancestry men(p-value = 2E-22 ;OR = 0.0678). 0.4 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. genome-wide association analysis NONHSAT186577.1 lncRNA Obesity 0.451 GAACTGCAGG(G > T)AGCTGTAACA chr2: 638144 0.1544,0.8456 0.18019718399592252,0.81980281600407747 Region score:0.27; TSS score:0.3; Unmatched score:0.23; Average GERP:0.004188118811881123 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000289409; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001620 28654678 NONHSAT108733.2 rs1062630 ? N/A 389 east asian ancestry individuals//189 south asian ancestry individuals//492 european ancestry individuals//467 sub-saharan african ancestry individuals//59 african american individuals//157 hispanic/latino individuals EFO_0000769 N/A Associate Epstein-barr virus copy number in lymphoblastoid cell lines rs1062630-? of NONHSAT108733.2 is significantly associated with the epstein-barr virus copy number in lymphoblastoid cell lines by using GWAS analysis in 389 east asian ancestry individuals//189 south asian ancestry individuals//492 european ancestry individuals//467 sub-saharan african ancestry individuals//59 african american individuals//157 hispanic/latino individuals(p-value = 1E-6 ;OR = ?). 0.4 Genetic factors affecting EBV copy number in lymphoblastoid cell lines derived from the 1000 Genome Project samples. genome-wide association analysis NONHSAT108733.2 lncRNA Epstein-barr virus infection 0.33 CTCCTGCTTC(G > A)CCCTCAGGCT chr6: 31170330 0.8309,0.1691 0.77015640927624872,0.22984359072375127 Region score:0.17; TSS score:0.21; Unmatched score:0.67; Average GERP:1.3132594059405942 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000787508; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:POU5F1; CADD-Score:5; Consquence:synonymous; GeneID:ENSG00000204531; TranscriptID:ENST00000259915; AnnoType:SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PSORS1C3; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000204528; TranscriptID:ENST00000412143; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TCF19; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000137310; TranscriptID:ENST00000542218; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001621 23251661 NONHSAT206072.1 rs17668565 G N/A 815 hispanic children from 263 families EFO_0004338 N/A Associate Obesity-related traits rs17668565-G of NONHSAT206072.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 5E-7 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. genome-wide association analysis NONHSAT206072.1 lncRNA Body weight 0.33 TGACTAAGGC(T > A,C)TAAATTCCAA chr5: 92818872 0.6346,.,0.3654 0.55580243374108053,0.00001592762487257,0.44418163863404689 Region score:0.39; TSS score:0.34; Unmatched score:0.13; Average GERP:0.1944217821782178 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001622 28548082 NONHSAT179793.1 rs7412 T N/A up to 1,476 mylopotamos (founder/genetic isolate) individuals//up to 1,737 pomak (founder/genetic isolate) individuals EFO_0004611 N/A Associate Low density lipoprotein cholesterol rs7412-T of NONHSAT179793.1 is significantly associated with the low density lipoprotein cholesterol by using GWAS analysis in up to 1,476 mylopotamos (founder/genetic isolate) individuals//up to 1,737 pomak (founder/genetic isolate) individuals(p-value = 3E-19 ;OR = 0.419). 0.4 Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits. genome-wide association analysis NONHSAT179793.1 lncRNA Low density lipoprotein cholesterol measurement 0.451 CCTGCAGAAG(C > T)GCCTGGCAGT chr19: 44908822 0.9249,0.07508 0.91786123853211009,0.08213876146788990 Region score:0.36; TSS score:0.39; Unmatched score:0.61; Average GERP:1.2422673267326734 GeneName:AC011481.3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000280087; TranscriptID:ENST00000623895; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:APOE; CADD-Score:7; Consquence:missense; GeneID:ENSG00000130203; TranscriptID:ENST00000252486; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001622 20838585 NONHSAT179793.1 rs7412 ? N/A 525 european ancestry individuals; 2,442 finnish ancestry individuals EFO_0004611 N/A Associate Cardiovascular risk factors rs7412-? of NONHSAT179793.1 is significantly associated with the cardiovascular risk factors by using GWAS analysis in 525 european ancestry individuals; 2,442 finnish ancestry individuals(p-value = 9E-19 ;OR = 11.96). 0.4 Longitudinal genome-wide association of cardiovascular disease risk factors in the Bogalusa heart study. genome-wide association analysis NONHSAT179793.1 lncRNA Low density lipoprotein cholesterol measurement 0.451 CCTGCAGAAG(C > T)GCCTGGCAGT chr19: 44908822 0.9249,0.07508 0.91786123853211009,0.08213876146788990 Region score:0.36; TSS score:0.39; Unmatched score:0.61; Average GERP:1.2422673267326734 GeneName:AC011481.3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000280087; TranscriptID:ENST00000623895; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:APOE; CADD-Score:7; Consquence:missense; GeneID:ENSG00000130203; TranscriptID:ENST00000252486; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001623 22778062 SNORD19 rs78417298 T N/a N/a function N/A Not significant changes in the structure Function rs78417298-T of SNORD19 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD19 snoRNA Function -0.049 CTGATTAGAT(C > T)CAACTCTGAT chr3: 52689293 0.9908,0.009185 0.98377771406727828,0.01622228593272171 Region score:0.67; TSS score:0.39; Unmatched score:0.67; Average GERP:2.436060396039605 GeneName:GNL3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000163938; TranscriptID:ENST00000418458; AnnoType:INTRONIC; mirSVR-Score:-0.9109; mirSVR-E:-21.98 | GeneName:PBRM1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000163939; TranscriptID:ENST00000394830; AnnoType:UPSTREAM; mirSVR-Score:-0.9109; mirSVR-E:-21.98 | GeneName:RF00569; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000252787; TranscriptID:ENST00000516978; AnnoType:DOWNSTREAM; mirSVR-Score:-0.9109; mirSVR-E:-21.98 | GeneName:RF01183; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000280904; TranscriptID:ENST00000630615; AnnoType:DOWNSTREAM; mirSVR-Score:-0.9109; mirSVR-E:-21.98 | GeneName:SNORD19B; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000238862; TranscriptID:ENST00000459623; AnnoType:UPSTREAM; mirSVR-Score:-0.9109; mirSVR-E:-21.98 | GeneName:SNORD19; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000212493; TranscriptID:ENST00000391191; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.9109; mirSVR-E:-21.98 | GeneName:SNORD19C; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000222345; TranscriptID:ENST00000410413; AnnoType:UPSTREAM; mirSVR-Score:-0.9109; mirSVR-E:-21.98 | GeneName:SNORD69; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000212452; TranscriptID:ENST00000391150; AnnoType:UPSTREAM; mirSVR-Score:-0.9109; mirSVR-E:-21.98 | NCRV0000001624 27863252 NONHSAT157985.1 rs3011641 A N/A 169,545 european ancestry individuals EFO_0007997 N/A Associate Granulocyte percentage of myeloid white cells rs3011641-A of NONHSAT157985.1 is significantly associated with the granulocyte percentage of myeloid white cells by using GWAS analysis in 169,545 european ancestry individuals(p-value = 2E-9 ;OR = 0.02558851). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT157985.1 lncRNA Granulocyte percentage of myeloid white cells 0.33 GTCCACTGTA(C > A)AGTGGAAATC chr10: 22104761 0.8732,0.1268 0.82767106269113149,0.17232893730886850 Region score:0.42; TSS score:0.24; Unmatched score:0.01; Average GERP:-1.0111356435643568 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001625 27863252 NONHSAT108739.2 rs28749551 C N/A 170,721 european ancestry individuals EFO_0005091 N/A Associate Monocyte count rs28749551-C of NONHSAT108739.2 is significantly associated with the monocyte count by using GWAS analysis in 170,721 european ancestry individuals(p-value = 8E-18 ;OR = 0.03930922). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT108739.2 lncRNA Monocyte count 0.33 TCTACACTCT(G > C)TATCTAGCTG chr6: 31196195 0.8419,0.1581 0.83786474260958205,0.16213525739041794 Region score:0.18; TSS score:0.12; Unmatched score:0.12; Average GERP:0 GeneName:AL662844.3; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000271821; TranscriptID:ENST00000606909; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AL662844.4; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000272501; TranscriptID:ENST00000606367; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HCG27; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000206344; TranscriptID:ENST00000383331; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000195513; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001626 26634245 NONHSAT047596.2 rs11639347 T N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs11639347-T of NONHSAT047596.2 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 7E-7 ;OR = 0.047). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT047596.2 lncRNA Pulmonary function measurement 0.33 TTGGGGGGCA(C > T)TCAGATGTAG chr15: 78732008 0.7059,0.2941 0.66361652650356778,0.33638347349643221 Region score:0.14; TSS score:0.41; Unmatched score:0.22; Average GERP:-0.061400990099009914 GeneName:AC022748.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000261303; TranscriptID:ENST00000564933; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CHRNB4; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000117971; TranscriptID:ENST00000558216; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001627 28991256 NONHSAT215692.1 rs5891007 ? N/A 7,699 chinese ancestry cases//35,476 european ancestry cases//18,327 chinese ancestry controls//46,839 european ancestry controls; 4,384 chinese ancestry cases//5,770 chinese ancestry controls EFO_0000692 N/A Associate Schizophrenia rs5891007-? of NONHSAT215692.1 is significantly associated with the schizophrenia by using GWAS analysis in 7,699 chinese ancestry cases//35,476 european ancestry cases//18,327 chinese ancestry controls//46,839 european ancestry controls; 4,384 chinese ancestry cases//5,770 chinese ancestry controls(p-value = 1E-7 ;OR = 1.1086475). 0.4 Genome-wide association analysis identifies 30 new susceptibility loci for schizophrenia. genome-wide association analysis NONHSAT215692.1 lncRNA Schizophrenia 0.33 TGATTTTGTT(A > AT)TTAAAAAAAA chr8: 38163492 0.8105,0.1895 0.79251879459734964,0.20748120540265035 N/A GeneName:AC084024.3; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253356; TranscriptID:ENST00000520598; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.1917; mirSVR-E:-2.70 | GeneName:LSM1; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000175324; TranscriptID:ENST00000311351; AnnoType:3PRIME_UTR; mirSVR-Score:-0.1917; mirSVR-E:-2.70 | GeneName:RNU6-323P; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000253739; TranscriptID:ENST00000521915; AnnoType:DOWNSTREAM; mirSVR-Score:-0.1917; mirSVR-E:-2.70 | NCRV0000001628 28135244 NONHSAT216500.1 rs894344 A N/A 140,882 european ancestry individuals; 190,318 european ancestry individuals EFO_0000319 N/A Associate Systolic blood pressure rs894344-A of NONHSAT216500.1 is significantly associated with the systolic blood pressure by using GWAS analysis in 140,882 european ancestry individuals; 190,318 european ancestry individuals(p-value = 3E-8 ;OR = 0.258). 0.4 Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk. genome-wide association analysis NONHSAT216500.1 lncRNA Cardiovascular disease 0.33 AGTCACAGCC(A > G)TCGGTGGGAC chr8: 134600502 0.509,0.491 0.57264589704383282,0.42735410295616717 Region score:0.37; TSS score:0.63; Unmatched score:0.82; Average GERP:4.35206138613862 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000870927; AnnoType:REGULATORY; mirSVR-Score:-1.0940; mirSVR-E:-19.93 | GeneName:RF02211; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000276140; TranscriptID:ENST00000620907; AnnoType:DOWNSTREAM; mirSVR-Score:-1.0940; mirSVR-E:-19.93 | GeneName:RF02212; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000277732; TranscriptID:ENST00000613742; AnnoType:DOWNSTREAM; mirSVR-Score:-1.0940; mirSVR-E:-19.93 | GeneName:RF02213; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000278454; TranscriptID:ENST00000611506; AnnoType:DOWNSTREAM; mirSVR-Score:-1.0940; mirSVR-E:-19.93 | GeneName:ZFAT-AS1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000248492; TranscriptID:ENST00000505776; AnnoType:NONCODING_CHANGE; mirSVR-Score:-1.0940; mirSVR-E:-19.93 | GeneName:ZFAT; CADD-Score:5; Consquence:synonymous; GeneID:ENSG00000066827; TranscriptID:ENST00000377838; AnnoType:SYNONYMOUS; mirSVR-Score:-1.0940; mirSVR-E:-19.93 | NCRV0000001629 28358873 NEAT1 chr11:65195872 ? Dominant 278 pRCC patients EFO_0000640 N/A poor prognosis papillary renal cell carcinoma chr11:65195872-? of NEAT1 and its dysfunction is significantly associated with the poor prognosis of Papillary renal cell carcinoma by using analysis of sequence variation in 278 pRCC patients 0.4 Whole-genome analysis of papillary kidney cancer finds significant noncoding alterations. analysis of sequence variation NEAT1 lncRNA Papillary renal cell carcinoma 0.451 - chr11:65195872 - - - - NCRV0000001629 28358873 NEAT1 chr11:65195872 - Dominant 278 prcc patients EFO_0000640 N/A Poor prognosis Papillary renal-cell carcinoma chr11:65195872 of NEAT1 and its dysfunction is significantly associated with the poor prognosis of papillary renal-cell carcinoma by using analysis of sequence variation in 278 pRCC patients . 0.4 Whole-genome analysis of papillary kidney cancer finds significant noncoding alterations. analysis of sequence variation NEAT1 lncRNA Papillary renal cell cancer 0.451 N/A N/A N/A N/A N/A N/A NCRV0000001630 29059683 NONHSAT214854.1 rs17268829 T N/A 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls EFO_0000305 N/A Associate Breast cancer rs17268829-T of NONHSAT214854.1 is significantly associated with the breast cancer by using GWAS analysis in 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls(p-value = 5E-13 ;OR = 1.05). 0.4 Association analysis identifies 65 new breast cancer risk loci. genome-wide association analysis NONHSAT214854.1 lncRNA Breast cancer 0.33 ATTGTTTATA(T > C)ATTTAATATG chr7: 94484487 0.7542,0.2458 0.78281887104994903,0.21718112895005096 Region score:0.33; TSS score:0.27; Unmatched score:0.12; Average GERP:-0.06722772277227727 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001631 24097068 NONHSAT185468.1 rs2030746 T N/A 94,595 european ancestry individuals; 93,982 european ancestry individuals EFO_0000319 N/A Associate Ldl cholesterol rs2030746-T of NONHSAT185468.1 is significantly associated with the ldl cholesterol by using GWAS analysis in 94,595 european ancestry individuals; 93,982 european ancestry individuals(p-value = 9E-9 ;OR = 0.021). 0.4 Discovery and refinement of loci associated with lipid levels. genome-wide association analysis NONHSAT185468.1 lncRNA Cardiovascular disease 0.451 TTCCTGGGTC(C > T)CTTGGGGAGG chr2: 120551912 0.5459,0.4541 0.55477510193679918,0.44522489806320081 Region score:0.24; TSS score:0.63; Unmatched score:0.5; Average GERP:-0.9785817821782177 GeneName:AC073257.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000232140; TranscriptID:ENST00000432474; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001631 28334899 NONHSAT185468.1 rs2030746 T N/A 32,285 east asian ancestry individuals//173,082 european ancestry individuals; 8,478 chinese ancestry individuals EFO_0000319 N/A Associate Ldl cholesterol levels rs2030746-T of NONHSAT185468.1 is significantly associated with the ldl cholesterol levels by using GWAS analysis in 32,285 east asian ancestry individuals//173,082 european ancestry individuals; 8,478 chinese ancestry individuals(p-value = 8E-9 ;OR = 0.0214). 0.4 Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels. genome-wide association analysis NONHSAT185468.1 lncRNA Cardiovascular disease 0.451 TTCCTGGGTC(C > T)CTTGGGGAGG chr2: 120551912 0.5459,0.4541 0.55477510193679918,0.44522489806320081 Region score:0.24; TSS score:0.63; Unmatched score:0.5; Average GERP:-0.9785817821782177 GeneName:AC073257.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000232140; TranscriptID:ENST00000432474; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001632 22778062 SNORD115-12 rs2714776 T N/a N/a function N/A Not significant changes in the structure Function rs2714776-T of SNORD115-12 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD115-12 snoRNA Function -0.049 TGGGTTGGGT(C > A,G,T)GATGATGAGA chr15: 25191420 N/A 0.99808868501529051,.,.,0.00191131498470948 Region score:0.39; TSS score:0.07; Unmatched score:0.44; Average GERP:-0.1732940594059404 GeneName:SNHG14; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000224078; TranscriptID:ENST00000414175; AnnoType:INTRONIC; mirSVR-Score:-0.1185; mirSVR-E:-16.02 | GeneName:SNORD115-10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000201943; TranscriptID:ENST00000365073; AnnoType:DOWNSTREAM; mirSVR-Score:-0.1185; mirSVR-E:-16.02 | GeneName:SNORD115-11; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000200486; TranscriptID:ENST00000363616; AnnoType:DOWNSTREAM; mirSVR-Score:-0.1185; mirSVR-E:-16.02 | GeneName:SNORD115-12; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000199453; TranscriptID:ENST00000362583; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.1185; mirSVR-E:-16.02 | GeneName:SNORD115-13; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000273835; TranscriptID:ENST00000363358; AnnoType:UPSTREAM; mirSVR-Score:-0.1185; mirSVR-E:-16.02 | GeneName:SNORD115-14; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000199960; TranscriptID:ENST00000363090; AnnoType:UPSTREAM; mirSVR-Score:-0.1185; mirSVR-E:-16.02 | NCRV0000001633 18391951 NONHSAT029960.2 rs3825199 C N/A 30,968 european ancestry individuals; 8,541 european ancestry individuals EFO_0004339 N/A Associate Height rs3825199-C of NONHSAT029960.2 is significantly associated with the height by using GWAS analysis in 30,968 european ancestry individuals; 8,541 european ancestry individuals(p-value = 2E-7 ;OR = 6.2). 0.4 Many sequence variants affecting diversity of adult human height. genome-wide association analysis NONHSAT029960.2 lncRNA Body height 0.451 CATCATCATC(A > G,T)TCATCATAAC chr12: 93583178 0.7778,0.2222,. 0.76791061416921508,0.23204956676860346,0.00003981906218144 Region score:0.27; TSS score:0.41; Unmatched score:0.46; Average GERP:0.12175643564356434 GeneName:SOCS2; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000120833; TranscriptID:ENST00000549510; AnnoType:3PRIME_UTR; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001633 25282103 NONHSAT029960.2 rs3825199 A N/A 253,288 european ancestry individuals; 80,067 european ancestry individuals EFO_0004339 N/A Associate Height rs3825199-A of NONHSAT029960.2 is significantly associated with the height by using GWAS analysis in 253,288 european ancestry individuals; 80,067 european ancestry individuals(p-value = 4E-49 ;OR = 0.051). 0.4 Defining the role of common variation in the genomic and biological architecture of adult human height. genome-wide association analysis NONHSAT029960.2 lncRNA Body height 0.451 CATCATCATC(A > G,T)TCATCATAAC chr12: 93583178 0.7778,0.2222,. 0.76791061416921508,0.23204956676860346,0.00003981906218144 Region score:0.27; TSS score:0.41; Unmatched score:0.46; Average GERP:0.12175643564356434 GeneName:SOCS2; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000120833; TranscriptID:ENST00000549510; AnnoType:3PRIME_UTR; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001634 24324551 NONHSAT079029.2 rs3176130 ? N/A 580 brazilian ancestry individuals EFO_0005529 N/A Associate Pr interval in tripanosoma cruzi seropositivity rs3176130-? of NONHSAT079029.2 is significantly associated with the pr interval in tripanosoma cruzi seropositivity by using GWAS analysis in 580 brazilian ancestry individuals(p-value = 2E-7 ;OR = ?). 0.4 Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects. genome-wide association analysis NONHSAT079029.2 lncRNA Chagas cardiomyopathy 0.33 GCACAGAGTC(C > T)TCCTTCTGGG chr20: 23051019 0.9595,0.04054 0.96544501783893985,0.03455498216106014 Region score:0.34; TSS score:0.51; Unmatched score:0.81; Average GERP:-1.8495525742574261 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000135611; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000647816; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:THBD; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000178726; TranscriptID:ENST00000377103; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001635 27989323 NONHSAT173596.1 rs35137126 GC N/A 7,701 finnish ancestry individuals EFO_0008165 N/A Associate Interferon gamma levels rs35137126-GC of NONHSAT173596.1 is significantly associated with the interferon gamma levels by using GWAS analysis in 7,701 finnish ancestry individuals(p-value = 9E-6 ;OR = 0.0772). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. genome-wide association analysis NONHSAT173596.1 lncRNA Interferon gamma measurement 0.33 TCCCCCTCAA(GC > G)CTTTCTCTCC chr16: 10594408 0.6444,0.3556 0.59246782619775739,0.40753217380224260 N/A GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000530856; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000530857; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001636 25865494 NONHSAT035181.2 rs2277425 G N/A 3,545 african americans individuals//12,965 european ancestry women//8,625 european ancestry men EFO_0007118 N/A Associate Sitting height ratio rs2277425-G of NONHSAT035181.2 is significantly associated with the sitting height ratio by using GWAS analysis in 3,545 african americans individuals//12,965 european ancestry women//8,625 european ancestry men(p-value = 8E-6 ;OR = 0.075). 0.4 Genome-wide Analysis of Body Proportion Classifies Height-Associated Variants by Mechanism of Action and Implicates Genes Important for Skeletal Development. genome-wide association analysis NONHSAT035181.2 lncRNA Sitting height ratio 0.33 GTTCCCGCAC(A > G)GCAGCCGCCC chr13: 110869911 0.878,0.122 0.86197916666666666,0.13802083333333333 Region score:0.45; TSS score:0.37; Unmatched score:0.76; Average GERP:-0.6087881188118812 GeneName:LINC00346; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000255874; TranscriptID:ENST00000538077; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000065902; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000490945; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001637 21804548 NONHSAT207122.1 rs3117098 G N/A 1,532 japanese ancestry cases//3,304 japanese ancestry controls; 5,639 japanese ancestry cases//24,608 japanese ancestry controls EFO_0000270 N/A Associate Asthma rs3117098-G of NONHSAT207122.1 is significantly associated with the asthma by using GWAS analysis in 1,532 japanese ancestry cases//3,304 japanese ancestry controls; 5,639 japanese ancestry cases//24,608 japanese ancestry controls(p-value = 5E-12 ;OR = 1.16). 0.4 Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population. genome-wide association analysis NONHSAT207122.1 lncRNA Asthma 0.33 TACATTCACT(G > A)GGAAGGAAGA chr6: 32390736 0.2474,0.7526 0.28302593017329255,0.71697406982670744 Region score:0.12; TSS score:0.16; Unmatched score:0.54; Average GERP:-0.5883497029702973 GeneName:BTNL2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000204290; TranscriptID:ENST00000454136; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TSBP1-AS1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000225914; TranscriptID:ENST00000426643; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001638 27846195 NONHSAT022124.2 rs4102217 G N/A 1,390 european ancestry cases EFO_0000692 paliperidone Associate Response to paliperidone in schizophrenia (positive marder score) rs4102217-G of NONHSAT022124.2 is significantly associated with the response to paliperidone in schizophrenia (positive marder score) by using GWAS analysis in 1,390 european ancestry cases(p-value = 7E-6 ;OR = 1.2945). 0.4 Genome-wide association study of paliperidone efficacy. genome-wide association analysis NONHSAT022124.2 lncRNA Schizophrenia 0.33 AGAAGTGCTG(G > C)AGAGGAAGGG chr11: 65496424 0.8718,0.1282 0.83986365953109072,0.16013634046890927 Region score:0.41; TSS score:0.52; Unmatched score:0.67; Average GERP:-1.0584665346534654 GeneName:AP000769.2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000270117; TranscriptID:ENST00000602344; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MALAT1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000251562; TranscriptID:ENST00000534336; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000432700; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001639 28604730 NONHSAT042085.2 rs2439831 C N/A 23,223 european ancestry cases// 16,964 european ancestry controls EFO_0001071 in ever smokers Associate Lung cancer in ever smokers rs2439831-C of NONHSAT042085.2 is significantly associated with the lung cancer in ever smokers by using GWAS analysis in 23,223 european ancestry cases// 16,964 european ancestry controls(p-value = 4E-6 ;OR = 1.1158895). 0.4 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. genome-wide association analysis NONHSAT042085.2 lncRNA Lung cancer 0.33 AACAAGGTAT(C > T)ACTCACCAAC chr15: 43492277 0.6306,0.3694 0.70594418960244648,0.29405581039755351 Region score:0.33; TSS score:0.27; Unmatched score:0.71; Average GERP:1.0925770000000004 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000075846; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TP53BP1; CADD-Score:5; Consquence:splice,intron; GeneID:ENSG00000067369; TranscriptID:ENST00000382044; AnnoType:SPLICE_SITE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001640 28691018 miR-10b rs1348807 G N/A 1,064 breast cancer cases and 1,073 cancer-free controls EFO_0000305 N/A no significance for risk breast carcinoma rs1348807-G of hsa-mir-10b and its dysfunction is not significantly associated with Breast carcinoma by using case-control analysis in 1,064 breast cancer cases and 1,073 cancer-free controls -0.4 Genetic Variants in the Promoter Region of miR-10b and the Risk of Breast Cancer. case-control analysis hsa-mir-10b miRNA Breast carcinoma -0.33 CCGTGGGTCT(C > A,T)GTCATTTACC chr2: 176141029 0.3552,.,0.6448 0.35725662589194699,0.00000796381243628,0.64273541029561671 Region score:0.37; TSS score:0.5; Unmatched score:0.68; Average GERP:-0.6600178217821782 GeneName:HOXD3; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000128652; TranscriptID:ENST00000459979; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXD-AS2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000237380; TranscriptID:ENST00000440016; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000126751; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000629031; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001641 26460308 NONHSAT206292.1 rs7712513 C N/A 852 european ancestry cases; 685 european ancestry cases EFO_0000403 treated with immunochemotherapy Associate Event free survival in diffuse large b-cell lymphoma treated with immunochemotherapy rs7712513-C of NONHSAT206292.1 is significantly associated with the event free survival in diffuse large b-cell lymphoma treated with immunochemotherapy by using GWAS analysis in 852 european ancestry cases; 685 european ancestry cases(p-value = 2E-7 ;OR = 1.39). 0.4 Genome-Wide Association Study of Event-Free Survival in Diffuse Large B-Cell Lymphoma Treated With Immunochemotherapy. genome-wide association analysis NONHSAT206292.1 lncRNA Diffuse large b-cell lymphoma 0.33 TGTTGATATG(G > T)GTGTCCCATA chr5: 122582513 0.2582,0.7418 0.28778032619775739,0.71221967380224260 Region score:0.43; TSS score:0.29; Unmatched score:0.13; Average GERP:-1.6957524752475237 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001642 27863252 NONHSAT182126.1 rs57339844 G N/A 164,454 european ancestry individuals EFO_0004584 N/A Associate Mean platelet volume rs57339844-G of NONHSAT182126.1 is significantly associated with the mean platelet volume by using GWAS analysis in 164,454 european ancestry individuals(p-value = 4E-9 ;OR = 0.02152956). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT182126.1 lncRNA Mean platelet volume 0.33 GGACAGCAGC(GTT > G)TTTTTTTTTT chr2: 85891153 0.4371,0.5629 0.50007963812436289,0.49992036187563710 N/A GeneName:ST3GAL5-AS1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000232504; TranscriptID:ENST00000455121; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ST3GAL5; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000115525; TranscriptID:ENST00000638572; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001643 25644384 NONHSAT179017.1 rs307120 ? N/A 51,719 european ancestry individuals 1,473 erasmus rupchen (founder/genetic isolate) individuals//327 korculan (founder/genetic isolate) individuals//430 orcadian (founder/genetic isolate) individuals EFO_0003925 N/A Associate Cognitive function rs307120-? of NONHSAT179017.1 is significantly associated with the cognitive function by using GWAS analysis in 51,719 european ancestry individuals 1,473 erasmus rupchen (founder/genetic isolate) individuals//327 korculan (founder/genetic isolate) individuals//430 orcadian (founder/genetic isolate) individuals(p-value = 5E-6 ;OR = 0.0277). 0.4 Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53949). genome-wide association analysis NONHSAT179017.1 lncRNA Cognition 0.33 AGGGCAGCTA(C > T)CATTTAATAT chr18: 40039975 0.6837,0.3163 0.65525452344546381,0.34474547655453618 Region score:0.46; TSS score:0.6; Unmatched score:0.28; Average GERP:1.681945544554456 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001644 24475105 miR-101 rs4742051 G N/A 1064 breast cancer cases and 1073 cancer-free controls EFO_0000305 N/A no significance for risk breast carcinoma rs4742051-G of hsa-mir-101-1 and its dysfunction is not significantly associated with Breast carcinoma by using case-control analysis in 1064 breast cancer cases and 1073 cancer-free controls -0.4 Genetic variations in the flanking regions of miR-101-2 are associated with increased risk of breast cancer. case-control analysis hsa-mir-101-1 miRNA Breast carcinoma -0.33 TGTGTGGACT(G > A)TGATTCTGGG chr9: 4858997 0.4712,0.5288 0.46002166156982670,0.53997833843017329 Region score:0.16; TSS score:0.13; Unmatched score:0.13; Average GERP:-0.7805623762376237 GeneName:RCL1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000120158; TranscriptID:ENST00000381750; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001645 21123754 NONHSAT179793.1 rs429358 ? N/A 96 european ancestry alzheimer disease cases//176 european ancestry individuals with mild cognitive impairment//102 european ancestry controls EFO_0000249 N/A Associate Alzheimer's disease biomarkers rs429358-? of NONHSAT179793.1 is significantly associated with the alzheimer's disease biomarkers by using GWAS analysis in 96 european ancestry alzheimer disease cases//176 european ancestry individuals with mild cognitive impairment//102 european ancestry controls(p-value = 1E-6 ;OR = ?). 0.4 Genome-wide association study of CSF biomarkers Abeta1-42, t-tau, and p-tau181p in the ADNI cohort. genome-wide association analysis NONHSAT179793.1 lncRNA Alzheimers disease 0.599 GGAGGACGTG(T > C)GCGGCCGCCT chr19: 44908684 0.8494,0.1506 0.84440303261977573,0.15559696738022426 Region score:0.28; TSS score:0.39; Unmatched score:0.64; Average GERP:1.473687128712871 GeneName:AC011481.3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000280087; TranscriptID:ENST00000623895; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:APOE; CADD-Score:7; Consquence:missense; GeneID:ENSG00000130203; TranscriptID:ENST00000252486; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TOMM40; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000130204; TranscriptID:ENST00000252487; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001645 26252872 NONHSAT179793.1 rs429358 C N/A up to 883 european and other ancestry individuals EFO_0000249 N/A Associate Cerebral amyloid deposition positivity (pet imaging) rs429358-C of NONHSAT179793.1 is significantly associated with the cerebral amyloid deposition positivity (pet imaging) by using GWAS analysis in up to 883 european and other ancestry individuals(p-value = 5E-20 ;OR = 4.72). 0.4 Variations in the FRA10AC1 Fragile Site and 15q21 Are Associated with Cerebrospinal Fluid Abeta1-42 Level. genome-wide association analysis NONHSAT179793.1 lncRNA Alzheimers disease 0.599 GGAGGACGTG(T > C)GCGGCCGCCT chr19: 44908684 0.8494,0.1506 0.84440303261977573,0.15559696738022426 Region score:0.28; TSS score:0.39; Unmatched score:0.64; Average GERP:1.473687128712871 GeneName:AC011481.3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000280087; TranscriptID:ENST00000623895; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:APOE; CADD-Score:7; Consquence:missense; GeneID:ENSG00000130203; TranscriptID:ENST00000252486; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TOMM40; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000130204; TranscriptID:ENST00000252487; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001645 25027320 NONHSAT179793.1 rs429358 ? N/A 363 european ancestry individuals; 515 individuals EFO_0000249 N/A Associate Cerebrospinal ab1-42 levels in alzheimer's disease dementia rs429358-? of NONHSAT179793.1 is significantly associated with the cerebrospinal ab1-42 levels in alzheimer's disease dementia by using GWAS analysis in 363 european ancestry individuals; 515 individuals(p-value = 4E-17 ;OR = 0.4). 0.4 SUCLG2 identified as both a determinator of CSF Abeta1-42 levels and an attenuator of cognitive decline in Alzheimer's disease. genome-wide association analysis NONHSAT179793.1 lncRNA Alzheimers disease 0.599 GGAGGACGTG(T > C)GCGGCCGCCT chr19: 44908684 0.8494,0.1506 0.84440303261977573,0.15559696738022426 Region score:0.28; TSS score:0.39; Unmatched score:0.64; Average GERP:1.473687128712871 GeneName:AC011481.3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000280087; TranscriptID:ENST00000623895; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:APOE; CADD-Score:7; Consquence:missense; GeneID:ENSG00000130203; TranscriptID:ENST00000252486; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TOMM40; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000130204; TranscriptID:ENST00000252487; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001645 23419831 NONHSAT179793.1 rs429358 C N/A 555 european ancestry individuals EFO_0000249 N/A Associate Alzheimer's disease biomarkers rs429358-C of NONHSAT179793.1 is significantly associated with the alzheimer's disease biomarkers by using GWAS analysis in 555 european ancestry individuals(p-value = 5E-14 ;OR = ?). 0.4 APOE and BCHE as modulators of cerebral amyloid deposition: a florbetapir PET genome-wide association study. genome-wide association analysis NONHSAT179793.1 lncRNA Alzheimers disease 0.599 GGAGGACGTG(T > C)GCGGCCGCCT chr19: 44908684 0.8494,0.1506 0.84440303261977573,0.15559696738022426 Region score:0.28; TSS score:0.39; Unmatched score:0.64; Average GERP:1.473687128712871 GeneName:AC011481.3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000280087; TranscriptID:ENST00000623895; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:APOE; CADD-Score:7; Consquence:missense; GeneID:ENSG00000130203; TranscriptID:ENST00000252486; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TOMM40; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000130204; TranscriptID:ENST00000252487; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001645 26252872 NONHSAT179793.1 rs429358 T N/A up to 883 european and other ancestry individuals EFO_0000249 N/A Associate Cerebral amyloid deposition (pet imaging) rs429358-T of NONHSAT179793.1 is significantly associated with the cerebral amyloid deposition (pet imaging) by using GWAS analysis in up to 883 european and other ancestry individuals(p-value = 8E-32 ;OR = 0.13). 0.4 Variations in the FRA10AC1 Fragile Site and 15q21 Are Associated with Cerebrospinal Fluid Abeta1-42 Level. genome-wide association analysis NONHSAT179793.1 lncRNA Alzheimers disease 0.599 GGAGGACGTG(T > C)GCGGCCGCCT chr19: 44908684 0.8494,0.1506 0.84440303261977573,0.15559696738022426 Region score:0.28; TSS score:0.39; Unmatched score:0.64; Average GERP:1.473687128712871 GeneName:AC011481.3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000280087; TranscriptID:ENST00000623895; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:APOE; CADD-Score:7; Consquence:missense; GeneID:ENSG00000130203; TranscriptID:ENST00000252486; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TOMM40; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000130204; TranscriptID:ENST00000252487; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001646 27863252 NONHSAT191585.1 rs741951 A N/A 172,332 european ancestry individuals EFO_0004527 N/A Associate Mean corpuscular hemoglobin rs741951-A of NONHSAT191585.1 is significantly associated with the mean corpuscular hemoglobin by using GWAS analysis in 172,332 european ancestry individuals(p-value = 3E-21 ;OR = 0.04708211). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT191585.1 lncRNA Mean corpuscular hemoglobin 0.33 GTAGTAAACC(G > A)TTTTATTGGA chr21: 44849611 0.8812,0.1188 0.86422496177370030,0.13577503822629969 Region score:0.33; TSS score:0.72; Unmatched score:0.63; Average GERP:-0.4099336633663366 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000664814; AnnoType:REGULATORY; mirSVR-Score:-1.1015; mirSVR-E:-8.96 | GeneName:PTTG1IP; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000183255; TranscriptID:ENST00000330938; AnnoType:3PRIME_UTR; mirSVR-Score:-1.1015; mirSVR-E:-8.96 | NCRV0000001647 23111177 CDKN2B-AS1 rs4977756 ? Dominant 976 poag cases from the glaucoma genes and environment (glaugen) study and 1971 cases from the national eye institute glaucoma human genetics collaboration (neighbor) consortium EFO_0004190 N/A Decreasing risk Primary open-angle glaucoma rs4977756-? of CDKN2B-AS1 and its dysfunction is significantly associated with the decreasing risk of primary open-angle glaucoma by using case-control analysis in 976 POAG cases from the Glaucoma Genes and Environment (GLAUGEN) study and 1971 cases from the National Eye Institute Glaucoma Human Genetics Collaboration (NEIGHBOR) consortium. 0.4 CDKN2B-AS1 genotype-glaucoma feature correlations in primary open-angle glaucoma patients from the United States. case-control analysis CDKN2B-AS1 lncRNA Open-angle glaucoma 0.33 TGCAATGATA(G > A)TAAGATCAGC chr9: 22068653 0.2883,0.7117 0.35168992099898063,0.64831007900101936 Region score:0.27; TSS score:0.2; Unmatched score:0.08; Average GERP:0.06998712871287134 GeneName:CDKN2B-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000240498; TranscriptID:ENST00000428597; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001648 27011381 miR-618 rs2682818 T Dominant 914 patients with ischemic stroke HP_0002140 N/A increased risk and poor prognosis Ischemic stroke rs2682818-T of hsa-mir-618 and its dysfunction is significantly associated with the increasing risk and poor prognosis of Ischemic stroke by using case-control analysis in 914 patients with ischemic stroke 0.4 Genetic Variants in MicroRNAs Predict Recurrence of Ischemic Stroke. case-control analysis hsa-mir-618 miRNA Ischemic stroke 0.33 CACAGGGTAA(A > C,T)CCTGCTTGTC chr12: 80935757 0.2424,0.7576,. 0.19708046636085626,0.80291953363914373,. Region score:0.28; TSS score:0.39; Unmatched score:0.77; Average GERP:-0.7771772277227725 GeneName:ACSS3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000111058; TranscriptID:ENST00000549175; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LIN7A; CADD-Score:2; Consquence:intron; GeneID:ENSG00000111052; TranscriptID:ENST00000552864; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR618; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000208022; TranscriptID:ENST00000385287; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000054588; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001649 28441456 NONHSAT010398.2 rs10924182 G N/A 2,187 european ancestry individuals EFO_0007841 N/A Associate Facial morphology (factor 20) rs10924182-G of NONHSAT010398.2 is significantly associated with the facial morphology (factor 20) by using GWAS analysis in 2,187 european ancestry individuals(p-value = 2E-6 ;OR = 0.3666). 0.4 Genome-wide association study of facial morphology reveals novel associations with FREM1 and PARK2. genome-wide association analysis NONHSAT010398.2 lncRNA Facial morphology measurement 0.33 GGAGCAGGCG(A > G,T)CCAGGGGTGA chr1: 236097344 0.9183,0.08167,. 0.52456039755351681,0.47543163863404689,0.00000796381243628 Region score:0.28; TSS score:0.21; Unmatched score:0.08; Average GERP:0.11900000000000002 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001650 28017375 NONHSAT164350.1 rs10849023 ? N/A up to 29,946 european ancestry individuals//up to 6150 african american individuals//15,074 east asian individuals.; 16,389 individuals of european and african american ancestry. EFO_0004526 N/A Associate Mean corpuscular volume rs10849023-? of NONHSAT164350.1 is significantly associated with the mean corpuscular volume by using GWAS analysis in up to 29,946 european ancestry individuals//up to 6150 african american individuals//15,074 east asian individuals.; 16,389 individuals of european and african american ancestry.(p-value = 1E-8 ;OR = ?). 0.4 Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis. genome-wide association analysis NONHSAT164350.1 lncRNA Mean corpuscular volume 0.33 AAAGCAACCA(C > T)GGGAATCTTT chr12: 4223312 0.7841,0.2159 0.78052529306829765,0.21947470693170234 Region score:0.42; TSS score:0.31; Unmatched score:0.12; Average GERP:-0.5879930693069305 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001651 28107422 NONHSAT169455.1 rs194741 ? N/A 91,953 european ancestry individuals (imputed to hapmap); EFO_0004623 N/A Associate Fibrinogen levels rs194741-? of NONHSAT169455.1 is significantly associated with the fibrinogen levels by using GWAS analysis in 91,953 european ancestry individuals (imputed to hapmap); (p-value = 8E-14 ;OR = 0.0092). 0.4 Comparison of HapMap and 1000 Genomes Reference Panels in a Large-Scale Genome-Wide Association Study. genome-wide association analysis NONHSAT169455.1 lncRNA Fibrinogen measurement 0.33 ATGGCAATAC(A > G)CAGGACCCTA chr14: 68821715 0.757,0.243 0.75954064729867482,0.24045935270132517 Region score:0.42; TSS score:0.57; Unmatched score:0.42; Average GERP:-0.43242871287128726 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001652 25740697 piR_002587 rs12910401 A N/A 1147 patients with CRC (cases) and 1203 cancer-free individuals EFO_0005842 N/A no significance for risk colorectal cancer rs12910401-A of piR_002587 and its dysfunction is not significantly associated with Colorectal cancer by using case-control analysis in 1147 patients with CRC (cases) and 1203 cancer-free individuals -0.4 Genetic variants in noncoding PIWI-interacting RNA and colorectal cancer risk. case-control analysis piR_002587 piRNA Colorectal cancer -0.33 GTGTTGATGT(T > C)GCCGATGATG chr15: 99799692 0.7885,0.2115 0.73690749235474006,0.26309250764525993 Region score:0.25; TSS score:0.26; Unmatched score:0.51; Average GERP:0.010019801980198023 GeneName:DNM1P46; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000182397; TranscriptID:ENST00000341853; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001653 27863252 NONHSAT180208.1 rs143558304 TA N/A 166,066 european ancestry individuals EFO_0004309 N/A Associate Platelet count rs143558304-TA of NONHSAT180208.1 is significantly associated with the platelet count by using GWAS analysis in 166,066 european ancestry individuals(p-value = 4E-61 ;OR = 0.2327818). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT180208.1 lncRNA Platelet count 0.33 ACCCAGGAAA(T > TA)ACACTAGCAA chr19: 16102887 0.9675,0.03255 0.95999777013251783,0.04000222986748216 N/A GeneName:AC008894.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000267373; TranscriptID:ENST00000587693; AnnoType:DOWNSTREAM; mirSVR-Score:-0.8771; mirSVR-E:-14.70 | GeneName:TPM4; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000167460; TranscriptID:ENST00000646974; AnnoType:3PRIME_UTR; mirSVR-Score:-0.8771; mirSVR-E:-14.70 | NCRV0000001654 27863252 NONHSAT170703.1 rs1942 G N/A 170,536 european ancestry individuals EFO_0007996 N/A Associate Eosinophil percentage of granulocytes rs1942-G of NONHSAT170703.1 is significantly associated with the eosinophil percentage of granulocytes by using GWAS analysis in 170,536 european ancestry individuals(p-value = 1E-12 ;OR = 0.02536171). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT170703.1 lncRNA Eosinophil percentage of granulocytes 0.33 AAAGAGATAA(A > G)CTGACTGCTT chr15: 41482225 0.2346,0.7654 0.33399432976554536,0.66600567023445463 Region score:0.5; TSS score:0.8; Unmatched score:0.81; Average GERP:4.4860297029702965 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000513674; AnnoType:REGULATORY; mirSVR-Score:-1.0950; mirSVR-E:-16.01 | GeneName:RTF1; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000137815; TranscriptID:ENST00000389629; AnnoType:3PRIME_UTR; mirSVR-Score:-1.0950; mirSVR-E:-16.01 | NCRV0000001655 26634245 NONHSAT097368.2 rs113228472 A N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs113228472-A of NONHSAT097368.2 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 4E-6 ;OR = 0.126). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT097368.2 lncRNA Pulmonary function measurement 0.33 GGTCCACCCT(C > A)CAGCCTCCCC chr4: 88591861 0.9892,0.01078 0.97740666411824668,0.02259333588175331 Region score:0.45; TSS score:0.5; Unmatched score:0.88; Average GERP:-1.6820485148514843 GeneName:AC098582.1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000285385; TranscriptID:ENST00000513325; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HERC3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000138641; TranscriptID:ENST00000402738; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000170590; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000729557; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001656 28441456 NONHSAT215097.1 rs2727513 T N/A 2,187 european ancestry individuals EFO_0007858 N/A Associate Facial morphology (factor 2//vertical position of orbits relative to midface) rs2727513-T of NONHSAT215097.1 is significantly associated with the facial morphology (factor 2//vertical position of orbits relative to midface) by using GWAS analysis in 2,187 european ancestry individuals(p-value = 4E-6 ;OR = 0.1564). 0.4 Genome-wide association study of facial morphology reveals novel associations with FREM1 and PARK2. genome-wide association analysis NONHSAT215097.1 lncRNA Eye morphology measurement 0.33 CTCCGGCAGC(T > C)GCCCTTGGGT chr7: 129805371 0.3083,0.6917 0.33077694954128440,0.66922305045871559 Region score:0.27; TSS score:0.44; Unmatched score:0.24; Average GERP:-0.06965148514851485 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000839260; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001657 27034373 lnc13 rs917997 T dominant 23 pairs tissue EFO_0001060 N/A decreasing risk celiac disease rs917997-T of lnc13 and its dysfunction is significantly associated with the decreasing risk of Celiac disease by using genome-wide association analysis in 23 pairs tissue 1.4 A long noncoding RNA associated with susceptibility to celiac disease. genome-wide association analysis lnc13 lncRNA Celiac disease 0.753 ACCAAGCTAT(T > A,C)CAGATGTCCA chr2: 102454108 0.3063,.,0.6937 0.21459288990825688,0.01344291539245667,0.77196419469928644 Region score:0.74; TSS score:0.78; Unmatched score:0.78; Average GERP:-0.4515574257425741 GeneName:IL18RAP; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000115607; TranscriptID:ENST00000264260; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001658 22916037 NONHSAT179794.1 rs445925 ? N/A 6,608 european ancestry individuals EFO_0004723 N/A Associate Metabolite levels rs445925-? of NONHSAT179794.1 is significantly associated with the metabolite levels by using GWAS analysis in 6,608 european ancestry individuals(p-value = 6E-42 ;OR = ?). 0.4 Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis. genome-wide association analysis NONHSAT179794.1 lncRNA Coronary artery calcification 0.33 GAAGGACAAA(G > A,C)AGCCCCCTTT chr19: 44912383 0.8502,0.1498,. 0.84554982161060142,0.15443425076452599,0.00001592762487257 Region score:0.32; TSS score:0.46; Unmatched score:0.37; Average GERP:-0.3876799999999996 GeneName:AC011481.3; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000280087; TranscriptID:ENST00000623895; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:APOC1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000130208; TranscriptID:ENST00000588750; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:APOE; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000130203; TranscriptID:ENST00000252486; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001659 21292315 NONHSAT054165.2 rs2942168 G N/A 5,333 european ancestry cases//12,019 european ancestry controls; 7,053 cases//9,007 controls EFO_0002508 N/A Associate Parkinson's disease rs2942168-G of NONHSAT054165.2 is significantly associated with the parkinson's disease by using GWAS analysis in 5,333 european ancestry cases//12,019 european ancestry controls; 7,053 cases//9,007 controls(p-value = 1E-28 ;OR = 1.27). 0.4 Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies. genome-wide association analysis NONHSAT054165.2 lncRNA Parkinson's disease 0.33 GTGTGAGGCC(G > A)AAGCTCTTTC chr17: 45637484 0.9137,0.08626 0.85098910550458715,0.14901089449541284 Region score:0.55; TSS score:0.16; Unmatched score:0.45; Average GERP:-0.8994346534653461 GeneName:LINC02210; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000204650; TranscriptID:ENST00000591271; AnnoType:INTRONIC; mirSVR-Score:-0.1620; mirSVR-E:-16.05 | GeneName:LINC02210-CRHR1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000263715; TranscriptID:ENST00000634540; AnnoType:INTRONIC; mirSVR-Score:-0.1620; mirSVR-E:-16.05 | NCRV0000001660 28199695 NONHSAT103789.2 rs56398801 T N/A 69,057 european ancestry individuals without immune related conditions EFO_0008377 N/A Associate Itch intensity from mosquito bite adjusted by bite size rs56398801-T of NONHSAT103789.2 is significantly associated with the itch intensity from mosquito bite adjusted by bite size by using GWAS analysis in 69,057 european ancestry individuals without immune related conditions(p-value = 1E-7 ;OR = 0.0577585). 0.4 GWAS of self-reported mosquito bite size, itch intensity and attractiveness to mosquitoes implicates immune-related predisposition loci. genome-wide association analysis NONHSAT103789.2 lncRNA Mosquito bite reaction itch intensity measurement 0.33 CATAGGCCTA(T > C)ATATTTACTG chr5: 132892058 0.986,0.01398 0.97628376656472986,0.02371623343527013 Region score:0.56; TSS score:0.58; Unmatched score:0.72; Average GERP:-0.16689405940594054 GeneName:AFF4; CADD-Score:2; Consquence:intron; GeneID:ENSG00000072364; TranscriptID:ENST00000265343; AnnoType:INTRONIC; mirSVR-Score:-1.2359; mirSVR-E:-16.98 | NCRV0000001661 29146194 MALAT1 rs619586 G Dominant 487 breast cancer? patients and 489 cancer-free controls in Chinese Han population EFO_0000305 N/A decreasing risk breast carcinoma rs619586-G of MALAT1 and its dysfunction is significantly associated with the decreasing risk of Breast carcinoma by using case-control analysis in 487 breast cancer? patients and 489 cancer-free controls in Chinese Han population 0.4 Association analyses of genetic variants in long non-coding RNA MALAT1 with breast cancer susceptibility and mRNA expression of MALAT1 in Chinese Han population. case-control analysis MALAT1 lncRNA Breast carcinoma 0.33 AACTATACCT(A > G)CTGTCCCTCA chr11: 65498698 0.9339,0.06609 0.96578746177370030,0.03421253822629969 Region score:0.55; TSS score:0.57; Unmatched score:0.77; Average GERP:-1.3899496039603956 GeneName:AP000769.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000270117; TranscriptID:ENST00000602344; AnnoType:UPSTREAM; mirSVR-Score:-0.0175; mirSVR-E:-22.38 | GeneName:MALAT1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000251562; TranscriptID:ENST00000534336; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0175; mirSVR-E:-22.38 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000432700; AnnoType:REGULATORY; mirSVR-Score:-0.0175; mirSVR-E:-22.38 | GeneName:RF01871; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000278217; TranscriptID:ENST00000618249; AnnoType:UPSTREAM; mirSVR-Score:-0.0175; mirSVR-E:-22.38 | NCRV0000001662 25771723 miR-107 rs2296616 C Dominant Test in 715 cases and 804 controls and validation in 940 cases and 1050 controls EFO_0000503 N/A Decreasing risk Gastric adenocarcinoma rs2296616-C of miR-107 and its dysfunction is significantly associated with the decreasing risk of gastric adenocarcinoma by using case-control analysis in test in 715 cases and 804 controls and validation in 940 cases and 1050 controls. By using the disease cell lines or tissues, the mutation of miR-107 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 A common genetic variation in the promoter of miR-107 is associated with gastric adenocarcinoma susceptibility and survival. case-control analysis; Function hsa-mir-107 miRNA Gastric adenocancer 0.593 CATTCAACGC(G > A,C)CACATCCGAG chr10: 89593209 0.2975,0.7025,. 0.37211709989806320,0.62597158511722731,0.00191131498470948 Region score:0.51; TSS score:0.29; Unmatched score:0.51; Average GERP:3.0697495049504924 GeneName:MIR107; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000198997; TranscriptID:ENST00000362127; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PANK1; CADD-Score:5; Consquence:synonymous; GeneID:ENSG00000152782; TranscriptID:ENST00000307534; AnnoType:SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PANK1; CADD-Score:7; Consquence:missense; GeneID:ENSG00000152782; TranscriptID:ENST00000307534; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001663 22778062 SNORD115-6 rs72546373 T N/a N/a function N/A Not significant changes in the structure Function rs72546373-T of SNORD115-6 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD115-6 snoRNA Function -0.049 ATAGGATTAC(G > A,C,T)CTGAGGCCCA chr15: 25180569 0.9888,.,.,0.01118 0.99177338175331294,0.00000796381243628,.,0.00821865443425076 Region score:0.18; TSS score:0.11; Unmatched score:0.5; Average GERP:-0.3081374257425743 GeneName:SNHG14; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000224078; TranscriptID:ENST00000447911; AnnoType:INTRONIC; mirSVR-Score:-0.0297; mirSVR-E:-17.97 | GeneName:SNORD115-4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000200680; TranscriptID:ENST00000363810; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0297; mirSVR-E:-17.97 | GeneName:SNORD115-5; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000200503; TranscriptID:ENST00000363633; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0297; mirSVR-E:-17.97 | GeneName:SNORD115-6; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000200812; TranscriptID:ENST00000363942; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0297; mirSVR-E:-17.97 | GeneName:SNORD115-7; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000278089; TranscriptID:ENST00000365306; AnnoType:UPSTREAM; mirSVR-Score:-0.0297; mirSVR-E:-17.97 | GeneName:SNORD115-8; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000200726; TranscriptID:ENST00000363856; AnnoType:UPSTREAM; mirSVR-Score:-0.0297; mirSVR-E:-17.97 | NCRV0000001664 22778062 SNORD115-4 rs72546369 A N/A N/A function N/A not significant changes in the structure function rs72546369-A of SNORD115-4 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in nan -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD115-4 snoRNA function -0.049 ATGATGAGAA(C > A)TTTATATTGT chr15: 25176848 0.992,0.007987 0.98935238277268093,0.01064761722731906 Region score:0.53; TSS score:0.14; Unmatched score:0.53; Average GERP:0.05437029702970304 GeneName:SNHG14; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000224078; TranscriptID:ENST00000447911; AnnoType:UPSTREAM; mirSVR-Score:-0.4672; mirSVR-E:-6.47 | GeneName:SNORD115-2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000199712; TranscriptID:ENST00000362842; AnnoType:DOWNSTREAM; mirSVR-Score:-0.4672; mirSVR-E:-6.47 | GeneName:SNORD115-3; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000199970; TranscriptID:ENST00000363100; AnnoType:DOWNSTREAM; mirSVR-Score:-0.4672; mirSVR-E:-6.47 | GeneName:SNORD115-4; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000200680; TranscriptID:ENST00000363810; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.4672; mirSVR-E:-6.47 | GeneName:SNORD115-5; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000200503; TranscriptID:ENST00000363633; AnnoType:UPSTREAM; mirSVR-Score:-0.4672; mirSVR-E:-6.47 | GeneName:SNORD115-6; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000200812; TranscriptID:ENST00000363942; AnnoType:UPSTREAM; mirSVR-Score:-0.4672; mirSVR-E:-6.47 | NCRV0000001665 25445501 PCA3 rs921843579 (TAAA)n N/A 120 PCa cases and 120 benign prostatic hypertrophy (BPH) cases in the Chinese population EFO_0001663 N/A increasing risk prostate carcinoma rs921843579-(TAAA)n of PCA3 and its dysfunction is significantly associated with the increasing risk of Prostate carcinoma by using case-control analysis in 120 PCa cases and 120 benign prostatic hypertrophy (BPH) cases in the Chinese population 0.4 Long noncoding RNA PCA3 gene promoter region is related to the risk of prostate cancer on Chinese males. case-control analysis PCA3 lncRNA Prostate carcinoma 0.33 AACAAACAAA(CAAATAAATAAATAAAT > C)AAATAAATAA chr9: 76764237 0 0.99999203618756371,0.00000796381243628 - GeneName:PCA3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000225937; TranscriptID:ENST00000412654; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PRUNE2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000106772; TranscriptID:ENST00000376718; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001666 27863252 NONHSAT029939.2 rs59883166 AT N/A 172,332 european ancestry individuals EFO_0004527 N/A Associate Mean corpuscular hemoglobin rs59883166-AT of NONHSAT029939.2 is significantly associated with the mean corpuscular hemoglobin by using GWAS analysis in 172,332 european ancestry individuals(p-value = 6E-17 ;OR = 0.04805726). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT029939.2 lncRNA Mean corpuscular hemoglobin 0.33 CACCCAGCTA(A > AT,ATT)TTTTTTTTTT chr12: 93364542 0.8502,0.1498,. 0.89361142966360856,0.10624522171253822,0.00014334862385321 N/A GeneName:AC124947.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000257252; TranscriptID:ENST00000552835; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001667 27863252 NONHSAT105211.2 rs2594836 A N/A 172,435 european ancestry individuals EFO_0004308 N/A Associate White blood cell count rs2594836-A of NONHSAT105211.2 is significantly associated with the white blood cell count by using GWAS analysis in 172,435 european ancestry individuals(p-value = 1E-25 ;OR = 0.0425945). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT105211.2 lncRNA Leukocyte count 0.33 CAAAATGGAG(G > A)TCTTAATGAC chr5: 173778315 0.1462,0.8538 0.22327344546381243,0.77672655453618756 Region score:0.32; TSS score:0.4; Unmatched score:0.27; Average GERP:-0.47360594059405936 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000778310; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001668 26634245 NONHSAT047577.2 rs16969968NR ? N/A 6,659 european ancestry current and former smoker individuals EFO_0003892 N/A Associate Pre bronchodilator fev1 rs16969968NR-? of NONHSAT047577.2 is significantly associated with the pre bronchodilator fev1 by using GWAS analysis in 6,659 european ancestry current and former smoker individuals(p-value = 2E-9 ;OR = 0.07994). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT047577.2 lncRNA Pulmonary function measurement 0.33 N/A N/A N/A N/A N/A N/A NCRV0000001669 27951730 H19 rs3741216 T N/A 313 AML patients EFO_0000222 N/A no significance for prognosis acute myeloid leukemia rs3741216-T of H19 and its dysfunction is not significantly associated with Acute myeloid leukemia by using analysis of sequence variation in 313 AML patients -0.4 Long non-coding RNA GAS5 polymorphism predicts a poor prognosis of acute myeloid leukemia in Chinese patients via affecting hematopoietic reconstitution. analysis of sequence variation H19 lncRNA Acute myeloid leukemia -0.33 TAGTGCAAAT(T > A)AAATTCAGAA chr11: 1995487 0.9397,0.0603 1 Region score:0.2; TSS score:0.55; Unmatched score:0.8; Average GERP:0.7532663366336626 GeneName:H19; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000130600; TranscriptID:ENST00000414790; AnnoType:NONCODING_CHANGE; mirSVR-Score:-1.2884; mirSVR-E:-8.26 | GeneName:LINC01219; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000232987; TranscriptID:ENST00000418612; AnnoType:DOWNSTREAM; mirSVR-Score:-1.2884; mirSVR-E:-8.26 | GeneName:MIR675; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000284010; TranscriptID:ENST00000390168; AnnoType:DOWNSTREAM; mirSVR-Score:-1.2884; mirSVR-E:-8.26 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000035875; AnnoType:REGULATORY; mirSVR-Score:-1.2884; mirSVR-E:-8.26 | GeneName:RF01972; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000275266; TranscriptID:ENST00000617997; AnnoType:UPSTREAM; mirSVR-Score:-1.2884; mirSVR-E:-8.26 | GeneName:RF01973; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000274866; TranscriptID:ENST00000620857; AnnoType:UPSTREAM; mirSVR-Score:-1.2884; mirSVR-E:-8.26 | NCRV0000001670 28270201 NONHSAT200957.1 rs62412107 A N/A 16,347 british ancestry from 6863 families. EFO_0003884 N/A Associate Creatinine levels rs62412107-A of NONHSAT200957.1 is significantly associated with the creatinine levels by using GWAS analysis in 16,347 british ancestry from 6863 families.(p-value = 2E-8 ;OR = 0.15169783). 0.4 Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants. genome-wide association analysis NONHSAT200957.1 lncRNA Chronic kidney disease 0.33 GCACGAGAAC(G > A,T)GGCGTTATTG chr4: 9540731 0.9289,0.07109,. 0.93245890672782874,0.06753312945973496,0.00000796381243628 Region score:0.39; TSS score:0.13; Unmatched score:0.05; Average GERP:0.2442356435643564 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000717032; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001671 27702941 NONHSAT214396.1 rs10275488 T N/A 9,054 european ancestry individuals; 822 european ancestry individuals EFO_0007872 N/A Associate Caffeine metabolism (plasma 1,3,7-trimethylxanthine (caffeine) level) rs10275488-T of NONHSAT214396.1 is significantly associated with the caffeine metabolism (plasma 1,3,7-trimethylxanthine (caffeine) level) by using GWAS analysis in 9,054 european ancestry individuals; 822 european ancestry individuals(p-value = 5E-9 ;OR = 5.85). 0.4 Genome-wide association study of caffeine metabolites provides new insights to caffeine metabolism and dietary caffeine-consumption behavior. genome-wide association analysis NONHSAT214396.1 lncRNA Caffeine metabolite measurement 0.33 GCTCCGTCTC(C > T)GAGATAAATG chr7: 17264154 0.7993,0.2007 0.85290838430173292,0.14709161569826707 Region score:0.32; TSS score:0.08; Unmatched score:0.03; Average GERP:-0.5481643564356432 GeneName:AC073332.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000237773; TranscriptID:ENST00000643090; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AHR; CADD-Score:2; Consquence:intron; GeneID:ENSG00000106546; TranscriptID:ENST00000642825; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001672 24978643 MIR146A rs2910164 G Dominant 350 esrd patients and 350 age-matched, sex-matched, and ethnically matched controls. EFO_0003086 N/A Increasing risk End-stage renal disease rs2910164-G of MIR146A and its dysfunction is significantly associated with the increasing risk of end-stage renal disease by using case-control analysis in 350 ESRD patients and 350 age-matched, sex-matched, and ethnically matched controls 0.4 Genetic variants of MicroRNA-related genes in susceptibility and prognosis of end-stage renal disease and renal allograft outcome among north Indians. case-control analysis hsa-mir-146a miRNA Kidney disease 0.33 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 N/A 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001673 28441456 NONHSAT156517.1 rs79209987 G N/A 2,187 european ancestry individuals EFO_0007843 N/A Associate Facial morphology (factor 21//depth of nasal alae) rs79209987-G of NONHSAT156517.1 is significantly associated with the facial morphology (factor 21//depth of nasal alae) by using GWAS analysis in 2,187 european ancestry individuals(p-value = 3E-6 ;OR = 0.3078). 0.4 Genome-wide association study of facial morphology reveals novel associations with FREM1 and PARK2. genome-wide association analysis NONHSAT156517.1 lncRNA Nose morphology measurement 0.33 AACAGGGCTC(A > G)TGGAAGCCTC chr10: 3289680 0.9639,0.03614 0.95111811926605504,0.04888188073394495 Region score:0.12; TSS score:0.01; Unmatched score:0; Average GERP:0.03927722772277226 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001674 24816252 NONHSAT067873.2 rs2576452 T N/A up to 5,591 european ancestry individuals; up to 1,767 european ancestry individuals EFO_0005664 N/A Associate Blood metabolite ratios rs2576452-T of NONHSAT067873.2 is significantly associated with the blood metabolite ratios by using GWAS analysis in up to 5,591 european ancestry individuals; up to 1,767 european ancestry individuals(p-value = 2E-29 ;OR = 0.028). 0.4 An atlas of genetic influences on human blood metabolites. genome-wide association analysis NONHSAT067873.2 lncRNA Blood metabolite measurement 0.33 GTCCAGGCTT(T > C)AACTTCCTTT chr19: 54172738 0.6062,0.3938 0.38947024719673802,0.61052975280326197 Region score:0.36; TSS score:0.34; Unmatched score:0.89; Average GERP:-1.8058811881188126 GeneName:MBOAT7; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000125505; TranscriptID:ENST00000245615; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000593622; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000593624; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TMC4; CADD-Score:2; Consquence:intron; GeneID:ENSG00000167608; TranscriptID:ENST00000617472; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001675 22778062 SNORD100 rs9389034 T N/a N/a function N/A Not significant changes in the structure Function rs9389034-T of SNORD100 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD100 snoRNA Function -0.049 ACCCTTCTGA(T > C)TACAGCCACC chr6: 132816871 0.5517,0.4483 0.56518380479102956,0.43481619520897043 Region score:0.39; TSS score:0.21; Unmatched score:0.61; Average GERP:0.8659859306930687 GeneName:RPS12; CADD-Score:2; Consquence:intron; GeneID:ENSG00000112306; TranscriptID:ENST00000230050; AnnoType:INTRONIC; mirSVR-Score:-0.3319; mirSVR-E:-15.64 | GeneName:SLC18B1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000146409; TranscriptID:ENST00000650278; AnnoType:UPSTREAM; mirSVR-Score:-0.3319; mirSVR-E:-15.64 | GeneName:SNORA33; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000200534; TranscriptID:ENST00000363664; AnnoType:UPSTREAM; mirSVR-Score:-0.3319; mirSVR-E:-15.64 | GeneName:SNORD100; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000221500; TranscriptID:ENST00000408573; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.3319; mirSVR-E:-15.64 | GeneName:SNORD101; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000206754; TranscriptID:ENST00000384027; AnnoType:DOWNSTREAM; mirSVR-Score:-0.3319; mirSVR-E:-15.64 | NCRV0000001676 25614447 hsa-mir-4513 rs2168518 A N/A 576 patients with lung cancer in a southern Chinese population, and the significant results were validated in two additional cohorts of 346 and 368 patients, respectively EFO_0001071 N/A no significance for risk lung carcinoma rs2168518-A of hsa-mir-4513 and its dysfunction is not significantly associated with Lung carcinoma by using case-control analysis in 576 patients with lung cancer in a southern Chinese population, and the significant results were validated in two additional cohorts of 346 and 368 patients, respectively -0.4 Sequence Variation in Mature MicroRNA-499 Confers Unfavorable Prognosis of Lung Cancer Patients Treated with Platinum-Based Chemotherapy. case-control analysis hsa-mir-4513 miRNA Lung carcinoma -0.33 GCCTCCAGCC(G > A)TCAGTCTCCC chr15: 74788737 0.7554,0.2446 0.57552083333333333,0.42447916666666666 Region score:0.44; TSS score:0.5; Unmatched score:0.72; Average GERP:-0.038679207920792144 GeneName:CSK; CADD-Score:2; Consquence:intron; GeneID:ENSG00000103653; TranscriptID:ENST00000220003; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR4513; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000264386; TranscriptID:ENST00000581077; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000079299; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000521422; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001677 24024966 NONHSAT058741.2 rs8097810 A N/A up to 4,032 european ancestry individuals EFO_0000649 N/A Associate Periodontitis (mean pal) rs8097810-A of NONHSAT058741.2 is significantly associated with the periodontitis (mean pal) by using GWAS analysis in up to 4,032 european ancestry individuals(p-value = 4E-6 ;OR = 0.105). 0.4 Genome-wide association study of chronic periodontitis in a general German population. genome-wide association analysis NONHSAT058741.2 lncRNA Periodontitis 0.33 AACCATCAAC(A > G)CCAAGATAAA chr18: 26205684 0.8498,0.1502 0.87703873598369011,0.12296126401630988 Region score:0.38; TSS score:0.23; Unmatched score:0.46; Average GERP:0.10779207920792078 GeneName:NPM1P2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000266227; TranscriptID:ENST00000578162; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001678 23251661 NONHSAT060537.2 rs12977510 A N/A 815 hispanic children from 263 families EFO_0004626 N/A Associate Obesity-related traits rs12977510-A of NONHSAT060537.2 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 6E-6 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. genome-wide association analysis NONHSAT060537.2 lncRNA Igfbp-3 measurement 0.33 CTGCGGCTGG(G > T)GGACTGGGGC chr19: 3613474 N/A RS=12977510;RSPOS=3613474;dbSNPBuildID=121;SSR=0;SAO=0;VP=0x050020040a05000402020100;GENEINFO=CACTIN-AS1:404665|CACTIN:58509;WGT=1;VC=SNV;PM;NSM;REF;R3;ASP;HD;MTP Region score:0.2; TSS score:0.27; Unmatched score:0.57; Average GERP:0.5845435643564357 GeneName:CACTIN-AS1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000226800; TranscriptID:ENST00000592274; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CACTIN; CADD-Score:7; Consquence:missense; GeneID:ENSG00000105298; TranscriptID:ENST00000429344; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001679 21570397 NONHSAT108925.2 rs9274407 ? N/A 201 european ancestry cases//532 european ancestry controls EFO_0004228 N/A Associate Drug-induced liver injury (amoxicillin-clavulanate) rs9274407-? of NONHSAT108925.2 is significantly associated with the drug-induced liver injury (amoxicillin-clavulanate) by using GWAS analysis in 201 european ancestry cases//532 european ancestry controls(p-value = 5E-14 ;OR = 3.1). 0.4 Susceptibility to amoxicillin-clavulanate-induced liver injury is influenced by multiple HLA class I and II alleles. genome-wide association analysis NONHSAT108925.2 lncRNA Drug-induced liver injury 0.33 CTTAAACTGG(A > C,T)ACACGAAATC chr6: 32665055 0.2406,.,0.7594 0.22200719928644240,0.00491367227319062,0.77307912844036697 Region score:0.3; TSS score:0.49; Unmatched score:0.75; Average GERP:0.8829881188118809 GeneName:HLA-DQB1-AS1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000223534; TranscriptID:ENST00000419852; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HLA-DQB1; CADD-Score:7; Consquence:missense; GeneID:ENSG00000179344; TranscriptID:ENST00000374943; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000195701; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001680 28753643 NONHSAT215498.1 rs328 G N/A 22,156 european//asian//african//arabic//native american//pacific islander and other ancestry EFO_0000319 N/A Associate Lipoprotein phospholipase a2 activity in cardiovascular disease rs328-G of NONHSAT215498.1 is significantly associated with the lipoprotein phospholipase a2 activity in cardiovascular disease by using GWAS analysis in 22,156 european//asian//african//arabic//native american//pacific islander and other ancestry(p-value = 2E-6 ;OR = 3.7). 0.4 Pharmacogenetic meta-analysis of baseline risk factors, pharmacodynamic, efficacy and tolerability endpoints from two large global cardiovascular outcomes trials for darapladib. genome-wide association analysis NONHSAT215498.1 lncRNA Cardiovascular disease 0.599 AATAAGAAGT(C > G)AGGCTGGTGA chr8: 19962213 0.9075,0.09245 0.91028765290519877,0.08971234709480122 Region score:0.22; TSS score:0.36; Unmatched score:0.45; Average GERP:1.478865346534653 GeneName:LPL; CADD-Score:8; Consquence:stop_gained; GeneID:ENSG00000175445; TranscriptID:ENST00000311322; AnnoType:STOP_GAINED; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001680 22171074 NONHSAT215498.1 rs328 ? N/A 1,999 han chinese ancestry male individuals; 1,496 han chinese ancestry male individuals EFO_0000319 N/A Associate Triglycerides rs328-? of NONHSAT215498.1 is significantly associated with the triglycerides by using GWAS analysis in 1,999 han chinese ancestry male individuals; 1,496 han chinese ancestry male individuals(p-value = 1E-9 ;OR = ?). 0.4 A genome-wide association and gene-environment interaction study for serum triglycerides levels in a healthy Chinese male population. genome-wide association analysis NONHSAT215498.1 lncRNA Cardiovascular disease 0.599 AATAAGAAGT(C > G)AGGCTGGTGA chr8: 19962213 0.9075,0.09245 0.91028765290519877,0.08971234709480122 Region score:0.22; TSS score:0.36; Unmatched score:0.45; Average GERP:1.478865346534653 GeneName:LPL; CADD-Score:8; Consquence:stop_gained; GeneID:ENSG00000175445; TranscriptID:ENST00000311322; AnnoType:STOP_GAINED; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001680 24386095 NONHSAT215498.1 rs328 G N/A 3,451 han chinese ancestry individuals; 8,830 han chinese ancestry individuals EFO_0000319 N/A Associate Lipid traits rs328-G of NONHSAT215498.1 is significantly associated with the lipid traits by using GWAS analysis in 3,451 han chinese ancestry individuals; 8,830 han chinese ancestry individuals(p-value = 3E-10 ;OR = 0.071). 0.4 A genome wide association study identifies common variants associated with lipid levels in the Chinese population. genome-wide association analysis NONHSAT215498.1 lncRNA Cardiovascular disease 0.599 AATAAGAAGT(C > G)AGGCTGGTGA chr8: 19962213 0.9075,0.09245 0.91028765290519877,0.08971234709480122 Region score:0.22; TSS score:0.36; Unmatched score:0.45; Average GERP:1.478865346534653 GeneName:LPL; CADD-Score:8; Consquence:stop_gained; GeneID:ENSG00000175445; TranscriptID:ENST00000311322; AnnoType:STOP_GAINED; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001680 18193044 NONHSAT215498.1 rs328 G N/A 2,758 individuals; 18,544 individuals EFO_0000319 N/A Associate Hdl cholesterol rs328-G of NONHSAT215498.1 is significantly associated with the hdl cholesterol by using GWAS analysis in 2,758 individuals; 18,544 individuals(p-value = 9E-23 ;OR = 0.17). 0.4 Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans. genome-wide association analysis NONHSAT215498.1 lncRNA Cardiovascular disease 0.599 AATAAGAAGT(C > G)AGGCTGGTGA chr8: 19962213 0.9075,0.09245 0.91028765290519877,0.08971234709480122 Region score:0.22; TSS score:0.36; Unmatched score:0.45; Average GERP:1.478865346534653 GeneName:LPL; CADD-Score:8; Consquence:stop_gained; GeneID:ENSG00000175445; TranscriptID:ENST00000311322; AnnoType:STOP_GAINED; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001680 26763881 NONHSAT215498.1 rs328 G N/A 2,994 japanese ancestry individuals; 6,805 korean ancestry individuals EFO_0000319 N/A Associate Hdl cholesterol levels rs328-G of NONHSAT215498.1 is significantly associated with the hdl cholesterol levels by using GWAS analysis in 2,994 japanese ancestry individuals; 6,805 korean ancestry individuals(p-value = 6E-7 ;OR = 0.24). 0.4 Genome-wide association study of serum lipids confirms previously reported associations as well as new associations of common SNPs within PCSK7 gene with triglyceride. genome-wide association analysis NONHSAT215498.1 lncRNA Cardiovascular disease 0.599 AATAAGAAGT(C > G)AGGCTGGTGA chr8: 19962213 0.9075,0.09245 0.91028765290519877,0.08971234709480122 Region score:0.22; TSS score:0.36; Unmatched score:0.45; Average GERP:1.478865346534653 GeneName:LPL; CADD-Score:8; Consquence:stop_gained; GeneID:ENSG00000175445; TranscriptID:ENST00000311322; AnnoType:STOP_GAINED; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001681 26242244 NONHSAT219096.1 rs279910 ? N/A 128 han chinese ancestry cases EFO_0007700 N/A Associate Exploratory eye movement dysfunction in schizophrenia (responsive search score) rs279910-? of NONHSAT219096.1 is significantly associated with the exploratory eye movement dysfunction in schizophrenia (responsive search score) by using GWAS analysis in 128 han chinese ancestry cases(p-value = 3E-6 ;OR = 1.571). 0.4 Association of chromosome 5q21.3 polymorphisms with the exploratory eye movement dysfunction in schizophrenia. genome-wide association analysis NONHSAT219096.1 lncRNA Exploratory eye movement measurement 0.33 AGGGCTTCAA(G > A)GGAAACACAC chr9: 975112 0.3528,0.6472 0.35078204638124362,0.64921795361875637 Region score:0.42; TSS score:0.63; Unmatched score:0.74; Average GERP:-1.072126 GeneName:DMRT3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000064218; TranscriptID:ENST00000190165; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000873783; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001682 25224454 NONHSAT092201.2 rs8177253 T N/A 2,347 african american individuals; 329 african american individuals EFO_0006334 N/A Associate Iron status biomarkers rs8177253-T of NONHSAT092201.2 is significantly associated with the iron status biomarkers by using GWAS analysis in 2,347 african american individuals; 329 african american individuals(p-value = 2E-47 ;OR = 19.86). 0.4 Genome-wide admixture and association study of serum iron, ferritin, transferrin saturation and total iron binding capacity in African Americans. genome-wide association analysis NONHSAT092201.2 lncRNA Total iron binding capacity 0.33 CCCCAGACTT(C > T)AGTGGATCAG chr3: 133761348 0.651,0.349 0.68220406472986748,0.31779593527013251 Region score:0.1; TSS score:0.07; Unmatched score:0.33; Average GERP:0.01122039603960399 GeneName:AC080128.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000244062; TranscriptID:ENST00000474389; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TF; CADD-Score:2; Consquence:intron; GeneID:ENSG00000091513; TranscriptID:ENST00000402696; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001683 22446963 NONHSAT172778.1 rs7404928 T N/A 4,074 japanese ancestry cases//16,891 japanese ancestry controls; 5,277 japanese ancestry cases//21,684 japanese ancestry controls EFO_0000685 N/A Associate Rheumatoid arthritis rs7404928-T of NONHSAT172778.1 is significantly associated with the rheumatoid arthritis by using GWAS analysis in 4,074 japanese ancestry cases//16,891 japanese ancestry controls; 5,277 japanese ancestry cases//21,684 japanese ancestry controls(p-value = 4E-6 ;OR = 1.08). 0.4 Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population. genome-wide association analysis NONHSAT172778.1 lncRNA Rheumatoid arthritis 0.33 GTAAAGCCCA(T > C)GGGTGTTCCC chr16: 23877519 0.737,0.263 0.78110665137614678,0.21889334862385321 Region score:0.36; TSS score:0.33; Unmatched score:0.23; Average GERP:-0.3476099009900989 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000534033; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PRKCB; CADD-Score:2; Consquence:intron; GeneID:ENSG00000166501; TranscriptID:ENST00000643927; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001684 25469926 NONHSAT179016.1 rs12165098 ? N/A 47,180 european ancestry individuals; 4,771 african american individuals EFO_0008568 N/A Associate Sleep duration rs12165098-? of NONHSAT179016.1 is significantly associated with the sleep duration by using GWAS analysis in 47,180 european ancestry individuals; 4,771 african american individuals(p-value = 5E-6 ;OR = 3.18). 0.4 Novel loci associated with usual sleep duration: the CHARGE Consortium Genome-Wide Association Study. genome-wide association analysis NONHSAT179016.1 lncRNA Sleep disorder 0.33 TATCGAAGTA(G > A)TCACCATTTT chr18: 39100535 0.8618,0.1382 0.90229994903160040,0.09770005096839959 Region score:0.48; TSS score:0.62; Unmatched score:0.38; Average GERP:5.015702970297037 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001685 19060906 NONHSAT031256.2 rs2650000 A N/A 19,840 european ancestry individuals; up to 20,623 european ancestry individuals EFO_0000319 N/A Associate Ldl cholesterol rs2650000-A of NONHSAT031256.2 is significantly associated with the ldl cholesterol by using GWAS analysis in 19,840 european ancestry individuals; up to 20,623 european ancestry individuals(p-value = 2E-8 ;OR = 0.07). 0.4 Common variants at 30 loci contribute to polygenic dyslipidemia. genome-wide association analysis NONHSAT031256.2 lncRNA Cardiovascular disease 0.33 GTCTCAAATT(A > C)TCTGACAACT chr12: 120951159 0.3087,0.6913 0.29076675586136595,0.70923324413863404 Region score:0.32; TSS score:0.13; Unmatched score:0.16; Average GERP:-0.4109386138613862 GeneName:HNF1A-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000241388; TranscriptID:ENST00000619441; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001686 19557197 NONHSAT168677.1 rs10146997 G N/A 31,373 european ancestry individuals; 38,641 individuals EFO_0004342 N/A Associate Waist circumference rs10146997-G of NONHSAT168677.1 is significantly associated with the waist circumference by using GWAS analysis in 31,373 european ancestry individuals; 38,641 individuals(p-value = 5E-8 ;OR = 0.65). 0.4 NRXN3 is a novel locus for waist circumference: a genome-wide association study from the CHARGE Consortium. genome-wide association analysis NONHSAT168677.1 lncRNA Waist circumference 0.33 GTAGTTTCCA(A > G)TAGGAAGATT chr14: 79478819 0.7999,0.2001 0.75693648063200815,0.24306351936799184 Region score:0.29; TSS score:0.32; Unmatched score:0.06; Average GERP:-0.22954495049504953 GeneName:NRXN3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000021645; TranscriptID:ENST00000635466; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001687 22936669 NONHSAT077462.2 rs3792109 A N/A 1,277 european ancestry cases//1,488 european ancestry controls; 1,365 european ancestry cases//1,396 european ancestry controls EFO_0000384 N/A Associate Crohn's disease rs3792109-A of NONHSAT077462.2 is significantly associated with the crohn's disease by using GWAS analysis in 1,277 european ancestry cases//1,488 european ancestry controls; 1,365 european ancestry cases//1,396 european ancestry controls(p-value = 5E-9 ;OR = 1.38). 0.4 A genome-wide association study on a southern European population identifies a new Crohn's disease susceptibility locus at RBX1-EP300. genome-wide association analysis NONHSAT077462.2 lncRNA Crohn's disease 0.451 TGAATGTCAC(G > A)GTCCCTTTGT chr2: 233275771 0.627,0.373 0.58860537716615698,0.41139462283384301 Region score:0.67; TSS score:0.22; Unmatched score:0.57; Average GERP:2.3113227722772294 GeneName:ATG16L1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000085978; TranscriptID:ENST00000392017; AnnoType:INTRONIC; mirSVR-Score:-1.1010; mirSVR-E:-25.88 | GeneName:SCARNA5; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000252010; TranscriptID:ENST00000516201; AnnoType:NONCODING_CHANGE; mirSVR-Score:-1.1010; mirSVR-E:-25.88 | NCRV0000001687 21102463 NONHSAT077462.2 rs3792109 A N/A 6,333 european ancestry cases//15,056 european ancestry controls; 15,694 european ancestry cases//14,026 european ancestry controls//414 european ancestry trios EFO_0000384 N/A Associate Crohn's disease rs3792109-A of NONHSAT077462.2 is significantly associated with the crohn's disease by using GWAS analysis in 6,333 european ancestry cases//15,056 european ancestry controls; 15,694 european ancestry cases//14,026 european ancestry controls//414 european ancestry trios(p-value = 7E-41 ;OR = 1.34). 0.4 Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. genome-wide association analysis NONHSAT077462.2 lncRNA Crohn's disease 0.451 TGAATGTCAC(G > A)GTCCCTTTGT chr2: 233275771 0.627,0.373 0.58860537716615698,0.41139462283384301 Region score:0.67; TSS score:0.22; Unmatched score:0.57; Average GERP:2.3113227722772294 GeneName:ATG16L1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000085978; TranscriptID:ENST00000392017; AnnoType:INTRONIC; mirSVR-Score:-1.1010; mirSVR-E:-25.88 | GeneName:SCARNA5; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000252010; TranscriptID:ENST00000516201; AnnoType:NONCODING_CHANGE; mirSVR-Score:-1.1010; mirSVR-E:-25.88 | NCRV0000001688 22593246 miRNA-423 rs6505162 C N/A 193 Caucasian women with breast cancer, and an equal number of controls EFO_0000305 N/A decreasing risk breast carcinoma rs6505162-C of hsa-mir-423 and its dysfunction is significantly associated with the decreasing risk of Breast carcinoma by using case-control analysis in 193 Caucasian women with breast cancer, and an equal number of controls 0.4 A genetic variant located in miR-423 is associated with reduced breast cancer risk. case-control analysis hsa-mir-423 miRNA Breast carcinoma 0.52 TTGCTTCCTA(A > C,T)CCCGCGCTTG chr17: 30117165 0.5022,0.4978,. 0.57055937818552497,0.42940876656472986,0.00003185524974515 Region score:0.43; TSS score:0.32; Unmatched score:0.93; Average GERP:3.269841584158416 GeneName:AC104984.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000265394; TranscriptID:ENST00000582938; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC104984.5; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000266919; TranscriptID:ENST00000586878; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3184; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284399; TranscriptID:ENST00000637796; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR423; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000283935; TranscriptID:ENST00000362201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000092957; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NSRP1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000126653; TranscriptID:ENST00000247026; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001688 27421647 pre-miR-423 rs6505162 A Recessive 440 breast cancer cases and 807 controls EFO_0000305 N/A Increasing risk Breast cancer rs6505162-A of pre-miR-423 and its dysfunction is significantly associated with the increasing risk of breast cancer by using case-control analysis in 440 breast cancer cases and 807 controls. 0.4 Association of single nucleotide polymorphisms in Pre-miR-27a, Pre-miR-196a2, Pre-miR-423, miR-608 and Pre-miR-618 with breast cancer susceptibility in a South American population. case-control analysis hsa-mir-423 miRNA Breast cancer 0.52 TTGCTTCCTA(A > C,T)CCCGCGCTTG chr17: 30117165 0.5022,0.4978,. 0.57055937818552497,0.42940876656472986,0.00003185524974515 Region score:0.43; TSS score:0.32; Unmatched score:0.93; Average GERP:3.269841584158416 GeneName:AC104984.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000265394; TranscriptID:ENST00000582938; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC104984.5; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000266919; TranscriptID:ENST00000586878; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3184; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284399; TranscriptID:ENST00000637796; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR423; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000283935; TranscriptID:ENST00000362201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000092957; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NSRP1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000126653; TranscriptID:ENST00000247026; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001688 25663458 miR-423 rs6505162 A N/A 5 matched cell lines (breast cancer cell lines and their corresponding peripheral blood cell lines) and 114 matched clinical specimens (clinical breast carcinoma specimens and their corresponding normal tissues) EFO_0000305 N/A increasing risk breast carcinoma rs6505162-A of hsa-mir-423 and its dysfunction is significantly associated with the increasing risk of Breast carcinoma by using case-control analysis in 5 matched cell lines (breast cancer cell lines and their corresponding peripheral blood cell lines) and 114 matched clinical specimens (clinical breast carcinoma specimens and their corresponding normal tissues) 0.4 Genetic analysis and preliminary function study of miR-423 in breast cancer. case-control analysis hsa-mir-423 miRNA Breast carcinoma 0.52 TTGCTTCCTA(A > C,T)CCCGCGCTTG chr17: 30117165 0.5022,0.4978,. 0.57055937818552497,0.42940876656472986,0.00003185524974515 Region score:0.43; TSS score:0.32; Unmatched score:0.93; Average GERP:3.269841584158416 GeneName:AC104984.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000265394; TranscriptID:ENST00000582938; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC104984.5; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000266919; TranscriptID:ENST00000586878; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3184; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284399; TranscriptID:ENST00000637796; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR423; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000283935; TranscriptID:ENST00000362201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000092957; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NSRP1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000126653; TranscriptID:ENST00000247026; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001689 28928442 NONHSAT067101.2 rs681343 C N/A 46,936 european ancestry cases//74,874 european ancestry controls EFO_0007904 N/A Associate Childhood ear infection rs681343-C of NONHSAT067101.2 is significantly associated with the childhood ear infection by using GWAS analysis in 46,936 european ancestry cases//74,874 european ancestry controls(p-value = 4E-30 ;OR = 1.11). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. genome-wide association analysis NONHSAT067101.2 lncRNA Susceptibility to childhood ear infection measurement 0.451 CCACACTGTA(C > A,T)GCCCTGGCCA chr19: 48703205 0.6783,.,0.3217 0.56128950050968399,0.00000796381243628,0.43870253567787971 Region score:0.19; TSS score:0.28; Unmatched score:0.41; Average GERP:1.4441435643564355 GeneName:FUT2; CADD-Score:5; Consquence:synonymous; GeneID:ENSG00000176920; TranscriptID:ENST00000425340; AnnoType:SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:FUT2; CADD-Score:8; Consquence:stop_gained; GeneID:ENSG00000176920; TranscriptID:ENST00000425340; AnnoType:STOP_GAINED; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001689 27182965 NONHSAT067101.2 rs681343 ? N/A 46,936 european ancestry cases//74,874 european ancestry controls EFO_0007904 N/A Associate Childhood ear infection rs681343-? of NONHSAT067101.2 is significantly associated with the childhood ear infection by using GWAS analysis in 46,936 european ancestry cases//74,874 european ancestry controls(p-value = 4E-30 ;OR = 1.1049724). 0.4 Detection and interpretation of shared genetic influences on 42 human traits. genome-wide association analysis NONHSAT067101.2 lncRNA Susceptibility to childhood ear infection measurement 0.451 CCACACTGTA(C > A,T)GCCCTGGCCA chr19: 48703205 0.6783,.,0.3217 0.56128950050968399,0.00000796381243628,0.43870253567787971 Region score:0.19; TSS score:0.28; Unmatched score:0.41; Average GERP:1.4441435643564355 GeneName:FUT2; CADD-Score:5; Consquence:synonymous; GeneID:ENSG00000176920; TranscriptID:ENST00000425340; AnnoType:SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:FUT2; CADD-Score:8; Consquence:stop_gained; GeneID:ENSG00000176920; TranscriptID:ENST00000425340; AnnoType:STOP_GAINED; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001690 23517042 NONHSAT056961.2 rs643507 C N/A 1,881 european ancestry children//810 children//2,643 european ancestry adult individuals//817 adult individuals; 979 european ancestry children//921 hispanic children//120 children EFO_0001073 in asthmatics Associate Body mass index in asthmatics rs643507-C of NONHSAT056961.2 is significantly associated with the body mass index in asthmatics by using GWAS analysis in 1,881 european ancestry children//810 children//2,643 european ancestry adult individuals//817 adult individuals; 979 european ancestry children//921 hispanic children//120 children(p-value = 8E-9 ;OR = ?). 0.4 Genome-wide association study of body mass index in 23 000 individuals with and without asthma. genome-wide association analysis NONHSAT056961.2 lncRNA Obesity 0.33 AGTTCCTTCT(C > T)CTCAGTAGTC chr18: 2946293 0.09964,0.9004 0.08292717889908256,0.91707282110091743 Region score:0.48; TSS score:0.33; Unmatched score:0.38; Average GERP:0.5356000000000003 GeneName:AP000919.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000263606; TranscriptID:ENST00000581139; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AP000919.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000265907; TranscriptID:ENST00000584431; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LPIN2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000101577; TranscriptID:ENST00000261596; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001691 23934736 NONHSAT218796.1 rs4006531 A N/A 1,260 african american individuals EFO_0005275 N/A Associate Metabolite levels (dihydroxy docosatrienoic acid) rs4006531-A of NONHSAT218796.1 is significantly associated with the metabolite levels (dihydroxy docosatrienoic acid) by using GWAS analysis in 1,260 african american individuals(p-value = 7E-7 ;OR = 0.11). 0.4 Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study. genome-wide association analysis NONHSAT218796.1 lncRNA Dihydroxy docosatrienoic acid measurement 0.33 GTTGTATAAC(G > A)ACTAGGCATT chr8: 125855261 0.5046,0.4954 0.44315430682976554,0.55684569317023445 Region score:0.3; TSS score:0.23; Unmatched score:0.08; Average GERP:-0.7428554455445542 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001692 20189936 NONHSAT167922.1 rs8002779 A N/A 19,633 japanese ancestry individuals EFO_0004339 N/A Associate Height rs8002779-A of NONHSAT167922.1 is significantly associated with the height by using GWAS analysis in 19,633 japanese ancestry individuals(p-value = 3E-6 ;OR = 0.05). 0.4 A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci. genome-wide association analysis NONHSAT167922.1 lncRNA Body height 0.33 GGTAATTGCT(G > A)TGATAATTAT chr13: 91363723 0.4782,0.5218 0.46161442405708460,0.53838557594291539 Region score:0.34; TSS score:0.27; Unmatched score:0.19; Average GERP:-0.34487227722772273 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001693 20848476 NONHSAT190249.1 rs6059101 A N/A 324 european ancestry medically refractory ulcerative colitis cases//537 european ancestry non-medically refractory ulcerative colitis cases//2,601 european ancestry controls EFO_0000729 N/A Associate Ulcerative colitis rs6059101-A of NONHSAT190249.1 is significantly associated with the ulcerative colitis by using GWAS analysis in 324 european ancestry medically refractory ulcerative colitis cases//537 european ancestry non-medically refractory ulcerative colitis cases//2,601 european ancestry controls(p-value = 4E-6 ;OR = ?). 0.4 Genetic predictors of medically refractory ulcerative colitis. genome-wide association analysis NONHSAT190249.1 lncRNA Ulcerative colitis 0.33 CAACAGTAGA(C > A,T)GGAAAAACGA chr20: 33130847 0.8373,.,0.1627 0.79495572120285423,0.00000796381243628,0.20503631498470948 Region score:0.25; TSS score:0.25; Unmatched score:0.13; Average GERP:-0.29846808510638284 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000649342; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001694 27601451 1q22 rs13373934 C Dominant 16,415 Hispanic/Latino individuals EFO_0006343 N/A increasing risk chronic periodontitis rs13373934-C of 1q22 and its dysfunction is significantly associated with the increasing risk of Chronic periodontitis by using genome-wide association analysis in 16,415 Hispanic/Latino individuals 0.4 Chronic Periodontitis Genome-wide Association Study in the Hispanic Community Health Study / Study of Latinos. genome-wide association analysis 1q22 Noncoding region Chronic periodontitis 0.33 GTGGTGAAAG(A > G)AGGAGATGGA chr1: 155478624 0.9872,0.01278 0.98876306065239551,0.01123693934760448 Region score:0.57; TSS score:0.39; Unmatched score:0.56; Average GERP:3.30240099009901 GeneName:ASH1L; CADD-Score:7; Consquence:missense; GeneID:ENSG00000116539; TranscriptID:ENST00000392403; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000373688; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001695 28073927 NONHSAT219942.1 rs2487048 A N/A 25,916 european ancestry individuals//1,073 orcadian (founder/genetic isolate) individuals//2,589 erasmus rucphen (founder/genetic isolate) individuals; 8,352 asian ancestry individuals EFO_0004695 N/A Associate Intraocular pressure rs2487048-A of NONHSAT219942.1 is significantly associated with the intraocular pressure by using GWAS analysis in 25,916 european ancestry individuals//1,073 orcadian (founder/genetic isolate) individuals//2,589 erasmus rucphen (founder/genetic isolate) individuals; 8,352 asian ancestry individuals(p-value = 5E-13 ;OR = 0.15). 0.4 New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics. genome-wide association analysis NONHSAT219942.1 lncRNA Intraocular pressure measurement 0.33 CCACCTGCAT(A > G)CAGACATTCA chr9: 104929542 0.3446,0.6554 0.35568775484199796,0.64431224515800203 Region score:0.14; TSS score:0.42; Unmatched score:0.61; Average GERP:-0.3431386138613862 GeneName:ABCA1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000165029; TranscriptID:ENST00000374736; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AL359182.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000226334; TranscriptID:ENST00000435915; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001696 24816252 NONHSAT196716.1 rs5030062 A N/A 7,824 european ancestry individuals EFO_0005664 N/A Associate Blood metabolite levels rs5030062-A of NONHSAT196716.1 is significantly associated with the blood metabolite levels by using GWAS analysis in 7,824 european ancestry individuals(p-value = 6E-13 ;OR = 0.072). 0.4 An atlas of genetic influences on human blood metabolites. genome-wide association analysis NONHSAT196716.1 lncRNA Blood metabolite measurement 0.33 TTATAGTTTT(A > C)ATCTTGCCTT chr3: 186736391 0.6587,0.3413 0.64970374617737003,0.35029625382262996 Region score:0.17; TSS score:0.1; Unmatched score:0.06; Average GERP:0.247108 GeneName:AC068631.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000197099; TranscriptID:ENST00000627551; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:KNG1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000113889; TranscriptID:ENST00000644859; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001697 27863252 NONHSAT168044.1 rs9555596 C N/A 170,494 european ancestry individuals EFO_0007989 N/A Associate Monocyte percentage of white cells rs9555596-C of NONHSAT168044.1 is significantly associated with the monocyte percentage of white cells by using GWAS analysis in 170,494 european ancestry individuals(p-value = 7E-13 ;OR = 0.02645999). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT168044.1 lncRNA Monocypte percentage of leukocytes 0.33 TTCTTTTGAA(T > A,C)ATTTCAATAG chr13: 109359492 0.6987,.,0.3013 0.69496209225280326,0.00596489551478083,0.29907301223241590 Region score:0.47; TSS score:0.34; Unmatched score:0.07; Average GERP:1.6135871287128711 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001698 28928442 NONHSAT027078.2 rs10492152 ? N/A 52,218 european ancestry cases//10,235 european ancestry controls EFO_0008412 N/A Associate Yeast infection rs10492152-? of NONHSAT027078.2 is significantly associated with the yeast infection by using GWAS analysis in 52,218 european ancestry cases//10,235 european ancestry controls(p-value = 8E-6 ;OR = 0.0451). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. genome-wide association analysis NONHSAT027078.2 lncRNA Susceptibility to vaginal yeast infection measurement 0.33 ACTGGGTGGA(T > C)GTTTTCCCGT chr12: 14738963 0.9299,0.07009 0.88380001274209989,0.11619998725790010 Region score:0.22; TSS score:0.19; Unmatched score:0.07; Average GERP:-0.992144554455445 GeneName:AC010168.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000214772; TranscriptID:ENST00000501178; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001699 28012790 miR-196a2 rs11614913 T Recessive 200 RPL couples and 400 healthy men EFO_1000954 N/A increasing risk habitual abortion rs11614913-T of hsa-mir-196a-2 and its dysfunction is significantly associated with the increasing risk of Habitual abortion by using case-control analysis in 200 RPL couples and 400 healthy men 0.4 The role of parental microRNA alleles in recurrent pregnancy loss: an association study. case-control analysis hsa-mir-196a-2 miRNA Habitual abortion 0.451 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001699 24700052 miR-196a rs11614913 C N/a All the 200 patients with rm reported to experience at least 3 unexplained miscarriages before 20th week of gestation. three hundred fertile women with no history of rms were taken as controls. EFO_1000954 N/A Increasing risk Recurrent miscarriage rs11614913-C of miR-196a and its dysfunction is significantly associated with the increasing risk of Recurrent miscarriage by using analysis of sequence variation in All the 200 patients with RM reported to experience at least 3 unexplained miscarriages before 20th week of gestation. Three hundred fertile women with no history of RMs were taken as controls 0.4 Recurrent miscarriage and micro-RNA among north Indian women. analysis of sequence variation hsa-mir-196a-2 miRNA Habitual abortion 0.451 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001700 26352407 NONHSAT183488.1 rs715 C N/A 3,861 european ancestry individuals; 1,691european ancestry individuals EFO_0005116 N/A Associate Urinary metabolites rs715-C of NONHSAT183488.1 is significantly associated with the urinary metabolites by using GWAS analysis in 3,861 european ancestry individuals; 1,691european ancestry individuals(p-value = 3E-25 ;OR = 0.176). 0.4 Genome-Wide Association Study with Targeted and Non-targeted NMR Metabolomics Identifies 15 Novel Loci of Urinary Human Metabolic Individuality. genome-wide association analysis NONHSAT183488.1 lncRNA Urinary metabolite measurement 0.33 TTCTGAACTC(T > C)TTCTATACTT chr2: 210678331 0.7638,0.2362 0.72770928899082568,0.27229071100917431 Region score:0.52; TSS score:0.86; Unmatched score:0.84; Average GERP:0.6805089108910892 GeneName:CPS1; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000021826; TranscriptID:ENST00000430249; AnnoType:3PRIME_UTR; mirSVR-Score:-1.1081; mirSVR-E:-13.72 | NCRV0000001701 27236921 NONHSAT100389.2 rs11959975 ? N/A 1,536 african ancestry cases//2,677 african ancestry controls; 434 african ancestry cases//1,336 african ancestry controls EFO_0003033 N/A Associate Bacteremia rs11959975-? of NONHSAT100389.2 is significantly associated with the bacteremia by using GWAS analysis in 1,536 african ancestry cases//2,677 african ancestry controls; 434 african ancestry cases//1,336 african ancestry controls(p-value = 5E-6 ;OR = 1.27). 0.4 Polymorphism in a lincRNA Associates with a Doubled Risk of Pneumococcal Bacteremia in Kenyan Children. genome-wide association analysis NONHSAT100389.2 lncRNA Bacteriemia 0.33 AATCTGAACC(G > A)TAATTGACAG chr5: 9902717 0.9361,0.0639 0.93421890927624872,0.06578109072375127 Region score:0.26; TSS score:0.13; Unmatched score:0.46; Average GERP:-0.4498832673267328 GeneName:LINC02112; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000249781; TranscriptID:ENST00000511616; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001702 23382691 NONHSAT190020.1 rs586446 C N/A 2,247 european ancestry individuals EFO_0002690 N/A Associate Igg glycosylation rs586446-C of NONHSAT190020.1 is significantly associated with the igg glycosylation by using GWAS analysis in 2,247 european ancestry individuals(p-value = 2E-6 ;OR = 0.2296). 0.4 Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. genome-wide association analysis NONHSAT190020.1 lncRNA Systemic lupus erythematosus 0.33 AGAGTTTTAA(C > T)TGGGGGAGAA chr20: 4406487 0.0611,0.9389 0.09542240061162079,0.90457759938837920 Region score:0.34; TSS score:0.27; Unmatched score:0.15; Average GERP:-0.10207366336633664 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000643886; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001703 28928442 NONHSAT207118.1 rs34241101 ? N/A 52,487 european ancestry cases//22,017 european ancestry controls EFO_0008408 N/A Associate Strep throat rs34241101-? of NONHSAT207118.1 is significantly associated with the strep throat by using GWAS analysis in 52,487 european ancestry cases//22,017 european ancestry controls(p-value = 2E-7 ;OR = 0.0548). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. genome-wide association analysis NONHSAT207118.1 lncRNA Susceptibility to strep throat measurement 0.33 GAGGCTTCTG(G > T)GGGAGAGAAG chr6: 31968280 0.8898,0.1102 0.90966647553516819,0.09033352446483180 Region score:0.34; TSS score:0.08; Unmatched score:0.35; Average GERP:-0.3655196039603963 GeneName:DXO; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000204348; TranscriptID:ENST00000375349; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SKIV2L; CADD-Score:2; Consquence:intron; GeneID:ENSG00000204351; TranscriptID:ENST00000375394; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:STK19; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000204344; TranscriptID:ENST00000375333; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001704 26752265 NONHSAT106513.2 rs2745572 A N/A 3,853 european ancestry cases//33,480 european ancestry controls; 2,137 european ancestry cases//6,699 european ancestry controls//1,037 singaporean chinese ancestry cases// 2,543 singaporean chinese ancestry controls EFO_0004190 N/A Associate Glaucoma (high intraocular pressure) rs2745572-A of NONHSAT106513.2 is significantly associated with the glaucoma (high intraocular pressure) by using GWAS analysis in 3,853 european ancestry cases//33,480 european ancestry controls; 2,137 european ancestry cases//6,699 european ancestry controls//1,037 singaporean chinese ancestry cases// 2,543 singaporean chinese ancestry controls(p-value = 3E-9 ;OR = ?). 0.4 Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma. genome-wide association analysis NONHSAT106513.2 lncRNA Open-angle glaucoma 0.33 AAACCATTTA(A > G)TATCCTGAAA chr6: 1548134 0.6408,0.3592 0.68940335117227319,0.31059664882772680 Region score:0.29; TSS score:0.12; Unmatched score:0.05; Average GERP:0.09957841584158411 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001705 25608926 NONHSAT161775.1 rs1860545 A N/A 2,332 european ancestry cases and 5,233 european ancestry controls; 764 european ancestry cases and 2,256 european ancestry controls EFO_0004192 N/A Associate Alopecia areata rs1860545-A of NONHSAT161775.1 is significantly associated with the alopecia areata by using GWAS analysis in 2,332 european ancestry cases and 5,233 european ancestry controls; 764 european ancestry cases and 2,256 european ancestry controls(p-value = 8E-6 ;OR = 1.16661). 0.4 Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci. genome-wide association analysis NONHSAT161775.1 lncRNA Alopecia areata 0.33 CACCATTGAC(G > A)ATGTCTGTTT chr12: 6337611 0.7798,0.2202 0.71231523955147808,0.28768476044852191 Region score:0.26; TSS score:0.32; Unmatched score:0.61; Average GERP:-0.7254801980198022 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000048285; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TNFRSF1A; CADD-Score:2; Consquence:intron; GeneID:ENSG00000067182; TranscriptID:ENST00000162749; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001706 26152337 hsa-mir-662 rs74656628 A N/A 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A no significance for risk hepatocellular carcinoma rs74656628-A of hsa-mir-662 and its dysfunction is not significantly associated with Hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors -0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. case-control analysis hsa-mir-662 miRNA Hepatocellular carcinoma -0.33 GCCCTGACGG(T > A)GGGGTGGCTG chr16: 770215 0.8626,0.1374 0.87799439347604485,0.12200560652395514 Region score:0.21; TSS score:0.11; Unmatched score:0.58; Average GERP:1.5923495049504945 GeneName:AL031258.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000279136; TranscriptID:ENST00000623562; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR662; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207579; TranscriptID:ENST00000384847; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MSLN; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000102854; TranscriptID:ENST00000382862; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MSLNL; CADD-Score:7; Consquence:missense; GeneID:ENSG00000162006; TranscriptID:ENST00000543963; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000528343; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000528345; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001707 25231870 NONHSAT187685.1 rs4369815 T N/A up to 182,413 european ancestry females EFO_0004703 N/A Associate Menarche (age at onset) rs4369815-T of NONHSAT187685.1 is significantly associated with the menarche (age at onset) by using GWAS analysis in up to 182,413 european ancestry females(p-value = 2E-10 ;OR = 0.06). 0.4 Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. genome-wide association analysis NONHSAT187685.1 lncRNA Age at menarche 0.33 CAACCTCTCC(T > G)CGGTACCTCC chr2: 156270452 0.9724,0.02756 0.95635034403669724,0.04364965596330275 Region score:0.28; TSS score:0.23; Unmatched score:0.03; Average GERP:-0.1816852631578947 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001708 20195266 NONHSAT186584.1 rs6735179 ? N/A 421 european ancestry//214 african american//and 103 cases GO_0097334 N/A Associate Response to antipsychotic treatment rs6735179-? of NONHSAT186584.1 is significantly associated with the response to antipsychotic treatment by using GWAS analysis in 421 european ancestry//214 african american//and 103 cases(p-value = 1E-7 ;OR = ?). 0.4 Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs. genome-wide association analysis NONHSAT186584.1 lncRNA Response to perphenazine 0.33 CAACACCTGC(A > G)AAGATTCGTC chr2: 1773378 0.597,0.403 0.64034626656472986,0.35965373343527013 Region score:0.36; TSS score:0.24; Unmatched score:0.15; Average GERP:-1.132005940594059 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001709 20889312 NONHSAT189505.1 rs2424635 ? N/A 651 european ancestry bipolar cases//1,171 european ancestry schizophrenia cases//2,412 european ancestry controls EFO_0000677 N/A Associate Bipolar disorder and schizophrenia rs2424635-? of NONHSAT189505.1 is significantly associated with the bipolar disorder and schizophrenia by using GWAS analysis in 651 european ancestry bipolar cases//1,171 european ancestry schizophrenia cases//2,412 european ancestry controls(p-value = 7E-6 ;OR = 1.2261). 0.4 A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder. genome-wide association analysis NONHSAT189505.1 lncRNA Mental or behavioural disorder 0.33 TAAAAGACTT(C > A)CTGCAATTGC chr20: 24736449 0.5968,0.4032 0.50114678899082568,0.49885321100917431 Region score:0.4; TSS score:0.36; Unmatched score:0.24; Average GERP:-0.3115443564356438 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001710 24701036 miR-146a rs2910164 G Dominant 226 sepsis cases and 206 healthy controls in a chinese han population HP_0100806 N/A Increasing risk Sepsis rs2910164-G of miR-146a and its dysfunction is significantly associated with the increasing risk of sepsis by using case-control analysis in 226 sepsis cases and 206 healthy controls in a Chinese Han population. 0.4 The functional polymorphisms of miR-146a are associated with susceptibility to severe sepsis in the Chinese population. case-control analysis hsa-mir-146a miRNA Sepsis 0.33 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 N/A 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001711 27342110 miR-196a2 rs11614913 T dominant 230 cancer patients (including 17 types of cancer), 26 patients with pre-cancer lesions, and 100 unrelated controls. EFO_0002890 N/A increasing risk renal carcinoma rs11614913-T of hsa-mir-196a-2 and its dysfunction is significantly associated with the increasing risk of Renal carcinoma by using case-control analysis in 230 cancer patients (including 17 types of cancer), 26 patients with pre-cancer lesions, and 100 unrelated controls. 0.4 MicroRNA-196a2 Biomarker and Targetome Network Analysis in Solid Tumors. case-control analysis hsa-mir-196a-2 miRNA Renal carcinoma 0.33 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001712 28060188 NONHSAT205819.1 rs13166103 ? N/A 2,307 celtic ancestry individuals//1,102 slavic ancestry individuals EFO_0001360 N/A Associate Type 2 diabetes (age of onset) rs13166103-? of NONHSAT205819.1 is significantly associated with the type 2 diabetes (age of onset) by using GWAS analysis in 2,307 celtic ancestry individuals//1,102 slavic ancestry individuals(p-value = 4E-6 ;OR = ?). 0.4 PROX1 gene CC genotype as a major determinant of early onset of type 2 diabetes in slavic study participants from Action in Diabetes and Vascular Disease: Preterax and Diamicron MR Controlled Evaluation study. genome-wide association analysis NONHSAT205819.1 lncRNA Type ii diabetes mellitus 0.33 CTGATTGGTG(C > A)ATTTACAATC chr5: 58446375 0.9395,0.0605 0.87725375891946992,0.12274624108053007 Region score:0.25; TSS score:0.07; Unmatched score:0.03; Average GERP:0.08970408163265296 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001713 27863252 NONHSAT202777.1 rs2928166 C N/A 173,039 european ancestry individuals EFO_0004348 N/A Associate Hematocrit rs2928166-C of NONHSAT202777.1 is significantly associated with the hematocrit by using GWAS analysis in 173,039 european ancestry individuals(p-value = 1E-11 ;OR = 0.03604599). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT202777.1 lncRNA Hematocrit 0.33 CCCTCTGTTG(T > C)CCAGGCTGGA chr5: 77184008 0.5811,0.4189 0.72078873598369011,0.27921126401630988 Region score:0.27; TSS score:0.21; Unmatched score:0.07; Average GERP:-0.23602772277227715 GeneName:AC022414.1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000284762; TranscriptID:ENST00000646262; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001714 21102463 NONHSAT184707.1 rs10181042 T N/A 6,333 european ancestry cases//15,056 european ancestry controls; 15,694 european ancestry cases//14,026 european ancestry controls//414 european ancestry trios EFO_0000384 N/A Associate Crohn's disease rs10181042-T of NONHSAT184707.1 is significantly associated with the crohn's disease by using GWAS analysis in 6,333 european ancestry cases//15,056 european ancestry controls; 15,694 european ancestry cases//14,026 european ancestry controls//414 european ancestry trios(p-value = 7E-9 ;OR = 1.14). 0.4 Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. genome-wide association analysis NONHSAT184707.1 lncRNA Crohn's disease 0.33 TTGGAGTTAC(C > T)TTTGATAAGA chr2: 60997124 0.7089,0.2911 0.60697789245667686,0.39302210754332313 Region score:0.43; TSS score:0.24; Unmatched score:0.26; Average GERP:-0.24092673267326745 GeneName:PUS10; CADD-Score:2; Consquence:intron; GeneID:ENSG00000162927; TranscriptID:ENST00000316752; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RNA5SP95; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000222251; TranscriptID:ENST00000410319; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001715 28195142 NONHSAT036425.2 rs116909374 T N/A 2,637 european ancestry cases//364 non-array typed//familial imputed icelandic ancestry cases//134,811 european ancestry controls//152,739 non-array typed//familial imputed icelandic ancestry controls. EFO_0002892 N/A Associate Thyroid cancer rs116909374-T of NONHSAT036425.2 is significantly associated with the thyroid cancer by using GWAS analysis in 2,637 european ancestry cases//364 non-array typed//familial imputed icelandic ancestry cases//134,811 european ancestry controls//152,739 non-array typed//familial imputed icelandic ancestry controls.(p-value = 1E-16 ;OR = 1.81). 0.4 A genome-wide association study yields five novel thyroid cancer risk loci. genome-wide association analysis NONHSAT036425.2 lncRNA Thyroid cancer 0.451 CGGGAACTCA(C > T)GCATGTCACC chr14: 36269155 0.9886,0.01138 0.97730313455657492,0.02269686544342507 Region score:0.54; TSS score:0.32; Unmatched score:0.32; Average GERP:3.3607584158415835 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001715 22267200 NONHSAT036425.2 rs116909374 T N/A 27,758 european ancestry individuals; 1,156 european ancestry cases//up to 42,617 european ancestry controls EFO_0002892 N/A Associate Thyroid cancer rs116909374-T of NONHSAT036425.2 is significantly associated with the thyroid cancer by using GWAS analysis in 27,758 european ancestry individuals; 1,156 european ancestry cases//up to 42,617 european ancestry controls(p-value = 5E-11 ;OR = 2.09). 0.4 Discovery of common variants associated with low TSH levels and thyroid cancer risk. genome-wide association analysis NONHSAT036425.2 lncRNA Thyroid cancer 0.451 CGGGAACTCA(C > T)GCATGTCACC chr14: 36269155 0.9886,0.01138 0.97730313455657492,0.02269686544342507 Region score:0.54; TSS score:0.32; Unmatched score:0.32; Average GERP:3.3607584158415835 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001716 24888363 MIR137 rs66642155 ? Dominant 345 BD patients, 426 SZ patients and 1376 healthy individuals, all unrelated, in V?sterbotten region of Northern Sweden EFO_0000289 N/A increasing risk bipolar disorder rs66642155-? of hsa-mir-137 and its dysfunction is significantly associated with the increasing risk of Bipolar disorder by using case-control analysis in 345 BD patients, 426 SZ patients and 1376 healthy individuals, all unrelated, in V?sterbotten region of Northern Sweden 0.9 MIR137 variants identified in psychiatric patients affect synaptogenesis and neuronal transmission gene sets. case-control analysis hsa-mir-137 miRNA Bipolar disorder 0.593 - - - - - - NCRV0000001717 28470677 NONHSAT167804.1 rs17077369 G N/A 868 european ancestry cases; 820 european ancestry cases EFO_0002618 N/A Associate Survival in pancreatic cancer rs17077369-G of NONHSAT167804.1 is significantly associated with the survival in pancreatic cancer by using GWAS analysis in 868 european ancestry cases; 820 european ancestry cases(p-value = 3E-6 ;OR = 1.63). 0.4 Genetic polymorphisms associated with pancreatic cancer survival: a genome-wide association study. genome-wide association analysis NONHSAT167804.1 lncRNA Pancreatic cancer 0.33 TACAGCCCAG(A > G)GATGCTGAAT chr13: 83861212 0.8139,0.1861 0.81813837920489296,0.18186162079510703 Region score:0.39; TSS score:0.08; Unmatched score:0; Average GERP:-0.03184000000000001 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001718 22589738 NONHSAT181194.1 rs962528 T N/A 5,560 european ancestry female individuals//4,997 european ancestry male individuals EFO_0004765 N/A Associate Visceral fat rs962528-T of NONHSAT181194.1 is significantly associated with the visceral fat by using GWAS analysis in 5,560 european ancestry female individuals//4,997 european ancestry male individuals(p-value = 8E-6 ;OR = ?). 0.4 Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. genome-wide association analysis NONHSAT181194.1 lncRNA Visceral adipose tissue measurement 0.33 TTTAATACAC(C > T)ATGGCCTCAT chr2: 6556956 0.7236,0.2764 0.74248216106014271,0.25751783893985728 Region score:0.46; TSS score:0.42; Unmatched score:0.13; Average GERP:-0.6551871287128712 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000595844; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001719 24248733 miR196a-2 rs12304647 C N/A 1,439 Korean patients with either past or present HBV infection, including 404 control subjects who underwent spontaneous recovery and 1,035 subjects with chronic HBV (313 cases of chronic hepatitis B, 305 cases of cirrhosis of the liver, and 417 cases of hepatocellular carcinoma [HCC]) EFO_0000182 N/A decreasing risk hepatocellular carcinoma rs12304647-C of hsa-mir-196a-2 and its dysfunction is significantly associated with the decreasing risk of Hepatocellular carcinoma by using case-control analysis in 1,439 Korean patients with either past or present HBV infection, including 404 control subjects who underwent spontaneous recovery and 1,035 subjects with chronic HBV (313 cases of chronic hepatitis B, 305 cases of cirrhosis of the liver, and 417 cases of hepatocellular carcinoma [HCC]) 0.4 MicroRNA-196A-2 polymorphisms and hepatocellular carcinoma in patients with chronic hepatitis B. case-control analysis hsa-mir-196a-2 miRNA Hepatocellular carcinoma 0.33 AGGAGTACAG(A > C)GGGTTGAAGC chr12: 53991163 0.7009,0.2991 0.72982766309887869,0.27017233690112130 Region score:0.25; TSS score:0.41; Unmatched score:0.65; Average GERP:0.7889173267326735 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000458651; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001720 27863252 NONHSAT130003.2 rs369552432 A N/A 172,925 european ancestry individuals EFO_0004509 N/A Associate Hemoglobin concentration rs369552432-A of NONHSAT130003.2 is significantly associated with the hemoglobin concentration by using GWAS analysis in 172,925 european ancestry individuals(p-value = 2E-11 ;OR = 0.02564572). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT130003.2 lncRNA Hemoglobin measurement 0.33 TGCGGAGCGA(ACGGCGGCGG > A)CGGCGGCGGC chr9: 2622146 0.6937,0.3063 0.60953427624872579,0.39046572375127420 N/A GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000874061; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000874064; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:VLDLR-AS1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000236404; TranscriptID:ENST00000648733; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:VLDLR; CADD-Score:3; Consquence:5_prime_UTR; GeneID:ENSG00000147852; TranscriptID:ENST00000382100; AnnoType:5PRIME_UTR; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001721 28078323 NONHSAT179793.1 rs429358 ? N/A 3,964 african american ancestry individuals. HP_0100543 N/A Associate Cognitive decline (age-related) rs429358-? of NONHSAT179793.1 is significantly associated with the cognitive decline (age-related) by using GWAS analysis in 3,964 african american ancestry individuals.(p-value = 2E-14 ;OR = 0.01). 0.4 Genetic architecture of age-related cognitive decline in African Americans. genome-wide association analysis NONHSAT179793.1 lncRNA Cognitive impairment 0.33 GGAGGACGTG(T > C)GCGGCCGCCT chr19: 44908684 0.8494,0.1506 0.84440303261977573,0.15559696738022426 Region score:0.28; TSS score:0.39; Unmatched score:0.64; Average GERP:1.473687128712871 GeneName:AC011481.3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000280087; TranscriptID:ENST00000623895; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:APOE; CADD-Score:7; Consquence:missense; GeneID:ENSG00000130203; TranscriptID:ENST00000252486; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TOMM40; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000130204; TranscriptID:ENST00000252487; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001722 29361751 miR-17-92 rs770419845 A Dominant 99 BRCA1/2 mutation-negative breast cancer cases with a strong family history EFO_0000305 N/A increasing risk breast carcinoma rs770419845-A of miR-17-92 and its dysfunction is significantly associated with the increasing risk of Breast carcinoma by using Pedigree analysis in 99 BRCA1/2 mutation-negative breast cancer cases with a strong family history 0.4 Identification of a Rare Germline Heterozygous Deletion Involving the Polycistronic miR-17-92 Cluster in Two First-Degree Relatives from a BRCA 1/2 Negative Chilean Family with Familial Breast Cancer: Possible Functional Implications. Pedigree analysis miR-17-92 miRNA Breast carcinoma 0.33 GGGAAGCCAA(GTTGGGC > G)TTGGGCTTTA chr13: 91350708 0 RS=770419845;RSPOS=91350709;dbSNPBuildID=144;SSR=0;SAO=0;VP=0x0500000e0005000002000200;GENEINFO=MIR20A:406982|MIR18A:406953|MIR17:406952|MIR19B1:406980|MIR92A1:407048|MIR19A:406979|MIR17HG:407975;WGT=1;VC=DIV;INT;R3;R5;ASP - GeneName:MIR17; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000284536; TranscriptID:ENST00000385012; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0540; mirSVR-E:-28.35 | GeneName:MIR17HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000215417; TranscriptID:ENST00000582141; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0540; mirSVR-E:-28.35 | GeneName:MIR18A; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000283815; TranscriptID:ENST00000362310; AnnoType:UPSTREAM; mirSVR-Score:-0.0540; mirSVR-E:-28.35 | GeneName:MIR19A; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284204; TranscriptID:ENST00000384878; AnnoType:UPSTREAM; mirSVR-Score:-0.0540; mirSVR-E:-28.35 | GeneName:MIR19B1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284375; TranscriptID:ENST00000384829; AnnoType:UPSTREAM; mirSVR-Score:-0.0540; mirSVR-E:-28.35 | GeneName:MIR20A; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000283762; TranscriptID:ENST00000362279; AnnoType:UPSTREAM; mirSVR-Score:-0.0540; mirSVR-E:-28.35 | GeneName:MIR92A1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000283705; TranscriptID:ENST00000385233; AnnoType:UPSTREAM; mirSVR-Score:-0.0540; mirSVR-E:-28.35 | NCRV0000001723 23526039 miR-206 rs6920648 G Dominant 1,972 cases and 1,776 controls EFO_0000305 N/A better prognosis breast carcinoma rs6920648-G of hsa-mir-206 and its dysfunction is significantly associated with the better prognosis of Breast carcinoma by using case-control analysis in 1,972 cases and 1,776 controls 0.4 Association of germline microRNA SNPs in pre-miRNA flanking region and breast cancer risk and survival: the Carolina Breast Cancer Study. case-control analysis hsa-mir-206 miRNA Breast carcinoma 0.33 GATCCTTCCC(A > G)CAGTGAACAA chr6: 52143818 0.7119,0.2881 0.62774751529051987,0.37225248470948012 Region score:0.48; TSS score:0.54; Unmatched score:0.6; Average GERP:0.7812213663366342 GeneName:LINCMD1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000225613; TranscriptID:ENST00000418518; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR206; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207604; TranscriptID:ENST00000384872; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001724 27182965 NONHSAT108398.2 rs4713118 ? N/A 9,619 european ancestry cases//324,522 european ancestry controls EFO_0002508 N/A Associate Parkinson's disease rs4713118-? of NONHSAT108398.2 is significantly associated with the parkinson's disease by using GWAS analysis in 9,619 european ancestry cases//324,522 european ancestry controls(p-value = 2E-10 ;OR = 1.121). 0.4 Detection and interpretation of shared genetic influences on 42 human traits. genome-wide association analysis NONHSAT108398.2 lncRNA Parkinson's disease 0.33 ATAATCTATC(A > G)TAAGATTCTC chr6: 27709015 0.6893,0.3107 0.68872642711518858,0.31127357288481141 Region score:0.38; TSS score:0.11; Unmatched score:0.08; Average GERP:-0.20573485148514847 GeneName:LINC01012; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000281706; TranscriptID:ENST00000629732; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000786786; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001725 29059683 NONHSAT076862.2 rs11693806 G N/A 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls EFO_0000305 N/A Associate Breast cancer rs11693806-G of NONHSAT076862.2 is significantly associated with the breast cancer by using GWAS analysis in 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls(p-value = 3E-26 ;OR = 0.0739). 0.4 Association analysis identifies 65 new breast cancer risk loci. genome-wide association analysis NONHSAT076862.2 lncRNA Breast cancer 0.33 TTCTCCCTCA(C > G)GAATGTCTGG chr2: 217427435 0.4984,0.5016 0.36813519367991845,0.63186480632008154 Region score:0.23; TSS score:0.34; Unmatched score:0.46; Average GERP:1.4573455445544554 GeneName:DIRC3; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000231672; TranscriptID:ENST00000474063; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001726 27089181 NONHSAT178381.1 rs1557341 A N/A 170,911 european ancestry individuals EFO_0007660 N/A Associate Neuroticism rs1557341-A of NONHSAT178381.1 is significantly associated with the neuroticism by using GWAS analysis in 170,911 european ancestry individuals(p-value = 6E-9 ;OR = 0.021337654). 0.4 Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses. genome-wide association analysis NONHSAT178381.1 lncRNA Neuroticism measurement 0.33 CCTTACCTAC(A > C)TGAGAGCTGT chr18: 37547464 0.5341,0.4659 0.49354134811416921,0.50645865188583078 Region score:0.29; TSS score:0.21; Unmatched score:0.18; Average GERP:-0.19347752475247534 GeneName:CELF4; CADD-Score:2; Consquence:intron; GeneID:ENSG00000101489; TranscriptID:ENST00000420428; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001727 27863252 NONHSAT144330.2 rs68149176 T N/A 172,433 european ancestry individuals EFO_0004526 N/A Associate Mean corpuscular volume rs68149176-T of NONHSAT144330.2 is significantly associated with the mean corpuscular volume by using GWAS analysis in 172,433 european ancestry individuals(p-value = 4E-20 ;OR = 0.03822953). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT144330.2 lncRNA Mean corpuscular volume 0.33 ACTGACTCCA(C > G,T)GACACCCCTC chr16: 87852884 0.7153,.,0.2847 0.77823967889908256,0.00001592762487257,0.22174439347604485 Region score:0.29; TSS score:0.39; Unmatched score:0.57; Average GERP:-0.6938237623762374 GeneName:SLC7A5; CADD-Score:2; Consquence:intron; GeneID:ENSG00000103257; TranscriptID:ENST00000261622; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001728 25628645 NONHSAT208508.1 rs9355211 ? N/A 93 african american ancestry lymphoblastoid cell lines//91 european ancestry lymphoblastoid cell lines//94 han chinese ancestry lymphoblastoid cell lines EFO_0006996 Homoharringtonine Associate Response to homoharringtonine (cytotoxicity) rs9355211-? of NONHSAT208508.1 is significantly associated with the response to homoharringtonine (cytotoxicity) by using GWAS analysis in 93 african american ancestry lymphoblastoid cell lines//91 european ancestry lymphoblastoid cell lines//94 han chinese ancestry lymphoblastoid cell lines(p-value = 7E-7 ;OR = ?). 0.4 Identification of genetic variants or genes that are associated with Homoharringtonine (HHT) response through a genome-wide association study in human lymphoblastoid cell lines (LCLs). genome-wide association analysis NONHSAT208508.1 lncRNA Response to homoharringtonine 0.33 ATCTGTCAGC(C > T)TTGGCGCTGA chr6: 168415772 0.8898,0.1102 0.92167590468909276,0.07832409531090723 Region score:0.35; TSS score:0.26; Unmatched score:0.15; Average GERP:-1.49919900990099 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001729 22589738 NONHSAT178108.1 rs12967884 A N/A 5,560 european ancestry female individuals//4,997 european ancestry male individuals EFO_0004766 N/A Associate Subcutaneous adipose tissue rs12967884-A of NONHSAT178108.1 is significantly associated with the subcutaneous adipose tissue by using GWAS analysis in 5,560 european ancestry female individuals//4,997 european ancestry male individuals(p-value = 7E-6 ;OR = ?). 0.4 Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. genome-wide association analysis NONHSAT178108.1 lncRNA Subcutaneous adipose tissue measurement 0.33 ACAGCCTGTC(A > G)ATTCTGTTTC chr18: 78831635 0.8135,0.1865 0.83068138379204892,0.16931861620795107 Region score:0.33; TSS score:0.13; Unmatched score:0.08; Average GERP:0.010564356435643593 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001730 26198764 NONHSAT166533.1 rs11616416 A N/A 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls EFO_0000692 N/A Associate Schizophrenia rs11616416-A of NONHSAT166533.1 is significantly associated with the schizophrenia by using GWAS analysis in 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls(p-value = 7E-6 ;OR = 1.06). 0.4 Genome-wide association study of schizophrenia in Ashkenazi Jews. genome-wide association analysis NONHSAT166533.1 lncRNA Schizophrenia 0.33 GCTGATGCTG(G > A)CTTTGATCTT chr13: 29262114 0.7897,0.2103 0.77432148318042813,0.22567851681957186 Region score:0.44; TSS score:0.27; Unmatched score:0.11; Average GERP:0.29766336633663387 GeneName:MTUS2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000132938; TranscriptID:ENST00000612955; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001731 28468790 NONHSAT168760.1 rs11159840 ? N/A 247 european ancestry trios//70 non-european ancestry trios//192 european and other ancestry trios EFO_0005938 N/A Associate Left ventricular obstructive tract defect (inherited effect) rs11159840-? of NONHSAT168760.1 is significantly associated with the left ventricular obstructive tract defect (inherited effect) by using GWAS analysis in 247 european ancestry trios//70 non-european ancestry trios//192 european and other ancestry trios(p-value = 2E-6 ;OR = 1.6105342). 0.4 Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects. genome-wide association analysis NONHSAT168760.1 lncRNA Congenital left-sided heart lesions 0.33 GCATTTAAAT(G > A,T)ACAACACTTT chr14: 88090181 0.5954,.,0.4046 0.58925840978593272,0.00003185524974515,0.41070973496432212 Region score:0.36; TSS score:0.16; Unmatched score:0.07; Average GERP:0.5298613861386139 GeneName:LINC01146; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000258867; TranscriptID:ENST00000556673; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000504538; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001732 24322204 NONHSAT211006.1 rs62421103 ? N/A 388 european ancestry cases//1,020 european ancestry controls EFO_0000289 N/A Associate Bipolar disorder (body mass index interaction) rs62421103-? of NONHSAT211006.1 is significantly associated with the bipolar disorder (body mass index interaction) by using GWAS analysis in 388 european ancestry cases//1,020 european ancestry controls(p-value = 4E-6 ;OR = ?). 0.4 Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2. genome-wide association analysis NONHSAT211006.1 lncRNA Bipolar disorder 0.33 TGGCAAAGGG(G > T)TGCATTTCAC chr6: 112839142 0.983,0.01697 0.96300809123343527,0.03699190876656472 Region score:0.47; TSS score:0.35; Unmatched score:0.08; Average GERP:-0.730351485148515 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000802169; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001733 27863252 NONHSAT026062.2 rs12296430 C N/A 171,748 european ancestry individuals EFO_0007993 N/A Associate Lymphocyte percentage of white cells rs12296430-C of NONHSAT026062.2 is significantly associated with the lymphocyte percentage of white cells by using GWAS analysis in 171,748 european ancestry individuals(p-value = 8E-24 ;OR = 0.0462941). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT026062.2 lncRNA Lymphocyte percentage of leukocytes 0.33 GGACGGTAAG(G > C)GGATGGCTGC chr12: 6394334 0.8668,0.1332 0.84331995412844036,0.15668004587155963 Region score:0.34; TSS score:0.16; Unmatched score:0.26; Average GERP:-0.06228712871287133 GeneName:AC005840.2; CADD-Score:5; Consquence:splice,intron,non_coding; GeneID:ENSG00000256433; TranscriptID:ENST00000541888; AnnoType:SPLICE_SITE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LTBR; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000111321; TranscriptID:ENST00000228918; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000048298; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001734 27863252 NONHSAT207279.1 rs16895831 T N/A 170,384 european ancestry individuals EFO_0009390 N/A Associate Sum neutrophil eosinophil counts rs16895831-T of NONHSAT207279.1 is significantly associated with the sum neutrophil eosinophil counts by using GWAS analysis in 170,384 european ancestry individuals(p-value = 7E-9 ;OR = 0.02596701). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT207279.1 lncRNA Sum of neutrophil and eosinophil counts 0.33 TGGCTGCCGG(C > T)TGTGGATTCC chr6: 42548053 0.8033,0.1967 0.79576803007135575,0.20423196992864424 Region score:0.39; TSS score:0.39; Unmatched score:0.52; Average GERP:0.009751485148514826 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000790835; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001735 21051598 NONHSAT108716.2 rs9262632 G N/A 516 european cases//1,196 european controls//341 african american cases//892 african american controls//117 hispanic cases//560 hispanic controls EFO_0000180 N/A Associate Hiv-1 control rs9262632-G of NONHSAT108716.2 is significantly associated with the hiv-1 control by using GWAS analysis in 516 european cases//1,196 european controls//341 african american cases//892 african american controls//117 hispanic cases//560 hispanic controls(p-value = 1E-8 ;OR = 3.1). 0.4 The major genetic determinants of HIV-1 control affect HLA class I peptide presentation. genome-wide association analysis NONHSAT108716.2 lncRNA Hiv-1 infection 0.33 GAGGAAGCCT(A > G)CATAGAGAGA chr6: 31057031 0.9333,0.06669 0.93943520642201834,0.06056479357798165 Region score:0.19; TSS score:0.32; Unmatched score:0.41; Average GERP:-0.9604960396039606 GeneName:HCG22; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000228789; TranscriptID:ENST00000426185; AnnoType:INTRONIC; mirSVR-Score:-0.0005; mirSVR-E:-12.87 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000787465; AnnoType:REGULATORY; mirSVR-Score:-0.0005; mirSVR-E:-12.87 | NCRV0000001736 22347493 miR-155 rs928883 A N/A 569 cases and 547 controls EFO_0005952 N/A increasing risk non-Hodgkins lymphoma rs928883-A of hsa-mir-155 and its dysfunction is significantly associated with the increasing risk of Non-hodgkins lymphoma by using case-control analysis in 569 cases and 547 controls 0.4 Genetic variation in cell death genes and risk of non-Hodgkin lymphoma. case-control analysis hsa-mir-155 miRNA Non-hodgkins lymphoma 0.33 AATTTCTAAT(A > G)TATAATTCAT chr21: 25571713 0.239,0.761 0.18077057849133537,0.81922942150866462 Region score:0.35; TSS score:0.42; Unmatched score:0.6; Average GERP:-0.3453425742574259 GeneName:MIR155; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000283904; TranscriptID:ENST00000385060; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR155HG; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000234883; TranscriptID:ENST00000456917; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001737 25961943 NONHSAT152916.1 rs340839 A N/A up to 62,166 european ancestry individuals EFO_0000319 N/A Associate Triglycerides rs340839-A of NONHSAT152916.1 is significantly associated with the triglycerides by using GWAS analysis in up to 62,166 european ancestry individuals(p-value = 4E-10 ;OR = 0.039). 0.4 The impact of low-frequency and rare variants on lipid levels. genome-wide association analysis NONHSAT152916.1 lncRNA Cardiovascular disease 0.33 ACTGCTCCCT(G > A,C)CACCGCGTAA chr1: 213988477 0.5531,0.4469,. 0.54503535932721712,0.41718431447502548,0.03778032619775739 Region score:0.73; TSS score:0.77; Unmatched score:0.98; Average GERP:1.7919475247524748 GeneName:AC011700.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000274895; TranscriptID:ENST00000610409; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000019842; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PROX1-AS1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000230461; TranscriptID:ENST00000433082; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PROX1; CADD-Score:3; Consquence:5_prime_UTR; GeneID:ENSG00000117707; TranscriptID:ENST00000366958; AnnoType:5PRIME_UTR; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001738 21738480 NONHSAT210392.1 rs2517510 T N/A 19,509 european ancestry individuals; 11,823 european ancestry individuals EFO_0004308 N/A Associate White blood cell count rs2517510-T of NONHSAT210392.1 is significantly associated with the white blood cell count by using GWAS analysis in 19,509 european ancestry individuals; 11,823 european ancestry individuals(p-value = 4E-13 ;OR = 0.0129). 0.4 Multiple loci are associated with white blood cell phenotypes. genome-wide association analysis NONHSAT210392.1 lncRNA Leukocyte count 0.33 TAGAGATACT(T > G)GCATGAATAT chr6: 31062345 0.4958,0.5042 0.55542813455657492,0.44457186544342507 Region score:0.37; TSS score:0.44; Unmatched score:0.4; Average GERP:0.15866237623762378 GeneName:HCG22; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000228789; TranscriptID:ENST00000426185; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001739 25261463 miR_148a rs4719839 G N/A 571 Chinese GC patients and 571 cancer-free controls EFO_0000178 N/A poor prognosis gastric carcinoma rs4719839-G of hsa-mir-148a and its dysfunction is significantly associated with the poor prognosis of Gastric carcinoma by using case-control analysis in 571 Chinese GC patients and 571 cancer-free controls 0.4 Polymorphisms and haplotypes of the miR-148/152 family are associated with the risk and clinicopathological features of gastric cancer in a Northern Chinese population. case-control analysis hsa-mir-148a miRNA Gastric carcinoma 0.33 AGAAAATTTT(G > A,C)TATCAATTAA chr7: 25946953 0.26,0.74,. 0.23745699541284403,0.75108307849133537,0.01145992609582059 Region score:0.24; TSS score:0.19; Unmatched score:0.13; Average GERP:-0.4412663366336634 GeneName:AC010719.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000270933; TranscriptID:ENST00000602992; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR148A; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000199085; TranscriptID:ENST00000362215; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001740 23874384 NONHSAT133650.2 rs12551906 G N/A 2,930 european ancestry children EFO_0005322 N/A Associate Callous-unemotional behaviour rs12551906-G of NONHSAT133650.2 is significantly associated with the callous-unemotional behaviour by using GWAS analysis in 2,930 european ancestry children(p-value = 3E-6 ;OR = ?). 0.4 Genetics of callous-unemotional behavior in children. genome-wide association analysis NONHSAT133650.2 lncRNA Callous-unemotional behaviour 0.33 CCTGGAGGCT(G > A)TGTGTGTCAC chr9: 99356808 0.8277,0.1723 0.80638379204892966,0.19361620795107033 Region score:0.29; TSS score:0.48; Unmatched score:0.34; Average GERP:2.2572772277227715 GeneName:AL137067.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277828; TranscriptID:ENST00000621202; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000888694; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NAMA; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000271086; TranscriptID:ENST00000604258; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001741 27082954 NONHSAT158939.1 rs16914101 ? N/A 104 european ancestry cases//1,519 european ancestry controls//34 african american cases//520 african american controls EFO_0004265 traffic-related air pollution interaction Associate Peripheral arterial disease (traffic-related air pollution interaction) rs16914101-? of NONHSAT158939.1 is significantly associated with the peripheral arterial disease (traffic-related air pollution interaction) by using GWAS analysis in 104 european ancestry cases//1,519 european ancestry controls//34 african american cases//520 african american controls(p-value = 2E-6 ;OR = 4.9). 0.4 Genetic Variants in the Bone Morphogenic Protein Gene Family Modify the Association between Residential Exposure to Traffic and Peripheral Arterial Disease. genome-wide association analysis NONHSAT158939.1 lncRNA Peripheral arterial disease 0.33 AACAAAAGAA(G > A)CAGATTATGA chr11: 25541947 0.9423,0.05771 0.94709639398572884,0.05290360601427115 Region score:0.26; TSS score:0.06; Unmatched score:0.02; Average GERP:0.037623762376237636 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001742 21980299 NONHSAT069825.2 rs6547853 ? N/A 9,934 european ancestry cases//16,956 european ancestry controls; 1,120 european ancestry affected trios EFO_0001359 N/A Associate Type 1 diabetes rs6547853-? of NONHSAT069825.2 is significantly associated with the type 1 diabetes by using GWAS analysis in 9,934 european ancestry cases//16,956 european ancestry controls; 1,120 european ancestry affected trios(p-value = 8E-7 ;OR = 1.19). 0.4 A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci. genome-wide association analysis NONHSAT069825.2 lncRNA Type i diabetes mellitus 0.33 CATTAAATGT(G > A)ATCAAGTATC chr2: 28423934 0.7476,0.2524 0.65850375891946992,0.34149624108053007 Region score:0.22; TSS score:0.35; Unmatched score:0.2; Average GERP:-0.4095544554455444 GeneName:AC104695.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000270210; TranscriptID:ENST00000605056; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000600867; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001743 22952603 NONHSAT099296.2 rs12646107 ? N/A 1 american indian ancestry individual//18 african american individuals//10 asian ancestry individuals//325 european ancestry individuals//17 hispanic individuals//10 individuals GO_0042493 N/A Associate Response to amphetamines rs12646107-? of NONHSAT099296.2 is significantly associated with the response to amphetamines by using GWAS analysis in 1 american indian ancestry individual//18 african american individuals//10 asian ancestry individuals//325 european ancestry individuals//17 hispanic individuals//10 individuals(p-value = 4E-6 ;OR = ?). 0.4 Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13). genome-wide association analysis NONHSAT099296.2 lncRNA Response to drug 0.33 TTTGTAAATA(A > C)AACTATCCTC chr4: 173594531 0.8992,0.1008 0.89251242354740061,0.10748757645259938 Region score:0.27; TSS score:0.23; Unmatched score:0.3; Average GERP:0.18405247524752477 GeneName:HAND2-AS1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000237125; TranscriptID:ENST00000515376; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001744 29058716 NONHSAT202082.1 rs3215401 A N/A 14,135 european ancestry cases//58,126 european ancestry controls; 7,333 european ancestry cases//42,468 european ancestry controls EFO_1000650 N/A Associate Breast cancer (estrogen-receptor negative) rs3215401-A of NONHSAT202082.1 is significantly associated with the breast cancer (estrogen-receptor negative) by using GWAS analysis in 14,135 european ancestry cases//58,126 european ancestry controls; 7,333 european ancestry cases//42,468 european ancestry controls(p-value = 6E-21 ;OR = 1.1363636). 0.4 Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer. genome-wide association analysis NONHSAT202082.1 lncRNA Estrogen-receptor negative breast cancer 0.33 TTTGGATCTA(A > AG)GGGGCGAGAA chr5: 1296140 0.7019,0.2981 0.74522967635066258,0.25477032364933741 N/A GeneName:TERT; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000164362; TranscriptID:ENST00000310581; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001745 27626436 H19 rs217727 A N/a 703 coal workers' pneumoconiosis cases and 705 controls. EFO_1000814 N/A No significance for risk Coal workers' pneumoconiosis rs217727-A of H19 and its dysfunction is not significantly associated with Coal Workers' Pneumoconiosis by using case-control analysis in 703 Coal Workers' Pneumoconiosis cases and 705 controls -0.4 Polymorphisms in Long Noncoding RNA H19 Contribute to the Protective Effects of Coal Workers' Pneumoconiosis in a Chinese Population.LID - 10.3390/ijerph13090903 [doi]LID - E903 [pii]AB - The H19 is a kind of long noncoding RNA, which has been case-control analysis H19 lncRNA Anthracosis -0.33 TCAACCGTCC(G > A)CCGCAGGGGG chr11: 1995678 N/A 1 Region score:0.7; TSS score:0.82; Unmatched score:0.94; Average GERP:-0.47433900495049497 GeneName:H19; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000130600; TranscriptID:ENST00000414790; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.5598; mirSVR-E:-26.23 | GeneName:LINC01219; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000232987; TranscriptID:ENST00000418612; AnnoType:DOWNSTREAM; mirSVR-Score:-0.5598; mirSVR-E:-26.23 | GeneName:MIR675; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000284010; TranscriptID:ENST00000390168; AnnoType:DOWNSTREAM; mirSVR-Score:-0.5598; mirSVR-E:-26.23 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000035875; AnnoType:REGULATORY; mirSVR-Score:-0.5598; mirSVR-E:-26.23 | GeneName:RF01972; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000275266; TranscriptID:ENST00000617997; AnnoType:UPSTREAM; mirSVR-Score:-0.5598; mirSVR-E:-26.23 | GeneName:RF01973; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000274866; TranscriptID:ENST00000620857; AnnoType:UPSTREAM; mirSVR-Score:-0.5598; mirSVR-E:-26.23 | NCRV0000001746 16251535 miR-206 chr6:52009031 T Dominant 75 patients with CLL and 160 control subjects EFO_0000095 N/A increasing risk chronic lymphocytic leukemia chr6:52009031-T of hsa-mir-206 and its dysfunction is significantly associated with the increasing risk of Chronic lymphocytic leukemia by using case-control analysis in 75 patients with CLL and 160 control subjects 0.4 A MicroRNA signature associated with prognosis and progression in chronic lymphocytic leukemia. case-control analysis hsa-mir-206 miRNA Chronic lymphocytic leukemia 0.33 GGCGGGGGGG(A > T)TTTAGGATGA chr6:52009031 - - - GeneName:MIR133BHG; CADD_Score:1; Consquence:downstream; GeneID:ENSG00000225613; TranscriptID:ENST00000418518; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR133B; CADD_Score:1; Consquence:upstream; GeneID:ENSG00000199080; TranscriptID:ENST00000362210; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR206; CADD_Score:1; Consquence:upstream; GeneID:ENSG00000207604; TranscriptID:ENST00000384872; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD_Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00001363719; AnnoType:RegulatoryFeature; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001747 25086665 NONHSAT165888.1 rs9543325 ? N/A 1,582 european ancestry cases//5,203 european ancestry controls; 6,101 european ancestry cases//9,194 european ancestry controls EFO_0002618 N/A Associate Pancreatic cancer rs9543325-? of NONHSAT165888.1 is significantly associated with the pancreatic cancer by using GWAS analysis in 1,582 european ancestry cases//5,203 european ancestry controls; 6,101 european ancestry cases//9,194 european ancestry controls(p-value = 4E-14 ;OR = 1.23). 0.4 Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer. genome-wide association analysis NONHSAT165888.1 lncRNA Pancreatic cancer 0.52 CTTGCTGCAC(C > G,T)TCTATCACAC chr13: 73342491 0.5405,.,0.4595 0.52800076452599388,0.00003185524974515,0.47196738022426095 Region score:0.36; TSS score:0.46; Unmatched score:0.39; Average GERP:-0.6144673267326732 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000063641; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000484812; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001747 20101243 NONHSAT165888.1 rs9543325 C N/A 3,851 european//chinese and other ancestry cases//3,934 european//chinese and other ancestry controls EFO_0002618 N/A Associate Pancreatic cancer rs9543325-C of NONHSAT165888.1 is significantly associated with the pancreatic cancer by using GWAS analysis in 3,851 european//chinese and other ancestry cases//3,934 european//chinese and other ancestry controls(p-value = 3E-11 ;OR = 1.26). 0.4 A genome-wide association study identifies pancreatic cancer susceptibility loci on chromosomes 13q22.1, 1q32.1 and 5p15.33. genome-wide association analysis NONHSAT165888.1 lncRNA Pancreatic cancer 0.52 CTTGCTGCAC(C > G,T)TCTATCACAC chr13: 73342491 0.5405,.,0.4595 0.52800076452599388,0.00003185524974515,0.47196738022426095 Region score:0.36; TSS score:0.46; Unmatched score:0.39; Average GERP:-0.6144673267326732 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000063641; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000484812; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001747 26098869 NONHSAT165888.1 rs9543325 ? N/A 7,638 cases//7,364 controls; 2,287 cases//4,205 controls EFO_0002618 N/A Associate Pancreatic cancer rs9543325-? of NONHSAT165888.1 is significantly associated with the pancreatic cancer by using GWAS analysis in 7,638 cases//7,364 controls; 2,287 cases//4,205 controls(p-value = 2E-10 ;OR = 1.24). 0.4 Common variation at 2p13.3, 3q29, 7p13 and 17q25.1 associated with susceptibility to pancreatic cancer. genome-wide association analysis NONHSAT165888.1 lncRNA Pancreatic cancer 0.52 CTTGCTGCAC(C > G,T)TCTATCACAC chr13: 73342491 0.5405,.,0.4595 0.52800076452599388,0.00003185524974515,0.47196738022426095 Region score:0.36; TSS score:0.46; Unmatched score:0.39; Average GERP:-0.6144673267326732 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000063641; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000484812; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001748 24782177 NONHSAT210397.1 rs7748270 T N/A 433 han chinese ancestry acpa positive cases//519 han chinese ancestry acpa negative cases//943 han chinese ancestry controls; 1,032 han chinese ancestry acpa positive cases//1,100 han chinese ancestry acpa negative cases//2,553 han chinese ancestry controls EFO_0000685 N/A Associate Rheumatoid arthritis rs7748270-T of NONHSAT210397.1 is significantly associated with the rheumatoid arthritis by using GWAS analysis in 433 han chinese ancestry acpa positive cases//519 han chinese ancestry acpa negative cases//943 han chinese ancestry controls; 1,032 han chinese ancestry acpa positive cases//1,100 han chinese ancestry acpa negative cases//2,553 han chinese ancestry controls(p-value = 1E-16 ;OR = 2.01). 0.4 Novel risk loci for rheumatoid arthritis in Han Chinese and congruence with risk variants in Europeans. genome-wide association analysis NONHSAT210397.1 lncRNA Rheumatoid arthritis 0.33 ACTTTGAGTA(C > A,G,T)GACCTTTGCA chr6: 32480822 0.5056,.,.,0.4944 0.35600630733944954,0.15106555810397553,0.00846553261977573,0.48446260193679918 Region score:0.39; TSS score:0.38; Unmatched score:0.3; Average GERP:-0.26080792079207943 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001749 26014426 NONHSAT160186.1 rs12294104 ? N/A up to 2913 european ancestry individuals HP_0012243 N/A Associate Sex hormone levels rs12294104-? of NONHSAT160186.1 is significantly associated with the sex hormone levels by using GWAS analysis in up to 2913 european ancestry individuals(p-value = 3E-7 ;OR = ?). 0.4 Genome-wide association study with 1000 genomes imputation identifies signals for nine sex hormone-related phenotypes. genome-wide association analysis NONHSAT160186.1 lncRNA Abnormal reproductive system morphology 0.33 CACACACACA(C > T)GAGAGCATGA chr11: 30361352 0.8928,0.1072 0.86691673037716615,0.13308326962283384 Region score:0.43; TSS score:0.37; Unmatched score:0.14; Average GERP:-1.3167524752475246 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001750 27863252 NONHSAT167488.1 rs6563842 T N/A 172,378 european ancestry individuals EFO_0007991 N/A Associate Eosinophil percentage of white cells rs6563842-T of NONHSAT167488.1 is significantly associated with the eosinophil percentage of white cells by using GWAS analysis in 172,378 european ancestry individuals(p-value = 2E-15 ;OR = 0.0310048). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT167488.1 lncRNA Eosinophil percentage of leukocytes 0.33 GATTACAAAA(G > A,T)AAGTTTTTCT chr13: 40670160 0.493,.,0.507 0.57133186799184505,0.01909722222222222,0.40957090978593272 Region score:0.28; TSS score:0.32; Unmatched score:0.2; Average GERP:0.23614752475247516 GeneName:FOXO1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000150907; TranscriptID:ENST00000379561; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001751 24487271 NONHSAT097958.2 rs6828740 C N/A 103 european ancestry cases//5,653 european ancestry controls HP_0012219 N/A Associate Erythema nodosum in inflammatory bowel disease rs6828740-C of NONHSAT097958.2 is significantly associated with the erythema nodosum in inflammatory bowel disease by using GWAS analysis in 103 european ancestry cases//5,653 european ancestry controls(p-value = 5E-8 ;OR = 4.14). 0.4 Clinical, serologic, and genetic factors associated with pyoderma gangrenosum and erythema nodosum in inflammatory bowel disease patients. genome-wide association analysis NONHSAT097958.2 lncRNA Erythema nodosum 0.33 ATTATCAAAA(T > C)GTCTAGGGCC chr4: 117413463 0.9519,0.04812 0.94041475535168195,0.05958524464831804 Region score:0.5; TSS score:0.09; Unmatched score:0.39; Average GERP:-0.6605762376237622 GeneName:LINC01378; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000236922; TranscriptID:ENST00000626258; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RPSAP35; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000237684; TranscriptID:ENST00000413753; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001752 22745009 NONHSAT148960.1 rs3820201 A N/A 1149 european ancestry alzheimer disease cases//336 european ancestry individuals with mild cognitive impairment//188 european ancestry controls; 419 african american alzheimer disease cases EFO_0005039 N/A Associate Hippocampal atrophy rs3820201-A of NONHSAT148960.1 is significantly associated with the hippocampal atrophy by using GWAS analysis in 1149 european ancestry alzheimer disease cases//336 european ancestry individuals with mild cognitive impairment//188 european ancestry controls; 419 african american alzheimer disease cases(p-value = 1E-6 ;OR = ?). 0.4 Multiple loci influencing hippocampal degeneration identified by genome scan. genome-wide association analysis NONHSAT148960.1 lncRNA Hippocampal atrophy 0.33 CTTTGTTGAC(A > C,G,T)AAAGGATTTT chr1: 53115998 0.3189,.,0.6811,. 0.45634238022426095,0.00002389143730886,0.54267010703363914,0.00096362130479102 Region score:0.55; TSS score:0.68; Unmatched score:0.81; Average GERP:2.3955089108910905 GeneName:AL445183.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000235563; TranscriptID:ENST00000439621; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000357731; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SLC1A7; CADD-Score:2; Consquence:intron; GeneID:ENSG00000162383; TranscriptID:ENST00000620347; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001753 28054174 NONHSAT129368.2 rs4246129 ? N/A 272 asian ancestry case-parent trios//161 asian ancestry controls//38 european ancestry cases//296 european ancestry case-parent trios//835 european ancestry controls//40 latino or african cases//34 latino or african case-parent trios//704 latino or african controls//14 case-parent trios. HP_0000175 N/A Associate Cleft palate rs4246129-? of NONHSAT129368.2 is significantly associated with the cleft palate by using GWAS analysis in 272 asian ancestry case-parent trios//161 asian ancestry controls//38 european ancestry cases//296 european ancestry case-parent trios//835 european ancestry controls//40 latino or african cases//34 latino or african case-parent trios//704 latino or african controls//14 case-parent trios.(p-value = 5E-6 ;OR = 2.0). 0.4 Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate. genome-wide association analysis NONHSAT129368.2 lncRNA Cleft palate 0.33 TGGGTCTACT(C > G,T)CAGTTCACGG chr8: 140502973 0.2316,0.7684,. 0.17039373088685015,0.80501401630988786,0.02459225280326197 Region score:0.28; TSS score:0.26; Unmatched score:0.02; Average GERP:-0.09513861386138625 GeneName:AC107375.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000259891; TranscriptID:ENST00000564464; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001754 28447399 NONHSAT168036.1 rs4772857 G N/A 140 african american cases//167 european ancestry cases//53 hispanic cases//6 cases//350 african american controls//276 european ancestry controls//46 hispanic controls//11 controls EFO_0007998 HIV-1 infection (dichotomous) Associate Neurocognitive impairment in hiv-1 infection (dichotomous) rs4772857-G of NONHSAT168036.1 is significantly associated with the neurocognitive impairment in hiv-1 infection (dichotomous) by using GWAS analysis in 140 african american cases//167 european ancestry cases//53 hispanic cases//6 cases//350 african american controls//276 european ancestry controls//46 hispanic controls//11 controls(p-value = 2E-6 ;OR = 1.604). 0.4 Genome-wide association study of HIV-associated neurocognitive disorder (HAND): A CHARTER group study. genome-wide association analysis NONHSAT168036.1 lncRNA Cognitive impairment measurement 0.33 TTGGAGTATG(A > G)AGAAAATCCA chr13: 107165321 0.4696,0.5304 0.49675872833843017,0.50324127166156982 Region score:0.3; TSS score:0.22; Unmatched score:0.07; Average GERP:-1.099742574257426 GeneName:FAM155A; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000204442; TranscriptID:ENST00000375915; AnnoType:3PRIME_UTR; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001755 25199915 NONHSAT158874.1 rs11023737 ? N/A 6,036 european ancestry cases//3,757 european ancestry controls EFO_0004300 N/A Associate Longevity (90 years and older) rs11023737-? of NONHSAT158874.1 is significantly associated with the longevity (90 years and older) by using GWAS analysis in 6,036 european ancestry cases//3,757 european ancestry controls(p-value = 4E-6 ;OR = 1.2048193). 0.4 GWAS of longevity in CHARGE consortium confirms APOE and FOXO3 candidacy. genome-wide association analysis NONHSAT158874.1 lncRNA Longevity 0.33 CAAATGTGCT(T > A)CTCAGAGCTC chr11: 15843741 0.854,0.146 0.78273923292558613,0.21726076707441386 Region score:0.68; TSS score:0.64; Unmatched score:0.47; Average GERP:5.266930693069303 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000424569; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000424570; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001756 21102463 NONHSAT202943.1 rs2549794 C N/A 6,333 european ancestry cases//15,056 european ancestry controls; 15,694 european ancestry cases//14,026 european ancestry controls//414 european ancestry trios EFO_0000384 N/A Associate Crohn's disease rs2549794-C of NONHSAT202943.1 is significantly associated with the crohn's disease by using GWAS analysis in 6,333 european ancestry cases//15,056 european ancestry controls; 15,694 european ancestry cases//14,026 european ancestry controls//414 european ancestry trios(p-value = 1E-10 ;OR = 1.05). 0.4 Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. genome-wide association analysis NONHSAT202943.1 lncRNA Crohn's disease 0.33 AACTGAATGG(C > T)CCAGCTATAA chr5: 96908845 0.3403,0.6597 0.37343112895005096,0.62656887104994903 Region score:0.25; TSS score:0.1; Unmatched score:0.05; Average GERP:0.3017233960396039 GeneName:AC009126.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000247121; TranscriptID:ENST00000501338; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ERAP2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000164308; TranscriptID:ENST00000437043; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001757 27424800 mir-137 rs61786697 ? N/A Schizophrenias EFO_0000692 N/A increasing risk schizophrenia rs61786697-? of hsa-mir-137 and its dysfunction is significantly associated with the increasing risk of Schizophrenia by using genome-wide association analysis in Schizophrenias 0.4 Schizophrenia risk variants affecting microRNA function and site-specific regulation of NT5C2 by miR-206. genome-wide association analysis hsa-mir-137 miRNA Schizophrenia 0.33 ACCTGGACGA(A > G)TGGACAGCTC chr1: 98048403 0.07388,0.9261 0.07974165392456676,0.92025834607543323 Region score:0.46; TSS score:0.5; Unmatched score:0.79; Average GERP:2.2278960396039595 GeneName:AC104453.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000285922; TranscriptID:ENST00000648602; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR137; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284202; TranscriptID:ENST00000385223; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR137HG; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000225206; TranscriptID:ENST00000634594; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR2682; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284247; TranscriptID:ENST00000580305; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000010436; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000366416; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001758 26068415 NONHSAT188483.1 rs680379 A N/A up to 7,478 european ancestry individuals; 1,182 european ancestry individuals EFO_0007630 N/A Associate Glycerophospholipid levels rs680379-A of NONHSAT188483.1 is significantly associated with the glycerophospholipid levels by using GWAS analysis in up to 7,478 european ancestry individuals; 1,182 european ancestry individuals(p-value = 2E-21 ;OR = 0.0441). 0.4 Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels. genome-wide association analysis NONHSAT188483.1 lncRNA Glycerophospholipid measurement 0.33 AAGCCACAAC(A > G,T)TTGATTCAAG chr20: 12988752 0.2917,0.7083,. 0.31064443170234454,0.68841583843017329,0.00093972986748216 Region score:0.35; TSS score:0.17; Unmatched score:0.03; Average GERP:-0.7529178217821783 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001759 20708005 NONHSAT032705.2 rs1305088 A N/A 236 european ancestry cases EFO_0003095 N/A Associate Non-alcoholic fatty liver disease histology (other) rs1305088-A of NONHSAT032705.2 is significantly associated with the non-alcoholic fatty liver disease histology (other) by using GWAS analysis in 236 european ancestry cases(p-value = 9E-6 ;OR = 0.58). 0.4 Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease. genome-wide association analysis NONHSAT032705.2 lncRNA Non-alcoholic fatty liver disease 0.33 CTCCTTGGAC(T > C)TGATGTGAGA chr13: 28704313 0.2292,0.7708 0.15757199286442405,0.84242800713557594 Region score:0.46; TSS score:0.22; Unmatched score:0.58; Average GERP:-0.6638227722772279 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000477060; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RNU6-53P; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000202237; TranscriptID:ENST00000365367; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SLC46A3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000139508; TranscriptID:ENST00000380814; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001760 27863252 NONHSAT210156.1 rs9392465 A N/A 171,529 european ancestry individuals EFO_0005192 N/A Associate Red cell distribution width rs9392465-A of NONHSAT210156.1 is significantly associated with the red cell distribution width by using GWAS analysis in 171,529 european ancestry individuals(p-value = 1E-13 ;OR = 0.02830543). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT210156.1 lncRNA Red blood cell distribution width 0.33 TCCCCATAAT(C > A)TGAGGTGTCC chr6: 3162144 0.5228,0.4772 0.43628153669724770,0.56371846330275229 Region score:0.32; TSS score:0.41; Unmatched score:0.57; Average GERP:-0.13874851485148512 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000781131; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TUBB2A; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000137267; TranscriptID:ENST00000333628; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001761 22307873 let-7 rs61764370 ? N/a 150 women with endometriosis EFO_0001065 N/A Increasing risk Endometriosis rs61764370-? of let-7 and its dysfunction is significantly associated with the increasing risk of endometriosis by using analysis of sequence variation in 150 women with endometriosis. By using the disease cell lines or tissues, the interference and mutation of let-7 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. Moreover, the ncRNA variation-disease association was validated by complex experiments. 1.4 A polymorphism in a let-7 microRNA binding site of KRAS in women with endometriosis. analysis of sequence variation; Function; Mechanism hsa-let-7a-1 miRNA Endometriosis 0.753 AAGGTGGGTG(A > C)ATCACTTGAG chr12: 25207290 0.9653,0.03474 0.93713366462793068,0.06286633537206931 Region score:0.55; TSS score:0.62; Unmatched score:0.6; Average GERP:0.16988118811881203 GeneName:AC092794.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000274987; TranscriptID:ENST00000612734; AnnoType:UPSTREAM; mirSVR-Score:-0.0434; mirSVR-E:-18.44 | GeneName:ETFRF1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000205707; TranscriptID:ENST00000381356; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0434; mirSVR-E:-18.44 | GeneName:KRAS; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000133703; TranscriptID:ENST00000256078; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0434; mirSVR-E:-18.44 | NCRV0000001762 28334899 NONHSAT010304.2 rs2587534 A N/A 32,285 east asian ancestry individuals//173,082 european ancestry individuals; 8,478 chinese ancestry individuals EFO_0000319 N/A Associate Ldl cholesterol levels rs2587534-A of NONHSAT010304.2 is significantly associated with the ldl cholesterol levels by using GWAS analysis in 32,285 east asian ancestry individuals//173,082 european ancestry individuals; 8,478 chinese ancestry individuals(p-value = 2E-23 ;OR = 0.0391). 0.4 Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels. genome-wide association analysis NONHSAT010304.2 lncRNA Cardiovascular disease 0.33 TCATGGGGAC(G > A)AGGCAGAATC chr1: 234713592 0.266,0.734 0.33949732415902140,0.66050267584097859 Region score:0.26; TSS score:0.29; Unmatched score:0.29; Average GERP:-0.6841069306930694 GeneName:AL160408.6; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000282097; TranscriptID:ENST00000632063; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001763 28991256 NONHSAT178124.1 rs28735056 G N/A 7,699 chinese ancestry cases//35,476 european ancestry cases//18,327 chinese ancestry controls//46,839 european ancestry controls; 4,384 chinese ancestry cases//5,770 chinese ancestry controls EFO_0000692 N/A Associate Schizophrenia rs28735056-G of NONHSAT178124.1 is significantly associated with the schizophrenia by using GWAS analysis in 7,699 chinese ancestry cases//35,476 european ancestry cases//18,327 chinese ancestry controls//46,839 european ancestry controls; 4,384 chinese ancestry cases//5,770 chinese ancestry controls(p-value = 5E-10 ;OR = 1.0626993). 0.4 Genome-wide association analysis identifies 30 new susceptibility loci for schizophrenia. genome-wide association analysis NONHSAT178124.1 lncRNA Schizophrenia 0.33 TCCTAGTCAA(A > G)GAGTCCTGTA chr18: 79862879 0.6094,0.3906 0.65725344036697247,0.34274655963302752 Region score:0.39; TSS score:0.35; Unmatched score:0.6; Average GERP:-0.19035643564356455 GeneName:KCNG2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000178342; TranscriptID:ENST00000316249; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001764 23251661 NONHSAT206072.1 rs17668565 G N/A 815 hispanic children from 263 families EFO_0005093 N/A Associate Obesity-related traits rs17668565-G of NONHSAT206072.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 7E-6 ;OR = 0.02). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. genome-wide association analysis NONHSAT206072.1 lncRNA Hip circumference 0.33 TGACTAAGGC(T > A,C)TAAATTCCAA chr5: 92818872 0.6346,.,0.3654 0.55580243374108053,0.00001592762487257,0.44418163863404689 Region score:0.39; TSS score:0.34; Unmatched score:0.13; Average GERP:0.1944217821782178 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001765 19293314 has-miR-146a rs2910164 C N/A 1,058 incident lung cancer patients and 1,035 cancer-free controls EFO_0001071 N/A no significance for risk lung carcinoma rs2910164-C of hsa-mir-146a and its dysfunction is not significantly associated with Lung carcinoma by using case-control analysis in 1,058 incident lung cancer patients and 1,035 cancer-free controls -0.4 A functional genetic variant in microRNA-196a2 is associated with increased susceptibility of lung cancer in Chinese. case-control analysis hsa-mir-146a miRNA Lung carcinoma 0.565 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 0 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001765 27911870 miR-146a rs2910164 C Recessive 1131 patients with lung cancer and 1003 healthy control subjects EFO_0001071 N/A increasing risk lung carcinoma rs2910164-C of hsa-mir-146a and its dysfunction is significantly associated with the increasing risk of Lung carcinoma by using case-control analysis in 1131 patients with lung cancer and 1003 healthy control subjects 0.9 MiR-146a polymorphism correlates with lung cancer risk in Chinese nonsmoking females. case-control analysis hsa-mir-146a miRNA Lung carcinoma 0.565 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 0 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001765 26235181 miR-146a rs2910164 C Dominant 250 lung cancer cases and 255 controls EFO_0001071 N/A increasing risk lung carcinoma rs2910164-C of hsa-mir-146a and its dysfunction is significantly associated with the increasing risk of Lung carcinoma by using case-control analysis in 250 lung cancer cases and 255 controls 0.4 Functional genetic variants in pre-miR-146a and 196a2 genes are associated with risk of lung cancer in North Indians. case-control analysis hsa-mir-146a miRNA Lung carcinoma 0.565 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 0 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001765 26973201 miR-146a rs2910164 G Dominant 575 patients with lung cancer and 608 healthy controls EFO_0001071 N/A decreasing risk lung carcinoma rs2910164-G of hsa-mir-146a and its dysfunction is significantly associated with the decreasing risk of Lung carcinoma by using case-control analysis in 575 patients with lung cancer and 608 healthy controls 0.4 Association between polymorphisms in pre-miRNA genes and risk of lung cancer in a Chinese non-smoking female population. case-control analysis hsa-mir-146a miRNA Lung carcinoma 0.565 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 0 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001766 27989323 NONHSAT012715.2 rs76606916 G N/A 3,531 finnish ancestry individuals EFO_0005140 N/A Associate Beta-nerve growth factor levels rs76606916-G of NONHSAT012715.2 is significantly associated with the beta-nerve growth factor levels by using GWAS analysis in 3,531 finnish ancestry individuals(p-value = 9E-6 ;OR = 0.6358). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. genome-wide association analysis NONHSAT012715.2 lncRNA Autoimmune disease 0.33 AAGAACAAAA(G > T)TACAAGGTCT chr10: 35098010 0.9892,0.01078 0.98820559378185524,0.01179440621814475 Region score:0.4; TSS score:0.28; Unmatched score:0.46; Average GERP:-0.608065346534653 GeneName:AL392046.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000230534; TranscriptID:ENST00000450742; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001767 27171184 NONHSAT168833.1 rs4905138 ? N/A 11 taiwanese ancestry cases//146 taiwanese ancestry controls EFO_0004246 N/A Associate Coronary artery aneurysm in kawasaki disease rs4905138-? of NONHSAT168833.1 is significantly associated with the coronary artery aneurysm in kawasaki disease by using GWAS analysis in 11 taiwanese ancestry cases//146 taiwanese ancestry controls(p-value = 8E-6 ;OR = 12.76). 0.4 Genome-Wide Association Study Identifies Novel Susceptibility Genes Associated with Coronary Artery Aneurysm Formation in Kawasaki Disease. genome-wide association analysis NONHSAT168833.1 lncRNA Mucocutaneous lymph node syndrome 0.33 CCTGGTAAAC(G > A,T)TTGGCCATTA chr14: 94000011 N/A 0.50416507390417940,0.48988595820591233,0.00594896788990825 Region score:0.13; TSS score:0.26; Unmatched score:0.32; Average GERP:-1.3028990099009905 GeneName:CCDC197; CADD-Score:2; Consquence:intron; GeneID:ENSG00000175699; TranscriptID:ENST00000636493; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000505979; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001768 27569725 NONHSAT006652.2 rs3766920 A N/A 1,505 korean ancestry cases//4,041 korean ancestry controls; 1,989 korean ancestry cases//3,491 korean ancestry controls EFO_0003767 N/A Associate Inflammatory bowel disease rs3766920-A of NONHSAT006652.2 is significantly associated with the inflammatory bowel disease by using GWAS analysis in 1,505 korean ancestry cases//4,041 korean ancestry controls; 1,989 korean ancestry cases//3,491 korean ancestry controls(p-value = 2E-9 ;OR = 1.35). 0.4 Identification of Loci at 1q21 and 16q23 That Affect Susceptibility to Inflammatory Bowel Disease in Koreans. genome-wide association analysis NONHSAT006652.2 lncRNA Inflammatory bowel disease 0.33 GCCTGTAGAA(G > A)GTACTCAGGA chr1: 154962487 0.99,0.009984 0.99591456422018348,0.00408543577981651 Region score:0.46; TSS score:0.48; Unmatched score:0.91; Average GERP:-1.9159125544554456 GeneName:AL451085.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000271380; TranscriptID:ENST00000605085; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0365; mirSVR-E:-19.32 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000014005; AnnoType:REGULATORY; mirSVR-Score:-0.0365; mirSVR-E:-19.32 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000373555; AnnoType:REGULATORY; mirSVR-Score:-0.0365; mirSVR-E:-19.32 | GeneName:PYGO2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000163348; TranscriptID:ENST00000368457; AnnoType:UPSTREAM; mirSVR-Score:-0.0365; mirSVR-E:-19.32 | GeneName:SHC1; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000160691; TranscriptID:ENST00000448116; AnnoType:3PRIME_UTR; mirSVR-Score:-0.0365; mirSVR-E:-19.32 | NCRV0000001769 28739976 NONHSAT169223.1 rs8904 A N/A 150,134 european ancestry individuals; 87,359 european ancestry individuals//140,886 european and unknown ancestry individuals EFO_0000319 N/A Associate Systolic blood pressure rs8904-A of NONHSAT169223.1 is significantly associated with the systolic blood pressure by using GWAS analysis in 150,134 european ancestry individuals; 87,359 european ancestry individuals//140,886 european and unknown ancestry individuals(p-value = 1E-12 ;OR = 0.311). 0.4 Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.LID - HYPERTENSIONAHA.117.09438 [pii]LID - 10.1161/HYPERTENSIONAHA.117.09438 [doi]AB - Elevated blood pressure genome-wide association analysis NONHSAT169223.1 lncRNA Cardiovascular disease 0.33 GCCCCTTTGC(G > A,C,T)CTCATAACGT chr14: 35402011 0.5521,0.4479,.,. 0.55718017329255861,0.43741239806320081,0.00289086391437308,0.00251656472986748 Region score:0.47; TSS score:0.61; Unmatched score:0.82; Average GERP:3.1068712871287136 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000067656; AnnoType:REGULATORY; mirSVR-Score:-0.4071; mirSVR-E:-15.50 | GeneName:NFKBIA; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000100906; TranscriptID:ENST00000216797; AnnoType:3PRIME_UTR; mirSVR-Score:-0.4071; mirSVR-E:-15.50 | NCRV0000001770 27863252 NONHSAT055443.2 rs60432162 C N/A 172,275 european ancestry individuals EFO_0004842 N/A Associate Eosinophil counts rs60432162-C of NONHSAT055443.2 is significantly associated with the eosinophil counts by using GWAS analysis in 172,275 european ancestry individuals(p-value = 6E-19 ;OR = 0.04065155). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT055443.2 lncRNA Eosinophil count 0.33 TGGCCCCTCC(CT > C)TTTTTTTTTT chr17: 67884421 0.5463,0.4537 0.66099643221202854,0.33900356778797145 N/A GeneName:BPTF; CADD-Score:2; Consquence:intron; GeneID:ENSG00000171634; TranscriptID:ENST00000306378; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001771 25231870 NONHSAT143379.2 rs929843 A N/A up to 182,413 european ancestry females EFO_0004703 N/A Associate Menarche (age at onset) rs929843-A of NONHSAT143379.2 is significantly associated with the menarche (age at onset) by using GWAS analysis in up to 182,413 european ancestry females(p-value = 1E-11 ;OR = 0.04). 0.4 Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. genome-wide association analysis NONHSAT143379.2 lncRNA Age at menarche 0.33 TCTCACCCAG(A > C)GATTCAGCGC chr16: 70011845 0.1256,0.8744 0.15316800458715596,0.84683199541284403 Region score:0.39; TSS score:0.35; Unmatched score:0.69; Average GERP:-0.014038217821782478 GeneName:PDXDC2P; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000255185; TranscriptID:ENST00000534700; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PDXDC2P-NPIPB14P; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000196696; TranscriptID:ENST00000531894; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001772 27951730 GAS5 rs55829688 C Recessive 313 aml patients EFO_0000222 N/A Poor prognosis Acute myeloid leukemia rs55829688-C of GAS5 and its dysfunction is significantly associated with the poor prognosis of acute myeloid leukemia by using analysis of sequence variation in 313 AML patients. By using the disease cell lines or tissues, the mutation of GAS5 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. Moreover, the ncRNA variation-disease association was validated by complex experiments. 1.4 Long non-coding RNA GAS5 polymorphism predicts a poor prognosis of acute myeloid leukemia in Chinese patients via affecting hematopoietic reconstitution. analysis of sequence variation; Function; Mechanism GAS5 lncRNA Acute myeloid leukemia 0.753 CTCGCCATTG(T > C,G)GGGCAGAGAC chr1: 173868168 0.7929,0.2071,. 0.79178612385321100,0.20820591233435270,0.00000796381243628 Region score:0.5; TSS score:0.37; Unmatched score:0.97; Average GERP:-0.7597489009900987 GeneName:GAS5-AS1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000270084; TranscriptID:ENST00000602767; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GAS5; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000234741; TranscriptID:ENST00000431268; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000015994; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ZBTB37; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000185278; TranscriptID:ENST00000367701; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001773 25673413 NONHSAT141865.2 rs9925964 A N/A up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals EFO_0001073 N/A Associate Body mass index rs9925964-A of NONHSAT141865.2 is significantly associated with the body mass index by using GWAS analysis in up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals(p-value = 2E-6 ;OR = 0.02). 0.4 Genetic studies of body mass index yield new insights for obesity biology. genome-wide association analysis NONHSAT141865.2 lncRNA Obesity 0.451 CCCTTCAGGC(A > G)AAGTGAGTGG chr16: 31118574 0.6406,0.3594 0.66471553261977573,0.33528446738022426 Region score:0.33; TSS score:0.36; Unmatched score:0.8; Average GERP:0.7661176237623765 GeneName:AC135050.5; CADD-Score:5; Consquence:splice,non_coding_exon; GeneID:ENSG00000262766; TranscriptID:ENST00000576336; AnnoType:SPLICE_SITE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC135050.6; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000278133; TranscriptID:ENST00000610813; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:KAT8; CADD-Score:2; Consquence:intron; GeneID:ENSG00000103510; TranscriptID:ENST00000448516; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000085305; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001773 28443625 NONHSAT141865.2 rs9925964 A N/A 98,173 european ancestry women//64,373 european ancestry men//5,829 european ancestry individuals//10,500 african american/afro-caribbean ancestry women//2,706 african american/afro-caribbean ancestry men//1,030 indian asian ancestry women//7,648 indian asian ancestry men//1,793 filipino ancestry women//2,944 hispanic/latino ancestry women//1,764 hispanic/latino ancestry men; 21,496 european ancestry women//24,385 european ancestry men//118,364 european ancestry individuals//2,326 african american/afro-caribbean ancestry women//855 african american/afro-caribbean ancestry men EFO_0001073 adjusted for smoking behaviour Associate Bmi (adjusted for smoking behaviour) rs9925964-A of NONHSAT141865.2 is significantly associated with the bmi (adjusted for smoking behaviour) by using GWAS analysis in 98,173 european ancestry women//64,373 european ancestry men//5,829 european ancestry individuals//10,500 african american/afro-caribbean ancestry women//2,706 african american/afro-caribbean ancestry men//1,030 indian asian ancestry women//7,648 indian asian ancestry men//1,793 filipino ancestry women//2,944 hispanic/latino ancestry women//1,764 hispanic/latino ancestry men; 21,496 european ancestry women//24,385 european ancestry men//118,364 european ancestry individuals//2,326 african american/afro-caribbean ancestry women//855 african american/afro-caribbean ancestry men(p-value = 5E-8 ;OR = 0.0185). 0.4 Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits. genome-wide association analysis NONHSAT141865.2 lncRNA Obesity 0.451 CCCTTCAGGC(A > G)AAGTGAGTGG chr16: 31118574 0.6406,0.3594 0.66471553261977573,0.33528446738022426 Region score:0.33; TSS score:0.36; Unmatched score:0.8; Average GERP:0.7661176237623765 GeneName:AC135050.5; CADD-Score:5; Consquence:splice,non_coding_exon; GeneID:ENSG00000262766; TranscriptID:ENST00000576336; AnnoType:SPLICE_SITE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC135050.6; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000278133; TranscriptID:ENST00000610813; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:KAT8; CADD-Score:2; Consquence:intron; GeneID:ENSG00000103510; TranscriptID:ENST00000448516; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000085305; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001774 24468470 NONHSAT081780.2 rs9980664 ? N/A 5,765 european ancestry individuals//890 african american individuals HP_0100543 N/A Associate Cognitive decline (age-related) rs9980664-? of NONHSAT081780.2 is significantly associated with the cognitive decline (age-related) by using GWAS analysis in 5,765 european ancestry individuals//890 african american individuals(p-value = 3E-6 ;OR = 0.0272). 0.4 Genetic susceptibility to accelerated cognitive decline in the US Health and Retirement Study. genome-wide association analysis NONHSAT081780.2 lncRNA Cognitive impairment 0.33 CCAAGGAAAT(C > A)GAGGATGGGG chr21: 33362204 0.7456,0.2544 0.80060206422018348,0.19939793577981651 Region score:0.37; TSS score:0.37; Unmatched score:0.6; Average GERP:0 GeneName:IFNAR1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000142166; TranscriptID:ENST00000270139; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000300159; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000661656; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001775 20881960 NONHSAT188882.1 rs237743 A N/A 133,653 european ancestry individuals; 50,074 european ancestry individuals EFO_0004339 N/A Associate Height rs237743-A of NONHSAT188882.1 is significantly associated with the height by using GWAS analysis in 133,653 european ancestry individuals; 50,074 european ancestry individuals(p-value = 1E-20 ;OR = 0.041). 0.4 Hundreds of variants clustered in genomic loci and biological pathways affect human height. genome-wide association analysis NONHSAT188882.1 lncRNA Body height 0.33 GCATAATGAA(G > A)GTTTGGTGTG chr20: 49286482 0.8253,0.1747 0.77674248216106014,0.22325751783893985 Region score:0.26; TSS score:0.27; Unmatched score:0.44; Average GERP:0.03653571428571428 GeneName:ZFAS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000177410; TranscriptID:ENST00000371743; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001776 28054174 NONHSAT154533.1 rs1109430 ? N/A 83 asian ancestry cases//1,445 asian ancestry case-parent trios//161 asian ancestry controls//208 european ancestry cases//1,284 european ancestry case-parent trios//835 european ancestry controls//610 latino or african cases//663 latino or african case-parent trios//704 latino or african controls//35 case-parent trios. MONDO_0000358 N/A Associate Orofacial clefts rs1109430-? of NONHSAT154533.1 is significantly associated with the orofacial clefts by using GWAS analysis in 83 asian ancestry cases//1,445 asian ancestry case-parent trios//161 asian ancestry controls//208 european ancestry cases//1,284 european ancestry case-parent trios//835 european ancestry controls//610 latino or african cases//663 latino or african case-parent trios//704 latino or african controls//35 case-parent trios.(p-value = 1E-21 ;OR = 1.82). 0.4 Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate. genome-wide association analysis NONHSAT154533.1 lncRNA Orofacial cleft 0.33 N/A N/A N/A N/A N/A N/A NCRV0000001777 27863252 NONHSAT211335.1 rs2451279 G N/A 169,219 european ancestry individuals EFO_0007988 N/A Associate Myeloid white cell count rs2451279-G of NONHSAT211335.1 is significantly associated with the myeloid white cell count by using GWAS analysis in 169,219 european ancestry individuals(p-value = 8E-12 ;OR = 0.02576397). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT211335.1 lncRNA Myeloid white cell count 0.33 CATGGAGAAG(A > G)GCTGGCTCAG chr6: 159094045 0.1889,0.8111 0.26914500509683995,0.73085499490316004 Region score:0.2; TSS score:0.32; Unmatched score:0.32; Average GERP:-1.5931219801980196 GeneName:AL035530.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000226032; TranscriptID:ENST00000645980; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AL356417.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000224478; TranscriptID:ENST00000642586; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AL356417.3; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000285492; TranscriptID:ENST00000642829; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001778 27863252 NONHSAT151288.1 rs1043879 C N/A 172,851 european ancestry individuals EFO_0004527 N/A Associate Mean corpuscular hemoglobin concentration rs1043879-C of NONHSAT151288.1 is significantly associated with the mean corpuscular hemoglobin concentration by using GWAS analysis in 172,851 european ancestry individuals(p-value = 3E-13 ;OR = 0.02916971). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT151288.1 lncRNA Mean corpuscular hemoglobin 0.33 GGTAGGTTTT(T > C)CATTGGGATT chr1: 25243590 0.8922,0.1078 0.82536952089704383,0.17463047910295616 Region score:0.44; TSS score:0.49; Unmatched score:0.7; Average GERP:2.254564356435643 GeneName:AL031432.3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000272432; TranscriptID:ENST00000607698; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AL031432.5; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000284657; TranscriptID:ENST00000641059; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RSRP1; CADD-Score:7; Consquence:missense; GeneID:ENSG00000117616; TranscriptID:ENST00000243189; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001779 25673413 NONHSAT180304.1 rs17513613 C N/A up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals EFO_0001073 N/A Associate Body mass index rs17513613-C of NONHSAT180304.1 is significantly associated with the body mass index by using GWAS analysis in up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals(p-value = 3E-6 ;OR = 0.015). 0.4 Genetic studies of body mass index yield new insights for obesity biology. genome-wide association analysis NONHSAT180304.1 lncRNA Obesity 0.33 CTTGGAGCTT(T > C)CTTGCTTTTG chr19: 29795915 0.8323,0.1677 0.76934410040774719,0.23065589959225280 Region score:0.68; TSS score:0.7; Unmatched score:0.42; Average GERP:2.5606356435643574 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000587773; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001780 27863252 NONHSAT190536.1 rs779314480 C N/A 164,454 european ancestry individuals EFO_0004584 N/A Associate Mean platelet volume rs779314480-C of NONHSAT190536.1 is significantly associated with the mean platelet volume by using GWAS analysis in 164,454 european ancestry individuals(p-value = 4E-34 ;OR = 0.04692771). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT190536.1 lncRNA Mean platelet volume 0.33 AATCCAGTCC(CT > C)TTTTTTTTTT chr20: 59010965 N/A 1 N/A GeneName:CTSZ; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000101160; TranscriptID:ENST00000217131; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001781 28441456 NONHSAT187287.1 rs62158800 T N/A 2,187 european ancestry individuals EFO_0007841 N/A Associate Facial morphology (factor 22) rs62158800-T of NONHSAT187287.1 is significantly associated with the facial morphology (factor 22) by using GWAS analysis in 2,187 european ancestry individuals(p-value = 2E-6 ;OR = 0.2694). 0.4 Genome-wide association study of facial morphology reveals novel associations with FREM1 and PARK2. genome-wide association analysis NONHSAT187287.1 lncRNA Facial morphology measurement 0.33 AAAGACACAC(C > G,T)GCTATGATTC chr2: 107585523 0.9113,.,0.08866 0.92171572375127420,0.00000796381243628,0.07827631243628950 Region score:0.23; TSS score:0.16; Unmatched score:0.09; Average GERP:0.06840594059405937 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001782 26852168 mir-146a rs2910164 G Dominant 165 patients with chronic pancreatitis and 200 healthy controls EFO_0000342 N/A Increasing risk Chronic pancreatitis rs2910164-G of mir-146a and its dysfunction is significantly associated with the increasing risk of chronic pancreatitis by using case-control analysis in 165 patients with chronic pancreatitis and 200 healthy controls. By using the disease cell lines or tissues, the mutation of mir-146a has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 Association between microRNA polymorphisms and chronic pancreatitis. case-control analysis; Function hsa-mir-146a miRNA Chronic pancreatitis 0.593 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 N/A 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001783 26670097 miR-4519 rs897984 C Dominant 13,708 pd cases (39% female) and 95,282 controls (46% female) EFO_0002508 N/A Decreasing risk Parkinson disease rs897984-C of miR-4519 and its dysfunction is significantly associated with the decreasing risk of Parkinson disease by using case-control analysis in 13,708 PD cases (39% female) and 95,282 controls (46% female) . By using the disease cell lines or tissues, the interference and mutation of miR-4519 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 Genetic Variants in MicroRNAs and Their Binding Sites Are Associated with the Risk of Parkinson Disease. case-control analysis; Function hsa-mir-4519 miRNA Parkinson's disease 0.593 ACTGCTGAGG(T > C)TGCCCGAGGT chr16: 30875322 0.5425,0.4575 0.51220852446483180,0.48779147553516819 Region score:0.51; TSS score:0.34; Unmatched score:0.78; Average GERP:-1.4087405940594058 GeneName:AC135048.2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000262721; TranscriptID:ENST00000572471; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:BCL7C; CADD-Score:2; Consquence:intron; GeneID:ENSG00000099385; TranscriptID:ENST00000380317; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR4519; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000265991; TranscriptID:ENST00000579767; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR762HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000260083; TranscriptID:ENST00000570025; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000085261; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001784 23251661 NONHSAT184149.1 rs2193071 A N/A 815 hispanic children from 263 families EFO_0003940 N/A Associate Obesity-related traits rs2193071-A of NONHSAT184149.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 4E-6 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. genome-wide association analysis NONHSAT184149.1 lncRNA Physical activity 0.33 CATCTTTCCA(G > A)CCAATCCCAT chr2: 7896129 0.976,0.02396 0.97871272935779816,0.02128727064220183 Region score:0.34; TSS score:0.21; Unmatched score:0.44; Average GERP:-0.3408712871287128 GeneName:AC007463.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000226506; TranscriptID:ENST00000416534; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001785 27863252 NONHSAT206735.1 rs2326837 G N/A 171,643 european ancestry individuals EFO_0004587 N/A Associate Lymphocyte counts rs2326837-G of NONHSAT206735.1 is significantly associated with the lymphocyte counts by using GWAS analysis in 171,643 european ancestry individuals(p-value = 1E-11 ;OR = 0.02535951). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT206735.1 lncRNA Lymphocyte count 0.33 AAATAAGATG(A > G)AGCGGTAAGA chr6: 6901426 0.7216,0.2784 0.71019686544342507,0.28980313455657492 Region score:0.3; TSS score:0.48; Unmatched score:0.8; Average GERP:-0.4024213861386138 GeneName:AL158817.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000223342; TranscriptID:ENST00000422310; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000782189; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001786 28183528 NONHSAT179794.1 rs483082 T N/A 13,100 european ancestry cases//13,220 european ancestry controls//1,472 african american cases//3,511 african american controls//951 japanese ancestry cases//894 japanese ancestry controls//51 israeli-arab ancestry cases//64 israeli-arab ancestry controls; 5,813 european ancestry cases//20,474 european ancestry controls EFO_0000249 N/A Associate Alzheimer's disease rs483082-T of NONHSAT179794.1 is significantly associated with the alzheimer's disease by using GWAS analysis in 13,100 european ancestry cases//13,220 european ancestry controls//1,472 african american cases//3,511 african american controls//951 japanese ancestry cases//894 japanese ancestry controls//51 israeli-arab ancestry cases//64 israeli-arab ancestry controls; 5,813 european ancestry cases//20,474 european ancestry controls(p-value = 1E-15 ;OR = 2.8). 0.4 Transethnic genome-wide scan identifies novel Alzheimer's disease loci. genome-wide association analysis NONHSAT179794.1 lncRNA Alzheimers disease 0.33 CCCTGGGGCT(G > T)ACAGGGACTG chr19: 44912921 0.734,0.266 0.72092412079510703,0.27907587920489296 Region score:0.45; TSS score:0.58; Unmatched score:0.73; Average GERP:0.058336633663366284 GeneName:AC011481.3; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000280087; TranscriptID:ENST00000623895; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:APOC1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000130208; TranscriptID:ENST00000588750; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:APOE; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000130203; TranscriptID:ENST00000252486; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000591180; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001787 24643999 miR-10b rs6736786 G N/A 365 gastric cancer cases and 1,284 matched controls within the European Prospective Investigation into Cancer and Nutrition cohort EFO_0000178 N/A increasing risk gastric carcinoma rs6736786-G of hsa-mir-10b and its dysfunction is significantly associated with the increasing risk of Gastric carcinoma by using case-control analysis in 365 gastric cancer cases and 1,284 matched controls within the European Prospective Investigation into Cancer and Nutrition cohort 0.4 Genetic association of gastric cancer with miRNA clusters including the cancer-related genes MIR29, MIR25, MIR93 and MIR106: results from the EPIC-EURGAST study. case-control analysis hsa-mir-10b miRNA Gastric carcinoma 0.33 GTAGGCCACA(A > G)TAAAGGTTGC chr2: 176144186 0.5196,0.4804 0.49461646279306829,0.50538353720693170 Region score:0.25; TSS score:0.31; Unmatched score:0.19; Average GERP:0.15204693069306935 GeneName:HOXD3; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000128652; TranscriptID:ENST00000459979; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001788 18356149 let-7e rs149622487 A Dominant >100 human tumor tissues and 20 cancer cell lines EFO_0001663 N/A Increasing risk Prostate cancer rs149622487-A of let-7e and its dysfunction is significantly associated with the increasing risk of prostate cancer by using case-control analysis in >100 human tumor tissues and 20 cancer cell lines. By using the disease cell lines or tissues, the mutation of let-7e has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 Genetic variations of microRNAs in human cancer and their effects on the expression of miRNAs. case-control analysis; Function hsa-let-7e miRNA Prostate cancer 0.593 TGCACGGGAC(G > A)GGGCCCGGCG chr19: 51692883 0.9932,0.006789 0.99663927115188583,0.00336072884811416 Region score:0.26; TSS score:0.52; Unmatched score:0.74; Average GERP:1.3471921782178222 GeneName:MIR125A; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000208008; TranscriptID:ENST00000385273; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR99B; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207550; TranscriptID:ENST00000384819; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIRLET7E; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000198972; TranscriptID:ENST00000362102; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SPACA6; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000182310; TranscriptID:ENST00000637797; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SPACA6P-AS; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000269959; TranscriptID:ENST00000602324; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001789 23555923 hsa-mir-105-1 rs5970293 ? N/a 191 patients with tnbc and 192 healthy female controls EFO_0005537 N/A No significance for risk Triple-negative breast cancer rs5970293-? of hsa-mir-105-1 and its dysfunction is not significantly associated with Triple-negative breast cancer by using case-control analysis in 191 patients with TNBC and 192 healthy female controls. -0.4 There is no association between microRNA gene polymorphisms and risk of triple negative breast cancer in a Chinese Han population. case-control analysis hsa-mir-105-1 miRNA Triple-negative breast cancer -0.33 GGTATCCCAG(G > A,C,T)AAAGAATCAC chrX: 152394798 0.7695,.,0.2305,. 0.77311894750254841,0.00036633537206931,0.22650675331294597,0.00000796381243628 Region score:0.44; TSS score:0.09; Unmatched score:0.22; Average GERP:0.25366138613861383 GeneName:GABRA3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000011677; TranscriptID:ENST00000370314; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR105-1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207957; TranscriptID:ENST00000385222; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR105-2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207818; TranscriptID:ENST00000385083; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR767; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000211583; TranscriptID:ENST00000390228; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001790 29878850 LINC01395 rs10750417 ? N/a 395 lung cancer cases and 556 controls in a chinese never-smoking female population EFO_0001071 N/A No significance for risk Lung cancer rs10750417-? of LINC01395 and its dysfunction is not significantly associated with Lung Cancer by using case-control analysis in 395 Lung Cancer cases and 556 controls in a Chinese Never-Smoking Female Population. -0.4 Association Between Four Polymorphisms in lncRNA and Risk of Lung Cancer in a Chinese Never-Smoking Female Population. case-control analysis LINC01395 lncRNA Lung cancer -0.33 TAAAAGAATG(A > G,T)AACTTTCTGA chr11: 129612280 0.264,0.736,. 0.29649273700305810,0.70322056574923547,0.00028669724770642 Region score:0.44; TSS score:0.41; Unmatched score:0.34; Average GERP:0.6993564356435643 GeneName:AP003500.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000281386; TranscriptID:ENST00000626400; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LINC01395; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000281097; TranscriptID:ENST00000631195; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000446525; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001791 27790247 NONHSAT044111.2 rs261332 ? N/A 9,618 european ancestry individuals; 19,796 european ancestry individuals EFO_0006988 N/A Associate Age-related diseases mortality and associated endophenotypes rs261332-? of NONHSAT044111.2 is significantly associated with the age-related diseases mortality and associated endophenotypes by using GWAS analysis in 9,618 european ancestry individuals; 19,796 european ancestry individuals(p-value = 4E-42 ;OR = ?). 0.4 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases. genome-wide association analysis NONHSAT044111.2 lncRNA Endophenotype 0.33 ACCCTTGCAT(A > G)TTAACACATA chr15: 58435126 0.1823,0.8177 0.20225694444444444,0.79774305555555555 Region score:0.28; TSS score:0.15; Unmatched score:0.34; Average GERP:-0.512501386138614 GeneName:ALDH1A2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000128918; TranscriptID:ENST00000558239; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LIPC-AS1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000259293; TranscriptID:ENST00000561083; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LIPC; CADD-Score:2; Consquence:intron; GeneID:ENSG00000166035; TranscriptID:ENST00000299022; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001792 23251661 NONHSAT212008.1 rs10232743 A N/A 815 hispanic children from 263 families EFO_0004887 N/A Associate Obesity-related traits rs10232743-A of NONHSAT212008.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 7E-6 ;OR = 0.04). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. genome-wide association analysis NONHSAT212008.1 lncRNA Maximal oxygen uptake measurement 0.33 GAAACAAGAT(C > T)CTTGGGCTGA chr7: 43871283 0.9922,0.007788 0.98353879969418960,0.01646120030581039 Region score:0.3; TSS score:0.6; Unmatched score:0.67; Average GERP:-0.743429702970297 GeneName:MRPS24; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000062582; TranscriptID:ENST00000317534; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:URGCP; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000106608; TranscriptID:ENST00000453200; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:URGCP-MRPS24; CADD-Score:2; Consquence:intron; GeneID:ENSG00000270617; TranscriptID:ENST00000603700; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001793 27490719 NONHSAT037609.2 rs917063 G N/A 884 norwegian ancestry children EFO_0005112 N/A Associate Gestational age at birth in labor-initiated deliveries (child effect) rs917063-G of NONHSAT037609.2 is significantly associated with the gestational age at birth in labor-initiated deliveries (child effect) by using GWAS analysis in 884 norwegian ancestry children(p-value = 8E-6 ;OR = ?). 0.4 Literature-Informed Analysis of a Genome-Wide Association Study of Gestational Age in Norwegian Women and Children Suggests Involvement of Inflammatory Pathways. genome-wide association analysis NONHSAT037609.2 lncRNA Gestational age 0.33 CACTGTGCCT(T > C)AGTTTCATCC chr14: 71181355 0.8003,0.1997 0.80526885830784913,0.19473114169215086 Region score:0.26; TSS score:0.23; Unmatched score:0.09; Average GERP:-0.46845148514851487 GeneName:AC004817.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000259907; TranscriptID:ENST00000561794; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001794 27863252 NONHSAT182281.1 rs34020101 T N/A 170,536 european ancestry individuals EFO_0007996 N/A Associate Eosinophil percentage of granulocytes rs34020101-T of NONHSAT182281.1 is significantly associated with the eosinophil percentage of granulocytes by using GWAS analysis in 170,536 european ancestry individuals(p-value = 6E-27 ;OR = 0.03927692). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT182281.1 lncRNA Eosinophil percentage of granulocytes 0.33 TAAATATTAG(TA > T)AAAAAAAAAA chr2: 102435014 0.5375,0.4625 0.49025229357798165,0.50974770642201834 N/A GeneName:AC007278.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000234389; TranscriptID:ENST00000450893; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC007278.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000236525; TranscriptID:ENST00000436582; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:IL18RAP; CADD-Score:2; Consquence:intron; GeneID:ENSG00000115607; TranscriptID:ENST00000264260; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR4772; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000264764; TranscriptID:ENST00000581495; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001795 23342264 miR-142 rs547987105 A Dominant 56 dlbcl cases EFO_0000403 N/A Increasing risk Diffuse large b-cell lymphoma rs547987105-A of miR-142 and its dysfunction is significantly associated with the increasing risk of diffuse large B-cell lymphoma by using analysis of sequence variation in 56 DLBCL cases. 0.4 MicroRNA-142 is mutated in about 20% of diffuse large B-cell lymphoma. analysis of sequence variation hsa-mir-142 miRNA Diffuse large b-cell lymphoma 0.33 CCCTCCAGTG(C > G,T)TGTTAGTAGT chr17: 58331278 N/A 0 N/A GeneName:AC004687.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000265206; TranscriptID:ENST00000579003; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR142; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000284353; TranscriptID:ENST00000384835; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR4736; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000264399; TranscriptID:ENST00000581591; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000096246; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TSPOAP1-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000265148; TranscriptID:ENST00000580515; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TSPOAP1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000005379; TranscriptID:ENST00000343736; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001796 26989097 NONHSAT196125.1 rs16823934 ? N/A up to 902 european ancestry cases//up to 78 cases EFO_0006788 N/A Associate Response to cognitive-behavioural therapy in anxiety disorder rs16823934-? of NONHSAT196125.1 is significantly associated with the response to cognitive-behavioural therapy in anxiety disorder by using GWAS analysis in up to 902 european ancestry cases//up to 78 cases(p-value = 6E-6 ;OR = ?). 0.4 Genome-wide association study of response to cognitive-behavioural therapy in children with anxiety disorders. genome-wide association analysis NONHSAT196125.1 lncRNA Anxiety disorder 0.33 TGTACTGCTG(G > A)GTGCCAAGCC chr3: 115616837 0.7318,0.2682 0.79504332313965341,0.20495667686034658 Region score:0.42; TSS score:0.4; Unmatched score:0.15; Average GERP:-0.2503215841584159 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001797 23251661 NONHSAT148458.1 rs6686929 G N/A 815 hispanic children from 263 families EFO_0004730 N/A Associate Obesity-related traits rs6686929-G of NONHSAT148458.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 3E-6 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. genome-wide association analysis NONHSAT148458.1 lncRNA Hormone measurement 0.33 CCAAAATGAT(C > G,T)TTGGCCAATG chr1: 17918213 0.4732,.,0.5268 0.47842603211009174,0.00342443934760448,0.51814952854230377 Region score:0.3; TSS score:0.1; Unmatched score:0.04; Average GERP:-0.4182287128712871 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001798 23563607 NONHSAT154610.1 rs2820464 G N/A 4,774 european ancestry high waist-to-hip ratio individuals//5,481 european ancestry low waist-to-hip ratio individuals; 3,351 european ancestry high waist-to-hip ratio individuals//3,352 european ancestry low waist-to-hip ratio individuals EFO_0004343 N/A Associate Waist-hip ratio rs2820464-G of NONHSAT154610.1 is significantly associated with the waist-hip ratio by using GWAS analysis in 4,774 european ancestry high waist-to-hip ratio individuals//5,481 european ancestry low waist-to-hip ratio individuals; 3,351 european ancestry high waist-to-hip ratio individuals//3,352 european ancestry low waist-to-hip ratio individuals(p-value = 7E-9 ;OR = 1.16). 0.4 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. genome-wide association analysis NONHSAT154610.1 lncRNA Waist-hip ratio 0.33 GATTGCATTC(G > A,C)TAGATATAAT chr1: 219519878 0.7384,0.2616,. 0.72419724770642201,0.27579478848114169,0.00000796381243628 Region score:0.4; TSS score:0.34; Unmatched score:0.2; Average GERP:2.2097108910891095 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001799 26634245 NONHSAT173314.1 rs58423913 C N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio rs58423913-C of NONHSAT173314.1 is significantly associated with the post bronchodilator fev1/fvc ratio by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 4E-6 ;OR = 0.038). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT173314.1 lncRNA Pulmonary function measurement 0.33 ATTTATGTTC(T > C)ATAAAATTAG chr16: 78896840 0.9151,0.08486 0.88542463047910295,0.11457536952089704 Region score:0.25; TSS score:0.16; Unmatched score:0.05; Average GERP:-0.936837623762376 GeneName:AC027279.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000260816; TranscriptID:ENST00000568885; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC027279.4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000280190; TranscriptID:ENST00000624371; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000542954; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:WWOX; CADD-Score:2; Consquence:intron; GeneID:ENSG00000186153; TranscriptID:ENST00000566780; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001800 21685187 NONHSAT182644.1 rs4662984 A N/A 3,397 european ancestry cases EFO_0005670 N/A Associate Age at smoking initiation in chronic obstructive pulmonary disease rs4662984-A of NONHSAT182644.1 is significantly associated with the age at smoking initiation in chronic obstructive pulmonary disease by using GWAS analysis in 3,397 european ancestry cases(p-value = 2E-7 ;OR = 0.057). 0.4 Genome-wide association study of smoking behaviours in patients with COPD. genome-wide association analysis NONHSAT182644.1 lncRNA Smoking initiation 0.33 CTTCTCCCGT(G > A)TACCCCAGAT chr2: 129711668 0.363,0.637 0.30699700560652395,0.69300299439347604 Region score:0.32; TSS score:0.28; Unmatched score:0.16; Average GERP:-0.9858886138613863 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000620039; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001801 25939597 NONHSAT053287.2 rs8064454 C N/A 4,600 european ancestry cases//2,941 european ancestry controls; 7,779 european ancestry cases//7,623 european ancestry controls EFO_0001663 N/A Associate Prostate cancer rs8064454-C of NONHSAT053287.2 is significantly associated with the prostate cancer by using GWAS analysis in 4,600 european ancestry cases//2,941 european ancestry controls; 7,779 european ancestry cases//7,623 european ancestry controls(p-value = 8E-29 ;OR = 1.24). 0.4 Two susceptibility loci identified for prostate cancer aggressiveness. genome-wide association analysis NONHSAT053287.2 lncRNA Prostate cancer 0.33 ATATTTCCAC(C > A,G)GATATTTTTA chr17: 37741595 0.4215,0.5785,. 0.50539150101936799,0.49455275229357798,0.00005574668705402 Region score:0.32; TSS score:0.46; Unmatched score:0.47; Average GERP:0.6504950495049503 GeneName:HNF1B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000275410; TranscriptID:ENST00000617811; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000093699; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001802 27918534 NONHSAT006322.2 rs6587515 ? N/A 3,684 european ancestry women//3,640 european ancestry men//1,284 african american women//877 african american men//746 hispanic ancestry women//699 hispanic ancestry men//390 asian ancestry women//378 asian ancestry men// 294 old order amish (founder/genetic isolate) women//248 old order amish (founder/genetic isolate) men. EFO_0000589 N/A Associate Pericardial adipose tissue adjusted for height and weight rs6587515-? of NONHSAT006322.2 is significantly associated with the pericardial adipose tissue adjusted for height and weight by using GWAS analysis in 3,684 european ancestry women//3,640 european ancestry men//1,284 african american women//877 african american men//746 hispanic ancestry women//699 hispanic ancestry men//390 asian ancestry women//378 asian ancestry men// 294 old order amish (founder/genetic isolate) women//248 old order amish (founder/genetic isolate) men.(p-value = 4E-6 ;OR = ?). 0.4 Multiethnic genome-wide meta-analysis of ectopic fat depots identifies loci associated with adipocyte development and differentiation. genome-wide association analysis NONHSAT006322.2 lncRNA Metabolic disease 0.451 GTTGGGGAGT(G > A)AGCCAACAGT chr1: 150636412 0.9237,0.07628 0.92142902650356778,0.07857097349643221 Region score:0.34; TSS score:0.21; Unmatched score:0.11; Average GERP:0.157814 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001802 27918534 NONHSAT006322.2 rs6587515 A N/A 3,684 european ancestry women//3,640 european ancestry men//1,284 african american women//877 african american men//746 hispanic ancestry women//699 hispanic ancestry men//390 asian ancestry women//378 asian ancestry men// 294 old order amish (founder/genetic isolate) women//248 old order amish (founder/genetic isolate) men. EFO_0000589 N/A Associate Pericardial adipose tissue adjusted for height and weight rs6587515-A of NONHSAT006322.2 is significantly associated with the pericardial adipose tissue adjusted for height and weight by using GWAS analysis in 3,684 european ancestry women//3,640 european ancestry men//1,284 african american women//877 african american men//746 hispanic ancestry women//699 hispanic ancestry men//390 asian ancestry women//378 asian ancestry men// 294 old order amish (founder/genetic isolate) women//248 old order amish (founder/genetic isolate) men.(p-value = 3E-9 ;OR = 5.94). 0.4 Multiethnic genome-wide meta-analysis of ectopic fat depots identifies loci associated with adipocyte development and differentiation. genome-wide association analysis NONHSAT006322.2 lncRNA Metabolic disease 0.451 GTTGGGGAGT(G > A)AGCCAACAGT chr1: 150636412 0.9237,0.07628 0.92142902650356778,0.07857097349643221 Region score:0.34; TSS score:0.21; Unmatched score:0.11; Average GERP:0.157814 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001803 23251661 NONHSAT206694.1 rs17138114 G N/A 815 hispanic children from 263 families EFO_0004344 N/A Associate Obesity-related traits rs17138114-G of NONHSAT206694.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 1E-6 ;OR = 0.04). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. genome-wide association analysis NONHSAT206694.1 lncRNA Birth weight 0.33 CCATATAACT(A > G)AAACTGGACT chr6: 4379277 0.8954,0.1046 0.89263188073394495,0.10736811926605504 Region score:0.36; TSS score:0.36; Unmatched score:0.15; Average GERP:-0.5452435643564356 GeneName:AL162718.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000285424; TranscriptID:ENST00000642310; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001804 26634245 NONHSAT214028.1 rs73157032 A N/A 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases EFO_0003892 N/A Associate Post bronchodilator fev1 in copd rs73157032-A of NONHSAT214028.1 is significantly associated with the post bronchodilator fev1 in copd by using GWAS analysis in 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases(p-value = 4E-6 ;OR = 1.182). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT214028.1 lncRNA Pulmonary function measurement 0.33 TCTTCCAATG(C > A)ACCAAATCTG chr7: 136743934 0.9814,0.01857 0.97415742864424057,0.02584257135575942 Region score:0.46; TSS score:0.22; Unmatched score:0.16; Average GERP:0.8148564356435648 GeneName:AC009264.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000234352; TranscriptID:ENST00000597642; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001805 25140149 NONHSAT016673.2 rs12261764 ? N/A 382 european ancestry mild cognitive impairment cases//114 european ancestry alzheimer's disease cases//194 european ancestry controls HP_0012444 N/A Associate Left inferior lateral ventricle volume (cerebrospinal fluid biomarker status interaction) rs12261764-? of NONHSAT016673.2 is significantly associated with the left inferior lateral ventricle volume (cerebrospinal fluid biomarker status interaction) by using GWAS analysis in 382 european ancestry mild cognitive impairment cases//114 european ancestry alzheimer's disease cases//194 european ancestry controls(p-value = 1E-7 ;OR = 5.55). 0.4 Genetic variation modifies risk for neurodegeneration based on biomarker status. genome-wide association analysis NONHSAT016673.2 lncRNA Brain atrophy 0.33 TCACGTTTCT(G > T)CACATCTTGT chr10: 120762869 0.8702,0.1298 0.84392520387359836,0.15607479612640163 Region score:0.3; TSS score:0.22; Unmatched score:0.31; Average GERP:-0.4479099009900991 GeneName:WDR11-AS1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000227165; TranscriptID:ENST00000628194; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001806 27863252 NONHSAT197521.1 rs6782812 A N/A 171,996 european ancestry individuals EFO_0007992 N/A Associate Basophil percentage of white cells rs6782812-A of NONHSAT197521.1 is significantly associated with the basophil percentage of white cells by using GWAS analysis in 171,996 european ancestry individuals(p-value = 7E-136 ;OR = 0.1395398). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT197521.1 lncRNA Basophil percentage of leukocytes 0.33 GGCACTGCCC(G > A)GAAGCTTCCC chr3: 128599154 0.1737,0.8263 0.12586805555555555,0.87413194444444444 Region score:0.31; TSS score:0.21; Unmatched score:0.13; Average GERP:-0.4789628712871288 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001807 26030696 NONHSAT168862.1 rs3811345 A N/A 5,385 european ancestry chronic obstructive pulmonary disease cases//901 african american chronic obstructive pulmonary disease cases//3,613 european ancestry controls//2,132 african american controls EFO_0000341 N/A Associate Emphysema imaging phenotypes rs3811345-A of NONHSAT168862.1 is significantly associated with the emphysema imaging phenotypes by using GWAS analysis in 5,385 european ancestry chronic obstructive pulmonary disease cases//901 african american chronic obstructive pulmonary disease cases//3,613 european ancestry controls//2,132 african american controls(p-value = 2E-6 ;OR = 3.4). 0.4 A Genome-Wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes. genome-wide association analysis NONHSAT168862.1 lncRNA Chronic obstructive pulmonary disease 0.33 CAGAGGCCTC(A > G)GAATGGCCAA chr14: 95922994 0.8061,0.1939 0.86189952854230377,0.13810047145769622 Region score:0.28; TSS score:0.44; Unmatched score:0.47; Average GERP:-0.8266385148514848 GeneName:TUNAR; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000250366; TranscriptID:ENST00000503525; AnnoType:3PRIME_UTR; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001808 25574825 NONHSAT191475.1 rs2836751 ? N/A 2,079 european ancestry atopic dermatitis cases//4,212 european ancestry psoriasis cases//11,899 european ancestry controls EFO_0000676 N/A Associate Inflammatory skin disease rs2836751-? of NONHSAT191475.1 is significantly associated with the inflammatory skin disease by using GWAS analysis in 2,079 european ancestry atopic dermatitis cases//4,212 european ancestry psoriasis cases//11,899 european ancestry controls(p-value = 6E-6 ;OR = ?). 0.4 Genome-wide comparative analysis of atopic dermatitis and psoriasis gives insight into opposing genetic mechanisms. genome-wide association analysis NONHSAT191475.1 lncRNA Psoriasis 0.33 AGAGCCTTTG(C > T)CAAAGTAAAT chr21: 38919035 0.6006,0.3994 0.48960722477064220,0.51039277522935779 Region score:0.42; TSS score:0.56; Unmatched score:0.57; Average GERP:0.3421455445544555 GeneName:AP001043.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000205622; TranscriptID:ENST00000380931; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000663010; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001809 24529757 NONHSAT198840.1 rs13133845 ? N/A 250 han chinese ancestry cases//250 han chinese ancestry controls EFO_0001357 N/A Associate Amyotrophic lateral sclerosis (sporadic) rs13133845-? of NONHSAT198840.1 is significantly associated with the amyotrophic lateral sclerosis (sporadic) by using GWAS analysis in 250 han chinese ancestry cases//250 han chinese ancestry controls(p-value = 6E-6 ;OR = ?). 0.4 Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations. genome-wide association analysis NONHSAT198840.1 lncRNA Sporadic amyotrophic lateral sclerosis 0.33 ATTATATTTC(A > G)GAAACCTGTG chr4: 94673465 0.9245,0.07548 0.90702248980632008,0.09297751019367991 Region score:0.34; TSS score:0.31; Unmatched score:0.36; Average GERP:-0.21086534653465336 GeneName:AC108067.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000249951; TranscriptID:ENST00000514304; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001810 23720494 NONHSAT202792.1 rs921943 T N/A 5477 european ancestry individuals EFO_0005266 N/A Associate Blood trace element (se levels) rs921943-T of NONHSAT202792.1 is significantly associated with the blood trace element (se levels) by using GWAS analysis in 5477 european ancestry individuals(p-value = 9E-28 ;OR = 0.246). 0.4 Genome-wide association study identifies loci affecting blood copper, selenium and zinc. genome-wide association analysis NONHSAT202792.1 lncRNA Serum selenium measurement 0.33 CTAGAATCAA(C > T)ATTGTCTTAT chr5: 79020653 0.6941,0.3059 0.67079988532110091,0.32920011467889908 Region score:0.3; TSS score:0.36; Unmatched score:0.44; Average GERP:0.6816069306930695 GeneName:DMGDH; CADD-Score:2; Consquence:intron; GeneID:ENSG00000132837; TranscriptID:ENST00000255189; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000315774; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001811 27863252 NONHSAT031439.2 rs9165 C N/A 164,339 european ancestry individuals EFO_0007985 N/A Associate Plateletcrit rs9165-C of NONHSAT031439.2 is significantly associated with the plateletcrit by using GWAS analysis in 164,339 european ancestry individuals(p-value = 2E-26 ;OR = 0.04331828). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT031439.2 lncRNA Plateletcrit 0.33 GCACACTCCC(T > C,G)GGGGGGATAC chr12: 121781881 0.4299,0.5477,. 0.40746846330275229,0.59252357288481141,0.00000796381243628 Region score:0.42; TSS score:0.4; Unmatched score:0.78; Average GERP:-0.9205886597938144 GeneName:RHOF; CADD-Score:2; Consquence:intron; GeneID:ENSG00000139725; TranscriptID:ENST00000267205; AnnoType:INTRONIC; mirSVR-Score:-0.0045; mirSVR-E:-21.53 | GeneName:TMEM120B; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000188735; TranscriptID:ENST00000449592; AnnoType:3PRIME_UTR; mirSVR-Score:-0.0045; mirSVR-E:-21.53 | NCRV0000001812 24554482 NONHSAT187341.1 rs2708973 ? N/A 19 european ancestry cases//30 african american cases//9 hispanic cases//85 european ancestry controls//49 african american controls//30 hispanic controls EFO_0000180 N/A Associate Response to anti-retroviral therapy (ddi/d4t) in hiv-1 infection (grade 2 peripheral neuropathy) rs2708973-? of NONHSAT187341.1 is significantly associated with the response to anti-retroviral therapy (ddi/d4t) in hiv-1 infection (grade 2 peripheral neuropathy) by using GWAS analysis in 19 european ancestry cases//30 african american cases//9 hispanic cases//85 european ancestry controls//49 african american controls//30 hispanic controls(p-value = 3E-6 ;OR = 31.7). 0.4 Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384. genome-wide association analysis NONHSAT187341.1 lncRNA Hiv-1 infection 0.33 TGGGGGCATC(A > G)TATCATCAGA chr2: 112906296 0.04014,0.9599 0.04075082823649337,0.95924917176350662 Region score:0.38; TSS score:0.37; Unmatched score:0.16; Average GERP:-0.6348861386138616 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000617078; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001813 23583979 NONHSAT204730.1 rs7722600 A N/A 85,787 european ancestry individuals//6,568 indian asian ancestry indiviudals; 88,823 european ancestry individuals MONDO_0000992 N/A Associate Heart rate rs7722600-A of NONHSAT204730.1 is significantly associated with the heart rate by using GWAS analysis in 85,787 european ancestry individuals//6,568 indian asian ancestry indiviudals; 88,823 european ancestry individuals(p-value = 3E-7 ;OR = ?). 0.4 Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders. genome-wide association analysis NONHSAT204730.1 lncRNA Heart conduction disease 0.33 N/A N/A N/A N/A N/A N/A NCRV0000001814 23620142 NONHSAT215502.1 rs1390943 G N/A 9,305 european ancestry individuals; EFO_0005243 N/A Associate Circulating myeloperoxidase levels (serum) rs1390943-G of NONHSAT215502.1 is significantly associated with the circulating myeloperoxidase levels (serum) by using GWAS analysis in 9,305 european ancestry individuals; (p-value = 9E-7 ;OR = 0.05). 0.4 Genome-wide and gene-centric analyses of circulating myeloperoxidase levels in the charge and care consortia. genome-wide association analysis NONHSAT215502.1 lncRNA Myeloperoxidase measurement 0.33 CCCAGGTGTT(T > G)ACCCTCTACC chr8: 20224379 0.5879,0.4121 0.56955593781855249,0.43044406218144750 Region score:0.21; TSS score:0.24; Unmatched score:0.18; Average GERP:-0.3911366336633664 GeneName:ATP6V1B2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000147416; TranscriptID:ENST00000276390; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000221893; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000849266; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001815 27262462 NONHSAT129023.2 rs138042437 G N/A 2,511 european ancestry cases//1,382 european ancestry controls EFO_0001663 N/A Associate Prostate cancer rs138042437-G of NONHSAT129023.2 is significantly associated with the prostate cancer by using GWAS analysis in 2,511 european ancestry cases//1,382 european ancestry controls(p-value = 2E-8 ;OR = 13.25). 0.4 Genome-wide association of familial prostate cancer cases identifies evidence for a rare segregating haplotype at 8q24.21. genome-wide association analysis NONHSAT129023.2 lncRNA Prostate cancer 0.33 TGCAATTAGT(A > G)AAAGAATTTT chr8: 127196124 0.9978,0.002196 0.99678261977573904,0.00321738022426095 Region score:0.29; TSS score:0.23; Unmatched score:0.22; Average GERP:-1.1715544554455448 GeneName:CASC19; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000254166; TranscriptID:ENST00000641365; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PCAT1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000253438; TranscriptID:ENST00000646670; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001816 21926974 NONHSAT179116.1 rs12966547 G N/A 9,394 european ancestry cases//12,462 european ancestry controls; 8,442 european ancestry cases//21,397 european ancestry controls EFO_0000692 N/A Associate Schizophrenia rs12966547-G of NONHSAT179116.1 is significantly associated with the schizophrenia by using GWAS analysis in 9,394 european ancestry cases//12,462 european ancestry controls; 8,442 european ancestry cases//21,397 european ancestry controls(p-value = 3E-8 ;OR = 1.4). 0.4 Genome-wide association study identifies five new schizophrenia loci. genome-wide association analysis NONHSAT179116.1 lncRNA Schizophrenia 0.33 ATAGGACAAG(G > A)ATAGTAAGTC chr18: 55084786 0.6066,0.3934 0.59175904689092762,0.40824095310907237 Region score:0.34; TSS score:0.46; Unmatched score:0.28; Average GERP:2.385520792079209 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000103500; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001817 27741504 miR-27a rs895819 C N/A 218 endometriosis patients and 202 healthy women age-matched controls EFO_0001065 N/A no significance for risk endometriosis rs895819-C of hsa-mir-27a and its dysfunction is not significantly associated with Endometriosis by using case-control analysis in 218 endometriosis patients and 202 healthy women age-matched controls -0.4 Up-regulation of ribosome biogenesis by MIR196A2 genetic variation promotes endometriosis development and progression. case-control analysis hsa-mir-27a miRNA Endometriosis -0.33 CACGACTTGG(T > C)GTGGACCCTG chr19: 13836478 0.6362,0.3638 0.63091711264016309,0.36908288735983690 Region score:0.57; TSS score:0.41; Unmatched score:0.75; Average GERP:2.158386138613861 GeneName:AC020916.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000267519; TranscriptID:ENST00000587762; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR23A; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207980; TranscriptID:ENST00000385245; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR24-2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284387; TranscriptID:ENST00000386972; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR27A; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207808; TranscriptID:ENST00000385073; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000107447; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ZSWIM4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000132003; TranscriptID:ENST00000254323; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001818 28928442 NONHSAT210415.1 rs12190797 ? N/A 17,457 european ancestry cases//68,446 european ancestry controls EFO_0008403 N/A Associate Mononucleosis rs12190797-? of NONHSAT210415.1 is significantly associated with the mononucleosis by using GWAS analysis in 17,457 european ancestry cases//68,446 european ancestry controls(p-value = 7E-6 ;OR = 0.1289). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. genome-wide association analysis NONHSAT210415.1 lncRNA Susceptibility to mononucleosis measurement 0.33 GCAGTGAGCC(G > A)AGATTGCACC chr6: 33514890 0.9667,0.03335 0.94415774719673802,0.05584225280326197 Region score:0.37; TSS score:0.26; Unmatched score:0.09; Average GERP:-0.05835643564356437 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001819 20700443 NONHSAT152363.1 rs4072037 C N/A 15,366 european ancestry individuals; 8,463 european ancestry individuals EFO_0004845 N/A Associate Magnesium levels rs4072037-C of NONHSAT152363.1 is significantly associated with the magnesium levels by using GWAS analysis in 15,366 european ancestry individuals; 8,463 european ancestry individuals(p-value = 2E-36 ;OR = 0.01). 0.4 Genome-wide association studies of serum magnesium, potassium, and sodium concentrations identify six Loci influencing serum magnesium levels.LID - 10.1371/journal.pgen.1001045 [doi]LID - e1001045 [pii]AB - Magnesium, potassium, and sodium, cat genome-wide association analysis NONHSAT152363.1 lncRNA Magnesium measurement 0.451 GACCAGAACC(C > A,T)GTAACAACTG chr1: 155192276 0.3712,.,0.6288 0.40077089704383282,.,0.59922910295616717 Region score:0.23; TSS score:0.41; Unmatched score:0.88; Average GERP:-1.2133722772277231 GeneName:AC234582.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000231064; TranscriptID:ENST00000447623; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR92B; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284586; TranscriptID:ENST00000607575; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MUC1; CADD-Score:5; Consquence:synonymous; GeneID:ENSG00000185499; TranscriptID:ENST00000612778; AnnoType:SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000014041; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:THBS3; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000169231; TranscriptID:ENST00000368378; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001819 26058915 NONHSAT152363.1 rs4072037 C N/A 2,737 african american individuals; 942 african american individuals EFO_0004845 N/A Associate Magnesium levels rs4072037-C of NONHSAT152363.1 is significantly associated with the magnesium levels by using GWAS analysis in 2,737 african american individuals; 942 african american individuals(p-value = 9E-12 ;OR = 0.012). 0.4 Genetic loci for serum magnesium among African-Americans and gene-environment interaction at MUC1 and TRPM6 in European-Americans: the Atherosclerosis Risk in Communities (ARIC) study. genome-wide association analysis NONHSAT152363.1 lncRNA Magnesium measurement 0.451 GACCAGAACC(C > A,T)GTAACAACTG chr1: 155192276 0.3712,.,0.6288 0.40077089704383282,.,0.59922910295616717 Region score:0.23; TSS score:0.41; Unmatched score:0.88; Average GERP:-1.2133722772277231 GeneName:AC234582.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000231064; TranscriptID:ENST00000447623; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR92B; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284586; TranscriptID:ENST00000607575; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MUC1; CADD-Score:5; Consquence:synonymous; GeneID:ENSG00000185499; TranscriptID:ENST00000612778; AnnoType:SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000014041; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:THBS3; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000169231; TranscriptID:ENST00000368378; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001820 27611488 NONHSAT187774.1 rs6761859 ? N/A 819 african american non-allergic asthma cases//2,218 african american allergic asthma cases 4,360 african american controls//808 european american non-allergic asthma cases//1,464 european american allergic asthma cases//11,975 european american controls EFO_0000270 N/A Associate Asthma rs6761859-? of NONHSAT187774.1 is significantly associated with the asthma by using GWAS analysis in 819 african american non-allergic asthma cases//2,218 african american allergic asthma cases 4,360 african american controls//808 european american non-allergic asthma cases//1,464 european american allergic asthma cases//11,975 european american controls(p-value = 4E-6 ;OR = 0.634). 0.4 Identification of Four Novel Loci in Asthma in European American and African American Populations. genome-wide association analysis NONHSAT187774.1 lncRNA Asthma 0.33 AGCAGACCCT(G > A)ACTCTGCTCA chr2: 173386140 0.9706,0.02935 0.97954096585117227,0.02045903414882772 Region score:0.25; TSS score:0.26; Unmatched score:0.21; Average GERP:-1.289047524752475 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001821 22778062 SNORD115-14 rs72546351 A N/a N/a function N/A Significant changes in the structure Function rs72546351-A of SNORD115-14 and its dysfunction having significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD115-14 snoRNA Function 0.049 CTTATATTGT(C > A,T)TGAAGAGAGG chr15: 25194948 N/A 0.99993628950050968,0.00004778287461773,0.00001592762487257 Region score:0.5; TSS score:0.11; Unmatched score:0.6; Average GERP:0.21923722772277224 GeneName:SNHG14; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000224078; TranscriptID:ENST00000456576; AnnoType:INTRONIC; mirSVR-Score:-0.6107; mirSVR-E:-18.01 | GeneName:SNORD115-12; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000199453; TranscriptID:ENST00000362583; AnnoType:DOWNSTREAM; mirSVR-Score:-0.6107; mirSVR-E:-18.01 | GeneName:SNORD115-13; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000273835; TranscriptID:ENST00000363358; AnnoType:DOWNSTREAM; mirSVR-Score:-0.6107; mirSVR-E:-18.01 | GeneName:SNORD115-14; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000199960; TranscriptID:ENST00000363090; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.6107; mirSVR-E:-18.01 | GeneName:SNORD115-15; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000201679; TranscriptID:ENST00000364809; AnnoType:UPSTREAM; mirSVR-Score:-0.6107; mirSVR-E:-18.01 | GeneName:SNORD115-16; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000200757; TranscriptID:ENST00000363887; AnnoType:UPSTREAM; mirSVR-Score:-0.6107; mirSVR-E:-18.01 | NCRV0000001822 27863252 NONHSAT008671.2 rs1434282 T N/A 170,763 european ancestry individuals EFO_0007986 N/A Associate High light scatter reticulocyte percentage of red cells rs1434282-T of NONHSAT008671.2 is significantly associated with the high light scatter reticulocyte percentage of red cells by using GWAS analysis in 170,763 european ancestry individuals(p-value = 4E-19 ;OR = 0.03616365). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT008671.2 lncRNA Reticulocyte count 0.33 TCCCAAGAGA(C > T)GTTATCAGTC chr1: 199041592 0.219,0.781 0.23566513761467889,0.76433486238532110 Region score:0.7; TSS score:0.66; Unmatched score:0.73; Average GERP:2.7453069306930686 GeneName:LINC01221; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000235492; TranscriptID:ENST00000432488; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001823 24916311 miR-146a rs2910164 G N/A 381 patients with esophageal squamous cell carcinoma (ESCC) and 426 gender, age-matched controls EFO_0005922 N/A no significance for risk esophageal squamous cell carcinoma rs2910164-G of hsa-mir-146a and its dysfunction is not significantly associated with Esophageal squamous cell carcinoma by using case-control analysis in 381 patients with esophageal squamous cell carcinoma (ESCC) and 426 gender, age-matched controls -0.4 MicroRNAs related polymorphisms and genetic susceptibility to esophageal squamous cell carcinoma. case-control analysis hsa-mir-146a miRNA Esophageal squamous cell carcinoma -0.181 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 0 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001823 20680470 has-miR-146a rs2910164 G N/A 444 sporadic ESCC patients and 468 matched cancer-free controls EFO_0005922 N/A increasing risk esophageal squamous cell carcinoma rs2910164-G of hsa-mir-146a and its dysfunction is significantly associated with the increasing risk of Esophageal squamous cell carcinoma by using case-control analysis in 444 sporadic ESCC patients and 468 matched cancer-free controls 0.4 A functional varient in microRNA-146a is associated with risk of esophageal squamous cell carcinoma in Chinese Han. case-control analysis hsa-mir-146a miRNA Esophageal squamous cell carcinoma -0.181 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 0 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001823 26261633 miR146a rs2910164 C N/A 248 Kazakh patients with ESCC and 300 frequency matched control subjects EFO_0005922 N/A no significance for risk esophageal squamous cell carcinoma rs2910164-C of hsa-mir-146a and its dysfunction is not significantly associated with Esophageal squamous cell carcinoma by using case-control analysis in 248 Kazakh patients with ESCC and 300 frequency matched control subjects -0.4 Genetic variation in miR-100 rs1834306 is associated with decreased risk for esophageal squamous cell carcinoma in Kazakh patients in northwest China. case-control analysis hsa-mir-146a miRNA Esophageal squamous cell carcinoma -0.181 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 0 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001824 23934736 NONHSAT131128.2 rs3747547 C N/A 1,260 african american individuals EFO_0005275 N/A Associate Metabolite levels (dihydroxy docosatrienoic acid) rs3747547-C of NONHSAT131128.2 is significantly associated with the metabolite levels (dihydroxy docosatrienoic acid) by using GWAS analysis in 1,260 african american individuals(p-value = 5E-6 ;OR = 0.09). 0.4 Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study. genome-wide association analysis NONHSAT131128.2 lncRNA Dihydroxy docosatrienoic acid measurement 0.33 TGGTCAATGA(T > C)ATCACCACTT chr9: 37916411 0.8411,0.1589 0.84859199796126401,0.15140800203873598 Region score:0.41; TSS score:0.2; Unmatched score:0.16; Average GERP:-0.5091871287128712 GeneName:AL138752.2; CADD-Score:2; Consquence:intron,NMD; GeneID:ENSG00000255872; TranscriptID:ENST00000540557; AnnoType:INTRONIC; mirSVR-Score:-0.0364; mirSVR-E:-18.13 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000880060; AnnoType:REGULATORY; mirSVR-Score:-0.0364; mirSVR-E:-18.13 | GeneName:SHB; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000107338; TranscriptID:ENST00000377707; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0364; mirSVR-E:-18.13 | NCRV0000001825 29049738 miR-323b-5p rs1063192 G N/A IOP (n = 37,930 individuals), VCDR (n = 23,899 individuals), cup area (n = 22,489 individuals), and disc area (n = 22,504 individuals). EFO_0004190 N/A increasing risk open-angle glaucoma rs1063192-G of hsa-mir-323b and its dysfunction is significantly associated with the increasing risk of Open-angle glaucoma by using case-control analysis in IOP (n = 37,930 individuals), VCDR (n = 23,899 individuals), cup area (n = 22,489 individuals), and disc area (n = 22,504 individuals). 0.9 A Genome-Wide Scan for MicroRNA-Related Genetic Variants Associated With Primary Open-Angle Glaucoma. case-control analysis hsa-mir-323b miRNA Open-angle glaucoma 0.593 CTTAATATCA(G > A,T)GTTGTCATTA chr9: 22003368 0.2053,0.7947,. 0.27850248470948012,0.71796158256880733,0.00353593272171253 Region score:0.35; TSS score:0.62; Unmatched score:0.65; Average GERP:0.1611920792079208 GeneName:AL359922.1; CADD-Score:2; Consquence:intron,NMD; GeneID:ENSG00000264545; TranscriptID:ENST00000404796; AnnoType:INTRONIC; mirSVR-Score:-0.4691; mirSVR-E:-20.38 | GeneName:CDKN2B-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000240498; TranscriptID:ENST00000428597; AnnoType:INTRONIC; mirSVR-Score:-0.4691; mirSVR-E:-20.38 | GeneName:CDKN2B; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000147883; TranscriptID:ENST00000276925; AnnoType:3PRIME_UTR; mirSVR-Score:-0.4691; mirSVR-E:-20.38 | NCRV0000001826 28053049 NONHSAT196718.1 rs710446 ? N/A 16,169 european ancestry individuals; 2,045 european ancestry individuals EFO_0004694 N/A Associate Factor xi rs710446-? of NONHSAT196718.1 is significantly associated with the factor xi by using GWAS analysis in 16,169 european ancestry individuals; 2,045 european ancestry individuals(p-value = 2E-302 ;OR = 0.0888). 0.4 Genome-wide association study with additional genetic and post-transcriptional analyses reveals novel regulators of plasma factor XI levels. genome-wide association analysis NONHSAT196718.1 lncRNA Factor xi measurement 0.33 CCAGCTCCCA(T > C)ACAGAGTGAT chr3: 186742138 0.5847,0.4153 0.56200624362895005,0.43799375637104994 Region score:0.28; TSS score:0.33; Unmatched score:0.46; Average GERP:1.466730693069307 GeneName:AC068631.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000197099; TranscriptID:ENST00000627551; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:KNG1; CADD-Score:7; Consquence:missense; GeneID:ENSG00000113889; TranscriptID:ENST00000644859; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001827 23563607 NONHSAT206751.1 rs1885486 A N/A 8,097 european ancestry tall individuals//8,099 european ancestry short individuals; 4,872 european ancestry tall individuals//4,831 european ancestry short individuals EFO_0004339 N/A Associate Height rs1885486-A of NONHSAT206751.1 is significantly associated with the height by using GWAS analysis in 8,097 european ancestry tall individuals//8,099 european ancestry short individuals; 4,872 european ancestry tall individuals//4,831 european ancestry short individuals(p-value = 5E-17 ;OR = 1.18). 0.4 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. genome-wide association analysis NONHSAT206751.1 lncRNA Body height 0.33 ATCTTAAAAA(G > A)CACTTTTTCC chr6: 7695740 0.6404,0.3596 0.61780071355759429,0.38219928644240570 Region score:0.41; TSS score:0.27; Unmatched score:0.11; Average GERP:-0.5041079207920792 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001828 26152337 hsa-mir-612 rs12803915 A N/A 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A no significance for risk hepatocellular carcinoma rs12803915-A of hsa-mir-612 and its dysfunction is not significantly associated with Hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors -0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. case-control analysis hsa-mir-612 miRNA Hepatocellular carcinoma -0.33 AGCACTAGCA(G > A)GAGGGGCTCC chr11: 65444508 0.8618,0.1382 0.82363340978593272,0.17636659021406727 Region score:0.28; TSS score:0.44; Unmatched score:0.76; Average GERP:-0.47209009900990107 GeneName:MIR612; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000283791; TranscriptID:ENST00000384994; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NEAT1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000245532; TranscriptID:ENST00000501122; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01684; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000275948; TranscriptID:ENST00000616984; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001829 27328823 mir-3183 rs2663345 G N/A 17,008 AD cases and 37,154 controls EFO_0000249 N/A decreasing risk Alzheimer's disease rs2663345-G of hsa-mir-3183 and its dysfunction is significantly associated with the decreasing risk of Alzheimers disease by using case-control analysis in 17,008 AD cases and 37,154 controls 0.4 Genome-wide identification of microRNA-related variants associated with risk of Alzheimer's disease. case-control analysis hsa-mir-3183 miRNA Alzheimers disease 0.33 CGTCAACGTG(A > G)CTGCTCCGAG chr17: 1022524 0.4964,0.5036 0.54326739296636085,0.45673260703363914 Region score:0.31; TSS score:0.36; Unmatched score:0.45; Average GERP:0.005472277227722633 GeneName:ABR; CADD-Score:2; Consquence:intron; GeneID:ENSG00000159842; TranscriptID:ENST00000302538; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3183; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000264429; TranscriptID:ENST00000578566; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001830 22778062 SNORD115-8 rs72546345 G N/A N/A function N/A not significant changes in the structure function rs72546345-G of SNORD115-8 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in nan -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD115-8 snoRNA function -0.049 TGAGAACCTT(A > G)CATTGTTCTG chr15: 25184326 0.9934,0.006589 0.98699509429153924,0.01300490570846075 Region score:0.42; TSS score:0.12; Unmatched score:0.48; Average GERP:0.18049108910891098 GeneName:SNHG14; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000224078; TranscriptID:ENST00000414175; AnnoType:UPSTREAM; mirSVR-Score:-0.3515; mirSVR-E:-21.53 | GeneName:SNORD115-10; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000201943; TranscriptID:ENST00000365073; AnnoType:UPSTREAM; mirSVR-Score:-0.3515; mirSVR-E:-21.53 | GeneName:SNORD115-6; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000200812; TranscriptID:ENST00000363942; AnnoType:DOWNSTREAM; mirSVR-Score:-0.3515; mirSVR-E:-21.53 | GeneName:SNORD115-7; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000278089; TranscriptID:ENST00000365306; AnnoType:DOWNSTREAM; mirSVR-Score:-0.3515; mirSVR-E:-21.53 | GeneName:SNORD115-8; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000200726; TranscriptID:ENST00000363856; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.3515; mirSVR-E:-21.53 | GeneName:SNORD115-9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000199782; TranscriptID:ENST00000362912; AnnoType:UPSTREAM; mirSVR-Score:-0.3515; mirSVR-E:-21.53 | NCRV0000001831 23377640 NONHSAT196791.1 rs604222 A N/A up to 2,256 european ancestry cases EFO_0003761 N/A Associate Major depressive disorder rs604222-A of NONHSAT196791.1 is significantly associated with the major depressive disorder by using GWAS analysis in up to 2,256 european ancestry cases(p-value = 7E-6 ;OR = 0.2173). 0.4 Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies. genome-wide association analysis NONHSAT196791.1 lncRNA Unipolar depression 0.33 TTCCATCTGC(G > A,T)TTTCTCTTGC chr3: 193865921 0.8049,0.1951,. 0.81946037206931702,0.18053166411824668,0.00000796381243628 Region score:0.33; TSS score:0.38; Unmatched score:0.19; Average GERP:-0.7105534653465344 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001832 28636993 circ-ITCH rs11167234 A N/a 1,600 hcc cases and 1,800 cancer-free controls EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs11167234-A of circ-ITCH and its dysfunction is not significantly associated with Hepatocellular carcinoma by using case-control analysis in 1,600 HCC cases and 1,800 cancer-free controls . -0.4 Polymorphisms and expression pattern of circular RNA circ-ITCH contributes to the carcinogenesis of hepatocellular carcinoma. case-control analysis circ-ITCH circRNA Hepatocellular cancer -0.33 TTTTATTGTA(T > A)GAGTATACGA chr20: 34395813 0.723,0.277 0.72291507390417940,0.27708492609582059 Region score:0.34; TSS score:0.07; Unmatched score:0.12; Average GERP:0.2853980198019803 GeneName:ITCH; CADD-Score:2; Consquence:intron; GeneID:ENSG00000078747; TranscriptID:ENST00000262650; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001833 27965458 HOTAIR rs874945 A N/A 11 case-control studies EFO_0000311 N/A increasing risk cancer rs874945-A of HOTAIR and its dysfunction is significantly associated with the increasing risk of Cancer by using meta-analysis in 11 case-control studies 0.4 Association between the HOTAIR polymorphisms and cancer risk: an updated meta-analysis. meta-analysis HOTAIR lncRNA Cancer 0.33 TGTGAGAGAC(C > T)TCCAAGAGCG chr12: 53961667 0.6424,0.3576 0.62237194189602446,0.37762805810397553 Region score:0.24; TSS score:0.57; Unmatched score:0.67; Average GERP:-0.019772999999999978 GeneName:HOTAIR; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000228630; TranscriptID:ENST00000424518; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC12; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000123407; TranscriptID:ENST00000243103; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000052264; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000458640; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01905; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000275589; TranscriptID:ENST00000611210; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01906; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277994; TranscriptID:ENST00000611352; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001834 27863252 NONHSAT162404.1 rs1800973 A N/A 169,545 european ancestry individuals EFO_0007997 N/A Associate Granulocyte percentage of myeloid white cells rs1800973-A of NONHSAT162404.1 is significantly associated with the granulocyte percentage of myeloid white cells by using GWAS analysis in 169,545 european ancestry individuals(p-value = 1E-31 ;OR = 0.08705901). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT162404.1 lncRNA Granulocyte percentage of myeloid white cells 0.33 GATGGCAAAA(C > A)CCCAGGAGCA chr12: 69350234 0.9854,0.01458 0.95797496177370030,0.04202503822629969 Region score:0.32; TSS score:0.4; Unmatched score:0.47; Average GERP:1.9191316831683143 GeneName:AC020656.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000257764; TranscriptID:ENST00000548900; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LYZ; CADD-Score:7; Consquence:missense; GeneID:ENSG00000090382; TranscriptID:ENST00000261267; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000053735; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001835 28301487 MiR-196a-2 rs11614913 T Recessive 197 uc patients and 441 control EFO_0000729 N/A Decreasing risk Ulcerative colitis rs11614913-T of MiR-196a-2 and its dysfunction is significantly associated with the decreasing risk of ulcerative colitis by using case-control analysis in 197 UC patients and 441 control. By using the disease cell lines or tissues, the mutation of MiR-196a-2 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 Association of miR-196a-2 and miR-499 variants with ulcerative colitis and their correlation with expression of respective miRNAs. case-control analysis; Function hsa-mir-196a-2 miRNA Ulcerative colitis 0.503 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001835 20848167 miR-196a2 rs11614913 T N/A 170 UC and 403 control subjects EFO_0000729 N/A poor prognosis ulcerative colitis rs11614913-T of hsa-mir-196a-2 and its dysfunction is significantly associated with the increasing risk of Ulcerative colitis by using case-control analysis in 170 UC and 403 control subjects 0.4 Association study of common genetic variants in pre-microRNAs in patients with ulcerative colitis. case-control analysis hsa-mir-196a-2 miRNA Ulcerative colitis 0.503 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001835 27718165 MIR196A2 rs11614913 T N/a 207 ulcerative colitis patients and 298 matched healthy controls EFO_0000729 N/A No significance for risk Ulcerative colitis rs11614913-T of MIR196A2 and its dysfunction is not significantly associated with ulcerative colitis by using case-control analysis in 207 ulcerative colitis patients and 298 matched healthy controls. -0.4 Polymorphisms in MIR122, MIR196A2, and MIR124A Genes are Associated with Clinical Phenotypes in Inflammatory Bowel Diseases. case-control analysis hsa-mir-196a-2 miRNA Ulcerative colitis 0.503 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001836 29803923 HULC rs7763881 C N/A 521 patients and 817 sex- and age (卤5) frequency-matched controls in the risk study; Among them, 351 hepatocellular cancer patients were involved in the prognosis study. EFO_0000182 N/A no significance for risk hepatocellular carcinoma rs7763881-C of HULC and its dysfunction is not significantly associated with Hepatocellular carcinoma by using case-control analysis in 521 patients and 817 sex- and age (卤5) frequency-matched controls in the risk study; Among them, 351 hepatocellular cancer patients were involved in the prognosis study. -0.4 The association of lncRNA-HULC polymorphisms with hepatocellular cancer risk and prognosis. case-control analysis HULC lncRNA Hepatocellular carcinoma -0.33 GTTTGTCTGA(A > C)TTGACCTATT chr6: 8653014 0.5829,0.4171 0.56918960244648318,0.43081039755351681 Region score:0.24; TSS score:0.51; Unmatched score:0.77; Average GERP:-0.8653168316831686 GeneName:AL355499.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000285216; TranscriptID:ENST00000644718; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AL591485.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000285219; TranscriptID:ENST00000642357; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000782581; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF02101; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000276019; TranscriptID:ENST00000612720; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001837 27863252 NONHSAT166652.1 rs9549260 A N/A 172,952 european ancestry individuals EFO_0004305 N/A Associate Red blood cell count rs9549260-A of NONHSAT166652.1 is significantly associated with the red blood cell count by using GWAS analysis in 172,952 european ancestry individuals(p-value = 2E-9 ;OR = 0.02604552). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT166652.1 lncRNA Erythrocyte count 0.33 ATTACAATGA(C > A)TGTATGATCA chr13: 40679967 0.6382,0.3618 0.72211072884811416,0.27788927115188583 Region score:0.41; TSS score:0.41; Unmatched score:0.06; Average GERP:-0.1816542475247525 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000479668; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001838 28753643 NONHSAT211128.1 rs149232047 G N/A 481 european ancestry cases HP_0002014 in darapladib-treated cardiovascular disease (time to event) Associate Diarrhoea in darapladib-treated cardiovascular disease (time to event) rs149232047-G of NONHSAT211128.1 is significantly associated with the diarrhoea in darapladib-treated cardiovascular disease (time to event) by using GWAS analysis in 481 european ancestry cases(p-value = 5E-9 ;OR = 4.9). 0.4 Pharmacogenetic meta-analysis of baseline risk factors, pharmacodynamic, efficacy and tolerability endpoints from two large global cardiovascular outcomes trials for darapladib. genome-wide association analysis NONHSAT211128.1 lncRNA Diarrhea 0.33 GCAGTCATGT(A > G)TAACTGAAAA chr6: 126276990 0.9996,0.0003994 0.99984868756371049,0.00015131243628950 Region score:0.29; TSS score:0.18; Unmatched score:0.02; Average GERP:-1.0322287128712866 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001839 20694148 NONHSAT174304.1 rs2113334 ? N/A 2,554 indian asian ancestry individuals; 2,240 indian asian ancestry individuals EFO_0000195 N/A Associate Metabolic syndrome rs2113334-? of NONHSAT174304.1 is significantly associated with the metabolic syndrome by using GWAS analysis in 2,554 indian asian ancestry individuals; 2,240 indian asian ancestry individuals(p-value = 3E-6 ;OR = ?). 0.4 A genome-wide association study of the metabolic syndrome in Indian Asian men. genome-wide association analysis NONHSAT174304.1 lncRNA Metabolic syndrome 0.33 ATTCTCTCTT(T > C)GCCTGTATTT chr16: 13882499 0.5104,0.4896 0.38630064984709480,0.61369935015290519 Region score:0.39; TSS score:0.35; Unmatched score:0.13; Average GERP:0.005771287128712854 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001840 28199695 NONHSAT208963.1 rs3130646 G N/A 41,355 european ancestry men and 43,369 european ancestry women EFO_0008377 N/A Associate Itch intensity from mosquito bite adjusted by bite size rs3130646-G of NONHSAT208963.1 is significantly associated with the itch intensity from mosquito bite adjusted by bite size by using GWAS analysis in 41,355 european ancestry men and 43,369 european ancestry women(p-value = 3E-6 ;OR = 0.0231949). 0.4 GWAS of self-reported mosquito bite size, itch intensity and attractiveness to mosquitoes implicates immune-related predisposition loci. genome-wide association analysis NONHSAT208963.1 lncRNA Mosquito bite reaction itch intensity measurement 0.33 CAGGTGCTGG(C > A,G,T)GGGGTCTCCT chr6: 30830547 0.06969,.,0.9303,. 0.06458651885830784,0.00196706167176350,0.90945145259938837,0.02399496687054026 Region score:0.33; TSS score:0.39; Unmatched score:0.79; Average GERP:-0.03686871287128714 GeneName:LINC00243; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000214894; TranscriptID:ENST00000399196; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000787392; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001841 27424800 miR-1307-3p rs11191648 ? N/a Schizophrenias EFO_0000692 N/A Increasing risk Schizophrenia rs11191648-? of miR-1307-3p and its dysfunction is significantly associated with the increasing risk of Schizophrenia by using genome-wide association analysis in Schizophrenias. 0.4 Schizophrenia risk variants affecting microRNA function and site-specific regulation of NT5C2 by miR-206. genome-wide association analysis hsa-mir-1307 miRNA Schizophrenia 0.33 TTAGTAGAGA(T > C)GGGGTTTCAC chr10: 103300139 0.8524,0.1476 0.91426955912334352,0.08573044087665647 Region score:0.25; TSS score:0.19; Unmatched score:0.05; Average GERP:0 GeneName:PCGF6; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000156374; TranscriptID:ENST00000369847; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001842 25993607 NONHSAT188477.1 rs35548558 T N/A up to 627 cilento (founder/genetic isolate) individuals//up to 2,296 erasmus rupchen (founder/genetic isolate) individuals//up to 1,650 orcadian (founder/genetic isolate) individuals//up to 909 vis (founder/genetic isolate) individuals//up to 58,179 european ancestry individuals; up to 9,786 european ancestry individuals EFO_0007660 N/A Associate Neuroticism rs35548558-T of NONHSAT188477.1 is significantly associated with the neuroticism by using GWAS analysis in up to 627 cilento (founder/genetic isolate) individuals//up to 2,296 erasmus rupchen (founder/genetic isolate) individuals//up to 1,650 orcadian (founder/genetic isolate) individuals//up to 909 vis (founder/genetic isolate) individuals//up to 58,179 european ancestry individuals; up to 9,786 european ancestry individuals(p-value = 4E-6 ;OR = 0.027). 0.4 Meta-analysis of Genome-wide Association Studies for Neuroticism, and the Polygenic Association With Major Depressive Disorder. genome-wide association analysis NONHSAT188477.1 lncRNA Neuroticism measurement 0.33 TGGTTTCTCC(T > C)GGTTTCTCCT chr20: 12708954 0.4928,0.5072 0.56246814475025484,0.43753185524974515 Region score:0.31; TSS score:0.09; Unmatched score:0.09; Average GERP:-0.2112277227722772 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001843 24684796 NONHSAT170351.1 rs17244419 T N/A 423 type 2 diabetes cases and 127 unaffected siblings from 257 families EFO_0003925 N/A Associate Cognitive function rs17244419-T of NONHSAT170351.1 is significantly associated with the cognitive function by using GWAS analysis in 423 type 2 diabetes cases and 127 unaffected siblings from 257 families(p-value = 8E-6 ;OR = 8.6504). 0.4 Heritability and genetic association analysis of cognition in the Diabetes Heart Study. genome-wide association analysis NONHSAT170351.1 lncRNA Cognition 0.33 CCCTGAGGGT(C > T)CCCAATGCCA chr14: 96704738 0.9427,0.05731 0.96809696738022426,0.03190303261977573 Region score:0.29; TSS score:0.17; Unmatched score:0.14; Average GERP:-0.7325415841584156 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001844 28232668 NONHSAT192873.1 rs5756130 A N/A 2,033 han chinese ancestry cases//4,051 han chinese ancestry controls; 1,346 han chinese ancestry cases//4,542 han chinese ancestry controls EFO_0003959 N/A Associate Nonsyndromic cleft lip with cleft palate rs5756130-A of NONHSAT192873.1 is significantly associated with the nonsyndromic cleft lip with cleft palate by using GWAS analysis in 2,033 han chinese ancestry cases//4,051 han chinese ancestry controls; 1,346 han chinese ancestry cases//4,542 han chinese ancestry controls(p-value = 6E-6 ;OR = 1.21). 0.4 Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity. genome-wide association analysis NONHSAT192873.1 lncRNA Cleft lip 0.33 TGGCTTCGTC(C > T)CGGTTCTTGT chr22: 36288285 0.9038,0.09625 0.92567373853211009,0.07432626146788990 Region score:0.35; TSS score:0.21; Unmatched score:0.51; Average GERP:2.899445544554455 GeneName:MIR6819; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000278420; TranscriptID:ENST00000622122; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYH9; CADD-Score:5; Consquence:synonymous; GeneID:ENSG00000100345; TranscriptID:ENST00000216181; AnnoType:SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001845 28441456 NONHSAT176361.1 rs11650482 A N/A 2,187 european ancestry individuals EFO_0007843 N/A Associate Facial morphology (factor 21//depth of nasal alae) rs11650482-A of NONHSAT176361.1 is significantly associated with the facial morphology (factor 21//depth of nasal alae) by using GWAS analysis in 2,187 european ancestry individuals(p-value = 3E-6 ;OR = 0.1866). 0.4 Genome-wide association study of facial morphology reveals novel associations with FREM1 and PARK2. genome-wide association analysis NONHSAT176361.1 lncRNA Nose morphology measurement 0.33 GATTACAGGC(G > A)TGAGCCACCA chr17: 55271811 0.9263,0.07368 0.88018444189602446,0.11981555810397553 Region score:0.37; TSS score:0.32; Unmatched score:0.53; Average GERP:-0.04485049504950499 GeneName:AC007638.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000263096; TranscriptID:ENST00000574716; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HLF; CADD-Score:2; Consquence:intron; GeneID:ENSG00000108924; TranscriptID:ENST00000226067; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001846 27989323 NONHSAT188110.1 rs188592169 C N/A 8,293 finnish ancestry individuals EFO_0008264 N/A Associate Platelet-derived growth factor bb levels rs188592169-C of NONHSAT188110.1 is significantly associated with the platelet-derived growth factor bb levels by using GWAS analysis in 8,293 finnish ancestry individuals(p-value = 4E-7 ;OR = 0.2623). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. genome-wide association analysis NONHSAT188110.1 lncRNA Platelet-derived growth factor bb measurement 0.33 GACAACGTGG(C > T)CTTTATGAAG chr2: 224441159 0.998,0.001997 0.99633664627930682,0.00366335372069317 Region score:0.34; TSS score:0.39; Unmatched score:0.34; Average GERP:-0.740760198019802 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001847 19483685 NONHSAT207105.1 rs2395029 ? N/A 58 european ancestry cases//282 european ancestry controls EFO_0004228 N/A Associate Drug-induced liver injury (flucloxacillin) rs2395029-? of NONHSAT207105.1 is significantly associated with the drug-induced liver injury (flucloxacillin) by using GWAS analysis in 58 european ancestry cases//282 european ancestry controls(p-value = 9E-33 ;OR = 45.0). 0.4 HLA-B*5701 genotype is a major determinant of drug-induced liver injury due to flucloxacillin. genome-wide association analysis NONHSAT207105.1 lncRNA Drug-induced liver injury 0.33 AATTCCCCTG(T > G)GGCAGCTGTA chr6: 31464003 0.9667,0.03335 0.97352828746177370,0.02647171253822629 Region score:0.33; TSS score:0.37; Unmatched score:0.78; Average GERP:0 GeneName:AL645933.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000233902; TranscriptID:ENST00000440087; AnnoType:UPSTREAM; mirSVR-Score:-0.2598; mirSVR-E:-16.72 | GeneName:HCP5; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000206337; TranscriptID:ENST00000414046; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.2598; mirSVR-E:-16.72 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000195544; AnnoType:REGULATORY; mirSVR-Score:-0.2598; mirSVR-E:-16.72 | NCRV0000001848 27863252 NONHSAT197523.1 rs6782228 C N/A 172,435 european ancestry individuals EFO_0004308 N/A Associate White blood cell count rs6782228-C of NONHSAT197523.1 is significantly associated with the white blood cell count by using GWAS analysis in 172,435 european ancestry individuals(p-value = 1E-14 ;OR = 0.03151812). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT197523.1 lncRNA Leukocyte count 0.33 AGCCAGGCAG(G > C)ACTGGACTTG chr3: 128604581 0.6859,0.3141 0.71094546381243628,0.28905453618756371 Region score:0.25; TSS score:0.41; Unmatched score:0.29; Average GERP:-0.473041287128713 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000700244; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001849 28928442 NONHSAT108895.2 rs169504 ? N/A 40,600 european ancestry cases//90,039 european ancestry controls EFO_0008410 N/A Associate Pneumonia rs169504-? of NONHSAT108895.2 is significantly associated with the pneumonia by using GWAS analysis in 40,600 european ancestry cases//90,039 european ancestry controls(p-value = 5E-9 ;OR = 0.0694). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. genome-wide association analysis NONHSAT108895.2 lncRNA Susceptibility to pneumonia measurement 0.33 ACCACCACCA(C > A)CAACAACAAC chr6: 32185629 0.8125,0.1875 0.79643699031600407,0.20356300968399592 Region score:0.41; TSS score:0.55; Unmatched score:0.69; Average GERP:1.0366836734693878 GeneName:AGER; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000204305; TranscriptID:ENST00000375069; AnnoType:UPSTREAM; mirSVR-Score:-0.6551; mirSVR-E:-24.39 | GeneName:AL662884.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000273333; TranscriptID:ENST00000559458; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.6551; mirSVR-E:-24.39 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000787837; AnnoType:REGULATORY; mirSVR-Score:-0.6551; mirSVR-E:-24.39 | GeneName:PBX2; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000204304; TranscriptID:ENST00000375050; AnnoType:3PRIME_UTR; mirSVR-Score:-0.6551; mirSVR-E:-24.39 | GeneName:RNF5; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000204308; TranscriptID:ENST00000375094; AnnoType:DOWNSTREAM; mirSVR-Score:-0.6551; mirSVR-E:-24.39 | NCRV0000001850 27863252 NONHSAT080588.2 rs79067846 C N/A 164,433 european ancestry individuals EFO_0007984 N/A Associate Platelet distribution width rs79067846-C of NONHSAT080588.2 is significantly associated with the platelet distribution width by using GWAS analysis in 164,433 european ancestry individuals(p-value = 5E-54 ;OR = 0.2318122). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT080588.2 lncRNA Platelet distribution width 0.33 TCTCCTTTGT(G > C)CATAACCCCT chr20: 58849813 0.9974,0.002596 0.99176541794087665,0.00823458205912334 Region score:0.39; TSS score:0.45; Unmatched score:0.64; Average GERP:-1.1044871287128712 GeneName:GNAS-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000235590; TranscriptID:ENST00000424094; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GNAS; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000087460; TranscriptID:ENST00000371100; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000656252; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF02130; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000274491; TranscriptID:ENST00000616546; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF02131; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000275069; TranscriptID:ENST00000614281; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001851 29361163 RP11-679B19.1 rs11861007 A N/a 322 crohn's diseas cases with fibrostenotis [recurrent after surgery] and 619 cases with purely inflammatory crohn's diseas EFO_0000384 N/A Increasing risk Fibrostenotic crohn's diseas rs11861007-A of RP11-679B19.1 and its dysfunction is significantly associated with the increasing risk of Fibrostenotic Crohn's Diseas by using genome-wide association analysis in 322 Crohn's diseas cases with fibrostenotis [recurrent after surgery] and 619 cases with purely inflammatory Crohn's diseas. By using the disease cell lines or tissues, the mutation of RP11-679B19.1 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 Genomic and Expression Analyses Identify a Disease-Modifying Variant for Fibrostenotic Crohn's Disease. genome-wide association analysis; Function RP11-679B19.1 lncRNA Crohn's disease 0.593 GCCTATTTTT(C > T)TCTAAAACTT chr16: 79204788 0.8556,0.1444 0.87599547655453618,0.12400452344546381 Region score:0.2; TSS score:0.24; Unmatched score:0.04; Average GERP:-0.802370297029703 GeneName:AC092376.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000277954; TranscriptID:ENST00000622621; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC092376.3; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000285918; TranscriptID:ENST00000649926; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:WWOX; CADD-Score:2; Consquence:intron; GeneID:ENSG00000186153; TranscriptID:ENST00000566780; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001852 28334935 NONHSAT100134.2 rs10064177 G N/A 12,375 hispanic/latino individuals EFO_0004459 N/A Associate Iron status biomarkers (ferritin levels) rs10064177-G of NONHSAT100134.2 is significantly associated with the iron status biomarkers (ferritin levels) by using GWAS analysis in 12,375 hispanic/latino individuals(p-value = 9E-8 ;OR = 0.024). 0.4 Genome-wide association study of iron traits and relation to diabetes in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL): potential genomic intersection of iron and glucose regulation? genome-wide association analysis NONHSAT100134.2 lncRNA Ferritin measurement 0.33 TCATTCATTC(G > A)TTGCTGGTGG chr5: 4439147 0.4551,0.5449 0.42999808868501529,0.57000191131498470 Region score:0.25; TSS score:0.17; Unmatched score:0.23; Average GERP:0 GeneName:AC106799.3; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000260763; TranscriptID:ENST00000562127; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001853 27082954 NONHSAT166694.1 rs7982202 ? N/A 104 european ancestry cases//1,519 european ancestry controls//34 african american cases//520 african american controls EFO_0004265 traffic-related air pollution interaction Associate Peripheral arterial disease (traffic-related air pollution interaction) rs7982202-? of NONHSAT166694.1 is significantly associated with the peripheral arterial disease (traffic-related air pollution interaction) by using GWAS analysis in 104 european ancestry cases//1,519 european ancestry controls//34 african american cases//520 african american controls(p-value = 9E-6 ;OR = 6.73). 0.4 Genetic Variants in the Bone Morphogenic Protein Gene Family Modify the Association between Residential Exposure to Traffic and Peripheral Arterial Disease. genome-wide association analysis NONHSAT166694.1 lncRNA Peripheral arterial disease 0.33 ATAGGAATGT(A > G)CTAGTCTCCC chr13: 44298486 0.9595,0.04054 0.97027108817533129,0.02972891182466870 Region score:0.39; TSS score:0.35; Unmatched score:0.16; Average GERP:-0.44690990099009886 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000062129; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001854 29083406 NONHSAT161546.1 rs12365699 G N/A 180,129 european ancestry cases//180,709 european ancestry controls EFO_0003785 N/A Associate Allergic disease (asthma//hay fever or eczema) rs12365699-G of NONHSAT161546.1 is significantly associated with the allergic disease (asthma//hay fever or eczema) by using GWAS analysis in 180,129 european ancestry cases//180,709 european ancestry controls(p-value = 5E-18 ;OR = 1.061). 0.4 Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology. genome-wide association analysis NONHSAT161546.1 lncRNA Allergy 0.33 GAGGAGCTCC(G > A)TGATCAAGGT chr11: 118872577 0.9303,0.06969 0.88605377166156982,0.11394622833843017 Region score:0.5; TSS score:0.58; Unmatched score:0.35; Average GERP:1.5517574257425741 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001855 27010768 HOTAIR rs920778 T N/a 7,151 cases and 8,740 controls EFO_1000218 N/A Increased risk and poor prognosis Digestive cancers rs920778-T of HOTAIR and its dysfunction is significantly associated with the increasing risk and poor prognosis of digestive cancers by using meta-analysis in 7,151 cases and 8,740 controls. 0.4 Quantitative Assessment of the Polymorphisms in the HOTAIR lncRNA and Cancer Risk: A Meta-Analysis of 8 Case-Control Studies. meta-analysis HOTAIR lncRNA Digestive system cancer 0.33 TGAATGTTAC(G > A)GTTTCCTTCA chr12: 53966448 0.4401,0.5599 0.43194922273190621,0.56805077726809378 Region score:0.25; TSS score:0.53; Unmatched score:0.76; Average GERP:2.310435643564358 GeneName:AC012531.4; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000274817; TranscriptID:ENST00000616509; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC012531.5; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277129; TranscriptID:ENST00000611375; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOTAIR; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000228630; TranscriptID:ENST00000424518; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000458643; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01905; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000275589; TranscriptID:ENST00000611210; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01906; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000277994; TranscriptID:ENST00000611352; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001856 27863252 NONHSAT179793.1 rs429358 C N/A 166,066 european ancestry individuals EFO_0004309 N/A Associate Platelet count rs429358-C of NONHSAT179793.1 is significantly associated with the platelet count by using GWAS analysis in 166,066 european ancestry individuals(p-value = 3E-9 ;OR = 0.0301972). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT179793.1 lncRNA Platelet count 0.33 GGAGGACGTG(T > C)GCGGCCGCCT chr19: 44908684 0.8494,0.1506 0.84440303261977573,0.15559696738022426 Region score:0.28; TSS score:0.39; Unmatched score:0.64; Average GERP:1.473687128712871 GeneName:AC011481.3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000280087; TranscriptID:ENST00000623895; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:APOE; CADD-Score:7; Consquence:missense; GeneID:ENSG00000130203; TranscriptID:ENST00000252486; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TOMM40; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000130204; TranscriptID:ENST00000252487; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001857 24324551 NONHSAT148967.1 rs1776421 ? N/A 580 brazilian ancestry individuals EFO_0005529 N/A Associate Pr interval in tripanosoma cruzi seropositivity rs1776421-? of NONHSAT148967.1 is significantly associated with the pr interval in tripanosoma cruzi seropositivity by using GWAS analysis in 580 brazilian ancestry individuals(p-value = 6E-6 ;OR = ?). 0.4 Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects. genome-wide association analysis NONHSAT148967.1 lncRNA Chagas cardiomyopathy 0.33 CTGGGGACAA(C > T)GCTGATCTAT chr1: 53418785 0.7486,0.2514 0.76146788990825688,0.23853211009174311 Region score:0.29; TSS score:0.25; Unmatched score:0.23; Average GERP:0.03580693069306926 GeneName:SLC25A3P1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000236253; TranscriptID:ENST00000563752; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001858 25811787 NONHSAT192210.1 rs11705126 C N/A 4,613 european ancestry male individuals//4,690 european ancestry female individuals//142 european ancestry individuals EFO_0004531 N/A Associate Urate levels in obese individuals rs11705126-C of NONHSAT192210.1 is significantly associated with the urate levels in obese individuals by using GWAS analysis in 4,613 european ancestry male individuals//4,690 european ancestry female individuals//142 european ancestry individuals(p-value = 4E-6 ;OR = 0.236). 0.4 Modulation of genetic associations with serum urate levels by body-mass-index in humans. genome-wide association analysis NONHSAT192210.1 lncRNA Urate measurement 0.33 TGCCCAAAAA(G > A,C)GAAAAAAAAA chr22: 27519985 0.9898,.,0.01018 0.98575273955147808,0.00001592762487257,0.01423133282364933 Region score:0.33; TSS score:0.24; Unmatched score:0.07; Average GERP:-0.11773069306930692 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001859 22818121 miR-27a rs895819 C N/a 388 patients with nsclc EFO_0003060 N/A No significance for risk Non-small cell lung cancer rs895819-C of miR-27a and its dysfunction is not significantly associated with non-small cell lung cancer by using analysis of sequence variation in 388 patients with NSCLC. -0.4 The prognostic impact of microRNA sequence polymorphisms on the recurrence of patients with completely resected non-small cell lung cancer. analysis of sequence variation hsa-mir-27a miRNA Non-small cell lung cancer 0.181 CACGACTTGG(T > C)GTGGACCCTG chr19: 13836478 0.6362,0.3638 0.63091711264016309,0.36908288735983690 Region score:0.57; TSS score:0.41; Unmatched score:0.75; Average GERP:2.158386138613861 GeneName:AC020916.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000267519; TranscriptID:ENST00000587762; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR23A; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207980; TranscriptID:ENST00000385245; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR24-2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284387; TranscriptID:ENST00000386972; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR27A; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207808; TranscriptID:ENST00000385073; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000107447; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ZSWIM4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000132003; TranscriptID:ENST00000254323; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001859 25773791 miR-27a rs895819 G Dominant 560 clinical confirmed cases and 568 healthy check-up individuals EFO_0003060 N/A increasing risk non-small cell lung carcinoma rs895819-G of hsa-mir-27a and its dysfunction is significantly associated with the increasing risk of Non-small cell lung carcinoma by using case-control analysis in 560 clinical confirmed cases and 568 healthy check-up individuals 0.4 Rs895819 within miR-27a might be involved in development of non small cell lung cancer in the Chinese Han population. case-control analysis hsa-mir-27a miRNA Non-small cell lung carcinoma 0.181 CACGACTTGG(T > C)GTGGACCCTG chr19: 13836478 0.6362,0.3638 0.63091711264016309,0.36908288735983690 Region score:0.57; TSS score:0.41; Unmatched score:0.75; Average GERP:2.158386138613861 GeneName:AC020916.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000267519; TranscriptID:ENST00000587762; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR23A; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207980; TranscriptID:ENST00000385245; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR24-2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284387; TranscriptID:ENST00000386972; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR27A; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207808; TranscriptID:ENST00000385073; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000107447; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ZSWIM4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000132003; TranscriptID:ENST00000254323; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001859 24223174 miR-27a rs895819 G Dominant 576 non-small cell lung cancer patients in a Chinese population. EFO_0003060 N/A poor prognosis non-small cell lung carcinoma rs895819-G of hsa-mir-27a and its dysfunction is significantly associated with the poor prognosis of Non-small cell lung carcinoma by using case-control analysis in 576 non-small cell lung cancer patients in a Chinese population. 0.4 A genetic polymorphism in pre-miR-27a confers clinical outcome of non-small cell lung cancer in a Chinese population. case-control analysis hsa-mir-27a miRNA Non-small cell lung carcinoma 0.181 CACGACTTGG(T > C)GTGGACCCTG chr19: 13836478 0.6362,0.3638 0.63091711264016309,0.36908288735983690 Region score:0.57; TSS score:0.41; Unmatched score:0.75; Average GERP:2.158386138613861 GeneName:AC020916.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000267519; TranscriptID:ENST00000587762; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR23A; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207980; TranscriptID:ENST00000385245; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR24-2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284387; TranscriptID:ENST00000386972; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR27A; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207808; TranscriptID:ENST00000385073; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000107447; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ZSWIM4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000132003; TranscriptID:ENST00000254323; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001860 28240269 NONHSAT189492.1 rs2424590 ? N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0004617 N/A Associate Blood protein levels rs2424590-? of NONHSAT189492.1 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 4E-13 ;OR = ?). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. genome-wide association analysis NONHSAT189492.1 lncRNA Cystatin c measurement 0.33 TGGAGGAAAC(C > T)AGGCTTCACC chr20: 23656343 0.1655,0.8345 0.15677561162079510,0.84322438837920489 Region score:0.54; TSS score:0.41; Unmatched score:0.84; Average GERP:-1.562157425742574 GeneName:AL121894.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000225056; TranscriptID:ENST00000450971; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001861 27846195 NONHSAT221902.1 rs202106186 ? N/A 1,390 european ancestry individuals EFO_0000692 paliperidone Associate Response to paliperidone in schizophrenia (multivariate) rs202106186-? of NONHSAT221902.1 is significantly associated with the response to paliperidone in schizophrenia (multivariate) by using GWAS analysis in 1,390 european ancestry individuals(p-value = 9E-6 ;OR = ?). 0.4 Genome-wide association study of paliperidone efficacy. genome-wide association analysis NONHSAT221902.1 lncRNA Schizophrenia 0.33 AGACTCCATC(TCAAA > T)CAAACAAACA chr9: 70368817 0.9768,0.02316 0.98088685015290519,0.01911314984709480 N/A GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001862 22778062 SNORD114-18 rs12893444 G N/a N/a function N/A Not significant changes in the structure Function rs12893444-G of SNORD114-18 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD114-18 snoRNA Function -0.049 TACATGTCTG(A > G)AATTCTGAGG chr14: 100975881 0.5096,0.4904 0.43838398318042813,0.56161601681957186 Region score:0.44; TSS score:0.13; Unmatched score:0.48; Average GERP:-1.4116534653465347 GeneName:MEG8; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000225746; TranscriptID:ENST00000638012; AnnoType:INTRONIC; mirSVR-Score:-1.0741; mirSVR-E:-12.50 | GeneName:RF00181; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000201036; TranscriptID:ENST00000364166; AnnoType:UPSTREAM; mirSVR-Score:-1.0741; mirSVR-E:-12.50 | GeneName:RF00181; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000201500; TranscriptID:ENST00000364630; AnnoType:UPSTREAM; mirSVR-Score:-1.0741; mirSVR-E:-12.50 | GeneName:RF00181; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000201710; TranscriptID:ENST00000364840; AnnoType:UPSTREAM; mirSVR-Score:-1.0741; mirSVR-E:-12.50 | GeneName:SNORD114-14; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000199593; TranscriptID:ENST00000362723; AnnoType:DOWNSTREAM; mirSVR-Score:-1.0741; mirSVR-E:-12.50 | GeneName:SNORD114-15; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000201557; TranscriptID:ENST00000364687; AnnoType:DOWNSTREAM; mirSVR-Score:-1.0741; mirSVR-E:-12.50 | GeneName:SNORD114-16; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000199914; TranscriptID:ENST00000363044; AnnoType:DOWNSTREAM; mirSVR-Score:-1.0741; mirSVR-E:-12.50 | GeneName:SNORD114-17; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000201569; TranscriptID:ENST00000364699; AnnoType:DOWNSTREAM; mirSVR-Score:-1.0741; mirSVR-E:-12.50 | GeneName:SNORD114-18; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000202142; TranscriptID:ENST00000365272; AnnoType:NONCODING_CHANGE; mirSVR-Score:-1.0741; mirSVR-E:-12.50 | GeneName:SNORD114-19; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000199942; TranscriptID:ENST00000363072; AnnoType:UPSTREAM; mirSVR-Score:-1.0741; mirSVR-E:-12.50 | NCRV0000001863 27863252 NONHSAT076891.2 rs55799208 A N/A 171,542 european ancestry individuals EFO_0007990 N/A Associate Neutrophil percentage of white cells rs55799208-A of NONHSAT076891.2 is significantly associated with the neutrophil percentage of white cells by using GWAS analysis in 171,542 european ancestry individuals(p-value = 3E-25 ;OR = 0.3710271). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT076891.2 lncRNA Neutrophil percentage of leukocytes 0.33 CATGCCACAC(G > A)CACACTGACC chr2: 218135259 0.9992,0.0007987 0.99875764525993883,0.00124235474006116 Region score:0.3; TSS score:0.45; Unmatched score:0.56; Average GERP:2.868386138613863 GeneName:CXCR2; CADD-Score:7; Consquence:missense; GeneID:ENSG00000180871; TranscriptID:ENST00000318507; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001864 29064472 NONHSAT180693.1 rs7246760 A N/A 114 african ancestry schizophrenia cases//69 african schizo-affective cases//41 african ancestry bipolar disorder cases//76 african ancestry controls//116 european ancestry schizophrenia cases//86 european ancestry schizo-affective cases//165 european ancestry bipolar disorder cases//182 european ancestry controls EFO_0005407 N/A Associate Pursuit maintenance gain rs7246760-A of NONHSAT180693.1 is significantly associated with the pursuit maintenance gain by using GWAS analysis in 114 african ancestry schizophrenia cases//69 african schizo-affective cases//41 african ancestry bipolar disorder cases//76 african ancestry controls//116 european ancestry schizophrenia cases//86 european ancestry schizo-affective cases//165 european ancestry bipolar disorder cases//182 european ancestry controls(p-value = 5E-6 ;OR = ?). 0.4 Genome-wide association studies of smooth pursuit and antisaccade eye movements in psychotic disorders: findings from the B-SNIP study. genome-wide association analysis NONHSAT180693.1 lncRNA Psychosis 0.33 TCACCCTCAT(G > A)TTCTCCCAAA chr19: 9807553 0.7935,0.2065 0.82801350662589194,0.17198649337410805 Region score:0.29; TSS score:0.28; Unmatched score:0.18; Average GERP:-0.23481485148514855 GeneName:FBXL12; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000127452; TranscriptID:ENST00000247977; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000584130; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001865 23966867 NONHSAT025197.2 rs10894604 T N/A up to 19,744 african american individuals; up to 7,606 african american individuals EFO_0004343 N/A Associate Waist-hip ratio rs10894604-T of NONHSAT025197.2 is significantly associated with the waist-hip ratio by using GWAS analysis in up to 19,744 african american individuals; up to 7,606 african american individuals(p-value = 4E-7 ;OR = 0.06). 0.4 Genome-wide association of body fat distribution in African ancestry populations suggests new loci. genome-wide association analysis NONHSAT025197.2 lncRNA Waist-hip ratio 0.33 AGAAAAAAAG(T > G)GTTACATCTC chr11: 132771851 0.8492,0.1508 0.74638442915392456,0.25361557084607543 Region score:0.35; TSS score:0.18; Unmatched score:0.07; Average GERP:-0.13730594059405965 GeneName:AP003784.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000279497; TranscriptID:ENST00000622964; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000447247; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:OPCML; CADD-Score:2; Consquence:intron; GeneID:ENSG00000183715; TranscriptID:ENST00000331898; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001866 27958378 NONHSAT207607.1 rs10484885 ? N/A 2,095 european ancestry exposed individuals//42,907 european ancestry unexposed individuals//1,167 african american exposed individuals//10,564 african american unexposed individuals//794 hispanic/latino american exposed individuals//14,330 hispanic/latino american unexposed individuals EFO_0003777 sulfonylurea treatment interaction Associate Qrs interval (sulfonylurea treatment interaction) rs10484885-? of NONHSAT207607.1 is significantly associated with the qrs interval (sulfonylurea treatment interaction) by using GWAS analysis in 2,095 european ancestry exposed individuals//42,907 european ancestry unexposed individuals//1,167 african american exposed individuals//10,564 african american unexposed individuals//794 hispanic/latino american exposed individuals//14,330 hispanic/latino american unexposed individuals(p-value = 9E-7 ;OR = 3.5). 0.4 Large-scale pharmacogenomic study of sulfonylureas and the QT, JT and QRS intervals: CHARGE Pharmacogenomics Working Group. genome-wide association analysis NONHSAT207607.1 lncRNA Heart disease 0.33 GTGAAACTTA(T > C)TGTAAAATCA chr6: 89685297 0.9085,0.09145 0.90198936034658511,0.09801063965341488 Region score:0.5; TSS score:0.2; Unmatched score:0.14; Average GERP:-0.36446831683168307 GeneName:MDN1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000112159; TranscriptID:ENST00000369393; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001867 28039263 NONHSAT030960.2 rs10850703 A N/A 511 european ancestry testicular cancer survivor individuals; 238 children EFO_0006951 N/A Associate Cisplatin-induced ototoxicity rs10850703-A of NONHSAT030960.2 is significantly associated with the cisplatin-induced ototoxicity by using GWAS analysis in 511 european ancestry testicular cancer survivor individuals; 238 children(p-value = 8E-6 ;OR = 4.472). 0.4 Variants in WFS1 and Other Mendelian Deafness Genes Are Associated with Cisplatin-Associated Ototoxicity. genome-wide association analysis NONHSAT030960.2 lncRNA Ototoxicity 0.33 AGAATTCTGG(C > A)TTCGGGAGAA chr12: 116702884 0.4537,0.5463 0.45546636085626911,0.54453363914373088 Region score:0.21; TSS score:0.32; Unmatched score:0.46; Average GERP:-1.1564412871287124 GeneName:AC125603.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000257654; TranscriptID:ENST00000552718; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC125603.2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000257883; TranscriptID:ENST00000546835; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000270395; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001868 27863252 NONHSAT157923.1 rs118033845 A N/A 164,454 european ancestry individuals EFO_0004584 N/A Associate Mean platelet volume rs118033845-A of NONHSAT157923.1 is significantly associated with the mean platelet volume by using GWAS analysis in 164,454 european ancestry individuals(p-value = 6E-12 ;OR = 0.06951009). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT157923.1 lncRNA Mean platelet volume 0.33 GAGCTCAAGA(G > A)GAAACGCAAG chr10: 11794093 0.9824,0.01757 0.97563869775739041,0.02436130224260958 Region score:0.5; TSS score:0.56; Unmatched score:0.52; Average GERP:-0.4397653465346533 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000258198; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000396035; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001869 29228715 NONHSAT205299.1 rs13170463 ? N/A 978 austrian ancestry colorectal cancer cases//636 austrian ancestry advanced colorectal adenoma cases//4,294 european ancestry controls EFO_0005842 N/A Associate Colorectal cancer rs13170463-? of NONHSAT205299.1 is significantly associated with the colorectal cancer by using GWAS analysis in 978 austrian ancestry colorectal cancer cases//636 austrian ancestry advanced colorectal adenoma cases//4,294 european ancestry controls(p-value = 5E-6 ;OR = 1.667). 0.4 Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas. genome-wide association analysis NONHSAT205299.1 lncRNA Colorectal cancer 0.33 AGTTAAACCC(G > A)GTGCTCTCTC chr5: 7983139 0.9621,0.03794 0.96331867991845056,0.03668132008154943 Region score:0.24; TSS score:0.21; Unmatched score:0.21; Average GERP:-0.23651485148514836 GeneName:RNU1-76P; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000199773; TranscriptID:ENST00000362903; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001870 23728906 NONHSAT091125.2 rs679711 T N/A 2,314 european ancestry individuals EFO_0005273 N/A Associate Sleep depth rs679711-T of NONHSAT091125.2 is significantly associated with the sleep depth by using GWAS analysis in 2,314 european ancestry individuals(p-value = 1E-6 ;OR = 0.1). 0.4 A genome-wide association study of sleep habits and insomnia. genome-wide association analysis NONHSAT091125.2 lncRNA Sleep depth 0.33 CTCTGGCTTC(T > C)GTGGAGGAAG chr3: 109810703 0.3746,0.6254 0.41202376401630988,0.58797623598369011 Region score:0.4; TSS score:0.33; Unmatched score:0.52; Average GERP:-0.28006257425742564 GeneName:AC078980.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000242029; TranscriptID:ENST00000485384; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001871 27910778 miR3202 rs188912830 C Dominant Lung cancer EFO_0001071 N/A Decreasing risk Lung cancer rs188912830-C of miR3202 and its dysfunction is significantly associated with the decreasing risk of lung cancer by using analysis of sequence variation in lung cancer. 0.4 miRSNPs of miR1274 and miR3202 Genes that Target MeCP2 and DNMT3b Are Associated with Lung Cancer Risk: A Study Conducted on MassARRAY Genotyping. analysis of sequence variation hsa-mir-3202-1 miRNA Lung cancer 0.33 TGCGAAATTT(A > C)TTAATATGGA chrX: 153981098 N/A 0 Region score:0.39; TSS score:0.35; Unmatched score:0.88; Average GERP:-0.43114356435643597 GeneName:MIR3202-1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000265176; TranscriptID:ENST00000580198; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3202-2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000283694; TranscriptID:ENST00000635980; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TMEM187; CADD-Score:2; Consquence:intron; GeneID:ENSG00000177854; TranscriptID:ENST00000369982; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001872 27863252 NONHSAT192221.1 rs5762813 T N/A 172,925 european ancestry individuals EFO_0004509 N/A Associate Hemoglobin concentration rs5762813-T of NONHSAT192221.1 is significantly associated with the hemoglobin concentration by using GWAS analysis in 172,925 european ancestry individuals(p-value = 5E-11 ;OR = 0.03005343). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT192221.1 lncRNA Hemoglobin measurement 0.33 TGGCTAATTT(C > T)TTTTGTTTGT chr22: 28807326 0.6581,0.3419 0.73393699031600407,0.26606300968399592 Region score:0.28; TSS score:0.1; Unmatched score:0.1; Average GERP:0.12216161616161605 GeneName:Z93930.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000226471; TranscriptID:ENST00000458080; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001873 26634245 NONHSAT047599.2 rs4887086 T N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs4887086-T of NONHSAT047599.2 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 1E-6 ;OR = 0.055). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT047599.2 lncRNA Pulmonary function measurement 0.33 AGAGAAGAAG(C > G,T)GTGACATACA chr15: 78734187 0.7023,.,0.2977 0.66152204383282364,0.00046190112130479,0.33801605504587155 Region score:0.35; TSS score:0.4; Unmatched score:0.45; Average GERP:0.174079207920792 GeneName:AC022748.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000261303; TranscriptID:ENST00000564933; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001874 19430482 NONHSAT140921.2 rs12917707 T N/A 2,388 european ancestry cases//17,489 european ancestry controls; 1,932 cases//19,534 controls EFO_0003884 N/A Associate Renal function and chronic kidney disease rs12917707-T of NONHSAT140921.2 is significantly associated with the renal function and chronic kidney disease by using GWAS analysis in 2,388 european ancestry cases//17,489 european ancestry controls; 1,932 cases//19,534 controls(p-value = 5E-16 ;OR = 0.02). 0.4 Multiple loci associated with indices of renal function and chronic kidney disease. genome-wide association analysis NONHSAT140921.2 lncRNA Chronic kidney disease 0.599 CGAGGCAGGT(G > T)AGCCTTACAC chr16: 20356368 0.9018,0.09824 0.87375764525993883,0.12624235474006116 Region score:0.43; TSS score:0.46; Unmatched score:0.51; Average GERP:0.4125980198019801 GeneName:PDILT; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000169340; TranscriptID:ENST00000302451; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:UMOD; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000169344; TranscriptID:ENST00000396134; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001874 20383146 NONHSAT140921.2 rs12917707 T N/A up to 67,093 european ancestry individuals; up to 22,982 european ancestry individuals EFO_0003884 N/A Associate Chronic kidney disease rs12917707-T of NONHSAT140921.2 is significantly associated with the chronic kidney disease by using GWAS analysis in up to 67,093 european ancestry individuals; up to 22,982 european ancestry individuals(p-value = 1E-20 ;OR = ?). 0.4 New loci associated with kidney function and chronic kidney disease. genome-wide association analysis NONHSAT140921.2 lncRNA Chronic kidney disease 0.599 CGAGGCAGGT(G > T)AGCCTTACAC chr16: 20356368 0.9018,0.09824 0.87375764525993883,0.12624235474006116 Region score:0.43; TSS score:0.46; Unmatched score:0.51; Average GERP:0.4125980198019801 GeneName:PDILT; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000169340; TranscriptID:ENST00000302451; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:UMOD; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000169344; TranscriptID:ENST00000396134; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001874 25493955 NONHSAT140921.2 rs12917707 T N/A up to 45,530 european ancestry individuals; up to 18,028 european ancestry individuals EFO_0003884 N/A Associate Kidney function decline traits rs12917707-T of NONHSAT140921.2 is significantly associated with the kidney function decline traits by using GWAS analysis in up to 45,530 european ancestry individuals; up to 18,028 european ancestry individuals(p-value = 4E-6 ;OR = 0.22). 0.4 Genome-wide association study of kidney function decline in individuals of European descent. genome-wide association analysis NONHSAT140921.2 lncRNA Chronic kidney disease 0.599 CGAGGCAGGT(G > T)AGCCTTACAC chr16: 20356368 0.9018,0.09824 0.87375764525993883,0.12624235474006116 Region score:0.43; TSS score:0.46; Unmatched score:0.51; Average GERP:0.4125980198019801 GeneName:PDILT; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000169340; TranscriptID:ENST00000302451; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:UMOD; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000169344; TranscriptID:ENST00000396134; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001874 19430482 NONHSAT140921.2 rs12917707 G N/A 2,388 european ancestry cases//17,489 european ancestry controls; 1,932 cases//19,534 controls EFO_0003884 N/A Associate Renal function and chronic kidney disease rs12917707-G of NONHSAT140921.2 is significantly associated with the renal function and chronic kidney disease by using GWAS analysis in 2,388 european ancestry cases//17,489 european ancestry controls; 1,932 cases//19,534 controls(p-value = 2E-12 ;OR = 1.25). 0.4 Multiple loci associated with indices of renal function and chronic kidney disease. genome-wide association analysis NONHSAT140921.2 lncRNA Chronic kidney disease 0.599 CGAGGCAGGT(G > T)AGCCTTACAC chr16: 20356368 0.9018,0.09824 0.87375764525993883,0.12624235474006116 Region score:0.43; TSS score:0.46; Unmatched score:0.51; Average GERP:0.4125980198019801 GeneName:PDILT; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000169340; TranscriptID:ENST00000302451; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:UMOD; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000169344; TranscriptID:ENST00000396134; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001874 26831199 NONHSAT140921.2 rs12917707 T N/A 11,522 european ancestry individuals; 4,955 european ancestry individuals EFO_0003884 N/A Associate Glomerular filtration rate in diabetics (creatinine) rs12917707-T of NONHSAT140921.2 is significantly associated with the glomerular filtration rate in diabetics (creatinine) by using GWAS analysis in 11,522 european ancestry individuals; 4,955 european ancestry individuals(p-value = 2E-8 ;OR = 0.0266). 0.4 Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function. genome-wide association analysis NONHSAT140921.2 lncRNA Chronic kidney disease 0.599 CGAGGCAGGT(G > T)AGCCTTACAC chr16: 20356368 0.9018,0.09824 0.87375764525993883,0.12624235474006116 Region score:0.43; TSS score:0.46; Unmatched score:0.51; Average GERP:0.4125980198019801 GeneName:PDILT; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000169340; TranscriptID:ENST00000302451; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:UMOD; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000169344; TranscriptID:ENST00000396134; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001875 26941397 GAS8-AS1 rs55742939 C Dominant 402 tumor-normal pairs (Discovery: 91 pairs via exome sequencing; validation: 311 pairs via Sanger sequencing) EFO_0000641 N/A increasing risk papillary thyroid carcinoma rs55742939-C of GAS8-AS1 and its dysfunction is significantly associated with the increasing risk of Papillary thyroid carcinoma by using case-control analysis in 402 tumor-normal pairs (Discovery: 91 pairs via exome sequencing; validation: 311 pairs via Sanger sequencing) 0.9 Whole exome sequencing identifies lncRNA GAS8-AS1 and LPAR4 as novel papillary thyroid carcinoma driver alternations. case-control analysis GAS8-AS1 lncRNA Papillary thyroid carcinoma 0.593 GGGGCAGGCT(A > G)TGGGGCAGCC chr16: 90029188 0.5373,0.4627 0.69532842762487257,0.30467157237512742 Region score:0.28; TSS score:0.07; Unmatched score:0.42; Average GERP:-1.0368153846153851 GeneName:GAS8-AS1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000221819; TranscriptID:ENST00000408886; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GAS8; CADD-Score:2; Consquence:intron; GeneID:ENSG00000141013; TranscriptID:ENST00000268699; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001876 23263486 NONHSAT209135.1 rs729761 T N/A 49,825 european ancestry males//60,522 european ancestry females; up to 32,813 european ancestry individuals EFO_0004531 N/A Associate Urate levels rs729761-T of NONHSAT209135.1 is significantly associated with the urate levels by using GWAS analysis in 49,825 european ancestry males//60,522 european ancestry females; up to 32,813 european ancestry individuals(p-value = 8E-16 ;OR = 0.047). 0.4 Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. genome-wide association analysis NONHSAT209135.1 lncRNA Urate measurement 0.33 ATACTGACAA(T > A,G)GAACAGTTTT chr6: 43836834 0.1681,.,0.8319 0.20619903160040774,0.00307403160040774,0.79072693679918450 Region score:0.48; TSS score:0.49; Unmatched score:0.38; Average GERP:0.660209900990099 GeneName:AL157371.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000283573; TranscriptID:ENST00000637813; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000197198; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001877 20125193 NONHSAT188791.1 rs6017291 ? N/A up to 813 european ancestry individuals//up to 167 east asian ancestry individuals//up to 7 hispanic/latin american individuals//up to 74 south asian ancestry individuals EFO_0003926 N/A Associate Cognitive performance rs6017291-? of NONHSAT188791.1 is significantly associated with the cognitive performance by using GWAS analysis in up to 813 european ancestry individuals//up to 167 east asian ancestry individuals//up to 7 hispanic/latin american individuals//up to 74 south asian ancestry individuals(p-value = 6E-6 ;OR = ?). 0.4 Common genetic variation and performance on standardized cognitive tests. genome-wide association analysis NONHSAT188791.1 lncRNA Neuropsychological test 0.33 TTTCTTTTTT(A > G,T)ACCTTTATTT chr20: 44225494 0.7995,0.2005,. 0.86932976554536187,0.12842443934760448,0.00224579510703363 Region score:0.37; TSS score:0.19; Unmatched score:0.27; Average GERP:0.1820356435643566 GeneName:OSER1-DT; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000223891; TranscriptID:ENST00000437730; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001878 28441456 NONHSAT220332.1 rs12003807 C N/A 2,187 european ancestry individuals EFO_0007858 N/A Associate Facial morphology (factor 2//vertical position of orbits relative to midface) rs12003807-C of NONHSAT220332.1 is significantly associated with the facial morphology (factor 2//vertical position of orbits relative to midface) by using GWAS analysis in 2,187 european ancestry individuals(p-value = 2E-6 ;OR = 0.5843). 0.4 Genome-wide association study of facial morphology reveals novel associations with FREM1 and PARK2. genome-wide association analysis NONHSAT220332.1 lncRNA Eye morphology measurement 0.33 AGAGCCAGGA(A > C)CGATGCTAAA chr9: 134478893 0.9445,0.05551 0.93899719673802242,0.06100280326197757 Region score:0.42; TSS score:0.39; Unmatched score:0.12; Average GERP:-0.9501671287128712 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001879 27680694 NONHSAT172051.1 rs7402982 A N/A 133,903 european ancestry individuals//6,635 african american individuals//420 turkish ancestry individuals//365 moroccan ancestry individuals//395 surinamese ancestry individuals//840 chinese ancestry individuals.; 9,799 european ancestry individuals//1,449 filipino ancestry individuals. EFO_0004344 N/A Associate Birth weight rs7402982-A of NONHSAT172051.1 is significantly associated with the birth weight by using GWAS analysis in 133,903 european ancestry individuals//6,635 african american individuals//420 turkish ancestry individuals//365 moroccan ancestry individuals//395 surinamese ancestry individuals//840 chinese ancestry individuals.; 9,799 european ancestry individuals//1,449 filipino ancestry individuals.(p-value = 1E-9 ;OR = 0.0231). 0.4 Genome-wide associations for birth weight and correlations with adult disease. genome-wide association analysis NONHSAT172051.1 lncRNA Birth weight 0.33 CGCCCCTTCC(A > G)TGCGCAAGAG chr15: 98650040 0.389,0.611 0.37044469928644240,0.62955530071355759 Region score:0.13; TSS score:0.41; Unmatched score:0.83; Average GERP:-0.5535227722772279 GeneName:IGF1R; CADD-Score:2; Consquence:intron; GeneID:ENSG00000140443; TranscriptID:ENST00000650285; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:IRAIN; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000259424; TranscriptID:ENST00000560221; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000081696; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001880 27043157 NONHSAT191951.1 rs5748871 ? N/A up to 1,026 child monozygotic twin pairs EFO_0007803 N/A Associate Discordance in emotional problems in monozygotic twins rs5748871-? of NONHSAT191951.1 is significantly associated with the discordance in emotional problems in monozygotic twins by using GWAS analysis in up to 1,026 child monozygotic twin pairs(p-value = 2E-6 ;OR = 0.1915). 0.4 A Genome-Wide Test of the Differential Susceptibility Hypothesis Reveals a Genetic Predictor of Differential Response to Psychological Treatments for Child Anxiety Disorders. genome-wide association analysis NONHSAT191951.1 lncRNA Emotional symptom measurement 0.33 TTGCAGCGTG(A > G)TAACACCATG chr22: 17122587 0.5517,0.4483 0.50140163098878695,0.49859836901121304 Region score:0.13; TSS score:0.42; Unmatched score:0.74; Average GERP:-1.2816118811881192 GeneName:LINC01664; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000235478; TranscriptID:ENST00000441544; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TMEM121B; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000183307; TranscriptID:ENST00000331437; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001881 25826619 NONHSAT161267.1 rs11263654 C N/A 2,215 western european ancestry cases//8,566 western european ancestry controls; 2,844 european ancestry cases//7,270 european ancestry controls EFO_0000681 N/A Associate Renal cell carcinoma rs11263654-C of NONHSAT161267.1 is significantly associated with the renal cell carcinoma by using GWAS analysis in 2,215 western european ancestry cases//8,566 western european ancestry controls; 2,844 european ancestry cases//7,270 european ancestry controls(p-value = 1E-9 ;OR = 1.53). 0.4 Common variation at 1q24.1 (ALDH9A1) is a potential risk factor for renal cancer. genome-wide association analysis NONHSAT161267.1 lncRNA Renal cell cancer 0.33 GCACCTGCGG(C > T)GATTAATTAA chr11: 69423355 0.9111,0.08886 0.89458301478083588,0.10541698521916411 Region score:0.51; TSS score:0.36; Unmatched score:0.4; Average GERP:-0.8044326732673266 GeneName:AP000439.3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000255980; TranscriptID:ENST00000545202; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001882 28112199 NONHSAT185338.1 rs12711846 G N/A 1,842 european ancestry chronic lymphocytic leukemia cases//1,465 european ancestry hodgkin lymphoma cases//3,790 european ancestry multiple myeloma cases//7,324 european ancestry controls EFO_0000095 N/A Associate B-cell malignancies (chronic lymphocytic leukemia//hodgkin lymphoma or multiple myeloma) (pleiotropy) rs12711846-G of NONHSAT185338.1 is significantly associated with the b-cell malignancies (chronic lymphocytic leukemia//hodgkin lymphoma or multiple myeloma) (pleiotropy) by using GWAS analysis in 1,842 european ancestry chronic lymphocytic leukemia cases//1,465 european ancestry hodgkin lymphoma cases//3,790 european ancestry multiple myeloma cases//7,324 european ancestry controls(p-value = 3E-14 ;OR = ?). 0.4 Genome-wide association analysis of chronic lymphocytic leukaemia, Hodgkin lymphoma and multiple myeloma identifies pleiotropic risk loci. genome-wide association analysis NONHSAT185338.1 lncRNA Chronic lymphocytic leukemia 0.33 AACTCTTGTT(A > G)TCTTTGAAAC chr2: 111098716 0.7656,0.2344 0.74310333843017329,0.25689666156982670 Region score:0.16; TSS score:0.23; Unmatched score:0.3; Average GERP:-0.35023831683168344 GeneName:ACOXL-AS1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000204581; TranscriptID:ENST00000376593; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ACOXL; CADD-Score:2; Consquence:intron; GeneID:ENSG00000153093; TranscriptID:ENST00000439055; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR4435-2HG; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000172965; TranscriptID:ENST00000645030; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001883 20445134 NONHSAT161599.1 rs563519 ? N/A 20,926 european ancestry individuals//2,895 african ancestry individuals EFO_0003144 N/A Associate Heart failure rs563519-? of NONHSAT161599.1 is significantly associated with the heart failure by using GWAS analysis in 20,926 european ancestry individuals//2,895 african ancestry individuals(p-value = 3E-6 ;OR = 1.45). 0.4 Association of genome-wide variation with the risk of incident heart failure in adults of European and African ancestry: a prospective meta-analysis from the cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium. genome-wide association analysis NONHSAT161599.1 lncRNA Heart failure 0.33 ATAGAGTGGA(T > C)TTTCTGGGAG chr11: 126158822 0.492,0.508 0.59942819826707441,0.40057180173292558 Region score:0.34; TSS score:0.77; Unmatched score:0.67; Average GERP:-0.5147415841584159 GeneName:AP001893.3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000254833; TranscriptID:ENST00000532357; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000445823; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001884 27863252 NONHSAT130003.2 rs369552432 A N/A 173,039 european ancestry individuals EFO_0004348 N/A Associate Hematocrit rs369552432-A of NONHSAT130003.2 is significantly associated with the hematocrit by using GWAS analysis in 173,039 european ancestry individuals(p-value = 1E-10 ;OR = 0.02465845). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT130003.2 lncRNA Hematocrit 0.33 TGCGGAGCGA(ACGGCGGCGG > A)CGGCGGCGGC chr9: 2622146 0.6937,0.3063 0.60953427624872579,0.39046572375127420 N/A GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000874061; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000874064; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:VLDLR-AS1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000236404; TranscriptID:ENST00000648733; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:VLDLR; CADD-Score:3; Consquence:5_prime_UTR; GeneID:ENSG00000147852; TranscriptID:ENST00000382100; AnnoType:5PRIME_UTR; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001885 26198764 NONHSAT124866.2 rs2945232 C N/A 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls EFO_0000692 N/A Associate Schizophrenia rs2945232-C of NONHSAT124866.2 is significantly associated with the schizophrenia by using GWAS analysis in 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls(p-value = 2E-8 ;OR = 1.0638298). 0.4 Genome-wide association study of schizophrenia in Ashkenazi Jews. genome-wide association analysis NONHSAT124866.2 lncRNA Schizophrenia 0.33 CCATGAAGGC(T > C)GACCGCTCCA chr8: 8240516 0.4533,0.5467 0.52393125637104994,0.47606874362895005 Region score:0.54; TSS score:0.53; Unmatched score:0.72; Average GERP:-0.07039801980198011 GeneName:ALG1L13P; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253981; TranscriptID:ENST00000523017; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:FAM86B3P; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000173295; TranscriptID:ENST00000310542; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001886 23432519 NONHSAT035258.2 rs9324268 A N/A 263 european ancestry individuals; EFO_0005199 N/A Associate Renal transplant outcome rs9324268-A of NONHSAT035258.2 is significantly associated with the renal transplant outcome by using GWAS analysis in 263 european ancestry individuals; (p-value = 2E-6 ;OR = 0.1738). 0.4 A genome-wide association study of recipient genotype and medium-term kidney allograft function. genome-wide association analysis NONHSAT035258.2 lncRNA Renal transplant outcome measurement 0.33 GAAGTGCTGC(C > G,T)CCATGAGAAG chr13: 112182341 0.6657,.,0.3343 0.73180268858307849,0.00002389143730886,0.26817341997961264 Region score:0.25; TSS score:0.25; Unmatched score:0.19; Average GERP:-0.8636831683168316 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001887 24630744 miRNA-146a rs2910164 C N/A 301 male patients with AUDs and 156 sex-matched healthy volunteers EFO_0003829 N/A increasing risk alcohol dependence rs2910164-C of hsa-mir-146a and its dysfunction is significantly associated with the increasing risk of Alcohol dependence by using case-control analysis in 301 male patients with AUDs and 156 sex-matched healthy volunteers 0.4 A genetic variant in the microRNA-146a gene is associated with susceptibility to alcohol use disorders. case-control analysis hsa-mir-146a miRNA Alcohol dependence 0.33 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 0 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001888 27863252 NONHSAT208858.1 rs6917586 A N/A 172,435 european ancestry individuals EFO_0004308 N/A Associate White blood cell count rs6917586-A of NONHSAT208858.1 is significantly associated with the white blood cell count by using GWAS analysis in 172,435 european ancestry individuals(p-value = 1E-12 ;OR = 0.02659973). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT208858.1 lncRNA Leukocyte count 0.33 AGCACGCAAC(G > A)TTTATTACCA chr6: 21381296 0.5769,0.4231 0.63512996941896024,0.36487003058103975 Region score:0.3; TSS score:0.22; Unmatched score:0.11; Average GERP:-0.6859223762376232 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001889 23648065 NONHSAT210951.1 rs9386485 T N/A 371 japanese ancestry cases//825 japanese ancestry controls DOID_1227 all antimetabolite drugs Associate Adverse response to chemotherapy (neutropenia/leucopenia) rs9386485-T of NONHSAT210951.1 is significantly associated with the adverse response to chemotherapy (neutropenia/leucopenia) by using GWAS analysis in 371 japanese ancestry cases//825 japanese ancestry controls(p-value = 3E-6 ;OR = 1.524). 0.4 Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan. genome-wide association analysis NONHSAT210951.1 lncRNA Neutropenia 0.33 AAGTATTTGC(C > T)GTATTAATTA chr6: 105881180 0.5116,0.4884 0.49750732670744138,0.50249267329255861 Region score:0.26; TSS score:0.22; Unmatched score:0.08; Average GERP:-0.39689504950495047 GeneName:AL591518.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000284999; TranscriptID:ENST00000642235; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001890 24888363 MIR137 rs1198588 A N/a 345 bd patients, 426 sz patients and 1376 healthy individuals, all unrelated, in v?sterbotten region of northern sweden EFO_0000289 N/A Decreasing risk Bipolar disorder rs1198588-A of MIR137 and its dysfunction is significantly associated with the decreasing risk of bipolar disorder by using case-control analysis in 345 BD patients, 426 SZ patients and 1376 healthy individuals, all unrelated, in V?sterbotten region of Northern Sweden. 0.4 MIR137 variants identified in psychiatric patients affect synaptogenesis and neuronal transmission gene sets. case-control analysis hsa-mir-137 miRNA Bipolar disorder 0.33 TGGGCTACTA(A > T)TCTCATTCAG chr1: 98087276 0.2033,0.7967 0.21046763506625891,0.78953236493374108 Region score:0.34; TSS score:0.31; Unmatched score:0.16; Average GERP:-0.21871188118811882 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001891 27863252 NONHSAT183488.1 rs715 C N/A 172,378 european ancestry individuals EFO_0007991 N/A Associate Eosinophil percentage of white cells rs715-C of NONHSAT183488.1 is significantly associated with the eosinophil percentage of white cells by using GWAS analysis in 172,378 european ancestry individuals(p-value = 4E-10 ;OR = 0.02420978). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT183488.1 lncRNA Eosinophil percentage of leukocytes 0.33 TTCTGAACTC(T > C)TTCTATACTT chr2: 210678331 0.7638,0.2362 0.72770928899082568,0.27229071100917431 Region score:0.52; TSS score:0.86; Unmatched score:0.84; Average GERP:0.6805089108910892 GeneName:CPS1; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000021826; TranscriptID:ENST00000430249; AnnoType:3PRIME_UTR; mirSVR-Score:-1.1081; mirSVR-E:-13.72 | NCRV0000001892 20921969 NONHSAT107086.2 rs4959235 ? N/A 738 european//african american//hispanic//and other ancestry schizophrenia cases GO_0097335 N/A Associate Antipsychotic drug-induced qtc interval prolongation rs4959235-? of NONHSAT107086.2 is significantly associated with the antipsychotic drug-induced qtc interval prolongation by using GWAS analysis in 738 european//african american//hispanic//and other ancestry schizophrenia cases(p-value = 2E-7 ;OR = ?). 0.4 Genome-wide association study of antipsychotic-induced QTc interval prolongation. genome-wide association analysis NONHSAT107086.2 lncRNA Response to quetiapine 0.33 TTTAGTGCAA(T > C)ACAGAGACGT chr6: 3359103 0.03834,0.9617 0.04582377675840978,0.95417622324159021 Region score:0.35; TSS score:0.17; Unmatched score:0.12; Average GERP:-0.8718267326732674 GeneName:SLC22A23; CADD-Score:2; Consquence:intron; GeneID:ENSG00000137266; TranscriptID:ENST00000406686; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001893 29221444 NONHSAT158458.1 rs2900783 ? N/A 345 african american cases//346 african american controls; 137 african american cases//68 african american controls EFO_0004723 N/A Associate Coronary artery calcified atherosclerotic plaque (130 hu threshold) in type 2 diabetes rs2900783-? of NONHSAT158458.1 is significantly associated with the coronary artery calcified atherosclerotic plaque (130 hu threshold) in type 2 diabetes by using GWAS analysis in 345 african american cases//346 african american controls; 137 african american cases//68 african american controls(p-value = 2E-6 ;OR = 0.186). 0.4 Genome-wide association study of coronary artery calcified atherosclerotic plaque in African Americans with type 2 diabetes. genome-wide association analysis NONHSAT158458.1 lncRNA Coronary artery calcification 0.33 TTTATGTGCA(G > C)TGGAAAAAAA chr10: 107749780 0.1392,0.8608 0.09136085626911314,0.90863914373088685 Region score:0.26; TSS score:0.06; Unmatched score:0.01; Average GERP:-0.025879207920792128 GeneName:LINC01435; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000229981; TranscriptID:ENST00000630847; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001894 27863252 NONHSAT197521.1 rs4328821 G N/A 170,672 european ancestry individuals EFO_0007994 N/A Associate Neutrophil percentage of granulocytes rs4328821-G of NONHSAT197521.1 is significantly associated with the neutrophil percentage of granulocytes by using GWAS analysis in 170,672 european ancestry individuals(p-value = 2E-184 ;OR = 0.1665542). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT197521.1 lncRNA Neutrophil percentage of granulocytes 0.33 CGTGCACCCA(A > G)TTTTAGAGAT chr3: 128597592 0.8073,0.1927 0.85647617227319062,0.14352382772680937 Region score:0.21; TSS score:0.16; Unmatched score:0.03; Average GERP:0.03414851485148518 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001895 27989323 NONHSAT176912.1 rs11263779 G N/A 8,243 finnish ancestry individuals EFO_0005140 N/A Associate Macrophage inflammatory protein 1b levels rs11263779-G of NONHSAT176912.1 is significantly associated with the macrophage inflammatory protein 1b levels by using GWAS analysis in 8,243 finnish ancestry individuals(p-value = 5E-16 ;OR = 0.174). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. genome-wide association analysis NONHSAT176912.1 lncRNA Autoimmune disease 0.33 CTTGGCTCAC(A > G)CAACCTGCGC chr17: 36627751 0.2598,0.7402 0.76495603975535168,0.23504396024464831 Region score:0.34; TSS score:0.23; Unmatched score:0.11; Average GERP:-0.10060396039603962 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001896 26152337 hsa-mir-595 rs4909237 T N/A 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A no significance for risk hepatocellular carcinoma rs4909237-T of hsa-mir-595 and its dysfunction is not significantly associated with Hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors -0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. case-control analysis hsa-mir-595 miRNA Hepatocellular carcinoma -0.33 TGCAGGCTTC(C > T)GTGCAGGAGC chr7: 158532811 0.8395,0.1605 0.85748757645259938,0.14251242354740061 Region score:0.43; TSS score:0.16; Unmatched score:0.51; Average GERP:-0.5207207920792076 GeneName:AC078942.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000225365; TranscriptID:ENST00000448698; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR595; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207637; TranscriptID:ENST00000384905; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000845418; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PTPRN2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000155093; TranscriptID:ENST00000389418; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001897 25972035 NONHSAT053435.2 rs11078895 A N/A 4,558 korean ancestry individuals; 4,093 korean ancestry individuals EFO_0004838 N/A Associate Calcium levels rs11078895-A of NONHSAT053435.2 is significantly associated with the calcium levels by using GWAS analysis in 4,558 korean ancestry individuals; 4,093 korean ancestry individuals(p-value = 5E-6 ;OR = 0.00201). 0.4 Association of common variants in the calcium-sensing receptor gene with serum calcium levels in East Asians. genome-wide association analysis NONHSAT053435.2 lncRNA Calcium measurement 0.33 GTTCCTCACC(A > C,G)CCATTCGCTC chr17: 39244798 0.2202,.,0.7798 0.23099834352701325,0.00006371049949031,0.76893794597349643 Region score:0.46; TSS score:0.39; Unmatched score:0.57; Average GERP:0.5241544554455446 GeneName:AC015910.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000265460; TranscriptID:ENST00000579400; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000283339; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000555072; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001898 28334899 NONHSAT173242.1 rs1122531 T N/A 22,814 east asian ancestry individuals; 57,490 east asian ancestry individuals EFO_0000319 N/A Associate Total cholesterol levels rs1122531-T of NONHSAT173242.1 is significantly associated with the total cholesterol levels by using GWAS analysis in 22,814 east asian ancestry individuals; 57,490 east asian ancestry individuals(p-value = 1E-13 ;OR = 0.081). 0.4 Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels. genome-wide association analysis NONHSAT173242.1 lncRNA Cardiovascular disease 0.33 GATGTGCCCC(C > T)TACTAATACC chr16: 71978873 0.2448,0.7552 0.24759492864424057,0.75240507135575942 Region score:0.21; TSS score:0.14; Unmatched score:0.04; Average GERP:-0.5486138613861384 GeneName:PKD1L3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000277481; TranscriptID:ENST00000620267; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001899 28090653 NONHSAT183890.1 rs113941845 A N/A up to 488 european ancestry cases//up to 111 african american cases//up to 60 hispanic cases//up to 56 other ancestry cases EFO_0000220 N/A Associate Alanine aminotransferase (alt) levels after remission induction therapy in actute lymphoblastic leukemia (all) rs113941845-A of NONHSAT183890.1 is significantly associated with the alanine aminotransferase (alt) levels after remission induction therapy in actute lymphoblastic leukemia (all) by using GWAS analysis in up to 488 european ancestry cases//up to 111 african american cases//up to 60 hispanic cases//up to 56 other ancestry cases(p-value = 4E-6 ;OR = 1.24). 0.4 Genome-Wide Study Links PNPLA3 Variant With Elevated Hepatic Transaminase After Acute Lymphoblastic Leukemia Therapy. genome-wide association analysis NONHSAT183890.1 lncRNA Acute lymphoblastic leukemia 0.33 CCAACCTCAG(C > A)CTCCTGAGTA chr2: 238593191 0.8369,0.1631 0.81962761213047910,0.18037238786952089 Region score:0.19; TSS score:0.13; Unmatched score:0.01; Average GERP:0.008851485148514844 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001900 26766742 NONHSAT190453.1 rs964293 ? N/A 554 european ancestry postmenopausal cases//729 european ancestry postmenopausal controls EFO_0005842 oestrogen-progestogen hormone therapy interaction Associate Colorectal cancer (oestrogen-progestogen hormone therapy interaction) rs964293-? of NONHSAT190453.1 is significantly associated with the colorectal cancer (oestrogen-progestogen hormone therapy interaction) by using GWAS analysis in 554 european ancestry postmenopausal cases//729 european ancestry postmenopausal controls(p-value = 5E-9 ;OR = 1.6393442). 0.4 CYP24A1 variant modifies the association between use of oestrogen plus progestogen therapy and colorectal cancer risk. genome-wide association analysis NONHSAT190453.1 lncRNA Colorectal cancer 0.33 CGGAGTGTTC(C > A,T)TGATGGTAGT chr20: 54200178 0.5064,0.4936,. 0.54548929663608562,0.44620444699286442,0.00830625637104994 Region score:0.23; TSS score:0.3; Unmatched score:0.11; Average GERP:-0.8173673267326729 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000298962; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000654970; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001901 26222057 NONHSAT215355.1 rs2936519 A N/A 256 cases treated with capox-b plus cetuximab//264 cases treated with capox-b EFO_1001480 N/A Associate Progression free survival in metastatic colorectal cancer (capox-b vs capox-b plus cetuximab) rs2936519-A of NONHSAT215355.1 is significantly associated with the progression free survival in metastatic colorectal cancer (capox-b vs capox-b plus cetuximab) by using GWAS analysis in 256 cases treated with capox-b plus cetuximab//264 cases treated with capox-b(p-value = 2E-7 ;OR = 1.8867927). 0.4 Genome Wide Association Study for Predictors of Progression Free Survival in Patients on Capecitabine, Oxaliplatin, Bevacizumab and Cetuximab in First-Line Therapy of Metastatic Colorectal Cancer. genome-wide association analysis NONHSAT215355.1 lncRNA Metastatic colorectal cancer 0.33 CAGGTTGATC(G > A)AAGCTGGCAG chr8: 6781719 0.7326,0.2674 0.78737417176350662,0.21262582823649337 Region score:0.18; TSS score:0.24; Unmatched score:0.13; Average GERP:-0.8013326732673266 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001902 28441456 NONHSAT002070.2 rs79719407 G N/A 2,187 european ancestry individuals EFO_0007841 N/A Associate Facial morphology (factor 16) rs79719407-G of NONHSAT002070.2 is significantly associated with the facial morphology (factor 16) by using GWAS analysis in 2,187 european ancestry individuals(p-value = 4E-6 ;OR = 0.4738). 0.4 Genome-wide association study of facial morphology reveals novel associations with FREM1 and PARK2. genome-wide association analysis NONHSAT002070.2 lncRNA Facial morphology measurement 0.33 TCCCTCACCC(C > G)CTTCTTTCCC chr1: 30861368 0.9954,0.004593 0.98762423547400611,0.01237576452599388 Region score:0.19; TSS score:0.31; Unmatched score:0.23; Average GERP:-0.6212970297029706 GeneName:AL445235.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000235143; TranscriptID:ENST00000431202; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001903 25866641 NONHSAT208684.1 rs1573948 ? N/A 431 european ancestry cases EFO_0005842 N/A Associate Survival in microsatellite instability low/stable colorectal cancer rs1573948-? of NONHSAT208684.1 is significantly associated with the survival in microsatellite instability low/stable colorectal cancer by using GWAS analysis in 431 european ancestry cases(p-value = 5E-6 ;OR = 1.93). 0.4 A genome wide association study on Newfoundland colorectal cancer patients' survival outcomes. genome-wide association analysis NONHSAT208684.1 lncRNA Colorectal cancer 0.33 ATAGACTAAA(T > C)GGTCCTGGAA chr6: 6786192 0.9012,0.09884 0.91071769877675840,0.08928230122324159 Region score:0.28; TSS score:0.21; Unmatched score:0.11; Average GERP:0.16519891089108907 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000782153; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001904 23563607 NONHSAT171774.1 rs4337252 C N/A 8,097 european ancestry tall individuals//8,099 european ancestry short individuals; 4,872 european ancestry tall individuals//4,831 european ancestry short individuals EFO_0004339 N/A Associate Height rs4337252-C of NONHSAT171774.1 is significantly associated with the height by using GWAS analysis in 8,097 european ancestry tall individuals//8,099 european ancestry short individuals; 4,872 european ancestry tall individuals//4,831 european ancestry short individuals(p-value = 7E-9 ;OR = 1.14). 0.4 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. genome-wide association analysis NONHSAT171774.1 lncRNA Body height 0.33 ACCTGGGGTG(G > C)AGAGTGGCCC chr15: 73934424 0.4273,0.5727 0.47618023700305810,0.52381976299694189 Region score:0.23; TSS score:0.19; Unmatched score:0.28; Average GERP:-0.43123069306930706 GeneName:LOXL1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000129038; TranscriptID:ENST00000261921; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000521113; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001905 28087736 NONHSAT108734.2 rs1265158 ? N/A 399 european ancestry cases//1,318 european ancestry controls//666 european ancestry trios//795 asian trios; 224 european ancestry cases//921 european ancestry controls//152 mayan cases//323 mayan controls//198 middle eastern cases//391 middle eastern controls EFO_0003959 N/A Associate Nonsyndromic cleft lip with or without cleft palate rs1265158-? of NONHSAT108734.2 is significantly associated with the nonsyndromic cleft lip with or without cleft palate by using GWAS analysis in 399 european ancestry cases//1,318 european ancestry controls//666 european ancestry trios//795 asian trios; 224 european ancestry cases//921 european ancestry controls//152 mayan cases//323 mayan controls//198 middle eastern cases//391 middle eastern controls(p-value = 3E-6 ;OR = ?). 0.4 Imputation of orofacial clefting data identifies novel risk loci and sheds light on the genetic background of cleft lip +/- cleft palate and cleft palate only. genome-wide association analysis NONHSAT108734.2 lncRNA Cleft lip 0.33 AGTGGGGTTG(C > G)AGCTGTGTTC chr6: 31172964 0.6152,0.3848 0.61224993628950050,0.38775006371049949 Region score:0.22; TSS score:0.4; Unmatched score:0.71; Average GERP:-0.3600722772277226 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000787508; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:POU5F1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000204531; TranscriptID:ENST00000259915; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PSORS1C3; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000204528; TranscriptID:ENST00000412143; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001906 28177126 SNORD118 rs750457525 A Dominant 8 unrelated families with lcc Orphanet_313838 N/A Increasing risk Leukoencephalopathy with brain calcifications and cysts rs750457525-A of SNORD118 and its dysfunction is significantly associated with the increasing risk of Leukoencephalopathy with brain calcifications and cysts by using Pedigree analysis in 8 unrelated families with LCC. 0.4 Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts. Pedigree analysis SNORD118 snoRNA Coats plus syndrome 0.33 GCATCTCCAA(T > C)CATCATGTTC chr17: 8173528 N/A 0.99996814475025484,0.00003185524974515 N/A GeneName:AC129492.4; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000266824; TranscriptID:ENST00000581248; AnnoType:UPSTREAM; mirSVR-Score:-1.0087; mirSVR-E:-12.85 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000282324; AnnoType:REGULATORY; mirSVR-Score:-1.0087; mirSVR-E:-12.85 | GeneName:SNORD118; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000200463; TranscriptID:ENST00000363593; AnnoType:NONCODING_CHANGE; mirSVR-Score:-1.0087; mirSVR-E:-12.85 | GeneName:TMEM107; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000179029; TranscriptID:ENST00000316425; AnnoType:DOWNSTREAM; mirSVR-Score:-1.0087; mirSVR-E:-12.85 | NCRV0000001907 26301688 NONHSAT142417.2 rs117372389 T N/A 97 european ancestry thyroiditis cases//107 european ancestry ankylosing spondylitis cases//100 european ancestry psoriasis cases//173 european ancestry celiac disease cases//254 european ancestry systemic lupus erythematosus cases//308 european ancestry common variable inmunodeficiency cases//865 european ancestry ulcerative colitis cases//1,086 european ancestry type 1 diabetes cases//1,123 european ancestry juvenile idiopathic arthritis cases//1,922 european ancestry crohn's disease cases//10,718 european ancestry controls EFO_0000540 N/A Associate Pediatric autoimmune diseases rs117372389-T of NONHSAT142417.2 is significantly associated with the pediatric autoimmune diseases by using GWAS analysis in 97 european ancestry thyroiditis cases//107 european ancestry ankylosing spondylitis cases//100 european ancestry psoriasis cases//173 european ancestry celiac disease cases//254 european ancestry systemic lupus erythematosus cases//308 european ancestry common variable inmunodeficiency cases//865 european ancestry ulcerative colitis cases//1,086 european ancestry type 1 diabetes cases//1,123 european ancestry juvenile idiopathic arthritis cases//1,922 european ancestry crohn's disease cases//10,718 european ancestry controls(p-value = 8E-11 ;OR = ?). 0.4 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases. genome-wide association analysis NONHSAT142417.2 lncRNA Immune system disease 0.33 ACTTGGCCCG(G > T)CTTCCAGAGA chr16: 50634166 0.9952,0.004792 0.98801446228338430,0.01198553771661569 Region score:0.48; TSS score:0.73; Unmatched score:0.71; Average GERP:1.854521782178218 GeneName:NKD1; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000140807; TranscriptID:ENST00000268459; AnnoType:3PRIME_UTR; mirSVR-Score:-0.3810; mirSVR-E:-19.02 | NCRV0000001908 28298293 NONHSAT026207.2 rs12579775 A N/A 3,521 chinese ancestry individuals//european ancestry individuals (see wu et al 2013) EFO_0006810 N/A Associate Oleic acid (18:1n-9) levels rs12579775-A of NONHSAT026207.2 is significantly associated with the oleic acid (18:1n-9) levels by using GWAS analysis in 3,521 chinese ancestry individuals//european ancestry individuals (see wu et al 2013)(p-value = 2E-8 ;OR = 0.539). 0.4 Discovery and fine-mapping of loci associated with MUFAs through trans-ethnic meta-analysis in Chinese and European populations. genome-wide association analysis NONHSAT026207.2 lncRNA Oleic acid measurement 0.33 AAAGTATCCA(G > A)TGGTGTAAAA chr12: 6976009 0.8119,0.1881 0.81367864424057084,0.18632135575942915 Region score:0.41; TSS score:0.24; Unmatched score:0.4; Average GERP:-0.1510027722772277 GeneName:EMG1; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000126749; TranscriptID:ENST00000599672; AnnoType:3PRIME_UTR; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LPCAT3; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000111684; TranscriptID:ENST00000261407; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000449677; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001909 28608620 NONHSAT214348.1 rs10499395 G N/A 4,097 european ancestry individuals EFO_0008329 N/A Associate Facial emotion recognition (angry faces) rs10499395-G of NONHSAT214348.1 is significantly associated with the facial emotion recognition (angry faces) by using GWAS analysis in 4,097 european ancestry individuals(p-value = 2E-6 ;OR = 4.76). 0.4 Genome-wide association study of facial emotion recognition in children and association with polygenic risk for mental health disorders. genome-wide association analysis NONHSAT214348.1 lncRNA Facial emotion recognition measurement 0.33 CTGTTTTTAT(T > G)GTTTTCACCT chr7: 11875617 0.8986,0.1014 0.89252835117227319,0.10747164882772680 Region score:0.47; TSS score:0.24; Unmatched score:0.06; Average GERP:1.0771386138613863 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001910 26973201 miR-27a rs895819 C N/a 575 patients with lung cancer and 608 healthy controls EFO_0001071 N/A No significance for risk Lung cancer rs895819-C of miR-27a and its dysfunction is not significantly associated with lung cancer by using case-control analysis in 575 patients with lung cancer and 608 healthy controls . -0.4 Association between polymorphisms in pre-miRNA genes and risk of lung cancer in a Chinese non-smoking female population. case-control analysis hsa-mir-27a miRNA Lung cancer -0.33 CACGACTTGG(T > C)GTGGACCCTG chr19: 13836478 0.6362,0.3638 0.63091711264016309,0.36908288735983690 Region score:0.57; TSS score:0.41; Unmatched score:0.75; Average GERP:2.158386138613861 GeneName:AC020916.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000267519; TranscriptID:ENST00000587762; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR23A; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207980; TranscriptID:ENST00000385245; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR24-2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284387; TranscriptID:ENST00000386972; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR27A; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207808; TranscriptID:ENST00000385073; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000107447; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ZSWIM4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000132003; TranscriptID:ENST00000254323; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001911 16251535 miR-27b rs377625161 A Dominant 75 patients with CLL and 160 control subjects EFO_0000095 N/A increasing risk chronic lymphocytic leukemia rs377625161-A of hsa-mir-27b and its dysfunction is significantly associated with the increasing risk of Chronic lymphocytic leukemia by using case-control analysis in 75 patients with CLL and 160 control subjects 0.4 A MicroRNA signature associated with prognosis and progression in chronic lymphocytic leukemia. case-control analysis hsa-mir-27b miRNA Chronic lymphocytic leukemia 0.33 CGTTGCTGAC(G > A,C)GGCCGGCCGC chr9: 95085591 0.9984,0.001597,. 0.99801701070336391,0.00197502548419979,0.00000796381243628 - GeneName:C9orf3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000148120; TranscriptID:ENST00000375315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR23B; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207563; TranscriptID:ENST00000384832; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR24-1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284459; TranscriptID:ENST00000637495; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR27B; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207864; TranscriptID:ENST00000385129; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3074; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207617; TranscriptID:ENST00000384885; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000887558; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001912 23326517 NONHSAT074001.2 rs6721654 T N/A 3,772 european ancestry cases//16,033 european ancestry controls; 264 asian ancestry cases//3,926 asian ancestry controls EFO_0001365 N/A Associate Age-related macular degeneration rs6721654-T of NONHSAT074001.2 is significantly associated with the age-related macular degeneration by using GWAS analysis in 3,772 european ancestry cases//16,033 european ancestry controls; 264 asian ancestry cases//3,926 asian ancestry controls(p-value = 7E-6 ;OR = 1.26). 0.4 Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis. genome-wide association analysis NONHSAT074001.2 lncRNA Age-related macular degeneration 0.33 CGGGTTTGTG(C > A,T)GGATCTCCTC chr2: 120544335 0.7977,.,0.2023 0.85394367991845056,.,0.14605632008154943 Region score:0.4; TSS score:0.4; Unmatched score:0.71; Average GERP:-0.9920287128712866 GeneName:AC073257.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000237614; TranscriptID:ENST00000413991; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000618380; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000618381; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001913 22566634 NONHSAT192514.1 rs117294 C N/A 9,617 european ancestry individuals EFO_0004827 N/A Associate Economic and political preferences (fairness) rs117294-C of NONHSAT192514.1 is significantly associated with the economic and political preferences (fairness) by using GWAS analysis in 9,617 european ancestry individuals(p-value = 7E-6 ;OR = 0.11). 0.4 The genetic architecture of economic and political preferences. genome-wide association analysis NONHSAT192514.1 lncRNA Economic and social preference 0.33 AGAGGGCAGC(A > C,G)ATACAAGGGT chr22: 48057774 N/A 0.45647776503567787,0.53728656982670744,0.00623566513761467 Region score:0.34; TSS score:0.38; Unmatched score:0.16; Average GERP:-0.5948736633663367 GeneName:FP325330.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000278890; TranscriptID:ENST00000624219; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001914 23320911 miRNA-218 rs11134527 GG Recessive 1,584 cervical cancer cases and 1,394 cancer-free female controls EFO_0001061 N/A Decreasing risk Cervical carcinoma rs11134527 -GG of miRNA-218 and its dysfunction is significantly associated with the decreasing risk of cervical carcinoma by using case-control analysis in 1,584 cervical cancer cases and 1,394 cancer-free female controls. 0.4 A pri-miR-218 variant and risk of cervical carcinoma in Chinese women. case-control analysis hsa-mir-218-1 miRNA Cervical cancer 0.451 CCCACTGAGC(G > A)TGATTAGTAT chr5: 168768351 0.6538,0.3462 0.73466966106014271,0.26533033893985728 Region score:0.45; TSS score:0.35; Unmatched score:0.39; Average GERP:2.739732673267328 GeneName:MIR218-2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207739; TranscriptID:ENST00000385006; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SLIT3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000184347; TranscriptID:ENST00000332966; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001914 20163849 miR-218 rs11134527 G Recessive 703 cervical cancer cases and 713 cancer-free controls in chinese women EFO_0001061 N/A Decreasing risk Cervical cancer rs11134527-G of miR-218 and its dysfunction is significantly associated with the decreasing risk of cervical cancer by using case-control analysis in 703 cervical cancer cases and 713 cancer-free controls in Chinese women. 0.4 Polymorphisms involved in the miR-218-LAMB3 pathway and susceptibility of cervical cancer, a case-control study in Chinese women. case-control analysis hsa-mir-218-1 miRNA Cervical cancer 0.451 CCCACTGAGC(G > A)TGATTAGTAT chr5: 168768351 0.6538,0.3462 0.73466966106014271,0.26533033893985728 Region score:0.45; TSS score:0.35; Unmatched score:0.39; Average GERP:2.739732673267328 GeneName:MIR218-2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207739; TranscriptID:ENST00000385006; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SLIT3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000184347; TranscriptID:ENST00000332966; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001915 27863252 NONHSAT210397.1 rs5020946 T N/A 172,435 european ancestry individuals EFO_0004308 N/A Associate White blood cell count rs5020946-T of NONHSAT210397.1 is significantly associated with the white blood cell count by using GWAS analysis in 172,435 european ancestry individuals(p-value = 1E-94 ;OR = 0.07445833). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT210397.1 lncRNA Leukocyte count 0.33 CTTCCCTGAA(G > C,T)CTCTCTACTC chr6: 32482312 0.6388,.,0.3612 0.64163640417940876,0.00002389143730886,0.35833970438328236 Region score:0.27; TSS score:0.29; Unmatched score:0.28; Average GERP:-0.1042673267326733 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001916 25866641 NONHSAT157799.1 rs1555895 ? N/A 171 european ancestry cases EFO_1000657 N/A Associate Survival in rectal cancer rs1555895-? of NONHSAT157799.1 is significantly associated with the survival in rectal cancer by using GWAS analysis in 171 european ancestry cases(p-value = 3E-6 ;OR = 2.94). 0.4 A genome wide association study on Newfoundland colorectal cancer patients' survival outcomes. genome-wide association analysis NONHSAT157799.1 lncRNA Rectum cancer 0.33 CCACCGGACC(A > C,G)GCTAGGCCAG chr10: 791467 0.4972,.,0.5028 0.47740666411824668,0.00003185524974515,0.52256148063200815 Region score:0.26; TSS score:0.17; Unmatched score:0.17; Average GERP:-0.37787722772277227 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001917 28232668 NONHSAT205669.1 rs10462065 A N/A 2,033 han chinese ancestry cases//4,051 han chinese ancestry controls; 1,346 han chinese ancestry cases//4,542 han chinese ancestry controls EFO_0003959 N/A Associate Nonsyndromic cleft lip with cleft palate rs10462065-A of NONHSAT205669.1 is significantly associated with the nonsyndromic cleft lip with cleft palate by using GWAS analysis in 2,033 han chinese ancestry cases//4,051 han chinese ancestry controls; 1,346 han chinese ancestry cases//4,542 han chinese ancestry controls(p-value = 1E-8 ;OR = 1.22). 0.4 Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity. genome-wide association analysis NONHSAT205669.1 lncRNA Cleft lip 0.33 AAATTCAGGA(C > A)CACCTAAATT chr5: 44068744 0.9183,0.08167 0.91124331039755351,0.08875668960244648 Region score:0.52; TSS score:0.55; Unmatched score:0.34; Average GERP:1.9659709900990103 GeneName:RNU6-381P; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000212561; TranscriptID:ENST00000391259; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001918 24888363 MIR137 rs185304769 T N/A 345 BD patients, 426 SZ patients and 1376 healthy individuals, all unrelated, in V?sterbotten region of Northern Sweden EFO_0000289 N/A increasing risk bipolar disorder rs185304769-T of hsa-mir-137 and its dysfunction is significantly associated with the increasing risk of Bipolar disorder by using case-control analysis in 345 BD patients, 426 SZ patients and 1376 healthy individuals, all unrelated, in V?sterbotten region of Northern Sweden 0.9 MIR137 variants identified in psychiatric patients affect synaptogenesis and neuronal transmission gene sets. case-control analysis hsa-mir-137 miRNA Bipolar disorder 0.593 GAGGACCAAG(C > T)TGCCGCTGCC chr1: 98046175 0.9982,0.001797 0.99870189857288481,0.00129810142711518 Region score:0.64; TSS score:0.69; Unmatched score:0.93; Average GERP:3.461976744186046 GeneName:MIR137; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284202; TranscriptID:ENST00000385223; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR137HG; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000225206; TranscriptID:ENST00000634594; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR2682; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284247; TranscriptID:ENST00000580305; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000010436; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000366415; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001919 23362303 NONHSAT157277.1 rs12098564 A N/A 8,961 european ancestry individuals; EFO_0001645 N/A Associate Stearic acid (18:0) levels rs12098564-A of NONHSAT157277.1 is significantly associated with the stearic acid (18:0) levels by using GWAS analysis in 8,961 european ancestry individuals; (p-value = 4E-7 ;OR = 0.435). 0.4 Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium. genome-wide association analysis NONHSAT157277.1 lncRNA Coronary heart disease 0.33 TAAAGATCAG(A > G)TTGTCCTTTG chr10: 85193571 0.9185,0.08147 0.92322088430173292,0.07677911569826707 Region score:0.27; TSS score:0.32; Unmatched score:0.47; Average GERP:-0.5233752475247526 GeneName:LINC01519; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000237267; TranscriptID:ENST00000454178; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001920 23555923 hsa-mir-125b-1 rs2081443 G N/A 191 patients with TNBC and 192 healthy female controls EFO_0005537 N/A no significance for risk triple-negative breast cancer rs2081443-G of hsa-mir-125b-1 and its dysfunction is not significantly associated with Triple-negative breast cancer by using case-control analysis in 191 patients with TNBC and 192 healthy female controls -0.4 There is no association between microRNA gene polymorphisms and risk of triple negative breast cancer in a Chinese Han population. case-control analysis hsa-mir-125b-1 miRNA Triple-negative breast cancer -0.33 GGGGCGCATA(T > C,G)ACAATCACGC chr11: 122100038 0.7951,.,0.2049 0.81713493883792048,0.00001592762487257,0.18284913353720693 Region score:0.34; TSS score:0.36; Unmatched score:0.71; Average GERP:-0.48464910891089136 GeneName:MIR100HG; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000255248; TranscriptID:ENST00000531381; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR125B1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207971; TranscriptID:ENST00000385236; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000046116; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001921 24528284 NONHSAT179883.1 rs8102150 ? N/A 300 european ancestry escitalpram treated individuals//130 european ancestry citalopram treated individuals EFO_0003761 serotonin reuptake inhibitors Associate Response to serotonin reuptake inhibitors in major depressive disorder (plasma drug and metabolite levels) rs8102150-? of NONHSAT179883.1 is significantly associated with the response to serotonin reuptake inhibitors in major depressive disorder (plasma drug and metabolite levels) by using GWAS analysis in 300 european ancestry escitalpram treated individuals//130 european ancestry citalopram treated individuals(p-value = 7E-7 ;OR = ?). 0.4 Citalopram and escitalopram plasma drug and metabolite concentrations: genome-wide associations. genome-wide association analysis NONHSAT179883.1 lncRNA Unipolar depression 0.33 TTAATAAAAC(C > G)TGCTGTACCT chr19: 49727070 0.8708,0.1292 0.89802338175331294,0.10197661824668705 Region score:0.37; TSS score:0.21; Unmatched score:0.21; Average GERP:0.08457425742574246 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000110943; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001922 28165464 NONHSAT179825.1 rs874460 C N/A 4,478 european ancestry cases and 13,213 european ancestry controls.; 1,722 european ancestry cases and 4,385 european ancestry controls. EFO_0000095 N/A Associate Chronic lymphocytic leukemia rs874460-C of NONHSAT179825.1 is significantly associated with the chronic lymphocytic leukemia by using GWAS analysis in 4,478 european ancestry cases and 13,213 european ancestry controls.; 1,722 european ancestry cases and 4,385 european ancestry controls.(p-value = 3E-8 ;OR = 1.24). 0.4 Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia. genome-wide association analysis NONHSAT179825.1 lncRNA Chronic lymphocytic leukemia 0.33 GCAGGGCAGT(C > A)CTTGGCTGTC chr19: 46673495 0.9251,0.07488 0.90715787461773700,0.09284212538226299 Region score:0.23; TSS score:0.16; Unmatched score:0.4; Average GERP:-0.16163435643564367 GeneName:DACT3-AS1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000245598; TranscriptID:ENST00000500689; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PRKD2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000105287; TranscriptID:ENST00000433867; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001923 26261633 miR373 rs12983273 T N/A 248 Kazakh patients with ESCC and 300 frequency matched control subjects EFO_0005922 N/A no significance for risk esophageal squamous cell carcinoma rs12983273-T of hsa-mir-373 and its dysfunction is not significantly associated with Esophageal squamous cell carcinoma by using case-control analysis in 248 Kazakh patients with ESCC and 300 frequency matched control subjects -0.4 Genetic variation in miR-100 rs1834306 is associated with decreased risk for esophageal squamous cell carcinoma in Kazakh patients in northwest China. case-control analysis hsa-mir-373 miRNA Esophageal squamous cell carcinoma -0.33 TGATATGTAA(C > T)TTTCCTCTTC chr19: 53788578 0.8444,0.1556 0.85497897553516819,0.14502102446483180 Region score:0.4; TSS score:0.27; Unmatched score:0.35; Average GERP:0.09324752475247536 GeneName:AC008753.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000269564; TranscriptID:ENST00000597420; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC008753.3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000269877; TranscriptID:ENST00000595160; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR371A; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000199031; TranscriptID:ENST00000362161; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR371B; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284568; TranscriptID:ENST00000638082; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR372; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000199095; TranscriptID:ENST00000362225; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR373; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000199143; TranscriptID:ENST00000362273; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000593522; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001924 22778062 SNORA34 rs78019883 G N/A N/A function N/A not significant changes in the structure function rs78019883-G of SNORA34 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in nan -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORA34 snoRNA function -0.049 - - - - - - NCRV0000001925 28621612 ANRIL rs10757278 ? N/a 125 bph patients and 220 normal age-matched subjects EFO_0000284 N/A Increasing risk Benign prostate hyperplasia rs10757278-? of ANRIL and its dysfunction is significantly associated with the increasing risk of benign prostate hyperplasia by using case-control analysis in 125 BPH patients and 220 normal age-matched subjects . 0.4 Association of ANRIL gene polymorphisms with prostate cancer and benign prostatic hyperplasia in an Iranian population. case-control analysis ANRIL lncRNA Benign prostatic hyperplasia 0.33 CATTCCGGTA(A > G)GCAGCGATGC chr9: 22124478 0.5919,0.4081 0.59986620795107033,0.40013379204892966 Region score:0.22; TSS score:0.32; Unmatched score:0.24; Average GERP:0.12248019801980198 GeneName:CDKN2B-AS1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000240498; TranscriptID:ENST00000428597; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000877606; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001926 28743860 NONHSAT183032.1 rs6726821 G N/A 8,327 european ancestry individuals//2,087 individuals EFO_0003923 N/A Associate Bone mineral density (paediatric//total body less head) rs6726821-G of NONHSAT183032.1 is significantly associated with the bone mineral density (paediatric//total body less head) by using GWAS analysis in 8,327 european ancestry individuals//2,087 individuals(p-value = 3E-8 ;OR = 0.0769). 0.4 Bivariate genome-wide association meta-analysis of pediatric musculoskeletal traits reveals pleiotropic effects at the SREBF1/TOM1L2 locus. genome-wide association analysis NONHSAT183032.1 lncRNA Bone density 0.451 CACTGTCTTG(T > G)GGGTTAGTCC chr2: 165721604 0.6753,0.3247 0.61542749745158002,0.38457250254841997 Region score:0.41; TSS score:0.45; Unmatched score:0.18; Average GERP:-0.34486831683168323 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001926 24945404 NONHSAT183032.1 rs6726821 T N/A 8,007 european ancestry children//289 surinamese ancestry children//300 turkish ancestry children//232 moroccan ancestry children//588 children EFO_0003923 N/A Associate Bone mineral density (paediatric//total body less head) rs6726821-T of NONHSAT183032.1 is significantly associated with the bone mineral density (paediatric//total body less head) by using GWAS analysis in 8,007 european ancestry children//289 surinamese ancestry children//300 turkish ancestry children//232 moroccan ancestry children//588 children(p-value = 4E-10 ;OR = 0.091). 0.4 Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment. genome-wide association analysis NONHSAT183032.1 lncRNA Bone density 0.451 CACTGTCTTG(T > G)GGGTTAGTCC chr2: 165721604 0.6753,0.3247 0.61542749745158002,0.38457250254841997 Region score:0.41; TSS score:0.45; Unmatched score:0.18; Average GERP:-0.34486831683168323 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001927 23535033 NONHSAT185508.1 rs78022502 ? N/A 303 european ancestry cases; EFO_0000249 N/A Associate Alzheimer's disease (cognitive decline) rs78022502-? of NONHSAT185508.1 is significantly associated with the alzheimer's disease (cognitive decline) by using GWAS analysis in 303 european ancestry cases; (p-value = 2E-6 ;OR = 0.23). 0.4 Genome-wide association study of the rate of cognitive decline in Alzheimer's disease. genome-wide association analysis NONHSAT185508.1 lncRNA Alzheimers disease 0.33 GGCTCGACAC(A > C)AGCCCCAAGG chr2: 127638592 0.9603,0.03974 0.94488245412844036,0.05511754587155963 Region score:0.45; TSS score:0.75; Unmatched score:0.85; Average GERP:-1.0870722772277224 GeneName:LIMS2; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000072163; TranscriptID:ENST00000324938; AnnoType:3PRIME_UTR; mirSVR-Score:-0.0009; mirSVR-E:-24.62 | GeneName:MYO7B; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000169994; TranscriptID:ENST00000428314; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0009; mirSVR-E:-24.62 | NCRV0000001928 27114598 NONHSAT198836.1 rs200495769 T N/A 46 european ancestry cases with pancreatitis//3,023 european ancestry cases without pancreatitis//11 black cases with pancreatitis//339 black cases without pancreatitis//46 hispanic cases with pancreatitis//1,131 hispanic cases without pancreatitis//1 asian ancestry case with pancreatitis//98 asian ancestry cases without pancreatitis//13 cases with with pancreatitis//477 cases without pancreatitis EFO_1001507 N/A Associate Asparaginase-induced acute pancreatitis in acute lymphoblastic leukemia (onset time) rs200495769-T of NONHSAT198836.1 is significantly associated with the asparaginase-induced acute pancreatitis in acute lymphoblastic leukemia (onset time) by using GWAS analysis in 46 european ancestry cases with pancreatitis//3,023 european ancestry cases without pancreatitis//11 black cases with pancreatitis//339 black cases without pancreatitis//46 hispanic cases with pancreatitis//1,131 hispanic cases without pancreatitis//1 asian ancestry case with pancreatitis//98 asian ancestry cases without pancreatitis//13 cases with with pancreatitis//477 cases without pancreatitis(p-value = 3E-7 ;OR = 5.7). 0.4 Clinical and Genetic Risk Factors for Acute Pancreatitis in Patients With Acute Lymphoblastic Leukemia. genome-wide association analysis NONHSAT198836.1 lncRNA Asparaginase-induced acute pancreatitis 0.33 AAGCCTGAGC(C > T)GGTTCCTGTT chr4: 94573377 N/A 0.99985665137614678,0.00014334862385321 Region score:0.74; TSS score:0.62; Unmatched score:0.81; Average GERP:0.7682871287128712 GeneName:PDLIM5; CADD-Score:7; Consquence:missense; GeneID:ENSG00000163110; TranscriptID:ENST00000615540; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001929 26252872 NONHSAT180382.1 rs113393842 C N/A 370 european and other ancestry apoee4 non-carriers EFO_0000249 N/A Associate Cerebral amyloid deposition in apoee4 non-carriers (pet imaging) rs113393842-C of NONHSAT180382.1 is significantly associated with the cerebral amyloid deposition in apoee4 non-carriers (pet imaging) by using GWAS analysis in 370 european and other ancestry apoee4 non-carriers(p-value = 8E-7 ;OR = 0.3822). 0.4 Variations in the FRA10AC1 Fragile Site and 15q21 Are Associated with Cerebrospinal Fluid Abeta1-42 Level. genome-wide association analysis NONHSAT180382.1 lncRNA Alzheimers disease 0.33 TTTCATGTTG(C > T)GTCTTTATCT chr19: 36515665 0.9958,0.004193 0.99065048419979612,0.00934951580020387 Region score:0.66; TSS score:0.48; Unmatched score:0.6; Average GERP:-0.23132485148514853 GeneName:ZNF260; CADD-Score:3; Consquence:5_prime_UTR; GeneID:ENSG00000254004; TranscriptID:ENST00000523638; AnnoType:5PRIME_UTR; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001930 19115949 NONHSAT207105.1 rs2395029 G N/A 275 european ancestry seropositive non-progressors//86 european ancestry seropositive rapid progressors//1,352 european ancestry seronegative controls; (see fellay 2007) EFO_0000765 N/A Associate Aids progression rs2395029-G of NONHSAT207105.1 is significantly associated with the aids progression by using GWAS analysis in 275 european ancestry seropositive non-progressors//86 european ancestry seropositive rapid progressors//1,352 european ancestry seronegative controls; (see fellay 2007)(p-value = 3E-19 ;OR = 3.47). 0.4 Genomewide association study of an AIDS-nonprogression cohort emphasizes the role played by HLA genes (ANRS Genomewide Association Study 02). genome-wide association analysis NONHSAT207105.1 lncRNA Aids 0.33 AATTCCCCTG(T > G)GGCAGCTGTA chr6: 31464003 0.9667,0.03335 0.97352828746177370,0.02647171253822629 Region score:0.33; TSS score:0.37; Unmatched score:0.78; Average GERP:0 GeneName:AL645933.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000233902; TranscriptID:ENST00000440087; AnnoType:UPSTREAM; mirSVR-Score:-0.2598; mirSVR-E:-16.72 | GeneName:HCP5; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000206337; TranscriptID:ENST00000414046; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.2598; mirSVR-E:-16.72 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000195544; AnnoType:REGULATORY; mirSVR-Score:-0.2598; mirSVR-E:-16.72 | NCRV0000001931 28103790 miRNA-146a rs2910164 C N/a 95 normotensive and 98 pe black sa women EFO_0000668 N/A Decreasing risk Severe preeclampsia rs2910164-C of miRNA-146a and its dysfunction is significantly associated with the decreasing risk of severe preeclampsia by using case-control analysis in 95 normotensive and 98 PE Black SA women. 0.4 MicroRNA-146a rs2910164 is associated with severe preeclampsia in Black South African women on HAART. case-control analysis hsa-mir-146a miRNA Preeclampsia 0.33 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 N/A 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001932 29235454 NONHSAT191919.1 rs2839082 ? N/A 56,819 european ancestry individuals//5,748 hispanic/latino individuals//5,119 east asian ancestry individuals//2,070 african american individuals; 37,930 european and asian ancestry individuals EFO_0004695 N/A Associate Intraocular pressure rs2839082-? of NONHSAT191919.1 is significantly associated with the intraocular pressure by using GWAS analysis in 56,819 european ancestry individuals//5,748 hispanic/latino individuals//5,119 east asian ancestry individuals//2,070 african american individuals; 37,930 european and asian ancestry individuals(p-value = 8E-9 ;OR = 0.07). 0.4 A large multi-ethnic genome-wide association study identifies novel genetic loci for intraocular pressure. genome-wide association analysis NONHSAT191919.1 lncRNA Intraocular pressure measurement 0.33 CTCCAGCCAG(C > T)GGTGAACTCA chr21: 46022420 0.5475,0.4525 0.60927147043832823,0.39072852956167176 Region score:0.38; TSS score:0.58; Unmatched score:0.56; Average GERP:-1.9608786138613845 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000665295; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001933 20400778 NONHSAT122787.2 rs17159640 T N/A 1,645 european ancestry cases//881 european ancestry controls//281 african ancestry cases//185 african ancestry controls EFO_0003144 N/A Associate Mortality in heart failure rs17159640-T of NONHSAT122787.2 is significantly associated with the mortality in heart failure by using GWAS analysis in 1,645 european ancestry cases//881 european ancestry controls//281 african ancestry cases//185 african ancestry controls(p-value = 9E-6 ;OR = 1.59). 0.4 Genomic variation associated with mortality among adults of European and African ancestry with heart failure: the cohorts for heart and aging research in genomic epidemiology consortium. genome-wide association analysis NONHSAT122787.2 lncRNA Heart failure 0.33 CTCTAGATGA(A > T)GGCGACTTAT chr7: 112446278 0.9024,0.09764 0.93746018093781855,0.06253981906218144 Region score:0.27; TSS score:0.15; Unmatched score:0.45; Average GERP:0.06060118811881188 GeneName:AC079741.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000180019; TranscriptID:ENST00000321498; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:IFRD1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000006652; TranscriptID:ENST00000403825; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001934 19851984 miR-196a-2 rs11614913 T N/A 137 OPL patients and 136 matched controls EFO_0006566 N/A no significance for risk oral premalignant lesions rs11614913-T of hsa-mir-196a-2 and its dysfunction is not significantly associated with Dysplastic oral keratinocyte by using case-control analysis in 137 OPL patients and 136 matched controls -0.4 Genetic variation in MicroRNA genes and risk of oral premalignant lesions. case-control analysis hsa-mir-196a-2 miRNA Dysplastic oral keratinocyte -0.33 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001935 28199695 NONHSAT221979.1 rs13291799 G N/A 41,355 european ancestry men and 43,369 european ancestry women EFO_0008377 N/A Associate Itch intensity from mosquito bite adjusted by bite size rs13291799-G of NONHSAT221979.1 is significantly associated with the itch intensity from mosquito bite adjusted by bite size by using GWAS analysis in 41,355 european ancestry men and 43,369 european ancestry women(p-value = 1E-6 ;OR = 0.0214165). 0.4 GWAS of self-reported mosquito bite size, itch intensity and attractiveness to mosquitoes implicates immune-related predisposition loci. genome-wide association analysis NONHSAT221979.1 lncRNA Mosquito bite reaction itch intensity measurement 0.33 ACAGGCTGGA(A > G)AGTTCCTTAT chr9: 85392796 0.6016,0.3984 0.49625700815494393,0.50374299184505606 Region score:0.39; TSS score:0.2; Unmatched score:0.08; Average GERP:-0.40896990099009917 GeneName:AL583827.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000285634; TranscriptID:ENST00000648131; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001936 24375517 NONHSAT125675.2 rs17060993 ? N/A 127 european ancestry cases//984 european ancestry controls; 116 european ancestry cases//125 european ancestry controls Orphanet_93957 N/A Associate Musician's dystonia rs17060993-? of NONHSAT125675.2 is significantly associated with the musician's dystonia by using GWAS analysis in 127 european ancestry cases//984 european ancestry controls; 116 european ancestry cases//125 european ancestry controls(p-value = 2E-6 ;OR = 2.7). 0.4 Genome-wide association study in musician's dystonia: a risk variant at the arylsulfatase G locus? genome-wide association analysis NONHSAT125675.2 lncRNA Limb dystonia 0.33 TGTGTTTTGG(T > A)CAAGTTTCTT chr8: 27064595 0.9505,0.04952 0.92945654943934760,0.07054345056065239 Region score:0.31; TSS score:0.09; Unmatched score:0.36; Average GERP:0.10031683168316818 GeneName:AC067904.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253899; TranscriptID:ENST00000517322; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001937 22778062 SNORA76 rs7211359 A N/a N/a function N/A Not significant changes in the structure Function rs7211359-A of SNORA76 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORA76 snoRNA Function -0.049 TCAATCTGCA(G > A)CGCTAGAGCA chr17: 64146394 N/A RS=7211359;RSPOS=64146394;dbSNPBuildID=116;SSR=0;SAO=0;VP=0x0500000c0005000102000100;GENEINFO=SNORD104:692227|SNORA50C:677842|SNHG25:105376843;WGT=1;VC=SNV;INT;R3;ASP;GNO Region score:0.67; TSS score:0.56; Unmatched score:0.88; Average GERP:2.6630792079207883 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000096897; AnnoType:REGULATORY; mirSVR-Score:-0.2063; mirSVR-E:-16.24 | GeneName:RF00407; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000281311; TranscriptID:ENST00000628590; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.2063; mirSVR-E:-16.24 | GeneName:SNHG25; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000266402; TranscriptID:ENST00000582965; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.2063; mirSVR-E:-16.24 | GeneName:SNORA50C; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000277887; TranscriptID:ENST00000408535; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.2063; mirSVR-E:-16.24 | GeneName:SNORD104; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000199753; TranscriptID:ENST00000362883; AnnoType:DOWNSTREAM; mirSVR-Score:-0.2063; mirSVR-E:-16.24 | GeneName:TEX2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000136478; TranscriptID:ENST00000258991; AnnoType:DOWNSTREAM; mirSVR-Score:-0.2063; mirSVR-E:-16.24 | NCRV0000001938 24962325 NONHSAT219278.1 rs10810935 A N/A 685 european ancestry cases//1,103 european ancestry controls from 118 families EFO_0003829 N/A Associate Alcohol dependence (age at onset) rs10810935-A of NONHSAT219278.1 is significantly associated with the alcohol dependence (age at onset) by using GWAS analysis in 685 european ancestry cases//1,103 european ancestry controls from 118 families(p-value = 2E-6 ;OR = 1.35). 0.4 Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families. genome-wide association analysis NONHSAT219278.1 lncRNA Alcohol dependence 0.33 TGGCATTTCA(A > G,T)TTCAGTGGGA chr9: 18251857 0.8213,0.1787,. 0.80374777013251783,0.19598146024464831,0.00027076962283384 Region score:0.36; TSS score:0.13; Unmatched score:0; Average GERP:0.7635940594059408 GeneName:ADAMTSL1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000178031; TranscriptID:ENST00000636209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001939 20195266 NONHSAT174117.1 rs17216786 ? N/A 421 european ancestry//214 african american//and 103 cases GO_0097338 N/A Associate Response to antipsychotic treatment rs17216786-? of NONHSAT174117.1 is significantly associated with the response to antipsychotic treatment by using GWAS analysis in 421 european ancestry//214 african american//and 103 cases(p-value = 1E-6 ;OR = ?). 0.4 Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs. genome-wide association analysis NONHSAT174117.1 lncRNA Response to clozapine 0.33 TGATAATGAC(C > A)CTGCCTTTGT chr16: 83453866 0.9655,0.03454 0.95041730377166156,0.04958269622833843 Region score:0.31; TSS score:0.28; Unmatched score:0.1; Average GERP:-1.1284683168316831 GeneName:CDH13; CADD-Score:2; Consquence:intron; GeneID:ENSG00000140945; TranscriptID:ENST00000268613; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001940 28604730 NONHSAT206401.1 rs34357052 C N/A 29,266 european ancestry cases//56,450 european ancestry controls EFO_0001071 N/A Associate Lung cancer rs34357052-C of NONHSAT206401.1 is significantly associated with the lung cancer by using GWAS analysis in 29,266 european ancestry cases//56,450 european ancestry controls(p-value = 3E-6 ;OR = 1.0624987). 0.4 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. genome-wide association analysis NONHSAT206401.1 lncRNA Lung cancer 0.33 ACTCCTGGGC(T > C)CAATCAATCC chr5: 141815981 0.7808,0.2192 0.74382804536187563,0.25617195463812436 Region score:0.42; TSS score:0.33; Unmatched score:0.19; Average GERP:-0.26371294059405936 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001941 27863252 NONHSAT060713.2 rs778798 C N/A 171,996 european ancestry individuals EFO_0007992 N/A Associate Basophil percentage of white cells rs778798-C of NONHSAT060713.2 is significantly associated with the basophil percentage of white cells by using GWAS analysis in 171,996 european ancestry individuals(p-value = 2E-12 ;OR = 0.02815868). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT060713.2 lncRNA Basophil percentage of leukocytes 0.33 GGTGGCCTCA(A > C)CAAGCCCCTC chr19: 5839602 0.1671,0.8329 0.17967157237512742,0.82032842762487257 Region score:0.55; TSS score:0.74; Unmatched score:0.94; Average GERP:-0.48882079207920853 GeneName:FUT3; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000171124; TranscriptID:ENST00000303225; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:FUT6; CADD-Score:3; Consquence:5_prime_UTR; GeneID:ENSG00000156413; TranscriptID:ENST00000318336; AnnoType:5PRIME_UTR; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000583179; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001942 26830138 NONHSAT160327.1 rs2313143 A N/A 2,478 european ancestry cases//979 ancestry controls both from the same 1,070 families EFO_0000249 N/A Associate Alzheimer disease and age of onset rs2313143-A of NONHSAT160327.1 is significantly associated with the alzheimer disease and age of onset by using GWAS analysis in 2,478 european ancestry cases//979 ancestry controls both from the same 1,070 families(p-value = 2E-7 ;OR = 5.224). 0.4 Family-based association analyses of imputed genotypes reveal genome-wide significant association of Alzheimer's disease with OSBPL6, PTPRG, and PDCL3. genome-wide association analysis NONHSAT160327.1 lncRNA Alzheimers disease 0.33 TTGAATCCAC(G > A)CATCACCAAG chr11: 50114007 0.6817,0.3183 0.90057180173292558,0.09942819826707441 Region score:0.33; TSS score:0.08; Unmatched score:0; Average GERP:0 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001943 28346442 NONHSAT183139.1 rs6755777 T N/A 22,406 european ancestry cases//40,941 european ancestry controls EFO_0001075 N/A Associate Epithelial ovarian cancer rs6755777-T of NONHSAT183139.1 is significantly associated with the epithelial ovarian cancer by using GWAS analysis in 22,406 european ancestry cases//40,941 european ancestry controls(p-value = 3E-15 ;OR = 1.12). 0.4 Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer. genome-wide association analysis NONHSAT183139.1 lncRNA Ovarian cancer 0.33 GGAGACGCAG(T > A,G)AGCGCAGGCT chr2: 176178498 0.1843,.,0.8157 0.24060270132517838,0.00016724006116207,0.75923005861365953 Region score:0.39; TSS score:0.55; Unmatched score:0.96; Average GERP:1.5272277227722766 GeneName:HAGLR; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000224189; TranscriptID:ENST00000452365; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HAGLROS; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000226363; TranscriptID:ENST00000426615; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000629037; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001944 23251661 NONHSAT076962.2 rs359980 G N/A 815 hispanic children from 263 families EFO_0004818 N/A Associate Obesity-related traits rs359980-G of NONHSAT076962.2 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 7E-6 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. genome-wide association analysis NONHSAT076962.2 lncRNA Transforming growth factor beta measurement 0.33 CTGGAATACC(T > C)CGCTACTTAT chr2: 218964484 0.8504,0.1496 0.92199445718654434,0.07800554281345565 Region score:0.52; TSS score:0.68; Unmatched score:0.66; Average GERP:1.6690287128712866 GeneName:AC097468.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000235024; TranscriptID:ENST00000429343; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CDK5R2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000171450; TranscriptID:ENST00000302625; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001945 27918534 NONHSAT053492.2 rs2123685 T N/A 7,399 european ancestry women//7,381 european ancestry men//2,163 african american women//1,304 african american men EFO_0004766 N/A Associate Subcutaneous adipose tissue rs2123685-T of NONHSAT053492.2 is significantly associated with the subcutaneous adipose tissue by using GWAS analysis in 7,399 european ancestry women//7,381 european ancestry men//2,163 african american women//1,304 african american men(p-value = 3E-8 ;OR = 5.52). 0.4 Multiethnic genome-wide meta-analysis of ectopic fat depots identifies loci associated with adipocyte development and differentiation. genome-wide association analysis NONHSAT053492.2 lncRNA Subcutaneous adipose tissue measurement 0.33 TATAAAACCG(T > C)AGCTTAATGA chr17: 39897636 0.9842,0.01577 0.97481046126401630,0.02518953873598369 Region score:0.38; TSS score:0.11; Unmatched score:0.05; Average GERP:0.03869980198019799 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001946 28025584 NONHSAT024855.2 rs11219122 C N/A 1,229 cases//7,526 controls Orphanet_85443 N/A Associate Immunoglobulin light chain (al) amyloidosis rs11219122-C of NONHSAT024855.2 is significantly associated with the immunoglobulin light chain (al) amyloidosis by using GWAS analysis in 1,229 cases//7,526 controls(p-value = 2E-6 ;OR = 1.25). 0.4 Genome-wide association study of immunoglobulin light chain amyloidosis in three patient cohorts: comparison with myeloma. genome-wide association analysis NONHSAT024855.2 lncRNA Al amyloidosis 0.33 ACAAAGGAAA(T > A,C)GGAGGGATTA chr11: 123369465 0.5483,.,0.4517 0.49994425331294597,0.01087856778797145,0.48917717889908256 Region score:0.37; TSS score:0.31; Unmatched score:0.06; Average GERP:-0.468109108910891 GeneName:GRAMD1B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000023171; TranscriptID:ENST00000638157; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001947 29059683 NONHSAT196478.1 rs2136690 G N/A 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls EFO_0000305 N/A Associate Breast cancer rs2136690-G of NONHSAT196478.1 is significantly associated with the breast cancer by using GWAS analysis in 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls(p-value = 4E-6 ;OR = 0.0289). 0.4 Association analysis identifies 65 new breast cancer risk loci. genome-wide association analysis NONHSAT196478.1 lncRNA Breast cancer 0.33 ATCAAAGGTC(A > G)AAACCCTGGA chr3: 156645453 0.4846,0.5154 0.49917176350662589,0.50082823649337410 Region score:0.28; TSS score:0.36; Unmatched score:0.19; Average GERP:-0.1551801980198019 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001948 28199695 NONHSAT200344.1 rs75583553 ? N/A 84,724 european ancestry individuals EFO_0008378 N/A Associate Mosquito bite size rs75583553-? of NONHSAT200344.1 is significantly associated with the mosquito bite size by using GWAS analysis in 84,724 european ancestry individuals(p-value = 4E-6 ;OR = 0.0256056). 0.4 GWAS of self-reported mosquito bite size, itch intensity and attractiveness to mosquitoes implicates immune-related predisposition loci. genome-wide association analysis NONHSAT200344.1 lncRNA Mosquito bite reaction size measurement 0.33 GGAGTTACAC(AC > A)CAAAAAGTTC chr4: 123350979 0.5168,0.4832 0.44607702599388379,0.55392297400611620 N/A GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000735391; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000735392; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001949 22675492 NONHSAT178648.1 rs17056274 G N/A 1,583 european ancestry female individuals EFO_0004697 N/A Associate Estradiol levels rs17056274-G of NONHSAT178648.1 is significantly associated with the estradiol levels by using GWAS analysis in 1,583 european ancestry female individuals(p-value = 4E-6 ;OR = 0.658). 0.4 Genome-wide association study of circulating estradiol, testosterone, and sex hormone-binding globulin in postmenopausal women. genome-wide association analysis NONHSAT178648.1 lncRNA Estradiol measurement 0.33 TCAAGAGTCT(A > G)GGGTCTCCGA chr18: 75075090 0.9465,0.05351 0.95603179153924566,0.04396820846075433 Region score:0.35; TSS score:0.21; Unmatched score:0.14; Average GERP:-0.3001039603960394 GeneName:AC015819.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000273669; TranscriptID:ENST00000613588; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC015819.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000278607; TranscriptID:ENST00000618730; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001950 22778062 SNORD1A rs73369110 A N/A N/A function N/A not significant changes in the structure function rs73369110-A of SNORD1A and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in nan -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD1A snoRNA function -0.049 GTCCCACAAG(C > A)CTATGATGGT chr17: 76561639 0.9483,0.05172 0.95326038481141692,0.04673961518858307 Region score:0.39; TSS score:0.33; Unmatched score:0.64; Average GERP:0.96850099009901 GeneName:AC015802.4; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000267546; TranscriptID:ENST00000589963; AnnoType:UPSTREAM; mirSVR-Score:-0.0834; mirSVR-E:-6.01 | GeneName:AC015802.6; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000284526; TranscriptID:ENST00000640006; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0834; mirSVR-E:-6.01 | GeneName:SNHG16; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000163597; TranscriptID:ENST00000448136; AnnoType:INTRONIC; mirSVR-Score:-0.0834; mirSVR-E:-6.01 | GeneName:SNORD1A; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000278261; TranscriptID:ENST00000364968; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0834; mirSVR-E:-6.01 | GeneName:SNORD1B; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000199961; TranscriptID:ENST00000363091; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0834; mirSVR-E:-6.01 | GeneName:SNORD1C; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000274091; TranscriptID:ENST00000363315; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0834; mirSVR-E:-6.01 | GeneName:ST6GALNAC2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000070731; TranscriptID:ENST00000225276; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0834; mirSVR-E:-6.01 | NCRV0000001951 25103824 mir-5197 rs2042253 C Dominant 452 early-stage and 526 late-stage NSCLC cases in a Caucasian population EFO_0003060 N/A decreasing risk non-small cell lung carcinoma rs2042253-C of hsa-mir-5197 and its dysfunction is significantly associated with the decreasing risk of Non-small cell lung carcinoma by using case-control analysis in 452 early-stage and 526 late-stage NSCLC cases in a Caucasian population 0.4 Polymorphisms in MicroRNAs are associated with survival in non-small cell lung cancer. case-control analysis hsa-mir-5197 miRNA Non-small cell lung carcinoma 0.33 TGTATGGGAT(T > C)CCACAGACAA chr5: 143679868 0.6905,0.3095 0.71814475025484199,0.28185524974515800 Region score:0.53; TSS score:0.41; Unmatched score:0.46; Average GERP:0.19162485148514835 GeneName:AC008696.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000249881; TranscriptID:ENST00000503323; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR5197; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000266478; TranscriptID:ENST00000583721; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000772309; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001952 27951730 H19 rs2839702 T N/A 313 AML patients EFO_0000222 N/A no significance for prognosis acute myeloid leukemia rs2839702-T of H19 and its dysfunction is not significantly associated with Acute myeloid leukemia by using analysis of sequence variation in 313 AML patients -0.4 Long non-coding RNA GAS5 polymorphism predicts a poor prognosis of acute myeloid leukemia in Chinese patients via affecting hematopoietic reconstitution. analysis of sequence variation H19 lncRNA Acute myeloid leukemia -0.33 TGGTTCCTCT(A > C,T)GCTTCACCTA chr11: 1995787 0.7099,0.2901,. 1 Region score:0.18; TSS score:0.47; Unmatched score:0.86; Average GERP:-0.7642009900990099 GeneName:H19; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000130600; TranscriptID:ENST00000414790; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.3759; mirSVR-E:-14.08 | GeneName:LINC01219; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000232987; TranscriptID:ENST00000418612; AnnoType:DOWNSTREAM; mirSVR-Score:-0.3759; mirSVR-E:-14.08 | GeneName:MIR675; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000284010; TranscriptID:ENST00000390168; AnnoType:DOWNSTREAM; mirSVR-Score:-0.3759; mirSVR-E:-14.08 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000035875; AnnoType:REGULATORY; mirSVR-Score:-0.3759; mirSVR-E:-14.08 | GeneName:RF01972; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000275266; TranscriptID:ENST00000617997; AnnoType:UPSTREAM; mirSVR-Score:-0.3759; mirSVR-E:-14.08 | GeneName:RF01973; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000274866; TranscriptID:ENST00000620857; AnnoType:UPSTREAM; mirSVR-Score:-0.3759; mirSVR-E:-14.08 | NCRV0000001953 22778062 SNORA80 rs4816431 G N/A N/A function N/A not significant changes in the structure function rs4816431-G of SNORA80 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in nan -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORA80 snoRNA function -0.049 AGCCTACGGG(A > C)ACAGAGGCCA chr21: 32377224 0.1084,0.8916 0.07432626146788990,0.92567373853211009 Region score:0.47; TSS score:0.21; Unmatched score:0.45; Average GERP:0.772712871287129 GeneName:SNORA80A; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000200792; TranscriptID:ENST00000363922; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:URB1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000142207; TranscriptID:ENST00000382751; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001954 23251661 NONHSAT155419.1 rs28461806 G N/A 815 hispanic children from 263 families EFO_0004749 N/A Associate Obesity-related traits rs28461806-G of NONHSAT155419.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 5E-8 ;OR = 0.05). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. genome-wide association analysis NONHSAT155419.1 lncRNA Ccl2 measurement 0.33 CTGCTGCTCC(T > C)TCCTCTCCAC chr10: 43260306 N/A 0.99996018093781855,0.00003981906218144 Region score:0.21; TSS score:0.33; Unmatched score:0.29; Average GERP:-0.47458247524752445 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000401878; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RASGEF1A; CADD-Score:2; Consquence:intron; GeneID:ENSG00000198915; TranscriptID:ENST00000395810; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001955 29382303 miR-204 rs718447 G Recessive 95 AML patients and 148 healthy individuals EFO_0000222 N/A increasing risk acute myeloid leukemia rs718447-G of hsa-mir-204 and its dysfunction is significantly associated with the increasing risk of Acute myeloid leukemia by using case-control analysis in 95 AML patients and 148 healthy individuals 0.9 Genetic variation of the gene coding for microRNA-204 (miR-204) is a risk factor in acute myeloid leukaemia. case-control analysis hsa-mir-204 miRNA Acute myeloid leukemia 0.593 CTATGACTAT(G > A)TCTACATATC chr9: 70811937 0.7011,0.2989 0.68577981651376146,0.31422018348623853 Region score:0.25; TSS score:0.23; Unmatched score:0.21; Average GERP:-1.0599683168316836 GeneName:MIR204; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207935; TranscriptID:ENST00000385200; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000882259; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TRPM3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000083067; TranscriptID:ENST00000377110; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001956 20520619 mir-146a rs2910164 C N/a 230 gbc cases and 230 controls EFO_1001956 N/A No significance for risk Gallbladder cancer rs2910164-C of mir-146a and its dysfunction is not significantly associated with gallbladder cancer by using case-control analysis in 230 GBC cases and 230 controls. -0.4 Common genetic variants in pre-microRNAs and risk of gallbladder cancer in North Indian population. case-control analysis hsa-mir-146a miRNA Gallbladder cancer -0.33 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 N/A 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001957 27262462 NONHSAT053287.2 rs11651052 A N/A 2,511 european ancestry cases//1,382 european ancestry controls EFO_0001663 N/A Associate Prostate cancer rs11651052-A of NONHSAT053287.2 is significantly associated with the prostate cancer by using GWAS analysis in 2,511 european ancestry cases//1,382 european ancestry controls(p-value = 3E-10 ;OR = 1.37). 0.4 Genome-wide association of familial prostate cancer cases identifies evidence for a rare segregating haplotype at 8q24.21. genome-wide association analysis NONHSAT053287.2 lncRNA Prostate cancer 0.33 CTAGAACTCC(G > A)GGAACTCCAA chr17: 37742390 0.4239,0.5761 0.49823999745158002,0.50176000254841997 Region score:0.38; TSS score:0.43; Unmatched score:0.72; Average GERP:-1.6867455445544552 GeneName:HNF1B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000275410; TranscriptID:ENST00000617811; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000093699; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001958 26545630 NONHSAT213261.1 rs57375391 ? N/A 300 alzheimer's disease cases//373 controls EFO_0000249 N/A Associate Cerebrospinal fluid clusterin levels rs57375391-? of NONHSAT213261.1 is significantly associated with the cerebrospinal fluid clusterin levels by using GWAS analysis in 300 alzheimer's disease cases//373 controls(p-value = 2E-6 ;OR = 0.497). 0.4 A potential endophenotype for Alzheimer's disease: cerebrospinal fluid clusterin. genome-wide association analysis NONHSAT213261.1 lncRNA Alzheimers disease 0.33 GCAAAAGGGG(A > G)AAAAAGTAGC chr7: 22665007 0.8247,0.1753 0.83182020897043832,0.16817979102956167 Region score:0.25; TSS score:0.42; Unmatched score:0.84; Average GERP:0.30114257425742574 GeneName:STEAP1B; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000105889; TranscriptID:ENST00000414116; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001959 23326517 NONHSAT150261.1 rs1061147 A N/A 3,772 european ancestry cases//16,033 european ancestry controls; 264 asian ancestry cases//3,926 asian ancestry controls EFO_0001365 N/A Associate Age-related macular degeneration rs1061147-A of NONHSAT150261.1 is significantly associated with the age-related macular degeneration by using GWAS analysis in 3,772 european ancestry cases//16,033 european ancestry controls; 264 asian ancestry cases//3,926 asian ancestry controls(p-value = 7E-32 ;OR = 1.4). 0.4 Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis. genome-wide association analysis NONHSAT150261.1 lncRNA Age-related macular degeneration 0.33 GAAATACAGC(A > C)AAATGCACAA chr1: 196685194 0.2869,0.7131 0.35663544852191641,0.64336455147808358 Region score:0.29; TSS score:0.27; Unmatched score:0.43; Average GERP:-0.28640693069306933 GeneName:CFH; CADD-Score:5; Consquence:synonymous; GeneID:ENSG00000000971; TranscriptID:ENST00000367429; AnnoType:SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001960 25676789 NONHSAT032211.2 rs114363471 ? N/A 1,607 european ancestry individuals//238 east asian individuals//84 african american individuals//85 hispanic individuals//13 individuals HP_0002149 allopurinol in gout Associate Serum uric acid levels in response to allopurinol in gout rs114363471-? of NONHSAT032211.2 is significantly associated with the serum uric acid levels in response to allopurinol in gout by using GWAS analysis in 1,607 european ancestry individuals//238 east asian individuals//84 african american individuals//85 hispanic individuals//13 individuals(p-value = 3E-6 ;OR = 1.5006). 0.4 Genome-wide association study identifies ABCG2 (BCRP) as an allopurinol transporter and a determinant of drug response. genome-wide association analysis NONHSAT032211.2 lncRNA Hyperuricemia 0.33 TCCCGCCCTT(C > T)GCCCGGTTGA chr13: 18792141 0.9619,0.03814 0.96575560652395514,0.03424439347604485 Region score:0.17; TSS score:0.02; Unmatched score:0; Average GERP:0 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001961 26634245 NONHSAT018018.2 rs4076943 T N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs4076943-T of NONHSAT018018.2 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 2E-7 ;OR = 0.094). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT018018.2 lncRNA Pulmonary function measurement 0.33 TAAGGTCCTG(A > C,T)TCAATCAATG chr11: 11239853 0.7616,.,0.2384 0.69843431447502548,0.00000796381243628,0.30155772171253822 Region score:0.33; TSS score:0.18; Unmatched score:0.5; Average GERP:-0.9047554455445537 GeneName:KC877392.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000255260; TranscriptID:ENST00000524855; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MTND5P21; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000255123; TranscriptID:ENST00000531961; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001962 26608782 miR-499 rs3746444 A N/A 827 ischemic stroke cases and 922 controls in china HP_0002140 N/A decreasing risk Ischemic stroke rs3746444-A of hsa-mir-499a and its dysfunction is significantly associated with the decreasing risk of Ischemic stroke by using meta-analysis in 827 ischemic stroke cases and 922 controls in china 0.4 Association Between Single-Nucleotide Polymorphism (SNP) in miR-146a, miR-196a2, and miR-499 and Risk of Ischemic Stroke: A Meta-Analysis. meta-analysis hsa-mir-499a miRNA Ischemic stroke 0.33 CCACGTGAAC(A > G)TCACAGCAAG chr20: 34990448 0.8165,0.1835 0.81708715596330275,0.18291284403669724 Region score:0.79; TSS score:0.85; Unmatched score:0.95; Average GERP:3.757564356435645 GeneName:MIR499A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207635; TranscriptID:ENST00000384903; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR499B; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283441; TranscriptID:ENST00000636498; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYH7B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000078814; TranscriptID:ENST00000262873; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001963 28443625 NONHSAT152966.1 rs765751 C N/A 95,362 european ancestry women//62,085 european ancestry men//5,829 european ancestry individuals//10,500 african american/afro-caribbean ancestry women//2,706 african american/afro-caribbean ancestry men//1,030 indian asian ancestry women//7,648 indian asian ancestry men//1,793 filipino ancestry women//2,944 hispanic/latino ancestry women//1,764 hispanic/latino ancestry men; 21,496 european ancestry women//24,385 european ancestry men//118,364 european ancestry individuals//2,326 african american/afro-caribbean ancestry women//855 african american/afro-caribbean ancestry men EFO_0007788 adjusted for smoking behaviour Associate Waist-to-hip ratio adjusted for bmi (adjusted for smoking behaviour) rs765751-C of NONHSAT152966.1 is significantly associated with the waist-to-hip ratio adjusted for bmi (adjusted for smoking behaviour) by using GWAS analysis in 95,362 european ancestry women//62,085 european ancestry men//5,829 european ancestry individuals//10,500 african american/afro-caribbean ancestry women//2,706 african american/afro-caribbean ancestry men//1,030 indian asian ancestry women//7,648 indian asian ancestry men//1,793 filipino ancestry women//2,944 hispanic/latino ancestry women//1,764 hispanic/latino ancestry men; 21,496 european ancestry women//24,385 european ancestry men//118,364 european ancestry individuals//2,326 african american/afro-caribbean ancestry women//855 african american/afro-caribbean ancestry men(p-value = 9E-31 ;OR = 0.031). 0.4 Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits. genome-wide association analysis NONHSAT152966.1 lncRNA Bmi-adjusted waist-hip ratio 0.33 TCATGCTGCG(T > C)TCCAAATCGT chr1: 219495884 0.4547,0.5453 0.42612767584097859,0.57387232415902140 Region score:0.36; TSS score:0.36; Unmatched score:0.1; Average GERP:1.4893113861386138 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001964 23696099 NONHSAT139199.2 rs1050828 A N/A 1904 african american individuals; 411 african american individuals EFO_0004526 N/A Associate Red blood cell traits rs1050828-A of NONHSAT139199.2 is significantly associated with the red blood cell traits by using GWAS analysis in 1904 african american individuals; 411 african american individuals(p-value = 1E-14 ;OR = 2.46). 0.4 Genetic variants that confer resistance to malaria are associated with red blood cell traits in African-Americans: an electronic medical record-based genome-wide association study. genome-wide association analysis NONHSAT139199.2 lncRNA Mean corpuscular volume 0.451 GCATAGCCCA(C > T)GATGAAGGTG chrX: 154536002 0.9624,0.03762 0.96296030835881753,0.03703969164118246 Region score:0.58; TSS score:0.29; Unmatched score:0.65; Average GERP:2.551158415841584 GeneName:G6PD; CADD-Score:7; Consquence:missense; GeneID:ENSG00000160211; TranscriptID:ENST00000621232; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001964 28453575 NONHSAT139199.2 rs1050828 C N/A 12,502 hispanic/latino individuals; 4,772 hispanic/latino individuals EFO_0004526 N/A Associate Mean corpuscular volume rs1050828-C of NONHSAT139199.2 is significantly associated with the mean corpuscular volume by using GWAS analysis in 12,502 hispanic/latino individuals; 4,772 hispanic/latino individuals(p-value = 1E-17 ;OR = 1.92). 0.4 Genome-wide association study of red blood cell traits in Hispanics/Latinos: The Hispanic Community Health Study/Study of Latinos. genome-wide association analysis NONHSAT139199.2 lncRNA Mean corpuscular volume 0.451 GCATAGCCCA(C > T)GATGAAGGTG chrX: 154536002 0.9624,0.03762 0.96296030835881753,0.03703969164118246 Region score:0.58; TSS score:0.29; Unmatched score:0.65; Average GERP:2.551158415841584 GeneName:G6PD; CADD-Score:7; Consquence:missense; GeneID:ENSG00000160211; TranscriptID:ENST00000621232; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001965 21297633 NONHSAT191891.1 rs2838519 G N/A 6,687 european ancestry cases//19,718 european ancestry controls; 9,628 european ancestry cases//12,917 european ancestry controls EFO_0000729 N/A Associate Ulcerative colitis rs2838519-G of NONHSAT191891.1 is significantly associated with the ulcerative colitis by using GWAS analysis in 6,687 european ancestry cases//19,718 european ancestry controls; 9,628 european ancestry cases//12,917 european ancestry controls(p-value = 6E-11 ;OR = 1.14). 0.4 Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. genome-wide association analysis NONHSAT191891.1 lncRNA Ulcerative colitis 0.33 TTCACGGTTC(G > A,C)TGATTTGGTT chr21: 44195140 0.4375,0.5625,. 0.93354198521916411,0.06637837665647298,0.00007963812436289 Region score:0.37; TSS score:0.43; Unmatched score:0.26; Average GERP:0.04303168316831687 GeneName:AP001056.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000285413; TranscriptID:ENST00000645813; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GATD3A; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000160221; TranscriptID:ENST00000449622; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000664580; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001966 27713147 miR-499a rs3746444 C N/a 1358 0-iii stage resected crc patients and 1079 healthy controls EFO_0005842 N/A No significance for risk Colorectal cancer rs3746444-C of miR-499a and its dysfunction is not significantly associated with colorectal cancer by using case-control analysis in 1358 0-III stage resected CRC patients and 1079 healthy controls. -0.4 MiR-608, pre-miR-124-1 and pre-miR26a-1 polymorphisms modify susceptibility and recurrence-free survival in surgically resected CRC individuals. case-control analysis hsa-mir-499a miRNA Colorectal cancer -0.451 CCACGTGAAC(A > G)TCACAGCAAG chr20: 34990448 0.8165,0.1835 0.81708715596330275,0.18291284403669724 Region score:0.79; TSS score:0.85; Unmatched score:0.95; Average GERP:3.757564356435645 GeneName:MIR499A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207635; TranscriptID:ENST00000384903; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR499B; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283441; TranscriptID:ENST00000636498; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYH7B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000078814; TranscriptID:ENST00000262873; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001966 24136745 miR-499 rs3746444 C N/a 276 colorectal cancer cases and 373 healthy controls in chinese population EFO_0005842 N/A No significance for risk Colorectal cancer rs3746444-C of miR-499 and its dysfunction is not significantly associated with colorectal cancer by using case-control analysis in 276 colorectal cancer cases and 373 healthy controls in Chinese population. -0.4 Association between microRNA genetic variants and susceptibility to colorectal cancer in Chinese population. case-control analysis hsa-mir-499a miRNA Colorectal cancer -0.451 CCACGTGAAC(A > G)TCACAGCAAG chr20: 34990448 0.8165,0.1835 0.81708715596330275,0.18291284403669724 Region score:0.79; TSS score:0.85; Unmatched score:0.95; Average GERP:3.757564356435645 GeneName:MIR499A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207635; TranscriptID:ENST00000384903; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR499B; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283441; TranscriptID:ENST00000636498; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYH7B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000078814; TranscriptID:ENST00000262873; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001967 20881960 NONHSAT171731.1 rs10152591 A N/A 133,653 european ancestry individuals; 50,074 european ancestry individuals EFO_0004339 N/A Associate Height rs10152591-A of NONHSAT171731.1 is significantly associated with the height by using GWAS analysis in 133,653 european ancestry individuals; 50,074 european ancestry individuals(p-value = 3E-10 ;OR = 0.041). 0.4 Hundreds of variants clustered in genomic loci and biological pathways affect human height. genome-wide association analysis NONHSAT171731.1 lncRNA Body height 0.33 CAGTTTCAAG(A > C)CTGGTGGTTC chr15: 69755818 0.9191,0.08087 0.90419533639143730,0.09580466360856269 Region score:0.44; TSS score:0.58; Unmatched score:0.32; Average GERP:1.1766742574257425 GeneName:DRAIC; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000245750; TranscriptID:ENST00000647319; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001968 25241909 NONHSAT198812.1 rs2869967 C N/A up to 1,662 european ancestry cases//up to 3,520 european ancestry smoker controls//182 african american cases//1,749 african american smoker controls EFO_0000341 N/A Associate Chronic bronchitis and chronic obstructive pulmonary disease rs2869967-C of NONHSAT198812.1 is significantly associated with the chronic bronchitis and chronic obstructive pulmonary disease by using GWAS analysis in up to 1,662 european ancestry cases//up to 3,520 european ancestry smoker controls//182 african american cases//1,749 african american smoker controls(p-value = 6E-10 ;OR = 1.38). 0.4 Genetic susceptibility for chronic bronchitis in chronic obstructive pulmonary disease. genome-wide association analysis NONHSAT198812.1 lncRNA Chronic obstructive pulmonary disease 0.33 CTGGAAGGGT(T > C)AAGGGATGTA chr4: 88948181 0.4996,0.5004 0.50852127930682976,0.49147872069317023 Region score:0.29; TSS score:0.36; Unmatched score:0.16; Average GERP:-0.015185148514851485 GeneName:FAM13A; CADD-Score:2; Consquence:intron; GeneID:ENSG00000138640; TranscriptID:ENST00000264344; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001969 29773352 ANRIL rs2383207 A N/a 200 atherothrombotic stroke cases and 205 controls EFO_1001976 N/A No significance for risk Atherothrombotic stroke rs2383207-A of ANRIL and its dysfunction is not significantly associated with atherothrombotic stroke by using case-control analysis in 200 atherothrombotic stroke cases and 205 controls. -0.4 The ANRIL Genetic Variants and Their Interactions with Environmental Risk Factors on Atherothrombotic Stroke in a Han Chinese Population. case-control analysis ANRIL lncRNA Cardioembolic stroke -0.33 GGATCCCTTC(A > G)GCTAAGCATG chr9: 22115960 0.3109,0.6891 0.34080338939857288,0.65919661060142711 Region score:0.28; TSS score:0.22; Unmatched score:0.31; Average GERP:0.5067666336633664 GeneName:CDKN2B-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000240498; TranscriptID:ENST00000428597; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01909; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277653; TranscriptID:ENST00000617921; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001970 29186428 NONHSAT053947.2 rs5848 T N/A 1,963 european ancestry individuals//848 sorbian (founder/genetic isolate) individuals; 1800 european ancestry individuals EFO_0004625 N/A Associate Progranulin levels rs5848-T of NONHSAT053947.2 is significantly associated with the progranulin levels by using GWAS analysis in 1,963 european ancestry individuals//848 sorbian (founder/genetic isolate) individuals; 1800 european ancestry individuals(p-value = 5E-14 ;OR = 0.0665). 0.4 Genome-wide meta-analysis identifies novel determinants of circulating serum progranulin. genome-wide association analysis NONHSAT053947.2 lncRNA Progranulin measurement 0.33 CTAGCACCTC(C > T)CCCTAACCAA chr17: 44352876 0.5755,0.4245 0.59131307339449541,0.40868692660550458 Region score:0.82; TSS score:0.86; Unmatched score:0.93; Average GERP:0.34927722772277203 GeneName:FAM171A2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000161682; TranscriptID:ENST00000293443; AnnoType:DOWNSTREAM; mirSVR-Score:-0.8176; mirSVR-E:-16.44 | GeneName:GRN; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000030582; TranscriptID:ENST00000053867; AnnoType:3PRIME_UTR; mirSVR-Score:-0.8176; mirSVR-E:-16.44 | NCRV0000001971 22399527 NONHSAT108777.2 rs3099844 A N/A 2,637 european ancestry cases//7,927 european ancestry controls EFO_0000195 N/A Associate Metabolic syndrome rs3099844-A of NONHSAT108777.2 is significantly associated with the metabolic syndrome by using GWAS analysis in 2,637 european ancestry cases//7,927 european ancestry controls(p-value = 2E-8 ;OR = 0.15). 0.4 Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits. genome-wide association analysis NONHSAT108777.2 lncRNA Metabolic syndrome 0.33 ATTTAGGGAC(C > A)ATTGCCTTTT chr6: 31481199 0.9177,0.08227 0.88088525739041794,0.11911474260958205 Region score:0.21; TSS score:0.47; Unmatched score:0.29; Average GERP:0.050742574257425836 GeneName:HCP5; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000206337; TranscriptID:ENST00000467369; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001972 26227905 NONHSAT178361.1 rs1362858 ? N/A 250 han chinese ancestry cases//250 han chinese ancestry controls EFO_0002508 N/A Associate Parkinson's disease rs1362858-? of NONHSAT178361.1 is significantly associated with the parkinson's disease by using GWAS analysis in 250 han chinese ancestry cases//250 han chinese ancestry controls(p-value = 1E-6 ;OR = 2.68). 0.4 A Pooling Genome-Wide Association Study Combining a Pathway Analysis for Typical Sporadic Parkinson's Disease in the Han Population of Chinese Mainland. genome-wide association analysis NONHSAT178361.1 lncRNA Parkinson's disease 0.33 ACTGATTATA(C > A)CTTAATTGTA chr18: 35406636 0.2861,0.7139 0.28980313455657492,0.71019686544342507 Region score:0.39; TSS score:0.14; Unmatched score:0.04; Average GERP:0.22366089108910883 GeneName:AC007998.4; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000275512; TranscriptID:ENST00000612496; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001973 26169365 NONHSAT067642.2 rs1133146 A N/A 539 non-aboriginal taiwanese ancestry low yu-zhi score individuals//408 non-aboriginal taiwanese ancestry high yu-zhi score individuals EFO_0001360 N/A Associate Yu-zhi constitution type in type 2 diabetes rs1133146-A of NONHSAT067642.2 is significantly associated with the yu-zhi constitution type in type 2 diabetes by using GWAS analysis in 539 non-aboriginal taiwanese ancestry low yu-zhi score individuals//408 non-aboriginal taiwanese ancestry high yu-zhi score individuals(p-value = 5E-6 ;OR = 1.52). 0.4 Susceptible gene of stasis-stagnation constitution from genome-wide association study related to cardiovascular disturbance and possible regulated traditional Chinese medicine. genome-wide association analysis NONHSAT067642.2 lncRNA Type ii diabetes mellitus 0.33 TAAGGATGAT(G > A,C)AGTGACATCA chr19: 53163407 0.4822,0.5178,. 0.49818425076452599,0.50176796636085626,0.00004778287461773 Region score:0.33; TSS score:0.61; Unmatched score:0.64; Average GERP:-0.31125970297029704 GeneName:AC092070.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000268842; TranscriptID:ENST00000600257; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.2546; mirSVR-E:-11.19 | GeneName:ZNF347; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000197937; TranscriptID:ENST00000452676; AnnoType:UPSTREAM; mirSVR-Score:-0.2546; mirSVR-E:-11.19 | GeneName:ZNF665; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000197497; TranscriptID:ENST00000396424; AnnoType:3PRIME_UTR; mirSVR-Score:-0.2546; mirSVR-E:-11.19 | NCRV0000001974 21681796 NONHSAT055957.2 rs1055129 G N/A 9,361 european ancestry individuals; 3,024 european ancestry individuals Orphanet_136 N/A Associate White matter hyperintensity burden rs1055129-G of NONHSAT055957.2 is significantly associated with the white matter hyperintensity burden by using GWAS analysis in 9,361 european ancestry individuals; 3,024 european ancestry individuals(p-value = 3E-11 ;OR = ?). 0.4 Genome-wide association studies of cerebral white matter lesion burden: the CHARGE consortium. genome-wide association analysis NONHSAT055957.2 lncRNA Cadasil 0.33 ACAGCCCTAC(A > G)CTCGGGTCCC chr17: 75876867 0.5771,0.4229 0.56778797145769622,0.43221202854230377 Region score:0.46; TSS score:0.59; Unmatched score:0.77; Average GERP:-0.4885818811881188 GeneName:AC087289.5; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000267801; TranscriptID:ENST00000586076; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000564532; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000564535; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TRIM47; CADD-Score:2; Consquence:intron; GeneID:ENSG00000132481; TranscriptID:ENST00000254816; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TRIM65; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000141569; TranscriptID:ENST00000591668; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001975 25673459 miR-27a rs895819 C Recessive 995 patients newly diagnosed with T2DM and 967 controls with overweight people (24 鈮?body mass index [BMI] < 28). EFO_0001360 N/A increasing risk type II diabetes mellitus rs895819-C of hsa-mir-27a and its dysfunction is significantly associated with the increasing risk of Type ii diabetes mellitus by using case-control analysis in 995 patients newly diagnosed with T2DM and 967 controls with overweight people (24 鈮?body mass index [BMI] < 28). 0.4 Affection of single-nucleotide polymorphisms in miR-27a, miR-124a, and miR-146a on susceptibility to type 2 diabetes mellitus in Chinese Han people. case-control analysis hsa-mir-27a miRNA Type ii diabetes mellitus 0.451 CACGACTTGG(T > C)GTGGACCCTG chr19: 13836478 0.6362,0.3638 0.63091711264016309,0.36908288735983690 Region score:0.57; TSS score:0.41; Unmatched score:0.75; Average GERP:2.158386138613861 GeneName:AC020916.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000267519; TranscriptID:ENST00000587762; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR23A; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207980; TranscriptID:ENST00000385245; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR24-2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284387; TranscriptID:ENST00000386972; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR27A; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207808; TranscriptID:ENST00000385073; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000107447; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ZSWIM4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000132003; TranscriptID:ENST00000254323; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001975 27300034 mir-27a rs895819 C Dominant 204 t2dm patients and 209 sex- and age-matched controls EFO_0001360 N/A Decreasing risk Type 2 diabetes mellitus rs895819-C of mir-27a and its dysfunction is significantly associated with the decreasing risk of type 2 diabetes mellitus by using case-control analysis in 204 T2DM patients and 209 sex- and age-matched controls. 0.4 The pre-mir-27a variant rs895819 may contribute to type 2 diabetes mellitus susceptibility in an Iranian cohort. case-control analysis hsa-mir-27a miRNA Type ii diabetes mellitus 0.451 CACGACTTGG(T > C)GTGGACCCTG chr19: 13836478 0.6362,0.3638 0.63091711264016309,0.36908288735983690 Region score:0.57; TSS score:0.41; Unmatched score:0.75; Average GERP:2.158386138613861 GeneName:AC020916.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000267519; TranscriptID:ENST00000587762; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR23A; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207980; TranscriptID:ENST00000385245; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR24-2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284387; TranscriptID:ENST00000386972; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR27A; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207808; TranscriptID:ENST00000385073; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000107447; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ZSWIM4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000132003; TranscriptID:ENST00000254323; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001976 28240269 NONHSAT156922.1 rs2505535 A N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0008272 N/A Associate Blood protein levels rs2505535-A of NONHSAT156922.1 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 3E-19 ;OR = 0.4312). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. genome-wide association analysis NONHSAT156922.1 lncRNA Proto-oncogene tyrosine-protein kinase receptor ret measurement 0.33 TGAGGCCACT(A > G)TGAGTTACAA chr10: 43097595 0.2468,0.7532 0.20517169979612640,0.79482830020387359 Region score:0.22; TSS score:0.3; Unmatched score:0.22; Average GERP:-0.3037028613861385 GeneName:RET; CADD-Score:2; Consquence:intron; GeneID:ENSG00000165731; TranscriptID:ENST00000355710; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001977 24986923 NONHSAT164834.1 rs73329476 T N/A 202 han chinese ancestry cases//198 han chinese ancestry controls; 490 han chinese ancestry cases//541 han chinese ancestry controls Orphanet_182098 silica exposure Associate Pneumoconiosis in silica exposure rs73329476-T of NONHSAT164834.1 is significantly associated with the pneumoconiosis in silica exposure by using GWAS analysis in 202 han chinese ancestry cases//198 han chinese ancestry controls; 490 han chinese ancestry cases//541 han chinese ancestry controls(p-value = 2E-8 ;OR = 2.17). 0.4 A genome-wide association study identifies susceptibility loci of silica-related pneumoconiosis in Han Chinese. genome-wide association analysis NONHSAT164834.1 lncRNA Pneumoconiosis 0.33 ACATCCCTCA(C > T)TCATAGCACA chr12: 69110303 0.8119,0.1881 0.83436862895005096,0.16563137104994903 Region score:0.28; TSS score:0.18; Unmatched score:0.09; Average GERP:-0.3502371287128712 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000461760; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001978 26178671 let-7 rs10993081 G N/A 503 metabolic syndrome patients and 529 normal controls in a Chinese population EFO_0000195 N/A increasing risk metabolic syndrome rs10993081-G of hsa-let-7a-1 and its dysfunction is significantly associated with the increasing risk of Metabolic syndrome by using case-control analysis in 503 metabolic syndrome patients and 529 normal controls in a Chinese population 0.4 Let-7 related genetic variation and risk of metabolic syndrome in a Chinese population. case-control analysis hsa-let-7a-1 miRNA Metabolic syndrome 0.33 GACCAAATGT(A > G)TGCTTTTTGT chr9: 94177436 0.896,0.104 0.92999808868501529,0.07000191131498470 Region score:0.48; TSS score:0.34; Unmatched score:0.54; Average GERP:-0.3555480000000001 GeneName:AL158152.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000269929; TranscriptID:ENST00000602652; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LINC02603; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000230262; TranscriptID:ENST00000416309; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIRLET7A1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000199165; TranscriptID:ENST00000362295; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIRLET7A1HG; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000269946; TranscriptID:ENST00000602703; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIRLET7D; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000199133; TranscriptID:ENST00000362263; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIRLET7F1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000199072; TranscriptID:ENST00000362202; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001979 24682535 MIR-146a rs2910164 C N/A 132 type 2 diabetes patients (T2D) analysed for Diabetic polyneuropathy (DPN) and 128 T2D patients analysed for cardiovascular autonomic neuropathy (CAN) EFO_1000783 N/A decreasing risk diabetic neuropathy rs2910164 -C of hsa-mir-146a and its dysfunction is significantly associated with the decreasing risk of Diabetic neuropathy by using case-control analysis in 132 type 2 diabetes patients (T2D) analysed for Diabetic polyneuropathy (DPN) and 128 T2D patients analysed for cardiovascular autonomic neuropathy (CAN) 0.4 Common polymorphisms in MIR146a, MIR128a and MIR27a genes contribute to neuropathy susceptibility in type 2 diabetes. case-control analysis hsa-mir-146a miRNA Diabetic neuropathy 0.33 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 0 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001980 27863252 NONHSAT184647.1 rs2580764 A N/A 164,454 european ancestry individuals EFO_0004584 N/A Associate Mean platelet volume rs2580764-A of NONHSAT184647.1 is significantly associated with the mean platelet volume by using GWAS analysis in 164,454 european ancestry individuals(p-value = 2E-11 ;OR = 0.02509536). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT184647.1 lncRNA Mean platelet volume 0.33 AAGTCCTCAC(G > A)GACCAACATT chr2: 54969820 0.6869,0.3131 0.68566035932721712,0.31433964067278287 Region score:0.55; TSS score:0.25; Unmatched score:0.33; Average GERP:-0.034533702970297044 GeneName:EML6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000214595; TranscriptID:ENST00000356458; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RTN4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000115310; TranscriptID:ENST00000337526; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001981 22139419 NONHSAT010798.2 rs3811444 C N/A 38,891 european ancestry individuals//1,661 val borbera (founder/genetic isolate) individuals//521 carlantino (founder/genetic isolate) individuals//1,198 friuli venezia giulia (founder/genetic isolate) individuals//1,213 south tyrolean (founder/genetic isolate) individuals//890 sorbian (founder/genetic isolate) individuals//4,292 sardinian (founder/genetic isolate) individuals; up to 16,949 european ancestry individuals//854 cliento (founder/genetic isolate) individuals//1,035 talana (founder/genetic isolate) individuals EFO_0004309 N/A Associate Platelet count rs3811444-C of NONHSAT010798.2 is significantly associated with the platelet count by using GWAS analysis in 38,891 european ancestry individuals//1,661 val borbera (founder/genetic isolate) individuals//521 carlantino (founder/genetic isolate) individuals//1,198 friuli venezia giulia (founder/genetic isolate) individuals//1,213 south tyrolean (founder/genetic isolate) individuals//890 sorbian (founder/genetic isolate) individuals//4,292 sardinian (founder/genetic isolate) individuals; up to 16,949 european ancestry individuals//854 cliento (founder/genetic isolate) individuals//1,035 talana (founder/genetic isolate) individuals(p-value = 6E-9 ;OR = 3.346). 0.4 New gene functions in megakaryopoiesis and platelet formation. genome-wide association analysis NONHSAT010798.2 lncRNA Platelet count 0.33 GGGGAAACCA(C > T)GCCATCTCCT chr1: 247876149 0.7726,0.2274 0.74839927370030581,0.25160072629969418 Region score:0.13; TSS score:0.23; Unmatched score:0.34; Average GERP:0.6634764356435642 GeneName:TRIM58; CADD-Score:7; Consquence:missense; GeneID:ENSG00000162722; TranscriptID:ENST00000366481; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001982 26708676 NONHSAT154060.1 rs12122341 G N/A up to 2,349 european ancestry cases//up to 220 african ancestry cases//up to 146 hispanic cases//26,690 european ancestry controls//3,354 african ancestry controls//2,429 hispanic controls; 33 african ancestry cases//34 east asian ancestry cases//1,787 european ancestry cases//40 hispanic ancestry cases//355 south asian ancestry cases//239 african ancestry controls//329 east asian ancestry controls//176,782 european ancestry controls//686 hispanic controls//5,193 south asian ancestry controls HP_0002140 N/A Associate Ischemic stroke (large artery atherosclerosis) rs12122341-G of NONHSAT154060.1 is significantly associated with the ischemic stroke (large artery atherosclerosis) by using GWAS analysis in up to 2,349 european ancestry cases//up to 220 african ancestry cases//up to 146 hispanic cases//26,690 european ancestry controls//3,354 african ancestry controls//2,429 hispanic controls; 33 african ancestry cases//34 east asian ancestry cases//1,787 european ancestry cases//40 hispanic ancestry cases//355 south asian ancestry cases//239 african ancestry controls//329 east asian ancestry controls//176,782 european ancestry controls//686 hispanic controls//5,193 south asian ancestry controls(p-value = 1E-9 ;OR = 1.19). 0.4 Loci associated with ischaemic stroke and its subtypes (SiGN): a genome-wide association study. genome-wide association analysis NONHSAT154060.1 lncRNA Ischemic stroke 0.33 AAGGGTCGCT(C > G)GATGTCCGCA chr1: 115113069 0.8854,0.1146 0.82220788735983690,0.17779211264016309 Region score:0.39; TSS score:0.34; Unmatched score:0.25; Average GERP:0.02940099009900991 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000253709; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001983 24888363 MIR137 rs71738863 ? Dominant 345 bd patients, 426 sz patients and 1376 healthy individuals, all unrelated, in v?sterbotten region of northern sweden EFO_0000692 N/A Increasing risk Schizophrenia rs71738863-? of MIR137 and its dysfunction is significantly associated with the increasing risk of schizophrenia by using case-control analysis in 345 BD patients, 426 SZ patients and 1376 healthy individuals, all unrelated, in V?sterbotten region of Northern Sweden. By using the disease cell lines or tissues, the interference and mutation of MIR137 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 MIR137 variants identified in psychiatric patients affect synaptogenesis and neuronal transmission gene sets. case-control analysis; Function hsa-mir-137 miRNA Schizophrenia 0.593 N/A N/A N/A N/A N/A N/A NCRV0000001984 25575512 NONHSAT211333.1 rs9457516 ? N/A 1,376 old order amish individuals EFO_0000319 N/A Associate Lipoprotein (a) - cholesterol levels rs9457516-? of NONHSAT211333.1 is significantly associated with the lipoprotein (a) - cholesterol levels by using GWAS analysis in 1,376 old order amish individuals(p-value = 6E-9 ;OR = ?). 0.4 Evidence for several independent genetic variants affecting lipoprotein (a) cholesterol levels. genome-wide association analysis NONHSAT211333.1 lncRNA Cardiovascular disease 0.33 AGTTTAGCCT(C > T)GATAGTGGGT chr6: 158914219 0.7784,0.2216 0.81548642966360856,0.18451357033639143 Region score:0.2; TSS score:0.2; Unmatched score:0.19; Average GERP:-1.3343970297029704 GeneName:C6orf99; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000203711; TranscriptID:ENST00000643288; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001985 22778062 SNORD114-9 rs73350950 T N/A N/A function N/A not significant changes in the structure function rs73350950-T of SNORD114-9 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in nan -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD114-9 snoRNA function -0.049 AATCTTGGAT(C > T)GATGATGACT chr14: 100966034 0.9966,0.003395 0.99516596585117227,0.00483403414882772 Region score:0.48; TSS score:0.11; Unmatched score:0.57; Average GERP:-1.7116039603960402 GeneName:MEG8; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000225746; TranscriptID:ENST00000638012; AnnoType:INTRONIC; mirSVR-Score:-0.1857; mirSVR-E:-15.99 | GeneName:SNORD114-10; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000200279; TranscriptID:ENST00000363409; AnnoType:UPSTREAM; mirSVR-Score:-0.1857; mirSVR-E:-15.99 | GeneName:SNORD114-11; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000200608; TranscriptID:ENST00000363738; AnnoType:UPSTREAM; mirSVR-Score:-0.1857; mirSVR-E:-15.99 | GeneName:SNORD114-12; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000202270; TranscriptID:ENST00000365400; AnnoType:UPSTREAM; mirSVR-Score:-0.1857; mirSVR-E:-15.99 | GeneName:SNORD114-13; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000201247; TranscriptID:ENST00000364377; AnnoType:UPSTREAM; mirSVR-Score:-0.1857; mirSVR-E:-15.99 | GeneName:SNORD114-7; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000199390; TranscriptID:ENST00000362520; AnnoType:DOWNSTREAM; mirSVR-Score:-0.1857; mirSVR-E:-15.99 | GeneName:SNORD114-9; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000201240; TranscriptID:ENST00000364370; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.1857; mirSVR-E:-15.99 | NCRV0000001986 28181694 NONHSAT034038.2 rs12428820 A N/A 488 european ancestry female children//445 european ancestry male children; 245 european ancestry female children//241 european ancestry male children EFO_0007621 N/A Associate Pediatric bone mineral content (hip) rs12428820-A of NONHSAT034038.2 is significantly associated with the pediatric bone mineral content (hip) by using GWAS analysis in 488 european ancestry female children//445 european ancestry male children; 245 european ancestry female children//241 european ancestry male children(p-value = 4E-6 ;OR = 0.30272). 0.4 A Genomewide Association Study Identifies Two Sex-Specific Loci, at SPTB and IZUMO3, Influencing Pediatric Bone Mineral Density at Multiple Skeletal Sites. genome-wide association analysis NONHSAT034038.2 lncRNA Bone mineral content measurement 0.33 CCCACCTAAC(G > A)CTATTTTTTT chr13: 55053346 0.9219,0.07808 0.90902140672782874,0.09097859327217125 Region score:0.48; TSS score:0.28; Unmatched score:0.05; Average GERP:-0.7941891089108912 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001987 27863252 NONHSAT197523.1 rs6782228 C N/A 169,822 european ancestry individuals EFO_0007987 N/A Associate Granulocyte count rs6782228-C of NONHSAT197523.1 is significantly associated with the granulocyte count by using GWAS analysis in 169,822 european ancestry individuals(p-value = 3E-14 ;OR = 0.03102483). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT197523.1 lncRNA Granulocyte count 0.33 AGCCAGGCAG(G > C)ACTGGACTTG chr3: 128604581 0.6859,0.3141 0.71094546381243628,0.28905453618756371 Region score:0.25; TSS score:0.41; Unmatched score:0.29; Average GERP:-0.473041287128713 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000700244; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001988 28754779 NONHSAT224109.1 rs2179628 ? N/A 1,959 european ancestry cases//1,488 european ancestry alcohol abuse controls//4,552 european ancestry controls EFO_1002013 N/A Associate Alcoholic chronic pancreatitis rs2179628-? of NONHSAT224109.1 is significantly associated with the alcoholic chronic pancreatitis by using GWAS analysis in 1,959 european ancestry cases//1,488 european ancestry alcohol abuse controls//4,552 european ancestry controls(p-value = 1E-7 ;OR = 2.4949129). 0.4 Genome-wide association study identifies inversion in the CTRB1-CTRB2 locus to modify risk for alcoholic and non-alcoholic chronic pancreatitis. genome-wide association analysis NONHSAT224109.1 lncRNA Alcoholic pancreatitis 0.33 AGTTTACTTA(C > G)CTTTCTGTGC chrX: 107434651 0.9807,0.01934 0.95615124872579001,0.04384875127420998 Region score:0.44; TSS score:0.06; Unmatched score:0.04; Average GERP:0.3503782178217821 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001989 25740697 piR_000335 rs34383331 T N/A 1147 patients with CRC (cases) and 1203 cancer-free individuals EFO_0005842 N/A no significance for risk colorectal cancer rs34383331-T of piR_000335 and its dysfunction is not significantly associated with Colorectal cancer by using case-control analysis in 1147 patients with CRC (cases) and 1203 cancer-free individuals -0.4 Genetic variants in noncoding PIWI-interacting RNA and colorectal cancer risk. case-control analysis piR_000335 piRNA Colorectal cancer -0.33 GGACCGTTCG(T > A)GTTCTGTGGT chr22: 23895892 0.8171,0.1829 0.82495540265035677,0.17504459734964322 Region score:0.3; TSS score:0.31; Unmatched score:0.63; Average GERP:-0.45557759405940607 GeneName:AP000350.4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000251357; TranscriptID:ENST00000433835; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIF-AS1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000218537; TranscriptID:ENST00000406213; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIF; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000240972; TranscriptID:ENST00000215754; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000144308; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001990 24684796 NONHSAT164324.1 rs3741489 C N/A 423 type 2 diabetes cases and 127 unaffected siblings from 257 families EFO_0003925 N/A Associate Cognitive function rs3741489-C of NONHSAT164324.1 is significantly associated with the cognitive function by using GWAS analysis in 423 type 2 diabetes cases and 127 unaffected siblings from 257 families(p-value = 2E-6 ;OR = 13.9397). 0.4 Heritability and genetic association analysis of cognition in the Diabetes Heart Study. genome-wide association analysis NONHSAT164324.1 lncRNA Cognition 0.33 AACAGACTTC(T > C)GCTTTAACTG chr12: 132841216 0.8153,0.1847 0.88409467380224260,0.11590532619775739 Region score:0.35; TSS score:0.4; Unmatched score:0.64; Average GERP:-0.35256227722772276 GeneName:CHFR; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000072609; TranscriptID:ENST00000432561; AnnoType:3PRIME_UTR; mirSVR-Score:-0.0366; mirSVR-E:-11.43 | NCRV0000001991 23251661 NONHSAT199851.1 rs6834483 G N/A 815 hispanic children from 263 families EFO_0003940 N/A Associate Obesity-related traits rs6834483-G of NONHSAT199851.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 3E-6 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. genome-wide association analysis NONHSAT199851.1 lncRNA Physical activity 0.33 ATAACCAAGA(C > T)AAAAAAGTTT chr4: 35981489 0.03095,0.969 0.02711678134556574,0.97288321865443425 Region score:0.33; TSS score:0.13; Unmatched score:0.04; Average GERP:-0.3326445544554456 GeneName:ARAP2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000047365; TranscriptID:ENST00000503225; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001992 27488534 NONHSAT179753.1 rs76617915 A N/A 437 european ancestry individuals//364 african american individuals//453 latino individuals//674 japanese american individuals//311 native hawaiian ancestry individuals EFO_0004318 N/A Associate Nicotine metabolite ratio in current smokers rs76617915-A of NONHSAT179753.1 is significantly associated with the nicotine metabolite ratio in current smokers by using GWAS analysis in 437 european ancestry individuals//364 african american individuals//453 latino individuals//674 japanese american individuals//311 native hawaiian ancestry individuals(p-value = 2E-8 ;OR = 0.6151). 0.4 Novel Association of Genetic Markers Affecting CYP2A6 Activity and Lung Cancer Risk. genome-wide association analysis NONHSAT179753.1 lncRNA Smoking behavior 0.33 TGATGACAAG(G > A)ATAAAGGTGG chr19: 41032173 0.9948,0.005192 0.99802497451580020,0.00197502548419979 Region score:0.21; TSS score:0.3; Unmatched score:0.13; Average GERP:0.04906158415841588 GeneName:CYP2A7P1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000213908; TranscriptID:ENST00000595391; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000590296; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001993 27989323 NONHSAT189104.1 rs1202138 G N/A 843 finnish ancestry individuals EFO_0005140 N/A Associate Monocyte chemoattractant protein-3 levels rs1202138-G of NONHSAT189104.1 is significantly associated with the monocyte chemoattractant protein-3 levels by using GWAS analysis in 843 finnish ancestry individuals(p-value = 8E-6 ;OR = 0.4782). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. genome-wide association analysis NONHSAT189104.1 lncRNA Autoimmune disease 0.33 CACAAACTTT(A > G)ATCTCAATCA chr20: 61088512 0.008986,0.991 0.02121559633027522,0.97878440366972477 Region score:0.35; TSS score:0.32; Unmatched score:0.1; Average GERP:-0.0019059405940593697 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001994 26152337 hsa-mir-1178 rs7311975 C N/a 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs7311975-C of hsa-mir-1178 and its dysfunction is not significantly associated with hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors. -0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. case-control analysis hsa-mir-1178 miRNA Hepatocellular cancer -0.33 CATGCTCAGC(T > C,G)GACCCTGGAC chr12: 119713688 N/A 0.84338366462793068,0.13744743883792048,0.01916889653414882 Region score:0.5; TSS score:0.1; Unmatched score:0.45; Average GERP:0.10352376237623757 GeneName:CIT; CADD-Score:2; Consquence:intron; GeneID:ENSG00000122966; TranscriptID:ENST00000392521; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR1178; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283768; TranscriptID:ENST00000408396; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000471794; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001995 26634245 NONHSAT198893.1 rs73838643 T N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio rs73838643-T of NONHSAT198893.1 is significantly associated with the post bronchodilator fev1/fvc ratio by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 3E-6 ;OR = 0.073). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT198893.1 lncRNA Pulmonary function measurement 0.33 GGAGGGGAAC(C > A,T)GAAAAGTCAC chr4: 104901402 0.9978,.,0.002196 0.99747547145769622,0.00003185524974515,0.00249267329255861 Region score:0.44; TSS score:0.28; Unmatched score:0.19; Average GERP:0.06633643564356435 GeneName:AC004053.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000248242; TranscriptID:ENST00000515127; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000311346; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000732176; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001996 22818121 miR-26a-1 rs7372209 T N/a 388 patients with nsclc EFO_0003060 N/A No significance for risk Non-small cell lung cancer rs7372209-T of miR-26a-1 and its dysfunction is not significantly associated with non-small cell lung cancer by using analysis of sequence variation in 388 patients with NSCLC. -0.4 The prognostic impact of microRNA sequence polymorphisms on the recurrence of patients with completely resected non-small cell lung cancer. analysis of sequence variation hsa-mir-26a-1 miRNA Non-small cell lung cancer -0.33 ATTAATCCTT(T > C)GTACCACGTG chr3: 37969217 0.2015,0.7985 0.21918800968399592,0.78081199031600407 Region score:0.25; TSS score:0.19; Unmatched score:0.58; Average GERP:0.42166831683168315 GeneName:CTDSPL; CADD-Score:2; Consquence:intron; GeneID:ENSG00000144677; TranscriptID:ENST00000273179; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR26A1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000199075; TranscriptID:ENST00000362205; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000682913; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001997 25242229 miR-34a rs72631823 A Dominant 65 pairs of surgically resected os (prior to neoadjuvant chemotherapy administration) and adjacent normal bone tissue EFO_0000637 N/A Increasing risk Osteosarcoma rs72631823-A of miR-34a and its dysfunction is significantly associated with the increasing risk of Osteosarcoma by using case-control analysis in 65 pairs of surgically resected OS (prior to neoadjuvant chemotherapy administration) and adjacent normal bone tissue . By using the disease cell lines or tissues, the interference and mutation of miR-34a has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 A polymorphism site in the premiR34a coding region reduces miR34a expression and promotes osteosarcoma cell proliferation and migration. case-control analysis; Function hsa-mir-34a miRNA Osteosarcoma 0.593 TGCTTCCTTA(C > T)TATTGCTCAC chr1: 9151723 0.999,0.0009984 0.99960977319062181,0.00039022680937818 Region score:0.49; TSS score:0.48; Unmatched score:0.65; Average GERP:3.979267326732669 GeneName:MIR34A; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000284357; TranscriptID:ENST00000385130; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR34AHG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000228526; TranscriptID:ENST00000635687; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000346642; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001998 27846195 NONHSAT183299.1 rs59000197 T N/A 1,390 european ancestry cases EFO_0000692 paliperidone Associate Response to paliperidone in schizophrenia (negative marder score) rs59000197-T of NONHSAT183299.1 is significantly associated with the response to paliperidone in schizophrenia (negative marder score) by using GWAS analysis in 1,390 european ancestry cases(p-value = 6E-6 ;OR = 2.5473). 0.4 Genome-wide association study of paliperidone efficacy. genome-wide association analysis NONHSAT183299.1 lncRNA Schizophrenia 0.33 TATATATATA(T > C)ATACACACAC chr2: 190244144 0.9111,0.08506 0.94273222477064220,0.05726777522935779 Region score:0.11; TSS score:0.05; Unmatched score:0.07; Average GERP:-0.02339239130434794 GeneName:HIBCH; CADD-Score:2; Consquence:intron; GeneID:ENSG00000198130; TranscriptID:ENST00000359678; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000001999 19836008 NONHSAT108486.2 rs4324798 A N/A 5,739 european ancestry cases//5,848 european ancestry controls; 7,561 european ancestry cases//13,818 european ancestry controls EFO_0000571 N/A Associate Lung adenocarcinoma rs4324798-A of NONHSAT108486.2 is significantly associated with the lung adenocarcinoma by using GWAS analysis in 5,739 european ancestry cases//5,848 european ancestry controls; 7,561 european ancestry cases//13,818 european ancestry controls(p-value = 2E-8 ;OR = 1.16). 0.4 A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma. genome-wide association analysis NONHSAT108486.2 lncRNA Lung adenocancer 0.33 AAGACATCCT(G > A)AGCGAGGTAG chr6: 28808340 0.9585,0.04153 0.92395355504587155,0.07604644495412844 Region score:0.34; TSS score:0.29; Unmatched score:0.61; Average GERP:-0.34199999999999975 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002000 28452372 NONHSAT153828.1 rs10874312 A N/A 110,517 european ancestry individuals; EFO_0003884 creatinine Associate Glomerular filtration rate (creatinine) rs10874312-A of NONHSAT153828.1 is significantly associated with the glomerular filtration rate (creatinine) by using GWAS analysis in 110,517 european ancestry individuals; (p-value = 2E-8 ;OR = 0.0057). 0.4 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function. genome-wide association analysis NONHSAT153828.1 lncRNA Chronic kidney disease 0.33 AGACTATACC(G > A)ATTTCATCTT chr1: 82478888 0.3498,0.6502 0.31238054281345565,0.68761945718654434 Region score:0.52; TSS score:0.21; Unmatched score:0.05; Average GERP:0.5737025742574259 GeneName:AL157944.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000233290; TranscriptID:ENST00000650063; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002001 23382691 NONHSAT035982.2 rs8010715 C N/A 2,247 european ancestry individuals EFO_0002690 N/A Associate Igg glycosylation rs8010715-C of NONHSAT035982.2 is significantly associated with the igg glycosylation by using GWAS analysis in 2,247 european ancestry individuals(p-value = 9E-6 ;OR = 0.1664). 0.4 Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. genome-wide association analysis NONHSAT035982.2 lncRNA Systemic lupus erythematosus 0.33 AAAGAATTTA(T > C)GGTAATCATA chr14: 24139938 0.5347,0.4653 0.64854102956167176,0.35145897043832823 Region score:0.25; TSS score:0.25; Unmatched score:0.57; Average GERP:0.17436831683168316 GeneName:AL136295.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000259321; TranscriptID:ENST00000558478; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:EMC9; CADD-Score:2; Consquence:intron; GeneID:ENSG00000100908; TranscriptID:ENST00000419198; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR7703; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000283856; TranscriptID:ENST00000620784; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000066832; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000492852; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PSME1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000092010; TranscriptID:ENST00000382708; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PSME2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000100911; TranscriptID:ENST00000216802; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002002 26785701 NONHSAT209963.1 rs368123 G N/A up to 44,609 east asian individuals; up to 25,553 east asian individuals//up to 230,044 individuals EFO_0004342 N/A Associate Waist circumference rs368123-G of NONHSAT209963.1 is significantly associated with the waist circumference by using GWAS analysis in up to 44,609 east asian individuals; up to 25,553 east asian individuals//up to 230,044 individuals(p-value = 3E-8 ;OR = 0.032). 0.4 Genome-wide association studies in East Asians identify new loci for waist-hip ratio and waist circumference. genome-wide association analysis NONHSAT209963.1 lncRNA Waist circumference 0.33 AATCAGGCAC(A > G)GAGATGGCAA chr6: 160298561 0.4816,0.5184 0.38280453618756371,0.61719546381243628 Region score:0.33; TSS score:0.35; Unmatched score:0.16; Average GERP:-1.1998653465346538 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002003 29059683 NONHSAT108577.2 rs3094146 C N/A 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls EFO_0000305 N/A Associate Breast cancer rs3094146-C of NONHSAT108577.2 is significantly associated with the breast cancer by using GWAS analysis in 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls(p-value = 7E-7 ;OR = 0.0543). 0.4 Association analysis identifies 65 new breast cancer risk loci. genome-wide association analysis NONHSAT108577.2 lncRNA Breast cancer 0.33 CACTAAGGCA(G > C)GACATTCCTA chr6: 30003183 0.9776,0.02236 0.93675936544342507,0.06324063455657492 Region score:0.22; TSS score:0.18; Unmatched score:0.36; Average GERP:0 GeneName:AL671277.2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000237669; TranscriptID:ENST00000458060; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HLA-J; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000204622; TranscriptID:ENST00000462773; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000195353; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ZNRD1ASP; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000204623; TranscriptID:ENST00000420251; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002004 26776603 NONHSAT016481.2 rs1679568 A N/A 31 japanese ancestry mild cases//282 japanese ancestry moderate cases//131 japanese ancestry severe cases EFO_0000685 N/A Associate Response to anti-tnf therapy in rheumatoid arthritis rs1679568-A of NONHSAT016481.2 is significantly associated with the response to anti-tnf therapy in rheumatoid arthritis by using GWAS analysis in 31 japanese ancestry mild cases//282 japanese ancestry moderate cases//131 japanese ancestry severe cases(p-value = 5E-6 ;OR = 0.44). 0.4 A longitudinal genome-wide association study of anti-tumor necrosis factor response among Japanese patients with rheumatoid arthritis. genome-wide association analysis NONHSAT016481.2 lncRNA Rheumatoid arthritis 0.451 GTGTGTGTGT(G > A)TGACAGAGAG chr10: 116058040 0.7802,0.2198 0.78418864678899082,0.21581135321100917 Region score:0.33; TSS score:0.63; Unmatched score:0.51; Average GERP:-1.1743238461538463 GeneName:GFRA1; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000151892; TranscriptID:ENST00000369236; AnnoType:3PRIME_UTR; mirSVR-Score:-0.0098; mirSVR-E:-18.35 | NCRV0000002004 26776603 NONHSAT016481.2 rs1679568 ? N/A 31 japanese ancestry mild cases//282 japanese ancestry moderate cases//131 japanese ancestry severe cases EFO_0000685 N/A Associate Response to anti-tnf therapy in rheumatoid arthritis rs1679568-? of NONHSAT016481.2 is significantly associated with the response to anti-tnf therapy in rheumatoid arthritis by using GWAS analysis in 31 japanese ancestry mild cases//282 japanese ancestry moderate cases//131 japanese ancestry severe cases(p-value = 8E-7 ;OR = 0.35). 0.4 A longitudinal genome-wide association study of anti-tumor necrosis factor response among Japanese patients with rheumatoid arthritis. genome-wide association analysis NONHSAT016481.2 lncRNA Rheumatoid arthritis 0.451 GTGTGTGTGT(G > A)TGACAGAGAG chr10: 116058040 0.7802,0.2198 0.78418864678899082,0.21581135321100917 Region score:0.33; TSS score:0.63; Unmatched score:0.51; Average GERP:-1.1743238461538463 GeneName:GFRA1; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000151892; TranscriptID:ENST00000369236; AnnoType:3PRIME_UTR; mirSVR-Score:-0.0098; mirSVR-E:-18.35 | NCRV0000002005 27008869 NONHSAT053287.2 rs11651052 ? N/A 4,907 european ancestry cases//11,945 european ancestry controls EFO_1001512 N/A Associate Endometrial cancer rs11651052-? of NONHSAT053287.2 is significantly associated with the endometrial cancer by using GWAS analysis in 4,907 european ancestry cases//11,945 european ancestry controls(p-value = 1E-8 ;OR = 1.16). 0.4 GWAS meta-analysis of 16 852 women identifies new susceptibility locus for endometrial cancer. genome-wide association analysis NONHSAT053287.2 lncRNA Endometrial cancer 0.33 CTAGAACTCC(G > A)GGAACTCCAA chr17: 37742390 0.4239,0.5761 0.49823999745158002,0.50176000254841997 Region score:0.38; TSS score:0.43; Unmatched score:0.72; Average GERP:-1.6867455445544552 GeneName:HNF1B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000275410; TranscriptID:ENST00000617811; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000093699; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002006 25961943 NONHSAT179793.1 rs429358 T N/A up to 62,166 european ancestry individuals EFO_0000319 N/A Associate Hdl cholesterol rs429358-T of NONHSAT179793.1 is significantly associated with the hdl cholesterol by using GWAS analysis in up to 62,166 european ancestry individuals(p-value = 1E-14 ;OR = 0.066). 0.4 The impact of low-frequency and rare variants on lipid levels. genome-wide association analysis NONHSAT179793.1 lncRNA Cardiovascular disease 0.33 GGAGGACGTG(T > C)GCGGCCGCCT chr19: 44908684 0.8494,0.1506 0.84440303261977573,0.15559696738022426 Region score:0.28; TSS score:0.39; Unmatched score:0.64; Average GERP:1.473687128712871 GeneName:AC011481.3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000280087; TranscriptID:ENST00000623895; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:APOE; CADD-Score:7; Consquence:missense; GeneID:ENSG00000130203; TranscriptID:ENST00000252486; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TOMM40; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000130204; TranscriptID:ENST00000252487; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002007 27863252 NONHSAT010798.2 rs3811444 T N/A 172,925 european ancestry individuals EFO_0004509 N/A Associate Hemoglobin concentration rs3811444-T of NONHSAT010798.2 is significantly associated with the hemoglobin concentration by using GWAS analysis in 172,925 european ancestry individuals(p-value = 1E-9 ;OR = 0.02286733). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT010798.2 lncRNA Hemoglobin measurement 0.33 GGGGAAACCA(C > T)GCCATCTCCT chr1: 247876149 0.7726,0.2274 0.74839927370030581,0.25160072629969418 Region score:0.13; TSS score:0.23; Unmatched score:0.34; Average GERP:0.6634764356435642 GeneName:TRIM58; CADD-Score:7; Consquence:missense; GeneID:ENSG00000162722; TranscriptID:ENST00000366481; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002008 26831199 NONHSAT211806.1 rs2290263 A N/A 133,413 european ancestry individuals; 42,166 european ancestry individuals//up to 16,471 african ancestry individuals//up to 42,296 asian ancestry individuals EFO_0003884 creatinine Associate Glomerular filtration rate (creatinine) rs2290263-A of NONHSAT211806.1 is significantly associated with the glomerular filtration rate (creatinine) by using GWAS analysis in 133,413 european ancestry individuals; 42,166 european ancestry individuals//up to 16,471 african ancestry individuals//up to 42,296 asian ancestry individuals(p-value = 7E-7 ;OR = 0.0045). 0.4 Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function. genome-wide association analysis NONHSAT211806.1 lncRNA Chronic kidney disease 0.33 GCAGCTTCCA(G > A)TGGACTCCAT chr7: 25847658 0.1673,0.8327 0.22430077726809378,0.77569922273190621 Region score:0.48; TSS score:0.47; Unmatched score:0.27; Average GERP:-1.0705009900990097 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002009 25891929 miR-146a rs57095329 G Dominant 249 epilepsy patients and 249 healthy controls in two regions of China. EFO_0000474 N/A poor prognosis epilepsy rs57095329-G of hsa-mir-146a and its dysfunction is significantly associated with the poor prognosis of Epilepsy by using case-control analysis in 249 epilepsy patients and 249 healthy controls in two regions of China. 0.4 A functional polymorphism of the microRNA-146a gene is associated with susceptibility to drug-resistant epilepsy and seizures frequency. case-control analysis hsa-mir-146a miRNA Epilepsy 0.33 GAGAGTACAG(A > G)CAGGAAGCCT chr5: 160467840 0.8572,0.1428 0.91701707441386340,0.08298292558613659 Region score:0.55; TSS score:0.62; Unmatched score:0.87; Average GERP:3.053772277227722 GeneName:MIR3142HG; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775866; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002010 27863252 NONHSAT219494.1 rs11446839 TG N/A 166,066 european ancestry individuals EFO_0004309 N/A Associate Platelet count rs11446839-TG of NONHSAT219494.1 is significantly associated with the platelet count by using GWAS analysis in 166,066 european ancestry individuals(p-value = 3E-15 ;OR = 0.0288123). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT219494.1 lncRNA Platelet count 0.33 ATTGTCAGAG(T > TG)GGCCTATGCG chr9: 38198231 0.499,0.501 0.52781759683995922,0.47218240316004077 N/A GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002011 27989323 NONHSAT097093.2 rs183725142 G N/A 3,685 finnish ancestry individuals EFO_0005140 N/A Associate Interferon gamma-induced protein 10 levels rs183725142-G of NONHSAT097093.2 is significantly associated with the interferon gamma-induced protein 10 levels by using GWAS analysis in 3,685 finnish ancestry individuals(p-value = 3E-6 ;OR = 0.6188). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. genome-wide association analysis NONHSAT097093.2 lncRNA Autoimmune disease 0.33 AGGAAGAAAG(G > C)TTATTATATA chr4: 78914694 0.9994,0.000599 0.99988850662589194,0.00011149337410805 Region score:0.41; TSS score:0.63; Unmatched score:0.72; Average GERP:0.3358407142857144 GeneName:BMP2K; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000138756; TranscriptID:ENST00000335016; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PAQR3; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000163291; TranscriptID:ENST00000512733; AnnoType:3PRIME_UTR; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002012 27863252 NONHSAT217648.1 rs1982094 T N/A 169,822 european ancestry individuals EFO_0007987 N/A Associate Granulocyte count rs1982094-T of NONHSAT217648.1 is significantly associated with the granulocyte count by using GWAS analysis in 169,822 european ancestry individuals(p-value = 4E-16 ;OR = 0.07377733). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT217648.1 lncRNA Granulocyte count 0.33 CCTAACTTTC(C > T)CTTCCATCTC chr8: 129612570 0.8864,0.1136 0.94813965341488277,0.05186034658511722 Region score:0.34; TSS score:0.31; Unmatched score:0.12; Average GERP:-0.08521782178217828 GeneName:CCDC26; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000229140; TranscriptID:ENST00000446592; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002013 23247143 NONHSAT185135.1 rs11886999 T N/A 9,491 european ancestry individuals//up to 2,053 african american individuals EFO_0003914 N/A Associate Cardiac troponin-t levels rs11886999-T of NONHSAT185135.1 is significantly associated with the cardiac troponin-t levels by using GWAS analysis in 9,491 european ancestry individuals//up to 2,053 african american individuals(p-value = 8E-6 ;OR = 0.04). 0.4 Association of genome-wide variation with highly sensitive cardiac troponin-T levels in European Americans and Blacks: a meta-analysis from atherosclerosis risk in communities and cardiovascular health studies. genome-wide association analysis NONHSAT185135.1 lncRNA Atherosclerosis 0.33 AAGCGAATGC(T > C)CACCTGCCTG chr2: 96176055 0.7466,0.2534 0.78686448776758409,0.21313551223241590 Region score:0.43; TSS score:0.24; Unmatched score:0.26; Average GERP:-0.3221079207920793 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000613336; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002014 25886283 NONHSAT168939.1 rs4905994 T N/A 2,317 european ancestry children//1,283 african american ancestry children EFO_0004845 N/A Associate Magnesium levels rs4905994-T of NONHSAT168939.1 is significantly associated with the magnesium levels by using GWAS analysis in 2,317 european ancestry children//1,283 african american ancestry children(p-value = 4E-6 ;OR = 0.0234). 0.4 Genome-wide association study of serum minerals levels in children of different ethnic background. genome-wide association analysis NONHSAT168939.1 lncRNA Magnesium measurement 0.33 TCTGGGACCT(T > C)CCCAGGTGCC chr14: 100687735 0.4531,0.5469 0.35543291284403669,0.64456708715596330 Region score:0.32; TSS score:0.35; Unmatched score:0.23; Average GERP:-0.5339476237623763 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000507691; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002015 28135244 NONHSAT214604.1 rs77285285 T N/A 140,886 european ancestry individuals; 190,318 european ancestry individuals EFO_0005763 N/A Associate Pulse pressure rs77285285-T of NONHSAT214604.1 is significantly associated with the pulse pressure by using GWAS analysis in 140,886 european ancestry individuals; 190,318 european ancestry individuals(p-value = 4E-7 ;OR = 0.5404). 0.4 Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk. genome-wide association analysis NONHSAT214604.1 lncRNA Pulse pressure measurement 0.33 CAAAAATGCA(C > G,T)GTGCCACAGT chr7: 46196323 0.9437,.,0.05631 0.97409371814475025,0.00000796381243628,0.02589831804281345 Region score:0.36; TSS score:0.16; Unmatched score:0.1; Average GERP:-0.4967069306930691 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002016 25649181 NONHSAT186899.1 rs17835319 A N/A 175 users// 6,268 nonusers EFO_0003761 SSRI exposure interaction Associate Depressive symptoms (ssri exposure interaction) rs17835319-A of NONHSAT186899.1 is significantly associated with the depressive symptoms (ssri exposure interaction) by using GWAS analysis in 175 users// 6,268 nonusers(p-value = 2E-6 ;OR = 0.74). 0.4 Identifying genetic loci associated with antidepressant drug response with drug-gene interaction models in a population-based study. genome-wide association analysis NONHSAT186899.1 lncRNA Unipolar depression 0.33 AAATTATGAA(G > A)GCTGCAGGGA chr2: 49414418 0.8942,0.1058 0.88298770387359836,0.11701229612640163 Region score:0.29; TSS score:0.29; Unmatched score:0.03; Average GERP:-0.8245594059405941 GeneName:AC009975.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000282890; TranscriptID:ENST00000634588; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC009975.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000282998; TranscriptID:ENST00000635306; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002017 26034056 NONHSAT216392.1 rs77541621 A N/A 6,406 european ancestry cases//601 african american cases//288 east asian ancestry cases//488 latino cases30,866 european ancestry controls//1,650 african american controls//2,938 east asian ancestry controls//3,141 latino controls; 4,599 european ancestry cases//2,265 african american cases//2,940 european ancestry controls//2,414 african american controls EFO_0001663 N/A Associate Prostate cancer rs77541621-A of NONHSAT216392.1 is significantly associated with the prostate cancer by using GWAS analysis in 6,406 european ancestry cases//601 african american cases//288 east asian ancestry cases//488 latino cases30,866 european ancestry controls//1,650 african american controls//2,938 east asian ancestry controls//3,141 latino controls; 4,599 european ancestry cases//2,265 african american cases//2,940 european ancestry controls//2,414 african american controls(p-value = 2E-26 ;OR = 2.0408163). 0.4 A large multiethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences. genome-wide association analysis NONHSAT216392.1 lncRNA Prostate cancer 0.33 ACAAATAAGA(G > A)TAATAAGGCT chr8: 127064901 0.9926,0.007388 0.98464576962283384,0.01535423037716615 Region score:0.37; TSS score:0.25; Unmatched score:0.05; Average GERP:-0.13076237623762377 GeneName:PCAT1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253438; TranscriptID:ENST00000644627; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002018 27863252 NONHSAT189066.1 rs259981 A N/A 171,643 european ancestry individuals EFO_0004587 N/A Associate Lymphocyte counts rs259981-A of NONHSAT189066.1 is significantly associated with the lymphocyte counts by using GWAS analysis in 171,643 european ancestry individuals(p-value = 1E-10 ;OR = 0.0243979). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT189066.1 lncRNA Lymphocyte count 0.33 GCACCATTAA(T > A)TTTTTTGTTT chr20: 59173314 0.4445,0.5555 0.49935493119266055,0.50064506880733944 Region score:0.33; TSS score:0.33; Unmatched score:0.08; Average GERP:-0.022690099009900967 GeneName:ZNF831; CADD-Score:2; Consquence:intron; GeneID:ENSG00000124203; TranscriptID:ENST00000637017; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002019 29039586 miR-499a rs3746444 A Recessive 46 volunteers diagnosed with atherosclerosis EFO_0003914 N/A Increasing risk Atherosclerosis rs3746444-A of miR-499a and its dysfunction is significantly associated with the increasing risk of atherosclerosis by using analysis of sequence variation in 46 volunteers diagnosed with atherosclerosis. By using the disease cell lines or tissues, the mutation of miR-499a has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 A single nucleotide polymorphism located in microRNA-499a causes loss of function resulting in increased expression of osbpl1a and reduced serum HDL level. analysis of sequence variation; Function hsa-mir-499a miRNA Atherosclerosis 0.593 CCACGTGAAC(A > G)TCACAGCAAG chr20: 34990448 0.8165,0.1835 0.81708715596330275,0.18291284403669724 Region score:0.79; TSS score:0.85; Unmatched score:0.95; Average GERP:3.757564356435645 GeneName:MIR499A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207635; TranscriptID:ENST00000384903; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR499B; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283441; TranscriptID:ENST00000636498; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYH7B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000078814; TranscriptID:ENST00000262873; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002020 29773352 ANRIL rs1537375 T N/A 200 atherothrombotic stroke cases and 205 controls EFO_1001976 N/A no significance for risk atherothrombotic stroke rs1537375-T of ANRIL and its dysfunction is not significantly associated with Cardioembolic stroke by using case-control analysis in 200 atherothrombotic stroke cases and 205 controls -0.4 The ANRIL Genetic Variants and Their Interactions with Environmental Risk Factors on Atherothrombotic Stroke in a Han Chinese Population. case-control analysis ANRIL lncRNA Cardioembolic stroke -0.33 TTAGCTTCTT(T > C,G)ATCTCTTTCC chr9: 22116072 0.386,0.614,. 0.41438901630988786,0.58557912844036697,0.00003185524974515 Region score:0.33; TSS score:0.18; Unmatched score:0.29; Average GERP:0.8177821782178218 GeneName:CDKN2B-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000240498; TranscriptID:ENST00000428597; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01909; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277653; TranscriptID:ENST00000617921; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002021 22491018 NONHSAT166399.1 rs9604529 ? N/A 1,157 european and other ancestry rheumatoid arthritis cases; 526 european and other ancestry rheumatoid arthritis cases EFO_0000685 tocilizumab Associate Response to tocilizumab in rheumatoid arthritis rs9604529-? of NONHSAT166399.1 is significantly associated with the response to tocilizumab in rheumatoid arthritis by using GWAS analysis in 1,157 european and other ancestry rheumatoid arthritis cases; 526 european and other ancestry rheumatoid arthritis cases(p-value = 7E-7 ;OR = 0.35). 0.4 Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis. genome-wide association analysis NONHSAT166399.1 lncRNA Rheumatoid arthritis 0.33 GCACCTGGAA(A > G,T)CTCCAAAGAG chr13: 113919624 0.7869,0.2131,. 0.74968941131498470,0.25029466106014271,0.00001592762487257 Region score:0.33; TSS score:0.32; Unmatched score:0.42; Average GERP:-0.5809534653465348 GeneName:LINC00452; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000229373; TranscriptID:ENST00000426859; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0415; mirSVR-E:-20.51 | NCRV0000002022 28073927 NONHSAT218402.1 rs117598310 T N/A 20,353 european ancestry individuals//2,131 erasmus rucphen (founder/genetic isolate) individuals; 7,333 asian ancestry individuals EFO_0004190 N/A Associate Optic cup area rs117598310-T of NONHSAT218402.1 is significantly associated with the optic cup area by using GWAS analysis in 20,353 european ancestry individuals//2,131 erasmus rucphen (founder/genetic isolate) individuals; 7,333 asian ancestry individuals(p-value = 1E-8 ;OR = 0.031). 0.4 New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics. genome-wide association analysis NONHSAT218402.1 lncRNA Open-angle glaucoma 0.33 CCCAGTAGCC(G > A,T)GGCGCACGCC chr8: 75086861 0.9249,.,0.07508 0.91621272935779816,.,0.08378727064220183 Region score:0.34; TSS score:0.1; Unmatched score:0.01; Average GERP:0.04821782178217824 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002023 20100581 NONHSAT179793.1 rs429358 ? N/A 175 european ancestry alzheimer cases//354 european ancestry amnestic mild cognitive impairment cases//204 european ancestry controls EFO_0004346 N/A Associate Brain imaging rs429358-? of NONHSAT179793.1 is significantly associated with the brain imaging by using GWAS analysis in 175 european ancestry alzheimer cases//354 european ancestry amnestic mild cognitive impairment cases//204 european ancestry controls(p-value = 1E-7 ;OR = ?). 0.4 Whole genome association study of brain-wide imaging phenotypes for identifying quantitative trait loci in MCI and AD: A study of the ADNI cohort. genome-wide association analysis NONHSAT179793.1 lncRNA Neuroimaging measurement 0.33 GGAGGACGTG(T > C)GCGGCCGCCT chr19: 44908684 0.8494,0.1506 0.84440303261977573,0.15559696738022426 Region score:0.28; TSS score:0.39; Unmatched score:0.64; Average GERP:1.473687128712871 GeneName:AC011481.3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000280087; TranscriptID:ENST00000623895; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:APOE; CADD-Score:7; Consquence:missense; GeneID:ENSG00000130203; TranscriptID:ENST00000252486; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TOMM40; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000130204; TranscriptID:ENST00000252487; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002024 27863252 NONHSAT152168.1 rs34754277 C N/A 170,548 european ancestry individuals EFO_0007986 N/A Associate Immature fraction of reticulocytes rs34754277-C of NONHSAT152168.1 is significantly associated with the immature fraction of reticulocytes by using GWAS analysis in 170,548 european ancestry individuals(p-value = 6E-15 ;OR = 0.03711069). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT152168.1 lncRNA Reticulocyte count 0.33 CGCTATGTTA(T > C)GAATGGATGG chr1: 117605270 0.8698,0.1302 0.86632740825688073,0.13367259174311926 Region score:0.13; TSS score:0.52; Unmatched score:0.85; Average GERP:-1.6806633663366333 GeneName:AL157902.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000236866; TranscriptID:ENST00000425010; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000370262; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TENT5C; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000183508; TranscriptID:ENST00000369448; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002025 26502338 NONHSAT055887.2 rs959260 A N/A 5,201 european ancestry cases//9,066 european ancestry controls; 2,018 european ancestry cases//6,925 european ancestry controls EFO_0002690 N/A Associate Systemic lupus erythematosus rs959260-A of NONHSAT055887.2 is significantly associated with the systemic lupus erythematosus by using GWAS analysis in 5,201 european ancestry cases//9,066 european ancestry controls; 2,018 european ancestry cases//6,925 european ancestry controls(p-value = 3E-6 ;OR = 1.14). 0.4 Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus. genome-wide association analysis NONHSAT055887.2 lncRNA Systemic lupus erythematosus 0.33 TTTCACAGAA(C > T)GTCAAAGAAG chr17: 75373341 0.3628,0.6372 0.35064666156982670,0.64935333843017329 Region score:0.33; TSS score:0.27; Unmatched score:0.37; Average GERP:-0.8187346534653461 GeneName:AC011933.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000264853; TranscriptID:ENST00000578539; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC011933.4; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000265987; TranscriptID:ENST00000585081; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GRB2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000177885; TranscriptID:ENST00000392562; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002026 27374108 miR-429 rs9660710 A Dominant 1341 non-small cell lung cancer (nsclc) cases and 1982 controls EFO_0003060 N/A Increasing risk Non-small cell lung cancer rs9660710-A of miR-429 and its dysfunction is significantly associated with the increasing risk of non-small cell lung cancer by using case-control analysis in 1341 non-small cell lung cancer (NSCLC) cases and 1982 controls. 0.4 Genetic variants in regulatory regions of microRNAs are associated with lung cancer risk. case-control analysis hsa-mir-429 miRNA Non-small cell lung cancer 0.33 GTCTCTCGTG(A > C,T)GGTTTTTTAC chr1: 1163962 0.1701,0.8299,. 0.12792271916411824,0.86937754841997961,0.00269973241590214 Region score:0.36; TSS score:0.46; Unmatched score:0.44; Average GERP:-1.8039633663366341 GeneName:MIR200A; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207607; TranscriptID:ENST00000384875; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR200B; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207730; TranscriptID:ENST00000384997; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000344515; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002027 25811787 NONHSAT200026.1 rs1155866 G N/A up to 15,007 european ancestry male individuals//up to 16,943 european ancestry female individuals EFO_0004531 N/A Associate Urate levels (bmi interaction) rs1155866-G of NONHSAT200026.1 is significantly associated with the urate levels (bmi interaction) by using GWAS analysis in up to 15,007 european ancestry male individuals//up to 16,943 european ancestry female individuals(p-value = 2E-6 ;OR = 0.013509792). 0.4 Modulation of genetic associations with serum urate levels by body-mass-index in humans. genome-wide association analysis NONHSAT200026.1 lncRNA Urate measurement 0.33 CTGATGTTGC(T > A,G)GTGGCTTTTC chr4: 66868185 0.5074,.,0.4926 0.52029179408766564,0.00061321355759429,0.47909499235474006 Region score:0.35; TSS score:0.31; Unmatched score:0.12; Average GERP:1.442603960396039 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002028 26343869 NONHSAT168412.1 rs2985684 ? N/A 810 chinese ancestry individuals EFO_0007117 N/A Associate Carotid intima media thickness rs2985684-? of NONHSAT168412.1 is significantly associated with the carotid intima media thickness by using GWAS analysis in 810 chinese ancestry individuals(p-value = 2E-6 ;OR = ?). 0.4 Genome-wide association study on progression of carotid artery intima media thickness over 10 years in a Chinese cohort. genome-wide association analysis NONHSAT168412.1 lncRNA Carotid artery intima media thickness 0.33 CCACCCCGCG(C > A,G,T)TCACGCTCTA chr14: 49634964 0.5068,.,0.4932,. 0.37188614933741080,.,0.62808199541284403,0.00003185524974515 Region score:0.23; TSS score:0.44; Unmatched score:0.79; Average GERP:2.9698415841584147 GeneName:DNAAF2; CADD-Score:5; Consquence:synonymous; GeneID:ENSG00000165506; TranscriptID:ENST00000298292; AnnoType:SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:DNAAF2; CADD-Score:7; Consquence:missense; GeneID:ENSG00000165506; TranscriptID:ENST00000298292; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000068038; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000496619; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002029 26830138 NONHSAT209526.1 rs140633572 A N/A 2,478 european ancestry cases//979 ancestry controls both from the same 1,070 families EFO_0000249 N/A Associate Alzheimer disease and age of onset rs140633572-A of NONHSAT209526.1 is significantly associated with the alzheimer disease and age of onset by using GWAS analysis in 2,478 european ancestry cases//979 ancestry controls both from the same 1,070 families(p-value = 5E-7 ;OR = 5.03). 0.4 Family-based association analyses of imputed genotypes reveal genome-wide significant association of Alzheimer's disease with OSBPL6, PTPRG, and PDCL3. genome-wide association analysis NONHSAT209526.1 lncRNA Alzheimers disease 0.33 ATCTTGGCTC(A > G)CTGCAACTTC chr6: 106832060 0.9655,0.03454 0.94599738786952089,0.05400261213047910 Region score:0.36; TSS score:0.19; Unmatched score:0.08; Average GERP:-0.0447029702970297 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000800729; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002030 20842445 hsa-mir499 rs3746444 C N/a 159 prostate cancer patients and 230 matched controls EFO_0001663 N/A Increasing risk Prostate cancer rs3746444-C of hsa-mir499 and its dysfunction is significantly associated with the increasing risk of prostate cancer by using case-control analysis in 159 prostate cancer patients and 230 matched controls. 0.4 Genetic variation in microRNA genes and prostate cancer risk in North Indian population. case-control analysis hsa-mir-499a miRNA Prostate cancer 0.181 CCACGTGAAC(A > G)TCACAGCAAG chr20: 34990448 0.8165,0.1835 0.81708715596330275,0.18291284403669724 Region score:0.79; TSS score:0.85; Unmatched score:0.95; Average GERP:3.757564356435645 GeneName:MIR499A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207635; TranscriptID:ENST00000384903; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR499B; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283441; TranscriptID:ENST00000636498; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYH7B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000078814; TranscriptID:ENST00000262873; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002030 30001553 miR-499 rs3746444 G Dominant 2,227 prostate cancer patients and 2,331 control subjects EFO_0001663 N/A Increasing risk Prostate cancer rs3746444-G of miR-499 and its dysfunction is significantly associated with the increasing risk of prostate cancer by using meta-analysis in 2,227 prostate cancer patients and 2,331 control subjects. 0.4 The Association Between Three Genetic Variants in MicroRNAs (Rs11614913, Rs2910164, Rs3746444) and Prostate Cancer Risk. meta-analysis hsa-mir-499a miRNA Prostate cancer 0.181 CCACGTGAAC(A > G)TCACAGCAAG chr20: 34990448 0.8165,0.1835 0.81708715596330275,0.18291284403669724 Region score:0.79; TSS score:0.85; Unmatched score:0.95; Average GERP:3.757564356435645 GeneName:MIR499A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207635; TranscriptID:ENST00000384903; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR499B; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283441; TranscriptID:ENST00000636498; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYH7B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000078814; TranscriptID:ENST00000262873; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002030 26112096 miR-499 rs3746444 T N/A 355 samples of peripheral blood were obtained from the patients with PCa and 353 samples from patients with benign prostatic hyperplasia (BPH).312 volunteers derived from general population who gave samples of buccal swabs were included in the control group. EFO_0001663 N/A no significance for risk prostate carcinoma rs3746444-T of hsa-mir-499a and its dysfunction is not significantly associated with Prostate carcinoma by using case-control analysis in 355 samples of peripheral blood were obtained from the patients with PCa and 353 samples from patients with benign prostatic hyperplasia (BPH).312 volunteers derived from general population who gave samples of buccal swabs were included in the control group. -0.4 Assessment of association between genetic variants in microRNA genes hsa-miR-499, hsa-miR-196a2 and hsa-miR-27a and prostate cancer risk in Serbian population. case-control analysis hsa-mir-499a miRNA Prostate carcinoma 0.181 CCACGTGAAC(A > G)TCACAGCAAG chr20: 34990448 0.8165,0.1835 0.81708715596330275,0.18291284403669724 Region score:0.79; TSS score:0.85; Unmatched score:0.95; Average GERP:3.757564356435645 GeneName:MIR499A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207635; TranscriptID:ENST00000384903; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR499B; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283441; TranscriptID:ENST00000636498; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYH7B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000078814; TranscriptID:ENST00000262873; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002031 27197292 piR-3266 rs35712968 ? N/a 1,840 glioma cases and 2,401 controls EFO_0005543 N/A Decreasing risk Glioma rs35712968-? of piR-3266 and its dysfunction is significantly associated with the decreasing risk of glioma by using genome-wide association analysis in 1,840 glioma cases and 2,401 controls. 0.4 PIWI-Interacting RNAs in Gliomagenesis: Evidence from Post-GWAS and Functional Analyses. genome-wide association analysis piR-3266 piRNA Glioma 0.33 GAAAACAGAG(G > T)ATACTACTGG chr10: 98459505 0.9625,0.03754 0.95056861620795107,0.04943138379204892 Region score:0.6; TSS score:0.72; Unmatched score:0.82; Average GERP:1.5494059405940592 GeneName:HPSE2; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000172987; TranscriptID:ENST00000370552; AnnoType:3PRIME_UTR; mirSVR-Score:-0.5979; mirSVR-E:-13.56 | NCRV0000002032 29059430 NONHSAT009441.2 rs4342822 G N/A 131 european ancestry cases//493 european ancestry controls EFO_0000305 treated with more than 10 gray radiotherapy Associate Breast cancer in childhood cancer survivors treated with more than 10 gray radiotherapy rs4342822-G of NONHSAT009441.2 is significantly associated with the breast cancer in childhood cancer survivors treated with more than 10 gray radiotherapy by using GWAS analysis in 131 european ancestry cases//493 european ancestry controls(p-value = 7E-9 ;OR = 1.92). 0.4 Genome-Wide Association Study to Identify Susceptibility Loci That Modify Radiation-Related Risk for Breast Cancer After Childhood Cancer.LID - 10.1093/jnci/djx058 [doi]AB - Background: Childhood cancer survivors treated with chest-directed rad genome-wide association analysis NONHSAT009441.2 lncRNA Breast cancer 0.33 TCACAATCTA(G > T)TTAGCTGATT chr1: 213850882 0.3035,0.6965 0.36746623343527013,0.63253376656472986 Region score:0.3; TSS score:0.05; Unmatched score:0.01; Average GERP:0.10756039603960399 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000386057; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PROX1-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000230461; TranscriptID:ENST00000433082; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002033 23897914 NONHSAT172132.1 rs10162694 A N/A 117 african american newborn cases//108 african american newborn controls//448 hispanic newborn cases//460 hispanic newborn controls//74 asian or pacific islander ancestry newborn cases//93 asian or pacific islander ancestry newborn controls//174 european ancestry newborn cases//216 european ancestry newborn controls//14 newborn cases//22 newborn controls; 371 newborn cases//424 newborn controls Orphanet_70589 N/A Associate Bronchopulmonary dysplasia rs10162694-A of NONHSAT172132.1 is significantly associated with the bronchopulmonary dysplasia by using GWAS analysis in 117 african american newborn cases//108 african american newborn controls//448 hispanic newborn cases//460 hispanic newborn controls//74 asian or pacific islander ancestry newborn cases//93 asian or pacific islander ancestry newborn controls//174 european ancestry newborn cases//216 european ancestry newborn controls//14 newborn cases//22 newborn controls; 371 newborn cases//424 newborn controls(p-value = 9E-6 ;OR = 1.55). 0.4 A genome-wide association study (GWAS) for bronchopulmonary dysplasia. genome-wide association analysis NONHSAT172132.1 lncRNA Bronchopulmonary dysplasia 0.33 GTAAAAATAC(C > A)AATTTTTCAT chr15: 35054340 0.9419,0.05811 0.96062691131498470,0.03937308868501529 Region score:0.47; TSS score:0.23; Unmatched score:0.05; Average GERP:-0.013594059405940538 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000512303; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002034 27863252 NONHSAT197522.1 rs11359909 A N/A 172,435 european ancestry individuals EFO_0004308 N/A Associate White blood cell count rs11359909-A of NONHSAT197522.1 is significantly associated with the white blood cell count by using GWAS analysis in 172,435 european ancestry individuals(p-value = 1E-13 ;OR = 0.04348204). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT197522.1 lncRNA Leukocyte count 0.33 TAGGAAGCAG(AG > A)GGGGGGACCC chr3: 128603030 N/A 0.11369935015290519,0.88630064984709480 N/A GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002035 27863252 NONHSAT200257.1 rs7679673 A N/A 169,822 european ancestry individuals EFO_0007987 N/A Associate Granulocyte count rs7679673-A of NONHSAT200257.1 is significantly associated with the granulocyte count by using GWAS analysis in 169,822 european ancestry individuals(p-value = 1E-10 ;OR = 0.02369403). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT200257.1 lncRNA Granulocyte count 0.33 ATTTTTGACA(C > A)AACTCTATCA chr4: 105140377 0.4083,0.5917 0.48941609327217125,0.51058390672782874 Region score:0.14; TSS score:0.18; Unmatched score:0.43; Average GERP:-0.9553586138613857 GeneName:AC004069.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000251259; TranscriptID:ENST00000504082; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000171428; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002036 28604728 NONHSAT151091.1 rs4240895 T N/A 5,518 european ancestry cases//19,055 european ancestry controls; 1,801 european ancestry cases//4,027 european ancestry controls EFO_1000566 N/A Associate Testicular germ cell tumor rs4240895-T of NONHSAT151091.1 is significantly associated with the testicular germ cell tumor by using GWAS analysis in 5,518 european ancestry cases//19,055 european ancestry controls; 1,801 european ancestry cases//4,027 european ancestry controls(p-value = 6E-13 ;OR = 1.14). 0.4 Identification of 19 new risk loci and potential regulatory mechanisms influencing susceptibility to testicular germ cell tumor. genome-wide association analysis NONHSAT151091.1 lncRNA Testicular germ cell tumor 0.33 GTGATTTCAG(C > T)TGGACAACTG chr1: 9653328 0.3305,0.6695 0.46342220948012232,0.53657779051987767 Region score:0.42; TSS score:0.56; Unmatched score:0.84; Average GERP:-0.436860891089109 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000346806; AnnoType:REGULATORY; mirSVR-Score:-0.8114; mirSVR-E:-15.15 | GeneName:PIK3CD-AS1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000179840; TranscriptID:ENST00000377320; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.8114; mirSVR-E:-15.15 | GeneName:PIK3CD; CADD-Score:2; Consquence:intron; GeneID:ENSG00000171608; TranscriptID:ENST00000377346; AnnoType:INTRONIC; mirSVR-Score:-0.8114; mirSVR-E:-15.15 | NCRV0000002037 28240269 NONHSAT176910.1 rs854462 ? N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0008046 N/A Associate Blood protein levels rs854462-? of NONHSAT176910.1 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 3E-47 ;OR = ?). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. genome-wide association analysis NONHSAT176910.1 lncRNA C-c motif chemokine 18 measurement 0.33 AAGGCAGAAG(A > G)GATGACACTC chr17: 36058726 0.2887,0.7113 0.75164850917431192,0.24835149082568807 Region score:0.49; TSS score:0.38; Unmatched score:0.35; Average GERP:-1.264092376237624 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000554279; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002038 23251661 NONHSAT211587.1 rs314590 G N/A 815 hispanic children from 263 families EFO_0004620 N/A Associate Obesity-related traits rs314590-G of NONHSAT211587.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 4E-6 ;OR = 0.02). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. genome-wide association analysis NONHSAT211587.1 lncRNA Vitamin b12 measurement 0.33 CCGGCAGCAA(G > A)GCCAGAAGGT chr7: 4434501 0.1448,0.8552 0.10105281600407747,0.89894718399592252 Region score:0.24; TSS score:0.26; Unmatched score:0.12; Average GERP:-1.3980035643564357 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002039 28159929 HOTAIR rs4759314 G N/A several case-control studies EFO_0000311 N/A increasing risk cancer rs4759314-G of HOTAIR and its dysfunction is significantly associated with the increasing risk of Cancer by using meta-analysis in several case-control studies 0.4 The HOTAIR, PRNCR1 and POLR2E polymorphisms are associated with cancer risk: a meta-analysis. meta-analysis HOTAIR lncRNA Cancer -0.181 AAACAGGCCA(G > A)GCGGATGCAA chr12: 53968051 0.09505,0.905 0.06856046126401630,0.93143953873598369 Region score:0.43; TSS score:0.68; Unmatched score:0.83; Average GERP:2.8445544554455457 GeneName:AC012531.4; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000274817; TranscriptID:ENST00000616509; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC012531.5; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277129; TranscriptID:ENST00000611375; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOTAIR; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000228630; TranscriptID:ENST00000424518; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000458643; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01905; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000275589; TranscriptID:ENST00000611210; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01906; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000277994; TranscriptID:ENST00000611352; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002039 27010768 HOTAIR rs4759314 G N/A 7,151 cases and 8,740 controls EFO_0000311 N/A no significance for risk cancer rs4759314-G of HOTAIR and its dysfunction is not significantly associated with Cancer by using meta-analysis in 7,151 cases and 8,740 controls -0.4 Quantitative Assessment of the Polymorphisms in the HOTAIR lncRNA and Cancer Risk: A Meta-Analysis of 8 Case-Control Studies. meta-analysis HOTAIR lncRNA Cancer -0.181 AAACAGGCCA(G > A)GCGGATGCAA chr12: 53968051 0.09505,0.905 0.06856046126401630,0.93143953873598369 Region score:0.43; TSS score:0.68; Unmatched score:0.83; Average GERP:2.8445544554455457 GeneName:AC012531.4; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000274817; TranscriptID:ENST00000616509; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC012531.5; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277129; TranscriptID:ENST00000611375; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOTAIR; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000228630; TranscriptID:ENST00000424518; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000458643; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01905; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000275589; TranscriptID:ENST00000611210; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01906; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000277994; TranscriptID:ENST00000611352; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002039 27965458 HOTAIR rs4759314 G N/A 11 case-control studies EFO_0000311 N/A no significance for risk cancer rs4759314-G of HOTAIR and its dysfunction is not significantly associated with Cancer by using meta-analysis in 11 case-control studies -0.4 Association between the HOTAIR polymorphisms and cancer risk: an updated meta-analysis. meta-analysis HOTAIR lncRNA Cancer -0.181 AAACAGGCCA(G > A)GCGGATGCAA chr12: 53968051 0.09505,0.905 0.06856046126401630,0.93143953873598369 Region score:0.43; TSS score:0.68; Unmatched score:0.83; Average GERP:2.8445544554455457 GeneName:AC012531.4; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000274817; TranscriptID:ENST00000616509; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC012531.5; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277129; TranscriptID:ENST00000611375; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOTAIR; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000228630; TranscriptID:ENST00000424518; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000458643; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01905; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000275589; TranscriptID:ENST00000611210; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01906; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000277994; TranscriptID:ENST00000611352; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002040 27601451 11p15.1 rs75715012 A Dominant 16,415 Hispanic/Latino individuals EFO_0006343 N/A increasing risk chronic periodontitis rs75715012-A of 11p15.1 and its dysfunction is significantly associated with the increasing risk of Chronic periodontitis by using genome-wide association analysis in 16,415 Hispanic/Latino individuals 0.4 Chronic Periodontitis Genome-wide Association Study in the Hispanic Community Health Study / Study of Latinos. genome-wide association analysis 11p15.1 Noncoding region Chronic periodontitis 0.33 CCCAAAACTA(G > A)CACTGCTGGC chr11: 21627604 0.9119,0.08806 0.88958970438328236,0.11041029561671763 Region score:0.47; TSS score:0.37; Unmatched score:0.07; Average GERP:-1.1350027722772273 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002041 28017375 NONHSAT207026.1 rs13219787 ? N/A up to 29,946 european ancestry individuals//up to 6150 african american individuals//15,074 east asian individuals.; 16,389 individuals of european and african american ancestry. EFO_0004526 N/A Associate Mean corpuscular volume rs13219787-? of NONHSAT207026.1 is significantly associated with the mean corpuscular volume by using GWAS analysis in up to 29,946 european ancestry individuals//up to 6150 african american individuals//15,074 east asian individuals.; 16,389 individuals of european and african american ancestry.(p-value = 1E-9 ;OR = ?). 0.4 Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis. genome-wide association analysis NONHSAT207026.1 lncRNA Mean corpuscular volume 0.33 AGCCACTCAC(G > A,T)CTTCCAGAGA chr6: 27893892 N/A 0.95713079765545361,0.04268603465851172,0.00018316768603465 Region score:0.31; TSS score:0.46; Unmatched score:0.82; Average GERP:-0.40989306930693065 GeneName:HIST1H2AM; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000278677; TranscriptID:ENST00000359611; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HIST1H2BO; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000274641; TranscriptID:ENST00000616182; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HIST1H3J; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000197153; TranscriptID:ENST00000359303; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000195186; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RNU7-26P; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000238610; TranscriptID:ENST00000458980; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002042 29141248 HOTAIR rs1899663 T N/a 482 hepatocellular carcinoma cases and 520 control subjects in a chinese population EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs1899663-T of HOTAIR and its dysfunction is not significantly associated with hepatocellular carcinoma by using case-control analysis in 482 hepatocellular carcinoma cases and 520 control subjects in a chinese population. -0.4 Association of Functional Genetic Variants of HOTAIR with Hepatocellular Carcinoma (HCC) Susceptibility in a Chinese Population. case-control analysis HOTAIR lncRNA Hepatocellular cancer -0.33 TTGTTGTCAC(C > A)TCCACCCTCC chr12: 53967210 0.7462,0.2538 0.72418132008154943,0.27581867991845056 Region score:0.22; TSS score:0.34; Unmatched score:0.86; Average GERP:-0.48725445544554463 GeneName:AC012531.4; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000274817; TranscriptID:ENST00000616509; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC012531.5; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277129; TranscriptID:ENST00000611375; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOTAIR; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000228630; TranscriptID:ENST00000424518; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000458643; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01905; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000275589; TranscriptID:ENST00000611210; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01906; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000277994; TranscriptID:ENST00000611352; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002043 22699663 NONHSAT181463.1 rs1011108 T N/A 1,020 european ancestry individuals EFO_0000649 N/A Associate Periodontal microbiota rs1011108-T of NONHSAT181463.1 is significantly associated with the periodontal microbiota by using GWAS analysis in 1,020 european ancestry individuals(p-value = 2E-6 ;OR = 1.79). 0.4 Genome-wide association study of periodontal pathogen colonization. genome-wide association analysis NONHSAT181463.1 lncRNA Periodontitis 0.33 TCTCATCTTA(C > T)TGAGTCCTGG chr2: 26559753 0.7426,0.2574 0.71131976299694189,0.28868023700305810 Region score:0.31; TSS score:0.5; Unmatched score:0.67; Average GERP:-0.48125940594059397 GeneName:C2orf70; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000173557; TranscriptID:ENST00000329615; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000600379; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:OTOF; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000115155; TranscriptID:ENST00000272371; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002044 23928854 miR-196a rs11614913 T N/a 209 acute anterior uveitis with ankylosing spondylitis patients and 1,685 controls all belonging to a chinese han population EFO_0003898 N/A No significance for risk Ankylosing spondylitis rs11614913-T of miR-196a and its dysfunction is not significantly associated with ankylosing spondylitis by using case-control analysis in 209 acute anterior uveitis with ankylosing spondylitis patients and 1,685 controls all belonging to a Chinese Han population. -0.4 A functional variant of pre-miRNA-196a2 confers risk for Behcet's disease but not for Vogt-Koyanagi-Harada syndrome or AAU in ankylosing spondylitis. case-control analysis hsa-mir-196a-2 miRNA Ankylosing spondylitis -0.33 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002045 26034056 NONHSAT216397.1 rs11986220 A N/A 6,406 european ancestry cases//601 african american cases//288 east asian ancestry cases//488 latino cases30,866 european ancestry controls//1,650 african american controls//2,938 east asian ancestry controls//3,141 latino controls; 4,599 european ancestry cases//2,265 african american cases//2,940 european ancestry controls//2,414 african american controls EFO_0001663 N/A Associate Prostate cancer rs11986220-A of NONHSAT216397.1 is significantly associated with the prostate cancer by using GWAS analysis in 6,406 european ancestry cases//601 african american cases//288 east asian ancestry cases//488 latino cases30,866 european ancestry controls//1,650 african american controls//2,938 east asian ancestry controls//3,141 latino controls; 4,599 european ancestry cases//2,265 african american cases//2,940 european ancestry controls//2,414 african american controls(p-value = 2E-40 ;OR = 1.56). 0.4 A large multiethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences. genome-wide association analysis NONHSAT216397.1 lncRNA Prostate cancer 0.33 GAGGAAAAAA(A > G,T)TAAATAAAAA chr8: 127519444 0.09904,.,0.901 0.01667622324159021,0.06947629969418960,0.91384747706422018 Region score:0.24; TSS score:0.08; Unmatched score:0.03; Average GERP:0.09653846153846167 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002046 20364137 NONHSAT218220.1 rs1504749 C N/A 2,780 european ancestry cases//12,515 european ancestry controls; 3,111 japanese ancestry cases//1,666 japanese ancestry controls EFO_0003870 N/A Associate Intracranial aneurysm rs1504749-C of NONHSAT218220.1 is significantly associated with the intracranial aneurysm by using GWAS analysis in 2,780 european ancestry cases//12,515 european ancestry controls; 3,111 japanese ancestry cases//1,666 japanese ancestry controls(p-value = 5E-7 ;OR = 1.17). 0.4 Genome-wide association study of intracranial aneurysm identifies three new risk loci. genome-wide association analysis NONHSAT218220.1 lncRNA Brain aneurysm 0.33 CCTCAAATGT(A > C)TCACCTCCCC chr8: 54398151 0.6168,0.3832 0.69675395005096839,0.30324604994903160 Region score:0.37; TSS score:0.24; Unmatched score:0.1; Average GERP:-0.17138118811881178 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002047 19079260 NONHSAT186578.1 rs7561317 G N/A 72,598 european ancestry individuals//1,160 african american individuals; up to 11,036 european ancestry individuals//32,615 individuals EFO_0001073 N/A Associate Body mass index rs7561317-G of NONHSAT186578.1 is significantly associated with the body mass index by using GWAS analysis in 72,598 european ancestry individuals//1,160 african american individuals; up to 11,036 european ancestry individuals//32,615 individuals(p-value = 4E-17 ;OR = 6.12). 0.4 Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity. genome-wide association analysis NONHSAT186578.1 lncRNA Obesity 0.33 ACTTCCTGTC(A > G)TCTGCCTACA chr2: 644953 0.1615,0.8385 0.18614615188583078,0.81385384811416921 Region score:0.17; TSS score:0.14; Unmatched score:0.06; Average GERP:-1.3132970297029702 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000594668; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002048 22778062 SNORD115-25 rs56227008 A N/a N/a function N/A Not significant changes in the structure Function rs56227008-A of SNORD115-25 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD115-25 snoRNA Function -0.049 TGGGTTAGGT(C > A,T)GATTATGAGA chr15: 25215545 N/A 0.99994425331294597,.,0.00005574668705402 Region score:0.49; TSS score:0.11; Unmatched score:0.52; Average GERP:-0.2394403960396037 GeneName:SNHG14; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000224078; TranscriptID:ENST00000424333; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0158; mirSVR-E:-10.52 | GeneName:SNORD115-23; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000201331; TranscriptID:ENST00000364461; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0158; mirSVR-E:-10.52 | GeneName:SNORD115-24; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000200398; TranscriptID:ENST00000363528; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0158; mirSVR-E:-10.52 | GeneName:SNORD115-25; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000199489; TranscriptID:ENST00000362619; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0158; mirSVR-E:-10.52 | GeneName:SNORD115-26; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000275524; TranscriptID:ENST00000365067; AnnoType:UPSTREAM; mirSVR-Score:-0.0158; mirSVR-E:-10.52 | GeneName:SNORD115-27; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000201300; TranscriptID:ENST00000364430; AnnoType:UPSTREAM; mirSVR-Score:-0.0158; mirSVR-E:-10.52 | NCRV0000002049 26198764 NONHSAT192657.1 rs1974653 A N/A 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls EFO_0000692 N/A Associate Schizophrenia rs1974653-A of NONHSAT192657.1 is significantly associated with the schizophrenia by using GWAS analysis in 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls(p-value = 8E-6 ;OR = 1.06). 0.4 Genome-wide association study of schizophrenia in Ashkenazi Jews. genome-wide association analysis NONHSAT192657.1 lncRNA Schizophrenia 0.33 CTGTGGGGGC(C > A,T)GCTGAACCTG chr22: 20146827 0.8654,0.1346,. 0.84748502803261977,0.15243533384301732,0.00007963812436289 Region score:0.39; TSS score:0.51; Unmatched score:0.7; Average GERP:-2.0039475247524745 GeneName:CCDC188; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000234409; TranscriptID:ENST00000439765; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000666706; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000666708; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ZDHHC8; CADD-Score:2; Consquence:intron; GeneID:ENSG00000099904; TranscriptID:ENST00000405930; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002050 25187983 miR-223 rs34952329 T N/a 1,098 individuals, includiing 491 patients were recruited from the souza ara篓虏jo outpatient unit, located at funda??o oswaldo cruz (fiocruz), rio de janeiro, brazil. the data for 607 controls was obtained from a bone marrow donors' bank in rio de janeiro comprising of samples from local healthy individuals. EFO_0001054 N/A No significance for risk Leprosy rs34952329-T of miR-223 and its dysfunction is not significantly associated with leprosy by using case-control analysis in 1,098 individuals, includiing 491 patients were recruited from the Souza Ara篓虏jo outpatient unit, located at Funda??o Oswaldo Cruz (FIOCRUZ), Rio de Janeiro, Brazil. The data for 607 controls was obtained from a bone marrow donors' bank in Rio de Janeiro comprising of samples from local healthy individuals -0.4 Pre-miR-146a (rs2910164 G>C) single nucleotide polymorphism is genetically and functionally associated with leprosy. case-control analysis hsa-mir-223 miRNA Leprosy -0.33 AGTTGGACAC(T > TC)CCATGTGGTA chrX: 66018923 N/A RS=34952329;RSPOS=66018925;dbSNPBuildID=126;SSR=0;SAO=0;VP=0x050028000005000002000200;GENEINFO=MIR223:407008;WGT=1;VC=DIV;PM;PMC;ASP N/A GeneName:AL034397.3; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000274536; TranscriptID:ENST00000621933; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR223; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000284567; TranscriptID:ENST00000385204; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:VSIG4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000155659; TranscriptID:ENST00000374737; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002051 29221444 NONHSAT172027.1 rs7495211 ? N/A 345 african american cases//346 african american controls; 137 african american cases//68 african american controls EFO_0004723 N/A Associate Coronary artery calcified atherosclerotic plaque (130 hu threshold) in type 2 diabetes rs7495211-? of NONHSAT172027.1 is significantly associated with the coronary artery calcified atherosclerotic plaque (130 hu threshold) in type 2 diabetes by using GWAS analysis in 345 african american cases//346 african american controls; 137 african american cases//68 african american controls(p-value = 7E-6 ;OR = 0.268). 0.4 Genome-wide association study of coronary artery calcified atherosclerotic plaque in African Americans with type 2 diabetes. genome-wide association analysis NONHSAT172027.1 lncRNA Coronary artery calcification 0.33 GGACCCAGAA(C > T)CAAAACAGGG chr15: 98016526 0.368,0.632 0.45071992864424057,0.54928007135575942 Region score:0.28; TSS score:0.34; Unmatched score:0.24; Average GERP:-0.333357425742574 GeneName:LINC02251; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000258483; TranscriptID:ENST00000554798; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002052 26634245 NONHSAT196125.1 rs78274021 T N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio rs78274021-T of NONHSAT196125.1 is significantly associated with the post bronchodilator fev1/fvc ratio by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 2E-6 ;OR = 0.27). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT196125.1 lncRNA Pulmonary function measurement 0.33 CTACTAATAC(C > T)GGGAATATAG chr3: 115616672 0.9978,0.002196 0.99769845820591233,0.00230154179408766 Region score:0.33; TSS score:0.23; Unmatched score:0.06; Average GERP:-0.05610485148514851 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002053 28334935 NONHSAT186971.1 rs144403535 A N/A 12,586 hispanic/latino individuals EFO_0006334 N/A Associate Iron status biomarkers (total iron binding capacity) rs144403535-A of NONHSAT186971.1 is significantly associated with the iron status biomarkers (total iron binding capacity) by using GWAS analysis in 12,586 hispanic/latino individuals(p-value = 7E-8 ;OR = 1.095). 0.4 Genome-wide association study of iron traits and relation to diabetes in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL): potential genomic intersection of iron and glucose regulation? genome-wide association analysis NONHSAT186971.1 lncRNA Total iron binding capacity 0.33 ATGGTGGTAA(A > G)GCCAGGTCAC chr2: 62178025 0.9974,0.002596 0.99624108053007135,0.00375891946992864 Region score:0.34; TSS score:0.51; Unmatched score:0.27; Average GERP:-0.16475148514851487 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000607540; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002054 27126917 NONHSAT210379.1 rs114683528 T N/A 874 european ancestry individuals EFO_0007828 N/A Associate Daytime sleep phenotypes rs114683528-T of NONHSAT210379.1 is significantly associated with the daytime sleep phenotypes by using GWAS analysis in 874 european ancestry individuals(p-value = 1E-6 ;OR = 2.435). 0.4 Genome-wide association analysis of actigraphic sleep phenotypes in the LIFE Adult Study. genome-wide association analysis NONHSAT210379.1 lncRNA Daytime rest measurement 0.33 TGTGTTAGGA(G > A,C,T)TATTCTTCTT chr6: 28949058 0.9421,.,.,0.05791 0.94868119266055045,0.00002389143730886,0.00005574668705402,0.05123916921508664 Region score:0.17; TSS score:0.27; Unmatched score:0.45; Average GERP:0.019551136363636357 GeneName:LINC01556; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000204709; TranscriptID:ENST00000377186; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000787014; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002055 26631737 NONHSAT022909.2 rs10899033 C N/A up to 54,116 european ancestry cases HP_0012594 N/A Associate Microalbuminuria rs10899033-C of NONHSAT022909.2 is significantly associated with the microalbuminuria by using GWAS analysis in up to 54,116 european ancestry cases(p-value = 9E-6 ;OR = 0.11). 0.4 Genome-wide Association Studies Identify Genetic Loci Associated With Albuminuria in Diabetes. genome-wide association analysis NONHSAT022909.2 lncRNA Microalbuminuria 0.33 TCTGCAGACA(C > G,T)AGGGCAAATA chr11: 74682126 0.5883,0.4117,. 0.65026917686034658,0.34973082313965341,. Region score:0.28; TSS score:0.37; Unmatched score:0.29; Average GERP:-0.5229297029702971 GeneName:RN7SKP297; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000223202; TranscriptID:ENST00000411270; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002056 19079260 NONHSAT165403.1 rs7336332 G N/A 72,598 european ancestry individuals//1,160 african american individuals; up to 11,036 european ancestry individuals//32,615 individuals EFO_0004338 N/A Associate Weight rs7336332-G of NONHSAT165403.1 is significantly associated with the weight by using GWAS analysis in 72,598 european ancestry individuals//1,160 african american individuals; up to 11,036 european ancestry individuals//32,615 individuals(p-value = 1E-6 ;OR = 4.01). 0.4 Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity. genome-wide association analysis NONHSAT165403.1 lncRNA Body weight 0.33 GTTTCTGTTC(A > G)TCCATAGTAA chr13: 27484267 0.8289,0.1711 0.80561926605504587,0.19438073394495412 Region score:0.36; TSS score:0.41; Unmatched score:0.19; Average GERP:-0.5531118811881188 GeneName:RNU6-63P; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000252499; TranscriptID:ENST00000516690; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002057 22610502 NONHSAT059290.2 rs9807334 A N/A up to 512 european ancestry individuals//up to 199 african american individuals EFO_0004645 N/A Associate Immune reponse to smallpox (secreted ifn-alpha) rs9807334-A of NONHSAT059290.2 is significantly associated with the immune reponse to smallpox (secreted ifn-alpha) by using GWAS analysis in up to 512 european ancestry individuals//up to 199 african american individuals(p-value = 2E-7 ;OR = ?). 0.4 Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. genome-wide association analysis NONHSAT059290.2 lncRNA Response to vaccine 0.33 TATCAAGAGA(G > A)TGATAAAGCA chr18: 50997791 0.9746,0.02536 0.93945113404689092,0.06054886595310907 Region score:0.36; TSS score:0.09; Unmatched score:0.01; Average GERP:0.016346534653465403 GeneName:AC091551.1; CADD-Score:2; Consquence:intron,NMD; GeneID:ENSG00000267699; TranscriptID:ENST00000590722; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002058 22704111 NONHSAT075516.2 rs836589 A N/A 125 european ancestry cases//403 european ancestry controls EFO_0004234 N/A Associate Erectile dysfunction in type 1 diabetes rs836589-A of NONHSAT075516.2 is significantly associated with the erectile dysfunction in type 1 diabetes by using GWAS analysis in 125 european ancestry cases//403 european ancestry controls(p-value = 2E-6 ;OR = ?). 0.4 Pilot genome-wide association search identifies potential loci for risk of erectile dysfunction in type 1 diabetes using the DCCT/EDIC study cohort. genome-wide association analysis NONHSAT075516.2 lncRNA Erectile dysfunction 0.33 TGCCGGGCTA(A > G)TAGAACCCAT chr2: 172628350 0.2224,0.7776 0.24217953618756371,0.75782046381243628 Region score:0.26; TSS score:0.13; Unmatched score:0.05; Average GERP:0.013832673267326751 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002059 28928442 NONHSAT159353.1 rs6598099 ? N/A 25,108 european ancestry cases//63,332 european ancestry controls EFO_0008402 N/A Associate Cold sores rs6598099-? of NONHSAT159353.1 is significantly associated with the cold sores by using GWAS analysis in 25,108 european ancestry cases//63,332 european ancestry controls(p-value = 6E-6 ;OR = 0.0491). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. genome-wide association analysis NONHSAT159353.1 lncRNA Susceptibility to cold sores measurement 0.33 AAATCGCCCA(T > A,C)GAAAGAACTC chr11: 69826461 0.3906,.,0.6094 0.43421094546381243,0.00012742099898063,0.56566163353720693 Region score:0.42; TSS score:0.49; Unmatched score:0.25; Average GERP:-0.5469824752475247 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002060 28714975 NONHSAT156831.1 rs1887318 T N/A 18,467 european and unknown ancestry cases//45,264 european and unknown ancestry controls; 57,347 european and unknown ancestry cases//219,521 european and unknown ancestry controls EFO_0000378 N/A Associate Coronary artery disease (myocardial infartum//percutaneous transluminal coronary angioplasty//coronary artery bypass grafting//angina or chromic ischemic heart disease) rs1887318-T of NONHSAT156831.1 is significantly associated with the coronary artery disease (myocardial infartum//percutaneous transluminal coronary angioplasty//coronary artery bypass grafting//angina or chromic ischemic heart disease) by using GWAS analysis in 18,467 european and unknown ancestry cases//45,264 european and unknown ancestry controls; 57,347 european and unknown ancestry cases//219,521 european and unknown ancestry controls(p-value = 4E-12 ;OR = 1.06). 0.4 Association analyses based on false discovery rate implicate new loci for coronary artery disease. genome-wide association analysis NONHSAT156831.1 lncRNA Coronary artery disease 0.33 TGCTTATACT(C > T)TTTCTACTCA chr10: 30032669 0.7452,0.2548 0.67862831294597349,0.32137168705402650 Region score:0.38; TSS score:0.28; Unmatched score:0.24; Average GERP:-0.9483405940594057 GeneName:JCAD; CADD-Score:2; Consquence:intron; GeneID:ENSG00000165757; TranscriptID:ENST00000375377; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002061 28892062 NONHSAT222071.1 rs3932549 C N/A up to 72,390 japanese ancestry women//up to 85,894 japanese ancestry men; up to 10,048 japanese ancestry women//up to 5,098 japanese ancestry men//up to 181,999 european ancestry women//up to 140,155 european ancestry controls EFO_0001073 N/A Associate Body mass index rs3932549-C of NONHSAT222071.1 is significantly associated with the body mass index by using GWAS analysis in up to 72,390 japanese ancestry women//up to 85,894 japanese ancestry men; up to 10,048 japanese ancestry women//up to 5,098 japanese ancestry men//up to 181,999 european ancestry women//up to 140,155 european ancestry controls(p-value = 2E-9 ;OR = 0.025). 0.4 Genome-wide association study identifies 112 new loci for body mass index in the Japanese population. genome-wide association analysis NONHSAT222071.1 lncRNA Obesity 0.33 AAATAGTATG(A > C)AGGTTGTTTA chr9: 94311306 0.3506,0.6494 0.34795489296636085,0.65204510703363914 Region score:0.41; TSS score:0.04; Unmatched score:0; Average GERP:0.0956732673267328 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002062 28073927 NONHSAT190055.1 rs6054375 T N/A 20,353 european ancestry individuals//2,131 erasmus rucphen (founder/genetic isolate) individuals; 7,333 asian ancestry individuals EFO_0004190 N/A Associate Optic cup area rs6054375-T of NONHSAT190055.1 is significantly associated with the optic cup area by using GWAS analysis in 20,353 european ancestry individuals//2,131 erasmus rucphen (founder/genetic isolate) individuals; 7,333 asian ancestry individuals(p-value = 2E-15 ;OR = 0.018). 0.4 New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics. genome-wide association analysis NONHSAT190055.1 lncRNA Open-angle glaucoma 0.33 CAGCAGTTTT(G > T)TTTGTTTGTT chr20: 6597982 0.4567,0.5433 0.49624108053007135,0.50375891946992864 Region score:0.19; TSS score:0.08; Unmatched score:0.03; Average GERP:0.18520594059405937 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000644367; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002063 24493630 NONHSAT159345.1 rs537626 ? N/A 3,523 european ancestry young female cases//2,702 european ancestry young female controls; 3,470 european ancestry young female cases//5,475 european ancestry young female controls EFO_0000305 N/A Associate Breast cancer (early onset) rs537626-? of NONHSAT159345.1 is significantly associated with the breast cancer (early onset) by using GWAS analysis in 3,523 european ancestry young female cases//2,702 european ancestry young female controls; 3,470 european ancestry young female cases//5,475 european ancestry young female controls(p-value = 2E-15 ;OR = 1.29). 0.4 A genome-wide association study of early-onset breast cancer identifies PFKM as a novel breast cancer gene and supports a common genetic spectrum for breast cancer at any age. genome-wide association analysis NONHSAT159345.1 lncRNA Breast cancer 0.33 GCTGAAAAAA(G > C)AGAAAGTGGC chr11: 69492927 0.8425,0.1575 0.82441386340468909,0.17558613659531090 Region score:0.2; TSS score:0.41; Unmatched score:0.14; Average GERP:-0.5753427722772276 GeneName:LINC01488; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000285094; TranscriptID:ENST00000642898; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002064 23696099 NONHSAT139199.2 rs1050828 A N/A 1904 african american individuals; 411 african american individuals EFO_0004527 N/A Associate Red blood cell traits rs1050828-A of NONHSAT139199.2 is significantly associated with the red blood cell traits by using GWAS analysis in 1904 african american individuals; 411 african american individuals(p-value = 9E-9 ;OR = 0.72). 0.4 Genetic variants that confer resistance to malaria are associated with red blood cell traits in African-Americans: an electronic medical record-based genome-wide association study. genome-wide association analysis NONHSAT139199.2 lncRNA Mean corpuscular hemoglobin 0.451 GCATAGCCCA(C > T)GATGAAGGTG chrX: 154536002 0.9624,0.03762 0.96296030835881753,0.03703969164118246 Region score:0.58; TSS score:0.29; Unmatched score:0.65; Average GERP:2.551158415841584 GeneName:G6PD; CADD-Score:7; Consquence:missense; GeneID:ENSG00000160211; TranscriptID:ENST00000621232; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002064 28453575 NONHSAT139199.2 rs1050828 A N/A 12,502 hispanic/latino individuals; 4,772 hispanic/latino individuals EFO_0004527 N/A Associate Mean corpuscular hemoglobin rs1050828-A of NONHSAT139199.2 is significantly associated with the mean corpuscular hemoglobin by using GWAS analysis in 12,502 hispanic/latino individuals; 4,772 hispanic/latino individuals(p-value = 5E-11 ;OR = 0.546). 0.4 Genome-wide association study of red blood cell traits in Hispanics/Latinos: The Hispanic Community Health Study/Study of Latinos. genome-wide association analysis NONHSAT139199.2 lncRNA Mean corpuscular hemoglobin 0.451 GCATAGCCCA(C > T)GATGAAGGTG chrX: 154536002 0.9624,0.03762 0.96296030835881753,0.03703969164118246 Region score:0.58; TSS score:0.29; Unmatched score:0.65; Average GERP:2.551158415841584 GeneName:G6PD; CADD-Score:7; Consquence:missense; GeneID:ENSG00000160211; TranscriptID:ENST00000621232; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002065 23555300 NONHSAT169922.1 rs7141276 A N/A up to 2,706 european ancestry cases EFO_0000685 N/A Associate Response to anti-tnf therapy in rheumatoid arthritis rs7141276-A of NONHSAT169922.1 is significantly associated with the response to anti-tnf therapy in rheumatoid arthritis by using GWAS analysis in up to 2,706 european ancestry cases(p-value = 2E-6 ;OR = 0.37). 0.4 Genome-wide association study and gene expression analysis identifies CD84 as a predictor of response to etanercept therapy in rheumatoid arthritis. genome-wide association analysis NONHSAT169922.1 lncRNA Rheumatoid arthritis 0.33 TGATGGCAGT(A > G)GTGAGGAAGA chr14: 34665980 0.47,0.53 0.50316163353720693,0.49683836646279306 Region score:0.38; TSS score:0.4; Unmatched score:0.18; Average GERP:-0.22228811881188104 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000494684; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002066 28334935 NONHSAT092201.2 rs6762719 A N/A 12,589 hispanic/latino individuals EFO_0006333 N/A Associate Iron status biomarkers (transferrin saturation) rs6762719-A of NONHSAT092201.2 is significantly associated with the iron status biomarkers (transferrin saturation) by using GWAS analysis in 12,589 hispanic/latino individuals(p-value = 4E-25 ;OR = 0.149). 0.4 Genome-wide association study of iron traits and relation to diabetes in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL): potential genomic intersection of iron and glucose regulation? genome-wide association analysis NONHSAT092201.2 lncRNA Transferrin saturation measurement 0.33 TCCCAGAGGT(A > G)GAATTCTTAT chr3: 133761973 0.651,0.349 0.68106523955147808,0.31893476044852191 Region score:0.12; TSS score:0.12; Unmatched score:0.37; Average GERP:-0.10379801980198022 GeneName:AC080128.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000244062; TranscriptID:ENST00000474389; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TF; CADD-Score:2; Consquence:intron; GeneID:ENSG00000091513; TranscriptID:ENST00000402696; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002067 27603512 miR-495 rs2281611 C N/A 523 ischemic stroke patients and 400 control subjects HP_0002140 N/A no significance for risk Ischemic stroke rs2281611-C of hsa-mir-495 and its dysfunction is not significantly associated with Ischemic stroke by using case-control analysis in 523 ischemic stroke patients and 400 control subjects -0.4 Association of the Single Nucleotide Polymorphisms in microRNAs 130b, 200b, and 495 with Ischemic Stroke Susceptibility and Post-Stroke Mortality. case-control analysis hsa-mir-495 miRNA Ischemic stroke -0.33 CTCCCCTGGG(G > A,T)TGAGCCAACT chr14: 101033612 0.6406,.,0.3594 0.68369329765545361,.,0.31630670234454638 Region score:0.41; TSS score:0.3; Unmatched score:0.38; Average GERP:-1.4233603960396037 GeneName:MEG8; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000225746; TranscriptID:ENST00000636391; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR1193; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000221036; TranscriptID:ENST00000408109; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR494; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000194717; TranscriptID:ENST00000349529; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR495; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207743; TranscriptID:ENST00000385010; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR543; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000212040; TranscriptID:ENST00000390751; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002068 20418890 NONHSAT018519.2 rs6265 C N/A up to 74,035 european ancestry individuals; up to 68,988 participants EFO_0004318 N/A Associate Smoking behavior rs6265-C of NONHSAT018519.2 is significantly associated with the smoking behavior by using GWAS analysis in up to 74,035 european ancestry individuals; up to 68,988 participants(p-value = 2E-8 ;OR = 1.06). 0.4 Genome-wide meta-analyses identify multiple loci associated with smoking behavior. genome-wide association analysis NONHSAT018519.2 lncRNA Smoking behavior 0.33 TCTTCTATCA(C > T)GTGTTCGAAA chr11: 27658369 0.7987,0.2013 0.83567469418960244,0.16432530581039755 Region score:0.5; TSS score:0.56; Unmatched score:0.75; Average GERP:3.0963910891089115 GeneName:BDNF-AS; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000245573; TranscriptID:ENST00000499008; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.6233; mirSVR-E:-17.45 | GeneName:BDNF; CADD-Score:7; Consquence:missense; GeneID:ENSG00000176697; TranscriptID:ENST00000438929; AnnoType:NON_SYNONYMOUS; mirSVR-Score:-0.6233; mirSVR-E:-17.45 | NCRV0000002069 24972764 miRNA-196a2 rs11614913 T N/A 920 patients with diabetes and 834 healthy controls EFO_0000319 N/A increasing risk cardiovascular disease rs11614913-T of hsa-mir-196a-2 and its dysfunction is significantly associated with the increasing risk of Cardiovascular disease by using case-control analysis in 920 patients with diabetes and 834 healthy controls 0.4 Polymorphism in microRNA-196a2 contributes to the risk of cardiovascular disease in type 2 diabetes patients. case-control analysis hsa-mir-196a-2 miRNA Cardiovascular disease 0.33 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002070 27863252 NONHSAT174746.1 rs6416877 G N/A 169,219 european ancestry individuals EFO_0007988 N/A Associate Myeloid white cell count rs6416877-G of NONHSAT174746.1 is significantly associated with the myeloid white cell count by using GWAS analysis in 169,219 european ancestry individuals(p-value = 3E-11 ;OR = 0.02704665). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT174746.1 lncRNA Myeloid white cell count 0.33 ACGAGAGGTG(T > G)CCGGGCACGG chr17: 1463828 0.2616,0.7384 0.23175490570846075,0.76824509429153924 Region score:0.36; TSS score:0.41; Unmatched score:0.34; Average GERP:-0.0008460396039603968 GeneName:CRK; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000167193; TranscriptID:ENST00000572145; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYO1C; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000197879; TranscriptID:ENST00000359786; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002071 25187983 miR-146a rs2910164 C Dominant 1,098 individuals, includiing 491 patients were recruited from the souza ara篓虏jo outpatient unit, located at funda??o oswaldo cruz (fiocruz), rio de janeiro, brazil. the data for 607 controls was obtained from a bone marrow donors' bank in rio de janeiro comprising of samples from local healthy individuals. EFO_0001054 N/A Increasing risk Leprosy rs2910164-C of miR-146a and its dysfunction is significantly associated with the increasing risk of leprosy by using case-control analysis in 1,098 individuals, includiing 491 patients were recruited from the Souza Ara篓虏jo outpatient unit, located at Funda??o Oswaldo Cruz (FIOCRUZ), Rio de Janeiro, Brazil. The data for 607 controls was obtained from a bone marrow donors' bank in Rio de Janeiro comprising of samples from local healthy individuals By using the disease cell lines or tissues, the interference and mutation of miR-146a has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 Pre-miR-146a (rs2910164 G>C) single nucleotide polymorphism is genetically and functionally associated with leprosy. case-control analysis; Function hsa-mir-146a miRNA Leprosy 0.593 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 N/A 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002072 28928442 NONHSAT084729.2 rs113028550 ? N/A 60,098 european ancestry cases//113,323 european ancestry controls EFO_0007924 N/A Associate Tonsillectomy rs113028550-? of NONHSAT084729.2 is significantly associated with the tonsillectomy by using GWAS analysis in 60,098 european ancestry cases//113,323 european ancestry controls(p-value = 1E-31 ;OR = 0.1066). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. genome-wide association analysis NONHSAT084729.2 lncRNA Tonsillectomy risk measurement 0.33 GGCACTGCCA(C > CCTTAA)CTTAACAGGC chr22: 29718319 0.1969,0.8031 0.23608721967380224,0.76391278032619775 N/A GeneName:AC004882.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000232396; TranscriptID:ENST00000416352; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC004882.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000239446; TranscriptID:ENST00000420180; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CABP7; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000100314; TranscriptID:ENST00000216144; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002073 24800985 NONHSAT158631.1 rs11017328 ? N/A 537 european ancestry case-parent trios//213 case-parent trios; 348 european ancestry case-parent trios//10 case-parent trios Orphanet_2445 N/A Associate Conotruncal heart defects rs11017328-? of NONHSAT158631.1 is significantly associated with the conotruncal heart defects by using GWAS analysis in 537 european ancestry case-parent trios//213 case-parent trios; 348 european ancestry case-parent trios//10 case-parent trios(p-value = 3E-7 ;OR = 2.87). 0.4 Genome-wide association study of maternal and inherited loci for conotruncal heart defects. genome-wide association analysis NONHSAT158631.1 lncRNA Conotruncal heart malformations 0.33 GAGAATTAAA(C > G,T)GTGATTATGA chr10: 130548836 0.9876,.,0.01238 0.97376720183486238,0.00000796381243628,0.02622483435270132 Region score:0.28; TSS score:0.25; Unmatched score:0.1; Average GERP:-1.9256455445544558 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002074 27951730 H19 rs2067051 G N/a 313 aml patients EFO_0000222 N/A No significance for prognosis Acute myeloid leukemia rs2067051-G of H19 and its dysfunction is not significantly associated with acute myeloid leukemia by using analysis of sequence variation in 313 AML patients. -0.4 Long non-coding RNA GAS5 polymorphism predicts a poor prognosis of acute myeloid leukemia in Chinese patients via affecting hematopoietic reconstitution. analysis of sequence variation H19 lncRNA Acute myeloid leukemia -0.33 CTCCTGGTGA(C > A,T)GTCCTGCTGC chr11: 1996938 N/A 1 Region score:0.24; TSS score:0.38; Unmatched score:0.9; Average GERP:0.018400990099009955 GeneName:H19; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000130600; TranscriptID:ENST00000414790; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LINC01219; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000232987; TranscriptID:ENST00000418612; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR675; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284010; TranscriptID:ENST00000390168; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000035875; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01972; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000275266; TranscriptID:ENST00000617997; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01973; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000274866; TranscriptID:ENST00000620857; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002075 27989323 NONHSAT197636.1 rs73162807 C N/A 8,293 finnish ancestry individuals EFO_0008264 N/A Associate Platelet-derived growth factor bb levels rs73162807-C of NONHSAT197636.1 is significantly associated with the platelet-derived growth factor bb levels by using GWAS analysis in 8,293 finnish ancestry individuals(p-value = 2E-6 ;OR = 0.2391). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. genome-wide association analysis NONHSAT197636.1 lncRNA Platelet-derived growth factor bb measurement 0.33 TTTCTGAGAT(C > A)TTTGAAAACA chr3: 146757003 0.9968,0.003195 0.98795871559633027,0.01204128440366972 Region score:0.47; TSS score:0.25; Unmatched score:0.05; Average GERP:-0.46838316831683174 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002076 22589738 NONHSAT184092.1 rs10495537 T N/A 5,560 european ancestry female individuals//4,997 european ancestry male individuals EFO_0004765 adjusted for BMI Associate Visceral adipose tissue adjusted for bmi rs10495537-T of NONHSAT184092.1 is significantly associated with the visceral adipose tissue adjusted for bmi by using GWAS analysis in 5,560 european ancestry female individuals//4,997 european ancestry male individuals(p-value = 5E-7 ;OR = ?). 0.4 Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. genome-wide association analysis NONHSAT184092.1 lncRNA Visceral adipose tissue measurement 0.33 CTCTAATTTT(C > T)CTAATATTGC chr2: 6554387 0.7292,0.2708 0.74717284658511722,0.25282715341488277 Region score:0.42; TSS score:0.28; Unmatched score:0.1; Average GERP:-2.190938613861386 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002077 28334899 NONHSAT193870.1 rs2013208 T N/A 34,930 east asian ancestry individuals//187,167 european ancestry individuals; 8,741 chinese ancestry individuals EFO_0000319 N/A Associate Hdl cholesterol levels rs2013208-T of NONHSAT193870.1 is significantly associated with the hdl cholesterol levels by using GWAS analysis in 34,930 east asian ancestry individuals//187,167 european ancestry individuals; 8,741 chinese ancestry individuals(p-value = 1E-12 ;OR = 0.0254). 0.4 Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels. genome-wide association analysis NONHSAT193870.1 lncRNA Cardiovascular disease 0.451 ATCTGTGGGC(C > T)GTGTGTATTT chr3: 50091966 0.3269,0.6731 0.43949095310907237,0.56050904689092762 Region score:0.47; TSS score:0.32; Unmatched score:0.56; Average GERP:-0.136270297029703 GeneName:RBM5; CADD-Score:2; Consquence:intron; GeneID:ENSG00000003756; TranscriptID:ENST00000347869; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RBM6; CADD-Score:2; Consquence:intron,NMD; GeneID:ENSG00000004534; TranscriptID:ENST00000434592; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002077 24097068 NONHSAT193870.1 rs2013208 T N/A 94,595 european ancestry individuals; 93,982 european ancestry individuals EFO_0000319 N/A Associate Hdl cholesterol rs2013208-T of NONHSAT193870.1 is significantly associated with the hdl cholesterol by using GWAS analysis in 94,595 european ancestry individuals; 93,982 european ancestry individuals(p-value = 9E-12 ;OR = 0.025). 0.4 Discovery and refinement of loci associated with lipid levels. genome-wide association analysis NONHSAT193870.1 lncRNA Cardiovascular disease 0.451 ATCTGTGGGC(C > T)GTGTGTATTT chr3: 50091966 0.3269,0.6731 0.43949095310907237,0.56050904689092762 Region score:0.47; TSS score:0.32; Unmatched score:0.56; Average GERP:-0.136270297029703 GeneName:RBM5; CADD-Score:2; Consquence:intron; GeneID:ENSG00000003756; TranscriptID:ENST00000347869; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RBM6; CADD-Score:2; Consquence:intron,NMD; GeneID:ENSG00000004534; TranscriptID:ENST00000434592; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002078 25673413 NONHSAT183488.1 rs715 C N/A up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals EFO_0001073 N/A Associate Body mass index rs715-C of NONHSAT183488.1 is significantly associated with the body mass index by using GWAS analysis in up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals(p-value = 4E-6 ;OR = 0.022). 0.4 Genetic studies of body mass index yield new insights for obesity biology. genome-wide association analysis NONHSAT183488.1 lncRNA Obesity 0.33 TTCTGAACTC(T > C)TTCTATACTT chr2: 210678331 0.7638,0.2362 0.72770928899082568,0.27229071100917431 Region score:0.52; TSS score:0.86; Unmatched score:0.84; Average GERP:0.6805089108910892 GeneName:CPS1; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000021826; TranscriptID:ENST00000430249; AnnoType:3PRIME_UTR; mirSVR-Score:-1.1081; mirSVR-E:-13.72 | NCRV0000002079 28540026 NONHSAT218016.1 rs56223946 ? N/A schizophrenia cases and controls (see ripke//2014)cases//up to 1,190 controls EFO_0000692 N/A Associate Schizophrenia rs56223946-? of NONHSAT218016.1 is significantly associated with the schizophrenia by using GWAS analysis in schizophrenia cases and controls (see ripke//2014)cases//up to 1,190 controls(p-value = 3E-9 ;OR = 1.098901). 0.4 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. genome-wide association analysis NONHSAT218016.1 lncRNA Schizophrenia 0.33 CCTGCCTTGG(C > T)CTCCCAAAGT chr8: 27556469 0.9587,0.04133 0.92396151885830784,0.07603848114169215 Region score:0.26; TSS score:0.3; Unmatched score:0.14; Average GERP:0.07208910891089108 GeneName:GULOP; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000234770; TranscriptID:ENST00000454030; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002080 29198823 miR-184 chr15:79502186 T Dominant Primary human and mouse keratinocytes EFO_0009464 N/A Increasing risk Corneal/lens blinding disease chr15:79502186-T of miR-184 and its dysfunction is significantly associated with the increasing risk of corneal/lens blinding disease by using analysis of sequence variation in primary human and mouse keratinocytes. By using the disease cell lines or tissues, the interference and mutation of miR-184 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. Moreover, the ncRNA variation-disease association was validated by complex experiments. Furthermore, the physiological function of miR-184 (mutation or interference expression) is documented by organism models in vivo such as xenograft or transgenic model etc. 2 microRNA-184 Induces a Commitment Switch to Epidermal Differentiation. analysis of sequence variation; Function; Mechanism; Animal model hsa-mir-184 miRNA Corneal disease 0.865 N/A N/A N/A N/A N/A N/A NCRV0000002081 23817569 NONHSAT207152.1 rs6457730 A N/A 53,862 european ancestry individuals EFO_0003785 N/A Associate Self-reported allergy rs6457730-A of NONHSAT207152.1 is significantly associated with the self-reported allergy by using GWAS analysis in 53,862 european ancestry individuals(p-value = 1E-6 ;OR = 0.275). 0.4 A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci. genome-wide association analysis NONHSAT207152.1 lncRNA Allergy 0.33 AGACAAGGGC(G > A,C)GCTGAGAATA chr6: 33518955 0.9561,0.04393,. 0.95660518603465851,0.04338685015290519,0.00000796381243628 Region score:0.33; TSS score:0.25; Unmatched score:0.12; Average GERP:-0.7922891089108913 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002082 20637204 NONHSAT188374.1 rs1127354 A N/A 453 japanese ancestry individuals; 470 japanese ancestry individuals EFO_0004272 N/A Associate Ribavirin-induced anemia rs1127354-A of NONHSAT188374.1 is significantly associated with the ribavirin-induced anemia by using GWAS analysis in 453 japanese ancestry individuals; 470 japanese ancestry individuals(p-value = 4E-44 ;OR = ?). 0.4 ITPA polymorphism affects ribavirin-induced anemia and outcomes of therapy--a genome-wide study of Japanese HCV virus patients. genome-wide association analysis NONHSAT188374.1 lncRNA Anemia 0.33 AGATAAGTTT(C > A,G)CATGCACTTT chr20: 3213196 0.9105,0.08946,. 0.93423483690112130,0.06576516309887869,. Region score:0.38; TSS score:0.26; Unmatched score:0.51; Average GERP:3.0514167326732644 GeneName:ITPA; CADD-Score:7; Consquence:missense; GeneID:ENSG00000125877; TranscriptID:ENST00000380113; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002083 23793025 NONHSAT155061.1 rs11816922 A N/A 23,285 european ancestry cases//95,425 european ancestry controls EFO_0003821 N/A Associate Migraine rs11816922-A of NONHSAT155061.1 is significantly associated with the migraine by using GWAS analysis in 23,285 european ancestry cases//95,425 european ancestry controls(p-value = 5E-6 ;OR = 1.1). 0.4 Genome-wide meta-analysis identifies new susceptibility loci for migraine. genome-wide association analysis NONHSAT155061.1 lncRNA Migraine disorder 0.33 CTAAAAAATA(C > A,T)CCCCCCACCA chr10: 6882482 0.9153,0.08466,. 0.89952057849133537,0.10046349388379204,0.00001592762487257 Region score:0.25; TSS score:0.06; Unmatched score:0.03; Average GERP:-0.009393939393939394 GeneName:AL392086.2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000285845; TranscriptID:ENST00000650205; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LINC00707; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000238266; TranscriptID:ENST00000650314; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002084 22778062 SNORA32 rs1944108 G N/A N/A function N/A not significant changes in the structure function rs1944108-G of SNORA32 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in nan -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORA32 snoRNA function -0.049 TTGCTAGCAA(A > C)GTAGCAGATA chr11: 93731009 0.6296,0.3704 0.64585722477064220,0.35414277522935779 Region score:0.62; TSS score:0.51; Unmatched score:0.76; Average GERP:1.9643762376237615 GeneName:AP001273.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000279696; TranscriptID:ENST00000624493; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CEP295; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000166004; TranscriptID:ENST00000325212; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR1304; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000284458; TranscriptID:ENST00000408243; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORA18; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207145; TranscriptID:ENST00000384416; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORA1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000206834; TranscriptID:ENST00000384107; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORA25; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207112; TranscriptID:ENST00000384384; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORA32; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000206799; TranscriptID:ENST00000384072; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORA40; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000210825; TranscriptID:ENST00000388090; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORA8; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207304; TranscriptID:ENST00000384574; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORD5; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000239195; TranscriptID:ENST00000459342; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORD6; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000202314; TranscriptID:ENST00000365444; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TAF1D; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000166012; TranscriptID:ENST00000448108; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002085 27421647 pre-miR27a rs895819 G Recessive 440 breast cancer cases and 807 controls EFO_0009443 N/A decreasing risk BRCA1/2-negative breast cancer rs895819-G of hsa-mir-27a and its dysfunction is significantly associated with the decreasing risk of Brcax breast cancer by using case-control analysis in 440 breast cancer cases and 807 controls 0.4 Association of single nucleotide polymorphisms in Pre-miR-27a, Pre-miR-196a2, Pre-miR-423, miR-608 and Pre-miR-618 with breast cancer susceptibility in a South American population. case-control analysis hsa-mir-27a miRNA Brcax breast cancer 0.33 CACGACTTGG(T > C)GTGGACCCTG chr19: 13836478 0.6362,0.3638 0.63091711264016309,0.36908288735983690 Region score:0.57; TSS score:0.41; Unmatched score:0.75; Average GERP:2.158386138613861 GeneName:AC020916.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000267519; TranscriptID:ENST00000587762; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR23A; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207980; TranscriptID:ENST00000385245; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR24-2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284387; TranscriptID:ENST00000386972; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR27A; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207808; TranscriptID:ENST00000385073; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000107447; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ZSWIM4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000132003; TranscriptID:ENST00000254323; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002086 23144326 NONHSAT031256.2 rs7953249 G N/A up to 1,951 european ancestry smokers EFO_0000341 N/A Associate Chronic obstructive pulmonary disease-related biomarkers rs7953249-G of NONHSAT031256.2 is significantly associated with the chronic obstructive pulmonary disease-related biomarkers by using GWAS analysis in up to 1,951 european ancestry smokers(p-value = 1E-6 ;OR = ?). 0.4 Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease. genome-wide association analysis NONHSAT031256.2 lncRNA Chronic obstructive pulmonary disease 0.33 GATATCTGTC(G > A)ACGGTAAATG chr12: 120965921 0.4311,0.5689 0.40623407237512742,0.59376592762487257 Region score:0.26; TSS score:0.34; Unmatched score:0.36; Average GERP:-0.8084158415841585 GeneName:HNF1A-AS1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000241388; TranscriptID:ENST00000539163; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000472095; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000472096; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002087 26953487 H2A/K chr6:26272731 C Dominant 10 kidney cancer patients EFO_0002890 N/A increasing risk renal carcinoma chr6:26272731 -C of H2A/K and its dysfunction is significantly associated with the increasing risk of Renal carcinoma by using analysis of sequence variation in 10 kidney cancer patients 0.9 H2A/K pseudogene mutation may promote cell proliferation. analysis of sequence variation H2A/K lncRNA Renal carcinoma 0.593 - - - - - - NCRV0000002088 20966902 NONHSAT007287.2 rs6670655 T N/A 1,792 filipino ancestry females EFO_0004339 N/A Associate Height rs6670655-T of NONHSAT007287.2 is significantly associated with the height by using GWAS analysis in 1,792 filipino ancestry females(p-value = 3E-6 ;OR = 1.26). 0.4 Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women. genome-wide association analysis NONHSAT007287.2 lncRNA Body height 0.33 AAGCAGACAG(T > C)CCATGCTTAT chr1: 164769934 0.2889,0.7111 0.29951102191641182,0.70048897808358817 Region score:0.44; TSS score:0.51; Unmatched score:0.65; Average GERP:-1.1411554455445547 GeneName:AL357568.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000233693; TranscriptID:ENST00000421530; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PBX1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000185630; TranscriptID:ENST00000420696; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002089 24951543 NONHSAT115335.2 rs75796365 C N/A 2,369 malay ancestry individuals//2,200 indian ancestry individuals//2,571 chinese ancestry individuals HP_0011142 N/A Associate Age-related nuclear cataracts rs75796365-C of NONHSAT115335.2 is significantly associated with the age-related nuclear cataracts by using GWAS analysis in 2,369 malay ancestry individuals//2,200 indian ancestry individuals//2,571 chinese ancestry individuals(p-value = 3E-6 ;OR = 0.13). 0.4 Meta-analysis of genome-wide association studies in multiethnic Asians identifies two loci for age-related nuclear cataract. genome-wide association analysis NONHSAT115335.2 lncRNA Age-related nuclear cataract 0.33 TTTTCTGATT(T > C)CTTGCTGATC chr6: 143041616 0.9653,0.03474 0.98306097094801223,0.01693902905198776 Region score:0.27; TSS score:0.2; Unmatched score:0.27; Average GERP:-0.09900792079207921 GeneName:AL023581.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000227192; TranscriptID:ENST00000454588; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LINC01277; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000229017; TranscriptID:ENST00000419957; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002090 23251661 NONHSAT163119.1 rs10773920 C N/A 815 hispanic children from 263 families EFO_0001073 N/A Associate Obesity-related traits rs10773920-C of NONHSAT163119.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 8E-6 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. genome-wide association analysis NONHSAT163119.1 lncRNA Obesity 0.33 ATCAGGAACA(A > C)AAGACCCACA chr12: 131529661 0.6925,0.3075 0.71137550968399592,0.28862449031600407 Region score:0.34; TSS score:0.29; Unmatched score:0.06; Average GERP:0.058504950495049654 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000474479; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002091 26227905 NONHSAT036685.2 rs9323124 ? N/A 250 han chinese ancestry cases//250 han chinese ancestry controls EFO_0002508 N/A Associate Parkinson's disease rs9323124-? of NONHSAT036685.2 is significantly associated with the parkinson's disease by using GWAS analysis in 250 han chinese ancestry cases//250 han chinese ancestry controls(p-value = 1E-6 ;OR = 3.97). 0.4 A Pooling Genome-Wide Association Study Combining a Pathway Analysis for Typical Sporadic Parkinson's Disease in the Han Population of Chinese Mainland. genome-wide association analysis NONHSAT036685.2 lncRNA Parkinson's disease 0.33 AATAGCTTCA(T > A)GCCAGGAAAT chr14: 46996974 0.8397,0.1603 0.79235951834862385,0.20764048165137614 Region score:0.3; TSS score:0.07; Unmatched score:0.29; Average GERP:-0.16345643564356424 GeneName:MDGA2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000139915; TranscriptID:ENST00000426342; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RPA2P1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000258392; TranscriptID:ENST00000556557; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002092 21835309 NONHSAT168818.1 rs4900109 G N/A 2,121 european ancestry individuals; 499 european ancestry adolescent twins and siblings//73 european ancestry adult individuals EFO_0004731 N/A Associate Iris characteristics rs4900109-G of NONHSAT168818.1 is significantly associated with the iris characteristics by using GWAS analysis in 2,121 european ancestry individuals; 499 european ancestry adolescent twins and siblings//73 european ancestry adult individuals(p-value = 8E-21 ;OR = 0.17). 0.4 GWAS findings for human iris patterns: associations with variants in genes that influence normal neuronal pattern development. genome-wide association analysis NONHSAT168818.1 lncRNA Eye measurement 0.33 TCCAGTAGAA(G > T)GGCATTGATG chr14: 92297047 0.7314,0.2686 0.69321801732925586,0.30678198267074413 Region score:0.45; TSS score:0.22; Unmatched score:0.09; Average GERP:-0.9385940594059403 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002093 22704111 NONHSAT197024.1 rs950146 C N/A 125 european ancestry cases//403 european ancestry controls EFO_0004234 N/A Associate Erectile dysfunction in type 1 diabetes rs950146-C of NONHSAT197024.1 is significantly associated with the erectile dysfunction in type 1 diabetes by using GWAS analysis in 125 european ancestry cases//403 european ancestry controls(p-value = 4E-6 ;OR = ?). 0.4 Pilot genome-wide association search identifies potential loci for risk of erectile dysfunction in type 1 diabetes using the DCCT/EDIC study cohort. genome-wide association analysis NONHSAT197024.1 lncRNA Erectile dysfunction 0.33 ATATTAAACA(G > T)AACAGGGCCC chr3: 36638607 0.5355,0.4645 0.50948490061162079,0.49051509938837920 Region score:0.41; TSS score:0.41; Unmatched score:0.45; Average GERP:-0.292089108910891 GeneName:NBPF21P; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000231382; TranscriptID:ENST00000425093; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002094 25282103 NONHSAT210897.1 rs314263 T N/A 253,288 european ancestry individuals; 80,067 european ancestry individuals EFO_0004339 N/A Associate Height rs314263-T of NONHSAT210897.1 is significantly associated with the height by using GWAS analysis in 253,288 european ancestry individuals; 80,067 european ancestry individuals(p-value = 1E-42 ;OR = 0.043). 0.4 Defining the role of common variation in the genomic and biological architecture of adult human height. genome-wide association analysis NONHSAT210897.1 lncRNA Body height 0.33 TTTCAAGCAA(C > T)CAGTTTCTAG chr6: 104944870 0.3109,0.6891 0.30811193934760448,0.69188806065239551 Region score:0.66; TSS score:0.65; Unmatched score:0.61; Average GERP:3.912485148514848 GeneName:LIN28B-AS1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000203809; TranscriptID:ENST00000636682; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LIN28B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000187772; TranscriptID:ENST00000637759; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002095 27863252 NONHSAT205599.1 rs972761 C N/A 172,925 european ancestry individuals EFO_0004509 N/A Associate Hemoglobin concentration rs972761-C of NONHSAT205599.1 is significantly associated with the hemoglobin concentration by using GWAS analysis in 172,925 european ancestry individuals(p-value = 3E-12 ;OR = 0.02520453). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT205599.1 lncRNA Hemoglobin measurement 0.33 AATGATGCTA(T > C)ATGACTTCTT chr5: 34507680 0.6292,0.3708 0.61695654943934760,0.38304345056065239 Region score:0.3; TSS score:0.18; Unmatched score:0.08; Average GERP:-0.1808237623762376 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002096 23770605 NONHSAT160982.1 rs7944004 T N/A 2,179 european ancestry cases//6,221 european ancestry controls; 1,709 european ancestry cases//6,318 european ancestry controls EFO_0000095 N/A Associate Chronic lymphocytic leukemia rs7944004-T of NONHSAT160982.1 is significantly associated with the chronic lymphocytic leukemia by using GWAS analysis in 2,179 european ancestry cases//6,221 european ancestry controls; 1,709 european ancestry cases//6,318 european ancestry controls(p-value = 2E-10 ;OR = 1.2). 0.4 Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia. genome-wide association analysis NONHSAT160982.1 lncRNA Chronic lymphocytic leukemia 0.33 ATGGTTAAGA(T > G)GGTCAGTTTT chr11: 2289922 0.5909,0.4091 0.53512837665647298,0.46487162334352701 Region score:0.24; TSS score:0.35; Unmatched score:0.24; Average GERP:-0.22185148514851472 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002097 22001757 NONHSAT148436.1 rs1497406 G N/A up to 52,350 european ancestry individuals//up to 8,739 indian asian ancestry individuals EFO_0001421 N/A Associate Liver enzyme levels (gamma-glutamyl transferase) rs1497406-G of NONHSAT148436.1 is significantly associated with the liver enzyme levels (gamma-glutamyl transferase) by using GWAS analysis in up to 52,350 european ancestry individuals//up to 8,739 indian asian ancestry individuals(p-value = 3E-19 ;OR = 3.8). 0.4 Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. genome-wide association analysis NONHSAT148436.1 lncRNA Liver disease 0.33 CAGGGATTAA(A > G)GGTACTACAG chr1: 16178825 0.5579,0.4421 0.53066067787971457,0.46933932212028542 Region score:0.49; TSS score:0.64; Unmatched score:0.49; Average GERP:0.1403396039603961 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000002026; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002098 27989323 NONHSAT119236.2 rs181972774 G N/A 8,243 finnish ancestry individuals EFO_0005140 N/A Associate Macrophage inflammatory protein 1b levels rs181972774-G of NONHSAT119236.2 is significantly associated with the macrophage inflammatory protein 1b levels by using GWAS analysis in 8,243 finnish ancestry individuals(p-value = 5E-6 ;OR = 0.5285). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. genome-wide association analysis NONHSAT119236.2 lncRNA Autoimmune disease 0.33 CCATAAACAG(G > A)TGAATAAAGA chr7: 12586697 0.999,0.0009984 0.99762678389398572,0.00237321610601427 Region score:0.24; TSS score:0.3; Unmatched score:0.22; Average GERP:-0.12115841584158409 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000208514; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SCIN; CADD-Score:2; Consquence:intron; GeneID:ENSG00000006747; TranscriptID:ENST00000297029; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002099 27424800 mir-6891 rs9266207 ? N/A Schizophrenias EFO_0000692 N/A increasing risk schizophrenia rs9266207-? of hsa-mir-6891 and its dysfunction is significantly associated with the increasing risk of Schizophrenia by using genome-wide association analysis in Schizophrenias 0.4 Schizophrenia risk variants affecting microRNA function and site-specific regulation of NT5C2 by miR-206. genome-wide association analysis hsa-mir-6891 miRNA Schizophrenia 0.33 TCTGAGGAGA(C > A,T)TCTGAGTCCG chr6: 31357176 0.233,.,0.767 0.42198649337410805,0.04681128950050968,0.53120221712538226 Region score:0.38; TSS score:0.37; Unmatched score:0.87; Average GERP:-1.2443920792079213 GeneName:AL671883.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000271581; TranscriptID:ENST00000603274; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HLA-B; CADD-Score:3; Consquence:5_prime_UTR; GeneID:ENSG00000234745; TranscriptID:ENST00000412585; AnnoType:5PRIME_UTR; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR6891; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277402; TranscriptID:ENST00000618788; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000195527; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000787551; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002100 28334899 NONHSAT179413.1 rs2278236 A N/A 34,930 east asian ancestry individuals//187,167 european ancestry individuals; 8,741 chinese ancestry individuals EFO_0000319 N/A Associate Hdl cholesterol levels rs2278236-A of NONHSAT179413.1 is significantly associated with the hdl cholesterol levels by using GWAS analysis in 34,930 east asian ancestry individuals//187,167 european ancestry individuals; 8,741 chinese ancestry individuals(p-value = 1E-16 ;OR = 0.0331). 0.4 Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels. genome-wide association analysis NONHSAT179413.1 lncRNA Cardiovascular disease 0.33 TCATGGAGGA(G > A,C)GGGGTGCCAG chr19: 8366697 0.5791,0.4209,. 0.52977669469928644,0.47017552242609582,0.00004778287461773 Region score:0.21; TSS score:0.36; Unmatched score:0.61; Average GERP:-1.005229702970297 GeneName:ANGPTL4; CADD-Score:2; Consquence:intron; GeneID:ENSG00000167772; TranscriptID:ENST00000301455; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000106819; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002101 23906647 miR-96 rs2402959 ? N/a 695 adults with adhd (266 and 396 subjects with and without comorbid sud, respectively), 403 subjects with sud without life-time diagnosis of adhd and 485 sex-matched controls from spain EFO_0003888 N/A Increasing risk Attention deficit-hyperactivity disorder rs2402959-? of miR-96 and its dysfunction is significantly associated with the increasing risk of Attention deficit-hyperactivity disorder by using case-control analysis in 695 adults with ADHD (266 and 396 subjects with and without comorbid SUD, respectively), 403 subjects with SUD without life-time diagnosis of ADHD and 485 sex-matched controls from Spain. 0.4 Evaluation of single nucleotide polymorphisms in the miR-183-96-182 cluster in adulthood attention-deficit and hyperactivity disorder (ADHD) and substance use disorders (SUDs). case-control analysis hsa-mir-96 miRNA Attention deficit hyperactivity disorder 0.33 AGACTGAGGG(A > G)TAACGTCAAG chr7: 129765967 0.7424,0.2576 0.74565972222222222,0.25434027777777777 Region score:0.18; TSS score:0.19; Unmatched score:0.15; Average GERP:-0.8247930693069306 GeneName:MIR182; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207990; TranscriptID:ENST00000385255; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002102 28928442 NONHSAT150603.1 rs7551561 ? N/A 60,098 european ancestry cases//113,323 european ancestry controls EFO_0007924 N/A Associate Tonsillectomy rs7551561-? of NONHSAT150603.1 is significantly associated with the tonsillectomy by using GWAS analysis in 60,098 european ancestry cases//113,323 european ancestry controls(p-value = 1E-7 ;OR = 0.0587). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. genome-wide association analysis NONHSAT150603.1 lncRNA Tonsillectomy risk measurement 0.33 ATTTGGTATA(C > T)GTAATTTGGT chr1: 221765880 0.116,0.884 0.12441864169215086,0.87558135830784913 Region score:0.3; TSS score:0.39; Unmatched score:0.11; Average GERP:-0.06921287128712869 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000387595; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002103 26152337 hsa-mir-300 rs12894467 C N/A 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A no significance for risk hepatocellular carcinoma rs12894467-C of hsa-mir-300 and its dysfunction is not significantly associated with Hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors -0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. case-control analysis hsa-mir-300 miRNA Hepatocellular carcinoma -0.33 TAATCCTTCA(C > T)GCATTTGCTT chr14: 101041390 0.3974,0.6026 0.49088939857288481,0.50911060142711518 Region score:0.52; TSS score:0.21; Unmatched score:0.52; Average GERP:-0.08899801980198017 GeneName:MEG8; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000225746; TranscriptID:ENST00000636391; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR1185-1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000221525; TranscriptID:ENST00000408598; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR1185-2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000221614; TranscriptID:ENST00000408687; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR300; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000215957; TranscriptID:ENST00000401138; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR376A1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000283588; TranscriptID:ENST00000616574; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR376A2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000283561; TranscriptID:ENST00000636782; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR376B; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000283556; TranscriptID:ENST00000614515; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR376C; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000283279; TranscriptID:ENST00000607441; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR381; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000199020; TranscriptID:ENST00000362150; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR381HG; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000258861; TranscriptID:ENST00000553692; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR654; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207934; TranscriptID:ENST00000385199; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002104 30113224 MEG3 rs7158663 A N/a 526 lung cancer patients and 526 healthy controls in chinese northeast population EFO_0001071 N/A No significance for risk Lung cancer rs7158663-A of MEG3 and its dysfunction is not significantly associated with Lung Cancer by using case-control analysis in 526 lung cancer patients and 526 healthy controls in Chinese Northeast Population. -0.4 Association Between Long Noncoding RNA MEG3 Polymorphisms and Lung Cancer Susceptibility in Chinese Northeast Population. case-control analysis MEG3 lncRNA Lung cancer -0.33 GAGATAAAAC(A > G)TCCTTCACGT chr14: 100853087 0.4846,0.5154 0.57178580530071355,0.42821419469928644 Region score:0.22; TSS score:0.19; Unmatched score:0.3; Average GERP:-0.5297118811881187 GeneName:AL117190.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000258399; TranscriptID:ENST00000637474; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AL117190.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000258663; TranscriptID:ENST00000554041; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MEG3; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000214548; TranscriptID:ENST00000524035; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR770; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000211574; TranscriptID:ENST00000390219; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002105 21160409 NONHSAT178511.1 rs12604483 ? N/A 531 sub-saharan african ancestry cases//848 sub-saharan african ancestry controls EFO_0000180 N/A Associate Hiv-1 susceptibility rs12604483-? of NONHSAT178511.1 is significantly associated with the hiv-1 susceptibility by using GWAS analysis in 531 sub-saharan african ancestry cases//848 sub-saharan african ancestry controls(p-value = 7E-6 ;OR = ?). 0.4 Common human genetic variants and HIV-1 susceptibility: a genome-wide survey in a homogeneous African population. genome-wide association analysis NONHSAT178511.1 lncRNA Hiv-1 infection 0.33 ACAATAAGGC(A > T)TAGTGTAGAA chr18: 56188294 0.4846,0.5154 0.54615029306829765,0.45384970693170234 Region score:0.58; TSS score:0.59; Unmatched score:0.74; Average GERP:-1.0187148514851485 GeneName:AC006305.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000206129; TranscriptID:ENST00000382897; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002106 22504420 NONHSAT208858.1 rs9466056 A N/A up to 32,961 european and east asian ancestry individuals; up to 50,933 european and east asian ancestry individuals EFO_0003923 N/A Associate Bone mineral density rs9466056-A of NONHSAT208858.1 is significantly associated with the bone mineral density by using GWAS analysis in up to 32,961 european and east asian ancestry individuals; up to 50,933 european and east asian ancestry individuals(p-value = 3E-13 ;OR = 0.04). 0.4 Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. genome-wide association analysis NONHSAT208858.1 lncRNA Bone density 0.451 ACAACACAGG(A > G,T)CTGACCTTTT chr6: 21384382 0.4022,0.5978,. 0.38419820336391437,0.61571419469928644,0.00008760193679918 Region score:0.5; TSS score:0.53; Unmatched score:0.47; Average GERP:2.365019801980199 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000785428; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002106 21533022 NONHSAT208858.1 rs9466056 G N/A 900 european ancestry female individuals with low hip bone mineral density//1,055 european ancestry female individuals with high hip bone mineral density; 20,898 european ancestry female individuals EFO_0003923 N/A Associate Bone mineral density rs9466056-G of NONHSAT208858.1 is significantly associated with the bone mineral density by using GWAS analysis in 900 european ancestry female individuals with low hip bone mineral density//1,055 european ancestry female individuals with high hip bone mineral density; 20,898 european ancestry female individuals(p-value = 4E-6 ;OR = 0.05). 0.4 Genome-wide association study using extreme truncate selection identifies novel genes affecting bone mineral density and fracture risk. genome-wide association analysis NONHSAT208858.1 lncRNA Bone density 0.451 ACAACACAGG(A > G,T)CTGACCTTTT chr6: 21384382 0.4022,0.5978,. 0.38419820336391437,0.61571419469928644,0.00008760193679918 Region score:0.5; TSS score:0.53; Unmatched score:0.47; Average GERP:2.365019801980199 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000785428; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002107 27770636 NONHSAT164499.1 rs7313581 T N/A 1,825 african american ancestry cases//3,784 african american ancestry controls; EFO_1001870 N/A Associate Late-onset alzheimer's disease rs7313581-T of NONHSAT164499.1 is significantly associated with the late-onset alzheimer's disease by using GWAS analysis in 1,825 african american ancestry cases//3,784 african american ancestry controls; (p-value = 8E-7 ;OR = 0.09). 0.4 Two novel loci, COBL and SLC10A2, for Alzheimer's disease in African Americans. genome-wide association analysis NONHSAT164499.1 lncRNA Late-onset alzheimers disease 0.33 GCTCATGGTT(C > G,T)TGTAGGCTAT chr12: 25269783 0.7847,.,0.2153 0.77165360601427115,0.00006371049949031,0.22828268348623853 Region score:0.41; TSS score:0.16; Unmatched score:0.13; Average GERP:0.0787128712871287 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000453226; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002108 21886157 NONHSAT003984.2 rs211718 T N/A 2,820 european ancestry individuals EFO_0004725 N/A Associate Metabolic traits rs211718-T of NONHSAT003984.2 is significantly associated with the metabolic traits by using GWAS analysis in 2,820 european ancestry individuals(p-value = 2E-71 ;OR = 0.16). 0.4 Human metabolic individuality in biomedical and pharmaceutical research. genome-wide association analysis NONHSAT003984.2 lncRNA Metabolite measurement 0.451 ATGTGAACTA(T > C)GACAAAATAT chr1: 75640990 0.1915,0.8085 0.24422623598369011,0.75577376401630988 Region score:0.28; TSS score:0.1; Unmatched score:0.08; Average GERP:-0.1172359405940594 GeneName:AL137803.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000230863; TranscriptID:ENST00000648424; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002108 20037589 NONHSAT003984.2 rs211718 C N/A 1,029 european ancestry individuals; 1,202 european ancestry individuals EFO_0004725 N/A Associate Metabolite levels rs211718-C of NONHSAT003984.2 is significantly associated with the metabolite levels by using GWAS analysis in 1,029 european ancestry individuals; 1,202 european ancestry individuals(p-value = 1E-63 ;OR = 0.12). 0.4 A genome-wide perspective of genetic variation in human metabolism. genome-wide association analysis NONHSAT003984.2 lncRNA Metabolite measurement 0.451 ATGTGAACTA(T > C)GACAAAATAT chr1: 75640990 0.1915,0.8085 0.24422623598369011,0.75577376401630988 Region score:0.28; TSS score:0.1; Unmatched score:0.08; Average GERP:-0.1172359405940594 GeneName:AL137803.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000230863; TranscriptID:ENST00000648424; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002109 29016859 MIR4300 rs1828853 ? N/a 2,543 adolescent idiopathic scoliosis subjects EFO_0005423 N/A Increasing risk Adolescent idiopathic scoliosis rs1828853-? of MIR4300 and its dysfunction is significantly associated with the increasing risk of Adolescent idiopathic scoliosis by using genome-wide association analysis in 2,543 Adolescent idiopathic scoliosis subjects. 0.4 A functional variant in MIR4300HG, the host gene of microRNA MIR4300 is associated with progression of adolescent idiopathic scoliosis. genome-wide association analysis hsa-mir-4300 miRNA Adolescent idiopathic scoliosis 0.33 CATTAGGTAT(G > A,C,T)TCTCCTTTTT chr11: 82371520 N/A 1 Region score:0.28; TSS score:0.06; Unmatched score:0; Average GERP:-0.20686930693069308 GeneName:MIR4300HG; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000245832; TranscriptID:ENST00000500502; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002110 19862010 NONHSAT208069.1 rs9373124 C N/A 24,167 european ancestry individuals; 9,456 european ancestry individuals EFO_0005047 N/A Associate Other erythrocyte phenotypes rs9373124-C of NONHSAT208069.1 is significantly associated with the other erythrocyte phenotypes by using GWAS analysis in 24,167 european ancestry individuals; 9,456 european ancestry individuals(p-value = 7E-14 ;OR = 0.0). 0.4 Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. genome-wide association analysis NONHSAT208069.1 lncRNA Erythrocyte measurement 0.33 ATCCATTTGT(T > C)CATGAACATT chr6: 135102071 0.6965,0.3035 0.66739137359836901,0.33260862640163098 Region score:0.22; TSS score:0.13; Unmatched score:0.31; Average GERP:-0.6178811881188119 GeneName:HBS1L; CADD-Score:2; Consquence:intron; GeneID:ENSG00000112339; TranscriptID:ENST00000529882; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000806349; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002111 28736931 NONHSAT201394.1 rs6847878 ? N/A 781 european ancestry individuals//138 african american ancestry individuals//345 unknown ancestry individuals; EFO_0001360 fenofibrate Associate Total cholesterol change in response to fenofibrate in statin-treated type 2 diabetes rs6847878-? of NONHSAT201394.1 is significantly associated with the total cholesterol change in response to fenofibrate in statin-treated type 2 diabetes by using GWAS analysis in 781 european ancestry individuals//138 african american ancestry individuals//345 unknown ancestry individuals; (p-value = 1E-6 ;OR = 0.062). 0.4 Genetic Variants in HSD17B3, SMAD3, and IPO11 Impact Circulating Lipids in Response to Fenofibrate in Individuals With Type 2 Diabetes. genome-wide association analysis NONHSAT201394.1 lncRNA Type ii diabetes mellitus 0.33 AAAACATAGA(G > T)CATGTTAGGA chr4: 81419698 0.994,0.00599 0.98967889908256880,0.01032110091743119 Region score:0.36; TSS score:0.47; Unmatched score:0.22; Average GERP:-0.7353227722772279 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002112 28886711 MIR-499 rs3746444 G Dominant 96 patients and 96 controls in the discovery phase, and 15 patients and 204 controls in the replication phase EFO_0000270 N/A Increased risk and poor prognosis Bronchial asthma rs3746444-G of MIR-499 and its dysfunction is significantly associated with the increasing risk and poor prognosis of bronchial asthma by using Pedigree analysis in 96 patients and 96 controls in the discovery phase, and 15 patients and 204 controls in the replication phase. By using the disease cell lines or tissues, the mutation of MIR-499 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 Structure and functional impact of seed region variant in MIR-499 gene family in bronchial asthma. Pedigree analysis; Function hsa-mir-499a miRNA Asthma 0.393 CCACGTGAAC(A > G)TCACAGCAAG chr20: 34990448 0.8165,0.1835 0.81708715596330275,0.18291284403669724 Region score:0.79; TSS score:0.85; Unmatched score:0.95; Average GERP:3.757564356435645 GeneName:MIR499A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207635; TranscriptID:ENST00000384903; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR499B; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283441; TranscriptID:ENST00000636498; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYH7B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000078814; TranscriptID:ENST00000262873; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002112 28181414 miR-499 rs3746444 G N/A 124 patients with comorbid AR and asthma (AR-A) and 206 healthy Chinese children as controls EFO_0000270 N/A no significance for risk asthma rs3746444-G of hsa-mir-499a and its dysfunction is not significantly associated with Asthma by using case-control analysis in 124 patients with comorbid AR and asthma (AR-A) and 206 healthy Chinese children as controls -0.4 A functional variant of miRNA-149 confers risk for allergic rhinitis and comorbid asthma in Chinese children. case-control analysis hsa-mir-499a miRNA Asthma 0.393 CCACGTGAAC(A > G)TCACAGCAAG chr20: 34990448 0.8165,0.1835 0.81708715596330275,0.18291284403669724 Region score:0.79; TSS score:0.85; Unmatched score:0.95; Average GERP:3.757564356435645 GeneName:MIR499A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207635; TranscriptID:ENST00000384903; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR499B; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283441; TranscriptID:ENST00000636498; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYH7B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000078814; TranscriptID:ENST00000262873; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002113 27863252 NONHSAT173451.1 rs2968478 G N/A 170,761 european ancestry individuals EFO_0007986 N/A Associate High light scatter reticulocyte count rs2968478-G of NONHSAT173451.1 is significantly associated with the high light scatter reticulocyte count by using GWAS analysis in 170,761 european ancestry individuals(p-value = 2E-14 ;OR = 0.02842473). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT173451.1 lncRNA Reticulocyte count 0.33 GGCCTGGTCA(T > G)AGCTGAAAGG chr16: 88792238 0.3784,0.6216 0.38257358562691131,0.61742641437308868 Region score:0.29; TSS score:0.37; Unmatched score:0.44; Average GERP:-0.2837801980198019 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002114 26634245 NONHSAT182562.1 rs142793646 A N/A 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio in copd rs142793646-A of NONHSAT182562.1 is significantly associated with the post bronchodilator fev1/fvc ratio in copd by using GWAS analysis in 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases(p-value = 4E-7 ;OR = 0.404). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT182562.1 lncRNA Pulmonary function measurement 0.33 CCTGATTACT(G > A)TTATAGTAAG chr2: 122410236 0.9972,0.002796 0.99651185015290519,0.00348814984709480 Region score:0.31; TSS score:0.15; Unmatched score:0.01; Average GERP:-0.3132290099009902 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002115 26634245 NONHSAT176423.1 rs140385970 T N/A 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio in copd rs140385970-T of NONHSAT176423.1 is significantly associated with the post bronchodilator fev1/fvc ratio in copd by using GWAS analysis in 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases(p-value = 9E-7 ;OR = 0.306). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT176423.1 lncRNA Pulmonary function measurement 0.33 TCCGTTCCCC(C > A,G,T)CCTCCCTACG chr17: 61482988 0.9996,.,.,0.0003994 0.99981683231396534,0.00002389143730886,0.00014334862385321,0.00001592762487257 Region score:0.15; TSS score:0.29; Unmatched score:0.51; Average GERP:3.680247524752472 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000560656; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TBX4; CADD-Score:5; Consquence:synonymous; GeneID:ENSG00000121075; TranscriptID:ENST00000393853; AnnoType:SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002116 26634245 NONHSAT172351.1 rs2036527NR ? N/A 6,659 european ancestry current and former smoker individuals EFO_0003892 N/A Associate Pre bronchodilator fev1 rs2036527NR-? of NONHSAT172351.1 is significantly associated with the pre bronchodilator fev1 by using GWAS analysis in 6,659 european ancestry current and former smoker individuals(p-value = 2E-9 ;OR = 0.08021). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT172351.1 lncRNA Pulmonary function measurement 0.33 N/A N/A N/A N/A N/A N/A NCRV0000002117 27126917 NONHSAT188473.1 rs62217115 G N/A 941 european ancestry individuals EFO_0008568 N/A Associate Night sleep phenotypes rs62217115-G of NONHSAT188473.1 is significantly associated with the night sleep phenotypes by using GWAS analysis in 941 european ancestry individuals(p-value = 3E-6 ;OR = 0.8833). 0.4 Genome-wide association analysis of actigraphic sleep phenotypes in the LIFE Adult Study. genome-wide association analysis NONHSAT188473.1 lncRNA Sleep disorder 0.33 N/A N/A N/A N/A N/A N/A NCRV0000002118 29221444 NONHSAT168072.1 rs9555620 ? N/A 345 african american cases//346 african american controls; 137 african american cases//68 african american controls EFO_0004723 N/A Associate Coronary artery calcified atherosclerotic plaque (90 or 130 hu threshold) in type 2 diabetes rs9555620-? of NONHSAT168072.1 is significantly associated with the coronary artery calcified atherosclerotic plaque (90 or 130 hu threshold) in type 2 diabetes by using GWAS analysis in 345 african american cases//346 african american controls; 137 african american cases//68 african american controls(p-value = 8E-6 ;OR = 0.31). 0.4 Genome-wide association study of coronary artery calcified atherosclerotic plaque in African Americans with type 2 diabetes. genome-wide association analysis NONHSAT168072.1 lncRNA Coronary artery calcification 0.33 GACTACAGGC(G > A)CATGTCACCA chr13: 109653368 0.5673,0.4327 0.62566099643221202,0.37433900356778797 Region score:0.3; TSS score:0.12; Unmatched score:0.02; Average GERP:-0.27792574257425745 GeneName:AL163541.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000285534; TranscriptID:ENST00000650264; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000065703; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002119 25282103 NONHSAT162935.1 rs1809889 T N/A 253,288 european ancestry individuals; 80,067 european ancestry individuals EFO_0004339 N/A Associate Height rs1809889-T of NONHSAT162935.1 is significantly associated with the height by using GWAS analysis in 253,288 european ancestry individuals; 80,067 european ancestry individuals(p-value = 4E-21 ;OR = 0.032). 0.4 Defining the role of common variation in the genomic and biological architecture of adult human height. genome-wide association analysis NONHSAT162935.1 lncRNA Body height 0.33 AGGGGATGTG(T > C)CACAAGAGTG chr12: 124316680 0.4579,0.5421 0.38767838939857288,0.61232161060142711 Region score:0.23; TSS score:0.4; Unmatched score:0.4; Average GERP:-0.5277514851485146 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000473003; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RFLNA; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000178882; TranscriptID:ENST00000389727; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002120 28358873 NEAT1 rs961706739 G Dominant 278 pRCC patients EFO_0000640 N/A poor prognosis papillary renal cell carcinoma rs961706739-G of NEAT1 and its dysfunction is significantly associated with the poor prognosis of Papillary renal cell carcinoma by using analysis of sequence variation in 278 pRCC patients 0.4 Whole-genome analysis of papillary kidney cancer finds significant noncoding alterations. analysis of sequence variation NEAT1 lncRNA Papillary renal cell carcinoma 0.33 GTGTGTGTGT(A > G)TGATTTTCTA chr11: 65429520 0 RS=961706739;RSPOS=65429520;dbSNPBuildID=150;SSR=0;SAO=0;VP=0x050000000005000002000100;GENEINFO=NEAT1:283131;WGT=1;VC=SNV;ASP - GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000264457; AnnoType:REGULATORY; mirSVR-Score:-0.0000; mirSVR-E:-14.23 | GeneName:NEAT1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000245532; TranscriptID:ENST00000501122; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0000; mirSVR-E:-14.23 | NCRV0000002121 24824216 NONHSAT144993.2 rs9895098 C N/A 1,052 european ancestry male cases//1,019 european ancestry female cases//709 european ancestry male controls//826 european ancestry female controls//675 african american/african caribbean male cases//837 african american/african caribbean female cases//577 african american/african caribbean male controls//926 african american/african caribbean female controls//926 latino male cases//710 latino female cases//410 latino male controls//382 latino female controls EFO_0000270 N/A Associate Asthma (sex interaction) rs9895098-C of NONHSAT144993.2 is significantly associated with the asthma (sex interaction) by using GWAS analysis in 1,052 european ancestry male cases//1,019 european ancestry female cases//709 european ancestry male controls//826 european ancestry female controls//675 african american/african caribbean male cases//837 african american/african caribbean female cases//577 african american/african caribbean male controls//926 african american/african caribbean female controls//926 latino male cases//710 latino female cases//410 latino male controls//382 latino female controls(p-value = 3E-7 ;OR = 2.31). 0.4 Genome-wide interaction studies reveal sex-specific asthma risk alleles. genome-wide association analysis NONHSAT144993.2 lncRNA Asthma 0.33 GAAAGAGGCC(T > C)GTACGTTCTG chr17: 3035239 0.8095,0.1905 0.82914436799184505,0.17085563200815494 Region score:0.34; TSS score:0.85; Unmatched score:0.83; Average GERP:0.5047950495049508 GeneName:RAP1GAP2; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000132359; TranscriptID:ENST00000254695; AnnoType:3PRIME_UTR; mirSVR-Score:-0.0253; mirSVR-E:-23.79 | NCRV0000002122 28892062 NONHSAT168677.1 rs7141420 T N/A up to 72,390 japanese ancestry women//up to 85,894 japanese ancestry men; up to 10,048 japanese ancestry women//up to 5,098 japanese ancestry men//up to 181,999 european ancestry women//up to 140,155 european ancestry controls EFO_0001073 N/A Associate Body mass index rs7141420-T of NONHSAT168677.1 is significantly associated with the body mass index by using GWAS analysis in up to 72,390 japanese ancestry women//up to 85,894 japanese ancestry men; up to 10,048 japanese ancestry women//up to 5,098 japanese ancestry men//up to 181,999 european ancestry women//up to 140,155 european ancestry controls(p-value = 7E-15 ;OR = 0.019). 0.4 Genome-wide association study identifies 112 new loci for body mass index in the Japanese population. genome-wide association analysis NONHSAT168677.1 lncRNA Obesity 0.625 AGGTTGGATC(C > T)ATTGTGCTTC chr14: 79433111 0.4375,0.5625 0.45081549439347604,0.54918450560652395 Region score:0.31; TSS score:0.16; Unmatched score:0.02; Average GERP:0.8516841584158413 GeneName:NRXN3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000021645; TranscriptID:ENST00000635466; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002122 28443625 NONHSAT168677.1 rs7141420 T N/A 98,173 european ancestry women//64,373 european ancestry men//5,829 european ancestry individuals//10,500 african american/afro-caribbean ancestry women//2,706 african american/afro-caribbean ancestry men//1,030 indian asian ancestry women//7,648 indian asian ancestry men//1,793 filipino ancestry women//2,944 hispanic/latino ancestry women//1,764 hispanic/latino ancestry men; 21,496 european ancestry women//24,385 european ancestry men//118,364 european ancestry individuals//2,326 african american/afro-caribbean ancestry women//855 african american/afro-caribbean ancestry men EFO_0001073 adjusted for smoking behaviour Associate Bmi (adjusted for smoking behaviour) rs7141420-T of NONHSAT168677.1 is significantly associated with the bmi (adjusted for smoking behaviour) by using GWAS analysis in 98,173 european ancestry women//64,373 european ancestry men//5,829 european ancestry individuals//10,500 african american/afro-caribbean ancestry women//2,706 african american/afro-caribbean ancestry men//1,030 indian asian ancestry women//7,648 indian asian ancestry men//1,793 filipino ancestry women//2,944 hispanic/latino ancestry women//1,764 hispanic/latino ancestry men; 21,496 european ancestry women//24,385 european ancestry men//118,364 european ancestry individuals//2,326 african american/afro-caribbean ancestry women//855 african american/afro-caribbean ancestry men(p-value = 3E-11 ;OR = 0.0278). 0.4 Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits. genome-wide association analysis NONHSAT168677.1 lncRNA Obesity 0.625 AGGTTGGATC(C > T)ATTGTGCTTC chr14: 79433111 0.4375,0.5625 0.45081549439347604,0.54918450560652395 Region score:0.31; TSS score:0.16; Unmatched score:0.02; Average GERP:0.8516841584158413 GeneName:NRXN3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000021645; TranscriptID:ENST00000635466; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002122 25673413 NONHSAT168677.1 rs7141420 T N/A up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals EFO_0001073 N/A Associate Body mass index rs7141420-T of NONHSAT168677.1 is significantly associated with the body mass index by using GWAS analysis in up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals(p-value = 1E-11 ;OR = 0.026). 0.4 Genetic studies of body mass index yield new insights for obesity biology. genome-wide association analysis NONHSAT168677.1 lncRNA Obesity 0.625 AGGTTGGATC(C > T)ATTGTGCTTC chr14: 79433111 0.4375,0.5625 0.45081549439347604,0.54918450560652395 Region score:0.31; TSS score:0.16; Unmatched score:0.02; Average GERP:0.8516841584158413 GeneName:NRXN3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000021645; TranscriptID:ENST00000635466; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002122 28448500 NONHSAT168677.1 rs7141420 ? N/A 2,518 african american women//86,278 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//55,137 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men EFO_0001073 joint analysis main effects and physical activity interaction Associate Body mass index (joint analysis main effects and physical activity interaction) rs7141420-? of NONHSAT168677.1 is significantly associated with the body mass index (joint analysis main effects and physical activity interaction) by using GWAS analysis in 2,518 african american women//86,278 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//55,137 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men(p-value = 2E-11 ;OR = ?). 0.4 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. genome-wide association analysis NONHSAT168677.1 lncRNA Obesity 0.625 AGGTTGGATC(C > T)ATTGTGCTTC chr14: 79433111 0.4375,0.5625 0.45081549439347604,0.54918450560652395 Region score:0.31; TSS score:0.16; Unmatched score:0.02; Average GERP:0.8516841584158413 GeneName:NRXN3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000021645; TranscriptID:ENST00000635466; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002122 23563607 NONHSAT168677.1 rs7141420 T N/A 93,015 european ancestry overweight individuals//32,858 european ancestry class i obese individuals//9,889 european ancestry class ii obese individuals//2,896 european ancestry class iii obese individuals//up to 65,840 european ancestry controls; 65,332 european ancestry overweight individuals//22,373 european ancestry class i obese individuals//5,476 european ancestry class ii obese individuals//1,162 european ancestry class iii obese individuals//up to 39,294 european ancestry controls EFO_0001073 N/A Associate Obesity rs7141420-T of NONHSAT168677.1 is significantly associated with the obesity by using GWAS analysis in 93,015 european ancestry overweight individuals//32,858 european ancestry class i obese individuals//9,889 european ancestry class ii obese individuals//2,896 european ancestry class iii obese individuals//up to 65,840 european ancestry controls; 65,332 european ancestry overweight individuals//22,373 european ancestry class i obese individuals//5,476 european ancestry class ii obese individuals//1,162 european ancestry class iii obese individuals//up to 39,294 european ancestry controls(p-value = 1E-17 ;OR = 1.08). 0.4 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. genome-wide association analysis NONHSAT168677.1 lncRNA Obesity 0.625 AGGTTGGATC(C > T)ATTGTGCTTC chr14: 79433111 0.4375,0.5625 0.45081549439347604,0.54918450560652395 Region score:0.31; TSS score:0.16; Unmatched score:0.02; Average GERP:0.8516841584158413 GeneName:NRXN3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000021645; TranscriptID:ENST00000635466; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002122 28448500 NONHSAT168677.1 rs7141420 T N/A 2,518 african american women//86,278 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//55,137 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men EFO_0001073 joint analysis main effects and physical activity interaction Associate Body mass index rs7141420-T of NONHSAT168677.1 is significantly associated with the body mass index by using GWAS analysis in 2,518 african american women//86,278 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//55,137 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men(p-value = 1E-10 ;OR = 0.0241). 0.4 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. genome-wide association analysis NONHSAT168677.1 lncRNA Obesity 0.625 AGGTTGGATC(C > T)ATTGTGCTTC chr14: 79433111 0.4375,0.5625 0.45081549439347604,0.54918450560652395 Region score:0.31; TSS score:0.16; Unmatched score:0.02; Average GERP:0.8516841584158413 GeneName:NRXN3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000021645; TranscriptID:ENST00000635466; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002123 27089181 NONHSAT221237.1 rs2149351 T N/A 170,911 european ancestry individuals EFO_0007660 N/A Associate Neuroticism rs2149351-T of NONHSAT221237.1 is significantly associated with the neuroticism by using GWAS analysis in 170,911 european ancestry individuals(p-value = 4E-6 ;OR = 0.018736271). 0.4 Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses. genome-wide association analysis NONHSAT221237.1 lncRNA Neuroticism measurement 0.33 AAGGAATTGA(T > G)AAAAGCACTG chr9: 117739366 0.1444,0.8556 0.18378089959225280,0.81621910040774719 Region score:0.49; TSS score:0.36; Unmatched score:0.11; Average GERP:-1.2989059405940595 GeneName:AL160272.2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000285082; TranscriptID:ENST00000646089; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000892357; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002124 27863252 NONHSAT211174.1 rs71736125 T N/A 164,339 european ancestry individuals EFO_0007985 N/A Associate Plateletcrit rs71736125-T of NONHSAT211174.1 is significantly associated with the plateletcrit by using GWAS analysis in 164,339 european ancestry individuals(p-value = 1E-21 ;OR = 0.04309661). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT211174.1 lncRNA Plateletcrit 0.33 CAGCAGTCTG(TCC > T)CCCCCCAGGG chr6: 134730180 0.8413,0.1587 0.84198203363914373,0.15801796636085626 N/A GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000806252; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000806253; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002125 27310251 miR-501 rs112489955 A N/A 695 patients with HCC and 605 healthy controls EFO_0000182 N/A increasing risk hepatocellular carcinoma rs112489955-A of hsa-mir-501 and its dysfunction is significantly associated with the increasing risk of Hepatocellular carcinoma by using case-control analysis in 695 patients with HCC and 605 healthy controls 0.9 A Function Variant at miR-501 Alters Susceptibility to Hepatocellular Carcinoma in a Chinese Han Population. case-control analysis hsa-mir-501 miRNA Hepatocellular carcinoma 0.593 CAATGCACCC(G > A,T)GGCAAGGATT chrX: 50009781 0.9883,0.01166,. 0.98462984199796126,0.01536219418960244,0.00000796381243628 Region score:0.61; TSS score:0.24; Unmatched score:0.51; Average GERP:1.2123584158415843 GeneName:CLCN5; CADD-Score:2; Consquence:intron; GeneID:ENSG00000171365; TranscriptID:ENST00000376088; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR362; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000208015; TranscriptID:ENST00000385280; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR500A; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207785; TranscriptID:ENST00000385051; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR500B; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000239057; TranscriptID:ENST00000458843; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR501; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000211538; TranscriptID:ENST00000390204; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR502; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000272080; TranscriptID:ENST00000606349; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR660; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207970; TranscriptID:ENST00000385235; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002126 23382691 NONHSAT173412.1 rs300032 G N/A 2,247 european ancestry individuals EFO_0002690 N/A Associate Igg glycosylation rs300032-G of NONHSAT173412.1 is significantly associated with the igg glycosylation by using GWAS analysis in 2,247 european ancestry individuals(p-value = 3E-7 ;OR = 0.2336). 0.4 Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. genome-wide association analysis NONHSAT173412.1 lncRNA Systemic lupus erythematosus 0.33 AGAGGGGATT(G > A)TGGGAGCTCA chr16: 86647390 0.3662,0.6338 0.27588239041794087,0.72411760958205912 Region score:0.19; TSS score:0.16; Unmatched score:0.05; Average GERP:0.11558415841584152 GeneName:AC009154.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000261161; TranscriptID:ENST00000565822; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002127 29304813 miR-26a-1 rs7372209 T N/a 287 myocardial infarction cases and 646 control subjects EFO_0000612 N/A No significance for risk Myocardial infarction rs7372209-T of miR-26a-1 and its dysfunction is not significantly associated with myocardial infarction by using case-control analysis in 287 myocardial infarction cases and 646 control subjects. -0.4 The association between pre-miR-27a rs895819 polymorphism and myocardial infarction risk in a Chinese Han population. case-control analysis hsa-mir-26a-1 miRNA Myocardial infarction -0.33 ATTAATCCTT(T > C)GTACCACGTG chr3: 37969217 0.2015,0.7985 0.21918800968399592,0.78081199031600407 Region score:0.25; TSS score:0.19; Unmatched score:0.58; Average GERP:0.42166831683168315 GeneName:CTDSPL; CADD-Score:2; Consquence:intron; GeneID:ENSG00000144677; TranscriptID:ENST00000273179; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR26A1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000199075; TranscriptID:ENST00000362205; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000682913; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002128 22754043 NONHSAT156104.1 rs2065779 ? N/A 2,402 european ancestry individuals from 1,470 families EFO_0004698 caffeine-induced Associate Insomnia (caffeine-induced) rs2065779-? of NONHSAT156104.1 is significantly associated with the insomnia (caffeine-induced) by using GWAS analysis in 2,402 european ancestry individuals from 1,470 families(p-value = 3E-6 ;OR = 1.82). 0.4 A genome-wide association study of caffeine-related sleep disturbance: confirmation of a role for a common variant in the adenosine receptor. genome-wide association analysis NONHSAT156104.1 lncRNA Insomnia 0.33 TGTCCCCCAG(G > A,C)AGTGGCCCTT chr10: 111118043 0.6607,.,0.3393 0.76367386595310907,0.00000796381243628,0.23631817023445463 Region score:0.39; TSS score:0.21; Unmatched score:0.18; Average GERP:0.576423762376238 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002129 26926045 NONHSAT207771.1 rs6901317 ? N/A 6,357 latin american individuals EFO_0007823 N/A Associate Beard thickness rs6901317-? of NONHSAT207771.1 is significantly associated with the beard thickness by using GWAS analysis in 6,357 latin american individuals(p-value = 4E-8 ;OR = ?). 0.4 A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features. genome-wide association analysis NONHSAT207771.1 lncRNA Facial hair thickness measurement 0.33 TTCAGCGCAG(T > G)CTGCAGCAGG chr6: 105588276 0.3524,0.6476 0.31265131243628950,0.68734868756371049 Region score:0.32; TSS score:0.43; Unmatched score:0.26; Average GERP:0.2784782178217819 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002130 28166213 NONHSAT160875.1 rs567508 A N/A 48,943 european ancestry individuals.; 57,176 european ancestry individuals//38,199 individuals. EFO_0000341 N/A Associate Lung function (fev1) rs567508-A of NONHSAT160875.1 is significantly associated with the lung function (fev1) by using GWAS analysis in 48,943 european ancestry individuals.; 57,176 european ancestry individuals//38,199 individuals.(p-value = 5E-10 ;OR = 0.034). 0.4 Genome-wide association analyses for lung function and chronic obstructive pulmonary disease identify new loci and potential druggable targets. genome-wide association analysis NONHSAT160875.1 lncRNA Chronic obstructive pulmonary disease 0.33 AAAAACCATT(G > A)TTATTAATAA chr11: 126139015 0.3397,0.6603 0.25370317278287461,0.74629682721712538 Region score:0.3; TSS score:0.49; Unmatched score:0.38; Average GERP:-0.5944039603960396 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002131 20418890 NONHSAT135331.2 rs3025343 G N/A up to 74,035 european ancestry individuals; up to 68,988 participants EFO_0004318 N/A Associate Smoking behavior rs3025343-G of NONHSAT135331.2 is significantly associated with the smoking behavior by using GWAS analysis in up to 74,035 european ancestry individuals; up to 68,988 participants(p-value = 4E-8 ;OR = 1.12). 0.4 Genome-wide meta-analyses identify multiple loci associated with smoking behavior. genome-wide association analysis NONHSAT135331.2 lncRNA Smoking behavior 0.33 CCTTTGTTTG(G > A)TCGTTGAATT chr9: 133613233 0.9651,0.03494 0.93220406472986748,0.06779593527013251 Region score:0.43; TSS score:0.49; Unmatched score:0.48; Average GERP:-1.1228415841584158 GeneName:AC002101.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000261018; TranscriptID:ENST00000564021; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002132 28031287 NONHSAT221505.1 rs13631 ? N/A 133 japanese ancestry individuals. EFO_0005772 N/A Associate Cerebrospinal fluid biomarker levels rs13631-? of NONHSAT221505.1 is significantly associated with the cerebrospinal fluid biomarker levels by using GWAS analysis in 133 japanese ancestry individuals.(p-value = 7E-14 ;OR = ?). 0.4 Genome-wide quantitative trait loci mapping of the human cerebrospinal fluid proteome. genome-wide association analysis NONHSAT221505.1 lncRNA Neurodegenerative disease 0.33 TGGCGGCTCT(G > A)AGATCTGCAA chr9: 137111750 0.4852,0.5148 0.54192150866462793,0.45807849133537206 Region score:0.21; TSS score:0.34; Unmatched score:0.72; Average GERP:0.9465198019801971 GeneName:DPP7; CADD-Score:5; Consquence:synonymous; GeneID:ENSG00000176978; TranscriptID:ENST00000371579; AnnoType:SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MAN1B1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000177239; TranscriptID:ENST00000371589; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002133 22778062 SNORD114-7 rs72700530 C N/a N/a function N/A Significant changes in the structure Function rs72700530-C of SNORD114-7 and its dysfunction having significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD114-7 snoRNA Function 0.049 CTGAGACTCT(G > C)AGGTTAGTAC chr14: 100963122 0.8946,0.1054 0.83413767838939857,0.16586232161060142 Region score:0.37; TSS score:0.15; Unmatched score:0.56; Average GERP:-1.784555445544555 GeneName:MEG8; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000225746; TranscriptID:ENST00000638012; AnnoType:INTRONIC; mirSVR-Score:-0.2068; mirSVR-E:-18.19 | GeneName:SNORD114-10; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000200279; TranscriptID:ENST00000363409; AnnoType:UPSTREAM; mirSVR-Score:-0.2068; mirSVR-E:-18.19 | GeneName:SNORD114-11; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000200608; TranscriptID:ENST00000363738; AnnoType:UPSTREAM; mirSVR-Score:-0.2068; mirSVR-E:-18.19 | GeneName:SNORD114-7; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000199390; TranscriptID:ENST00000362520; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.2068; mirSVR-E:-18.19 | GeneName:SNORD114-9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000201240; TranscriptID:ENST00000364370; AnnoType:UPSTREAM; mirSVR-Score:-0.2068; mirSVR-E:-18.19 | NCRV0000002134 21782286 NONHSAT186492.1 rs10202497 C N/A 16,995 european ancestry individuals GO_0007568 N/A Associate Aging (time to event) rs10202497-C of NONHSAT186492.1 is significantly associated with the aging (time to event) by using GWAS analysis in 16,995 european ancestry individuals(p-value = 8E-6 ;OR = 1.12). 0.4 A genome-wide association study of aging. genome-wide association analysis NONHSAT186492.1 lncRNA Aging 0.33 CATGACCACC(C > A,T)TTCCTTGGAA chr2: 237362251 0.8462,0.1538,. 0.84501624617737003,0.15498375382262996,. Region score:0.37; TSS score:0.33; Unmatched score:0.38; Average GERP:-1.4271504950495042 GeneName:COL6A3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000163359; TranscriptID:ENST00000295550; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002135 22889921 NONHSAT028154.2 rs297941 ? N/A 1,279 european ancestry cases//5,139 european ancestry controls//299 european ancestry trios//93 south african afrikaner ancestry cases//158 south african afrikaner ancestry controls//93 ashkenazi jewish cases//260 ashkenazi jewish controls//101 hispanic and unknown ancestry trios EFO_0004242 N/A Associate Obsessive-compulsive disorder rs297941-? of NONHSAT028154.2 is significantly associated with the obsessive-compulsive disorder by using GWAS analysis in 1,279 european ancestry cases//5,139 european ancestry controls//299 european ancestry trios//93 south african afrikaner ancestry cases//158 south african afrikaner ancestry controls//93 ashkenazi jewish cases//260 ashkenazi jewish controls//101 hispanic and unknown ancestry trios(p-value = 5E-7 ;OR = 1.23). 0.4 Genome-wide association study of obsessive-compulsive disorder. genome-wide association analysis NONHSAT028154.2 lncRNA Obsessive-compulsive disorder 0.33 AAAATCCTGC(A > G,T)AAGTTCATTC chr12: 49925303 0.4507,0.5493,. 0.43986525229357798,0.56007900101936799,0.00005574668705402 Region score:0.19; TSS score:0.06; Unmatched score:0.28; Average GERP:0.1165237623762377 GeneName:LINC02395; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000257771; TranscriptID:ENST00000546821; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002136 26152337 hsa-mir-605 rs2043556 C N/a 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs2043556-C of hsa-mir-605 and its dysfunction is not significantly associated with hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors. -0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. case-control analysis hsa-mir-605 miRNA Hepatocellular cancer -0.33 AGATTTAGAA(T > C)CAAGTTAGGA chr10: 51299646 0.7404,0.2596 0.75316163353720693,0.24683836646279306 Region score:0.25; TSS score:0.08; Unmatched score:0.47; Average GERP:-0.3992871287128711 GeneName:AC069079.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000235279; TranscriptID:ENST00000419889; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR605; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207813; TranscriptID:ENST00000385078; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PRKG1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000185532; TranscriptID:ENST00000373980; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002137 27863252 NONHSAT017531.2 rs2239897 G N/A 164,339 european ancestry individuals EFO_0007985 N/A Associate Plateletcrit rs2239897-G of NONHSAT017531.2 is significantly associated with the plateletcrit by using GWAS analysis in 164,339 european ancestry individuals(p-value = 4E-9 ;OR = 0.04672705). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT017531.2 lncRNA Plateletcrit 0.33 CCGAGCACCA(A > G)CTCCCCATGC chr11: 2870735 0.7865,0.2135 0.89497324159021406,0.10502675840978593 Region score:0.35; TSS score:0.59; Unmatched score:0.87; Average GERP:-1.894428712871289 GeneName:AC013791.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000274740; TranscriptID:ENST00000616619; AnnoType:UPSTREAM; mirSVR-Score:-0.1424; mirSVR-E:-19.50 | GeneName:KCNQ1DN; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000237941; TranscriptID:ENST00000441418; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.1424; mirSVR-E:-19.50 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000421747; AnnoType:REGULATORY; mirSVR-Score:-0.1424; mirSVR-E:-19.50 | NCRV0000002138 28928442 NONHSAT208980.1 rs1055821 T N/A 52,487 european ancestry cases//22,017 european ancestry controls EFO_0008408 N/A Associate Strep throat rs1055821-T of NONHSAT208980.1 is significantly associated with the strep throat by using GWAS analysis in 52,487 european ancestry cases//22,017 european ancestry controls(p-value = 8E-11 ;OR = 0.08). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. genome-wide association analysis NONHSAT208980.1 lncRNA Susceptibility to strep throat measurement 0.33 GGACACAAGG(G > T)TGGGCTGTCT chr6: 31354142 0.9291,0.07089 0.93850344036697247,0.06149655963302752 Region score:0.34; TSS score:0.52; Unmatched score:0.76; Average GERP:-0.4379564356435644 GeneName:AL671883.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000271581; TranscriptID:ENST00000603274; AnnoType:UPSTREAM; mirSVR-Score:-0.3231; mirSVR-E:-16.08 | GeneName:HLA-B; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000234745; TranscriptID:ENST00000412585; AnnoType:3PRIME_UTR; mirSVR-Score:-0.3231; mirSVR-E:-16.08 | GeneName:MIR6891; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000277402; TranscriptID:ENST00000618788; AnnoType:DOWNSTREAM; mirSVR-Score:-0.3231; mirSVR-E:-16.08 | NCRV0000002139 28604730 NONHSAT004062.2 rs34517439 A N/A 11,273 european ancestry cases// 55,483 european ancestry controls EFO_0000571 N/A Associate Lung adenocarcinoma rs34517439-A of NONHSAT004062.2 is significantly associated with the lung adenocarcinoma by using GWAS analysis in 11,273 european ancestry cases// 55,483 european ancestry controls(p-value = 4E-8 ;OR = 1.1652228). 0.4 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. genome-wide association analysis NONHSAT004062.2 lncRNA Lung adenocancer 0.33 TTCACACAAA(C > A)TTTTCTTAGA chr1: 77984833 0.9724,0.02756 0.93118469673802242,0.06881530326197757 Region score:0.4; TSS score:0.12; Unmatched score:0.11; Average GERP:0.1963623762376238 GeneName:DNAJB4; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000162616; TranscriptID:ENST00000487931; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GIPC2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000137960; TranscriptID:ENST00000476882; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002140 22778062 SNORD115-21 rs72546356 C N/a N/a function N/A Not significant changes in the structure Function rs72546356-C of SNORD115-21 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD115-21 snoRNA Function -0.049 CCCTCGGTTG(G > C)GTCGATGATG chr15: 25208084 0.9842,0.01577 0.97411760958205912,0.02588239041794087 Region score:0.45; TSS score:0.09; Unmatched score:0.55; Average GERP:-0.4394851485148507 GeneName:SNHG14; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000224078; TranscriptID:ENST00000424333; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORD115-18; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000200163; TranscriptID:ENST00000363293; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORD115-19; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000199968; TranscriptID:ENST00000363098; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORD115-20; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000201969; TranscriptID:ENST00000365099; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORD115-21; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000199833; TranscriptID:ENST00000362963; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORD115-22; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000201326; TranscriptID:ENST00000364456; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORD115-23; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000201331; TranscriptID:ENST00000364461; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002141 23251661 NONHSAT171056.1 rs7163013 G N/A 815 hispanic children from 263 families EFO_0005116 N/A Associate Obesity-related traits rs7163013-G of NONHSAT171056.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 9E-6 ;OR = 0.04). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. genome-wide association analysis NONHSAT171056.1 lncRNA Urinary metabolite measurement 0.33 TGCTAGGGGC(C > A,T)GAACACTCCT chr15: 78406417 0.3658,.,0.6342 0.37819348878695208,0.00000796381243628,0.62179854740061162 Region score:0.36; TSS score:0.34; Unmatched score:0.2; Average GERP:0.1095445544554456 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002142 27863252 NONHSAT051755.2 rs3760047 A N/A 172,851 european ancestry individuals EFO_0004527 N/A Associate Mean corpuscular hemoglobin concentration rs3760047-A of NONHSAT051755.2 is significantly associated with the mean corpuscular hemoglobin concentration by using GWAS analysis in 172,851 european ancestry individuals(p-value = 6E-69 ;OR = 0.077834). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT051755.2 lncRNA Mean corpuscular hemoglobin 0.33 GAGGAAGTGG(G > A,T)GCTGCAGATC chr16: 231300 0.2226,0.7774,. 0.22386276758409785,0.77609741335372069,0.00003981906218144 Region score:0.36; TSS score:0.18; Unmatched score:0.63; Average GERP:0.16622079207920798 GeneName:FAM234A; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000167930; TranscriptID:ENST00000399932; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LUC7L; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000007392; TranscriptID:ENST00000293872; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000082146; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:Z69890.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000206168; TranscriptID:ENST00000382990; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002143 23259602 NONHSAT208059.1 rs9402592 ? N/A 1,483 european ancestry comparatively younger individuals//5,960 european ancestry comparatively older individuals EFO_0003819 N/A Associate Dental caries rs9402592-? of NONHSAT208059.1 is significantly associated with the dental caries by using GWAS analysis in 1,483 european ancestry comparatively younger individuals//5,960 european ancestry comparatively older individuals(p-value = 3E-6 ;OR = ?). 0.4 Genome-wide association scan of dental caries in the permanent dentition. genome-wide association analysis NONHSAT208059.1 lncRNA Dental caries 0.33 CAGAAAAACC(G > A)TAATATTTAT chr6: 134398929 0.5717,0.4283 0.58678166411824668,0.41321833588175331 Region score:0.28; TSS score:0.16; Unmatched score:0.09; Average GERP:0.10916831683168297 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000806161; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002144 21793975 miR-135b hsa-mir-135b Deletion - Dominant 48 medulloblastomas EFO_0002939 N/A Increasing risk Medulloblastomas Deletion of miR-135b and its dysfunction is significantly associated with the increasing risk of medulloblastomas by using analysis of sequence variation in 48 medulloblastomas. 0.4 Genetic alterations in microRNAs in medulloblastomas. analysis of sequence variation; Function hsa-mir-135b miRNA Medulloblastoma 0.33 N/A N/A N/A N/A N/A N/A NCRV0000002145 24816252 NONHSAT179794.1 rs445925 A N/A up to 5,591 european ancestry individuals; up to 1,767 european ancestry individuals EFO_0005664 N/A Associate Blood metabolite ratios rs445925-A of NONHSAT179794.1 is significantly associated with the blood metabolite ratios by using GWAS analysis in up to 5,591 european ancestry individuals; up to 1,767 european ancestry individuals(p-value = 5E-23 ;OR = 0.089). 0.4 An atlas of genetic influences on human blood metabolites. genome-wide association analysis NONHSAT179794.1 lncRNA Blood metabolite measurement 0.33 GAAGGACAAA(G > A,C)AGCCCCCTTT chr19: 44912383 0.8502,0.1498,. 0.84554982161060142,0.15443425076452599,0.00001592762487257 Region score:0.32; TSS score:0.46; Unmatched score:0.37; Average GERP:-0.3876799999999996 GeneName:AC011481.3; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000280087; TranscriptID:ENST00000623895; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:APOC1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000130208; TranscriptID:ENST00000588750; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:APOE; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000130203; TranscriptID:ENST00000252486; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002146 26634245 NONHSAT205693.1 rs140065777 T N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio rs140065777-T of NONHSAT205693.1 is significantly associated with the post bronchodilator fev1/fvc ratio by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 4E-6 ;OR = 0.312). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT205693.1 lncRNA Pulmonary function measurement 0.33 AGCAAAGCTG(G > T)TTAAACAATA chr5: 45770380 0.9992,0.0007987 0.99981683231396534,0.00018316768603465 Region score:0.37; TSS score:0.23; Unmatched score:0.01; Average GERP:0.2126831683168317 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002147 27680694 NONHSAT128973.2 rs6989280 G N/A 133,903 european ancestry individuals//6,635 african american individuals//420 turkish ancestry individuals//365 moroccan ancestry individuals//395 surinamese ancestry individuals//840 chinese ancestry individuals.; 9,799 european ancestry individuals//1,449 filipino ancestry individuals. EFO_0004344 N/A Associate Birth weight rs6989280-G of NONHSAT128973.2 is significantly associated with the birth weight by using GWAS analysis in 133,903 european ancestry individuals//6,635 african american individuals//420 turkish ancestry individuals//365 moroccan ancestry individuals//395 surinamese ancestry individuals//840 chinese ancestry individuals.; 9,799 european ancestry individuals//1,449 filipino ancestry individuals.(p-value = 5E-8 ;OR = 0.0221). 0.4 Genome-wide associations for birth weight and correlations with adult disease. genome-wide association analysis NONHSAT128973.2 lncRNA Birth weight 0.33 TCTCTGCCCC(G > A)TTGTAGAGTA chr8: 125496504 0.4545,0.5455 0.55262487257900101,0.44737512742099898 Region score:0.35; TSS score:0.24; Unmatched score:0.08; Average GERP:-0.7042898019801979 GeneName:AC091114.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000253111; TranscriptID:ENST00000521991; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000868874; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002148 22005931 NONHSAT030969.2 rs17429217 ? N/A 1,190 european ancestry cases//1,032 cases EFO_0000249 N/A Associate Alzheimer's disease (age of onset) rs17429217-? of NONHSAT030969.2 is significantly associated with the alzheimer's disease (age of onset) by using GWAS analysis in 1,190 european ancestry cases//1,032 cases(p-value = 3E-6 ;OR = 2.436). 0.4 Genome-wide association analysis of age-at-onset in Alzheimer's disease. genome-wide association analysis NONHSAT030969.2 lncRNA Alzheimers disease 0.33 CAAAAAGTCC(A > G)CAATGGTGAG chr12: 116857528 0.9842,0.01577 0.98121336646279306,0.01878663353720693 Region score:0.47; TSS score:0.47; Unmatched score:0.21; Average GERP:0.5765504950495048 GeneName:HRK; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000135116; TranscriptID:ENST00000257572; AnnoType:3PRIME_UTR; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RNFT2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000135119; TranscriptID:ENST00000392549; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002149 24315451 NONHSAT053491.2 rs8069176 A N/A 5,131 european ancestry individuals//1,155 hispanic individuals//2,572 individuals EFO_0005536 N/A Associate Fractional exhaled nitric oxide (childhood) rs8069176-A of NONHSAT053491.2 is significantly associated with the fractional exhaled nitric oxide (childhood) by using GWAS analysis in 5,131 european ancestry individuals//1,155 hispanic individuals//2,572 individuals(p-value = 2E-8 ;OR = 0.066). 0.4 Fraction of exhaled nitric oxide values in childhood are associated with 17q11.2-q12 and 17q12-q21 variants. genome-wide association analysis NONHSAT053491.2 lncRNA Nitric oxide exhalation measurement 0.33 ACGGTGATTT(G > A,T)GTTTGCTGAT chr17: 39900944 0.6452,0.3548,. 0.60229517074413863,0.39765704638124362,0.00004778287461773 Region score:0.29; TSS score:0.08; Unmatched score:0.06; Average GERP:0.09621782178217829 GeneName:GSDMB; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000073605; TranscriptID:ENST00000418519; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002150 22959728 NONHSAT183890.1 rs1510510 ? N/A up to 4,243 european ancestry cases//up to 5,112 european ancestry controls EFO_0000253 N/A Associate Amyotrophic lateral sclerosis in c9orf72 mutation positive individuals rs1510510-? of NONHSAT183890.1 is significantly associated with the amyotrophic lateral sclerosis in c9orf72 mutation positive individuals by using GWAS analysis in up to 4,243 european ancestry cases//up to 5,112 european ancestry controls(p-value = 7E-6 ;OR = 1.3). 0.4 Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1. genome-wide association analysis NONHSAT183890.1 lncRNA Amyotrophic lateral sclerosis 0.33 TTATTTAATT(C > A)TTTGATGATG chr2: 238590694 0.7708,0.2292 0.80047464322120285,0.19952535677879714 Region score:0.33; TSS score:0.32; Unmatched score:0.06; Average GERP:-0.3834378217821782 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000641763; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002151 27863252 NONHSAT069783.2 rs11336847 A N/A 169,545 european ancestry individuals EFO_0007997 N/A Associate Granulocyte percentage of myeloid white cells rs11336847-A of NONHSAT069783.2 is significantly associated with the granulocyte percentage of myeloid white cells by using GWAS analysis in 169,545 european ancestry individuals(p-value = 1E-27 ;OR = 0.04012582). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT069783.2 lncRNA Granulocyte percentage of myeloid white cells 0.33 CTCATTTTTA(AT > A)TTTTTTTTTT chr2: 27526125 0.3127,0.6873 0.34765226809378185,0.65234773190621814 N/A GeneName:GCKR; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000084734; TranscriptID:ENST00000264717; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002152 29221444 NONHSAT214812.1 rs6944685 ? N/A 345 african american cases//346 african american controls; 137 african american cases//68 african american controls EFO_0004723 N/A Associate Coronary artery calcified atherosclerotic plaque (90 or 130 hu threshold) in type 2 diabetes rs6944685-? of NONHSAT214812.1 is significantly associated with the coronary artery calcified atherosclerotic plaque (90 or 130 hu threshold) in type 2 diabetes by using GWAS analysis in 345 african american cases//346 african american controls; 137 african american cases//68 african american controls(p-value = 9E-6 ;OR = 0.161). 0.4 Genome-wide association study of coronary artery calcified atherosclerotic plaque in African Americans with type 2 diabetes. genome-wide association analysis NONHSAT214812.1 lncRNA Coronary artery calcification 0.33 CATTGTTCGA(C > T)GTGGCCCTTT chr7: 85727431 0.7544,0.2456 0.69313837920489296,0.30686162079510703 Region score:0.55; TSS score:0.29; Unmatched score:0.05; Average GERP:-0.17066039603960395 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002153 28346442 NONHSAT183139.1 rs6755777 T N/A 2,966 european ancestry cases//40,941 european ancestry controls EFO_1001516 N/A Associate High-grade serous ovarian cancer rs6755777-T of NONHSAT183139.1 is significantly associated with the high-grade serous ovarian cancer by using GWAS analysis in 2,966 european ancestry cases//40,941 european ancestry controls(p-value = 5E-13 ;OR = 1.1282876). 0.4 Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer. genome-wide association analysis NONHSAT183139.1 lncRNA Ovarian serous cancer 0.33 GGAGACGCAG(T > A,G)AGCGCAGGCT chr2: 176178498 0.1843,.,0.8157 0.24060270132517838,0.00016724006116207,0.75923005861365953 Region score:0.39; TSS score:0.55; Unmatched score:0.96; Average GERP:1.5272277227722766 GeneName:HAGLR; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000224189; TranscriptID:ENST00000452365; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HAGLROS; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000226363; TranscriptID:ENST00000426615; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000629037; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002154 28017375 NONHSAT206981.1 rs198846 ? N/A up to 29,946 european ancestry individuals//up to 6150 african american individuals//15,074 east asian individuals.; 16,389 individuals of european and african american ancestry. EFO_0004526 N/A Associate Mean corpuscular volume rs198846-? of NONHSAT206981.1 is significantly associated with the mean corpuscular volume by using GWAS analysis in up to 29,946 european ancestry individuals//up to 6150 african american individuals//15,074 east asian individuals.; 16,389 individuals of european and african american ancestry.(p-value = 3E-37 ;OR = ?). 0.4 Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis. genome-wide association analysis NONHSAT206981.1 lncRNA Mean corpuscular volume 0.451 GTGGCCGGGG(A > G,T)AATGAGGACC chr6: 26107235 0.1072,0.8928,. 0.12598751274209989,0.86556288226299694,0.00844960499490316 Region score:0.31; TSS score:0.11; Unmatched score:0.15; Average GERP:0.041252475247524754 GeneName:HIST1H1T; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000187475; TranscriptID:ENST00000338379; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HIST1H4C; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000197061; TranscriptID:ENST00000377803; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002154 20139978 NONHSAT206981.1 rs198846 A N/A 14,364 japanese ancestry individuals EFO_0004526 N/A Associate Mean corpuscular volume rs198846-A of NONHSAT206981.1 is significantly associated with the mean corpuscular volume by using GWAS analysis in 14,364 japanese ancestry individuals(p-value = 2E-6 ;OR = 0.679). 0.4 Genome-wide association study of hematological and biochemical traits in a Japanese population. genome-wide association analysis NONHSAT206981.1 lncRNA Mean corpuscular volume 0.451 GTGGCCGGGG(A > G,T)AATGAGGACC chr6: 26107235 0.1072,0.8928,. 0.12598751274209989,0.86556288226299694,0.00844960499490316 Region score:0.31; TSS score:0.11; Unmatched score:0.15; Average GERP:0.041252475247524754 GeneName:HIST1H1T; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000187475; TranscriptID:ENST00000338379; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HIST1H4C; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000197061; TranscriptID:ENST00000377803; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002155 27322543 NONHSAT158561.1 rs2223089 ? N/A 59,674 european ancestry cases//316,078 european ancestry controls EFO_0003821 N/A Associate Migraine rs2223089-? of NONHSAT158561.1 is significantly associated with the migraine by using GWAS analysis in 59,674 european ancestry cases//316,078 european ancestry controls(p-value = 3E-8 ;OR = 1.0752687). 0.4 Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine. genome-wide association analysis NONHSAT158561.1 lncRNA Migraine disorder 0.33 CTTCCTCAAG(G > C)TGGTAATTGT chr10: 122450644 0.8712,0.1288 0.86911474260958205,0.13088525739041794 Region score:0.41; TSS score:0.7; Unmatched score:0.51; Average GERP:-0.3754018811881187 GeneName:ARMS2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000254636; TranscriptID:ENST00000528446; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:BX842242.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000285955; TranscriptID:ENST00000650300; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000418241; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002156 28604730 NONHSAT004060.2 rs17382996 A N/A 2,355 european ancestry cases// 7,504 european ancestry controls EFO_0001071 in ever smokers Associate Lung cancer in never smokers rs17382996-A of NONHSAT004060.2 is significantly associated with the lung cancer in never smokers by using GWAS analysis in 2,355 european ancestry cases// 7,504 european ancestry controls(p-value = 4E-6 ;OR = 1.5072039). 0.4 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. genome-wide association analysis NONHSAT004060.2 lncRNA Lung cancer 0.33 AAACTGAAAT(C > A)CCCTTCTGTC chr1: 77947094 0.988,0.01198 0.97351235983690112,0.02648764016309887 Region score:0.67; TSS score:0.41; Unmatched score:0.66; Average GERP:3.0314257425742572 GeneName:FUBP1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000162613; TranscriptID:ENST00000370768; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NEXN; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000162614; TranscriptID:ENST00000334785; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002157 22504420 NONHSAT195626.1 rs430727 T N/A up to 32,961 european and east asian ancestry individuals; up to 50,933 european and east asian ancestry individuals EFO_0003923 N/A Associate Bone mineral density rs430727-T of NONHSAT195626.1 is significantly associated with the bone mineral density by using GWAS analysis in up to 32,961 european and east asian ancestry individuals; up to 50,933 european and east asian ancestry individuals(p-value = 4E-25 ;OR = 0.06). 0.4 Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. genome-wide association analysis NONHSAT195626.1 lncRNA Bone density 0.33 AAAATATTTG(T > C)GCAGGGCTCC chr3: 41087073 0.5178,0.4822 0.45008282364933741,0.54991717635066258 Region score:0.3; TSS score:0.2; Unmatched score:0.05; Average GERP:-0.7443572277227721 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000683559; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002158 28031287 NONHSAT193841.1 rs6783573 ? N/A 133 japanese ancestry individuals. EFO_0005772 N/A Associate Cerebrospinal fluid biomarker levels rs6783573-? of NONHSAT193841.1 is significantly associated with the cerebrospinal fluid biomarker levels by using GWAS analysis in 133 japanese ancestry individuals.(p-value = 1E-15 ;OR = ?). 0.4 Genome-wide quantitative trait loci mapping of the human cerebrospinal fluid proteome. genome-wide association analysis NONHSAT193841.1 lncRNA Neurodegenerative disease 0.33 AGTCAATAAT(A > G)AAGTATTGCA chr3: 46559030 0.7931,0.2069 0.77036346839959225,0.22963653160040774 Region score:0.21; TSS score:0.3; Unmatched score:0.34; Average GERP:0.07506930693069298 GeneName:LRRC2-AS1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000268324; TranscriptID:ENST00000599511; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LRRC2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000163827; TranscriptID:ENST00000395905; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000151894; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002159 23555923 hsa-mir-146a rs2910164 G N/a 191 patients with tnbc and 192 healthy female controls EFO_0005537 N/A No significance for risk Triple-negative breast cancer rs2910164-G of hsa-mir-146a and its dysfunction is not significantly associated with Triple-negative breast cancer by using case-control analysis in 191 patients with TNBC and 192 healthy female controls. -0.4 There is no association between microRNA gene polymorphisms and risk of triple negative breast cancer in a Chinese Han population. case-control analysis hsa-mir-146a miRNA Triple-negative breast cancer -0.33 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 N/A 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002160 26778630 MIR137 rs58335419 4-repeat Dominant 230 healthy participants EFO_0000249 N/A Decreasing risk Alzheimer's disease rs58335419-4-repeat of MIR137 and its dysfunction is significantly associated with the decreasing risk of Alzheimer's disease by using analysis of sequence variation in 230 healthy participants . 0.4 A functional variant in MIR137, a candidate gene for schizophrenia, affects Stroop test performance in young adults. analysis of sequence variation hsa-mir-137 miRNA Alzheimers disease 0.33 GGACCAAGCT(G > GCCGCTGCCGCTGCTA)CCGCTGCCGC chr1: 98046177 N/A RS=58335419;RSPOS=98046223;dbSNPBuildID=129;SSR=0;SAO=0;VP=0x050028020005000002000200;GENEINFO=MIR137:406928|MIR2682:100616452|MIR137HG:400765;WGT=1;VC=DIV;PM;PMC;R5;ASP N/A GeneName:MIR137; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284202; TranscriptID:ENST00000385223; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR137HG; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000225206; TranscriptID:ENST00000634594; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR2682; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284247; TranscriptID:ENST00000580305; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000010436; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000366415; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002161 26152337 hsa-mir-933 rs79402775 A N/a 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs79402775-A of hsa-mir-933 and its dysfunction is not significantly associated with hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors. -0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. case-control analysis hsa-mir-933 miRNA Hepatocellular cancer -0.33 GGGTGGGAGA(G > A,T)GTCTCCCTGC chr2: 175167648 0.9407,0.05931,. 0.96871814475025484,0.03127389143730886,0.00000796381243628 Region score:0.37; TSS score:0.33; Unmatched score:0.93; Average GERP:-0.6697425742574256 GeneName:AC096649.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000229750; TranscriptID:ENST00000449168; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ATF2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000115966; TranscriptID:ENST00000264110; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR933; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000215973; TranscriptID:ENST00000401154; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000126686; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002162 23770605 NONHSAT129023.2 rs2466035 C N/A 2,179 european ancestry cases//6,221 european ancestry controls; 1,709 european ancestry cases//6,318 european ancestry controls EFO_0000095 N/A Associate Chronic lymphocytic leukemia rs2466035-C of NONHSAT129023.2 is significantly associated with the chronic lymphocytic leukemia by using GWAS analysis in 2,179 european ancestry cases//6,221 european ancestry controls; 1,709 european ancestry cases//6,318 european ancestry controls(p-value = 2E-8 ;OR = 1.21). 0.4 Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia. genome-wide association analysis NONHSAT129023.2 lncRNA Chronic lymphocytic leukemia 0.33 AGTACGTAAC(T > C)AGTAATGGGA chr8: 127198984 0.5499,0.4501 0.56265927624872579,0.43734072375127420 Region score:0.35; TSS score:0.3; Unmatched score:0.24; Average GERP:-0.22852277227722786 GeneName:CASC19; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000254166; TranscriptID:ENST00000641365; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PCAT1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000253438; TranscriptID:ENST00000646670; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002163 28199695 NONHSAT223867.1 rs150612032 T N/A 16,576 european ancestry individuals EFO_0008380 N/A Associate Perceived unattractiveness to mosquitoes rs150612032-T of NONHSAT223867.1 is significantly associated with the perceived unattractiveness to mosquitoes by using GWAS analysis in 16,576 european ancestry individuals(p-value = 8E-6 ;OR = 0.354303). 0.4 GWAS of self-reported mosquito bite size, itch intensity and attractiveness to mosquitoes implicates immune-related predisposition loci. genome-wide association analysis NONHSAT223867.1 lncRNA Perceived unattractiveness to mosquitos measurement 0.33 GCAGATATTC(C > A,T)ACTAGGATAG chrX: 41430333 0.9934,.,0.006623 0.98404051987767584,0.00000796381243628,0.01595151630988786 Region score:0.29; TSS score:0.27; Unmatched score:0.1; Average GERP:-0.24106722772277228 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002164 27327535 NONHSAT208975.1 rs2524069 T N/A 502 french ancestry individuals; EFO_0003784 N/A Associate Severity of facial solar lentigines rs2524069-T of NONHSAT208975.1 is significantly associated with the severity of facial solar lentigines by using GWAS analysis in 502 french ancestry individuals; (p-value = 3E-7 ;OR = ?). 0.4 A genome-wide association study in Caucasian women suggests the involvement of HLA genes in the severity of facial solar lentigines. genome-wide association analysis NONHSAT208975.1 lncRNA Skin pigmentation 0.33 GCCAAGAAAG(A > T)GGATAAAGAA chr6: 31277012 0.9353,0.0647 0.88464417686034658,0.11535582313965341 Region score:0.3; TSS score:0.35; Unmatched score:0.44; Average GERP:0.07490099009900986 GeneName:HLA-B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000234745; TranscriptID:ENST00000640615; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HLA-C; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000204525; TranscriptID:ENST00000376228; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RPL3P2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000227939; TranscriptID:ENST00000413027; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:USP8P1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000214892; TranscriptID:ENST00000494673; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002165 26584805 NONHSAT174062.1 rs2288061 G N/A 717 singaporean chinese ancestry myocardial infarction cases//644 singaporean chinese ancestry controls EFO_0007764 N/A Associate Delta-5 desaturase activity rs2288061-G of NONHSAT174062.1 is significantly associated with the delta-5 desaturase activity by using GWAS analysis in 717 singaporean chinese ancestry myocardial infarction cases//644 singaporean chinese ancestry controls(p-value = 7E-6 ;OR = 0.0904). 0.4 A genome-wide association study of n-3 and n-6 plasma fatty acids in a Singaporean Chinese population. genome-wide association analysis NONHSAT174062.1 lncRNA Delta-5 desaturase measurement 0.33 GCATGCGTAT(G > A,C)CCGCATTGCT chr16: 76135833 0.6603,0.3397,. 0.76434282619775739,0.23560142711518858,0.00005574668705402 Region score:0.2; TSS score:0.2; Unmatched score:0.08; Average GERP:0.09637524752475264 GeneName:AC099511.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000260223; TranscriptID:ENST00000564561; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002166 20139978 NONHSAT013359.2 rs7085433 A N/A up to 14,362 japanese ancestry individuals EFO_0004527 N/A Associate Mean corpuscular hemoglobin rs7085433-A of NONHSAT013359.2 is significantly associated with the mean corpuscular hemoglobin by using GWAS analysis in up to 14,362 japanese ancestry individuals(p-value = 6E-10 ;OR = 0.102). 0.4 Genome-wide association study of hematological and biochemical traits in a Japanese population. genome-wide association analysis NONHSAT013359.2 lncRNA Mean corpuscular hemoglobin 0.451 CATGCCTGGC(C > T)GTCACTAATC chr10: 46002468 0.9105,0.08946 0.90452981651376146,0.09547018348623853 Region score:0.49; TSS score:0.3; Unmatched score:0.41; Average GERP:0.035381188118811954 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000402503; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NCOA4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000266412; TranscriptID:ENST00000578454; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TIMM23; CADD-Score:2; Consquence:intron; GeneID:ENSG00000265354; TranscriptID:ENST00000580018; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002166 28017375 NONHSAT013359.2 rs7085433 ? N/A up to 21,020 european ancestry individuals//up to 3,621 african american individuals//up to 15,062 east asian individuals.; 16,389 individuals of european and african american ancestry. EFO_0004527 N/A Associate Mean corpuscular hemoglobin rs7085433-? of NONHSAT013359.2 is significantly associated with the mean corpuscular hemoglobin by using GWAS analysis in up to 21,020 european ancestry individuals//up to 3,621 african american individuals//up to 15,062 east asian individuals.; 16,389 individuals of european and african american ancestry.(p-value = 3E-8 ;OR = ?). 0.4 Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis. genome-wide association analysis NONHSAT013359.2 lncRNA Mean corpuscular hemoglobin 0.451 CATGCCTGGC(C > T)GTCACTAATC chr10: 46002468 0.9105,0.08946 0.90452981651376146,0.09547018348623853 Region score:0.49; TSS score:0.3; Unmatched score:0.41; Average GERP:0.035381188118811954 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000402503; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NCOA4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000266412; TranscriptID:ENST00000578454; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TIMM23; CADD-Score:2; Consquence:intron; GeneID:ENSG00000265354; TranscriptID:ENST00000580018; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002167 29186694 NONHSAT210968.1 rs768023 ? N/A 107,207 european ancestry individuals EFO_0008354 N/A Associate Cognitive ability rs768023-? of NONHSAT210968.1 is significantly associated with the cognitive ability by using GWAS analysis in 107,207 european ancestry individuals(p-value = 5E-16 ;OR = 8.102). 0.4 Large-Scale Cognitive GWAS Meta-Analysis Reveals Tissue-Specific Neural Expression and Potential Nootropic Drug Targets. genome-wide association analysis NONHSAT210968.1 lncRNA Cognitive function measurement 0.33 GAAGGCAAAC(G > A)CTGGCATGTG chr6: 108554799 0.5529,0.4471 0.51169087665647298,0.48830912334352701 Region score:0.36; TSS score:0.53; Unmatched score:0.4; Average GERP:-0.5707950495049505 GeneName:AL391646.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000271608; TranscriptID:ENST00000603860; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000801173; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002168 23969696 NONHSAT191834.1 rs4817986 T N/A 91,323 european ancestry individuals; 8,423 african american individuals//1,447 hispanic individuals EFO_0004623 N/A Associate Fibrinogen rs4817986-T of NONHSAT191834.1 is significantly associated with the fibrinogen by using GWAS analysis in 91,323 european ancestry individuals; 8,423 african american individuals//1,447 hispanic individuals(p-value = 2E-11 ;OR = 0.008). 0.4 Multiethnic meta-analysis of genome-wide association studies in >100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease. genome-wide association analysis NONHSAT191834.1 lncRNA Fibrinogen measurement 0.451 AAGGACTCTT(G > T)AATTTGTCCA chr21: 39093586 0.7959,0.2041 0.77718049184505606,0.22281950815494393 Region score:0.33; TSS score:0.31; Unmatched score:0.11; Average GERP:-0.6635356435643566 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002168 28107422 NONHSAT191834.1 rs4817986 ? N/A 91,953 european ancestry individuals (imputed to hapmap); EFO_0004623 N/A Associate Fibrinogen levels rs4817986-? of NONHSAT191834.1 is significantly associated with the fibrinogen levels by using GWAS analysis in 91,953 european ancestry individuals (imputed to hapmap); (p-value = 2E-14 ;OR = 0.0091). 0.4 Comparison of HapMap and 1000 Genomes Reference Panels in a Large-Scale Genome-Wide Association Study. genome-wide association analysis NONHSAT191834.1 lncRNA Fibrinogen measurement 0.451 AAGGACTCTT(G > T)AATTTGTCCA chr21: 39093586 0.7959,0.2041 0.77718049184505606,0.22281950815494393 Region score:0.33; TSS score:0.31; Unmatched score:0.11; Average GERP:-0.6635356435643566 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002169 28259691 HOTAIR rs4759314 A N/A 143 Iranian BPH patients and 250 normal male controls EFO_0000284 N/A no significance for risk benign prostatic hyperplasia rs4759314-A of HOTAIR and its dysfunction is not significantly associated with Benign prostatic hyperplasia by using case-control analysis in 143 Iranian BPH patients and 250 normal male controls -0.4 HOTAIR genetic variants are associated with prostate cancer and benign prostate hyperplasia in an Iranian population. case-control analysis HOTAIR lncRNA Benign prostatic hyperplasia -0.33 AAACAGGCCA(G > A)GCGGATGCAA chr12: 53968051 0.09505,0.905 0.06856046126401630,0.93143953873598369 Region score:0.43; TSS score:0.68; Unmatched score:0.83; Average GERP:2.8445544554455457 GeneName:AC012531.4; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000274817; TranscriptID:ENST00000616509; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC012531.5; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277129; TranscriptID:ENST00000611375; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOTAIR; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000228630; TranscriptID:ENST00000424518; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000458643; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01905; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000275589; TranscriptID:ENST00000611210; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01906; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000277994; TranscriptID:ENST00000611352; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002170 26733130 NONHSAT185435.1 rs55983207 C N/A up to 20,162 european ancestry individuals; 10,037 european and east asian ancestry individuals EFO_0007702 N/A Associate Bone mineral density (hip) rs55983207-C of NONHSAT185435.1 is significantly associated with the bone mineral density (hip) by using GWAS analysis in up to 20,162 european ancestry individuals; 10,037 european and east asian ancestry individuals(p-value = 3E-10 ;OR = 0.219). 0.4 Sequence variants in the PTCH1 gene associate with spine bone mineral density and osteoporotic fractures. genome-wide association analysis NONHSAT185435.1 lncRNA Hip bone mineral density 0.33 CTAGACAAAA(T > C)AGGAAATGTT chr2: 118772253 0.9864,0.01358 0.97719164118246687,0.02280835881753312 Region score:0.46; TSS score:0.35; Unmatched score:0.32; Average GERP:-0.36140009900990094 GeneName:LINC01956; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000258910; TranscriptID:ENST00000557729; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002171 25256182 NONHSAT119371.2 rs7798197 A N/A 2,617 european ancestry cases//2,548 european ancestry controls; 1,516 european ancestry cases//5,321 european ancestry controls EFO_0003870 N/A Associate Intracranial aneurysm rs7798197-A of NONHSAT119371.2 is significantly associated with the intracranial aneurysm by using GWAS analysis in 2,617 european ancestry cases//2,548 european ancestry controls; 1,516 european ancestry cases//5,321 european ancestry controls(p-value = 5E-6 ;OR = 1.18). 0.4 Genome-wide association study of intracranial aneurysm identifies a new association on chromosome 7. genome-wide association analysis NONHSAT119371.2 lncRNA Brain aneurysm 0.33 CATATTTGCT(A > G)GCTTATGTTA chr7: 18998038 0.6909,0.3091 0.74610569571865443,0.25389430428134556 Region score:0.39; TSS score:0.45; Unmatched score:0.46; Average GERP:1.6450762376237615 GeneName:HDAC9; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000048052; TranscriptID:ENST00000441542; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000818176; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002172 22778062 SNORD108 rs75793510 G N/a N/a function N/A Not significant changes in the structure Function rs75793510-G of SNORD108 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD108 snoRNA Function -0.049 GACACTTTCC(A > C,G)TTCCTGCAAA chr15: 24986971 0.9936,.,0.00639 0.99311926605504587,0.00002389143730886,0.00685684250764525 Region score:0.49; TSS score:0.16; Unmatched score:0.42; Average GERP:-0.8667262376237626 GeneName:AC124312.1; CADD-Score:2; Consquence:intron,NMD; GeneID:ENSG00000214265; TranscriptID:ENST00000551312; AnnoType:INTRONIC; mirSVR-Score:-0.0487; mirSVR-E:-16.65 | GeneName:AC124312.4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000270704; TranscriptID:ENST00000605533; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0487; mirSVR-E:-16.65 | GeneName:AC124312.5; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000271347; TranscriptID:ENST00000604451; AnnoType:UPSTREAM; mirSVR-Score:-0.0487; mirSVR-E:-16.65 | GeneName:PWAR5; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000279192; TranscriptID:ENST00000624480; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0487; mirSVR-E:-16.65 | GeneName:SNHG14; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000224078; TranscriptID:ENST00000557108; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0487; mirSVR-E:-16.65 | GeneName:SNORD107; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000276314; TranscriptID:ENST00000459433; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0487; mirSVR-E:-16.65 | GeneName:SNORD108; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000239014; TranscriptID:ENST00000459332; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0487; mirSVR-E:-16.65 | GeneName:SNORD64; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000276610; TranscriptID:ENST00000386683; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0487; mirSVR-E:-16.65 | NCRV0000002173 28448500 NONHSAT112682.2 rs2033529 ? N/A 2,518 african american women//86,278 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//55,137 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men EFO_0001073 joint analysis main effects and physical activity interaction Associate Body mass index (joint analysis main effects and physical activity interaction) rs2033529-? of NONHSAT112682.2 is significantly associated with the body mass index (joint analysis main effects and physical activity interaction) by using GWAS analysis in 2,518 african american women//86,278 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//55,137 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men(p-value = 3E-8 ;OR = ?). 0.4 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. genome-wide association analysis NONHSAT112682.2 lncRNA Obesity 0.565 CCTAATATCC(A > C,G)TGTAATGGCC chr6: 40380914 N/A 0.76669215086646279,0.01012200560652395,0.22318584352701325 Region score:0.41; TSS score:0.4; Unmatched score:0.28; Average GERP:0.9715643564356433 GeneName:TDRG1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000204091; TranscriptID:ENST00000373170; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002173 28448500 NONHSAT112682.2 rs2033529 G N/A 2,518 african american women//86,278 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//55,137 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men EFO_0001073 joint analysis main effects and physical activity interaction Associate Body mass index rs2033529-G of NONHSAT112682.2 is significantly associated with the body mass index by using GWAS analysis in 2,518 african american women//86,278 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//55,137 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men(p-value = 8E-8 ;OR = 0.0214). 0.4 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. genome-wide association analysis NONHSAT112682.2 lncRNA Obesity 0.565 CCTAATATCC(A > C,G)TGTAATGGCC chr6: 40380914 N/A 0.76669215086646279,0.01012200560652395,0.22318584352701325 Region score:0.41; TSS score:0.4; Unmatched score:0.28; Average GERP:0.9715643564356433 GeneName:TDRG1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000204091; TranscriptID:ENST00000373170; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002173 25673413 NONHSAT112682.2 rs2033529 G N/A up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals EFO_0001073 N/A Associate Body mass index rs2033529-G of NONHSAT112682.2 is significantly associated with the body mass index by using GWAS analysis in up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals(p-value = 1E-8 ;OR = 0.018). 0.4 Genetic studies of body mass index yield new insights for obesity biology. genome-wide association analysis NONHSAT112682.2 lncRNA Obesity 0.565 CCTAATATCC(A > C,G)TGTAATGGCC chr6: 40380914 N/A 0.76669215086646279,0.01012200560652395,0.22318584352701325 Region score:0.41; TSS score:0.4; Unmatched score:0.28; Average GERP:0.9715643564356433 GeneName:TDRG1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000204091; TranscriptID:ENST00000373170; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002173 28892062 NONHSAT112682.2 rs2033529 G N/A up to 72,390 japanese ancestry women//up to 85,894 japanese ancestry men; up to 10,048 japanese ancestry women//up to 5,098 japanese ancestry men//up to 181,999 european ancestry women//up to 140,155 european ancestry controls EFO_0001073 N/A Associate Body mass index rs2033529-G of NONHSAT112682.2 is significantly associated with the body mass index by using GWAS analysis in up to 72,390 japanese ancestry women//up to 85,894 japanese ancestry men; up to 10,048 japanese ancestry women//up to 5,098 japanese ancestry men//up to 181,999 european ancestry women//up to 140,155 european ancestry controls(p-value = 7E-10 ;OR = 0.015). 0.4 Genome-wide association study identifies 112 new loci for body mass index in the Japanese population. genome-wide association analysis NONHSAT112682.2 lncRNA Obesity 0.565 CCTAATATCC(A > C,G)TGTAATGGCC chr6: 40380914 N/A 0.76669215086646279,0.01012200560652395,0.22318584352701325 Region score:0.41; TSS score:0.4; Unmatched score:0.28; Average GERP:0.9715643564356433 GeneName:TDRG1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000204091; TranscriptID:ENST00000373170; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002174 28424481 NONHSAT181220.1 rs181132 T N/A 115 japanese ancestry female cases//419 japanese ancestry male and female controls EFO_0002689 N/A Associate Obstetric antiphospholipid syndrome rs181132-T of NONHSAT181220.1 is significantly associated with the obstetric antiphospholipid syndrome by using GWAS analysis in 115 japanese ancestry female cases//419 japanese ancestry male and female controls(p-value = 6E-6 ;OR = 2.631579). 0.4 The first genome-wide association study identifying new susceptibility loci for obstetric antiphospholipid syndrome. genome-wide association analysis NONHSAT181220.1 lncRNA Antiphospholipid syndrome 0.33 TTGCTGGTAG(T > A)ATTATTTGTT chr2: 8143059 0.5931,0.4069 0.53534339959225280,0.46465660040774719 Region score:0.27; TSS score:0.25; Unmatched score:0.47; Average GERP:-0.6231782178217827 GeneName:LINC00298; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000235665; TranscriptID:ENST00000456681; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LINC00299; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000236790; TranscriptID:ENST00000430192; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000112365; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:U91324.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000229740; TranscriptID:ENST00000442864; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002175 22916037 NONHSAT215396.1 rs4841132 ? N/A 6,608 european ancestry individuals EFO_0004723 N/A Associate Metabolite levels rs4841132-? of NONHSAT215396.1 is significantly associated with the metabolite levels by using GWAS analysis in 6,608 european ancestry individuals(p-value = 2E-9 ;OR = ?). 0.4 Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis. genome-wide association analysis NONHSAT215396.1 lncRNA Coronary artery calcification 0.33 CCAGGGCAGC(A > G)TCCAGCTGGT chr8: 9326086 0.09325,0.9067 0.09840086646279306,0.90159913353720693 Region score:0.46; TSS score:0.24; Unmatched score:0.62; Average GERP:-1.1010772277227727 GeneName:AC022784.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000248538; TranscriptID:ENST00000520390; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0795; mirSVR-E:-25.94 | NCRV0000002176 28566273 NONHSAT201627.1 rs4975241 C N/A up to 26,676 european ancestry cases//up to 132,532 european ancestry controls; up to 12,543 european ancestry cases//up to 66,458 european ancestry controls EFO_0001360 N/A Associate Type 2 diabetes rs4975241-C of NONHSAT201627.1 is significantly associated with the type 2 diabetes by using GWAS analysis in up to 26,676 european ancestry cases//up to 132,532 european ancestry controls; up to 12,543 european ancestry cases//up to 66,458 european ancestry controls(p-value = 5E-7 ;OR = 1.14). 0.4 An Expanded Genome-Wide Association Study of Type 2 Diabetes in Europeans. genome-wide association analysis NONHSAT201627.1 lncRNA Type ii diabetes mellitus 0.33 AATACTGAAA(G > C,T)TACAATTACT chr4: 128605841 0.8678,0.1322,. 0.90154338685015290,0.09840086646279306,0.00005574668705402 Region score:0.32; TSS score:0.26; Unmatched score:0.2; Average GERP:0.6734089108910891 GeneName:AC078850.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000248802; TranscriptID:ENST00000487657; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002177 24643999 miR-10b rs1348807 G N/A 365 gastric cancer cases and 1,284 matched controls within the European Prospective Investigation into Cancer and Nutrition cohort EFO_0000178 N/A no significance for risk gastric carcinoma rs1348807-G of hsa-mir-10b and its dysfunction is not significantly associated with Gastric carcinoma by using case-control analysis in 365 gastric cancer cases and 1,284 matched controls within the European Prospective Investigation into Cancer and Nutrition cohort -0.4 Genetic association of gastric cancer with miRNA clusters including the cancer-related genes MIR29, MIR25, MIR93 and MIR106: results from the EPIC-EURGAST study. case-control analysis hsa-mir-10b miRNA Gastric carcinoma -0.33 CCGTGGGTCT(C > A,T)GTCATTTACC chr2: 176141029 0.3552,.,0.6448 0.35725662589194699,0.00000796381243628,0.64273541029561671 Region score:0.37; TSS score:0.5; Unmatched score:0.68; Average GERP:-0.6600178217821782 GeneName:HOXD3; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000128652; TranscriptID:ENST00000459979; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXD-AS2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000237380; TranscriptID:ENST00000440016; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000126751; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000629031; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002178 28498854 NONHSAT163678.1 rs113866309 C N/A up to 31,155 african individuals; up to 4,187 african individuals//up to 14,016 korean ancestry individuals//up to 23,914 european ancestry individuals//up to 12,278 hispanic individuals EFO_0005763 N/A Associate Pulse pressure rs113866309-C of NONHSAT163678.1 is significantly associated with the pulse pressure by using GWAS analysis in up to 31,155 african individuals; up to 4,187 african individuals//up to 14,016 korean ancestry individuals//up to 23,914 european ancestry individuals//up to 12,278 hispanic individuals(p-value = 8E-9 ;OR = 2.2172). 0.4 Single-trait and multi-trait genome-wide association analyses identify novel loci for blood pressure in African-ancestry populations. genome-wide association analysis NONHSAT163678.1 lncRNA Pulse pressure measurement 0.33 TCCTACTCCA(T > C)TGCCCAGGGT chr12: 66123168 0.9934,0.006589 0.99316704892966360,0.00683295107033639 Region score:0.41; TSS score:0.6; Unmatched score:0.57; Average GERP:-0.2550594059405941 GeneName:AC078927.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000228144; TranscriptID:ENST00000539652; AnnoType:DOWNSTREAM; mirSVR-Score:-0.5155; mirSVR-E:-20.90 | GeneName:LLPH; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000139233; TranscriptID:ENST00000266604; AnnoType:3PRIME_UTR; mirSVR-Score:-0.5155; mirSVR-E:-20.90 | NCRV0000002179 27863252 NONHSAT200150.1 rs13122305 A N/A 169,545 european ancestry individuals EFO_0007997 N/A Associate Granulocyte percentage of myeloid white cells rs13122305-A of NONHSAT200150.1 is significantly associated with the granulocyte percentage of myeloid white cells by using GWAS analysis in 169,545 european ancestry individuals(p-value = 2E-11 ;OR = 0.0253314). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT200150.1 lncRNA Granulocyte percentage of myeloid white cells 0.33 AAGGGACACG(G > A)TTGCCTCAGA chr4: 83231820 0.4862,0.5138 0.49569954128440366,0.50430045871559633 Region score:0.31; TSS score:0.48; Unmatched score:0.43; Average GERP:-0.4054407920792079 GeneName:AC114781.2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250057; TranscriptID:ENST00000515670; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002180 28240269 NONHSAT210088.1 rs3763267 C N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0008299 N/A Associate Blood protein levels rs3763267-C of NONHSAT210088.1 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 9E-19 ;OR = 0.6074). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. genome-wide association analysis NONHSAT210088.1 lncRNA Thrombospondin-2 measurement 0.33 GAGCGTGCAA(T > C)GCAGCAGCAC chr6: 169171598 0.9225,0.07748 0.92848496432212028,0.07151503567787971 Region score:0.24; TSS score:0.46; Unmatched score:0.27; Average GERP:-0.4663960396039607 GeneName:LINC02544; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000261039; TranscriptID:ENST00000564830; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002181 21490949 NONHSAT171804.1 rs7119 T N/A 2,010 chinese ancestry cases//1,945 chinese ancestry controls//794 malay ancestry cases//1,240 malay ancestry controls//977 asian indian ancestry cases//1,169 asian indian ancestry controls EFO_0001360 N/A Associate Type 2 diabetes rs7119-T of NONHSAT171804.1 is significantly associated with the type 2 diabetes by using GWAS analysis in 2,010 chinese ancestry cases//1,945 chinese ancestry controls//794 malay ancestry cases//1,240 malay ancestry controls//977 asian indian ancestry cases//1,169 asian indian ancestry controls(p-value = 5E-7 ;OR = 1.24). 0.4 Transferability of type 2 diabetes implicated loci in multi-ethnic cohorts from Southeast Asia. genome-wide association analysis NONHSAT171804.1 lncRNA Type ii diabetes mellitus 0.33 CAATACCTAA(C > T)TCATGTTTCC chr15: 77485290 0.6579,0.3421 0.58188391946992864,0.41811608053007135 Region score:0.35; TSS score:0.46; Unmatched score:0.57; Average GERP:-1.4356999999999995 GeneName:AC090984.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000279033; TranscriptID:ENST00000623172; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.3177; mirSVR-E:-12.92 | GeneName:HMG20A; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000140382; TranscriptID:ENST00000381714; AnnoType:3PRIME_UTR; mirSVR-Score:-0.3177; mirSVR-E:-12.92 | NCRV0000002182 23793025 NONHSAT189932.1 rs16985493 A N/A 5,175 european ancestry clinic-based cases//13,972 european ancestry clinic-based controls EFO_0003821 N/A Associate Migraine - clinic-based rs16985493-A of NONHSAT189932.1 is significantly associated with the migraine - clinic-based by using GWAS analysis in 5,175 european ancestry clinic-based cases//13,972 european ancestry clinic-based controls(p-value = 4E-6 ;OR = 1.37). 0.4 Genome-wide meta-analysis identifies new susceptibility loci for migraine. genome-wide association analysis NONHSAT189932.1 lncRNA Migraine disorder 0.33 GGACAGTGCC(G > A,T)TCCCATATCC chr20: 61718507 0.9587,0.04133,. 0.94658670998980632,0.05340532619775739,0.00000796381243628 Region score:0.37; TSS score:0.59; Unmatched score:0.8; Average GERP:-0.8577156435643565 GeneName:AL162457.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000179253; TranscriptID:ENST00000317652; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CDH4; CADD-Score:2; Consquence:intron; GeneID:ENSG00000179242; TranscriptID:ENST00000614565; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002183 28448500 NONHSAT121628.2 rs2430307 T N/A 561 african american women//352 filipino ancestry women//725 indian ancestry women//19,366 european ancestry women//251 african american men//4,654 indian ancestry men//11,727 european ancestry men//959 european ancestry individuals; 1,437 african american women//5,184 european ancestry women//64 african american men//5,416 european ancestry men EFO_0001073 joint analysis main effects and physical activity interaction Associate Body mass index rs2430307-T of NONHSAT121628.2 is significantly associated with the body mass index by using GWAS analysis in 561 african american women//352 filipino ancestry women//725 indian ancestry women//19,366 european ancestry women//251 african american men//4,654 indian ancestry men//11,727 european ancestry men//959 european ancestry individuals; 1,437 african american women//5,184 european ancestry women//64 african american men//5,416 european ancestry men(p-value = 5E-6 ;OR = 0.0436). 0.4 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. genome-wide association analysis NONHSAT121628.2 lncRNA Obesity 0.451 ACAGGCACCA(T > C)GCGGACTGTG chr7: 76980627 0.3381,0.6619 0.21945877930682976,0.78054122069317023 Region score:0.27; TSS score:0.12; Unmatched score:0.5; Average GERP:0.24053700000000017 GeneName:AC114737.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000225703; TranscriptID:ENST00000434531; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC114737.3; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000283398; TranscriptID:ENST00000636708; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:DTX2P1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000186704; TranscriptID:ENST00000425797; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:DTX2P1-UPK3BP1-PMS2P11; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000265479; TranscriptID:ENST00000636308; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002183 28448500 NONHSAT121628.2 rs2430307 ? N/A 561 african american women//352 filipino ancestry women//725 indian ancestry women//19,366 european ancestry women//251 african american men//4,654 indian ancestry men//11,727 european ancestry men//959 european ancestry individuals; 1,437 african american women//5,184 european ancestry women//64 african american men//5,416 european ancestry men EFO_0001073 joint analysis main effects and physical activity interaction Associate Body mass index (joint analysis main effects and physical activity interaction) rs2430307-? of NONHSAT121628.2 is significantly associated with the body mass index (joint analysis main effects and physical activity interaction) by using GWAS analysis in 561 african american women//352 filipino ancestry women//725 indian ancestry women//19,366 european ancestry women//251 african american men//4,654 indian ancestry men//11,727 european ancestry men//959 european ancestry individuals; 1,437 african american women//5,184 european ancestry women//64 african american men//5,416 european ancestry men(p-value = 2E-6 ;OR = ?). 0.4 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. genome-wide association analysis NONHSAT121628.2 lncRNA Obesity 0.451 ACAGGCACCA(T > C)GCGGACTGTG chr7: 76980627 0.3381,0.6619 0.21945877930682976,0.78054122069317023 Region score:0.27; TSS score:0.12; Unmatched score:0.5; Average GERP:0.24053700000000017 GeneName:AC114737.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000225703; TranscriptID:ENST00000434531; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC114737.3; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000283398; TranscriptID:ENST00000636708; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:DTX2P1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000186704; TranscriptID:ENST00000425797; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:DTX2P1-UPK3BP1-PMS2P11; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000265479; TranscriptID:ENST00000636308; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002184 27723758 NONHSAT188003.1 rs80168506 ? N/A 1,635 european ancestry cases//4,852 european ancestry controls EFO_1001929 N/A Associate Selective iga deficiency rs80168506-? of NONHSAT188003.1 is significantly associated with the selective iga deficiency by using GWAS analysis in 1,635 european ancestry cases//4,852 european ancestry controls(p-value = 3E-7 ;OR = 1.5625). 0.4 Common variants at PVT1, ATG13-AMBRA1, AHI1 and CLEC16A are associated with selective IgA deficiency. genome-wide association analysis NONHSAT188003.1 lncRNA Selective iga deficiency disease 0.33 ATAGCCTTGA(A > G)TATTTCTTAA chr2: 213196729 0.969,0.03095 0.94973241590214067,0.05026758409785932 Region score:0.39; TSS score:0.18; Unmatched score:0.03; Average GERP:-0.17461485148514855 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002185 26192919 NONHSAT186550.1 rs35320439 G N/A 5,956 european ancestry cases//14,927 european ancestry controls; 14,594 european ancestry cases//26,715 european ancestry controls//151 iranian ancestry cases//342 iranian ancestry controls//184 indian ancestry cases//990 indian ancestry controls//1,690 east asian ancestry cases//3,719 east asian ancestry controls EFO_0000384 N/A Associate Crohn's disease rs35320439-G of NONHSAT186550.1 is significantly associated with the crohn's disease by using GWAS analysis in 5,956 european ancestry cases//14,927 european ancestry controls; 14,594 european ancestry cases//26,715 european ancestry controls//151 iranian ancestry cases//342 iranian ancestry controls//184 indian ancestry cases//990 indian ancestry controls//1,690 east asian ancestry cases//3,719 east asian ancestry controls(p-value = 1E-9 ;OR = 1.0876893). 0.4 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. genome-wide association analysis NONHSAT186550.1 lncRNA Crohn's disease 0.33 ATGCTGAGCT(T > C)GCCGAGTGCA chr2: 241797926 N/A 0.54853943679918450,0.45146056320081549 Region score:0.41; TSS score:0.29; Unmatched score:0.42; Average GERP:-0.21844455445544558 GeneName:AC131097.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000215023; TranscriptID:ENST00000437438; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GAL3ST2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000154252; TranscriptID:ENST00000192314; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002186 21833088 NONHSAT203488.1 rs2546890 A N/A 9,772 european ancestry cases//16,849 european ancestry controls; 4,218 european ancestry cases//7,296 european ancestry controls EFO_0003885 N/A Associate Multiple sclerosis rs2546890-A of NONHSAT203488.1 is significantly associated with the multiple sclerosis by using GWAS analysis in 9,772 european ancestry cases//16,849 european ancestry controls; 4,218 european ancestry cases//7,296 european ancestry controls(p-value = 1E-11 ;OR = 1.11). 0.4 Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. genome-wide association analysis NONHSAT203488.1 lncRNA Multiple sclerosis 0.451 TTGTCTTCCC(A > G)CAGTGAAATC chr5: 159332892 0.4403,0.5597 0.46180555555555555,0.53819444444444444 Region score:0.48; TSS score:0.6; Unmatched score:0.79; Average GERP:-0.8423178217821782 GeneName:AC008691.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000249738; TranscriptID:ENST00000515337; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.5686; mirSVR-E:-14.97 | GeneName:IL12B; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000113302; TranscriptID:ENST00000231228; AnnoType:UPSTREAM; mirSVR-Score:-0.5686; mirSVR-E:-14.97 | NCRV0000002186 22190364 NONHSAT203488.1 rs2546890 A N/A 5,545 european ancestry cases//12,153 european ancestry controls EFO_0003885 N/A Associate Multiple sclerosis rs2546890-A of NONHSAT203488.1 is significantly associated with the multiple sclerosis by using GWAS analysis in 5,545 european ancestry cases//12,153 european ancestry controls(p-value = 8E-8 ;OR = 1.16). 0.4 Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci. genome-wide association analysis NONHSAT203488.1 lncRNA Multiple sclerosis 0.451 TTGTCTTCCC(A > G)CAGTGAAATC chr5: 159332892 0.4403,0.5597 0.46180555555555555,0.53819444444444444 Region score:0.48; TSS score:0.6; Unmatched score:0.79; Average GERP:-0.8423178217821782 GeneName:AC008691.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000249738; TranscriptID:ENST00000515337; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.5686; mirSVR-E:-14.97 | GeneName:IL12B; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000113302; TranscriptID:ENST00000231228; AnnoType:UPSTREAM; mirSVR-Score:-0.5686; mirSVR-E:-14.97 | NCRV0000002187 20686608 NONHSAT210149.1 rs9502893 G N/A 991 japanese ancestry cases//5,209 japanese ancestry controls EFO_0002618 N/A Associate Pancreatic cancer rs9502893-G of NONHSAT210149.1 is significantly associated with the pancreatic cancer by using GWAS analysis in 991 japanese ancestry cases//5,209 japanese ancestry controls(p-value = 3E-7 ;OR = 1.29). 0.4 Genome-wide association study of pancreatic cancer in Japanese population. genome-wide association analysis NONHSAT210149.1 lncRNA Pancreatic cancer 0.33 TGGTAATCAT(C > G,T)TTACAGCGTA chr6: 1339954 0.5088,.,0.4912 0.48802242609582059,0.00015927624872579,0.51181829765545361 Region score:0.2; TSS score:0.15; Unmatched score:0.03; Average GERP:-0.6406900990099013 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002188 21345130 mir-146a rs2910164 T N/a 212 histologically confirmed patients with urinary bladder cancer and 250 healthy controls EFO_0000292 N/A No significance for risk Bladder cancer rs2910164-T of mir-146a and its dysfunction is not significantly associated with bladder cancer by using case-control analysis in 212 histologically confirmed patients with urinary bladder cancer and 250 healthy controls. -0.4 Investigative role of pre-microRNAs in bladder cancer patients: a case-control study in North India. case-control analysis hsa-mir-146a miRNA Bladder cancer 0 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 N/A 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002188 24413317 miR-146a rs2910164 C N/A 16399 cases and 21779 controls from seven published studies in eight common cancers EFO_0000292 N/A increasing risk bladder carcinoma rs2910164-C of hsa-mir-146a and its dysfunction is significantly associated with the increasing risk of Bladder carcinoma by using meta-analysis in 16399 cases and 21779 controls from seven published studies in eight common cancers 0.4 MicroRNA sequence polymorphisms and the risk of different types of cancer. meta-analysis hsa-mir-146a miRNA Bladder carcinoma 0 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 0 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002189 27863252 NONHSAT206588.1 rs55713716 A N/A 172,275 european ancestry individuals EFO_0004842 N/A Associate Eosinophil counts rs55713716-A of NONHSAT206588.1 is significantly associated with the eosinophil counts by using GWAS analysis in 172,275 european ancestry individuals(p-value = 1E-21 ;OR = 0.04793884). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT206588.1 lncRNA Eosinophil count 0.33 TGTGGTGGAC(G > A,T)TACACCATGG chr6: 376329 0.4297,0.5703,. 0.38993214831804281,0.60999617737003058,0.00007167431192660 Region score:0.37; TSS score:0.26; Unmatched score:0.2; Average GERP:-0.9792594059405939 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002190 28555645 paRNA rs16260 ? Dominant Prostate cancer cells EFO_0001663 N/A Increasing risk Prostate cancer rs16260-? of paRNA and its dysfunction is significantly associated with the increasing risk of prostate cancer by using analysis of sequence variation in prostate cancer cells. By using the disease cell lines or tissues, the interference and mutation of paRNA has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. Moreover, the ncRNA variation-disease association was validated by complex experiments. 1.4 A promoter-proximal transcript targeted by genetic polymorphism controls E-cadherin silencing in human cancers. analysis of sequence variation; Function; Mechanism paRNA lncRNA Prostate cancer 0.753 TAGAGGGTCA(C > A)CGCGTCTATG chr16: 68737131 0.7644,0.2356 0.75465883027522935,0.24534116972477064 Region score:0.76; TSS score:0.93; Unmatched score:0.95; Average GERP:-1.8157594059405961 GeneName:CDH1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000039068; TranscriptID:ENST00000261769; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000087318; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000540748; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002191 20889312 NONHSAT118775.2 rs6952808 ? N/A 651 european ancestry bipolar cases//1,171 european ancestry schizophrenia cases//2,412 european ancestry controls EFO_0000677 N/A Associate Bipolar disorder and schizophrenia rs6952808-? of NONHSAT118775.2 is significantly associated with the bipolar disorder and schizophrenia by using GWAS analysis in 651 european ancestry bipolar cases//1,171 european ancestry schizophrenia cases//2,412 european ancestry controls(p-value = 2E-6 ;OR = 1.2541). 0.4 A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder. genome-wide association analysis NONHSAT118775.2 lncRNA Mental or behavioural disorder 0.33 GCTGCTGTTT(G > C)CTCTCTGCCA chr7: 1846899 0.5925,0.4075 0.62120922528032619,0.37879077471967380 Region score:0.3; TSS score:0.37; Unmatched score:0.56; Average GERP:0.7574673267326734 GeneName:AC104129.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000176349; TranscriptID:ENST00000480694; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0017; mirSVR-E:-14.92 | GeneName:MAD1L1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000002822; TranscriptID:ENST00000406869; AnnoType:INTRONIC; mirSVR-Score:-0.0017; mirSVR-E:-14.92 | GeneName:MIR4655; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000265089; TranscriptID:ENST00000580817; AnnoType:UPSTREAM; mirSVR-Score:-0.0017; mirSVR-E:-14.92 | NCRV0000002192 20520619 mir-499 rs3746444 C N/A 230 GBC cases and 230 controls EFO_1001956 N/A no significance for risk gallbladder carcinoma rs3746444-C of hsa-mir-499a and its dysfunction is not significantly associated with Gallbladder carcinoma by using case-control analysis in 230 GBC cases and 230 controls -0.4 Common genetic variants in pre-microRNAs and risk of gallbladder cancer in North Indian population. case-control analysis hsa-mir-499a miRNA Gallbladder carcinoma -0.33 CCACGTGAAC(A > G)TCACAGCAAG chr20: 34990448 0.8165,0.1835 0.81708715596330275,0.18291284403669724 Region score:0.79; TSS score:0.85; Unmatched score:0.95; Average GERP:3.757564356435645 GeneName:MIR499A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207635; TranscriptID:ENST00000384903; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR499B; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283441; TranscriptID:ENST00000636498; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYH7B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000078814; TranscriptID:ENST00000262873; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002193 27718165 MIR124A rs531564 C N/a 207 ulcerative colitis patients and 298 matched healthy controls EFO_0000729 N/A No significance for risk Ulcerative colitis rs531564-C of MIR124A and its dysfunction is not significantly associated with ulcerative colitis by using case-control analysis in 207 ulcerative colitis patients and 298 matched healthy controls. -0.4 Polymorphisms in MIR122, MIR196A2, and MIR124A Genes are Associated with Clinical Phenotypes in Inflammatory Bowel Diseases. case-control analysis hsa-mir-124-1 miRNA Ulcerative colitis -0.33 CCCTGAGTCT(G > C)TTTGCATCTC chr8: 9903189 0.87,0.13 0.86338079765545361,0.13661920234454638 Region score:0.48; TSS score:0.58; Unmatched score:0.92; Average GERP:0.641257425742574 GeneName:LINC00599; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253230; TranscriptID:ENST00000517675; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR124-1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000284321; TranscriptID:ENST00000385275; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000847381; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002194 27863252 NONHSAT151331.1 rs157198 C N/A 164,454 european ancestry individuals EFO_0004584 N/A Associate Mean platelet volume rs157198-C of NONHSAT151331.1 is significantly associated with the mean platelet volume by using GWAS analysis in 164,454 european ancestry individuals(p-value = 5E-19 ;OR = 0.06131747). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT151331.1 lncRNA Mean platelet volume 0.33 TGCATTAGCA(T > A,C)CCTTGCTTAG chr1: 28877395 0.8646,.,0.1354 0.88973305300713557,0.00000796381243628,0.11025898318042813 Region score:0.5; TSS score:0.47; Unmatched score:0.67; Average GERP:-0.7030722772277224 GeneName:AL009181.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000233427; TranscriptID:ENST00000418471; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000250918; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000352122; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF00019; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000199756; TranscriptID:ENST00000362886; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002195 27863252 NONHSAT217919.1 rs1864585 G N/A 171,748 european ancestry individuals EFO_0007993 N/A Associate Lymphocyte percentage of white cells rs1864585-G of NONHSAT217919.1 is significantly associated with the lymphocyte percentage of white cells by using GWAS analysis in 171,748 european ancestry individuals(p-value = 5E-13 ;OR = 0.02946666). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT217919.1 lncRNA Lymphocyte percentage of leukocytes 0.33 TGCCGGGCAG(A > G)ACCACCCTGT chr8: 10875395 0.1855,0.8145 0.22642711518858307,0.77357288481141692 Region score:0.19; TSS score:0.31; Unmatched score:0.18; Average GERP:-1.5879091089108908 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002196 28165464 NONHSAT184469.1 rs888096 A N/A 4,478 european ancestry cases and 13,213 european ancestry controls.; 1,722 european ancestry cases and 4,385 european ancestry controls. EFO_0000095 N/A Associate Chronic lymphocytic leukemia rs888096 -A of NONHSAT184469.1 is significantly associated with the chronic lymphocytic leukemia by using GWAS analysis in 4,478 european ancestry cases and 13,213 european ancestry controls.; 1,722 european ancestry cases and 4,385 european ancestry controls.(p-value = 5E-8 ;OR = 1.15). 0.4 Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia. genome-wide association analysis NONHSAT184469.1 lncRNA Chronic lymphocytic leukemia 0.33 CATCCCTCAA(G > A)TAGTGAAATT chr2: 37376658 0.3241,0.6759 0.42273509174311926,0.57726490825688073 Region score:0.25; TSS score:0.5; Unmatched score:0.38; Average GERP:0.11719227722772296 GeneName:QPCT; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000115828; TranscriptID:ENST00000338415; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002197 28441456 NONHSAT176706.1 rs139142374 T N/A 2,187 european ancestry individuals EFO_0007841 N/A Associate Facial morphology (factor 23) rs139142374-T of NONHSAT176706.1 is significantly associated with the facial morphology (factor 23) by using GWAS analysis in 2,187 european ancestry individuals(p-value = 5E-6 ;OR = 0.7783). 0.4 Genome-wide association study of facial morphology reveals novel associations with FREM1 and PARK2. genome-wide association analysis NONHSAT176706.1 lncRNA Facial morphology measurement 0.33 CCCAGCTACT(C > G,T)GGGAGGCTGA chr17: 1927062 0.9974,.,0.002596 0.99397139398572884,.,0.00602860601427115 Region score:0.35; TSS score:0.21; Unmatched score:0.03; Average GERP:-0.31902772277227726 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002198 21909115 NONHSAT189066.1 rs6015450 G N/A 69,395 european ancestry individuals; up to 133,361 european ancestry individuals EFO_0000537 N/A Associate Hypertension rs6015450-G of NONHSAT189066.1 is significantly associated with the hypertension by using GWAS analysis in 69,395 european ancestry individuals; up to 133,361 european ancestry individuals(p-value = 4E-14 ;OR = 0.11). 0.4 Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. genome-wide association analysis NONHSAT189066.1 lncRNA Hypertension 0.33 GGAATGCCTT(A > G)TTATTGCCTC chr20: 59176062 0.9022,0.09784 0.86678930937818552,0.13321069062181447 Region score:0.39; TSS score:0.18; Unmatched score:0.12; Average GERP:-0.6414472277227723 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000656350; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ZNF831; CADD-Score:2; Consquence:intron; GeneID:ENSG00000124203; TranscriptID:ENST00000637017; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002199 28334935 NONHSAT210353.1 rs113507773 G N/A 12,580 hispanic/latino individuals EFO_0006332 N/A Associate Iron status biomarkers (iron levels) rs113507773-G of NONHSAT210353.1 is significantly associated with the iron status biomarkers (iron levels) by using GWAS analysis in 12,580 hispanic/latino individuals(p-value = 4E-8 ;OR = 0.199). 0.4 Genome-wide association study of iron traits and relation to diabetes in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL): potential genomic intersection of iron and glucose regulation? genome-wide association analysis NONHSAT210353.1 lncRNA Serum iron measurement 0.33 AGGCCGAGGC(G > A)GGCGGATCAT chr6: 26255511 0.9177,0.08227 0.90538990825688073,0.09461009174311926 Region score:0.38; TSS score:0.28; Unmatched score:0.24; Average GERP:-0.5777237623762379 GeneName:HIST1H2BH; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000275713; TranscriptID:ENST00000619466; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HIST1H3F; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277775; TranscriptID:ENST00000618052; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002200 27863252 NONHSAT108210.2 rs1799945 G N/A 172,851 european ancestry individuals EFO_0004527 N/A Associate Mean corpuscular hemoglobin concentration rs1799945-G of NONHSAT108210.2 is significantly associated with the mean corpuscular hemoglobin concentration by using GWAS analysis in 172,851 european ancestry individuals(p-value = 1E-135 ;OR = 0.1196674). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT108210.2 lncRNA Mean corpuscular hemoglobin 0.33 GTTCTATGAT(C > G)ATGAGAGTCG chr6: 26090951 0.9269,0.07308 0.89884365443425076,0.10115634556574923 Region score:0.3; TSS score:0.25; Unmatched score:0.49; Average GERP:0.6539455445544557 GeneName:HFE; CADD-Score:7; Consquence:missense; GeneID:ENSG00000010704; TranscriptID:ENST00000357618; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002201 22504420 NONHSAT176969.1 rs4792909 T N/A up to 32,961 european and east asian ancestry individuals; up to 50,933 european and east asian ancestry individuals EFO_0003923 N/A Associate Bone mineral density rs4792909-T of NONHSAT176969.1 is significantly associated with the bone mineral density by using GWAS analysis in up to 32,961 european and east asian ancestry individuals; up to 50,933 european and east asian ancestry individuals(p-value = 2E-11 ;OR = 0.04). 0.4 Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. genome-wide association analysis NONHSAT176969.1 lncRNA Bone density 0.33 GACCAGTGTG(G > T)CTCTCCTTCG chr17: 43721456 0.5086,0.4914 0.50406154434250764,0.49593845565749235 Region score:0.29; TSS score:0.42; Unmatched score:0.4; Average GERP:-0.01210990099009904 GeneName:AC055813.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000267253; TranscriptID:ENST00000587110; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000094641; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002202 27863252 NONHSAT174234.1 rs142686179 A N/A 172,332 european ancestry individuals EFO_0004527 N/A Associate Mean corpuscular hemoglobin rs142686179-A of NONHSAT174234.1 is significantly associated with the mean corpuscular hemoglobin by using GWAS analysis in 172,332 european ancestry individuals(p-value = 1E-10 ;OR = 0.6205361). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT174234.1 lncRNA Mean corpuscular hemoglobin 0.33 GCTGCCTGGT(G > A,C,T)GGGGGGTGGG chr16: 746976 0.9916,0.008387,.,. 0.99142297400611620,0.00852924311926605,0.00003185524974515,0.00001592762487257 Region score:0.27; TSS score:0.27; Unmatched score:0.12; Average GERP:0.10921782178217801 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002203 29109912 NONHSAT184018.1 rs72776813 A N/A 377 east asian ancestry individuals EFO_0003949 N/A Associate Iris heterochromicity rs72776813-A of NONHSAT184018.1 is significantly associated with the iris heterochromicity by using GWAS analysis in 377 east asian ancestry individuals(p-value = 4E-7 ;OR = 0.481). 0.4 Genome-wide association study of pigmentary traits (skin and iris color) in individuals of East Asian ancestry. genome-wide association analysis NONHSAT184018.1 lncRNA Eye color 0.33 AATCTGAGAC(G > A)AAAGGCGATT chr2: 2788303 0.8994,0.1006 0.94477892456676860,0.05522107543323139 Region score:0.48; TSS score:0.36; Unmatched score:0.32; Average GERP:-1.7593237623762372 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000595170; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002204 24413317 miR-27a rs895819 C N/a 16399 cases and 21779 controls from seven published studies in eight common cancers EFO_0000292 N/A Increasing risk Bladder cancer rs895819-C of miR-27a and its dysfunction is significantly associated with the increasing risk of bladder cancer by using meta-analysis in 16399 cases and 21779 controls from seven published studies in eight common cancers. 0.4 MicroRNA sequence polymorphisms and the risk of different types of cancer. meta-analysis hsa-mir-27a miRNA Bladder cancer 0.33 CACGACTTGG(T > C)GTGGACCCTG chr19: 13836478 0.6362,0.3638 0.63091711264016309,0.36908288735983690 Region score:0.57; TSS score:0.41; Unmatched score:0.75; Average GERP:2.158386138613861 GeneName:AC020916.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000267519; TranscriptID:ENST00000587762; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR23A; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207980; TranscriptID:ENST00000385245; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR24-2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284387; TranscriptID:ENST00000386972; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR27A; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207808; TranscriptID:ENST00000385073; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000107447; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ZSWIM4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000132003; TranscriptID:ENST00000254323; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002205 27082954 NONHSAT208428.1 rs9356334 ? N/A 104 european ancestry cases//1,519 european ancestry controls//34 african american cases//520 african american controls EFO_0004265 traffic-related air pollution interaction Associate Peripheral arterial disease (traffic-related air pollution interaction) rs9356334-? of NONHSAT208428.1 is significantly associated with the peripheral arterial disease (traffic-related air pollution interaction) by using GWAS analysis in 104 european ancestry cases//1,519 european ancestry controls//34 african american cases//520 african american controls(p-value = 7E-7 ;OR = 87.33). 0.4 Genetic Variants in the Bone Morphogenic Protein Gene Family Modify the Association between Residential Exposure to Traffic and Peripheral Arterial Disease. genome-wide association analysis NONHSAT208428.1 lncRNA Peripheral arterial disease 0.33 ATTTTATTCC(T > G)TCAAGAAATT chr6: 165000406 0.9541,0.04593 0.97013570336391437,0.02986429663608562 Region score:0.27; TSS score:0.15; Unmatched score:0.06; Average GERP:-0.7327336633663367 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002206 23459097 PCGEM1 rs16834898 C N/a 656 cases and 702 controls EFO_0001663 N/A Increasing risk Prostate cancer rs16834898-C of PCGEM1 and its dysfunction is significantly associated with the increasing risk of prostate cancer by using case-control analysis in 656 cases and 702 controls. 0.4 Association between lncrna PCGEM1 polymorphisms and prostate cancer risk. case-control analysis PCGEM1 lncRNA Prostate cancer 0.33 AAGAAATGAG(A > C)GTCTTATAAA chr2: 192772562 0.4539,0.5461 0.47277172528032619,0.52722827471967380 Region score:0.27; TSS score:0.15; Unmatched score:0.12; Average GERP:-0.6412653465346537 GeneName:PCGEM1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000227418; TranscriptID:ENST00000454040; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01981; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000278406; TranscriptID:ENST00000613431; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RPS17P8; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000226242; TranscriptID:ENST00000434525; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002207 27863252 NONHSAT219817.1 rs200760632 G N/A 172,378 european ancestry individuals EFO_0007991 N/A Associate Eosinophil percentage of white cells rs200760632-G of NONHSAT219817.1 is significantly associated with the eosinophil percentage of white cells by using GWAS analysis in 172,378 european ancestry individuals(p-value = 2E-11 ;OR = 0.03107506). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT219817.1 lncRNA Eosinophil percentage of leukocytes 0.33 CACTAGGAAA(GA > G)AAAAAAAAAA chr9: 91193720 0.6558,0.3442 0.75477828746177370,0.24522171253822629 N/A GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000886520; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002208 27758888 MIR2052HG rs3802201 ? Dominant Only north american patients were offered participation in collection of blood specimens and 5221 of 6827 (76.5%) of the north american patients contributed blood EFO_0000305 anastrozole; exemestane Better prognosis Breast cancer rs3802201-? of MIR2052HG and its dysfunction is significantly associated with the better prognosis of Breast Cancer by using genome-wide association analysis in Only North American patients were offered participation in collection of blood specimens and 5221 of 6827 (76.5%) of the North American patients contributed blood. By using the disease cell lines or tissues, the interference and mutation of MIR2052HG has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. Moreover, the ncRNA variation-disease association was validated by complex experiments. 1.4 Genetic Polymorphisms in the Long Noncoding RNA MIR2052HG Offer a Pharmacogenomic Basis for the Response of Breast Cancer Patients to Aromatase Inhibitor Therapy. genome-wide association analysis; Function; Mechanism hsa-mir-2052 miRNA Breast cancer 0.753 TGGGGGTCTA(G > C)TGGCAGCTGT chr8: 74603964 0.2943,0.7057 0.26021757135575942,0.73978242864424057 Region score:0.46; TSS score:0.48; Unmatched score:0.61; Average GERP:2.2484158415841593 GeneName:AC115837.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253341; TranscriptID:ENST00000517662; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR2052HG; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000254349; TranscriptID:ENST00000523118; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002209 26053186 NONHSAT068060.2 rs79546472 ? N/A 362 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//438 european ancestry current smoker individuals//449 latino current smoker individuals//704 japanese ancestry current smoker individuals EFO_0001071 in smokers Associate 3-hydroxypropylmercapturic acid levels in smokers rs79546472-? of NONHSAT068060.2 is significantly associated with the 3-hydroxypropylmercapturic acid levels in smokers by using GWAS analysis in 362 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//438 european ancestry current smoker individuals//449 latino current smoker individuals//704 japanese ancestry current smoker individuals(p-value = 1E-6 ;OR = 0.375). 0.4 Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer. genome-wide association analysis NONHSAT068060.2 lncRNA Lung cancer 0.33 CTCCTCGCTC(G > A,C)TCTCTGTCCT chr19: 55662011 0.9687,.,0.03135 0.97064538735983690,0.00015131243628950,0.02920330020387359 Region score:0.28; TSS score:0.15; Unmatched score:0.17; Average GERP:-2.0624356435643567 GeneName:AC008735.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000267523; TranscriptID:ENST00000589456; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:U2AF2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000063244; TranscriptID:ENST00000308924; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002210 25390645 NONHSAT168796.1 rs7141336 C N/A 324 african american cases//273 african american controls//757 european ancestry cases//940 european ancestry controls EFO_0006788 N/A Associate Anxiety disorder rs7141336-C of NONHSAT168796.1 is significantly associated with the anxiety disorder by using GWAS analysis in 324 african american cases//273 african american controls//757 european ancestry cases//940 european ancestry controls(p-value = 6E-6 ;OR = 0.19). 0.4 Genome-wide and gene-based association studies of anxiety disorders in European and African American samples. genome-wide association analysis NONHSAT168796.1 lncRNA Anxiety disorder 0.33 CTCTGGGCTC(A > G)TTTCTGCCTC chr14: 90819884 0.7462,0.2538 0.68112895005096839,0.31887104994903160 Region score:0.49; TSS score:0.45; Unmatched score:0.47; Average GERP:-1.6552584158415844 GeneName:LINC02321; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000258884; TranscriptID:ENST00000555975; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TTC7B; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000165914; TranscriptID:ENST00000328459; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002211 23251661 NONHSAT159135.1 rs28362944 G N/A 815 hispanic children from 263 families EFO_0004466 N/A Associate Obesity-related traits rs28362944-G of NONHSAT159135.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 9E-6 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. genome-wide association analysis NONHSAT159135.1 lncRNA Fasting blood insulin measurement 0.33 GCTCCGCAGG(T > C)CCGCTGACGT chr11: 57598250 0.9854,0.01458 0.96972954892966360,0.03027045107033639 Region score:0.68; TSS score:0.52; Unmatched score:0.98; Average GERP:1.1359445544554454 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000039908; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SERPING1; CADD-Score:5; Consquence:splice,5_prime_UTR; GeneID:ENSG00000149131; TranscriptID:ENST00000278407; AnnoType:SPLICE_SITE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002212 27863252 NONHSAT144156.2 rs6540234 C N/A 169,545 european ancestry individuals EFO_0007997 N/A Associate Granulocyte percentage of myeloid white cells rs6540234-C of NONHSAT144156.2 is significantly associated with the granulocyte percentage of myeloid white cells by using GWAS analysis in 169,545 european ancestry individuals(p-value = 1E-42 ;OR = 0.05408768). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT144156.2 lncRNA Granulocyte percentage of myeloid white cells 0.33 TGTGAAACAC(T > C)ATGCCCGGTA chr16: 85949450 0.1867,0.8133 0.21970565749235474,0.78029434250764525 Region score:0.29; TSS score:0.32; Unmatched score:0.17; Average GERP:0.035009900990098965 GeneName:AC092723.5; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000285163; TranscriptID:ENST00000646986; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002213 22041458 NONHSAT218823.1 rs17766217 A N/A 1,151 european ancestry cases//288 african american cases EFO_0006320 N/A Associate Response to anti-depressant treatment in major depressive disorder rs17766217-A of NONHSAT218823.1 is significantly associated with the response to anti-depressant treatment in major depressive disorder by using GWAS analysis in 1,151 european ancestry cases//288 african american cases(p-value = 3E-7 ;OR = ?). 0.4 Pharmacogenomic study of side-effects for antidepressant treatment options in STAR*D. genome-wide association analysis NONHSAT218823.1 lncRNA Antidepressant-induced side effect 0.33 CATTGGTAGC(T > A,C)GGTCTTTTTG chr8: 127492252 0.638,.,0.362 0.60982893730886850,0.00001592762487257,0.39015513506625891 Region score:0.36; TSS score:0.28; Unmatched score:0.07; Average GERP:-0.24005281188118802 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002214 27863252 NONHSAT191958.1 rs34891900 T N/A 170,384 european ancestry individuals EFO_0009390 N/A Associate Sum neutrophil eosinophil counts rs34891900-T of NONHSAT191958.1 is significantly associated with the sum neutrophil eosinophil counts by using GWAS analysis in 170,384 european ancestry individuals(p-value = 3E-9 ;OR = 0.02130261). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT191958.1 lncRNA Sum of neutrophil and eosinophil counts 0.33 CGCCTTAGTC(C > G,T)CAGCTACTCG chr22: 17680392 0.3924,.,0.6076 0.47361588939857288,0.00035040774719673,0.52603370285423037 Region score:0.15; TSS score:0.1; Unmatched score:0.04; Average GERP:0 GeneName:BCL2L13; CADD-Score:2; Consquence:intron; GeneID:ENSG00000099968; TranscriptID:ENST00000618481; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002215 21793975 miR-135a-2 hsa-mir-135a-2 Deletion - Dominant 48 medulloblastomas EFO_0002939 N/A Increasing risk Medulloblastomas Deletion of miR-135a-2 and its dysfunction is significantly associated with the increasing risk of medulloblastomas by using analysis of sequence variation in 48 medulloblastomas. 0.4 Genetic alterations in microRNAs in medulloblastomas. analysis of sequence variation; Function hsa-mir-135a-2 miRNA Medulloblastoma 0.33 N/A N/A N/A N/A N/A N/A NCRV0000002216 26634245 NONHSAT197527.1 rs150425940 A N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio rs150425940-A of NONHSAT197527.1 is significantly associated with the post bronchodilator fev1/fvc ratio by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 2E-6 ;OR = 0.078). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT197527.1 lncRNA Pulmonary function measurement 0.33 ATCTAATCCT(G > A)ATTATGTGGT chr3: 129083346 0.9962,0.003794 0.99631275484199796,0.00368724515800203 Region score:0.41; TSS score:0.21; Unmatched score:0.03; Average GERP:-0.6186287128712866 GeneName:ISY1-RAB43; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000261796; TranscriptID:ENST00000418265; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RAB43; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000172780; TranscriptID:ENST00000315150; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002217 27863252 NONHSAT195296.1 rs11428167 AT N/A 172,952 european ancestry individuals EFO_0004305 N/A Associate Red blood cell count rs11428167-AT of NONHSAT195296.1 is significantly associated with the red blood cell count by using GWAS analysis in 172,952 european ancestry individuals(p-value = 4E-20 ;OR = 0.04815017). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT195296.1 lncRNA Erythrocyte count 0.33 AGTTAGCTCT(A > AT)TTTTTTCCTA chr3: 196184704 0.7823,0.2177 0.87995349133537206,0.12004650866462793 N/A GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002218 27863252 NONHSAT108210.2 rs1799945 G N/A 173,039 european ancestry individuals EFO_0004348 N/A Associate Hematocrit rs1799945-G of NONHSAT108210.2 is significantly associated with the hematocrit by using GWAS analysis in 173,039 european ancestry individuals(p-value = 1E-41 ;OR = 0.06645191). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT108210.2 lncRNA Hematocrit 0.33 GTTCTATGAT(C > G)ATGAGAGTCG chr6: 26090951 0.9269,0.07308 0.89884365443425076,0.10115634556574923 Region score:0.3; TSS score:0.25; Unmatched score:0.49; Average GERP:0.6539455445544557 GeneName:HFE; CADD-Score:7; Consquence:missense; GeneID:ENSG00000010704; TranscriptID:ENST00000357618; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002219 29803923 HULC rs2038540 G N/A 521 patients and 817 sex- and age (卤5) frequency-matched controls in the risk study; Among them, 351 hepatocellular cancer patients were involved in the prognosis study. EFO_0000182 Ever smoking increasing risk hepatocellular carcinoma rs2038540-G of HULC and its dysfunction is significantly associated with the increasing risk of Hepatocellular carcinoma by using case-control analysis in 521 patients and 817 sex- and age (卤5) frequency-matched controls in the risk study; Among them, 351 hepatocellular cancer patients were involved in the prognosis study. 0.4 The association of lncRNA-HULC polymorphisms with hepatocellular cancer risk and prognosis. case-control analysis HULC lncRNA Hepatocellular carcinoma 0.33 TTATAGCAGC(C > G)TAAGCGGACT chr6: 8652438 0.8305,0.1695 0.81241239806320081,0.18758760193679918 Region score:0.15; TSS score:0.4; Unmatched score:0.72; Average GERP:-0.4851373267326733 GeneName:AL355499.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000285216; TranscriptID:ENST00000644718; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AL591485.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000285219; TranscriptID:ENST00000642357; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000192893; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF02101; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000276019; TranscriptID:ENST00000612720; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002220 27527254 NONHSAT069465.2 rs7255 T N/A 4,112 european ancestry cases//17,159 european ancestry controls EFO_0000478 N/A Associate Esophageal adenocarcinoma rs7255-T of NONHSAT069465.2 is significantly associated with the esophageal adenocarcinoma by using GWAS analysis in 4,112 european ancestry cases//17,159 european ancestry controls(p-value = 4E-8 ;OR = 1.1654). 0.4 Genome-wide association studies in oesophageal adenocarcinoma and Barrett's oesophagus: a large-scale meta-analysis. genome-wide association analysis NONHSAT069465.2 lncRNA Esophageal adenocancer 0.33 AACCTATGTG(T > A,C)ATATATATTC chr2: 20679060 0.5861,.,0.4139 0.52450465086646279,0.00007963812436289,0.47541571100917431 Region score:0.37; TSS score:0.44; Unmatched score:0.48; Average GERP:1.658088118811882 GeneName:AC012065.4; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000270100; TranscriptID:ENST00000602445; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GDF7; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000143869; TranscriptID:ENST00000272224; AnnoType:3PRIME_UTR; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LDAH; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000118961; TranscriptID:ENST00000435420; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002221 26053186 NONHSAT208328.1 rs78995442 ? N/A 362 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//438 european ancestry current smoker individuals//449 latino current smoker individuals//704 japanese ancestry current smoker individuals EFO_0001071 in smokers Associate 3-hydroxypropylmercapturic acid levels in smokers rs78995442-? of NONHSAT208328.1 is significantly associated with the 3-hydroxypropylmercapturic acid levels in smokers by using GWAS analysis in 362 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//438 european ancestry current smoker individuals//449 latino current smoker individuals//704 japanese ancestry current smoker individuals(p-value = 5E-6 ;OR = 0.6532). 0.4 Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer. genome-wide association analysis NONHSAT208328.1 lncRNA Lung cancer 0.33 TTAAATCTTA(C > T)AAGTGGAAAG chr6: 158910228 0.9245,0.07548 0.96033225025484199,0.03966774974515800 Region score:0.52; TSS score:0.73; Unmatched score:0.84; Average GERP:0.40197722772277233 GeneName:C6orf99; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000203711; TranscriptID:ENST00000643288; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002222 28199695 NONHSAT175317.1 rs111937789 G N/A 84,724 european ancestry individuals EFO_0008378 N/A Associate Mosquito bite size rs111937789-G of NONHSAT175317.1 is significantly associated with the mosquito bite size by using GWAS analysis in 84,724 european ancestry individuals(p-value = 2E-6 ;OR = 1.4852). 0.4 GWAS of self-reported mosquito bite size, itch intensity and attractiveness to mosquitoes implicates immune-related predisposition loci. genome-wide association analysis NONHSAT175317.1 lncRNA Mosquito bite reaction size measurement 0.33 TATGTTCTGC(G > A)TCAGGTCAGA chr17: 48704487 0.9918,0.008187 0.98827726809378185,0.01172273190621814 Region score:0.53; TSS score:0.5; Unmatched score:0.59; Average GERP:0.29563069306930684 GeneName:LINC02086; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000244649; TranscriptID:ENST00000492522; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000557736; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002223 22778062 SNORA19 rs7908143 G N/A N/A function N/A not significant changes in the structure function rs7908143-G of SNORA19 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in nan -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORA19 snoRNA function -0.049 ATAGTTATAC(T > C,G)GCTAATTAGC chr10: 119060055 0.9968,0.003195,. 0.99617737003058103,0.00382262996941896,. Region score:0.47; TSS score:0.31; Unmatched score:0.57; Average GERP:3.461637623762375 GeneName:EIF3A; CADD-Score:2; Consquence:intron; GeneID:ENSG00000107581; TranscriptID:ENST00000369144; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF00413; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000222588; TranscriptID:ENST00000410656; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORA19; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207468; TranscriptID:ENST00000384737; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002224 26198764 NONHSAT183033.1 rs74338693 G N/A 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls EFO_0000692 N/A Associate Schizophrenia rs74338693-G of NONHSAT183033.1 is significantly associated with the schizophrenia by using GWAS analysis in 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls(p-value = 7E-6 ;OR = 1.0638298). 0.4 Genome-wide association study of schizophrenia in Ashkenazi Jews. genome-wide association analysis NONHSAT183033.1 lncRNA Schizophrenia 0.33 CCCTGCCGCG(C > G,T)GGGAGGCGGC chr2: 165957215 0.7778,0.2222,. 0.82591902395514780,0.17403319317023445,0.00004778287461773 Region score:0.15; TSS score:0.24; Unmatched score:0.23; Average GERP:0 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000626809; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SCN1A-AS1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000236107; TranscriptID:ENST00000597623; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TTC21B; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000123607; TranscriptID:ENST00000243344; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002225 27225129 NONHSAT089768.2 rs11712056 T N/A 280,007 european ancestry individuals EFO_0004784 N/A Associate Educational attainment (college completion) rs11712056-T of NONHSAT089768.2 is significantly associated with the educational attainment (college completion) by using GWAS analysis in 280,007 european ancestry individuals(p-value = 2E-16 ;OR = 1.0500073). 0.4 Genome-wide association study identifies 74 loci associated with educational attainment. genome-wide association analysis NONHSAT089768.2 lncRNA Self reported educational attainment 0.33 TGATGAGATG(T > C)TGTTGGGCTC chr3: 49876964 0.6845,0.3155 0.59832919215086646,0.40167080784913353 Region score:0.48; TSS score:0.14; Unmatched score:0.44; Average GERP:0.28922673267326726 GeneName:ACTBP13; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000234667; TranscriptID:ENST00000423971; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002226 26451028 NONHSAT167243.1 rs2391776 C N/A 1,085 european ancestry elderly cases//6,688 european ancestry elderly controls EFO_0000712 N/A Associate White matter lesion progression rs2391776-C of NONHSAT167243.1 is significantly associated with the white matter lesion progression by using GWAS analysis in 1,085 european ancestry elderly cases//6,688 european ancestry elderly controls(p-value = 4E-6 ;OR = 1.724138). 0.4 White Matter Lesion Progression: Genome-Wide Search for Genetic Influences. genome-wide association analysis NONHSAT167243.1 lncRNA Stroke 0.33 AGGATTGCAG(C > T)GGCTACATCT chr13: 109591078 0.1807,0.8193 0.17780804026503567,0.82219195973496432 Region score:0.28; TSS score:0.2; Unmatched score:0.05; Average GERP:-0.9537158415841592 GeneName:AL163541.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000285534; TranscriptID:ENST00000650264; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002227 28166215 NONHSAT218622.1 rs1265120 C N/A 11,157 european ancestry cases//36,699 european ancestry controls//1,142 african american cases//2,380 african american controls//199 korean ancestry cases//6,741 korean ancestry controls//52 hispanic cases//548 hispanic controls.; 12,051 european ancestry cases//11,111 european ancestry controls//153 korean ancestry cases//205 korean ancestry controls. EFO_0000341 N/A Associate Chronic obstructive pulmonary disease rs1265120-C of NONHSAT218622.1 is significantly associated with the chronic obstructive pulmonary disease by using GWAS analysis in 11,157 european ancestry cases//36,699 european ancestry controls//1,142 african american cases//2,380 african american controls//199 korean ancestry cases//6,741 korean ancestry controls//52 hispanic cases//548 hispanic controls.; 12,051 european ancestry cases//11,111 european ancestry controls//153 korean ancestry cases//205 korean ancestry controls.(p-value = 4E-6 ;OR = 1.038). 0.4 Genetic loci associated with chronic obstructive pulmonary disease overlap with loci for lung function and pulmonary fibrosis. genome-wide association analysis NONHSAT218622.1 lncRNA Chronic obstructive pulmonary disease 0.33 TTAATATTAA(C > A)TTTTTGAAAG chr8: 102177843 0.3183,0.6817 0.32006562181447502,0.67993437818552497 Region score:0.28; TSS score:0.15; Unmatched score:0.04; Average GERP:-0.09887588504950501 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002228 27797806 NONHSAT186459.1 rs6431308 A N/A 1,778 european ancestry cases//5,376 european ancestry controls; 1,029 european ancestry cases//1,065 european ancestry controls EFO_0003108 N/A Associate Essential tremor rs6431308-A of NONHSAT186459.1 is significantly associated with the essential tremor by using GWAS analysis in 1,778 european ancestry cases//5,376 european ancestry controls; 1,029 european ancestry cases//1,065 european ancestry controls(p-value = 2E-7 ;OR = 1.2345679). 0.4 Genome-wide association study in essential tremor identifies three new loci. genome-wide association analysis NONHSAT186459.1 lncRNA Essential tremor 0.33 ATGGATTCAC(A > C)AGGTTCCATG chr2: 234898985 0.5661,0.4339 0.65790647298674821,0.34209352701325178 Region score:0.23; TSS score:0.19; Unmatched score:0.06; Average GERP:-0.7695089108910894 GeneName:AC010148.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000235726; TranscriptID:ENST00000427619; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000640678; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002229 28869590 NONHSAT017523.2 rs231362 G N/A 6,353 south asian ancestry cases//7,179 south asian ancestry controls//3,871 european ancestry cases//16,427 european ancestry controls//34,840 cases//114,981 controls; 7,888 south asian ancestry cases//20,679 south asian ancestry controls//387 european ancestry cases//2,092 european ancestry controls//19,998 east asian ancestry cases//30,983 east asian ancestry controls EFO_0001360 N/A Associate Type 2 diabetes rs231362-G of NONHSAT017523.2 is significantly associated with the type 2 diabetes by using GWAS analysis in 6,353 south asian ancestry cases//7,179 south asian ancestry controls//3,871 european ancestry cases//16,427 european ancestry controls//34,840 cases//114,981 controls; 7,888 south asian ancestry cases//20,679 south asian ancestry controls//387 european ancestry cases//2,092 european ancestry controls//19,998 east asian ancestry cases//30,983 east asian ancestry controls(p-value = 2E-11 ;OR = 0.064). 0.4 Identification of new susceptibility loci for type 2 diabetes and shared etiological pathways with coronary heart disease. genome-wide association analysis NONHSAT017523.2 lncRNA Type ii diabetes mellitus 0.451 GACCCTGCAC(A > G)TGACGGGCGA chr11: 2670241 0.2706,0.7294 0.35671508664627930,0.64328491335372069 Region score:0.24; TSS score:0.16; Unmatched score:0.14; Average GERP:-1.4549722772277227 GeneName:KCNQ1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000053918; TranscriptID:ENST00000155840; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:KCNQ1OT1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000269821; TranscriptID:ENST00000597346; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01947; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000276105; TranscriptID:ENST00000619507; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01948; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000276494; TranscriptID:ENST00000616504; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002229 20581827 NONHSAT017523.2 rs231362 G N/A 8,130 european ancestry cases//38,987 european ancestry controls; up to 34,412 european ancestry cases//59,925 european ancestry controls EFO_0001360 N/A Associate Type 2 diabetes rs231362-G of NONHSAT017523.2 is significantly associated with the type 2 diabetes by using GWAS analysis in 8,130 european ancestry cases//38,987 european ancestry controls; up to 34,412 european ancestry cases//59,925 european ancestry controls(p-value = 3E-13 ;OR = 1.08). 0.4 Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. genome-wide association analysis NONHSAT017523.2 lncRNA Type ii diabetes mellitus 0.451 GACCCTGCAC(A > G)TGACGGGCGA chr11: 2670241 0.2706,0.7294 0.35671508664627930,0.64328491335372069 Region score:0.24; TSS score:0.16; Unmatched score:0.14; Average GERP:-1.4549722772277227 GeneName:KCNQ1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000053918; TranscriptID:ENST00000155840; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:KCNQ1OT1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000269821; TranscriptID:ENST00000597346; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01947; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000276105; TranscriptID:ENST00000619507; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01948; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000276494; TranscriptID:ENST00000616504; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002230 29059683 NONHSAT164418.1 rs12422552 C N/A 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls EFO_0000305 N/A Associate Breast cancer rs12422552-C of NONHSAT164418.1 is significantly associated with the breast cancer by using GWAS analysis in 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls(p-value = 4E-15 ;OR = 1.06). 0.4 Association analysis identifies 65 new breast cancer risk loci. genome-wide association analysis NONHSAT164418.1 lncRNA Breast cancer 0.52 AGTCAGTCCA(G > C)GCCTGCAAGA chr12: 14260997 0.6647,0.3353 0.68872642711518858,0.31127357288481141 Region score:0.36; TSS score:0.53; Unmatched score:0.49; Average GERP:-1.144377623762376 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000451209; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002230 25751625 NONHSAT164418.1 rs12422552 C N/A 15,748 european ancestry cases//18,084 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls EFO_0000305 N/A Associate Breast cancer rs12422552-C of NONHSAT164418.1 is significantly associated with the breast cancer by using GWAS analysis in 15,748 european ancestry cases//18,084 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls(p-value = 1E-7 ;OR = 1.04). 0.4 Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer. genome-wide association analysis NONHSAT164418.1 lncRNA Breast cancer 0.52 AGTCAGTCCA(G > C)GCCTGCAAGA chr12: 14260997 0.6647,0.3353 0.68872642711518858,0.31127357288481141 Region score:0.36; TSS score:0.53; Unmatched score:0.49; Average GERP:-1.144377623762376 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000451209; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002230 23535729 NONHSAT164418.1 rs12422552 C N/A 10,052 european ancestry cases//12,575 european ancestry controls; 45,290 european ancestry cases//41,880 european ancestry controls EFO_0000305 N/A Associate Breast cancer rs12422552-C of NONHSAT164418.1 is significantly associated with the breast cancer by using GWAS analysis in 10,052 european ancestry cases//12,575 european ancestry controls; 45,290 european ancestry cases//41,880 european ancestry controls(p-value = 4E-8 ;OR = 1.05). 0.4 Large-scale genotyping identifies 41 new loci associated with breast cancer risk. genome-wide association analysis NONHSAT164418.1 lncRNA Breast cancer 0.52 AGTCAGTCCA(G > C)GCCTGCAAGA chr12: 14260997 0.6647,0.3353 0.68872642711518858,0.31127357288481141 Region score:0.36; TSS score:0.53; Unmatched score:0.49; Average GERP:-1.144377623762376 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000451209; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002231 23906647 miR-96 rs4626538 ? N/a 695 adults with adhd (266 and 396 subjects with and without comorbid sud, respectively), 403 subjects with sud without life-time diagnosis of adhd and 485 sex-matched controls from spain EFO_0003888 N/A No significance for risk Attention deficit-hyperactivity disorder rs4626538-? of miR-96 and its dysfunction is not significantly associated with Attention deficit-hyperactivity disorder by using case-control analysis in 695 adults with ADHD (266 and 396 subjects with and without comorbid SUD, respectively), 403 subjects with SUD without life-time diagnosis of ADHD and 485 sex-matched controls from Spain. -0.4 Evaluation of single nucleotide polymorphisms in the miR-183-96-182 cluster in adulthood attention-deficit and hyperactivity disorder (ADHD) and substance use disorders (SUDs). case-control analysis hsa-mir-96 miRNA Attention deficit hyperactivity disorder -0.33 GGCTCCTCGC(G > A,T)GTTTGGTGAT chr7: 129773348 0.6134,.,0.3866 0.49256179918450560,0.00003981906218144,0.50739838175331294 Region score:0.3; TSS score:0.33; Unmatched score:0.33; Average GERP:-0.8320069306930695 GeneName:MIR182; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207990; TranscriptID:ENST00000385255; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR183; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207691; TranscriptID:ENST00000384958; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR96; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000199158; TranscriptID:ENST00000362288; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002232 24262325 NONHSAT208057.1 rs12190287 ? N/A 33,398 cases//75,726 controls EFO_0000378 N/A Associate Coronary artery disease rs12190287-? of NONHSAT208057.1 is significantly associated with the coronary artery disease by using GWAS analysis in 33,398 cases//75,726 controls(p-value = 2E-9 ;OR = 1.1111). 0.4 Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants. genome-wide association analysis NONHSAT208057.1 lncRNA Coronary artery disease 0.33 ACTTCGGTGA(C > G,T)TTCATCCACC chr6: 133893387 0.6619,0.3381,. 0.70345948012232415,0.29426286952089704,0.00227765035677879 Region score:0.41; TSS score:0.79; Unmatched score:0.83; Average GERP:-1.0016544554455442 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000806026; AnnoType:REGULATORY; mirSVR-Score:-0.1666; mirSVR-E:-14.74 | GeneName:TARID; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000227954; TranscriptID:ENST00000630728; AnnoType:UPSTREAM; mirSVR-Score:-0.1666; mirSVR-E:-14.74 | GeneName:TCF21; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000118526; TranscriptID:ENST00000367882; AnnoType:3PRIME_UTR; mirSVR-Score:-0.1666; mirSVR-E:-14.74 | NCRV0000002233 24816252 NONHSAT067101.2 rs601338 A N/A up to 5,591 european ancestry individuals; up to 1,767 european ancestry individuals EFO_0005664 N/A Associate Blood metabolite levels rs601338-A of NONHSAT067101.2 is significantly associated with the blood metabolite levels by using GWAS analysis in up to 5,591 european ancestry individuals; up to 1,767 european ancestry individuals(p-value = 3E-11 ;OR = 0.041). 0.4 An atlas of genetic influences on human blood metabolites. genome-wide association analysis NONHSAT067101.2 lncRNA Blood metabolite measurement 0.33 CCCTGCTCCT(G > A)GACCTTCTAC chr19: 48703417 0.6783,0.3217 0.56130542813455657,0.43869457186544342 Region score:0.3; TSS score:0.27; Unmatched score:0.42; Average GERP:1.9995544554455458 GeneName:FUT2; CADD-Score:8; Consquence:stop_gained; GeneID:ENSG00000176920; TranscriptID:ENST00000425340; AnnoType:STOP_GAINED; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002234 27989323 NONHSAT190332.1 rs182235288 G N/A 8,293 finnish ancestry individuals EFO_0008264 N/A Associate Platelet-derived growth factor bb levels rs182235288-G of NONHSAT190332.1 is significantly associated with the platelet-derived growth factor bb levels by using GWAS analysis in 8,293 finnish ancestry individuals(p-value = 8E-6 ;OR = 0.9021). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. genome-wide association analysis NONHSAT190332.1 lncRNA Platelet-derived growth factor bb measurement 0.33 CATGCTCACA(G > T)TAGGATATTG chr20: 40593087 0.9996,0.0003994 0.99941864169215086,0.00058135830784913 Region score:0.42; TSS score:0.27; Unmatched score:0.13; Average GERP:-1.1098726732673267 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000651158; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002235 19734900 NONHSAT200935.1 rs4689388 T N/A 679 european ancestry cases//697 european ancestry controls; 5,579 european ancestry cases//7,096 european ancestry controls EFO_0001360 N/A Associate Type 2 diabetes and other traits rs4689388-T of NONHSAT200935.1 is significantly associated with the type 2 diabetes and other traits by using GWAS analysis in 679 european ancestry cases//697 european ancestry controls; 5,579 european ancestry cases//7,096 european ancestry controls(p-value = 1E-8 ;OR = 1.16). 0.4 Genetic variant near IRS1 is associated with type 2 diabetes, insulin resistance and hyperinsulinemia. genome-wide association analysis NONHSAT200935.1 lncRNA Type ii diabetes mellitus 0.451 TCTTAGCTCC(G > A)TGGAGTATGT chr4: 6268329 0.2574,0.7426 0.34209352701325178,0.65790647298674821 Region score:0.37; TSS score:0.54; Unmatched score:0.63; Average GERP:-0.9702534653465346 GeneName:WFS1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000109501; TranscriptID:ENST00000226760; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002235 28869590 NONHSAT200935.1 rs4689388 A N/A 6,353 south asian ancestry cases//7,179 south asian ancestry controls//3,871 european ancestry cases//16,427 european ancestry controls//34,840 cases//114,981 controls; 7,888 south asian ancestry cases//20,679 south asian ancestry controls//387 european ancestry cases//2,092 european ancestry controls//19,998 east asian ancestry cases//30,983 east asian ancestry controls EFO_0001360 N/A Associate Type 2 diabetes rs4689388-A of NONHSAT200935.1 is significantly associated with the type 2 diabetes by using GWAS analysis in 6,353 south asian ancestry cases//7,179 south asian ancestry controls//3,871 european ancestry cases//16,427 european ancestry controls//34,840 cases//114,981 controls; 7,888 south asian ancestry cases//20,679 south asian ancestry controls//387 european ancestry cases//2,092 european ancestry controls//19,998 east asian ancestry cases//30,983 east asian ancestry controls(p-value = 1E-15 ;OR = 0.075). 0.4 Identification of new susceptibility loci for type 2 diabetes and shared etiological pathways with coronary heart disease. genome-wide association analysis NONHSAT200935.1 lncRNA Type ii diabetes mellitus 0.451 TCTTAGCTCC(G > A)TGGAGTATGT chr4: 6268329 0.2574,0.7426 0.34209352701325178,0.65790647298674821 Region score:0.37; TSS score:0.54; Unmatched score:0.63; Average GERP:-0.9702534653465346 GeneName:WFS1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000109501; TranscriptID:ENST00000226760; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002236 22711332 miRNA-146a rs2910164 C N/A 233 NPC patients, 173 matched controls and 3613 healthy elderly subjects EFO_1000058 N/A increasing risk nasopharyngeal squamous cell carcinoma rs2910164-C of hsa-mir-146a and its dysfunction is significantly associated with the increasing risk of Nasopharyngeal squamous cell carcinoma by using case-control analysis in 233 NPC patients, 173 matched controls and 3613 healthy elderly subjects 0.9 A single nucleotide polymorphism in microRNA-146a is associated with the risk for nasopharyngeal carcinoma. case-control analysis hsa-mir-146a miRNA Nasopharyngeal squamous cell carcinoma 0.593 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 0 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002237 27531892 miR-155 rs767649 T Dominant 1500 chinese patients with sporadic hcc and 1500 healthy controls EFO_0000182 N/A Increased risk and poor prognosis Hepatocellular carcinoma rs767649-T of miR-155 and its dysfunction is significantly associated with the increasing risk and poor prognosis of hepatocellular carcinoma by using case-control analysis in 1500 Chinese patients with sporadic HCC and 1500 healthy controls. 0.4 MiR-155 and its functional variant rs767649 contribute to the susceptibility and survival of hepatocellular carcinoma. case-control analysis hsa-mir-155 miRNA Hepatocellular cancer 0.33 AAAAACACTG(T > A)CACTTTTCTG chr21: 25572410 0.852,0.148 0.91390322375127420,0.08609677624872579 Region score:0.3; TSS score:0.43; Unmatched score:0.61; Average GERP:0.280691089108911 GeneName:MIR155; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000283904; TranscriptID:ENST00000385060; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR155HG; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000234883; TranscriptID:ENST00000456917; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002238 25586347 HOTAIR rs920778 C recessive 245 Turkish women including 123 BC patients and 122 age-matched healthy controls EFO_0000305 N/A increasing risk breast carcinoma rs920778-C of HOTAIR and its dysfunction is significantly associated with the increasing risk of Breast carcinoma by using case-control analysis in 245 Turkish women including 123 BC patients and 122 age-matched healthy controls 0.4 Effect of HOTAIR rs920778 polymorphism on breast cancer susceptibility and clinicopathologic features in a Turkish population. case-control analysis HOTAIR lncRNA Breast carcinoma 0.451 TGAATGTTAC(G > A)GTTTCCTTCA chr12: 53966448 0.4401,0.5599 0.43194922273190621,0.56805077726809378 Region score:0.25; TSS score:0.53; Unmatched score:0.76; Average GERP:2.310435643564358 GeneName:AC012531.4; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000274817; TranscriptID:ENST00000616509; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC012531.5; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277129; TranscriptID:ENST00000611375; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOTAIR; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000228630; TranscriptID:ENST00000424518; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000458643; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01905; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000275589; TranscriptID:ENST00000611210; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01906; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000277994; TranscriptID:ENST00000611352; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002238 26547792 HOTAIR rs920778 T Dominant 502 breast cancer cases and 504 matched controls in china EFO_0000305 N/A Increasing risk Breast cancer rs920778-T of HOTAIR and its dysfunction is significantly associated with the increasing risk of breast cancer by using case-control analysis in 502 breast cancer cases and 504 matched controls in China. 0.4 Polymorphisms in lncRNA HOTAIR and susceptibility to breast cancer in a Chinese population. case-control analysis HOTAIR lncRNA Breast cancer 0.451 TGAATGTTAC(G > A)GTTTCCTTCA chr12: 53966448 0.4401,0.5599 0.43194922273190621,0.56805077726809378 Region score:0.25; TSS score:0.53; Unmatched score:0.76; Average GERP:2.310435643564358 GeneName:AC012531.4; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000274817; TranscriptID:ENST00000616509; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC012531.5; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277129; TranscriptID:ENST00000611375; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOTAIR; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000228630; TranscriptID:ENST00000424518; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000458643; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01905; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000275589; TranscriptID:ENST00000611210; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01906; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000277994; TranscriptID:ENST00000611352; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002239 28928442 NONHSAT169617.1 rs12884098 ? N/A 12,000 european ancestry cases//71,597 european ancestry controls EFO_0008418 N/A Associate Rubella rs12884098-? of NONHSAT169617.1 is significantly associated with the rubella by using GWAS analysis in 12,000 european ancestry cases//71,597 european ancestry controls(p-value = 6E-6 ;OR = 0.1834). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. genome-wide association analysis NONHSAT169617.1 lncRNA Susceptibility to rubella infection measurement 0.33 GTTCCAGACC(G > A,C)GCCTGACCAA chr14: 90523409 0.9732,0.02676,. 0.96614583333333333,0.03376656472986748,0.00008760193679918 Region score:0.29; TSS score:0.32; Unmatched score:0.19; Average GERP:0.09926767676767671 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000505100; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TTC7B; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000165914; TranscriptID:ENST00000328459; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002240 26708285 NONHSAT101414.2 rs16880442 G N/A 2,563 saudi arab ancestry cases//1,868 saudi arab ancestry controls; 866 saudi arab ancestry cases//371 saudi arab ancestry controls EFO_0000612 N/A Associate Myocardial infarction rs16880442-G of NONHSAT101414.2 is significantly associated with the myocardial infarction by using GWAS analysis in 2,563 saudi arab ancestry cases//1,868 saudi arab ancestry controls; 866 saudi arab ancestry cases//371 saudi arab ancestry controls(p-value = 2E-8 ;OR = 1.4084507). 0.4 A genome-wide association study reveals susceptibility loci for myocardial infarction/coronary artery disease in Saudi Arabs. genome-wide association analysis NONHSAT101414.2 lncRNA Myocardial infarction 0.33 TGGAGGCCAA(G > A,T)ACTCTCCTTC chr5: 52889863 0.9175,.,0.08247 0.92185907237512742,0.00002389143730886,0.07811703618756371 Region score:0.18; TSS score:0.05; Unmatched score:0.34; Average GERP:-0.11120891089108906 GeneName:B3GNTL1P1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000251237; TranscriptID:ENST00000509174; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ITGA1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000213949; TranscriptID:ENST00000282588; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002241 27863252 NONHSAT203752.1 rs13181874 C N/A 172,851 european ancestry individuals EFO_0004527 N/A Associate Mean corpuscular hemoglobin concentration rs13181874-C of NONHSAT203752.1 is significantly associated with the mean corpuscular hemoglobin concentration by using GWAS analysis in 172,851 european ancestry individuals(p-value = 2E-22 ;OR = 0.03475236). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT203752.1 lncRNA Mean corpuscular hemoglobin 0.33 CTCCTGGCTA(G > C)CCCAACCTGG chr5: 1112757 0.6757,0.3243 0.58255287971457696,0.41744712028542303 Region score:0.37; TSS score:0.7; Unmatched score:0.83; Average GERP:-0.4250947524752477 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000746674; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SLC12A7; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000113504; TranscriptID:ENST00000264930; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002242 27601451 5p15.33 rs186066047 A Dominant 16,415 Hispanic/Latino individuals EFO_0006343 N/A increasing risk chronic periodontitis rs186066047-A of 5p15.33 and its dysfunction is significantly associated with the increasing risk of Chronic periodontitis by using genome-wide association analysis in 16,415 Hispanic/Latino individuals 0.4 Chronic Periodontitis Genome-wide Association Study in the Hispanic Community Health Study / Study of Latinos. genome-wide association analysis 5p15.33 Noncoding region Chronic periodontitis 0.33 TATTAAAAGA(G > A)ACTGATATTT chr5: 3875660 0.9966,0.003395 0.99554026503567787,0.00445973496432212 Region score:0.27; TSS score:0.16; Unmatched score:0.13; Average GERP:-1.1908168316831682 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002243 20662065 NONHSAT011111.2 rs1391511 ? N/A 116 european ancestry cases//3,351 european ancestry controls EFO_0004537 N/A Associate Neonatal lupus rs1391511-? of NONHSAT011111.2 is significantly associated with the neonatal lupus by using GWAS analysis in 116 european ancestry cases//3,351 european ancestry controls(p-value = 7E-6 ;OR = 1.84). 0.4 Identification of candidate loci at 6p21 and 21q22 in a genome-wide association study of cardiac manifestations of neonatal lupus. genome-wide association analysis NONHSAT011111.2 lncRNA Neonatal systemic lupus erthematosus 0.33 GTGAAGCTCC(A > G)TAATCATTCT chr10: 4677604 0.5767,0.4233 0.53590086646279306,0.46409913353720693 Region score:0.19; TSS score:0.43; Unmatched score:0.83; Average GERP:-0.29807584158415856 GeneName:MANCR; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000231298; TranscriptID:ENST00000430998; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000394517; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002244 26113018 miRNA133-A2 rs6062251 T N/A blood sample from 205 patients EFO_0009167 N/A higher warfarin dose warfarin dosing variability rs6062251-T of hsa-mir-133a-2 and its dysfunction is significantly associated with the Response to warfarin by using analysis of sequence variation in blood sample from 205 patients 0.4 Could MicroRNA polymorphisms influence warfarin dosing? A pharmacogenetics study on mir133 genes. analysis of sequence variation hsa-mir-133a-2 miRNA Response to warfarin 0.33 ACCCAGCAGG(T > C)GGCGCGGGGA chr20: 62565060 0.4233,0.5767 0.38167367482161060,0.61832632517838939 Region score:0.19; TSS score:0.27; Unmatched score:0.61; Average GERP:-0.9281297029702971 GeneName:MIR1-1HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000174407; TranscriptID:ENST00000624914; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR133A2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000284508; TranscriptID:ENST00000347538; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000657286; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002245 23535033 NONHSAT203027.1 rs112724034 ? N/A 303 european ancestry cases; EFO_0000249 N/A Associate Alzheimer's disease (cognitive decline) rs112724034-? of NONHSAT203027.1 is significantly associated with the alzheimer's disease (cognitive decline) by using GWAS analysis in 303 european ancestry cases; (p-value = 9E-13 ;OR = 0.31). 0.4 Genome-wide association study of the rate of cognitive decline in Alzheimer's disease. genome-wide association analysis NONHSAT203027.1 lncRNA Alzheimers disease 0.33 CCGCGTGCCC(C > T)ACGCCCAGGC chr5: 109885325 0.9361,0.0639 0.94100407747196738,0.05899592252803261 Region score:0.32; TSS score:0.38; Unmatched score:0.69; Average GERP:-0.5014594059405939 GeneName:LINC01848; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000254106; TranscriptID:ENST00000523446; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PGAM5P1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253224; TranscriptID:ENST00000518923; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002246 28240100 SOX2OT rs9839776 T Dominant 505 newly diagnosed breast cancer patients and 601 age-matched controls (隆脌2 years) in a chinese population EFO_0000305 N/A Increasing risk Breast cancer rs9839776-T of SOX2OT and its dysfunction is significantly associated with the increasing risk of breast cancer by using case-control analysis in 505 newly diagnosed breast cancer patients and 601 age-matched controls (隆脌2 years) in a Chinese population. 0.4 Correlations between lncRNA-SOX2OT polymorphism and susceptibility to breast cancer in a Chinese population. case-control analysis SOX2OT lncRNA Breast cancer 0.33 TTCCACACAA(C > G,T)GATAACAGAG chr3: 181593779 0.7248,.,0.2752 0.69494616462793068,.,0.30505383537206931 Region score:0.33; TSS score:0.19; Unmatched score:0.01; Average GERP:-0.6213635643564356 GeneName:AC125613.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000239381; TranscriptID:ENST00000636224; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SOX2-OT; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000242808; TranscriptID:ENST00000646698; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002247 24057671 NONHSAT178272.1 rs4331426 ? N/A 642 south african coloured cases//91 south african coloured controls//(see thye 2010) Orphanet_3389 N/A Associate Tuberculosis rs4331426-? of NONHSAT178272.1 is significantly associated with the tuberculosis by using GWAS analysis in 642 south african coloured cases//91 south african coloured controls//(see thye 2010)(p-value = 2E-8 ;OR = ?). 0.4 Genome-wide association study of ancestry-specific TB risk in the South African Coloured population. genome-wide association analysis NONHSAT178272.1 lncRNA Tuberculosis 0.451 CTACCAATGC(G > A)CAGGAATTTT chr18: 22610832 0.1695,0.8305 0.14725089194699286,0.85274910805300713 Region score:0.24; TSS score:0.29; Unmatched score:0.12; Average GERP:-0.4978910891089112 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002247 20694014 NONHSAT178272.1 rs4331426 G N/A 2,237 sub-saharan african ancestry cases//3,122 sub-saharan african ancestry controls; 1,462 sub-saharan african ancestry cases//4,604 sub-saharan african ancestry controls Orphanet_3389 N/A Associate Tuberculosis rs4331426-G of NONHSAT178272.1 is significantly associated with the tuberculosis by using GWAS analysis in 2,237 sub-saharan african ancestry cases//3,122 sub-saharan african ancestry controls; 1,462 sub-saharan african ancestry cases//4,604 sub-saharan african ancestry controls(p-value = 7E-9 ;OR = 1.19). 0.4 Genome-wide association analyses identifies a susceptibility locus for tuberculosis on chromosome 18q11.2. genome-wide association analysis NONHSAT178272.1 lncRNA Tuberculosis 0.451 CTACCAATGC(G > A)CAGGAATTTT chr18: 22610832 0.1695,0.8305 0.14725089194699286,0.85274910805300713 Region score:0.24; TSS score:0.29; Unmatched score:0.12; Average GERP:-0.4978910891089112 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002248 22778062 SNORD115-25 rs34280431 A N/a N/a function N/A Not significant changes in the structure Function rs34280431-A of SNORD115-25 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD115-25 snoRNA Function -0.049 ATAGGATTAC(G > A)CTGAGGCCCA chr15: 25215613 0.983,0.01697 0.97396629714576962,0.02603370285423037 Region score:0.29; TSS score:0.13; Unmatched score:0.48; Average GERP:-0.13765742574257428 GeneName:SNHG14; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000224078; TranscriptID:ENST00000424333; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0161; mirSVR-E:-17.97 | GeneName:SNORD115-23; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000201331; TranscriptID:ENST00000364461; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0161; mirSVR-E:-17.97 | GeneName:SNORD115-24; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000200398; TranscriptID:ENST00000363528; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0161; mirSVR-E:-17.97 | GeneName:SNORD115-25; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000199489; TranscriptID:ENST00000362619; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0161; mirSVR-E:-17.97 | GeneName:SNORD115-26; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000275524; TranscriptID:ENST00000365067; AnnoType:UPSTREAM; mirSVR-Score:-0.0161; mirSVR-E:-17.97 | GeneName:SNORD115-27; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000201300; TranscriptID:ENST00000364430; AnnoType:UPSTREAM; mirSVR-Score:-0.0161; mirSVR-E:-17.97 | NCRV0000002249 24665060 NONHSAT166233.1 rs7327673 ? N/A 754 bangladeshi ancestry never smoker males//2,565 bangladeshi ancestry never smoker females//1,837 bangladeshi ancestry ever smoker males//198 bangladeshi ancestry ever smoker females EFO_0005670 N/A Associate Smoking initiation rs7327673-? of NONHSAT166233.1 is significantly associated with the smoking initiation by using GWAS analysis in 754 bangladeshi ancestry never smoker males//2,565 bangladeshi ancestry never smoker females//1,837 bangladeshi ancestry ever smoker males//198 bangladeshi ancestry ever smoker females(p-value = 4E-6 ;OR = ?). 0.4 Genome-wide association study of smoking behaviours among Bangladeshi adults. genome-wide association analysis NONHSAT166233.1 lncRNA Smoking initiation 0.33 CTAGCTATTA(A > G,T)TGTCCAAATG chr13: 105787017 0.3241,0.6759,. 0.26629396024464831,0.73264685270132517,0.00105918705402650 Region score:0.37; TSS score:0.26; Unmatched score:0.03; Average GERP:-1.0430040594059409 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002250 27526323 PCAT1 rs7463708 T N/a 127 prostate cancer patients EFO_0001663 N/A Increased risk and poor prognosis Prostate cancer rs7463708-T of PCAT1 and its dysfunction is significantly associated with the increasing risk and poor prognosis of prostate cancer by using meta-analysis in 127 prostate cancer patients. By using the disease cell lines or tissues, the interference and mutation of PCAT1 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. Moreover, the ncRNA variation-disease association was validated by complex experiments. 1.4 Modulation of long noncoding RNAs by risk SNPs underlying genetic predispositions to prostate cancer. meta-analysis; Function; Mechanism PCAT1 lncRNA Prostate cancer 0.753 TCACTATTCA(G > T)GGATTATTTG chr8: 127091810 0.6556,0.3444 0.71900484199796126,0.28099515800203873 Region score:0.15; TSS score:0.19; Unmatched score:0.07; Average GERP:0.021471700000000035 GeneName:AC020688.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000224722; TranscriptID:ENST00000519282; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CASC19; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000254166; TranscriptID:ENST00000642100; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PCAT1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000253438; TranscriptID:ENST00000646670; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PRNCR1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000282961; TranscriptID:ENST00000635449; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002251 29803923 HULC rs1328868 A N/a 521 patients and 817 sex- and age (隆脌5) frequency-matched controls in the risk study; among them, 351 hepatocellular cancer patients were involved in the prognosis study. EFO_0000182 N/A No significance for risk Hepatocellular cancer rs1328868-A of HULC and its dysfunction is not significantly associated with hepatocellular cancer by using case-control analysis in 521 patients and 817 sex- and age (隆脌5) frequency-matched controls in the risk study; Among them, 351 hepatocellular cancer patients were involved in the prognosis study. . -0.4 The association of lncRNA-HULC polymorphisms with hepatocellular cancer risk and prognosis. case-control analysis HULC lncRNA Hepatocellular cancer -0.33 CCAGACCATG(C > T)AGGAACTCTG chr6: 8652345 0.6667,0.3333 0.64934537461773700,0.35065462538226299 Region score:0.36; TSS score:0.61; Unmatched score:0.9; Average GERP:-0.583720891089109 GeneName:AL355499.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000285216; TranscriptID:ENST00000644718; AnnoType:INTRONIC; mirSVR-Score:-0.3521; mirSVR-E:-22.00 | GeneName:AL591485.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000285219; TranscriptID:ENST00000642357; AnnoType:INTRONIC; mirSVR-Score:-0.3521; mirSVR-E:-22.00 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000192893; AnnoType:REGULATORY; mirSVR-Score:-0.3521; mirSVR-E:-22.00 | GeneName:RF02101; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000276019; TranscriptID:ENST00000612720; AnnoType:UPSTREAM; mirSVR-Score:-0.3521; mirSVR-E:-22.00 | NCRV0000002252 28247064 NONHSAT192614.1 rs112879682 A N/A 3,146 individuals EFO_0000249 N/A Associate Cerebrospinal t-tau levels rs112879682-A of NONHSAT192614.1 is significantly associated with the cerebrospinal t-tau levels by using GWAS analysis in 3,146 individuals(p-value = 7E-6 ;OR = 0.087). 0.4 Genome-wide association study identifies four novel loci associated with Alzheimer's endophenotypes and disease modifiers. genome-wide association analysis NONHSAT192614.1 lncRNA Alzheimers disease 0.33 TGAGTTGTAG(G > A)TTGTGTCACT chr22: 18124871 0.893,0.107 0.95623088685015290,0.04376911314984709 Region score:0.32; TSS score:0.1; Unmatched score:0.07; Average GERP:-0.6050108910891088 GeneName:AC008079.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000280007; TranscriptID:ENST00000623543; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000666103; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PEX26; CADD-Score:2; Consquence:intron,NMD; GeneID:ENSG00000215193; TranscriptID:ENST00000474897; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TUBA8; CADD-Score:2; Consquence:intron; GeneID:ENSG00000183785; TranscriptID:ENST00000330423; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002253 29186694 NONHSAT188876.1 rs348276 ? N/A 107,207 european ancestry individuals EFO_0008354 N/A Associate Cognitive ability rs348276-? of NONHSAT188876.1 is significantly associated with the cognitive ability by using GWAS analysis in 107,207 european ancestry individuals(p-value = 1E-8 ;OR = 5.699). 0.4 Large-Scale Cognitive GWAS Meta-Analysis Reveals Tissue-Specific Neural Expression and Potential Nootropic Drug Targets. genome-wide association analysis NONHSAT188876.1 lncRNA Cognitive function measurement 0.33 AGTTTGAAAC(G > A)CAAAGATTCT chr20: 49169653 0.7029,0.2971 0.66018412334352701,0.33981587665647298 Region score:0.32; TSS score:0.18; Unmatched score:0.19; Average GERP:-0.11903663366336638 GeneName:STAU1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000124214; TranscriptID:ENST00000371856; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002254 25378659 NONHSAT214689.1 rs579090 A N/A 10,129 european ancestry individuals EFO_0006796 N/A Associate Very long-chain saturated fatty acid levels (fatty acid 20:0) rs579090-A of NONHSAT214689.1 is significantly associated with the very long-chain saturated fatty acid levels (fatty acid 20:0) by using GWAS analysis in 10,129 european ancestry individuals(p-value = 8E-6 ;OR = 4.46). 0.4 Genetic loci associated with circulating levels of very long-chain saturated fatty acids. genome-wide association analysis NONHSAT214689.1 lncRNA Very long-chain saturated fatty acid measurement 0.33 CGTTGTATGG(T > A)CTCTTCAGGC chr7: 54728759 0.9932,0.006789 0.98340341488277268,0.01659658511722731 Region score:0.26; TSS score:0.14; Unmatched score:0.05; Average GERP:-0.36420554455445553 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000825850; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002255 22818121 miR-196a2 rs11614913 C N/a 388 patients with nsclc EFO_0003060 N/A Decreasing risk Non-small cell lung cancer rs11614913-C of miR-196a2 and its dysfunction is significantly associated with the decreasing risk of non-small cell lung cancer by using analysis of sequence variation in 388 patients with NSCLC. 0.4 The prognostic impact of microRNA sequence polymorphisms on the recurrence of patients with completely resected non-small cell lung cancer. analysis of sequence variation hsa-mir-196a-2 miRNA Non-small cell lung cancer 0.667 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002255 18521189 hsa-mir-196a2 rs11614913 CC recessive 663 individuals with non-small cell lung cancer EFO_0003060 N/A poor prognosis non-small cell lung carcinoma rs11614913-CC of hsa-mir-196a-2 and its dysfunction is significantly associated with the increasing risk of Non-small cell lung carcinoma by using case-control analysis in 663 individuals with non-small cell lung cancer 0.9 Genetic variants of miRNA sequences and non-small cell lung cancer survival. case-control analysis hsa-mir-196a-2 miRNA Non-small cell lung carcinoma 0.667 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002256 27989323 NONHSAT206588.1 rs6900267 C N/A 3,522 finnish ancestry individuals EFO_0005140 N/A Associate Macrophage inflammatory protein 1a levels rs6900267-C of NONHSAT206588.1 is significantly associated with the macrophage inflammatory protein 1a levels by using GWAS analysis in 3,522 finnish ancestry individuals(p-value = 3E-6 ;OR = 0.2429). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. genome-wide association analysis NONHSAT206588.1 lncRNA Autoimmune disease 0.33 GGGGCTCCCT(C > A,T)CCCACGGTCT chr6: 380341 0.2035,0.7965,. 0.17216966106014271,0.82737640163098878,0.00045393730886850 Region score:0.31; TSS score:0.56; Unmatched score:0.32; Average GERP:-1.3054773267326731 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000319052; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002257 26053186 NONHSAT195356.1 rs17041333 ? N/A 361 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//440 european ancestry current smoker individuals//452 latino current smoker individuals//702 japanese ancestry current smoker individuals EFO_0001071 in smokers Associate 3-hydroxy-1-methylpropylmercapturic acid levels in smokers rs17041333-? of NONHSAT195356.1 is significantly associated with the 3-hydroxy-1-methylpropylmercapturic acid levels in smokers by using GWAS analysis in 361 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//440 european ancestry current smoker individuals//452 latino current smoker individuals//702 japanese ancestry current smoker individuals(p-value = 3E-8 ;OR = 0.8959). 0.4 Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer. genome-wide association analysis NONHSAT195356.1 lncRNA Lung cancer 0.33 CATCAGATTC(T > G)CAGCAGGGAC chr3: 4751322 0.879,0.121 0.92059282619775739,0.07940717380224260 Region score:0.33; TSS score:0.33; Unmatched score:0.81; Average GERP:-1.0580376237623763 GeneName:AC018816.2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000275981; TranscriptID:ENST00000621460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:EGOT; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000235947; TranscriptID:ENST00000414938; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ITPR1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000150995; TranscriptID:ENST00000302640; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000675932; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002258 25673459 miR-146a rs2910164 G N/A 995 patients newly diagnosed with T2DM and 967 controls. EFO_0001360 N/A no significance for risk type II diabetes mellitus rs2910164-G of hsa-mir-146a and its dysfunction is not significantly associated with Type ii diabetes mellitus by using case-control analysis in 995 patients newly diagnosed with T2DM and 967 controls. -0.4 Affection of single-nucleotide polymorphisms in miR-27a, miR-124a, and miR-146a on susceptibility to type 2 diabetes mellitus in Chinese Han people. case-control analysis hsa-mir-146a miRNA Type ii diabetes mellitus 0 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 0 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002258 28164605 miR-146a rs2910164 C Recessive 183 type 2 diabetic and 192 non-diabetic subjects EFO_0001360 N/A Increasing risk Type 2 diabetes rs2910164-C of miR-146a and its dysfunction is significantly associated with the increasing risk of type 2 diabetes by using case-control analysis in 183 type 2 diabetic and 192 non-diabetic subjects. 0.4 Association of miR-146a rs2910164 and miR-149 rs2292832 Variants with Susceptibility to Type 2 Diabetes. case-control analysis hsa-mir-146a miRNA Type ii diabetes mellitus 0 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 N/A 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002259 27328823 miR-1229 rs2291418 A N/A 17,008 AD cases and 37,154 controls EFO_0000249 N/A increasing risk Alzheimer's disease rs2291418-A of hsa-mir-1229 and its dysfunction is significantly associated with the increasing risk of Alzheimers disease by using case-control analysis in 17,008 AD cases and 37,154 controls 0.9 Genome-wide identification of microRNA-related variants associated with risk of Alzheimer's disease. case-control analysis hsa-mir-1229 miRNA Alzheimers disease 0.593 CCCAGCCCAC(G > A)CTCTCCCCCA chr5: 179798324 0.9724,0.02756 0.96515035677879714,0.03484964322120285 Region score:0.53; TSS score:0.11; Unmatched score:0.5; Average GERP:0.3889683168316833 GeneName:LTC4S; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000213316; TranscriptID:ENST00000292596; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MGAT4B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000161013; TranscriptID:ENST00000337755; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR1229; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000221394; TranscriptID:ENST00000408467; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002260 24024966 NONHSAT209960.1 rs78797168 A N/A up to 3,915 european ancestry individuals EFO_0000649 N/A Associate Periodontitis (cdc/aap) rs78797168-A of NONHSAT209960.1 is significantly associated with the periodontitis (cdc/aap) by using GWAS analysis in up to 3,915 european ancestry individuals(p-value = 2E-6 ;OR = 1.75). 0.4 Genome-wide association study of chronic periodontitis in a general German population. genome-wide association analysis NONHSAT209960.1 lncRNA Periodontitis 0.33 GAGGACACAA(A > G)GTGGTGTGCT chr6: 160038159 0.9243,0.07568 0.93997674566768603,0.06002325433231396 Region score:0.31; TSS score:0.14; Unmatched score:0.12; Average GERP:-1.0562948514851485 GeneName:IGF2R; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197081; TranscriptID:ENST00000356956; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002261 25608926 NONHSAT221073.1 rs12348691 G N/A 2,332 european ancestry cases and 5,233 european ancestry controls; 764 european ancestry cases and 2,256 european ancestry controls EFO_0004192 N/A Associate Alopecia areata rs12348691-G of NONHSAT221073.1 is significantly associated with the alopecia areata by using GWAS analysis in 2,332 european ancestry cases and 5,233 european ancestry controls; 764 european ancestry cases and 2,256 european ancestry controls(p-value = 9E-7 ;OR = 1.1840065). 0.4 Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci. genome-wide association analysis NONHSAT221073.1 lncRNA Alopecia areata 0.33 GTTTGGCCTC(G > A)CCAGGGCTCA chr9: 97846400 0.3143,0.6857 0.35602223496432212,0.64397776503567787 Region score:0.35; TSS score:0.46; Unmatched score:0.36; Average GERP:0.21363366336633663 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000888218; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000888220; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PTCSC2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000236130; TranscriptID:ENST00000649461; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002262 26621817 NONHSAT023343.2 rs11607499 T N/A 5,725 european ancestry colorectal carcinoma cases//2,212 european ancestry endometrial carcinoma cases//13,396 european ancestry controls EFO_0005842 N/A Associate Colorectal or endometrial cancer rs11607499-T of NONHSAT023343.2 is significantly associated with the colorectal or endometrial cancer by using GWAS analysis in 5,725 european ancestry colorectal carcinoma cases//2,212 european ancestry endometrial carcinoma cases//13,396 european ancestry controls(p-value = 2E-6 ;OR = 1.27). 0.4 Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1. genome-wide association analysis NONHSAT023343.2 lncRNA Colorectal cancer 0.33 GATCTGGCAA(T > C)CCTTCTCCTT chr11: 82100187 0.9299,0.07009 0.96185333843017329,0.03814666156982670 Region score:0.46; TSS score:0.08; Unmatched score:0.45; Average GERP:-0.05529702970297029 GeneName:MIR4300HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000245832; TranscriptID:ENST00000500502; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002263 24475105 miR-101 rs10974820 A N/A 1064 breast cancer cases and 1073 cancer-free controls EFO_0000305 N/A no significance for risk breast carcinoma rs10974820-A of hsa-mir-101-1 and its dysfunction is not significantly associated with Breast carcinoma by using case-control analysis in 1064 breast cancer cases and 1073 cancer-free controls -0.4 Genetic variations in the flanking regions of miR-101-2 are associated with increased risk of breast cancer. case-control analysis hsa-mir-101-1 miRNA Breast carcinoma -0.33 TATGTGTCAC(G > A)TACGAACTTC chr9: 4859872 0.9531,0.04692 0.96256211773700305,0.03743788226299694 Region score:0.26; TSS score:0.08; Unmatched score:0.16; Average GERP:-1.0468198019801984 GeneName:RCL1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000120158; TranscriptID:ENST00000381750; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002264 28397307 pre-miR-3135b rs4351242 T Dominant 16,144 advanced AMD cases and 17,832 controls EFO_0001365 N/A increasing risk age-related macular degeneration rs4351242-T of hsa-mir-3135b and its dysfunction is significantly associated with the increasing risk of Age-related macular degeneration by using case-control analysis in 16,144 advanced AMD cases and 17,832 controls 0.9 Genetic variants in microRNAs and their binding sites within gene 3'UTRs associate with susceptibility to age-related macular degeneration. case-control analysis hsa-mir-3135b miRNA Age-related macular degeneration 0.593 TGAGCTAGGA(C > T)TGACTGCACC chr6: 32749945 0.8906,0.1094 0.87485665137614678,0.12514334862385321 Region score:0.29; TSS score:0.14; Unmatched score:0.2; Average GERP:0.06909677419354826 GeneName:HLA-DQA2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000237541; TranscriptID:ENST00000374940; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3135B; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000263649; TranscriptID:ENST00000581098; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002265 23555923 hsa-mir-943 rs1077020 T N/a 191 patients with tnbc and 192 healthy female controls EFO_0005537 N/A No significance for risk Triple-negative breast cancer rs1077020-T of hsa-mir-943 and its dysfunction is not significantly associated with Triple-negative breast cancer by using case-control analysis in 191 patients with TNBC and 192 healthy female controls. -0.4 There is no association between microRNA gene polymorphisms and risk of triple negative breast cancer in a Chinese Han population. case-control analysis hsa-mir-943 miRNA Triple-negative breast cancer -0.33 CACCCCGAGC(T > C)CAGAACGTCC chr4: 1986466 0.7496,0.2504 0.72861716360856269,0.27138283639143730 Region score:0.38; TSS score:0.16; Unmatched score:0.51; Average GERP:-1.1319891089108913 GeneName:MIR943; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000284587; TranscriptID:ENST00000401286; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NELFA; CADD-Score:2; Consquence:intron; GeneID:ENSG00000185049; TranscriptID:ENST00000382882; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NSD2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000109685; TranscriptID:ENST00000382895; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002266 20228799 NONHSAT154192.1 rs10800309 A N/A 2,693 european ancestry cases//6,791 european ancestry controls; 2,009 european ancestry cases//1,580 european ancestry controls EFO_0000729 N/A Associate Ulcerative colitis rs10800309-A of NONHSAT154192.1 is significantly associated with the ulcerative colitis by using GWAS analysis in 2,693 european ancestry cases//6,791 european ancestry controls; 2,009 european ancestry cases//1,580 european ancestry controls(p-value = 3E-9 ;OR = 1.23). 0.4 Genome-wide association identifies multiple ulcerative colitis susceptibility loci. genome-wide association analysis NONHSAT154192.1 lncRNA Ulcerative colitis 0.451 CTGTTTCAAT(A > G,T)GTAAATCCCT chr1: 161502368 0.4391,0.5609,. 0.33866112385321100,0.65824891692150866,0.00308995922528032 Region score:0.44; TSS score:0.59; Unmatched score:0.44; Average GERP:-0.05181881188118816 GeneName:FCGR2A; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000143226; TranscriptID:ENST00000271450; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002266 26192919 NONHSAT154192.1 rs10800309 ? N/A 6,968 european ancestry cases//20,464 european ancestry controls; 10,679 european ancestry cases//26,715 european ancestry controls//397 iranian ancestry cases//342 iranian ancestry controls//1,239 indian ancestry cases//990 indian ancestry controls//1,134 east asian ancestry cases//3,719 east asian ancestry controls EFO_0000729 N/A Associate Ulcerative colitis rs10800309-? of NONHSAT154192.1 is significantly associated with the ulcerative colitis by using GWAS analysis in 6,968 european ancestry cases//20,464 european ancestry controls; 10,679 european ancestry cases//26,715 european ancestry controls//397 iranian ancestry cases//342 iranian ancestry controls//1,239 indian ancestry cases//990 indian ancestry controls//1,134 east asian ancestry cases//3,719 east asian ancestry controls(p-value = 4E-25 ;OR = ?). 0.4 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. genome-wide association analysis NONHSAT154192.1 lncRNA Ulcerative colitis 0.451 CTGTTTCAAT(A > G,T)GTAAATCCCT chr1: 161502368 0.4391,0.5609,. 0.33866112385321100,0.65824891692150866,0.00308995922528032 Region score:0.44; TSS score:0.59; Unmatched score:0.44; Average GERP:-0.05181881188118816 GeneName:FCGR2A; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000143226; TranscriptID:ENST00000271450; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002267 25673412 NONHSAT192305.1 rs1053593 T N/A up to 56,910 european ancestry men//up to 86,570 european ancestry women; up to 36,570 european ancestry men//30,172 european ancestry women//915 filipino ancestry men//735 filipino ancestry women//2,351 african american/afro-caribbean ancestry men//6,258 african american/afro-caribbean ancestry women//2,285 south asian ancestry men//506 south asian ancestry women//195 seychellois ancestry men//266 seychellois ancestry women EFO_0007788 N/A Associate Waist-to-hip ratio adjusted for body mass index rs1053593-T of NONHSAT192305.1 is significantly associated with the waist-to-hip ratio adjusted for body mass index by using GWAS analysis in up to 56,910 european ancestry men//up to 86,570 european ancestry women; up to 36,570 european ancestry men//30,172 european ancestry women//915 filipino ancestry men//735 filipino ancestry women//2,351 african american/afro-caribbean ancestry men//6,258 african american/afro-caribbean ancestry women//2,285 south asian ancestry men//506 south asian ancestry women//195 seychellois ancestry men//266 seychellois ancestry women(p-value = 8E-6 ;OR = 0.0206). 0.4 New genetic loci link adipose and insulin biology to body fat distribution. genome-wide association analysis NONHSAT192305.1 lncRNA Bmi-adjusted waist-hip ratio 0.33 GAGGATGGTG(G > C,T)CTCCCACAAA chr22: 35264882 0.5475,.,0.4525 0.51239965596330275,.,0.48760034403669724 Region score:0.43; TSS score:0.52; Unmatched score:0.75; Average GERP:2.852722475247523 GeneName:HMGXB4; CADD-Score:7; Consquence:missense; GeneID:ENSG00000100281; TranscriptID:ENST00000216106; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002268 19838195 NONHSAT154261.1 rs2205960 T N/A 1,310 european ancestry cases//7,859 european ancestry controls; 1,963 european ancestry cases//4,329 european ancestry controls EFO_0002690 N/A Associate Systemic lupus erythematosus rs2205960-T of NONHSAT154261.1 is significantly associated with the systemic lupus erythematosus by using GWAS analysis in 1,310 european ancestry cases//7,859 european ancestry controls; 1,963 european ancestry cases//4,329 european ancestry controls(p-value = 6E-9 ;OR = 1.22). 0.4 A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus. genome-wide association analysis NONHSAT154261.1 lncRNA Systemic lupus erythematosus 0.52 TCACCAAAAC(G > A,T)GTCTGAAATG chr1: 173222336 0.8191,.,0.1809 0.81785168195718654,0.00001592762487257,0.18213239041794087 Region score:0.39; TSS score:0.63; Unmatched score:0.33; Average GERP:2.2011683168316822 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002268 23273568 NONHSAT154261.1 rs2205960 T N/A 1,656 han chinese ancestry cases//3,394 han chinese ancestry controls; 3,256 han chinese ancestry cases//5,667 han chinese ancestry controls//453 thai ancestry cases//963 thai ancestry controls EFO_0002690 N/A Associate Systemic lupus erythematosus rs2205960-T of NONHSAT154261.1 is significantly associated with the systemic lupus erythematosus by using GWAS analysis in 1,656 han chinese ancestry cases//3,394 han chinese ancestry controls; 3,256 han chinese ancestry cases//5,667 han chinese ancestry controls//453 thai ancestry cases//963 thai ancestry controls(p-value = 3E-12 ;OR = 1.36). 0.4 Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians. genome-wide association analysis NONHSAT154261.1 lncRNA Systemic lupus erythematosus 0.52 TCACCAAAAC(G > A,T)GTCTGAAATG chr1: 173222336 0.8191,.,0.1809 0.81785168195718654,0.00001592762487257,0.18213239041794087 Region score:0.39; TSS score:0.63; Unmatched score:0.33; Average GERP:2.2011683168316822 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002268 19838193 NONHSAT154261.1 rs2205960 A N/A 1,047 han chinese ancestry cases//1,205 han chinese ancestry controls; 3,152 han chinese ancestry cases//7,050 han chinese ancestry controls EFO_0002690 N/A Associate Systemic lupus erythematosus rs2205960-A of NONHSAT154261.1 is significantly associated with the systemic lupus erythematosus by using GWAS analysis in 1,047 han chinese ancestry cases//1,205 han chinese ancestry controls; 3,152 han chinese ancestry cases//7,050 han chinese ancestry controls(p-value = 3E-32 ;OR = 1.46). 0.4 Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus. genome-wide association analysis NONHSAT154261.1 lncRNA Systemic lupus erythematosus 0.52 TCACCAAAAC(G > A,T)GTCTGAAATG chr1: 173222336 0.8191,.,0.1809 0.81785168195718654,0.00001592762487257,0.18213239041794087 Region score:0.39; TSS score:0.63; Unmatched score:0.33; Average GERP:2.2011683168316822 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002269 27989323 NONHSAT187243.1 rs6707510 G N/A 3,409 finnish ancestry individuals EFO_0005140 N/A Associate Interleukin-7 levels rs6707510-G of NONHSAT187243.1 is significantly associated with the interleukin-7 levels by using GWAS analysis in 3,409 finnish ancestry individuals(p-value = 9E-6 ;OR = 0.1328). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. genome-wide association analysis NONHSAT187243.1 lncRNA Autoimmune disease 0.33 GAGTCAAGGG(A > G,T)CAAGAGCCCC chr2: 100804390 0.3309,0.6691,. 0.32242291029561671,0.67553835372069317,0.00203873598369011 Region score:0.2; TSS score:0.24; Unmatched score:0.05; Average GERP:-0.490231683168317 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002270 26634245 NONHSAT159598.1 rs586701 T N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs586701-T of NONHSAT159598.1 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 7E-8 ;OR = 0.061). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT159598.1 lncRNA Pulmonary function measurement 0.33 TCTTTATTTA(T > G)TTCAGCCTAC chr11: 102853999 0.8059,0.1941 0.80364424057084607,0.19635575942915392 Region score:0.41; TSS score:0.47; Unmatched score:0.22; Average GERP:-0.22651386138613855 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002271 26805933 mir-499 rs3746444 G N/a 1378 idiopathic infertile males and 486 fertile controls in chinese han population Orphanet_399980 N/A No significance for risk Idiopathic male infertility rs3746444-G of mir-499 and its dysfunction is not significantly associated with idiopathic male infertility by using case-control analysis in 1378 idiopathic infertile males and 486 fertile controls in Chinese Han population. -0.4 Common SNP in hsa-miR-196a-2 increases hsa-miR-196a-5p expression and predisposes to idiopathic male infertility in Chinese Han population. case-control analysis hsa-mir-499a miRNA Rare genetic male infertility -0.33 CCACGTGAAC(A > G)TCACAGCAAG chr20: 34990448 0.8165,0.1835 0.81708715596330275,0.18291284403669724 Region score:0.79; TSS score:0.85; Unmatched score:0.95; Average GERP:3.757564356435645 GeneName:MIR499A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207635; TranscriptID:ENST00000384903; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR499B; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283441; TranscriptID:ENST00000636498; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYH7B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000078814; TranscriptID:ENST00000262873; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002272 27863252 NONHSAT167488.1 rs6563842 T N/A 171,771 european ancestry individuals EFO_0009389 N/A Associate Sum eosinophil basophil counts rs6563842-T of NONHSAT167488.1 is significantly associated with the sum eosinophil basophil counts by using GWAS analysis in 171,771 european ancestry individuals(p-value = 3E-13 ;OR = 0.0286538). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT167488.1 lncRNA Sum of eosinophil and basophil counts 0.33 GATTACAAAA(G > A,T)AAGTTTTTCT chr13: 40670160 0.493,.,0.507 0.57133186799184505,0.01909722222222222,0.40957090978593272 Region score:0.28; TSS score:0.32; Unmatched score:0.2; Average GERP:0.23614752475247516 GeneName:FOXO1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000150907; TranscriptID:ENST00000379561; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002273 23526039 miR-185 rs2008591 TT recessive 1,972 cases and 1,776 controls EFO_0000305 N/A decreasing risk breast carcinoma rs2008591-TT of hsa-mir-185 and its dysfunction is significantly associated with the decreasing risk of Breast carcinoma by using case-control analysis in 1,972 cases and 1,776 controls 0.4 Association of germline microRNA SNPs in pre-miRNA flanking region and breast cancer risk and survival: the Carolina Breast Cancer Study. case-control analysis hsa-mir-185 miRNA Breast carcinoma 0.33 CACCAACCCT(C > T)CTGTAGAGTT chr22: 20032706 0.6406,0.3594 0.59845661314984709,0.40154338685015290 Region score:0.3; TSS score:0.07; Unmatched score:0.19; Average GERP:-1.3361544554455445 GeneName:MIR185; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000208023; TranscriptID:ENST00000385288; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000666651; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TANGO2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000183597; TranscriptID:ENST00000456048; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002274 28928442 NONHSAT156047.1 rs142995252 ? N/A 31,227 european ancestry cases//54,153 european ancestry controls EFO_0008404 N/A Associate Mumps rs142995252-? of NONHSAT156047.1 is significantly associated with the mumps by using GWAS analysis in 31,227 european ancestry cases//54,153 european ancestry controls(p-value = 6E-6 ;OR = 0.9163). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. genome-wide association analysis NONHSAT156047.1 lncRNA Susceptibility to mumps measurement 0.33 ATTATGGCTT(A > C)ATCATCAGCT chr10: 105952980 0.9988,0.001198 0.99841520132517838,0.00158479867482161 Region score:0.54; TSS score:0.4; Unmatched score:0.18; Average GERP:-0.9607811881188122 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000414914; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002275 25108383 NONHSAT115361.2 rs10979 A N/A 1,006 european ancestry male child cases//2,390 european ancestry male child controls//3,096 european ancestry female child controls; 1,972 european ancestry male child cases//1,401 european ancestry male child controls//405 european ancestry female child controls//6 european ancestry child controls EFO_0004209 N/A Associate Hypospadias rs10979-A of NONHSAT115361.2 is significantly associated with the hypospadias by using GWAS analysis in 1,006 european ancestry male child cases//2,390 european ancestry male child controls//3,096 european ancestry female child controls; 1,972 european ancestry male child cases//1,401 european ancestry male child controls//405 european ancestry female child controls//6 european ancestry child controls(p-value = 1E-6 ;OR = 1.1943). 0.4 Genome-wide association analyses identify variants in developmental genes associated with hypospadias. genome-wide association analysis NONHSAT115361.2 lncRNA Hypospadias 0.33 CCACGGAATA(G > A)TAGATCAACA chr6: 143568902 0.4591,0.5409 0.39687659276248725,0.60312340723751274 Region score:0.25; TSS score:0.35; Unmatched score:0.22; Average GERP:-0.5044821782178218 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000808070; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PHACTR2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000112419; TranscriptID:ENST00000367584; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002276 24306027 miR-142-3p chr17:56408618 A Dominant 98 chronic lymphocytic leukemia patients(CLL), Additionally, the primary regions of miR-29b-2/29c and miR-16-1 were analyzed in another cohort of 213 and 193 CLL patients EFO_0000095 N/A increasing risk chronic lymphocytic leukemia chr17:56408618-A of hsa-mir-142 and its dysfunction is significantly associated with the increasing risk of Chronic lymphocytic leukemia by using case-control analysis in 98 chronic lymphocytic leukemia patients(CLL), Additionally, the primary regions of miR-29b-2/29c and miR-16-1 were analyzed in another cohort of 213 and 193 CLL patients 0.4 Identification of novel sequence variations in microRNAs in chronic lymphocytic leukemia. case-control analysis hsa-mir-142 miRNA Chronic lymphocytic leukemia 0.33 CATAAAGTAG(G > A)AAACACTACA chr17:56408618 - - - GeneName:MIR4736; CADD_Score:1; Consquence:downstream; GeneID:ENSG00000264399; TranscriptID:ENST00000581591; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:BZRAP1; CADD_Score:1; Consquence:upstream; GeneID:ENSG00000005379; TranscriptID:ENST00000343736; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR142; CADD_Score:5; Consquence:noncoding_change; GeneID:ENSG00000265206; TranscriptID:ENST00000579003; AnnoType:NonCodingTranscript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD_Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000283927; AnnoType:RegulatoryFeature; mirSVR-Score:NA; mirSVR-E:NA | GeneName:BZRAP1-AS1; CADD_Score:2; Consquence:intronic; GeneID:ENSG00000265148; TranscriptID:ENST00000579527; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002277 27863252 NONHSAT165172.1 rs77741769 T N/A 172,433 european ancestry individuals EFO_0004526 N/A Associate Mean corpuscular volume rs77741769-T of NONHSAT165172.1 is significantly associated with the mean corpuscular volume by using GWAS analysis in 172,433 european ancestry individuals(p-value = 1E-10 ;OR = 0.02403929). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT165172.1 lncRNA Mean corpuscular volume 0.33 GGTGACGCCC(C > T)TGCCCTACAG chr12: 120926032 0.6492,0.3508 0.67893890163098878,0.32106109836901121 Region score:0.27; TSS score:0.46; Unmatched score:0.4; Average GERP:0.5692464356435643 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000472082; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002278 20639881 NONHSAT159793.1 rs735665 T N/A 681 european ancestry cases//750 european ancestry controls; up to 3,164 european ancestry cases//6,208 european ancestry controls EFO_0000096 N/A Associate Follicular lymphoma rs735665-T of NONHSAT159793.1 is significantly associated with the follicular lymphoma by using GWAS analysis in 681 european ancestry cases//750 european ancestry controls; up to 3,164 european ancestry cases//6,208 european ancestry controls(p-value = 4E-9 ;OR = 1.81). 0.4 Genome-wide association study of follicular lymphoma identifies a risk locus at 6p21.32. genome-wide association analysis NONHSAT159793.1 lncRNA Neoplasm of mature b-cells 0.33 GTGAGAGAAG(G > A)GAGGTGTTCA chr11: 123490689 0.9006,0.09944 0.86138984454638124,0.13861015545361875 Region score:0.32; TSS score:0.32; Unmatched score:0.16; Average GERP:-0.529860396039604 GeneName:GRAMD1B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000023171; TranscriptID:ENST00000635736; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000445257; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002279 24390342 NONHSAT210486.1 rs2233424 T N/A up to 14,361 european ancestry cases//up to 42,923 european ancestry controls//up to 4,873 east asian ancestry cases//up to 17,642 east asian ancestry controls; up to 3,775 european ancestry cases//up to 5,801 european ancestry controls//up to 6,871 east asian ancestry cases//up to 6,392 east asian ancestry controls EFO_0000685 N/A Associate Rheumatoid arthritis rs2233424-T of NONHSAT210486.1 is significantly associated with the rheumatoid arthritis by using GWAS analysis in up to 14,361 european ancestry cases//up to 42,923 european ancestry controls//up to 4,873 east asian ancestry cases//up to 17,642 east asian ancestry controls; up to 3,775 european ancestry cases//up to 5,801 european ancestry controls//up to 6,871 east asian ancestry cases//up to 6,392 east asian ancestry controls(p-value = 3E-8 ;OR = 1.33). 0.4 Genetics of rheumatoid arthritis contributes to biology and drug discovery. genome-wide association analysis NONHSAT210486.1 lncRNA Rheumatoid arthritis 0.33 ATTAATTGTC(C > G,T)GTACAAGCTG chr6: 44266184 0.9331,.,0.06689 0.94465150356778797,0.00001592762487257,0.05533256880733944 Region score:0.49; TSS score:0.72; Unmatched score:0.85; Average GERP:-0.21098613861386142 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000197296; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NFKBIE; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000146232; TranscriptID:ENST00000275015; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TMEM151B; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000178233; TranscriptID:ENST00000451188; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002280 28928442 NONHSAT157712.1 rs1556659 ? N/A 60,098 european ancestry cases//113,323 european ancestry controls EFO_0007924 N/A Associate Tonsillectomy rs1556659-? of NONHSAT157712.1 is significantly associated with the tonsillectomy by using GWAS analysis in 60,098 european ancestry cases//113,323 european ancestry controls(p-value = 1E-6 ;OR = 0.0406). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. genome-wide association analysis NONHSAT157712.1 lncRNA Tonsillectomy risk measurement 0.33 TTCTCTCTCT(C > T)TTGGCCTCTT chr10: 129036434 0.7097,0.2903 0.66445272680937818,0.33554727319062181 Region score:0.32; TSS score:0.4; Unmatched score:0.2; Average GERP:-1.3382118811881192 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002281 29141248 HOTAIR rs4759314 G N/a 482 hepatocellular carcinoma cases and 520 control subjects in a chinese population EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs4759314-G of HOTAIR and its dysfunction is not significantly associated with hepatocellular carcinoma by using case-control analysis in 482 hepatocellular carcinoma cases and 520 control subjects in a chinese population. -0.4 Association of Functional Genetic Variants of HOTAIR with Hepatocellular Carcinoma (HCC) Susceptibility in a Chinese Population. case-control analysis HOTAIR lncRNA Hepatocellular cancer -0.33 AAACAGGCCA(G > A)GCGGATGCAA chr12: 53968051 0.09505,0.905 0.06856046126401630,0.93143953873598369 Region score:0.43; TSS score:0.68; Unmatched score:0.83; Average GERP:2.8445544554455457 GeneName:AC012531.4; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000274817; TranscriptID:ENST00000616509; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC012531.5; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277129; TranscriptID:ENST00000611375; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOTAIR; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000228630; TranscriptID:ENST00000424518; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000458643; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01905; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000275589; TranscriptID:ENST00000611210; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01906; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000277994; TranscriptID:ENST00000611352; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002282 25188341 NONHSAT099224.2 rs6835098 T N/A up to 3,887 cases//up to 1,027 controls EFO_0006801 N/A Associate Dementia and core alzheimer's disease neuropathologic changes rs6835098-T of NONHSAT099224.2 is significantly associated with the dementia and core alzheimer's disease neuropathologic changes by using GWAS analysis in up to 3,887 cases//up to 1,027 controls(p-value = 5E-6 ;OR = 0.2278). 0.4 Genome-wide association meta-analysis of neuropathologic features of Alzheimer's disease and related dementias. genome-wide association analysis NONHSAT099224.2 lncRNA Alzheimer's disease neuropathologic change 0.33 ACATCTCACC(T > C)GGGCCTTTCG chr4: 173168087 0.3594,0.6406 0.34617896279306829,0.65382103720693170 Region score:0.44; TSS score:0.38; Unmatched score:0.88; Average GERP:1.721326732673268 GeneName:AC105285.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000245213; TranscriptID:ENST00000500914; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GALNT7; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000109586; TranscriptID:ENST00000265000; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000176195; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000743464; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002283 28273873 NONHSAT154627.1 rs7554672 ? N/A 8,839 korean ancestry individuals. EFO_0000537 N/A Associate Hypertension rs7554672-? of NONHSAT154627.1 is significantly associated with the hypertension by using GWAS analysis in 8,839 korean ancestry individuals.(p-value = 2E-6 ;OR = 1.21). 0.4 Interaction between Single Nucleotide Polymorphism and Urinary Sodium, Potassium, and Sodium-Potassium Ratio on the Risk of Hypertension in Korean Adults.LID - E235 [pii]LID - 10.3390/nu9030235 [doi]AB - Hypertension is a complex disease explai genome-wide association analysis NONHSAT154627.1 lncRNA Hypertension 0.33 AGATGAGAGA(G > A)GAAGGAGGCT chr1: 221099816 0.6384,0.3616 0.70003504077471967,0.29996495922528032 Region score:0.37; TSS score:0.32; Unmatched score:0.18; Average GERP:-0.9719491089108914 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002284 27989323 NONHSAT205189.1 rs116383510 C N/A 3,636 finnish ancestry individuals EFO_0005140 N/A Associate Interleukin-18 levels rs116383510-C of NONHSAT205189.1 is significantly associated with the interleukin-18 levels by using GWAS analysis in 3,636 finnish ancestry individuals(p-value = 3E-7 ;OR = 0.5426). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. genome-wide association analysis NONHSAT205189.1 lncRNA Autoimmune disease 0.33 ACAAAAGAAG(A > C)GAGTCACTCC chr5: 2545536 0.9934,0.006589 0.99135926350662589,0.00864073649337410 Region score:0.31; TSS score:0.36; Unmatched score:0.19; Average GERP:-1.3534138613861382 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002285 25918132 NONHSAT182785.1 rs1257344 ? N/A 74 european ancestry cases//824 european ancestry controls EFO_0000270 N/A Associate Diisocyanate-induced asthma rs1257344-? of NONHSAT182785.1 is significantly associated with the diisocyanate-induced asthma by using GWAS analysis in 74 european ancestry cases//824 european ancestry controls(p-value = 3E-6 ;OR = 2.3255813). 0.4 Genome-Wide Association Study Identifies Novel Loci Associated With Diisocyanate-Induced Occupational Asthma. genome-wide association analysis NONHSAT182785.1 lncRNA Asthma 0.33 TTACCATTTT(A > G)CCAATGGATT chr2: 143840863 0.348,0.652 0.38473177879714576,0.61526822120285423 Region score:0.42; TSS score:0.58; Unmatched score:0.28; Average GERP:3.9047660396039565 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002286 19197348 NONHSAT160789.1 rs7396835 T N/A 2,906 kosraen individuals EFO_0004530 N/A Associate Quantitative traits rs7396835-T of NONHSAT160789.1 is significantly associated with the quantitative traits by using GWAS analysis in 2,906 kosraen individuals(p-value = 1E-9 ;OR = 0.23). 0.4 Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae. genome-wide association analysis NONHSAT160789.1 lncRNA Triglyceride measurement 0.33 GCTAGCTGTT(T > A,C,G)GGAAGGGGCT chr11: 116813312 0.2414,.,0.7586,. 0.13783766564729867,0.00762136850152905,0.85144304281345565,0.00309792303771661 Region score:0.53; TSS score:0.22; Unmatched score:0.68; Average GERP:0.06706138613861386 GeneName:AP006216.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000236267; TranscriptID:ENST00000457746; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002287 21909115 NONHSAT108210.2 rs1799945 G N/A 69,395 european ancestry individuals; up to 133,361 european ancestry individuals EFO_0000537 N/A Associate Hypertension rs1799945-G of NONHSAT108210.2 is significantly associated with the hypertension by using GWAS analysis in 69,395 european ancestry individuals; up to 133,361 european ancestry individuals(p-value = 2E-10 ;OR = 0.095). 0.4 Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. genome-wide association analysis NONHSAT108210.2 lncRNA Hypertension 0.33 GTTCTATGAT(C > G)ATGAGAGTCG chr6: 26090951 0.9269,0.07308 0.89884365443425076,0.10115634556574923 Region score:0.3; TSS score:0.25; Unmatched score:0.49; Average GERP:0.6539455445544557 GeneName:HFE; CADD-Score:7; Consquence:missense; GeneID:ENSG00000010704; TranscriptID:ENST00000357618; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002288 28448500 NONHSAT176298.1 rs1808192 ? N/A 561 african american women//352 filipino ancestry women//725 indian ancestry women//19,366 european ancestry women//251 african american men//4,654 indian ancestry men//11,727 european ancestry men//959 european ancestry individuals; 1,437 african american women//5,184 european ancestry women//64 african american men//5,416 european ancestry men EFO_0001073 joint analysis main effects and physical activity interaction Associate Body mass index (joint analysis main effects and physical activity interaction) rs1808192-? of NONHSAT176298.1 is significantly associated with the body mass index (joint analysis main effects and physical activity interaction) by using GWAS analysis in 561 african american women//352 filipino ancestry women//725 indian ancestry women//19,366 european ancestry women//251 african american men//4,654 indian ancestry men//11,727 european ancestry men//959 european ancestry individuals; 1,437 african american women//5,184 european ancestry women//64 african american men//5,416 european ancestry men(p-value = 3E-9 ;OR = ?). 0.4 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. genome-wide association analysis NONHSAT176298.1 lncRNA Obesity 0.451 GAGGCAGGGG(A > G)CCATGTCACT chr17: 47717340 0.3177,0.6823 0.29696260193679918,0.70303739806320081 Region score:0.52; TSS score:0.51; Unmatched score:0.34; Average GERP:-1.2039049504950494 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000283595; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002288 28448500 NONHSAT176298.1 rs1808192 A N/A 561 african american women//352 filipino ancestry women//725 indian ancestry women//19,366 european ancestry women//251 african american men//4,654 indian ancestry men//11,727 european ancestry men//959 european ancestry individuals; 1,437 african american women//5,184 european ancestry women//64 african american men//5,416 european ancestry men EFO_0001073 joint analysis main effects and physical activity interaction Associate Body mass index rs1808192-A of NONHSAT176298.1 is significantly associated with the body mass index by using GWAS analysis in 561 african american women//352 filipino ancestry women//725 indian ancestry women//19,366 european ancestry women//251 african american men//4,654 indian ancestry men//11,727 european ancestry men//959 european ancestry individuals; 1,437 african american women//5,184 european ancestry women//64 african american men//5,416 european ancestry men(p-value = 2E-8 ;OR = 0.0227). 0.4 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. genome-wide association analysis NONHSAT176298.1 lncRNA Obesity 0.451 GAGGCAGGGG(A > G)CCATGTCACT chr17: 47717340 0.3177,0.6823 0.29696260193679918,0.70303739806320081 Region score:0.52; TSS score:0.51; Unmatched score:0.34; Average GERP:-1.2039049504950494 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000283595; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002289 22778062 SNORD115-10 rs72546379 A N/A N/A function N/A not significant changes in the structure function rs72546379-A of SNORD115-10 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in nan -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD115-10 snoRNA function -0.049 CTGAAGAGAG(G > A,T)TGATGACTTA chr15: 25187573 0 0.99923547400611620,0.00075656218144750,0.00000796381243628 Region score:0.31; TSS score:0.02; Unmatched score:0.37; Average GERP:0.10606732673267316 GeneName:SNHG14; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000224078; TranscriptID:ENST00000414175; AnnoType:UPSTREAM; mirSVR-Score:-0.6864; mirSVR-E:-18.01 | GeneName:SNORD115-10; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000201943; TranscriptID:ENST00000365073; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.6864; mirSVR-E:-18.01 | GeneName:SNORD115-11; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000200486; TranscriptID:ENST00000363616; AnnoType:UPSTREAM; mirSVR-Score:-0.6864; mirSVR-E:-18.01 | GeneName:SNORD115-12; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000199453; TranscriptID:ENST00000362583; AnnoType:UPSTREAM; mirSVR-Score:-0.6864; mirSVR-E:-18.01 | GeneName:SNORD115-8; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000200726; TranscriptID:ENST00000363856; AnnoType:DOWNSTREAM; mirSVR-Score:-0.6864; mirSVR-E:-18.01 | GeneName:SNORD115-9; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000199782; TranscriptID:ENST00000362912; AnnoType:DOWNSTREAM; mirSVR-Score:-0.6864; mirSVR-E:-18.01 | NCRV0000002290 24068947 NONHSAT174496.1 rs2962462 ? N/A 728 european ancestry individuals with reading disability EFO_0003889 N/A Associate Relative hand skill in reading disability rs2962462-? of NONHSAT174496.1 is significantly associated with the relative hand skill in reading disability by using GWAS analysis in 728 european ancestry individuals with reading disability(p-value = 2E-6 ;OR = 0.29). 0.4 Common variants in left/right asymmetry genes and pathways are associated with relative hand skill. genome-wide association analysis NONHSAT174496.1 lncRNA Functional laterality 0.33 TAAGAAATAT(G > T)TTCAGAAATA chr16: 62764948 0.2574,0.7426 0.23452631243628950,0.76547368756371049 Region score:0.23; TSS score:0.18; Unmatched score:0.05; Average GERP:-0.6085793069306931 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002291 25188341 NONHSAT171318.1 rs28479400 G N/A up to 4,232 individuals EFO_0006798 N/A Associate Neuritic plaque rs28479400-G of NONHSAT171318.1 is significantly associated with the neuritic plaque by using GWAS analysis in up to 4,232 individuals(p-value = 2E-6 ;OR = 0.7864). 0.4 Genome-wide association meta-analysis of neuropathologic features of Alzheimer's disease and related dementias. genome-wide association analysis NONHSAT171318.1 lncRNA Neuritic plaque measurement 0.33 TCATGATGCT(A > G,T)TCCTTGACTC chr15: 99455679 0.9301,0.06989,. 0.92682849133537206,0.07311576197757390,0.00005574668705402 Region score:0.41; TSS score:0.42; Unmatched score:0.44; Average GERP:-1.268118811881188 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002292 22778062 SNORD115-15 rs72546352 C N/a N/a function N/A Not significant changes in the structure Function rs72546352-C of SNORD115-15 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD115-15 snoRNA Function -0.049 GTTCTGAAGA(G > A,C)AGGTGATGAC chr15: 25197610 0.9998,.,0.0001997 0.99992036187563710,.,0.00007963812436289 Region score:0.39; TSS score:0; Unmatched score:0.44; Average GERP:0.01488217821782178 GeneName:SNHG14; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000224078; TranscriptID:ENST00000424333; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORD115-13; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000273835; TranscriptID:ENST00000363358; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORD115-14; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000199960; TranscriptID:ENST00000363090; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORD115-15; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000201679; TranscriptID:ENST00000364809; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORD115-16; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000200757; TranscriptID:ENST00000363887; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORD115-17; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000201482; TranscriptID:ENST00000364612; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002293 27863252 NONHSAT115062.2 rs6920211 C N/A 171,771 european ancestry individuals EFO_0009389 N/A Associate Sum eosinophil basophil counts rs6920211-C of NONHSAT115062.2 is significantly associated with the sum eosinophil basophil counts by using GWAS analysis in 171,771 european ancestry individuals(p-value = 2E-16 ;OR = 0.03382095). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT115062.2 lncRNA Sum of eosinophil and basophil counts 0.33 GATGCTGCAT(T > C)GAATTCTGAT chr6: 135110180 0.7296,0.2704 0.71090564475025484,0.28909435524974515 Region score:0.32; TSS score:0.35; Unmatched score:0.22; Average GERP:-1.0286435643564358 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000806351; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002294 26634245 NONHSAT198812.1 rs2869967 T N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs2869967-T of NONHSAT198812.1 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 1E-10 ;OR = 0.057). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT198812.1 lncRNA Pulmonary function measurement 0.52 CTGGAAGGGT(T > C)AAGGGATGTA chr4: 88948181 0.4996,0.5004 0.50852127930682976,0.49147872069317023 Region score:0.29; TSS score:0.36; Unmatched score:0.16; Average GERP:-0.015185148514851485 GeneName:FAM13A; CADD-Score:2; Consquence:intron; GeneID:ENSG00000138640; TranscriptID:ENST00000264344; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002294 20010835 NONHSAT198812.1 rs2869967 T N/A 20,890 european ancestry individuals; 16,178 european ancestry individuals EFO_0003892 N/A Associate Pulmonary function rs2869967-T of NONHSAT198812.1 is significantly associated with the pulmonary function by using GWAS analysis in 20,890 european ancestry individuals; 16,178 european ancestry individuals(p-value = 1E-7 ;OR = 0.3). 0.4 Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function. genome-wide association analysis NONHSAT198812.1 lncRNA Pulmonary function measurement 0.52 CTGGAAGGGT(T > C)AAGGGATGTA chr4: 88948181 0.4996,0.5004 0.50852127930682976,0.49147872069317023 Region score:0.29; TSS score:0.36; Unmatched score:0.16; Average GERP:-0.015185148514851485 GeneName:FAM13A; CADD-Score:2; Consquence:intron; GeneID:ENSG00000138640; TranscriptID:ENST00000264344; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002294 23284291 NONHSAT198812.1 rs2869967 ? N/A 50,047 european ancestry individuals EFO_0003892 smoking interaction Associate Pulmonary function (smoking interaction) rs2869967-? of NONHSAT198812.1 is significantly associated with the pulmonary function (smoking interaction) by using GWAS analysis in 50,047 european ancestry individuals(p-value = 5E-11 ;OR = ?). 0.4 Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function. genome-wide association analysis NONHSAT198812.1 lncRNA Pulmonary function measurement 0.52 CTGGAAGGGT(T > C)AAGGGATGTA chr4: 88948181 0.4996,0.5004 0.50852127930682976,0.49147872069317023 Region score:0.29; TSS score:0.36; Unmatched score:0.16; Average GERP:-0.015185148514851485 GeneName:FAM13A; CADD-Score:2; Consquence:intron; GeneID:ENSG00000138640; TranscriptID:ENST00000264344; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002295 26053186 NONHSAT167710.1 rs139612726 ? N/A 362 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//438 european ancestry current smoker individuals//449 latino current smoker individuals//704 japanese ancestry current smoker individuals EFO_0001071 in smokers Associate 3-hydroxypropylmercapturic acid levels in smokers rs139612726-? of NONHSAT167710.1 is significantly associated with the 3-hydroxypropylmercapturic acid levels in smokers by using GWAS analysis in 362 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//438 european ancestry current smoker individuals//449 latino current smoker individuals//704 japanese ancestry current smoker individuals(p-value = 8E-8 ;OR = 0.8006). 0.4 Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer. genome-wide association analysis NONHSAT167710.1 lncRNA Lung cancer 0.33 GATATTTGCT(A > G)ATAAGTCTTT chr13: 70783858 0.98,0.01997 0.98184250764525993,0.01815749235474006 Region score:0.28; TSS score:0.17; Unmatched score:0.03; Average GERP:0.500559405940594 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002296 24978643 MIR196A2 rs11614913 C Recessive 350 esrd patients and 350 age-matched, sex-matched, and ethnically matched controls. EFO_0003086 N/A Increasing risk End-stage renal disease rs11614913-C of MIR196A2 and its dysfunction is significantly associated with the increasing risk of end-stage renal disease by using case-control analysis in 350 ESRD patients and 350 age-matched, sex-matched, and ethnically matched controls 0.4 Genetic variants of MicroRNA-related genes in susceptibility and prognosis of end-stage renal disease and renal allograft outcome among north Indians. case-control analysis hsa-mir-196a-2 miRNA Kidney disease 0.33 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002297 25740697 piR-015551 rs11776042 C Dominant 1147 patients with crc (cases) and 1203 cancer漏free individuals EFO_0005842 N/A Decreasing risk Colorectal cancer rs11776042-C of piR-015551 and its dysfunction is significantly associated with the decreasing risk of colorectal cancer by using case-control analysis in 1147 patients with CRC (cases) and 1203 cancer漏free individuals . 0.4 Genetic variants in noncoding PIWI-interacting RNA and colorectal cancer risk. case-control analysis piR-015551 piRNA Colorectal cancer 0.33 TGGCTCAGGG(A > G)CGGTGTGTAG chr8: 124929255 0.5389,0.4611 0.48754459734964322,0.51245540265035677 Region score:0.25; TSS score:0.27; Unmatched score:0.14; Average GERP:-0.38931683168316844 GeneName:LINC00964; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000249816; TranscriptID:ENST00000528090; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002298 23222517 NONHSAT201217.1 rs218238 A N/A 62,553 european ancestry individuals//9,308 south asian ancestry individuals; 63,506 european ancestry individuals EFO_0004305 N/A Associate Red blood cell traits rs218238-A of NONHSAT201217.1 is significantly associated with the red blood cell traits by using GWAS analysis in 62,553 european ancestry individuals//9,308 south asian ancestry individuals; 63,506 european ancestry individuals(p-value = 3E-39 ;OR = 0.033). 0.4 Seventy-five genetic loci influencing the human red blood cell. genome-wide association analysis NONHSAT201217.1 lncRNA Erythrocyte count 0.451 TTCTCTAATA(A > T)TCCCAGAGTC chr4: 54528857 0.5681,0.4319 0.60961391437308868,0.39038608562691131 Region score:0.33; TSS score:0.1; Unmatched score:0; Average GERP:-0.3333089108910891 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002298 28017375 NONHSAT201217.1 rs218238 ? N/A up to 40,258 european ancestry individuals//up to 16,128 african american individuals//up to 15,252 east asian individuals.; 16,389 individuals of european and african american ancestry. EFO_0004305 N/A Associate Red blood cell count rs218238-? of NONHSAT201217.1 is significantly associated with the red blood cell count by using GWAS analysis in up to 40,258 european ancestry individuals//up to 16,128 african american individuals//up to 15,252 east asian individuals.; 16,389 individuals of european and african american ancestry.(p-value = 2E-28 ;OR = ?). 0.4 Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis. genome-wide association analysis NONHSAT201217.1 lncRNA Erythrocyte count 0.451 TTCTCTAATA(A > T)TCCCAGAGTC chr4: 54528857 0.5681,0.4319 0.60961391437308868,0.39038608562691131 Region score:0.33; TSS score:0.1; Unmatched score:0; Average GERP:-0.3333089108910891 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002299 27494321 NONHSAT185367.1 rs62158211 G N/A 127,573 british individuals; 47,180 individuals EFO_0008568 N/A Associate Sleep duration rs62158211-G of NONHSAT185367.1 is significantly associated with the sleep duration by using GWAS analysis in 127,573 british individuals; 47,180 individuals(p-value = 2E-23 ;OR = 0.039). 0.4 Genome-Wide Association Analyses in 128,266 Individuals Identifies New Morningness and Sleep Duration Loci. genome-wide association analysis NONHSAT185367.1 lncRNA Sleep disorder 0.599 GGATTAATGG(G > T)TGGAGTATTG chr2: 113348562 0.8482,0.1518 0.82875414118246687,0.17124585881753312 Region score:0.49; TSS score:0.4; Unmatched score:0.09; Average GERP:-0.6585821782178218 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002299 27494321 NONHSAT185367.1 rs62158211 T N/A 127,573 british individuals; 47,180 individuals EFO_0008568 N/A Associate Sleep duration (oversleepers vs undersleepers) rs62158211-T of NONHSAT185367.1 is significantly associated with the sleep duration (oversleepers vs undersleepers) by using GWAS analysis in 127,573 british individuals; 47,180 individuals(p-value = 1E-7 ;OR = 1.0638298). 0.4 Genome-Wide Association Analyses in 128,266 Individuals Identifies New Morningness and Sleep Duration Loci. genome-wide association analysis NONHSAT185367.1 lncRNA Sleep disorder 0.599 GGATTAATGG(G > T)TGGAGTATTG chr2: 113348562 0.8482,0.1518 0.82875414118246687,0.17124585881753312 Region score:0.49; TSS score:0.4; Unmatched score:0.09; Average GERP:-0.6585821782178218 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002299 27992416 NONHSAT185367.1 rs62158211 T N/A 111,975 european ancestry individuals EFO_0008568 N/A Associate Sleep duration rs62158211-T of NONHSAT185367.1 is significantly associated with the sleep duration by using GWAS analysis in 111,975 european ancestry individuals(p-value = 5E-14 ;OR = 0.039). 0.4 Genome-wide association analyses of sleep disturbance traits identify new loci and highlight shared genetics with neuropsychiatric and metabolic traits. genome-wide association analysis NONHSAT185367.1 lncRNA Sleep disorder 0.599 GGATTAATGG(G > T)TGGAGTATTG chr2: 113348562 0.8482,0.1518 0.82875414118246687,0.17124585881753312 Region score:0.49; TSS score:0.4; Unmatched score:0.09; Average GERP:-0.6585821782178218 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002299 28604731 NONHSAT185367.1 rs62158211 T N/A 112,411 european ancestry male individuals EFO_0008568 N/A Associate Sleep duration rs62158211-T of NONHSAT185367.1 is significantly associated with the sleep duration by using GWAS analysis in 112,411 european ancestry male individuals(p-value = 1E-12 ;OR = 0.037). 0.4 Genome-wide association analysis of insomnia complaints identifies risk genes and genetic overlap with psychiatric and metabolic traits. genome-wide association analysis NONHSAT185367.1 lncRNA Sleep disorder 0.599 GGATTAATGG(G > T)TGGAGTATTG chr2: 113348562 0.8482,0.1518 0.82875414118246687,0.17124585881753312 Region score:0.49; TSS score:0.4; Unmatched score:0.09; Average GERP:-0.6585821782178218 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002299 27992416 NONHSAT185367.1 rs62158211 ? N/A at least 112,586 european ancestry individuals EFO_0008568 N/A Associate Sleep traits (multi-trait analysis) rs62158211-? of NONHSAT185367.1 is significantly associated with the sleep traits (multi-trait analysis) by using GWAS analysis in at least 112,586 european ancestry individuals(p-value = 8E-13 ;OR = ?). 0.4 Genome-wide association analyses of sleep disturbance traits identify new loci and highlight shared genetics with neuropsychiatric and metabolic traits. genome-wide association analysis NONHSAT185367.1 lncRNA Sleep disorder 0.599 GGATTAATGG(G > T)TGGAGTATTG chr2: 113348562 0.8482,0.1518 0.82875414118246687,0.17124585881753312 Region score:0.49; TSS score:0.4; Unmatched score:0.09; Average GERP:-0.6585821782178218 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002300 26634245 NONHSAT210312.1 rs181783266 T N/A 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio in copd rs181783266-T of NONHSAT210312.1 is significantly associated with the post bronchodilator fev1/fvc ratio in copd by using GWAS analysis in 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases(p-value = 9E-7 ;OR = 0.207). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT210312.1 lncRNA Pulmonary function measurement 0.33 CATGCACGCG(C > T)GTGTGTGTGA chr6: 20030374 0.9996,0.0003994 0.99960977319062181,0.00039022680937818 Region score:0.4; TSS score:0.25; Unmatched score:0.1; Average GERP:-0.5642404123711342 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002301 26586795 NONHSAT178495.1 rs1442089 C N/A up to 462 european ancestry cases; up to 435 european ancestry cases EFO_0005842 N/A Associate Survival in colorectal cancer (distant metastatic) rs1442089-C of NONHSAT178495.1 is significantly associated with the survival in colorectal cancer (distant metastatic) by using GWAS analysis in up to 462 european ancestry cases; up to 435 european ancestry cases(p-value = 2E-6 ;OR = 1.56). 0.4 Common genetic variation and survival after colorectal cancer diagnosis: a genome-wide analysis. genome-wide association analysis NONHSAT178495.1 lncRNA Colorectal cancer 0.33 TTGAAATCAC(C > A,G)AAGGCCACTG chr18: 53580709 0.1761,0.8239,. 0.16743915647298674,0.83137423547400611,0.00118660805300713 Region score:0.26; TSS score:0.16; Unmatched score:0.32; Average GERP:0.04969002970297021 GeneName:LINC01917; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000260433; TranscriptID:ENST00000565170; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LINC01919; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000263438; TranscriptID:ENST00000581198; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002302 27863252 NONHSAT221416.1 rs149037075 T N/A 172,332 european ancestry individuals EFO_0004527 N/A Associate Mean corpuscular hemoglobin rs149037075-T of NONHSAT221416.1 is significantly associated with the mean corpuscular hemoglobin by using GWAS analysis in 172,332 european ancestry individuals(p-value = 3E-20 ;OR = 0.06772414). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT221416.1 lncRNA Mean corpuscular hemoglobin 0.33 GTGTGTGTCT(TTCTG > T)TCTGTGTGTG chr9: 133255468 0.8484,0.1516 0.89506880733944954,0.10493119266055045 N/A GeneName:ABO; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000175164; TranscriptID:ENST00000538324; AnnoType:DOWNSTREAM; mirSVR-Score:-0.3983; mirSVR-E:-14.96 | NCRV0000002303 22359512 NONHSAT034336.2 rs17718828 ? N/A 4,034 european ancestry individuals EFO_0004639 N/A Associate Phospholipid levels (plasma) rs17718828-? of NONHSAT034336.2 is significantly associated with the phospholipid levels (plasma) by using GWAS analysis in 4,034 european ancestry individuals(p-value = 1E-8 ;OR = 0.8). 0.4 Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations. genome-wide association analysis NONHSAT034336.2 lncRNA Phospholipid measurement 0.33 TGTGGATATG(C > T)ACCCTGAAAA chr13: 74553977 0.9431,0.05691 0.91677816004077471,0.08322183995922528 Region score:0.26; TSS score:0.27; Unmatched score:0.32; Average GERP:-0.6858041584158417 GeneName:AL355390.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000281167; TranscriptID:ENST00000446691; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LINC00347; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000236678; TranscriptID:ENST00000594461; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002304 19303062 NONHSAT148498.1 rs4654748 C N/A 2,934 european ancestry individuals; 686 european ancestry individuals EFO_0004621 N/A Associate Folate pathway vitamin levels rs4654748-C of NONHSAT148498.1 is significantly associated with the folate pathway vitamin levels by using GWAS analysis in 2,934 european ancestry individuals; 686 european ancestry individuals(p-value = 8E-18 ;OR = 1.45). 0.4 Genome-wide association study of vitamin B6, vitamin B12, folate, and homocysteine blood concentrations. genome-wide association analysis NONHSAT148498.1 lncRNA Vitamin b6 measurement 0.451 GGGTAATGTC(C > T)CCCAAAATTA chr1: 21459575 0.6246,0.3754 0.61975981141692150,0.38024018858307849 Region score:0.31; TSS score:0.1; Unmatched score:0.44; Average GERP:0.06616145833333337 GeneName:NBPF3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000142794; TranscriptID:ENST00000318249; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PFN1P10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000176378; TranscriptID:ENST00000455962; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002304 19744961 NONHSAT148498.1 rs4654748 ? N/A 3,305 european ancestry females//1,458 european ancestry males EFO_0004621 N/A Associate Folate pathway vitamin levels rs4654748-? of NONHSAT148498.1 is significantly associated with the folate pathway vitamin levels by using GWAS analysis in 3,305 european ancestry females//1,458 european ancestry males(p-value = 4E-11 ;OR = 0.1). 0.4 Genome-wide significant predictors of metabolites in the one-carbon metabolism pathway. genome-wide association analysis NONHSAT148498.1 lncRNA Vitamin b6 measurement 0.451 GGGTAATGTC(C > T)CCCAAAATTA chr1: 21459575 0.6246,0.3754 0.61975981141692150,0.38024018858307849 Region score:0.31; TSS score:0.1; Unmatched score:0.44; Average GERP:0.06616145833333337 GeneName:NBPF3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000142794; TranscriptID:ENST00000318249; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PFN1P10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000176378; TranscriptID:ENST00000455962; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002305 25918132 NONHSAT177563.1 rs78788148 A N/A 74 european ancestry cases//824 european ancestry controls EFO_0000270 N/A Associate Diisocyanate-induced asthma rs78788148-A of NONHSAT177563.1 is significantly associated with the diisocyanate-induced asthma by using GWAS analysis in 74 european ancestry cases//824 european ancestry controls(p-value = 2E-6 ;OR = 15.23). 0.4 Genome-Wide Association Study Identifies Novel Loci Associated With Diisocyanate-Induced Occupational Asthma. genome-wide association analysis NONHSAT177563.1 lncRNA Asthma 0.33 TTTATCAAGA(G > A)ATACAGAAGA chr18: 27286085 0.9381,0.0619 0.96495922528032619,0.03504077471967380 Region score:0.39; TSS score:0.22; Unmatched score:0.02; Average GERP:-0.4522970297029703 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002306 28928442 NONHSAT121567.2 rs79911532 ? N/A 17,457 european ancestry cases//68,446 european ancestry controls EFO_0008403 N/A Associate Mononucleosis rs79911532-? of NONHSAT121567.2 is significantly associated with the mononucleosis by using GWAS analysis in 17,457 european ancestry cases//68,446 european ancestry controls(p-value = 6E-6 ;OR = 0.1223). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. genome-wide association analysis NONHSAT121567.2 lncRNA Susceptibility to mononucleosis measurement 0.33 CCAAAAAGGC(C > T)GATGGGAGGC chr7: 76073701 0.982,0.01797 0.96287270642201834,0.03712729357798165 Region score:0.29; TSS score:0.24; Unmatched score:0.35; Average GERP:-0.27210891089108885 GeneName:AC005077.4; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000230882; TranscriptID:ENST00000421546; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000828896; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000828897; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002307 28604730 NONHSAT176539.1 rs17181550 T N/A 11,273 european ancestry cases// 55,483 european ancestry controls EFO_0000571 N/A Associate Lung adenocarcinoma rs17181550-T of NONHSAT176539.1 is significantly associated with the lung adenocarcinoma by using GWAS analysis in 11,273 european ancestry cases// 55,483 european ancestry controls(p-value = 3E-6 ;OR = 1.0797197). 0.4 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. genome-wide association analysis NONHSAT176539.1 lncRNA Lung adenocancer 0.33 AATCGGACCA(T > G)AATACCATGA chr17: 72303817 0.604,0.396 0.61672559887869520,0.38327440112130479 Region score:0.27; TSS score:0.23; Unmatched score:0.07; Average GERP:-0.910228712871287 GeneName:LINC00511; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000227036; TranscriptID:ENST00000648631; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002308 26053186 NONHSAT181811.1 rs74760234 ? N/A 361 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//440 european ancestry current smoker individuals//452 latino current smoker individuals//702 japanese ancestry current smoker individuals EFO_0001071 in smokers Associate 3-hydroxy-1-methylpropylmercapturic acid levels in smokers rs74760234-? of NONHSAT181811.1 is significantly associated with the 3-hydroxy-1-methylpropylmercapturic acid levels in smokers by using GWAS analysis in 361 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//440 european ancestry current smoker individuals//452 latino current smoker individuals//702 japanese ancestry current smoker individuals(p-value = 4E-7 ;OR = 1.2083). 0.4 Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer. genome-wide association analysis NONHSAT181811.1 lncRNA Lung cancer 0.33 ATAGACACTG(C > G,T)GGACTATTAG chr2: 55798738 0.9511,.,0.04892 0.96188519367991845,.,0.03811480632008154 Region score:0.23; TSS score:0.08; Unmatched score:0.01; Average GERP:0.07857425742574263 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002309 29210060 NONHSAT198719.1 rs17248137 G N/A 523 european ancestry individuals; 109 brazilian ancestry individuals EFO_0000637 N/A Associate Overall survival in osteosarcoma rs17248137-G of NONHSAT198719.1 is significantly associated with the overall survival in osteosarcoma by using GWAS analysis in 523 european ancestry individuals; 109 brazilian ancestry individuals(p-value = 2E-6 ;OR = 2.14). 0.4 Genome-wide association study identifies the GLDC/IL33 locus associated with survival of osteosarcoma patients. genome-wide association analysis NONHSAT198719.1 lncRNA Osteosarcoma 0.33 GATTGCTGTC(A > G)TCGGATGATA chr4: 74883331 0.9467,0.05331 0.92084766819571865,0.07915233180428134 Region score:0.38; TSS score:0.15; Unmatched score:0.01; Average GERP:-0.3305871287128713 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002310 21909115 NONHSAT108210.2 rs1799945 G N/A 69,395 european ancestry individuals; up to 133,361 european ancestry individuals EFO_0006336 N/A Associate Diastolic blood pressure rs1799945-G of NONHSAT108210.2 is significantly associated with the diastolic blood pressure by using GWAS analysis in 69,395 european ancestry individuals; up to 133,361 european ancestry individuals(p-value = 2E-15 ;OR = 0.457). 0.4 Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. genome-wide association analysis NONHSAT108210.2 lncRNA Diastolic blood pressure 0.451 GTTCTATGAT(C > G)ATGAGAGTCG chr6: 26090951 0.9269,0.07308 0.89884365443425076,0.10115634556574923 Region score:0.3; TSS score:0.25; Unmatched score:0.49; Average GERP:0.6539455445544557 GeneName:HFE; CADD-Score:7; Consquence:missense; GeneID:ENSG00000010704; TranscriptID:ENST00000357618; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002310 28739976 NONHSAT108210.2 rs1799945 G N/A 150,134 european ancestry individuals; 87,359 european ancestry individuals//140,886 european and unknown ancestry individuals EFO_0006336 N/A Associate Diastolic blood pressure rs1799945-G of NONHSAT108210.2 is significantly associated with the diastolic blood pressure by using GWAS analysis in 150,134 european ancestry individuals; 87,359 european ancestry individuals//140,886 european and unknown ancestry individuals(p-value = 9E-14 ;OR = 0.465). 0.4 Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.LID - HYPERTENSIONAHA.117.09438 [pii]LID - 10.1161/HYPERTENSIONAHA.117.09438 [doi]AB - Elevated blood pressure genome-wide association analysis NONHSAT108210.2 lncRNA Diastolic blood pressure 0.451 GTTCTATGAT(C > G)ATGAGAGTCG chr6: 26090951 0.9269,0.07308 0.89884365443425076,0.10115634556574923 Region score:0.3; TSS score:0.25; Unmatched score:0.49; Average GERP:0.6539455445544557 GeneName:HFE; CADD-Score:7; Consquence:missense; GeneID:ENSG00000010704; TranscriptID:ENST00000357618; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002311 28540026 NONHSAT048434.2 rs4702 ? N/A up to 6,197 european ancestry asd cases//up to 7,377 european ancestry controls//up to 1,190 asd cases//up to 1,190 controls EFO_0003756 N/A Associate Autism spectrum disorder rs4702-? of NONHSAT048434.2 is significantly associated with the autism spectrum disorder by using GWAS analysis in up to 6,197 european ancestry asd cases//up to 7,377 european ancestry controls//up to 1,190 asd cases//up to 1,190 controls(p-value = 1E-10 ;OR = 1.0638298). 0.4 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. genome-wide association analysis NONHSAT048434.2 lncRNA Autism spectrum disorder 0.33 TTTGTAAGAT(G > A,C)CTGGGTTGGT chr15: 90883330 0.3538,0.6462,. 0.31215755606523955,0.65891787716615698,0.02892456676860346 Region score:0.49; TSS score:0.55; Unmatched score:0.86; Average GERP:2.205387128712872 GeneName:FES; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000182511; TranscriptID:ENST00000328850; AnnoType:UPSTREAM; mirSVR-Score:-0.8627; mirSVR-E:-17.14 | GeneName:FURIN; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000140564; TranscriptID:ENST00000618099; AnnoType:3PRIME_UTR; mirSVR-Score:-0.8627; mirSVR-E:-17.14 | NCRV0000002312 26634245 NONHSAT171813.1 rs35583595 C N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs35583595-C of NONHSAT171813.1 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 4E-7 ;OR = 0.048). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT171813.1 lncRNA Pulmonary function measurement 0.33 TGTTCCCTCC(C > A,G)TCCCCTAGGA chr15: 78727810 0.7183,.,0.2817 0.67854071100917431,0.00003185524974515,0.32142743374108053 Region score:0.43; TSS score:0.33; Unmatched score:0.64; Average GERP:0.4276908045977013 GeneName:AC022748.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000261303; TranscriptID:ENST00000564933; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CHRNB4; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000117971; TranscriptID:ENST00000558216; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000522558; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002313 27863252 NONHSAT064202.2 rs4499344 A N/A 164,454 european ancestry individuals EFO_0004584 N/A Associate Mean platelet volume rs4499344-A of NONHSAT064202.2 is significantly associated with the mean platelet volume by using GWAS analysis in 164,454 european ancestry individuals(p-value = 3E-9 ;OR = 0.02367493). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT064202.2 lncRNA Mean platelet volume 0.33 TGGGGGTGAC(G > A)TGAGTCCGGT chr19: 32582525 0.3666,0.6334 0.50785231906218144,0.49214768093781855 Region score:0.24; TSS score:0.16; Unmatched score:0.61; Average GERP:-0.745140594059406 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000108722; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PDCD5; CADD-Score:2; Consquence:intron; GeneID:ENSG00000105185; TranscriptID:ENST00000590247; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002314 25944697 H19 rs3741216 T N/a 500 gastric cancer patients and 500 healthy controls. EFO_0000178 N/A No significance for risk Gastric cancer rs3741216-T of H19 and its dysfunction is not significantly associated with gastric cancer by using case-control analysis in 500 gastric cancer patients and 500 healthy controls -0.4 Tag SNPs in long non-coding RNA H19 contribute to susceptibility to gastric cancer in the Chinese Han population. case-control analysis H19 lncRNA Gastric cancer -0.33 TAGTGCAAAT(T > A)AAATTCAGAA chr11: 1995487 N/A 1 Region score:0.2; TSS score:0.55; Unmatched score:0.8; Average GERP:0.7532663366336626 GeneName:H19; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000130600; TranscriptID:ENST00000414790; AnnoType:NONCODING_CHANGE; mirSVR-Score:-1.2884; mirSVR-E:-8.26 | GeneName:LINC01219; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000232987; TranscriptID:ENST00000418612; AnnoType:DOWNSTREAM; mirSVR-Score:-1.2884; mirSVR-E:-8.26 | GeneName:MIR675; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000284010; TranscriptID:ENST00000390168; AnnoType:DOWNSTREAM; mirSVR-Score:-1.2884; mirSVR-E:-8.26 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000035875; AnnoType:REGULATORY; mirSVR-Score:-1.2884; mirSVR-E:-8.26 | GeneName:RF01972; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000275266; TranscriptID:ENST00000617997; AnnoType:UPSTREAM; mirSVR-Score:-1.2884; mirSVR-E:-8.26 | GeneName:RF01973; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000274866; TranscriptID:ENST00000620857; AnnoType:UPSTREAM; mirSVR-Score:-1.2884; mirSVR-E:-8.26 | NCRV0000002315 23555923 hsa-let-7f-2 rs17276588 A N/A 191 patients with TNBC and 192 healthy female controls EFO_0005537 N/A no significance for risk triple-negative breast cancer rs17276588-A of hsa-let-7f-2 and its dysfunction is not significantly associated with Triple-negative breast cancer by using case-control analysis in 191 patients with TNBC and 192 healthy female controls -0.4 There is no association between microRNA gene polymorphisms and risk of triple negative breast cancer in a Chinese Han population. case-control analysis hsa-let-7f-2 miRNA Triple-negative breast cancer -0.33 ACCAATGTGG(G > A)ACTTTGCAAG chrX: 53557457 0.9012,0.09881 0.94305874108053007,0.05694125891946992 Region score:0.66; TSS score:0.13; Unmatched score:0.41; Average GERP:1.1050594059405945 GeneName:HUWE1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000086758; TranscriptID:ENST00000342160; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR98; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000271886; TranscriptID:ENST00000606724; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIRLET7F2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000208012; TranscriptID:ENST00000385277; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002316 24529757 NONHSAT191849.1 rs9977018 ? N/A 250 han chinese ancestry cases//250 han chinese ancestry controls EFO_0001357 N/A Associate Amyotrophic lateral sclerosis (sporadic) rs9977018-? of NONHSAT191849.1 is significantly associated with the amyotrophic lateral sclerosis (sporadic) by using GWAS analysis in 250 han chinese ancestry cases//250 han chinese ancestry controls(p-value = 2E-9 ;OR = ?). 0.4 Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations. genome-wide association analysis NONHSAT191849.1 lncRNA Sporadic amyotrophic lateral sclerosis 0.33 AAGTAAGTTG(T > G)TCAGAGCTAC chr21: 41616809 0.8235,0.1765 0.77551605504587155,0.22448394495412844 Region score:0.29; TSS score:0.44; Unmatched score:0.38; Average GERP:-0.2962411782178218 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000142588; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002317 24413317 miR-605 rs2043556 C N/a 16399 cases and 21779 controls from seven published studies in eight common cancers EFO_0000311 N/A Increasing risk Cancer rs2043556-C of miR-605 and its dysfunction is significantly associated with the increasing risk of cancer by using meta-analysis in 16399 cases and 21779 controls from seven published studies in eight common cancers. 0.4 MicroRNA sequence polymorphisms and the risk of different types of cancer. meta-analysis hsa-mir-605 miRNA Cancer 0.33 AGATTTAGAA(T > C)CAAGTTAGGA chr10: 51299646 0.7404,0.2596 0.75316163353720693,0.24683836646279306 Region score:0.25; TSS score:0.08; Unmatched score:0.47; Average GERP:-0.3992871287128711 GeneName:AC069079.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000235279; TranscriptID:ENST00000419889; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR605; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207813; TranscriptID:ENST00000385078; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PRKG1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000185532; TranscriptID:ENST00000373980; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002318 27927641 NONHSAT173433.1 rs12445022 ? N/A 178 european ancestry cases//434 european ancestry controls//81 hispanic/latin american cases//177 hispanic/latin american controls//511 cases//6,336 controls EFO_1001999 N/A Associate Systemic juvenile idiopathic arthritis rs12445022-? of NONHSAT173433.1 is significantly associated with the systemic juvenile idiopathic arthritis by using GWAS analysis in 178 european ancestry cases//434 european ancestry controls//81 hispanic/latin american cases//177 hispanic/latin american controls//511 cases//6,336 controls(p-value = 2E-6 ;OR = 1.5). 0.4 Genetic architecture distinguishes systemic juvenile idiopathic arthritis from other forms of juvenile idiopathic arthritis: clinical and therapeutic implications. genome-wide association analysis NONHSAT173433.1 lncRNA Systemic juvenile idiopathic arthritis 0.33 GAGAGCCTGG(G > A)AACCCTTACC chr16: 87541726 0.7929,0.2071 0.74020451070336391,0.25979548929663608 Region score:0.34; TSS score:0.55; Unmatched score:0.36; Average GERP:-1.0310277227722768 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002319 22216198 NONHSAT188679.1 rs11906160 ? N/A 397 european ancestry individuals from 21 families EFO_0004633 N/A Associate Anticoagulant levels rs11906160-? of NONHSAT188679.1 is significantly associated with the anticoagulant levels by using GWAS analysis in 397 european ancestry individuals from 21 families(p-value = 1E-6 ;OR = ?). 0.4 A genome-wide association study of the Protein C anticoagulant pathway. genome-wide association analysis NONHSAT188679.1 lncRNA Protein c measurement 0.33 GCCTTGGGCC(G > A)CCTTGAACCT chr20: 34977952 0.8438,0.1562 0.84777172528032619,0.15222827471967380 Region score:0.14; TSS score:0.36; Unmatched score:0.75; Average GERP:0.01683762376237619 GeneName:MYH7B; CADD-Score:7; Consquence:missense; GeneID:ENSG00000078814; TranscriptID:ENST00000262873; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000649799; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002320 26670097 miR-548at-5p rs11651671 G Dominant 13,708 PD cases (39% female) and 95,282 controls (46% female) EFO_0002508 N/A increasing risk Parkinson's disease rs11651671-G of hsa-mir-548a-1 and its dysfunction is significantly associated with the increasing risk of Parkinson's disease by using case-control analysis in 13,708 PD cases (39% female) and 95,282 controls (46% female) 0.9 Genetic Variants in MicroRNAs and Their Binding Sites Are Associated with the Risk of Parkinson Disease. case-control analysis hsa-mir-548a-1 miRNA Parkinson's disease 0.593 AAGTTATTGC(G > A,T)GTTTTGGCTG chr17: 42494785 0.8295,0.1705,. 0.77047496177370030,0.22952503822629969,. Region score:0.31; TSS score:0.08; Unmatched score:0.25; Average GERP:-0.49669900000000006 GeneName:AC107993.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000267222; TranscriptID:ENST00000591343; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ATP6V0A1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000033627; TranscriptID:ENST00000264649; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR548AT; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000264314; TranscriptID:ENST00000578714; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002321 17554300 NONHSAT157830.1 rs6601764 C N/A 1,748 european ancestry cases//2,938 european ancestry controls; (see parkes 2007) EFO_0000384 N/A Associate Crohn's disease rs6601764-C of NONHSAT157830.1 is significantly associated with the crohn's disease by using GWAS analysis in 1,748 european ancestry cases//2,938 european ancestry controls; (see parkes 2007)(p-value = 9E-6 ;OR = 1.16). 0.4 Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. genome-wide association analysis NONHSAT157830.1 lncRNA Crohn's disease 0.33 TGACAGGAGT(C > T)AAGTAAGTGA chr10: 3820350 0.6633,0.3367 0.55678994648318042,0.44321005351681957 Region score:0.33; TSS score:0.32; Unmatched score:0.12; Average GERP:-2.0109643564356436 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002322 27328823 mir-3135b rs116814212 ? N/a 17,008 ad cases and 37,154 controls EFO_0000249 N/A Decreasing risk Alzheimer's disease rs116814212-? of mir-3135b and its dysfunction is significantly associated with the decreasing risk of Alzheimer's disease by using case-control analysis in 17,008 AD cases and 37,154 controls. 0.4 Genome-wide identification of microRNA-related variants associated with risk of Alzheimer's disease. case-control analysis hsa-mir-3135b miRNA Alzheimers disease 0.33 N/A N/A N/A N/A N/A N/A NCRV0000002323 19668339 NONHSAT036860.2 rs11626056 ? N/A 162 european ancestry cases//192 european ancestry controls//7 african american cases//14 african american controls//1 asian ancestry cases//3 asian ancestry controls//2 cases EFO_0005039 N/A Associate Hippocampal atrophy rs11626056-? of NONHSAT036860.2 is significantly associated with the hippocampal atrophy by using GWAS analysis in 162 european ancestry cases//192 european ancestry controls//7 african american cases//14 african american controls//1 asian ancestry cases//3 asian ancestry controls//2 cases(p-value = 1E-6 ;OR = ?). 0.4 Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease. genome-wide association analysis NONHSAT036860.2 lncRNA Hippocampal atrophy 0.33 TTTTGTTGTT(C > T)TGAGGGCATA chr14: 51766558 0.7077,0.2923 0.71649624108053007,0.28350375891946992 Region score:0.31; TSS score:0.19; Unmatched score:0.39; Average GERP:0 GeneName:AL079307.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000258535; TranscriptID:ENST00000553312; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AL079307.2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000259111; TranscriptID:ENST00000557308; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:OR7E106P; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000258550; TranscriptID:ENST00000556941; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002324 19514064 miR-146a rs2910164 C N/a 1,324 chd cases and 1,783 non-chd controls EFO_0005207 N/A No significance for risk Congenital heart disease rs2910164-C of miR-146a and its dysfunction is not significantly associated with congenital heart disease by using case-control analysis in 1,324 CHD cases and 1,783 non-CHD controls. -0.4 Functional variant in microRNA-196a2 contributes to the susceptibility of congenital heart disease in a Chinese population. case-control analysis hsa-mir-146a miRNA Congenital heart disease -0.33 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 N/A 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002325 27126917 NONHSAT106557.2 rs3800123 A N/A 874 european ancestry individuals EFO_0007828 N/A Associate Daytime sleep phenotypes rs3800123-A of NONHSAT106557.2 is significantly associated with the daytime sleep phenotypes by using GWAS analysis in 874 european ancestry individuals(p-value = 4E-8 ;OR = 1.413). 0.4 Genome-wide association analysis of actigraphic sleep phenotypes in the LIFE Adult Study. genome-wide association analysis NONHSAT106557.2 lncRNA Daytime rest measurement 0.33 GCTTTTCATA(T > A)GAATTTCTTC chr6: 1903356 0.8117,0.1883 0.86020323649337410,0.13979676350662589 Region score:0.43; TSS score:0.33; Unmatched score:0.13; Average GERP:-1.5062633663366343 GeneName:GMDS; CADD-Score:2; Consquence:intron; GeneID:ENSG00000112699; TranscriptID:ENST00000380815; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002326 25673413 NONHSAT028070.2 rs11168854 G N/A up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals EFO_0001073 N/A Associate Body mass index rs11168854-G of NONHSAT028070.2 is significantly associated with the body mass index by using GWAS analysis in up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals(p-value = 1E-6 ;OR = 0.016). 0.4 Genetic studies of body mass index yield new insights for obesity biology. genome-wide association analysis NONHSAT028070.2 lncRNA Obesity 0.33 GAACTGTGGG(C > G)TCACCTCTGA chr12: 49091590 0.49,0.51 0.56193456931702344,0.43806543068297655 Region score:0.42; TSS score:0.46; Unmatched score:0.87; Average GERP:-0.0726297029702971 GeneName:AC011603.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000257346; TranscriptID:ENST00000553174; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:DHH; CADD-Score:2; Consquence:intron; GeneID:ENSG00000139549; TranscriptID:ENST00000649637; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LMBR1L; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000139636; TranscriptID:ENST00000267102; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002327 21079520 NONHSAT191827.1 rs1209950 T N/A 105 east asian ancestry cases EFO_0003060 N/A Associate Non-small cell lung cancer (survival) rs1209950-T of NONHSAT191827.1 is significantly associated with the non-small cell lung cancer (survival) by using GWAS analysis in 105 east asian ancestry cases(p-value = 3E-7 ;OR = 4.96). 0.4 Genome-wide association study on overall survival of advanced non-small cell lung cancer patients treated with carboplatin and paclitaxel. genome-wide association analysis NONHSAT191827.1 lncRNA Non-small cell lung cancer 0.33 CAACGGGTCG(C > T)TATTACTATT chr21: 38801604 0.8205,0.1795 0.71056320081549439,0.28943679918450560 Region score:0.4; TSS score:0.44; Unmatched score:0.41; Average GERP:1.0337722772277225 GeneName:ETS2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000157557; TranscriptID:ENST00000360214; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002328 28540026 NONHSAT148332.1 rs301798 ? N/A up to 6,197 european ancestry asd cases//up to 7,377 european ancestry controls//up to 1,190 asd cases//up to 1,190 controls EFO_0003756 N/A Associate Autism spectrum disorder rs301798-? of NONHSAT148332.1 is significantly associated with the autism spectrum disorder by using GWAS analysis in up to 6,197 european ancestry asd cases//up to 7,377 european ancestry controls//up to 1,190 asd cases//up to 1,190 controls(p-value = 7E-9 ;OR = 1.0638298). 0.4 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. genome-wide association analysis NONHSAT148332.1 lncRNA Autism spectrum disorder 0.33 GTTTTCCACT(A > G)TTGAGCTGAA chr1: 8428505 0.7712,0.2288 0.71015704638124362,0.28984295361875637 Region score:0.33; TSS score:0.34; Unmatched score:0.55; Average GERP:-0.1451910891089109 GeneName:RERE-AS1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000232912; TranscriptID:ENST00000449895; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RERE; CADD-Score:2; Consquence:intron; GeneID:ENSG00000142599; TranscriptID:ENST00000337907; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002329 26053186 NONHSAT200140.1 rs72909131 ? N/A 361 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//440 european ancestry current smoker individuals//452 latino current smoker individuals//702 japanese ancestry current smoker individuals EFO_0001071 in smokers Associate 3-hydroxy-1-methylpropylmercapturic acid levels in smokers rs72909131-? of NONHSAT200140.1 is significantly associated with the 3-hydroxy-1-methylpropylmercapturic acid levels in smokers by using GWAS analysis in 361 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//440 european ancestry current smoker individuals//452 latino current smoker individuals//702 japanese ancestry current smoker individuals(p-value = 7E-7 ;OR = 0.5037). 0.4 Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer. genome-wide association analysis NONHSAT200140.1 lncRNA Lung cancer 0.33 GTCTATGAAG(A > T)TCACACTGAG chr4: 82591688 0.9772,0.02276 0.98348305300713557,0.01651694699286442 Region score:0.44; TSS score:0.38; Unmatched score:0.25; Average GERP:-0.5355356435643566 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000728391; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002330 22778062 SNORD115-42 rs75729748 T N/a N/a function N/A Not significant changes in the structure Function rs75729748-T of SNORD115-42 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD115-42 snoRNA Function -0.049 AGTTGGGTCG(A > T)TGATGAGAAC chr15: 25247351 0.9996,0.0003994 0.99978497706422018,0.00021502293577981 Region score:0.58; TSS score:0.14; Unmatched score:0.5; Average GERP:-0.055655445544554726 GeneName:SNHG14; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000224078; TranscriptID:ENST00000453082; AnnoType:INTRONIC; mirSVR-Score:-0.1437; mirSVR-E:-16.02 | GeneName:SNORD115-40; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000272460; TranscriptID:ENST00000606510; AnnoType:DOWNSTREAM; mirSVR-Score:-0.1437; mirSVR-E:-16.02 | GeneName:SNORD115-41; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000200478; TranscriptID:ENST00000363608; AnnoType:DOWNSTREAM; mirSVR-Score:-0.1437; mirSVR-E:-16.02 | GeneName:SNORD115-42; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000201143; TranscriptID:ENST00000364273; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.1437; mirSVR-E:-16.02 | GeneName:SNORD115-43; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000202373; TranscriptID:ENST00000365503; AnnoType:UPSTREAM; mirSVR-Score:-0.1437; mirSVR-E:-16.02 | GeneName:SNORD115-44; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000202261; TranscriptID:ENST00000365391; AnnoType:UPSTREAM; mirSVR-Score:-0.1437; mirSVR-E:-16.02 | NCRV0000002331 22778062 SNORD114-15 rs77762832 T N/A N/A function N/A not significant changes in the structure function rs77762832-T of SNORD114-15 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in nan -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD114-15 snoRNA function -0.049 CCCAATCCTG(G > A,T)ATCGATGATG chr14: 100972672 0.9846,.,0.01538 0.99281664118246687,.,0.00718335881753312 Region score:0.6; TSS score:0.3; Unmatched score:0.62; Average GERP:-1.3682277227722774 GeneName:MEG8; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000225746; TranscriptID:ENST00000638012; AnnoType:INTRONIC; mirSVR-Score:-0.4156; mirSVR-E:-15.99 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000073219; AnnoType:REGULATORY; mirSVR-Score:-0.4156; mirSVR-E:-15.99 | GeneName:RF00181; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000201500; TranscriptID:ENST00000364630; AnnoType:UPSTREAM; mirSVR-Score:-0.4156; mirSVR-E:-15.99 | GeneName:SNORD114-11; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000200608; TranscriptID:ENST00000363738; AnnoType:DOWNSTREAM; mirSVR-Score:-0.4156; mirSVR-E:-15.99 | GeneName:SNORD114-12; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000202270; TranscriptID:ENST00000365400; AnnoType:DOWNSTREAM; mirSVR-Score:-0.4156; mirSVR-E:-15.99 | GeneName:SNORD114-13; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000201247; TranscriptID:ENST00000364377; AnnoType:DOWNSTREAM; mirSVR-Score:-0.4156; mirSVR-E:-15.99 | GeneName:SNORD114-14; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000199593; TranscriptID:ENST00000362723; AnnoType:DOWNSTREAM; mirSVR-Score:-0.4156; mirSVR-E:-15.99 | GeneName:SNORD114-15; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000201557; TranscriptID:ENST00000364687; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.4156; mirSVR-E:-15.99 | GeneName:SNORD114-16; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000199914; TranscriptID:ENST00000363044; AnnoType:UPSTREAM; mirSVR-Score:-0.4156; mirSVR-E:-15.99 | GeneName:SNORD114-17; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000201569; TranscriptID:ENST00000364699; AnnoType:UPSTREAM; mirSVR-Score:-0.4156; mirSVR-E:-15.99 | GeneName:SNORD114-18; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000202142; TranscriptID:ENST00000365272; AnnoType:UPSTREAM; mirSVR-Score:-0.4156; mirSVR-E:-15.99 | GeneName:SNORD114-19; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000199942; TranscriptID:ENST00000363072; AnnoType:UPSTREAM; mirSVR-Score:-0.4156; mirSVR-E:-15.99 | NCRV0000002332 22778062 SNORA39 rs76979192 T N/a N/a function N/A Not significant changes in the structure Function rs76979192-T of SNORA39 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORA39 snoRNA Function -0.049 CTCTTTTCTG(C > T)GCCTGCATTC chr20: 38448083 0.9928,0.007188 0.99553230122324159,0.00446769877675840 Region score:0.45; TSS score:0.25; Unmatched score:0.74; Average GERP:0.12348532673267318 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000137001; AnnoType:REGULATORY; mirSVR-Score:-0.0014; mirSVR-E:-19.61 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000650742; AnnoType:REGULATORY; mirSVR-Score:-0.0014; mirSVR-E:-19.61 | GeneName:SNHG11; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000174365; TranscriptID:ENST00000483342; AnnoType:INTRONIC; mirSVR-Score:-0.0014; mirSVR-E:-19.61 | GeneName:SNORA60; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000199266; TranscriptID:ENST00000362396; AnnoType:UPSTREAM; mirSVR-Score:-0.0014; mirSVR-E:-19.61 | GeneName:SNORA71E; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000274309; TranscriptID:ENST00000365032; AnnoType:UPSTREAM; mirSVR-Score:-0.0014; mirSVR-E:-19.61 | NCRV0000002333 23776548 NONHSAT175635.1 rs3744061 G N/A 18,722 european ancestry individuals; 3,939 european ancestry individuals EFO_0004731 N/A Associate Retinal arteriolar caliber rs3744061-G of NONHSAT175635.1 is significantly associated with the retinal arteriolar caliber by using GWAS analysis in 18,722 european ancestry individuals; 3,939 european ancestry individuals(p-value = 2E-10 ;OR = 0.86). 0.4 Genetic loci for retinal arteriolar microcirculation. genome-wide association analysis NONHSAT175635.1 lncRNA Eye measurement 0.33 TAGCGCACCT(G > A,C)AGTAACAACT chr17: 76737321 0.641,0.359,. 0.58154943934760448,0.41707282110091743,0.00137773955147808 Region score:0.5; TSS score:0.47; Unmatched score:0.89; Average GERP:-1.4232475247524752 GeneName:AC005837.2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000267168; TranscriptID:ENST00000587459; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:METTL23; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000181038; TranscriptID:ENST00000615984; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MFSD11; CADD-Score:3; Consquence:5_prime_UTR; GeneID:ENSG00000092931; TranscriptID:ENST00000588460; AnnoType:5PRIME_UTR; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR636; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000283805; TranscriptID:ENST00000384825; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000098628; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SRSF2; CADD-Score:3; Consquence:5_prime_UTR; GeneID:ENSG00000161547; TranscriptID:ENST00000392485; AnnoType:5PRIME_UTR; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002334 26192919 NONHSAT191834.1 rs2836878 G N/A 6,968 european ancestry cases//20,464 european ancestry controls; 10,679 european ancestry cases//26,715 european ancestry controls//397 iranian ancestry cases//342 iranian ancestry controls//1,239 indian ancestry cases//990 indian ancestry controls//1,134 east asian ancestry cases//3,719 east asian ancestry controls EFO_0000729 N/A Associate Ulcerative colitis rs2836878-G of NONHSAT191834.1 is significantly associated with the ulcerative colitis by using GWAS analysis in 6,968 european ancestry cases//20,464 european ancestry controls; 10,679 european ancestry cases//26,715 european ancestry controls//397 iranian ancestry cases//342 iranian ancestry controls//1,239 indian ancestry cases//990 indian ancestry controls//1,134 east asian ancestry cases//3,719 east asian ancestry controls(p-value = 7E-53 ;OR = 1.25304). 0.4 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. genome-wide association analysis NONHSAT191834.1 lncRNA Ulcerative colitis 0.565 AGTTAAGAAC(G > A)GCTCATCCAG chr21: 39093608 0.7907,0.2093 0.77355695718654434,0.22644304281345565 Region score:0.28; TSS score:0.39; Unmatched score:0.14; Average GERP:-0.7416544554455443 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002334 20228799 NONHSAT191834.1 rs2836878 G N/A 2,693 european ancestry cases//6,791 european ancestry controls; 2,009 european ancestry cases//1,580 european ancestry controls EFO_0000729 N/A Associate Ulcerative colitis rs2836878-G of NONHSAT191834.1 is significantly associated with the ulcerative colitis by using GWAS analysis in 2,693 european ancestry cases//6,791 european ancestry controls; 2,009 european ancestry cases//1,580 european ancestry controls(p-value = 1E-8 ;OR = 1.27). 0.4 Genome-wide association identifies multiple ulcerative colitis susceptibility loci. genome-wide association analysis NONHSAT191834.1 lncRNA Ulcerative colitis 0.565 AGTTAAGAAC(G > A)GCTCATCCAG chr21: 39093608 0.7907,0.2093 0.77355695718654434,0.22644304281345565 Region score:0.28; TSS score:0.39; Unmatched score:0.14; Average GERP:-0.7416544554455443 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002334 28067908 NONHSAT191834.1 rs2836878 ? N/A 12,366 european and unknown ancestry cases//33,609 european and unknown ancestry controls EFO_0000729 N/A Associate Ulcerative colitis rs2836878-? of NONHSAT191834.1 is significantly associated with the ulcerative colitis by using GWAS analysis in 12,366 european and unknown ancestry cases//33,609 european and unknown ancestry controls(p-value = 2E-32 ;OR = ?). 0.4 Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease. genome-wide association analysis NONHSAT191834.1 lncRNA Ulcerative colitis 0.565 AGTTAAGAAC(G > A)GCTCATCCAG chr21: 39093608 0.7907,0.2093 0.77355695718654434,0.22644304281345565 Region score:0.28; TSS score:0.39; Unmatched score:0.14; Average GERP:-0.7416544554455443 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002334 21297633 NONHSAT191834.1 rs2836878 G N/A 6,687 european ancestry cases//19,718 european ancestry controls; 9,628 european ancestry cases//12,917 european ancestry controls EFO_0000729 N/A Associate Ulcerative colitis rs2836878-G of NONHSAT191834.1 is significantly associated with the ulcerative colitis by using GWAS analysis in 6,687 european ancestry cases//19,718 european ancestry controls; 9,628 european ancestry cases//12,917 european ancestry controls(p-value = 2E-22 ;OR = 1.25). 0.4 Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. genome-wide association analysis NONHSAT191834.1 lncRNA Ulcerative colitis 0.565 AGTTAAGAAC(G > A)GCTCATCCAG chr21: 39093608 0.7907,0.2093 0.77355695718654434,0.22644304281345565 Region score:0.28; TSS score:0.39; Unmatched score:0.14; Average GERP:-0.7416544554455443 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002335 26174813 NONHSAT090061.2 rs4681767 T N/A 479 european ancestry adult cases EFO_0003888 N/A Associate Attention function in attention deficit hyperactive disorder rs4681767-T of NONHSAT090061.2 is significantly associated with the attention function in attention deficit hyperactive disorder by using GWAS analysis in 479 european ancestry adult cases(p-value = 8E-6 ;OR = 0.18). 0.4 New suggestive genetic loci and biological pathways for attention function in adult attention-deficit/hyperactivity disorder. genome-wide association analysis NONHSAT090061.2 lncRNA Attention deficit hyperactivity disorder 0.33 GTACAAACAT(C > T)TTCTAATATA chr3: 56725664 0.2736,0.7264 0.41064602446483180,0.58935397553516819 Region score:0.33; TSS score:0.33; Unmatched score:0.2; Average GERP:-0.20609405940594064 GeneName:ARHGEF3; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000163947; TranscriptID:ENST00000338458; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002336 29049738 miR-4707 rs2273626 C N/a Iop (n = 37,930 individuals), vcdr (n = 23,899 individuals), cup area (n = 22,489 individuals), and disc area (n = 22,504 individuals) EFO_0004190 N/A Increasing risk Primary open-angle glaucoma rs2273626-C of miR-4707 and its dysfunction is significantly associated with the increasing risk of primary open-angle glaucoma by using case-control analysis in IOP (n = 37,930 individuals), VCDR (n = 23,899 individuals), cup area (n = 22,489 individuals), and disc area (n = 22,504 individuals). By using the disease cell lines or tissues, the mutation of miR-4707 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 A Genome-Wide Scan for MicroRNA-Related Genetic Variants Associated With Primary Open-Angle Glaucoma. case-control analysis; Function hsa-mir-4707 miRNA Open-angle glaucoma 0.593 TCGGCTGGGG(C > A)GGGCTGGCCA chr14: 22956973 0.5202,0.4798 0.57904880224260958,0.42095119775739041 Region score:0.48; TSS score:0.34; Unmatched score:0.98; Average GERP:-0.5920673267326731 GeneName:AL132780.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000257285; TranscriptID:ENST00000548322; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AL132780.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000259132; TranscriptID:ENST00000555074; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HAUS4; CADD-Score:3; Consquence:5_prime_UTR; GeneID:ENSG00000092036; TranscriptID:ENST00000206474; AnnoType:5PRIME_UTR; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR4707; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000284118; TranscriptID:ENST00000579686; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000066667; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002337 29524576 CDH2 intron 2 rs539075 G N/A 292 nonsyndromic cleft lip with or without cleft palate (NSCL 卤 P) cases and 287 controls HP_0000175 N/A increasing risk Cleft palate rs539075-G of CDH2 intron 2 and its dysfunction is significantly associated with the increasing risk of Cleft palate by using case-control analysis in 292 nonsyndromic cleft lip with or without cleft palate (NSCL 卤 P) cases and 287 controls 0.9 A novel non-coding RNA within an intron of CDH2 and association of its SNP with non-syndromic cleft lip and palate. case-control analysis CDH2 intron 2 lncRNA Cleft palate 0.593 - - - - - - NCRV0000002338 26805783 NONHSAT180207.1 rs8109288 G N/A 12,491 hispanic/latin american individuals; 7,170 hispanic/latin american individuals EFO_0004309 N/A Associate Platelet count rs8109288-G of NONHSAT180207.1 is significantly associated with the platelet count by using GWAS analysis in 12,491 hispanic/latin american individuals; 7,170 hispanic/latin american individuals(p-value = 2E-8 ;OR = 13.83). 0.4 Genome-wide Association Study of Platelet Count Identifies Ancestry-Specific Loci in Hispanic/Latino Americans. genome-wide association analysis NONHSAT180207.1 lncRNA Platelet count 0.52 GGGGCTGTCT(G > A)CCCACCCTGG chr19: 16074749 0.9667,0.03335 0.95987034913353720,0.04012965086646279 Region score:0.21; TSS score:0.22; Unmatched score:0.47; Average GERP:-0.21441188118811877 GeneName:AC008894.3; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000279198; TranscriptID:ENST00000624324; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TPM4; CADD-Score:2; Consquence:intron; GeneID:ENSG00000167460; TranscriptID:ENST00000646974; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002338 22139419 NONHSAT180207.1 rs8109288 G N/A 38,891 european ancestry individuals//1,661 val borbera (founder/genetic isolate) individuals//521 carlantino (founder/genetic isolate) individuals//1,198 friuli venezia giulia (founder/genetic isolate) individuals//1,213 south tyrolean (founder/genetic isolate) individuals//890 sorbian (founder/genetic isolate) individuals//4,292 sardinian (founder/genetic isolate) individuals; up to 16,949 european ancestry individuals//854 cliento (founder/genetic isolate) individuals//1,035 talana (founder/genetic isolate) individuals EFO_0004309 N/A Associate Platelet count rs8109288-G of NONHSAT180207.1 is significantly associated with the platelet count by using GWAS analysis in 38,891 european ancestry individuals//1,661 val borbera (founder/genetic isolate) individuals//521 carlantino (founder/genetic isolate) individuals//1,198 friuli venezia giulia (founder/genetic isolate) individuals//1,213 south tyrolean (founder/genetic isolate) individuals//890 sorbian (founder/genetic isolate) individuals//4,292 sardinian (founder/genetic isolate) individuals; up to 16,949 european ancestry individuals//854 cliento (founder/genetic isolate) individuals//1,035 talana (founder/genetic isolate) individuals(p-value = 3E-10 ;OR = 11.945). 0.4 New gene functions in megakaryopoiesis and platelet formation. genome-wide association analysis NONHSAT180207.1 lncRNA Platelet count 0.52 GGGGCTGTCT(G > A)CCCACCCTGG chr19: 16074749 0.9667,0.03335 0.95987034913353720,0.04012965086646279 Region score:0.21; TSS score:0.22; Unmatched score:0.47; Average GERP:-0.21441188118811877 GeneName:AC008894.3; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000279198; TranscriptID:ENST00000624324; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TPM4; CADD-Score:2; Consquence:intron; GeneID:ENSG00000167460; TranscriptID:ENST00000646974; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002338 22423221 NONHSAT180207.1 rs8109288 G N/A 16,388 african american individuals EFO_0004309 N/A Associate Mean platelet volume rs8109288-G of NONHSAT180207.1 is significantly associated with the mean platelet volume by using GWAS analysis in 16,388 african american individuals(p-value = 5E-10 ;OR = 8.72). 0.4 A meta-analysis and genome-wide association study of platelet count and mean platelet volume in african americans. genome-wide association analysis NONHSAT180207.1 lncRNA Platelet count 0.52 GGGGCTGTCT(G > A)CCCACCCTGG chr19: 16074749 0.9667,0.03335 0.95987034913353720,0.04012965086646279 Region score:0.21; TSS score:0.22; Unmatched score:0.47; Average GERP:-0.21441188118811877 GeneName:AC008894.3; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000279198; TranscriptID:ENST00000624324; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TPM4; CADD-Score:2; Consquence:intron; GeneID:ENSG00000167460; TranscriptID:ENST00000646974; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002339 25673412 NONHSAT170927.1 rs1440372 T N/A up to 56,910 european ancestry men//up to 86,570 european ancestry women; up to 36,570 european ancestry men//30,172 european ancestry women//915 filipino ancestry men//735 filipino ancestry women//2,351 african american/afro-caribbean ancestry men//6,258 african american/afro-caribbean ancestry women//2,285 south asian ancestry men//506 south asian ancestry women//195 seychellois ancestry men//266 seychellois ancestry women EFO_0004343 N/A Associate Waist-hip ratio rs1440372-T of NONHSAT170927.1 is significantly associated with the waist-hip ratio by using GWAS analysis in up to 56,910 european ancestry men//up to 86,570 european ancestry women; up to 36,570 european ancestry men//30,172 european ancestry women//915 filipino ancestry men//735 filipino ancestry women//2,351 african american/afro-caribbean ancestry men//6,258 african american/afro-caribbean ancestry women//2,285 south asian ancestry men//506 south asian ancestry women//195 seychellois ancestry men//266 seychellois ancestry women(p-value = 8E-9 ;OR = 0.0213). 0.4 New genetic loci link adipose and insulin biology to body fat distribution. genome-wide association analysis NONHSAT170927.1 lncRNA Waist-hip ratio 0.33 GATCTTTGCT(T > C)GCTTTTCTTC chr15: 66740813 0.1713,0.8287 0.20690781090723751,0.79309218909276248 Region score:0.37; TSS score:0.26; Unmatched score:0.16; Average GERP:0.9008386138613861 GeneName:AC013564.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000274995; TranscriptID:ENST00000612806; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000519134; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SMAD6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000137834; TranscriptID:ENST00000288840; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002340 27989323 NONHSAT221797.1 rs143982833 TCTC N/A 3,631 finnish ancestry individuals EFO_0005140 N/A Associate Ctack levels rs143982833-TCTC of NONHSAT221797.1 is significantly associated with the ctack levels by using GWAS analysis in 3,631 finnish ancestry individuals(p-value = 2E-6 ;OR = 0.4). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. genome-wide association analysis NONHSAT221797.1 lncRNA Autoimmune disease 0.33 CTCCTGTCCT(TCTC > T)CTCCTGCCCT chr9: 33414782 0.9653,0.03474 0.97106746941896024,0.02893253058103975 N/A GeneName:AL356218.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000223678; TranscriptID:ENST00000450864; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002341 26634245 NONHSAT074560.2 rs78170588 A N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio rs78170588-A of NONHSAT074560.2 is significantly associated with the post bronchodilator fev1/fvc ratio by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 3E-6 ;OR = 0.096). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT074560.2 lncRNA Pulmonary function measurement 0.33 ATCATCACAG(G > A)GGCGCCTCCA chr2: 134450700 0.9954,0.004593 0.99565175840978593,0.00434824159021406 Region score:0.34; TSS score:0.74; Unmatched score:0.74; Average GERP:-0.8621415841584156 GeneName:MGAT5; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000152127; TranscriptID:ENST00000409645; AnnoType:3PRIME_UTR; mirSVR-Score:-0.0016; mirSVR-E:-22.04 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000293713; AnnoType:REGULATORY; mirSVR-Score:-0.0016; mirSVR-E:-22.04 | NCRV0000002342 29186694 NONHSAT167990.1 rs2251499 ? N/A 107,207 european ancestry individuals EFO_0008354 N/A Associate Cognitive ability rs2251499-? of NONHSAT167990.1 is significantly associated with the cognitive ability by using GWAS analysis in 107,207 european ancestry individuals(p-value = 1E-10 ;OR = 6.457). 0.4 Large-Scale Cognitive GWAS Meta-Analysis Reveals Tissue-Specific Neural Expression and Potential Nootropic Drug Targets. genome-wide association analysis NONHSAT167990.1 lncRNA Cognitive function measurement 0.33 AAATGTAATA(T > A,C,G)GCTCATCCCC chr13: 105987507 0.1795,.,0.8205,. 0.19704861111111111,0.01318807339449541,0.78971553261977573,0.00004778287461773 Region score:0.25; TSS score:0.12; Unmatched score:0.02; Average GERP:0.04915881188118827 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002343 27863252 NONHSAT160374.1 rs174544 A N/A 170,494 european ancestry individuals EFO_0007989 N/A Associate Monocyte percentage of white cells rs174544-A of NONHSAT160374.1 is significantly associated with the monocyte percentage of white cells by using GWAS analysis in 170,494 european ancestry individuals(p-value = 3E-15 ;OR = 0.03037582). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT160374.1 lncRNA Monocypte percentage of leukocytes 0.33 GCAGGCTTGA(C > A)CTCCTGGGCC chr11: 61800281 0.7196,0.2804 0.74558804791029561,0.25441195208970438 Region score:0.51; TSS score:0.35; Unmatched score:0.44; Average GERP:0.004613861386138623 GeneName:FADS1; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000149485; TranscriptID:ENST00000350997; AnnoType:3PRIME_UTR; mirSVR-Score:-0.0309; mirSVR-E:-22.93 | GeneName:FADS2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000134824; TranscriptID:ENST00000574708; AnnoType:INTRONIC; mirSVR-Score:-0.0309; mirSVR-E:-22.93 | GeneName:FEN1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000168496; TranscriptID:ENST00000305885; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0309; mirSVR-E:-22.93 | NCRV0000002344 26681038 let-7 rs712 T N/a 228 patients with histologically confirmed breast cancer and 251 healthy controls EFO_0000305 N/A Poor prognosis Breast cancer rs712-T of let-7 and its dysfunction is significantly associated with the poor prognosis of Breast cancer by using case-control analysis in 228 patients with histologically confirmed Breast cancer and 251 healthy controls. 0.4 Association of a let-7 KRAS rs712 polymorphism with the risk of breast cancer. case-control analysis hsa-let-7a-1 miRNA Breast cancer 0 ACTGGCACTT(A > C)GAGGAAAAAA chr12: 25209618 0.4794,0.5206 0.53632294852191641,0.46367705147808358 Region score:0.51; TSS score:0.88; Unmatched score:0.78; Average GERP:4.361722772277226 GeneName:AC092794.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000274987; TranscriptID:ENST00000612734; AnnoType:UPSTREAM; mirSVR-Score:-0.7052; mirSVR-E:-13.57 | GeneName:ETFRF1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000205707; TranscriptID:ENST00000381356; AnnoType:DOWNSTREAM; mirSVR-Score:-0.7052; mirSVR-E:-13.57 | GeneName:KRAS; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000133703; TranscriptID:ENST00000256078; AnnoType:3PRIME_UTR; mirSVR-Score:-0.7052; mirSVR-E:-13.57 | NCRV0000002344 26681038 let-7 rs712 T N/a 228 patients with histologically confirmed breast cancer and 251 healthy controls EFO_0000305 N/A No significance for risk Breast cancer rs712-T of let-7 and its dysfunction is not significantly associated with Breast cancer by using case-control analysis in 228 patients with histologically confirmed Breast cancer and 251 healthy controls. -0.4 Association of a let-7 KRAS rs712 polymorphism with the risk of breast cancer. case-control analysis hsa-let-7a-1 miRNA Breast cancer 0 ACTGGCACTT(A > C)GAGGAAAAAA chr12: 25209618 0.4794,0.5206 0.53632294852191641,0.46367705147808358 Region score:0.51; TSS score:0.88; Unmatched score:0.78; Average GERP:4.361722772277226 GeneName:AC092794.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000274987; TranscriptID:ENST00000612734; AnnoType:UPSTREAM; mirSVR-Score:-0.7052; mirSVR-E:-13.57 | GeneName:ETFRF1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000205707; TranscriptID:ENST00000381356; AnnoType:DOWNSTREAM; mirSVR-Score:-0.7052; mirSVR-E:-13.57 | GeneName:KRAS; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000133703; TranscriptID:ENST00000256078; AnnoType:3PRIME_UTR; mirSVR-Score:-0.7052; mirSVR-E:-13.57 | NCRV0000002345 28195142 NONHSAT036407.2 rs368187 G N/A 2,637 european ancestry cases//364 non-array typed//familial imputed icelandic ancestry cases//134,811 european ancestry controls//152,739 non-array typed//familial imputed icelandic ancestry controls. EFO_0002892 N/A Associate Thyroid cancer rs368187-G of NONHSAT036407.2 is significantly associated with the thyroid cancer by using GWAS analysis in 2,637 european ancestry cases//364 non-array typed//familial imputed icelandic ancestry cases//134,811 european ancestry controls//152,739 non-array typed//familial imputed icelandic ancestry controls.(p-value = 5E-23 ;OR = 1.39). 0.4 A genome-wide association study yields five novel thyroid cancer risk loci. genome-wide association analysis NONHSAT036407.2 lncRNA Thyroid cancer 0.33 AATGAGTACT(G > A,C,T)TTATGAGTCT chr14: 36063370 0.385,.,0.615,. 0.42701165902140672,0.00005574668705402,0.57290870285423037,0.00002389143730886 Region score:0.18; TSS score:0.1; Unmatched score:0.18; Average GERP:0.4039911881188119 GeneName:AL133304.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000257826; TranscriptID:ENST00000546376; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AL133304.3; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000258342; TranscriptID:ENST00000550089; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002346 23740937 NONHSAT171024.1 rs7172677 ? N/A up to 2,761 european ancestry systemic sclerosis cases//769 european ancestry systemic lupus erythematosus cases//7,381 european ancestry controls; up to 1,578 european ancestry systemic sclerosis cases//1,727 european ancestry systemic lupus erythematosus cases//6,893 european ancestry controls EFO_0000717 N/A Associate Systemic lupus erythematosus and systemic sclerosis rs7172677-? of NONHSAT171024.1 is significantly associated with the systemic lupus erythematosus and systemic sclerosis by using GWAS analysis in up to 2,761 european ancestry systemic sclerosis cases//769 european ancestry systemic lupus erythematosus cases//7,381 european ancestry controls; up to 1,578 european ancestry systemic sclerosis cases//1,727 european ancestry systemic lupus erythematosus cases//6,893 european ancestry controls(p-value = 3E-8 ;OR = 1.207). 0.4 A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci. genome-wide association analysis NONHSAT171024.1 lncRNA Systemic scleroderma 0.33 TTCATTACAT(A > C)ATTGTTTGAA chr15: 75132252 0.2646,0.7354 0.27789723496432212,0.72210276503567787 Region score:0.21; TSS score:0.21; Unmatched score:0.05; Average GERP:0 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002347 28443625 NONHSAT141480.2 rs2650492 A N/A 98,173 european ancestry women//64,373 european ancestry men//5,829 european ancestry individuals//10,500 african american/afro-caribbean ancestry women//2,706 african american/afro-caribbean ancestry men//1,030 indian asian ancestry women//7,648 indian asian ancestry men//1,793 filipino ancestry women//2,944 hispanic/latino ancestry women//1,764 hispanic/latino ancestry men; 21,496 european ancestry women//24,385 european ancestry men//118,364 european ancestry individuals//2,326 african american/afro-caribbean ancestry women//855 african american/afro-caribbean ancestry men EFO_0001073 adjusted for smoking behaviour Associate Bmi (adjusted for smoking behaviour) rs2650492-A of NONHSAT141480.2 is significantly associated with the bmi (adjusted for smoking behaviour) by using GWAS analysis in 98,173 european ancestry women//64,373 european ancestry men//5,829 european ancestry individuals//10,500 african american/afro-caribbean ancestry women//2,706 african american/afro-caribbean ancestry men//1,030 indian asian ancestry women//7,648 indian asian ancestry men//1,793 filipino ancestry women//2,944 hispanic/latino ancestry women//1,764 hispanic/latino ancestry men; 21,496 european ancestry women//24,385 european ancestry men//118,364 european ancestry individuals//2,326 african american/afro-caribbean ancestry women//855 african american/afro-caribbean ancestry men(p-value = 3E-8 ;OR = 0.0225). 0.4 Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits. genome-wide association analysis NONHSAT141480.2 lncRNA Obesity 0.565 GTGGACACCA(G > A)GGGGCGAGTG chr16: 28322090 0.8868,0.1132 0.81419629204892966,0.18580370795107033 Region score:0.55; TSS score:0.78; Unmatched score:0.65; Average GERP:-1.5620792079207917 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000280223; AnnoType:REGULATORY; mirSVR-Score:-0.0293; mirSVR-E:-23.71 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000534908; AnnoType:REGULATORY; mirSVR-Score:-0.0293; mirSVR-E:-23.71 | GeneName:SBK1; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000188322; TranscriptID:ENST00000341901; AnnoType:3PRIME_UTR; mirSVR-Score:-0.0293; mirSVR-E:-23.71 | NCRV0000002347 25673413 NONHSAT141480.2 rs2650492 A N/A up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals EFO_0001073 N/A Associate Body mass index rs2650492-A of NONHSAT141480.2 is significantly associated with the body mass index by using GWAS analysis in up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals(p-value = 2E-9 ;OR = 0.021). 0.4 Genetic studies of body mass index yield new insights for obesity biology. genome-wide association analysis NONHSAT141480.2 lncRNA Obesity 0.565 GTGGACACCA(G > A)GGGGCGAGTG chr16: 28322090 0.8868,0.1132 0.81419629204892966,0.18580370795107033 Region score:0.55; TSS score:0.78; Unmatched score:0.65; Average GERP:-1.5620792079207917 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000280223; AnnoType:REGULATORY; mirSVR-Score:-0.0293; mirSVR-E:-23.71 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000534908; AnnoType:REGULATORY; mirSVR-Score:-0.0293; mirSVR-E:-23.71 | GeneName:SBK1; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000188322; TranscriptID:ENST00000341901; AnnoType:3PRIME_UTR; mirSVR-Score:-0.0293; mirSVR-E:-23.71 | NCRV0000002347 28448500 NONHSAT141480.2 rs2650492 ? N/A 2,518 african american women//86,278 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//55,137 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men EFO_0001073 joint analysis main effects and physical activity interaction Associate Body mass index (joint analysis main effects and physical activity interaction) rs2650492-? of NONHSAT141480.2 is significantly associated with the body mass index (joint analysis main effects and physical activity interaction) by using GWAS analysis in 2,518 african american women//86,278 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//55,137 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men(p-value = 2E-7 ;OR = ?). 0.4 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. genome-wide association analysis NONHSAT141480.2 lncRNA Obesity 0.565 GTGGACACCA(G > A)GGGGCGAGTG chr16: 28322090 0.8868,0.1132 0.81419629204892966,0.18580370795107033 Region score:0.55; TSS score:0.78; Unmatched score:0.65; Average GERP:-1.5620792079207917 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000280223; AnnoType:REGULATORY; mirSVR-Score:-0.0293; mirSVR-E:-23.71 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000534908; AnnoType:REGULATORY; mirSVR-Score:-0.0293; mirSVR-E:-23.71 | GeneName:SBK1; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000188322; TranscriptID:ENST00000341901; AnnoType:3PRIME_UTR; mirSVR-Score:-0.0293; mirSVR-E:-23.71 | NCRV0000002347 28448500 NONHSAT141480.2 rs2650492 A N/A 2,518 african american women//86,278 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//55,137 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men EFO_0001073 joint analysis main effects and physical activity interaction Associate Body mass index rs2650492-A of NONHSAT141480.2 is significantly associated with the body mass index by using GWAS analysis in 2,518 african american women//86,278 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//55,137 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men(p-value = 3E-8 ;OR = 0.0238). 0.4 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. genome-wide association analysis NONHSAT141480.2 lncRNA Obesity 0.565 GTGGACACCA(G > A)GGGGCGAGTG chr16: 28322090 0.8868,0.1132 0.81419629204892966,0.18580370795107033 Region score:0.55; TSS score:0.78; Unmatched score:0.65; Average GERP:-1.5620792079207917 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000280223; AnnoType:REGULATORY; mirSVR-Score:-0.0293; mirSVR-E:-23.71 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000534908; AnnoType:REGULATORY; mirSVR-Score:-0.0293; mirSVR-E:-23.71 | GeneName:SBK1; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000188322; TranscriptID:ENST00000341901; AnnoType:3PRIME_UTR; mirSVR-Score:-0.0293; mirSVR-E:-23.71 | NCRV0000002348 23648065 NONHSAT164697.1 rs894734 G N/A 294 japanese ancestry cases//2,249 japanese ancestry controls DOID_1227 all antimetabolite drugs Associate Adverse response to chemotherapy (neutropenia/leucopenia) rs894734-G of NONHSAT164697.1 is significantly associated with the adverse response to chemotherapy (neutropenia/leucopenia) by using GWAS analysis in 294 japanese ancestry cases//2,249 japanese ancestry controls(p-value = 4E-6 ;OR = 1.619). 0.4 Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan. genome-wide association analysis NONHSAT164697.1 lncRNA Neutropenia 0.33 GTGACAGAAC(A > G)CAAAAATGAA chr12: 53925943 0.4101,0.5899 0.40578013506625891,0.59421986493374108 Region score:0.44; TSS score:0.48; Unmatched score:0.22; Average GERP:0.16719990099009904 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000458623; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002349 20190752 NONHSAT206588.1 rs1033180 A N/A 4,533 european ancestry cases//10,750 european ancestry controls; 4,918 european ancestry cases//5,684 european ancestry controls EFO_0001060 N/A Associate Celiac disease rs1033180-A of NONHSAT206588.1 is significantly associated with the celiac disease by using GWAS analysis in 4,533 european ancestry cases//10,750 european ancestry controls; 4,918 european ancestry cases//5,684 european ancestry controls(p-value = 6E-8 ;OR = 1.21). 0.4 Multiple common variants for celiac disease influencing immune gene expression. genome-wide association analysis NONHSAT206588.1 lncRNA Celiac disease 0.33 TAAAGCTAAA(C > T)GTATATGGAA chr6: 383546 0.978,0.02196 0.95365061162079510,0.04634938837920489 Region score:0.44; TSS score:0.41; Unmatched score:0.29; Average GERP:-0.20943119801980192 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000780402; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002350 21565293 NONHSAT143860.2 rs3813579 A N/A 3,620 european ancestry individuals; 1,290 european ancestry individuals EFO_1000627 N/A Associate Thyroid volume rs3813579-A of NONHSAT143860.2 is significantly associated with the thyroid volume by using GWAS analysis in 3,620 european ancestry individuals; 1,290 european ancestry individuals(p-value = 4E-10 ;OR = 1.32). 0.4 Genome-wide association study identifies four genetic loci associated with thyroid volume and goiter risk. genome-wide association analysis NONHSAT143860.2 lncRNA Thyroid disease 0.33 TTGAATTCGC(G > A)ATGGTCACTT chr16: 79715379 0.5278,0.4722 0.51305268858307849,0.48694731141692150 Region score:0.34; TSS score:0.34; Unmatched score:0.23; Average GERP:1.84529504950495 GeneName:LINC01229; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000260876; TranscriptID:ENST00000561510; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MAFTRR; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000261390; TranscriptID:ENST00000562921; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000543174; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002351 23251661 NONHSAT180527.1 rs2230245 A N/A 815 hispanic children from 263 families EFO_0005190 N/A Associate Obesity-related traits rs2230245-A of NONHSAT180527.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 6E-6 ;OR = 0.04). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. genome-wide association analysis NONHSAT180527.1 lncRNA Urinary nitrogen measurement 0.33 GCATCATCAC(C > T)GACCTGCAGG chr19: 50406508 0.9225,0.07748 0.91027968909276248,0.08972031090723751 Region score:0.38; TSS score:0.21; Unmatched score:0.49; Average GERP:1.4534851485148526 GeneName:POLD1; CADD-Score:5; Consquence:synonymous; GeneID:ENSG00000062822; TranscriptID:ENST00000613923; AnnoType:SYNONYMOUS; mirSVR-Score:-0.3880; mirSVR-E:-17.24 | NCRV0000002352 29773352 ANRIL rs7044859 A Recessive 200 atherothrombotic stroke cases and 205 controls EFO_1001976 N/A Increasing risk Atherothrombotic stroke rs7044859-A of ANRIL and its dysfunction is significantly associated with the increasing risk of atherothrombotic stroke by using case-control analysis in 200 atherothrombotic stroke cases and 205 controls. 0.4 The ANRIL Genetic Variants and Their Interactions with Environmental Risk Factors on Atherothrombotic Stroke in a Han Chinese Population. case-control analysis ANRIL lncRNA Cardioembolic stroke 0.33 AAATCTTGAA(T > A)AATTAGCTAT chr9: 22018782 0.3522,0.6478 0.43108913098878695,0.56891086901121304 Region score:0.28; TSS score:0.08; Unmatched score:0.06; Average GERP:0.33777499999999994 GeneName:AL359922.1; CADD-Score:2; Consquence:intron,NMD; GeneID:ENSG00000264545; TranscriptID:ENST00000404796; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CDKN2B-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000240498; TranscriptID:ENST00000428597; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002353 23453885 NONHSAT190018.1 rs159788 G N/A 6,990 european ancestry bipolar disorder cases//9,227 european ancestry major depressive disorder cases//9,379 european ancestry schizophrenia cases//161 european ancestry autism spectrum disorder cases//4,788 european ancestry autism spectrum disorder trio cases//840 european ancestry attention deficit-hyperactivity disorder cases//1,947 european ancestry attention defcit-hyperactivity disorder trio cases//27,888 european ancestry controls EFO_0000677 N/A Associate Autism spectrum disorder//attention deficit-hyperactivity disorder//bipolar disorder//major depressive disorder//and schizophrenia (combined) rs159788-G of NONHSAT190018.1 is significantly associated with the autism spectrum disorder//attention deficit-hyperactivity disorder//bipolar disorder//major depressive disorder//and schizophrenia (combined) by using GWAS analysis in 6,990 european ancestry bipolar disorder cases//9,227 european ancestry major depressive disorder cases//9,379 european ancestry schizophrenia cases//161 european ancestry autism spectrum disorder cases//4,788 european ancestry autism spectrum disorder trio cases//840 european ancestry attention deficit-hyperactivity disorder cases//1,947 european ancestry attention defcit-hyperactivity disorder trio cases//27,888 european ancestry controls(p-value = 7E-6 ;OR = 1.012). 0.4 Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis. genome-wide association analysis NONHSAT190018.1 lncRNA Mental or behavioural disorder 0.33 TAAGATCTTC(A > G)TCTCTGGGGG chr20: 4371457 0.1819,0.8181 0.15045234454638124,0.84954765545361875 Region score:0.31; TSS score:0.08; Unmatched score:0.01; Average GERP:-0.31098712871287126 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000133912; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002354 28580392 NONHSAT179210.1 rs12606715 C N/A up to 10,305 african american women EFO_0003882 N/A Associate Osteoporosis rs12606715-C of NONHSAT179210.1 is significantly associated with the osteoporosis by using GWAS analysis in up to 10,305 african american women(p-value = 8E-6 ;OR = 1.32). 0.4 A genome-wide association study meta-analysis of clinical fracture in 10,012 African American women. genome-wide association analysis NONHSAT179210.1 lncRNA Osteoporosis 0.33 CTGATGCCTT(C > A,T)CAGAGGCTTC chr18: 69243876 0.2648,.,0.7352 0.30816768603465851,0.00051764780835881,0.69131466615698267 Region score:0.38; TSS score:0.12; Unmatched score:0.01; Average GERP:0.05157920792079207 GeneName:AC090337.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000285748; TranscriptID:ENST00000649672; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002355 27325353 NONHSAT172059.1 rs1689953 T N/A 9,822 european ancestry individuals EFO_0007999 N/A Associate Lower body strength rs1689953-T of NONHSAT172059.1 is significantly associated with the lower body strength by using GWAS analysis in 9,822 european ancestry individuals(p-value = 2E-6 ;OR = 4.76). 0.4 GWAS analysis of handgrip and lower body strength in older adults in the CHARGE consortium. genome-wide association analysis NONHSAT172059.1 lncRNA Lower body strength measurement 0.33 TTTTCCTCCC(T > G)TCTCAGACAG chr15: 100689289 0.7666,0.2334 0.70298165137614678,0.29701834862385321 Region score:0.32; TSS score:0.37; Unmatched score:0.19; Average GERP:-0.515929702970297 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002356 28754779 NONHSAT003115.2 rs80076962 ? N/A 1,959 european ancestry cases//1,488 european ancestry alcohol abuse controls//4,552 european ancestry controls EFO_1002013 N/A Associate Alcoholic chronic pancreatitis rs80076962-? of NONHSAT003115.2 is significantly associated with the alcoholic chronic pancreatitis by using GWAS analysis in 1,959 european ancestry cases//1,488 european ancestry alcohol abuse controls//4,552 european ancestry controls(p-value = 8E-6 ;OR = 1.815871). 0.4 Genome-wide association study identifies inversion in the CTRB1-CTRB2 locus to modify risk for alcoholic and non-alcoholic chronic pancreatitis. genome-wide association analysis NONHSAT003115.2 lncRNA Alcoholic pancreatitis 0.33 GTTTCACAAC(A > T)TCCAAAGTTG chr1: 48082176 0.9153,0.08466 0.95400898318042813,0.04599101681957186 Region score:0.51; TSS score:0.39; Unmatched score:0.76; Average GERP:-1.2360841584158417 GeneName:AL356289.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000226133; TranscriptID:ENST00000635446; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AL356289.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000231413; TranscriptID:ENST00000455238; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000356821; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000356822; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002357 24380734 miR-26a-1 rs7372209 T N/a 103 cervical cancer cases and 417 cancer-free female subjects EFO_0001061 N/A No significance for risk Cervical cancer rs7372209-T of miR-26a-1 and its dysfunction is not significantly associated with cervical cancer by using case-control analysis in 103 cervical cancer cases and 417 cancer-free female subjects. -0.4 A genetic variant in pre-miR-27a is associated with a reduced cervical cancer risk in southern Chinese women. case-control analysis hsa-mir-26a-1 miRNA Cervical cancer -0.33 ATTAATCCTT(T > C)GTACCACGTG chr3: 37969217 0.2015,0.7985 0.21918800968399592,0.78081199031600407 Region score:0.25; TSS score:0.19; Unmatched score:0.58; Average GERP:0.42166831683168315 GeneName:CTDSPL; CADD-Score:2; Consquence:intron; GeneID:ENSG00000144677; TranscriptID:ENST00000273179; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR26A1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000199075; TranscriptID:ENST00000362205; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000682913; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002358 24124411 NONHSAT193984.1 rs80311637 A N/A 484 korean ancestry children EFO_0001421 N/A Associate Liver enzyme levels (alanine transaminase) rs80311637-A of NONHSAT193984.1 is significantly associated with the liver enzyme levels (alanine transaminase) by using GWAS analysis in 484 korean ancestry children(p-value = 7E-6 ;OR = 0.137). 0.4 Genome-wide association study of liver enzymes in korean children. genome-wide association analysis NONHSAT193984.1 lncRNA Liver disease 0.33 CGCTTGCTCA(C > T)GTCACAGCGT chr3: 64550972 0.9916,0.008387 0.99746750764525993,0.00253249235474006 Region score:0.2; TSS score:0.22; Unmatched score:0.46; Average GERP:1.3376930693069302 GeneName:ADAMTS9; CADD-Score:7; Consquence:missense; GeneID:ENSG00000163638; TranscriptID:ENST00000498707; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002359 27650483 NONHSAT160034.1 rs334 T N/A 5,458 caribbean hispanic/latino individuals//6,734 mainland hispanic/latino individuals//34 hispanic/latino individuals EFO_0007778 N/A Associate Urinary albumin-to-creatinine ratio rs334-T of NONHSAT160034.1 is significantly associated with the urinary albumin-to-creatinine ratio by using GWAS analysis in 5,458 caribbean hispanic/latino individuals//6,734 mainland hispanic/latino individuals//34 hispanic/latino individuals(p-value = 3E-10 ;OR = 0.5). 0.4 African Ancestry-Specific Alleles and Kidney Disease Risk in Hispanics/Latinos. genome-wide association analysis NONHSAT160034.1 lncRNA Urinary albumin to creatinine ratio 0.33 AGACTTCTCC(T > A,C,G)CAGGAGTCAG chr11: 5227002 0.9726,0.02736,.,. 0.94176063965341488,0.05823936034658511,.,. N/A GeneName:AC104389.6; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000285498; TranscriptID:ENST00000644706; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HBB; CADD-Score:7; Consquence:missense; GeneID:ENSG00000244734; TranscriptID:ENST00000647020; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF00621; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000221031; TranscriptID:ENST00000408104; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002360 27067015 NONHSAT177666.1 rs1187264 C N/A 91,370 european ancestry individuals//15,346 individuals EFO_0007660 N/A Associate Neuroticism rs1187264-C of NONHSAT177666.1 is significantly associated with the neuroticism by using GWAS analysis in 91,370 european ancestry individuals//15,346 individuals(p-value = 1E-8 ;OR = 0.118). 0.4 Genome-wide analysis of over 106 000 individuals identifies 9 neuroticism-associated loci. genome-wide association analysis NONHSAT177666.1 lncRNA Neuroticism measurement 0.33 CACCATGTTG(G > C)CCAGGCTGGT chr18: 37709684 0.9183,0.08167 0.91335372069317023,0.08664627930682976 Region score:0.37; TSS score:0.02; Unmatched score:0; Average GERP:0.1302970297029701 GeneName:AC009899.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000285940; TranscriptID:ENST00000649194; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002361 21829377 NONHSAT159177.1 rs174535 T N/A 8,866 european ancestry individuals EFO_0000319 N/A Associate Plasma omega-3 polyunsaturated fatty acid level (eicosapentaenoic acid) rs174535-T of NONHSAT159177.1 is significantly associated with the plasma omega-3 polyunsaturated fatty acid level (eicosapentaenoic acid) by using GWAS analysis in 8,866 european ancestry individuals(p-value = 6E-58 ;OR = 0.08). 0.4 Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium. genome-wide association analysis NONHSAT159177.1 lncRNA Cardiovascular disease 0.33 TCCCTGTCAG(T > C)AGTGGCACCC chr11: 61783884 0.6599,0.3401 0.68089799949031600,0.31910200050968399 Region score:0.3; TSS score:0.23; Unmatched score:0.42; Average GERP:2.6233049504950494 GeneName:MYRF; CADD-Score:5; Consquence:synonymous; GeneID:ENSG00000124920; TranscriptID:ENST00000278836; AnnoType:SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000040336; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TMEM258; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000134825; TranscriptID:ENST00000535042; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002362 22139419 NONHSAT180207.1 rs8109288 A N/A 13,106 european ancestry individuals//1,652 val borbera (founder/genetic isolate) individuals//593 carlantino (founder/genetic isolate) individuals//1,146 friuli venezia giulia (founder/genetic isolate) individuals//1,213 south tyrolean (founder/genetic isolate) individuals//890 sorbian (founder/genetic isolate) individuals; up to 16,960 european ancestry individuals//855 cliento (founder/genetic isolate) individuals//1,023 talana (founder/genetic isolate) individuals EFO_0004584 N/A Associate Mean platelet volume rs8109288-A of NONHSAT180207.1 is significantly associated with the mean platelet volume by using GWAS analysis in 13,106 european ancestry individuals//1,652 val borbera (founder/genetic isolate) individuals//593 carlantino (founder/genetic isolate) individuals//1,146 friuli venezia giulia (founder/genetic isolate) individuals//1,213 south tyrolean (founder/genetic isolate) individuals//890 sorbian (founder/genetic isolate) individuals; up to 16,960 european ancestry individuals//855 cliento (founder/genetic isolate) individuals//1,023 talana (founder/genetic isolate) individuals(p-value = 1E-11 ;OR = 0.029). 0.4 New gene functions in megakaryopoiesis and platelet formation. genome-wide association analysis NONHSAT180207.1 lncRNA Mean platelet volume 0.451 GGGGCTGTCT(G > A)CCCACCCTGG chr19: 16074749 0.9667,0.03335 0.95987034913353720,0.04012965086646279 Region score:0.21; TSS score:0.22; Unmatched score:0.47; Average GERP:-0.21441188118811877 GeneName:AC008894.3; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000279198; TranscriptID:ENST00000624324; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TPM4; CADD-Score:2; Consquence:intron; GeneID:ENSG00000167460; TranscriptID:ENST00000646974; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002362 22423221 NONHSAT180207.1 rs8109288 G N/A 16,388 african american individuals EFO_0004584 N/A Associate Mean platelet volume rs8109288-G of NONHSAT180207.1 is significantly associated with the mean platelet volume by using GWAS analysis in 16,388 african american individuals(p-value = 3E-9 ;OR = 0.26). 0.4 A meta-analysis and genome-wide association study of platelet count and mean platelet volume in african americans. genome-wide association analysis NONHSAT180207.1 lncRNA Mean platelet volume 0.451 GGGGCTGTCT(G > A)CCCACCCTGG chr19: 16074749 0.9667,0.03335 0.95987034913353720,0.04012965086646279 Region score:0.21; TSS score:0.22; Unmatched score:0.47; Average GERP:-0.21441188118811877 GeneName:AC008894.3; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000279198; TranscriptID:ENST00000624324; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TPM4; CADD-Score:2; Consquence:intron; GeneID:ENSG00000167460; TranscriptID:ENST00000646974; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002363 26634245 NONHSAT164173.1 rs75311705 A N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs75311705-A of NONHSAT164173.1 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 3E-7 ;OR = 0.56). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT164173.1 lncRNA Pulmonary function measurement 0.33 GGAACAGGGC(G > A)GAGGATGGTT chr12: 125230050 0.9726,0.02736 0.99320686799184505,0.00679313200815494 Region score:0.34; TSS score:0.24; Unmatched score:0.12; Average GERP:-0.4664514851485148 GeneName:TMEM132B; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000139364; TranscriptID:ENST00000418253; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002364 27328823 mir-647 rs73147065 C N/A 17,008 AD cases and 37,154 controls EFO_0000249 N/A decreasing risk Alzheimer's disease rs73147065-C of hsa-mir-647 and its dysfunction is significantly associated with the decreasing risk of Alzheimers disease by using case-control analysis in 17,008 AD cases and 37,154 controls 0.4 Genome-wide identification of microRNA-related variants associated with risk of Alzheimer's disease. case-control analysis hsa-mir-647 miRNA Alzheimers disease 0.33 GCCCTGCCTG(A > C,G)CCCTCCCTCC chr20: 63942653 0.7694,.,0.2306 0.74359709480122324,0.00762136850152905,0.24878153669724770 Region score:0.28; TSS score:0.28; Unmatched score:0.71; Average GERP:-1.5528940594059402 GeneName:MIR1914; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284433; TranscriptID:ENST00000607800; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR647; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207554; TranscriptID:ENST00000384823; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000657889; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:UCKL1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000198276; TranscriptID:ENST00000354216; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002365 23509613 NONHSAT173338.1 rs8060581 ? N/A 183 european ancestry acl-positive cases//487 european ancestry acl-negative controls//127 european ancestry lac-positive cases//581 european ancestry lac-negative controls//136 european ancestry anti-b2gpi-positive cases//360 european ancestry anti-b2gpi-negative controls EFO_0005200 N/A Associate Presence of antiphospholipid antibodies rs8060581-? of NONHSAT173338.1 is significantly associated with the presence of antiphospholipid antibodies by using GWAS analysis in 183 european ancestry acl-positive cases//487 european ancestry acl-negative controls//127 european ancestry lac-positive cases//581 european ancestry lac-negative controls//136 european ancestry anti-b2gpi-positive cases//360 european ancestry anti-b2gpi-negative controls(p-value = 1E-6 ;OR = 6.714). 0.4 Genome-wide association study of antiphospholipid antibodies. genome-wide association analysis NONHSAT173338.1 lncRNA Antiphospholipid antibody measurement 0.33 TCATTGTTCT(G > C)TGGAAATATC chr16: 80158708 0.773,0.227 0.83268826452599388,0.16731173547400611 Region score:0.29; TSS score:0.41; Unmatched score:0.24; Average GERP:-1.5631256435643572 GeneName:AC022166.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000260706; TranscriptID:ENST00000567851; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC105411.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000259867; TranscriptID:ENST00000565050; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000543288; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002366 28416818 NONHSAT150035.1 rs520525 A N/A 15,979 european ancestry cases//102,776 european ancestry controls//641 african american cases//5,234 african american controls//837 japanese ancestry cases//3,293 japanese controls//277 hispanic cases//3,081 hispanic controls,197 brazilian ancestry cases//758 brazilian ancestry controls.; 8,180 japanese ancestry cases//28,612 japanese ancestry controls. EFO_0000275 N/A Associate Atrial fibrillation rs520525-A of NONHSAT150035.1 is significantly associated with the atrial fibrillation by using GWAS analysis in 15,979 european ancestry cases//102,776 european ancestry controls//641 african american cases//5,234 african american controls//837 japanese ancestry cases//3,293 japanese controls//277 hispanic cases//3,081 hispanic controls,197 brazilian ancestry cases//758 brazilian ancestry controls.; 8,180 japanese ancestry cases//28,612 japanese ancestry controls.(p-value = 6E-16 ;OR = 1.12). 0.4 Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation. genome-wide association analysis NONHSAT150035.1 lncRNA Atrial fibrillation 0.33 ACCCACCCCC(A > C,G)TGTTTCAGAG chr1: 170669192 0.7139,.,0.2861 0.74693393221202854,.,0.25306606778797145 Region score:0.32; TSS score:0.33; Unmatched score:0.41; Average GERP:-1.4993762376237616 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000255255; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PRRX1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000116132; TranscriptID:ENST00000239461; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:Z97200.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000271811; TranscriptID:ENST00000606154; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002367 27015805 NONHSAT201047.1 rs113082832 ? N/A 45,627 middle-aged british individuals EFO_0007796 N/A Associate Parental longevity (combined parental age at death) rs113082832-? of NONHSAT201047.1 is significantly associated with the parental longevity (combined parental age at death) by using GWAS analysis in 45,627 middle-aged british individuals(p-value = 5E-6 ;OR = 0.074566). 0.4 Human longevity is influenced by many genetic variants: evidence from 75,000 UK Biobank participants. genome-wide association analysis NONHSAT201047.1 lncRNA Parental longevity 0.33 ATTCATTCAA(C > G)AAACACTGTG chr4: 25441982 0.975,0.02496 0.95821387614678899,0.04178612385321100 Region score:0.32; TSS score:0.18; Unmatched score:0.06; Average GERP:-0.3346128712871286 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000309298; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000719927; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002368 26252872 NONHSAT184170.1 rs62106697 G N/A 472 european ancestry cases//47 cases HP_0100543 N/A Associate Cognitive decline rate in late mild cognitive impairment rs62106697-G of NONHSAT184170.1 is significantly associated with the cognitive decline rate in late mild cognitive impairment by using GWAS analysis in 472 european ancestry cases//47 cases(p-value = 1E-7 ;OR = 0.7245). 0.4 Variations in the FRA10AC1 Fragile Site and 15q21 Are Associated with Cerebrospinal Fluid Abeta1-42 Level. genome-wide association analysis NONHSAT184170.1 lncRNA Cognitive impairment 0.33 CCTCCTGCAG(G > A,T)GTCATTACAG chr2: 8520648 0.9934,.,0.006589 0.98359454638124362,0.00005574668705402,0.01634970693170234 Region score:0.36; TSS score:0.3; Unmatched score:0.16; Average GERP:-1.5781346534653466 GeneName:LINC01814; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000236008; TranscriptID:ENST00000650238; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002369 24816252 NONHSAT206686.1 rs9392556 T N/A 7,824 european ancestry individuals EFO_0005664 N/A Associate Blood metabolite levels rs9392556-T of NONHSAT206686.1 is significantly associated with the blood metabolite levels by using GWAS analysis in 7,824 european ancestry individuals(p-value = 4E-38 ;OR = 0.036). 0.4 An atlas of genetic influences on human blood metabolites. genome-wide association analysis NONHSAT206686.1 lncRNA Blood metabolite measurement 0.33 GTTTCAGCTT(T > C)TCTGTGACTG chr6: 4145964 0.7021,0.2979 0.67274305555555555,0.32725694444444444 Region score:0.22; TSS score:0.15; Unmatched score:0.34; Average GERP:0.2598178217821782 GeneName:AL136309.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000234817; TranscriptID:ENST00000427049; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AL136309.4; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000254821; TranscriptID:ENST00000527831; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002370 20953188 NONHSAT203488.1 rs2546890 A N/A 472 european ancestry cases//1,146 european ancestry controls; 2,668//european ancestry cases//762 french canadian founder population cases//2,585 cases//3,485 european ancestry controls//994 french canadian founder population controls//2,412 controls EFO_0000676 N/A Associate Psoriasis rs2546890-A of NONHSAT203488.1 is significantly associated with the psoriasis by using GWAS analysis in 472 european ancestry cases//1,146 european ancestry controls; 2,668//european ancestry cases//762 french canadian founder population cases//2,585 cases//3,485 european ancestry controls//994 french canadian founder population controls//2,412 controls(p-value = 1E-20 ;OR = 1.54). 0.4 Genome-wide association study identifies a psoriasis susceptibility locus at TRAF3IP2. genome-wide association analysis NONHSAT203488.1 lncRNA Psoriasis 0.451 TTGTCTTCCC(A > G)CAGTGAAATC chr5: 159332892 0.4403,0.5597 0.46180555555555555,0.53819444444444444 Region score:0.48; TSS score:0.6; Unmatched score:0.79; Average GERP:-0.8423178217821782 GeneName:AC008691.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000249738; TranscriptID:ENST00000515337; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.5686; mirSVR-E:-14.97 | GeneName:IL12B; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000113302; TranscriptID:ENST00000231228; AnnoType:UPSTREAM; mirSVR-Score:-0.5686; mirSVR-E:-14.97 | NCRV0000002370 25574825 NONHSAT203488.1 rs2546890 ? N/A 2,079 european ancestry atopic dermatitis cases//4,212 european ancestry psoriasis cases//11,899 european ancestry controls EFO_0000676 N/A Associate Inflammatory skin disease rs2546890-? of NONHSAT203488.1 is significantly associated with the inflammatory skin disease by using GWAS analysis in 2,079 european ancestry atopic dermatitis cases//4,212 european ancestry psoriasis cases//11,899 european ancestry controls(p-value = 3E-35 ;OR = 1.39). 0.4 Genome-wide comparative analysis of atopic dermatitis and psoriasis gives insight into opposing genetic mechanisms. genome-wide association analysis NONHSAT203488.1 lncRNA Psoriasis 0.451 TTGTCTTCCC(A > G)CAGTGAAATC chr5: 159332892 0.4403,0.5597 0.46180555555555555,0.53819444444444444 Region score:0.48; TSS score:0.6; Unmatched score:0.79; Average GERP:-0.8423178217821782 GeneName:AC008691.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000249738; TranscriptID:ENST00000515337; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.5686; mirSVR-E:-14.97 | GeneName:IL12B; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000113302; TranscriptID:ENST00000231228; AnnoType:UPSTREAM; mirSVR-Score:-0.5686; mirSVR-E:-14.97 | NCRV0000002371 28206970 lnc-JAM2-6 rs2829145 C Dominant Two-stage (exploratory, n = 96 and replication, n = 390) EFO_0003095 N/A Increasing risk Nonalcoholic fatty liver disease rs2829145-C of lnc-JAM2-6 and its dysfunction is significantly associated with the increasing risk of nonalcoholic fatty liver disease by using case-control analysis in two-stage (exploratory, n = 96 and replication, n = 390). 0.4 Genetic variation in long noncoding RNAs and the risk of nonalcoholic fatty liver disease. case-control analysis lnc-JAM2-6 lncRNA Non-alcoholic fatty liver disease 0.33 AATGAGGCAC(G > A)GAGATTGCCA chr21: 24495924 0.8171,0.1829 0.87844833078491335,0.12155166921508664 Region score:0.29; TSS score:0.28; Unmatched score:0.04; Average GERP:-0.9238217821782178 GeneName:LINC01684; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000237484; TranscriptID:ENST00000415182; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002372 23382691 NONHSAT018325.2 rs7111562 C N/A 2,247 european ancestry individuals EFO_0002690 N/A Associate Igg glycosylation rs7111562-C of NONHSAT018325.2 is significantly associated with the igg glycosylation by using GWAS analysis in 2,247 european ancestry individuals(p-value = 2E-6 ;OR = 0.2255). 0.4 Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. genome-wide association analysis NONHSAT018325.2 lncRNA Systemic lupus erythematosus 0.33 TAAGTTATCA(T > C)AGTGATACAG chr11: 19030325 0.8462,0.1538 0.85024050713557594,0.14975949286442405 Region score:0.44; TSS score:0.2; Unmatched score:0.47; Average GERP:-1.5741326732673264 GeneName:AC027026.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000255424; TranscriptID:ENST00000532323; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002373 22659075 miRNA-499 rs3746444 G N/A 107 patients with moyamoya disease and 240 healthy controls Orphanet_2573 N/A no significance for risk Moyamoya disease rs3746444-G of hsa-mir-499a and its dysfunction is not significantly associated with Moyamoya disease by using case-control analysis in 107 patients with moyamoya disease and 240 healthy controls -0.4 Association of the miR-146aC>G, miR-196a2C>T, and miR-499A>G polymorphisms with moyamoya disease in the Korean population. case-control analysis hsa-mir-499a miRNA Moyamoya disease -0.33 CCACGTGAAC(A > G)TCACAGCAAG chr20: 34990448 0.8165,0.1835 0.81708715596330275,0.18291284403669724 Region score:0.79; TSS score:0.85; Unmatched score:0.95; Average GERP:3.757564356435645 GeneName:MIR499A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207635; TranscriptID:ENST00000384903; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR499B; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283441; TranscriptID:ENST00000636498; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYH7B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000078814; TranscriptID:ENST00000262873; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002374 22778062 SNORD116-4 rs2732022 A N/a N/a function N/A Not significant changes in the structure Function rs2732022-A of SNORD116-4 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD116-4 snoRNA Function -0.049 CGGAACTGAG(G > A)TCCAGCGCGT chr15: 25059630 0.9549,0.04513 0.93700624362895005,0.06299375637104994 Region score:0.52; TSS score:0.29; Unmatched score:0.51; Average GERP:0.10565188118811897 GeneName:SNHG14; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000224078; TranscriptID:ENST00000640631; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.5343; mirSVR-E:-19.96 | GeneName:SNORD116-3; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207014; TranscriptID:ENST00000384287; AnnoType:DOWNSTREAM; mirSVR-Score:-0.5343; mirSVR-E:-19.96 | GeneName:SNORD116-4; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000275529; TranscriptID:ENST00000384733; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.5343; mirSVR-E:-19.96 | GeneName:SNORD116-5; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207191; TranscriptID:ENST00000384462; AnnoType:UPSTREAM; mirSVR-Score:-0.5343; mirSVR-E:-19.96 | NCRV0000002375 26152337 hsa-mir-603 rs11014002 T N/a 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs11014002-T of hsa-mir-603 and its dysfunction is not significantly associated with hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors. -0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. case-control analysis hsa-mir-603 miRNA Hepatocellular cancer -0.33 AATTGCAGTG(C > A,T)TTCCCATTTA chr10: 24275724 0.9163,.,0.08367 0.94849006116207951,.,0.05150993883792048 Region score:0.38; TSS score:0.02; Unmatched score:0.33; Average GERP:-0.2897840594059408 GeneName:KIAA1217; CADD-Score:2; Consquence:intron; GeneID:ENSG00000120549; TranscriptID:ENST00000376454; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR603; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207930; TranscriptID:ENST00000385195; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002376 26502338 NONHSAT159978.1 rs12802200 C N/A 5,201 european ancestry cases//9,066 european ancestry controls; 2,018 european ancestry cases//6,925 european ancestry controls EFO_0002690 N/A Associate Systemic lupus erythematosus rs12802200-C of NONHSAT159978.1 is significantly associated with the systemic lupus erythematosus by using GWAS analysis in 5,201 european ancestry cases//9,066 european ancestry controls; 2,018 european ancestry cases//6,925 european ancestry controls(p-value = 9E-10 ;OR = 1.23). 0.4 Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus. genome-wide association analysis NONHSAT159978.1 lncRNA Systemic lupus erythematosus 0.33 CCACACCCGG(C > A)CTCTCACTGG chr11: 566936 0.845,0.155 0.79270992609582059,0.20729007390417940 Region score:0.28; TSS score:0.42; Unmatched score:0.65; Average GERP:-0.6884752475247526 GeneName:MIR210; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000199038; TranscriptID:ENST00000362168; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR210HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000247095; TranscriptID:ENST00000500447; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RASSF7; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000099849; TranscriptID:ENST00000397583; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002377 29059683 NONHSAT155559.1 rs35419901 T N/A 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls EFO_0000305 N/A Associate Breast cancer rs35419901-T of NONHSAT155559.1 is significantly associated with the breast cancer by using GWAS analysis in 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls(p-value = 8E-11 ;OR = 0.1123). 0.4 Association analysis identifies 65 new breast cancer risk loci. genome-wide association analysis NONHSAT155559.1 lncRNA Breast cancer 0.33 GCTATGAAAC(A > T)CTGTCTATTA chr10: 62303692 0.9896,0.01038 0.97622801987767584,0.02377198012232415 Region score:0.43; TSS score:0.14; Unmatched score:0.27; Average GERP:-0.016597029702970334 GeneName:AC024597.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000234756; TranscriptID:ENST00000442753; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002378 28604730 NONHSAT130430.2 rs62560775 G N/A 11,273 european ancestry cases// 55,483 european ancestry controls EFO_0000571 N/A Associate Lung adenocarcinoma rs62560775-G of NONHSAT130430.2 is significantly associated with the lung adenocarcinoma by using GWAS analysis in 11,273 european ancestry cases// 55,483 european ancestry controls(p-value = 2E-9 ;OR = 1.1804289). 0.4 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. genome-wide association analysis NONHSAT130430.2 lncRNA Lung adenocancer 0.33 GAAACTCCAC(A > G)TTCTCATTTC chr9: 22052069 0.8347,0.1653 0.87561321355759429,0.12438678644240570 Region score:0.37; TSS score:0.26; Unmatched score:0.29; Average GERP:0.1960583861386139 GeneName:CDKN2B-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000240498; TranscriptID:ENST00000428597; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002379 28636993 circ-ITCH rs4911154 A Dominant 1,600 HCC cases and 1,800 cancer-free controls EFO_0000182 N/A increasing risk hepatocellular carcinoma rs4911154-A of circ-ITCH and its dysfunction is significantly associated with the increasing risk of Hepatocellular carcinoma by using case-control analysis in 1,600 HCC cases and 1,800 cancer-free controls 0.4 Polymorphisms and expression pattern of circular RNA circ-ITCH contributes to the carcinogenesis of hepatocellular carcinoma. case-control analysis circ-ITCH circRNA Hepatocellular carcinoma 0.33 ATTGGTCTTC(G > A)ACTACTGAGC chr20: 34408295 0.8177,0.1823 0.84414819062181447,0.15585180937818552 Region score:0.36; TSS score:0.16; Unmatched score:0.18; Average GERP:0.05648514851485155 GeneName:ITCH; CADD-Score:2; Consquence:intron; GeneID:ENSG00000078747; TranscriptID:ENST00000262650; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000136410; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002380 28928442 NONHSAT207095.1 rs150180633 ? N/A 4,426 european ancestry cases//84,290 european ancestry controls EFO_0008407 N/A Associate Tuberculosis rs150180633-? of NONHSAT207095.1 is significantly associated with the tuberculosis by using GWAS analysis in 4,426 european ancestry cases//84,290 european ancestry controls(p-value = 4E-14 ;OR = 0.3518). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. genome-wide association analysis NONHSAT207095.1 lncRNA Susceptibility to mycobacterium tuberculosis infection measurement 0.33 CCACCGTGCC(C > T)GGCCTGTTTT chr6: 31042270 0.9694,0.03055 0.98183454383282364,0.01816545616717635 Region score:0.12; TSS score:0.12; Unmatched score:0.02; Average GERP:0.1439791666666668 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002381 28199695 NONHSAT098201.2 rs55665660 T N/A 69,057 european ancestry individuals without immune related conditions EFO_0008377 N/A Associate Itch intensity from mosquito bite adjusted by bite size rs55665660-T of NONHSAT098201.2 is significantly associated with the itch intensity from mosquito bite adjusted by bite size by using GWAS analysis in 69,057 european ancestry individuals without immune related conditions(p-value = 6E-7 ;OR = 0.0434329). 0.4 GWAS of self-reported mosquito bite size, itch intensity and attractiveness to mosquitoes implicates immune-related predisposition loci. genome-wide association analysis NONHSAT098201.2 lncRNA Mosquito bite reaction itch intensity measurement 0.33 CTTAAGTTTT(T > C)GAACTTTCTT chr4: 123865108 0.9706,0.02935 0.96889334862385321,0.03110665137614678 Region score:0.54; TSS score:0.25; Unmatched score:0.52; Average GERP:-0.05462673267326735 GeneName:AC093767.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000250458; TranscriptID:ENST00000504523; AnnoType:UPSTREAM; mirSVR-Score:-0.6169; mirSVR-E:-6.73 | GeneName:LINC01091; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000249464; TranscriptID:ENST00000515769; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.6169; mirSVR-E:-6.73 | NCRV0000002382 26390057 NONHSAT186864.1 rs7604423 C N/A 31,516 east asian ancestry individuals// 35,352 european ancestry individuals//33,126 south asian ancestry individuals; 87,205 individuals//48,268 east asian ancestry individuals//68,456 european ancestry individuals//16,328 south asian ancestry individuals EFO_0006336 N/A Associate Diastolic blood pressure rs7604423-C of NONHSAT186864.1 is significantly associated with the diastolic blood pressure by using GWAS analysis in 31,516 east asian ancestry individuals// 35,352 european ancestry individuals//33,126 south asian ancestry individuals; 87,205 individuals//48,268 east asian ancestry individuals//68,456 european ancestry individuals//16,328 south asian ancestry individuals(p-value = 2E-8 ;OR = 0.2093915). 0.4 Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation. genome-wide association analysis NONHSAT186864.1 lncRNA Diastolic blood pressure 0.33 AGACAGAGAC(G > A,C)TCTGTGTACC chr2: 43155602 0.2762,.,0.7238 0.29175426860346585,0.00246081804281345,0.70578491335372069 Region score:0.29; TSS score:0.42; Unmatched score:0.22; Average GERP:-0.25985643564356437 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002383 27863252 NONHSAT199245.1 rs12505188 C N/A 171,529 european ancestry individuals EFO_0005192 N/A Associate Red cell distribution width rs12505188-C of NONHSAT199245.1 is significantly associated with the red cell distribution width by using GWAS analysis in 171,529 european ancestry individuals(p-value = 1E-9 ;OR = 0.02205701). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT199245.1 lncRNA Red blood cell distribution width 0.33 AAGGCTGAGG(T > C)GGGCCGATCA chr4: 152741087 0.5657,0.4343 0.62723783129459734,0.37276216870540265 Region score:0.27; TSS score:0.19; Unmatched score:0.03; Average GERP:-0.18851485148514865 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002384 26821981 NONHSAT184552.1 rs698761 G N/A up to 39 european ancestry schizophrenia cases//up to 40 european ancestry schizoaffective cases EFO_0000692 antipsychotic drug Associate Antipsychotic drug dosage in schizophrenia or schizoaffective disorder rs698761-G of NONHSAT184552.1 is significantly associated with the antipsychotic drug dosage in schizophrenia or schizoaffective disorder by using GWAS analysis in up to 39 european ancestry schizophrenia cases//up to 40 european ancestry schizoaffective cases(p-value = 5E-6 ;OR = 0.2023). 0.4 Genome-wide association analysis to predict optimal antipsychotic dosage in schizophrenia: a pilot study. genome-wide association analysis NONHSAT184552.1 lncRNA Schizophrenia 0.33 CCGCTAAAAT(G > A,C)AGAATAAGGT chr2: 44320435 0.5391,0.4609,. 0.47779689092762487,0.52211550713557594,0.00008760193679918 Region score:0.36; TSS score:0.65; Unmatched score:0.7; Average GERP:-0.09499405940594066 GeneName:AC013717.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000285542; TranscriptID:ENST00000649044; AnnoType:DOWNSTREAM; mirSVR-Score:-0.6786; mirSVR-E:-10.80 | GeneName:PREPL; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000138078; TranscriptID:ENST00000409936; AnnoType:3PRIME_UTR; mirSVR-Score:-0.6786; mirSVR-E:-10.80 | GeneName:SLC3A1; CADD-Score:7; Consquence:missense; GeneID:ENSG00000138079; TranscriptID:ENST00000260649; AnnoType:NON_SYNONYMOUS; mirSVR-Score:-0.6786; mirSVR-E:-10.80 | NCRV0000002385 26833246 NONHSAT186577.1 rs6755502 C N/A up to 31,457 european ancestry men//up to 35,030 european ancestry women//up to 8,259 indian asian ancestry men//up to 1,030 indian asian ancestry women//973 korean ancestry men//1,360 korean ancestry women//154 african american men//262 african american women; up to 12,480 european ancestry men//up to 10,055 european ancestry women//315 jamaican ancestry men//774 jamaican ancestry women EFO_0001073 N/A Associate Body fat percentage rs6755502-C of NONHSAT186577.1 is significantly associated with the body fat percentage by using GWAS analysis in up to 31,457 european ancestry men//up to 35,030 european ancestry women//up to 8,259 indian asian ancestry men//up to 1,030 indian asian ancestry women//973 korean ancestry men//1,360 korean ancestry women//154 african american men//262 african american women; up to 12,480 european ancestry men//up to 10,055 european ancestry women//315 jamaican ancestry men//774 jamaican ancestry women(p-value = 1E-10 ;OR = 0.039). 0.4 New loci for body fat percentage reveal link between adiposity and cardiometabolic disease risk. genome-wide association analysis NONHSAT186577.1 lncRNA Obesity 0.33 TATAATCCTC(T > C)TATTGACGGT chr2: 635721 0.1224,0.8776 0.14733053007135575,0.85266946992864424 Region score:0.29; TSS score:0.36; Unmatched score:0.16; Average GERP:-0.28546950495049506 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002386 23563607 NONHSAT195785.1 rs2564921 T N/A 8,097 european ancestry tall individuals//8,099 european ancestry short individuals; 4,872 european ancestry tall individuals//4,831 european ancestry short individuals EFO_0004339 N/A Associate Height rs2564921-T of NONHSAT195785.1 is significantly associated with the height by using GWAS analysis in 8,097 european ancestry tall individuals//8,099 european ancestry short individuals; 4,872 european ancestry tall individuals//4,831 european ancestry short individuals(p-value = 2E-12 ;OR = 1.15). 0.4 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. genome-wide association analysis NONHSAT195785.1 lncRNA Body height 0.33 AATTAAGATA(T > C)AGTTTGTTGG chr3: 53091569 0.5096,0.4904 0.51482065494393476,0.48517934505606523 Region score:0.27; TSS score:0.56; Unmatched score:0.59; Average GERP:0.06278217821782182 GeneName:AC096887.1; CADD-Score:2; Consquence:intron,NMD; GeneID:ENSG00000272305; TranscriptID:ENST00000607283; AnnoType:INTRONIC; mirSVR-Score:-0.4389; mirSVR-E:-9.30 | GeneName:RFT1; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000163933; TranscriptID:ENST00000296292; AnnoType:3PRIME_UTR; mirSVR-Score:-0.4389; mirSVR-E:-9.30 | NCRV0000002387 28928442 NONHSAT055010.2 rs8082454 ? N/A 38,219 european ancestry cases//47,279 european ancestry controls EFO_0008414 N/A Associate Measles rs8082454-? of NONHSAT055010.2 is significantly associated with the measles by using GWAS analysis in 38,219 european ancestry cases//47,279 european ancestry controls(p-value = 8E-6 ;OR = 0.1035). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. genome-wide association analysis NONHSAT055010.2 lncRNA Susceptibility to measles measurement 0.33 TATATATATA(G > T)AGAGAGAGAG chr17: 59363163 0.6853,0.3147 0.72456358307849133,0.27543641692150866 Region score:0.3; TSS score:0.23; Unmatched score:0.22; Average GERP:-0.20117029702970307 GeneName:AC091059.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000278863; TranscriptID:ENST00000623355; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR4729; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000263857; TranscriptID:ENST00000584140; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:YPEL2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000175155; TranscriptID:ENST00000312655; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002388 26192919 NONHSAT157380.1 rs71485777 ? N/A 5,956 european ancestry cases//14,927 european ancestry controls; 14,594 european ancestry cases//26,715 european ancestry controls//151 iranian ancestry cases//342 iranian ancestry controls//184 indian ancestry cases//990 indian ancestry controls//1,690 east asian ancestry cases//3,719 east asian ancestry controls EFO_0000384 N/A Associate Crohn's disease rs71485777-? of NONHSAT157380.1 is significantly associated with the crohn's disease by using GWAS analysis in 5,956 european ancestry cases//14,927 european ancestry controls; 14,594 european ancestry cases//26,715 european ancestry controls//151 iranian ancestry cases//342 iranian ancestry controls//184 indian ancestry cases//990 indian ancestry controls//1,690 east asian ancestry cases//3,719 east asian ancestry controls(p-value = 1E-36 ;OR = ?). 0.4 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. genome-wide association analysis NONHSAT157380.1 lncRNA Crohn's disease 0.33 CAAGGCAGCT(TCCC > TGCA)CCCGTCAATC chr10: 99523570 N/A RS=71485777;RSPOS=99523571;RV;dbSNPBuildID=130;SSR=0;SAO=0;VP=0x050120000005000102020800;WGT=1;VC=MNV;PM;SLO;ASP;GNO;MTP N/A N/A NCRV0000002389 18839057 NONHSAT089138.2 rs864643 ? N/A 343 european ancestry cases//250 european ancestry controls//54 controls EFO_0003888 N/A Associate Attention deficit hyperactivity disorder rs864643-? of NONHSAT089138.2 is significantly associated with the attention deficit hyperactivity disorder by using GWAS analysis in 343 european ancestry cases//250 european ancestry controls//54 controls(p-value = 1E-8 ;OR = ?). 0.4 Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies. genome-wide association analysis NONHSAT089138.2 lncRNA Attention deficit hyperactivity disorder 0.33 CCAACGAATT(A > G)TGTCAGAAGC chr3: 39514089 0.6823,0.3177 0.67152459225280326,0.32847540774719673 Region score:0.32; TSS score:0.72; Unmatched score:0.69; Average GERP:-0.39542079207920794 GeneName:MOBP; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000168314; TranscriptID:ENST00000311042; AnnoType:3PRIME_UTR; mirSVR-Score:-0.0218; mirSVR-E:-9.71 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000151104; AnnoType:REGULATORY; mirSVR-Score:-0.0218; mirSVR-E:-9.71 | NCRV0000002390 23918034 NONHSAT087096.2 rs13058467 C N/A 88 european ancestry cases//580 european ancestry controls EFO_0005321 N/A Associate Molar-incisor hypomineralization rs13058467-C of NONHSAT087096.2 is significantly associated with the molar-incisor hypomineralization by using GWAS analysis in 88 european ancestry cases//580 european ancestry controls(p-value = 4E-7 ;OR = 4.4). 0.4 Genome-wide association study (GWAS) for molar-incisor hypomineralization (MIH). genome-wide association analysis NONHSAT087096.2 lncRNA Molar-incisor hypomineralization 0.33 GCACAGCTCG(T > C)TCCCCGGGTT chr22: 43183043 0.9503,0.04972 0.91102032364933741,0.08897967635066258 Region score:0.17; TSS score:0.3; Unmatched score:0.62; Average GERP:1.5760425742574278 GeneName:TTLL12; CADD-Score:7; Consquence:missense; GeneID:ENSG00000100304; TranscriptID:ENST00000216129; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002391 23728906 NONHSAT173674.1 rs4780805 A N/A 2,278 european ancestry individuals EFO_0008568 N/A Associate Sleep duration rs4780805-A of NONHSAT173674.1 is significantly associated with the sleep duration by using GWAS analysis in 2,278 european ancestry individuals(p-value = 8E-7 ;OR = 0.19). 0.4 A genome-wide association study of sleep habits and insomnia. genome-wide association analysis NONHSAT173674.1 lncRNA Sleep disorder 0.33 TCTTAAGTGC(A > G,T)GACTTTTGCT chr16: 19393323 0.129,0.871,. 0.10645228083588175,0.87196578746177370,0.02158193170234454 Region score:0.27; TSS score:0.28; Unmatched score:0.25; Average GERP:0.0727227722772279 GeneName:AC130456.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000259925; TranscriptID:ENST00000563613; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC130456.7; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000280265; TranscriptID:ENST00000623838; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002392 21378990 NONHSAT208057.1 rs12190287 C N/A 22,233 european ancestry cases//64,762 european ancestry controls; 56,682 european ancestry cases and controls EFO_0001645 N/A Associate Coronary heart disease rs12190287-C of NONHSAT208057.1 is significantly associated with the coronary heart disease by using GWAS analysis in 22,233 european ancestry cases//64,762 european ancestry controls; 56,682 european ancestry cases and controls(p-value = 1E-12 ;OR = 1.08). 0.4 Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. genome-wide association analysis NONHSAT208057.1 lncRNA Coronary heart disease 0.33 ACTTCGGTGA(C > G,T)TTCATCCACC chr6: 133893387 0.6619,0.3381,. 0.70345948012232415,0.29426286952089704,0.00227765035677879 Region score:0.41; TSS score:0.79; Unmatched score:0.83; Average GERP:-1.0016544554455442 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000806026; AnnoType:REGULATORY; mirSVR-Score:-0.1666; mirSVR-E:-14.74 | GeneName:TARID; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000227954; TranscriptID:ENST00000630728; AnnoType:UPSTREAM; mirSVR-Score:-0.1666; mirSVR-E:-14.74 | GeneName:TCF21; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000118526; TranscriptID:ENST00000367882; AnnoType:3PRIME_UTR; mirSVR-Score:-0.1666; mirSVR-E:-14.74 | NCRV0000002393 27863252 NONHSAT175610.1 rs8079549 T N/A 171,748 european ancestry individuals EFO_0007993 N/A Associate Lymphocyte percentage of white cells rs8079549-T of NONHSAT175610.1 is significantly associated with the lymphocyte percentage of white cells by using GWAS analysis in 171,748 european ancestry individuals(p-value = 5E-9 ;OR = 0.02117945). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT175610.1 lncRNA Lymphocyte percentage of leukocytes 0.33 CTGCCTGCCT(G > T)CCTTCCTTCT chr17: 75070887 0.2969,0.7031 0.39919406218144750,0.60080593781855249 Region score:0.13; TSS score:0.22; Unmatched score:0.16; Average GERP:0.08744444444444445 GeneName:KCTD2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180901; TranscriptID:ENST00000375286; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TRIM80P; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000232724; TranscriptID:ENST00000455685; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002394 27863252 NONHSAT220969.1 rs61750929 T N/A 171,542 european ancestry individuals EFO_0007990 N/A Associate Neutrophil percentage of white cells rs61750929-T of NONHSAT220969.1 is significantly associated with the neutrophil percentage of white cells by using GWAS analysis in 171,542 european ancestry individuals(p-value = 5E-14 ;OR = 0.05865074). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT220969.1 lncRNA Neutrophil percentage of leukocytes 0.33 TATGTCCCCA(C > A,T)GTGAGTCAGT chr9: 88880220 0.9764,.,0.02356 0.95650165647298674,.,0.04349834352701325 Region score:0.36; TSS score:0.14; Unmatched score:0.07; Average GERP:0.005776237623762399 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000885892; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002395 20526338 NONHSAT156108.1 rs869244 A N/A up to 3,991 european ancestry individuals; up to 840 african american individuals GO_0070527 N/A Associate Platelet aggregation rs869244-A of NONHSAT156108.1 is significantly associated with the platelet aggregation by using GWAS analysis in up to 3,991 european ancestry individuals; up to 840 african american individuals(p-value = 3E-12 ;OR = ?). 0.4 Genome-wide meta-analyses identifies seven loci associated with platelet aggregation in response to agonists. genome-wide association analysis NONHSAT156108.1 lncRNA N/a 0.33 TTCTCTTTCC(G > A)TGTGTTTATA chr10: 111149347 0.6186,0.3814 0.63226299694189602,0.36773700305810397 Region score:0.28; TSS score:0.15; Unmatched score:0.04; Average GERP:0.21484848484848493 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002396 25811787 NONHSAT118814.2 rs1045714 G N/A up to 5,529 european ancestry male individuals//up to 9,753 european ancestry female individuals EFO_0004531 N/A Associate Urate levels in lean individuals rs1045714-G of NONHSAT118814.2 is significantly associated with the urate levels in lean individuals by using GWAS analysis in up to 5,529 european ancestry male individuals//up to 9,753 european ancestry female individuals(p-value = 6E-6 ;OR = 0.081). 0.4 Modulation of genetic associations with serum urate levels by body-mass-index in humans. genome-wide association analysis NONHSAT118814.2 lncRNA Urate measurement 0.33 GGTGTTGGAC(A > G)AAGTAGCTTT chr7: 2613948 0.9046,0.09545 0.89100726299694189,0.10899273700305810 Region score:0.37; TSS score:0.67; Unmatched score:0.66; Average GERP:-1.140012871287129 GeneName:IQCE; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000106012; TranscriptID:ENST00000402050; AnnoType:3PRIME_UTR; mirSVR-Score:-0.0010; mirSVR-E:-34.40 | NCRV0000002397 28598434 NONHSAT074176.2 rs4662750 ? N/A 10,784 european ancestry cases//20,406 european ancestry controls; 3,182 european ancestry cases//6,301 european ancestry controls EFO_0000681 N/A Associate Renal cell carcinoma rs4662750-? of NONHSAT074176.2 is significantly associated with the renal cell carcinoma by using GWAS analysis in 10,784 european ancestry cases//20,406 european ancestry controls; 3,182 european ancestry cases//6,301 european ancestry controls(p-value = 2E-7 ;OR = 1.0893246). 0.4 Genome-wide association study identifies multiple risk loci for renal cell carcinoma. genome-wide association analysis NONHSAT074176.2 lncRNA Renal cell cancer 0.33 CTACACTAAT(A > C)TTGAAGGAAA chr2: 127634972 0.3123,0.6877 0.32359359072375127,0.67640640927624872 Region score:0.2; TSS score:0.09; Unmatched score:0.31; Average GERP:-1.7325722772277217 GeneName:LIMS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000072163; TranscriptID:ENST00000324938; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYO7B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000169994; TranscriptID:ENST00000428314; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002398 27342110 miR-196a2 rs11614913 T Dominant 230 cancer patients (including 17 types of cancer), 26 patients with pre-cancer lesions, and 100 unrelated controls. EFO_0001071 N/A Increasing risk Lung cancer rs11614913-T of miR-196a2 and its dysfunction is significantly associated with the increasing risk of lung cancer by using case-control analysis in 230 cancer patients (including 17 types of cancer), 26 patients with pre-cancer lesions, and 100 unrelated controls. . 0.4 MicroRNA-196a2 Biomarker and Targetome Network Analysis in Solid Tumors. case-control analysis hsa-mir-196a-2 miRNA Lung cancer 0.402 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002398 23143626 miR-196a2 rs11614913 C recessive 442 Chinese patients EFO_0001071 N/A increasing risk lung carcinoma rs11614913-C of hsa-mir-196a-2 and its dysfunction is significantly associated with the increasing risk of Lung carcinoma by using analysis of sequence variation in 442 Chinese patients 0.4 Hsa-miR-196a2 functional SNP is associated with severe toxicity after platinum-based chemotherapy of advanced nonsmall cell lung cancer patients in a Chinese population. analysis of sequence variation hsa-mir-196a-2 miRNA Lung carcinoma 0.402 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002398 22952151 miR-196a2 rs11614913 T Dominant 3 studies involving 26,018 subjects EFO_0001071 N/A decreasing risk lung carcinoma rs11614913-T of hsa-mir-196a-2 and its dysfunction is significantly associated with the decreasing risk of Lung carcinoma by using meta-analysis in 3 studies involving 26,018 subjects 0.4 The association of miR-146a rs2910164 and miR-196a2 rs11614913 polymorphisms with cancer risk: a meta-analysis of 32 studies. meta-analysis hsa-mir-196a-2 miRNA Lung carcinoma 0.402 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002398 26235181 miR-196a2 rs11614913 T Dominant 250 lung cancer cases and 255 controls EFO_0001071 N/A Increased risk and poor prognosis Lung cancer rs11614913-T of miR-196a2 and its dysfunction is significantly associated with the increasing risk and poor prognosis of lung cancer by using case-control analysis in 250 lung cancer cases and 255 controls. 0.4 Functional genetic variants in pre-miR-146a and 196a2 genes are associated with risk of lung cancer in North Indians. case-control analysis hsa-mir-196a-2 miRNA Lung cancer 0.402 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002398 26973201 miR-196a2 rs11614913 C N/a 575 patients with lung cancer and 608 healthy controls EFO_0001071 N/A No significance for risk Lung cancer rs11614913-C of miR-196a2 and its dysfunction is not significantly associated with lung cancer by using case-control analysis in 575 patients with lung cancer and 608 healthy controls . -0.4 Association between polymorphisms in pre-miRNA genes and risk of lung cancer in a Chinese non-smoking female population. case-control analysis hsa-mir-196a-2 miRNA Lung cancer 0.402 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002398 19293314 hsa-mir-196a2 rs11614913 CC N/a 1,058 incident lung cancer patients and 1,035 cancer-free controls EFO_0001071 N/A Increasing risk Lung cancer rs11614913 -CC of hsa-mir-196a2 and its dysfunction is significantly associated with the increasing risk of lung cancer by using case-control analysis in 1,058 incident lung cancer patients and 1,035 cancer-free controls. 0.4 A functional genetic variant in microRNA-196a2 is associated with increased susceptibility of lung cancer in Chinese. case-control analysis hsa-mir-196a-2 miRNA Lung cancer 0.402 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002399 28135244 NONHSAT070812.2 rs1432561 T N/A 140,886 european ancestry individuals; 190,318 european ancestry individuals EFO_0005763 N/A Associate Pulse pressure rs1432561-T of NONHSAT070812.2 is significantly associated with the pulse pressure by using GWAS analysis in 140,886 european ancestry individuals; 190,318 european ancestry individuals(p-value = 8E-6 ;OR = 0.144). 0.4 Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk. genome-wide association analysis NONHSAT070812.2 lncRNA Pulse pressure measurement 0.33 GTGGTCAAAT(G > T)GAAAGTTTTG chr2: 55961513 0.3742,0.6258 0.31350344036697247,0.68649655963302752 Region score:0.4; TSS score:0.33; Unmatched score:0.37; Average GERP:0.2713841584158414 GeneName:AC011306.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000272180; TranscriptID:ENST00000606639; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR217HG; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000226702; TranscriptID:ENST00000446139; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000291010; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000606557; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002400 29228715 NONHSAT102742.2 rs13355819 ? N/A 978 austrian ancestry colorectal cancer cases//636 austrian ancestry advanced colorectal adenoma cases//4,294 european ancestry controls EFO_0005842 N/A Associate Colorectal cancer rs13355819-? of NONHSAT102742.2 is significantly associated with the colorectal cancer by using GWAS analysis in 978 austrian ancestry colorectal cancer cases//636 austrian ancestry advanced colorectal adenoma cases//4,294 european ancestry controls(p-value = 5E-6 ;OR = 1.2425448). 0.4 Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas. genome-wide association analysis NONHSAT102742.2 lncRNA Colorectal cancer 0.33 TTCAAAAGCA(G > A)TGAAAGCTGC chr5: 91280462 0.8381,0.1619 0.73498024974515800,0.26501975025484199 Region score:0.36; TSS score:0.34; Unmatched score:0.79; Average GERP:-0.9874683168316829 GeneName:AC123595.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000234292; TranscriptID:ENST00000440769; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LUCAT1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000248323; TranscriptID:ENST00000648822; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000183917; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000762151; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002401 25201988 NONHSAT220138.1 rs1970584 A N/A 106,736 european ancestry individuals EFO_0004784 N/A Associate Educational attainment rs1970584-A of NONHSAT220138.1 is significantly associated with the educational attainment by using GWAS analysis in 106,736 european ancestry individuals(p-value = 5E-7 ;OR = 0.048). 0.4 Common genetic variants associated with cognitive performance identified using the proxy-phenotype method. genome-wide association analysis NONHSAT220138.1 lncRNA Self reported educational attainment 0.33 TTCAAGGGGG(A > C)CTGCATTTCG chr9: 123348027 0.03315,0.9669 0.05144622833843017,0.94855377166156982 Region score:0.41; TSS score:0.41; Unmatched score:0.4; Average GERP:-1.2500257425742578 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000893523; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002402 27863252 NONHSAT153273.1 rs59072704 C N/A 170,721 european ancestry individuals EFO_0005091 N/A Associate Monocyte count rs59072704-C of NONHSAT153273.1 is significantly associated with the monocyte count by using GWAS analysis in 170,721 european ancestry individuals(p-value = 1E-9 ;OR = 0.03162561). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT153273.1 lncRNA Monocyte count 0.33 AAATGCCTTG(T > C)TCGCCTGCTT chr1: 244324625 0.6763,0.3237 0.75950879204892966,0.24049120795107033 Region score:0.39; TSS score:0.32; Unmatched score:0.25; Average GERP:0.012324455445544483 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002403 25434007 MIR2682 rs543885789 T Dominant 2,610 sz cases and 2,611 controls of european ancestry EFO_0000289 N/A Increasing risk Bipolar disorder rs543885789-T of MIR2682 and its dysfunction is significantly associated with the increasing risk of bipolar disorder by using case-control analysis in 2,610 SZ cases and 2,611 controls of European ancestry. By using the disease cell lines or tissues, the interference and mutation of MIR2682 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 A rare functional noncoding variant at the GWAS-implicated MIR137/MIR2682 locus might confer risk to schizophrenia and bipolar disorder. case-control analysis; Function hsa-mir-2682 miRNA Bipolar disorder 0.593 AAAGCTGCTA(A > G,T)GAAAATGGCT chr1: 98049983 N/A 0.99957791794087665,0.00000796381243628,0.00041411824668705 N/A GeneName:AC104453.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000285922; TranscriptID:ENST00000648602; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR137; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284202; TranscriptID:ENST00000385223; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR137HG; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000225206; TranscriptID:ENST00000634594; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR2682; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284247; TranscriptID:ENST00000580305; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000010436; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002404 26584805 NONHSAT189294.1 rs2206405 T N/A 717 singaporean chinese ancestry myocardial infarction cases//644 singaporean chinese ancestry controls EFO_0000319 N/A Associate Plasma omega-6 polyunsaturated fatty acid levels (gamma-linolenic acid) rs2206405-T of NONHSAT189294.1 is significantly associated with the plasma omega-6 polyunsaturated fatty acid levels (gamma-linolenic acid) by using GWAS analysis in 717 singaporean chinese ancestry myocardial infarction cases//644 singaporean chinese ancestry controls(p-value = 1E-6 ;OR = 0.1241). 0.4 A genome-wide association study of n-3 and n-6 plasma fatty acids in a Singaporean Chinese population. genome-wide association analysis NONHSAT189294.1 lncRNA Cardiovascular disease 0.33 TCCCAAAGCA(A > T)ATAGTTTATA chr20: 7658302 0.5014,0.4986 0.59273063200815494,0.40726936799184505 Region score:0.21; TSS score:0.2; Unmatched score:0.03; Average GERP:-0.7124872277227721 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002405 25517750 NBAT-1 rs6939340 G dominant For RNA sequencing, a set of 15 tumors were selected: three clinical low-risk (Cohn et al., 2009) with a numerical only genotype (Car茅n et al., 2010), and 12 high-risk tumors with MYCN-amplification (n = 6) and 11q deletion (n = 6). In cohort I, a total of 106 Swedish and two German patients were included according to ethical permit number (Dnr 2011/354), it was approved by Regional Ethical Review Board, Uppsala University, Uppsala, and informed consent from the legal guardian was secured. In cohort II, RNA-seq data from 498 patients was used. EFO_0000621 N/A increasing risk neuroblastoma rs6939340-G of NBAT-1 and its dysfunction is significantly associated with the increasing risk of Neuroblastoma by using case-control analysis in For RNA sequencing, a set of 15 tumors were selected: three clinical low-risk (Cohn et al., 2009) with a numerical only genotype (Car茅n et al., 2010), and 12 high-risk tumors with MYCN-amplification (n = 6) and 11q deletion (n = 6). In cohort I, a total of 106 Swedish and two German patients were included according to ethical permit number (Dnr 2011/354), it was approved by Regional Ethical Review Board, Uppsala University, Uppsala, and informed consent from the legal guardian was secured. In cohort II, RNA-seq data from 498 patients was used. 2 The risk-associated long noncoding RNA NBAT-1 controls neuroblastoma progression by regulating cell proliferation and neuronal differentiation. case-control analysis NBAT-1 lncRNA Neuroblastoma 0.865 CATAAGTCTC(A > G)TATCTTACCA chr6: 22139775 0.3079,0.6921 0.38219928644240570,0.61780071355759429 Region score:0.13; TSS score:0.23; Unmatched score:0.12; Average GERP:-1.3983841584158412 GeneName:CASC15; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000272168; TranscriptID:ENST00000444265; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000785628; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NBAT1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000260455; TranscriptID:ENST00000566912; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002406 21130836 NONHSAT068481.2 rs11542478 A N/A up to 4,039 european ancestry individuals EFO_0004363 N/A Associate Information processing speed rs11542478-A of NONHSAT068481.2 is significantly associated with the information processing speed by using GWAS analysis in up to 4,039 european ancestry individuals(p-value = 9E-6 ;OR = 0.19). 0.4 Whole genome association scan for genetic polymorphisms influencing information processing speed. genome-wide association analysis NONHSAT068481.2 lncRNA Information processing speed 0.33 AAGTCTACTA(A > C)TGTTTTCTGG chr2: 38938 0.8694,0.1306 0.87771566004077471,0.12228433995922528 Region score:0.46; TSS score:0.76; Unmatched score:0.6; Average GERP:-0.5030990099009901 GeneName:FAM110C; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000184731; TranscriptID:ENST00000327669; AnnoType:3PRIME_UTR; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002407 22778062 SNORA20 rs9456447 G or T N/A N/A function N/A not significant changes in the structure function rs9456447-G or T of SNORA20 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in nan -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORA20 snoRNA function -0.049 TATCCCATGC(G > A)TATAACTGCT chr6: 159780331 0.9998,0.0001997 0.99998407237512742,0.00001592762487257 Region score:0.56; TSS score:0.33; Unmatched score:0.64; Average GERP:1.2925554455445545 GeneName:ACAT2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000120437; TranscriptID:ENST00000367048; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORA20; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207392; TranscriptID:ENST00000384662; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TCP1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000120438; TranscriptID:ENST00000321394; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002408 28928442 NONHSAT196671.1 rs13092917 ? N/A 52,487 european ancestry cases//22,017 european ancestry controls EFO_0008408 N/A Associate Strep throat rs13092917-? of NONHSAT196671.1 is significantly associated with the strep throat by using GWAS analysis in 52,487 european ancestry cases//22,017 european ancestry controls(p-value = 6E-6 ;OR = 0.029). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. genome-wide association analysis NONHSAT196671.1 lncRNA Susceptibility to strep throat measurement 0.33 TCTTCTTGCA(T > C)AGCGCCATTC chr3: 184629310 0.6611,0.3389 0.62116144240570846,0.37883855759429153 Region score:0.31; TSS score:0.27; Unmatched score:0.14; Average GERP:-0.546252475247525 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000711214; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002409 28240269 NONHSAT152520.1 rs6136 G N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0008254 N/A Associate Blood protein levels rs6136-G of NONHSAT152520.1 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 1E-25 ;OR = 0.7683). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. genome-wide association analysis NONHSAT152520.1 lncRNA P-selectin measurement 0.33 GGCACGGTAG(T > G)TGACCAGTGG chr1: 169594713 0.9641,0.03594 0.93156695973496432,0.06843304026503567 Region score:0.29; TSS score:0.26; Unmatched score:0.57; Average GERP:0.6274643564356436 GeneName:SELP; CADD-Score:7; Consquence:missense; GeneID:ENSG00000174175; TranscriptID:ENST00000263686; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002410 23406873 NONHSAT206401.1 rs248471 G N/A 665 han chinese ancestry cases//960 han chinese ancestry controls; 2,128 han chinese ancestry cases//3,683 han chinese ancestry controls EFO_0004207 N/A Associate Myopia (pathological) rs248471-G of NONHSAT206401.1 is significantly associated with the myopia (pathological) by using GWAS analysis in 665 han chinese ancestry cases//960 han chinese ancestry controls; 2,128 han chinese ancestry cases//3,683 han chinese ancestry controls(p-value = 2E-6 ;OR = 1.19). 0.4 A genome-wide meta-analysis identifies two novel loci associated with high myopia in the Han Chinese population. genome-wide association analysis NONHSAT206401.1 lncRNA Pathological myopia 0.33 AAGTCGAGCC(G > A)CTGAGCCACT chr5: 141809602 0.4583,0.5417 0.48623853211009174,0.51376146788990825 Region score:0.39; TSS score:0.48; Unmatched score:0.38; Average GERP:1.5465633663366327 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002411 26192919 NONHSAT199814.1 rs4692386 A N/A 5,956 european ancestry cases//14,927 european ancestry controls; 14,594 european ancestry cases//26,715 european ancestry controls//151 iranian ancestry cases//342 iranian ancestry controls//184 indian ancestry cases//990 indian ancestry controls//1,690 east asian ancestry cases//3,719 east asian ancestry controls EFO_0000384 N/A Associate Crohn's disease rs4692386-A of NONHSAT199814.1 is significantly associated with the crohn's disease by using GWAS analysis in 5,956 european ancestry cases//14,927 european ancestry controls; 14,594 european ancestry cases//26,715 european ancestry controls//151 iranian ancestry cases//342 iranian ancestry controls//184 indian ancestry cases//990 indian ancestry controls//1,690 east asian ancestry cases//3,719 east asian ancestry controls(p-value = 3E-7 ;OR = 1.0656859). 0.4 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. genome-wide association analysis NONHSAT199814.1 lncRNA Crohn's disease 0.33 TGAGAGTTGA(T > A,C)GTGAATTATG chr4: 26130739 0.3888,.,0.6112 0.38665902140672782,0.00108307849133537,0.61225790010193679 Region score:0.48; TSS score:0.29; Unmatched score:0.15; Average GERP:-0.6716712871287129 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000720088; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002412 23251661 NONHSAT148514.1 rs17360053 G N/A 815 hispanic children from 263 families EFO_0004735 N/A Associate Obesity-related traits rs17360053-G of NONHSAT148514.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 9E-6 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. genome-wide association analysis NONHSAT148514.1 lncRNA Serum alanine aminotransferase measurement 0.33 ATTGACCGAC(T > C)GACCTCTAGA chr1: 22173037 0.7572,0.2428 0.71774655963302752,0.28225344036697247 Region score:0.3; TSS score:0.43; Unmatched score:0.12; Average GERP:-0.14736500000000005 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002413 21909108 NONHSAT179794.1 rs445925 A N/A up to 31,211 european ancestry individuals; 10,553 european ancestry individuals//687 orcadian individuals EFO_0003914 N/A Associate Carotid intima media thickness rs445925-A of NONHSAT179794.1 is significantly associated with the carotid intima media thickness by using GWAS analysis in up to 31,211 european ancestry individuals; 10,553 european ancestry individuals//687 orcadian individuals(p-value = 2E-8 ;OR = 0.0156). 0.4 Meta-analysis of genome-wide association studies from the CHARGE consortium identifies common variants associated with carotid intima media thickness and plaque. genome-wide association analysis NONHSAT179794.1 lncRNA Atherosclerosis 0.451 GAAGGACAAA(G > A,C)AGCCCCCTTT chr19: 44912383 0.8502,0.1498,. 0.84554982161060142,0.15443425076452599,0.00001592762487257 Region score:0.32; TSS score:0.46; Unmatched score:0.37; Average GERP:-0.3876799999999996 GeneName:AC011481.3; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000280087; TranscriptID:ENST00000623895; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:APOC1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000130208; TranscriptID:ENST00000588750; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:APOE; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000130203; TranscriptID:ENST00000252486; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002413 21909108 NONHSAT179794.1 rs445925 G N/A up to 31,211 european ancestry individuals; 10,553 european ancestry individuals//687 orcadian individuals EFO_0003914 N/A Associate Carotid intima media thickness rs445925-G of NONHSAT179794.1 is significantly associated with the carotid intima media thickness by using GWAS analysis in up to 31,211 european ancestry individuals; 10,553 european ancestry individuals//687 orcadian individuals(p-value = 4E-6 ;OR = 1.22). 0.4 Meta-analysis of genome-wide association studies from the CHARGE consortium identifies common variants associated with carotid intima media thickness and plaque. genome-wide association analysis NONHSAT179794.1 lncRNA Atherosclerosis 0.451 GAAGGACAAA(G > A,C)AGCCCCCTTT chr19: 44912383 0.8502,0.1498,. 0.84554982161060142,0.15443425076452599,0.00001592762487257 Region score:0.32; TSS score:0.46; Unmatched score:0.37; Average GERP:-0.3876799999999996 GeneName:AC011481.3; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000280087; TranscriptID:ENST00000623895; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:APOC1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000130208; TranscriptID:ENST00000588750; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:APOE; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000130203; TranscriptID:ENST00000252486; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002414 22993228 NONHSAT108944.2 rs9469300 A N/A 4,683 european ancestry individuals EFO_0004994 N/A Associate Disc degeneration (lumbar) rs9469300-A of NONHSAT108944.2 is significantly associated with the disc degeneration (lumbar) by using GWAS analysis in 4,683 european ancestry individuals(p-value = 1E-7 ;OR = 0.19). 0.4 Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects. genome-wide association analysis NONHSAT108944.2 lncRNA Lumbar disc degeneration 0.33 TTCGTTAGCT(G > A)GCTCAAAATT chr6: 32892975 0.866,0.134 0.87324796126401630,0.12675203873598369 Region score:0.44; TSS score:0.35; Unmatched score:0.43; Average GERP:0.02596138613861391 GeneName:HLA-Z; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000235301; TranscriptID:ENST00000434920; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002415 28039263 NONHSAT070377.2 rs3179891 A N/A 511 european ancestry testicular cancer survivor individuals; 238 children EFO_0006951 N/A Associate Cisplatin-induced ototoxicity rs3179891-A of NONHSAT070377.2 is significantly associated with the cisplatin-induced ototoxicity by using GWAS analysis in 511 european ancestry testicular cancer survivor individuals; 238 children(p-value = 5E-7 ;OR = 5.026). 0.4 Variants in WFS1 and Other Mendelian Deafness Genes Are Associated with Cisplatin-Associated Ototoxicity. genome-wide association analysis NONHSAT070377.2 lncRNA Ototoxicity 0.33 GAAGCTGCAG(G > A)GTCTTTTCTA chr2: 43092840 0.7304,0.2696 0.73124522171253822,0.26875477828746177 Region score:0.33; TSS score:0.39; Unmatched score:0.31; Average GERP:-0.021597821782178228 GeneName:LINC02580; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000230587; TranscriptID:ENST00000434020; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RNU6-242P; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207087; TranscriptID:ENST00000384359; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002416 25445498 miR-146a rs2910164 G Dominant 254 patients and 265 health controls Orphanet_388 N/A Increasing risk Hirschsprung disease rs2910164-G of miR-146a and its dysfunction is significantly associated with the increasing risk of Hirschsprung disease by using case-control analysis in 254 patients and 265 health controls. By using the disease cell lines or tissues, the mutation of miR-146a has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 A common polymorphism in pre-miR-146a underlies Hirschsprung disease risk in Han Chinese. case-control analysis; Function hsa-mir-146a miRNA Hirschsprung disease 0.593 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 N/A 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002417 27770636 NONHSAT123657.2 rs192232892 T N/A 1,825 african american ancestry cases//3,784 african american ancestry controls; EFO_1001870 N/A Associate Late-onset alzheimer's disease rs192232892-T of NONHSAT123657.2 is significantly associated with the late-onset alzheimer's disease by using GWAS analysis in 1,825 african american ancestry cases//3,784 african american ancestry controls; (p-value = 3E-6 ;OR = 0.99). 0.4 Two novel loci, COBL and SLC10A2, for Alzheimer's disease in African Americans. genome-wide association analysis NONHSAT123657.2 lncRNA Late-onset alzheimers disease 0.33 TGAAATATTA(C > T)AAACTATATT chr7: 139942249 0.997,0.002995 0.99534913353720693,0.00465086646279306 Region score:0.27; TSS score:0.29; Unmatched score:0.08; Average GERP:-0.19752564356435648 GeneName:TBXAS1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000059377; TranscriptID:ENST00000416849; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002418 25378659 NONHSAT031256.2 rs12815613 A N/A 10,129 european ancestry individuals EFO_0006796 N/A Associate Very long-chain saturated fatty acid levels (fatty acid 20:0) rs12815613-A of NONHSAT031256.2 is significantly associated with the very long-chain saturated fatty acid levels (fatty acid 20:0) by using GWAS analysis in 10,129 european ancestry individuals(p-value = 3E-6 ;OR = 4.654). 0.4 Genetic loci associated with circulating levels of very long-chain saturated fatty acids. genome-wide association analysis NONHSAT031256.2 lncRNA Very long-chain saturated fatty acid measurement 0.33 ATGGCAAGGG(A > G)TACTCTTTTT chr12: 120969453 0.8508,0.1492 0.79051987767584097,0.20948012232415902 Region score:0.42; TSS score:0.05; Unmatched score:0.03; Average GERP:0.042019801980197974 GeneName:HNF1A-AS1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000241388; TranscriptID:ENST00000539163; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002419 27197292 piR-2799 rs149336947 ? N/a 1,840 glioma cases and 2,401 controls EFO_0005543 N/A Increasing risk Glioma rs149336947-? of piR-2799 and its dysfunction is significantly associated with the increasing risk of glioma by using genome-wide association analysis in 1,840 glioma cases and 2,401 controls. 0.4 PIWI-Interacting RNAs in Gliomagenesis: Evidence from Post-GWAS and Functional Analyses. genome-wide association analysis piR-2799 piRNA Glioma 0.33 ATGAATCCTG(G > A)GAGAATCAAG chr2: 201138942 0.993,0.006989 0.98845247196738022,0.01154752803261977 Region score:0.48; TSS score:0.41; Unmatched score:0.58; Average GERP:0.12854653465346516 GeneName:CFLAR-AS1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000226312; TranscriptID:ENST00000415011; AnnoType:DOWNSTREAM; mirSVR-Score:-0.1541; mirSVR-E:-17.65 | GeneName:CFLAR; CADD-Score:2; Consquence:intron; GeneID:ENSG00000003402; TranscriptID:ENST00000309955; AnnoType:INTRONIC; mirSVR-Score:-0.1541; mirSVR-E:-17.65 | GeneName:IMPDH1P10; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000232133; TranscriptID:ENST00000440965; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.1541; mirSVR-E:-17.65 | GeneName:RNU7-45P; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000238829; TranscriptID:ENST00000459460; AnnoType:UPSTREAM; mirSVR-Score:-0.1541; mirSVR-E:-17.65 | NCRV0000002420 28259691 HOTAIR rs12826786 T Dominant 128 Iranian prostate cancer patients and 250 normal male controls EFO_0001663 N/A increasing risk prostate carcinoma rs12826786-T of HOTAIR and its dysfunction is significantly associated with the increasing risk of Prostate carcinoma by using case-control analysis in 128 Iranian prostate cancer patients and 250 normal male controls 0.4 HOTAIR genetic variants are associated with prostate cancer and benign prostate hyperplasia in an Iranian population. case-control analysis HOTAIR lncRNA Prostate carcinoma 0.33 GTGAATTAGA(C > T)CTTTATCCTA chr12: 53961717 0.6424,0.3576 0.62241176095820591,0.37758823904179408 Region score:0.26; TSS score:0.59; Unmatched score:0.66; Average GERP:-0.08039504950495045 GeneName:HOTAIR; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000228630; TranscriptID:ENST00000424518; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC12; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000123407; TranscriptID:ENST00000243103; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000052264; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000458640; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01905; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000275589; TranscriptID:ENST00000611210; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01906; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277994; TranscriptID:ENST00000611352; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002421 27863252 NONHSAT107867.2 rs9464759 C N/A 172,952 european ancestry individuals EFO_0004305 N/A Associate Red blood cell count rs9464759-C of NONHSAT107867.2 is significantly associated with the red blood cell count by using GWAS analysis in 172,952 european ancestry individuals(p-value = 7E-13 ;OR = 0.04792764). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT107867.2 lncRNA Erythrocyte count 0.33 TGCTTGTCTC(T > C)TCTGTTGTCA chr6: 15176868 0.9577,0.04233 0.94214290265035677,0.05785709734964322 Region score:0.43; TSS score:0.4; Unmatched score:0.14; Average GERP:1.2556445544554458 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000784085; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002422 27863252 NONHSAT208991.1 rs2753960 T N/A 170,721 european ancestry individuals EFO_0005091 N/A Associate Monocyte count rs2753960-T of NONHSAT208991.1 is significantly associated with the monocyte count by using GWAS analysis in 170,721 european ancestry individuals(p-value = 2E-14 ;OR = 0.02776258). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT208991.1 lncRNA Monocyte count 0.33 GGGGGAAAGG(G > T)AGTCCTGCTA chr6: 31795067 0.6506,0.3494 0.63213557594291539,0.36786442405708460 N/A GeneName:LSM2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000204392; TranscriptID:ENST00000375661; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000195601; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:VARS; CADD-Score:7; Consquence:missense; GeneID:ENSG00000204394; TranscriptID:ENST00000375663; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002423 24341744 miRNA-323b rs56103835 T dominant 404 spontaneously recovered (SR) subjects as normal controls and 1035 chronic carriers (CC) of HBV who were further classified into 313 patients with chronic hepatitis, 305 patients with liver cirrhosis and 417 patients with hepatocellular carcinoma EFO_0004197 N/A increasing risk hepatitis B virus infection rs56103835-T of hsa-mir-323b and its dysfunction is significantly associated with the increasing risk of Hepatitis b infection by using case-control analysis in 404 spontaneously recovered (SR) subjects as normal controls and 1035 chronic carriers (CC) of HBV who were further classified into 313 patients with chronic hepatitis, 305 patients with liver cirrhosis and 417 patients with hepatocellular carcinoma 0.9 Association of a microRNA-323b polymorphism with the persistence of hepatitis B virus infection by the enhancement of viral replication. case-control analysis hsa-mir-323b miRNA Hepatitis b infection 0.593 TGCCACCTCA(T > A,C)GGTACTCGGA chr14: 101056219 0.7021,.,0.2979 0.79813328236493374,.,0.20186671763506625 Region score:0.4; TSS score:0.32; Unmatched score:0.56; Average GERP:0.9129702970297029 GeneName:MIR134; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207993; TranscriptID:ENST00000385258; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR154; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207978; TranscriptID:ENST00000385243; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR323B; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000208004; TranscriptID:ENST00000385269; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR381HG; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000258861; TranscriptID:ENST00000553692; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR382; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000283170; TranscriptID:ENST00000637119; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR485; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000208027; TranscriptID:ENST00000385292; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR487A; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207742; TranscriptID:ENST00000385009; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR496; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207961; TranscriptID:ENST00000385226; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR668; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000276352; TranscriptID:ENST00000611970; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000507777; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002424 22006218 NONHSAT213837.1 rs1404697 ? N/A 8,842 korean ancestry individuals; 1,366 african american individuals//671 european ancestry individuals EFO_0004318 N/A Associate Smoking behavior rs1404697-? of NONHSAT213837.1 is significantly associated with the smoking behavior by using GWAS analysis in 8,842 korean ancestry individuals; 1,366 african american individuals//671 european ancestry individuals(p-value = 5E-6 ;OR = ?). 0.4 Large-scale genome-wide association study of Asian population reveals genetic factors in FRMD4A and other loci influencing smoking initiation and nicotine dependence. genome-wide association analysis NONHSAT213837.1 lncRNA Smoking behavior 0.33 TAAGGAGCCT(G > C)TGGAGTTGTA chr7: 108904404 0.9273,0.07268 0.94327376401630988,0.05672623598369011 Region score:0.39; TSS score:0.42; Unmatched score:0.22; Average GERP:-0.4665297029702968 GeneName:AC004014.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000279043; TranscriptID:ENST00000623718; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002425 28598434 NONHSAT216848.1 rs2241261 T N/A 10,784 european ancestry cases//20,406 european ancestry controls; 3,182 european ancestry cases//6,301 european ancestry controls EFO_0000681 N/A Associate Renal cell carcinoma rs2241261-T of NONHSAT216848.1 is significantly associated with the renal cell carcinoma by using GWAS analysis in 10,784 european ancestry cases//20,406 european ancestry controls; 3,182 european ancestry cases//6,301 european ancestry controls(p-value = 6E-9 ;OR = 1.1). 0.4 Genome-wide association study identifies multiple risk loci for renal cell carcinoma. genome-wide association analysis NONHSAT216848.1 lncRNA Renal cell cancer 0.33 ACAAAGGTAG(C > G,T)AGGCAGGACC chr8: 23019226 0.5933,.,0.4067 0.53623534658511722,0.00091583843017329,0.46284881498470948 Region score:0.4; TSS score:0.53; Unmatched score:0.88; Average GERP:-0.973717128712871 GeneName:AC107959.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000245025; TranscriptID:ENST00000502083; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0016; mirSVR-E:-15.51 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000222156; AnnoType:REGULATORY; mirSVR-Score:-0.0016; mirSVR-E:-15.51 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000849946; AnnoType:REGULATORY; mirSVR-Score:-0.0016; mirSVR-E:-15.51 | GeneName:RHOBTB2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000008853; TranscriptID:ENST00000519685; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0016; mirSVR-E:-15.51 | GeneName:TNFRSF10B; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000120889; TranscriptID:ENST00000276431; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0016; mirSVR-E:-15.51 | NCRV0000002426 26053186 NONHSAT155311.1 rs12220014 ? N/A 362 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//438 european ancestry current smoker individuals//449 latino current smoker individuals//704 japanese ancestry current smoker individuals EFO_0001071 in smokers Associate 3-hydroxypropylmercapturic acid levels in smokers rs12220014-? of NONHSAT155311.1 is significantly associated with the 3-hydroxypropylmercapturic acid levels in smokers by using GWAS analysis in 362 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//438 european ancestry current smoker individuals//449 latino current smoker individuals//704 japanese ancestry current smoker individuals(p-value = 4E-6 ;OR = 0.6201). 0.4 Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer. genome-wide association analysis NONHSAT155311.1 lncRNA Lung cancer 0.33 GCCCAACGCT(G > A)TAAACACCCA chr10: 30288009 0.8389,0.1611 0.90886213047910295,0.09113786952089704 Region score:0.17; TSS score:0.29; Unmatched score:0.12; Average GERP:0.12244554455445515 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002427 22778062 SNORD114-16 rs11844771 T N/a N/a function N/A Not significant changes in the structure Function rs11844771-T of SNORD114-16 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD114-16 snoRNA Function -0.049 GTGTGAGTCA(C > T)GCATAATGAA chr14: 100973625 0.9768,0.02316 0.97597317787971457,0.02402682212028542 Region score:0.33; TSS score:0.26; Unmatched score:0.57; Average GERP:-1.2736643564356438 GeneName:MEG8; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000225746; TranscriptID:ENST00000638012; AnnoType:INTRONIC; mirSVR-Score:-0.2123; mirSVR-E:-19.33 | GeneName:RF00181; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000201500; TranscriptID:ENST00000364630; AnnoType:UPSTREAM; mirSVR-Score:-0.2123; mirSVR-E:-19.33 | GeneName:SNORD114-12; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000202270; TranscriptID:ENST00000365400; AnnoType:DOWNSTREAM; mirSVR-Score:-0.2123; mirSVR-E:-19.33 | GeneName:SNORD114-13; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000201247; TranscriptID:ENST00000364377; AnnoType:DOWNSTREAM; mirSVR-Score:-0.2123; mirSVR-E:-19.33 | GeneName:SNORD114-14; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000199593; TranscriptID:ENST00000362723; AnnoType:DOWNSTREAM; mirSVR-Score:-0.2123; mirSVR-E:-19.33 | GeneName:SNORD114-15; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000201557; TranscriptID:ENST00000364687; AnnoType:DOWNSTREAM; mirSVR-Score:-0.2123; mirSVR-E:-19.33 | GeneName:SNORD114-16; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000199914; TranscriptID:ENST00000363044; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.2123; mirSVR-E:-19.33 | GeneName:SNORD114-17; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000201569; TranscriptID:ENST00000364699; AnnoType:UPSTREAM; mirSVR-Score:-0.2123; mirSVR-E:-19.33 | GeneName:SNORD114-18; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000202142; TranscriptID:ENST00000365272; AnnoType:UPSTREAM; mirSVR-Score:-0.2123; mirSVR-E:-19.33 | GeneName:SNORD114-19; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000199942; TranscriptID:ENST00000363072; AnnoType:UPSTREAM; mirSVR-Score:-0.2123; mirSVR-E:-19.33 | NCRV0000002428 18356149 miR-181b-2 rs369088591 A Dominant >100 human tumor tissues and 20 cancer cell lines EFO_0001663 N/A increasing risk prostate carcinoma rs369088591-A of hsa-mir-181b-2 and its dysfunction is significantly associated with the increasing risk of Prostate carcinoma by using case-control analysis in >100 human tumor tissues and 20 cancer cell lines 0.4 Genetic variations of microRNAs in human cancer and their effects on the expression of miRNAs. case-control analysis hsa-mir-181b-2 miRNA Prostate carcinoma 0.33 TGCAAACTGC(G > A)GACCAAACAA chr9: 124693789 0.9998,0.0001997 0.99990443425076452,0.00009556574923547 - GeneName:MIR181A2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207595; TranscriptID:ENST00000384863; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR181A2HG; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000224020; TranscriptID:ENST00000429139; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR181B2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207737; TranscriptID:ENST00000385004; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000241320; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NR6A1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000148200; TranscriptID:ENST00000487099; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002429 27863252 NONHSAT208858.1 rs6917586 A N/A 169,219 european ancestry individuals EFO_0007988 N/A Associate Myeloid white cell count rs6917586-A of NONHSAT208858.1 is significantly associated with the myeloid white cell count by using GWAS analysis in 169,219 european ancestry individuals(p-value = 8E-12 ;OR = 0.02577226). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT208858.1 lncRNA Myeloid white cell count 0.33 AGCACGCAAC(G > A)TTTATTACCA chr6: 21381296 0.5769,0.4231 0.63512996941896024,0.36487003058103975 Region score:0.3; TSS score:0.22; Unmatched score:0.11; Average GERP:-0.6859223762376232 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002430 26634245 NONHSAT101320.2 rs116448453 T N/A 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio in copd rs116448453-T of NONHSAT101320.2 is significantly associated with the post bronchodilator fev1/fvc ratio in copd by using GWAS analysis in 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases(p-value = 1E-6 ;OR = 0.075). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT101320.2 lncRNA Pulmonary function measurement 0.33 CTTGATGTTG(G > T)ATTAGCAATC chr5: 43573032 0.9894,0.01058 0.98917717889908256,0.01082282110091743 Region score:0.33; TSS score:0.28; Unmatched score:0.19; Average GERP:0.12265346534653437 GeneName:NNT-AS1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000248092; TranscriptID:ENST00000513560; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002431 29059683 NONHSAT208550.1 rs6940159 C N/A 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls EFO_0000305 N/A Associate Breast cancer rs6940159-C of NONHSAT208550.1 is significantly associated with the breast cancer by using GWAS analysis in 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls(p-value = 3E-7 ;OR = 0.033). 0.4 Association analysis identifies 65 new breast cancer risk loci. genome-wide association analysis NONHSAT208550.1 lncRNA Breast cancer 0.33 TTGAGAAAGA(T > C)GGGCCAGGGG chr6: 170017397 0.5765,0.4235 0.44105186034658511,0.55894813965341488 Region score:0.34; TSS score:0.43; Unmatched score:0.15; Average GERP:-0.5615712871287128 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000813663; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002432 23817571 NONHSAT185350.1 rs11122895 T N/A 5,789 european ancestry cases//10,056 european ancestry controls; 6,114 european ancestry cases//9,920 european ancestry controls EFO_0005298 N/A Associate Allergic sensitization rs11122895-T of NONHSAT185350.1 is significantly associated with the allergic sensitization by using GWAS analysis in 5,789 european ancestry cases//10,056 european ancestry controls; 6,114 european ancestry cases//9,920 european ancestry controls(p-value = 2E-6 ;OR = 1.09). 0.4 Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization. genome-wide association analysis NONHSAT185350.1 lncRNA Allergic sensitization measurement 0.33 ACCGCCAGCT(C > A,T)GCAGCAAGAC chr2: 111712578 0.7618,.,0.2382 0.69573458205912334,0.00003981906218144,0.30422559887869520 Region score:0.38; TSS score:0.27; Unmatched score:0.19; Average GERP:-0.5803923762376239 GeneName:AC093166.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000227842; TranscriptID:ENST00000442243; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ANAPC1; CADD-Score:2; Consquence:intron,NMD; GeneID:ENSG00000153107; TranscriptID:ENST00000643447; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002433 28240269 NONHSAT003779.2 rs11209026 A N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0008181 N/A Associate Blood protein levels rs11209026-A of NONHSAT003779.2 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 3E-16 ;OR = 0.7416). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. genome-wide association analysis NONHSAT003779.2 lncRNA Interleukin 23 receptor measurement 0.33 AGATCATTCC(G > A)AACTGGGTAG chr1: 67240275 0.9772,0.02276 0.95546636085626911,0.04453363914373088 Region score:0.42; TSS score:0.36; Unmatched score:0.6; Average GERP:1.6307445544554449 GeneName:IL23R; CADD-Score:7; Consquence:missense; GeneID:ENSG00000162594; TranscriptID:ENST00000347310; AnnoType:NON_SYNONYMOUS; mirSVR-Score:-1.3115; mirSVR-E:-14.41 | NCRV0000002434 29058716 NONHSAT159884.1 rs11820646 C N/A 14,135 european ancestry cases//58,126 european ancestry controls; 7,333 european ancestry cases//42,468 european ancestry controls EFO_1000650 N/A Associate Breast cancer (estrogen-receptor negative) rs11820646-C of NONHSAT159884.1 is significantly associated with the breast cancer (estrogen-receptor negative) by using GWAS analysis in 14,135 european ancestry cases//58,126 european ancestry controls; 7,333 european ancestry cases//42,468 european ancestry controls(p-value = 2E-7 ;OR = 1.0638298). 0.4 Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer. genome-wide association analysis NONHSAT159884.1 lncRNA Estrogen-receptor negative breast cancer 0.33 TCAAAAGACA(T > C,G)GCATTCAAAT chr11: 129591276 0.3626,0.6374,. 0.35193679918450560,0.64803134556574923,0.00003185524974515 Region score:0.29; TSS score:0.2; Unmatched score:0.2; Average GERP:0.530559405940594 GeneName:AP003500.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000281386; TranscriptID:ENST00000626400; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000446519; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002435 22960999 NONHSAT192221.1 rs2239815 T N/A 2,031 han chinese ancestry cases//2,044 han chinese ancestry controls; 8,092 chinese ancestry cases//8,620 chinese ancestry controls EFO_0005922 N/A Associate Esophageal cancer (squamous cell) rs2239815-T of NONHSAT192221.1 is significantly associated with the esophageal cancer (squamous cell) by using GWAS analysis in 2,031 han chinese ancestry cases//2,044 han chinese ancestry controls; 8,092 chinese ancestry cases//8,620 chinese ancestry controls(p-value = 4E-15 ;OR = 1.18). 0.4 Genome-wide association analyses of esophageal squamous cell carcinoma in Chinese identify multiple susceptibility loci and gene-environment interactions. genome-wide association analysis NONHSAT192221.1 lncRNA Esophageal squamous cell cancer 0.451 GTATCACTAT(T > C)ACAAAGAATC chr22: 28796682 0.4565,0.5435 0.55337347094801223,0.44662652905198776 Region score:0.39; TSS score:0.22; Unmatched score:0.64; Average GERP:0.0846922772277227 GeneName:XBP1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000100219; TranscriptID:ENST00000216037; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:Z93930.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000226471; TranscriptID:ENST00000585003; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002435 25129146 NONHSAT192221.1 rs2239815 T N/A 5,337 han chinese ancestry cases//5,787 han chinese ancestry controls; 9,654 han chinese ancestry cases//10,058 han chinese ancestry controls EFO_0005922 N/A Associate Esophageal squamous cell carcinoma rs2239815-T of NONHSAT192221.1 is significantly associated with the esophageal squamous cell carcinoma by using GWAS analysis in 5,337 han chinese ancestry cases//5,787 han chinese ancestry controls; 9,654 han chinese ancestry cases//10,058 han chinese ancestry controls(p-value = 4E-7 ;OR = 1.16). 0.4 Joint analysis of three genome-wide association studies of esophageal squamous cell carcinoma in Chinese populations. genome-wide association analysis NONHSAT192221.1 lncRNA Esophageal squamous cell cancer 0.451 GTATCACTAT(T > C)ACAAAGAATC chr22: 28796682 0.4565,0.5435 0.55337347094801223,0.44662652905198776 Region score:0.39; TSS score:0.22; Unmatched score:0.64; Average GERP:0.0846922772277227 GeneName:XBP1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000100219; TranscriptID:ENST00000216037; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:Z93930.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000226471; TranscriptID:ENST00000585003; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002436 26691988 NONHSAT219619.1 rs10781182 ? N/A 16,144 european ancestry cases//17,832 european ancestry controls; 473 asian ancestry cases//1,099 asian ancestry controls//52 african ancestry cases//361 african ancestry cases//254 other non-european ancestry cases//694 other non-european ancestry controls EFO_0001365 N/A Associate Advanced age-related macular degeneration rs10781182-? of NONHSAT219619.1 is significantly associated with the advanced age-related macular degeneration by using GWAS analysis in 16,144 european ancestry cases//17,832 european ancestry controls; 473 asian ancestry cases//1,099 asian ancestry controls//52 african ancestry cases//361 african ancestry cases//254 other non-european ancestry cases//694 other non-european ancestry controls(p-value = 3E-9 ;OR = 1.11). 0.4 A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants. genome-wide association analysis NONHSAT219619.1 lncRNA Age-related macular degeneration 0.33 TATTTATGTA(T > G)ATTAGCATAA chr9: 74002804 0.5433,0.4567 0.48816577471967380,0.51183422528032619 Region score:0.41; TSS score:0.25; Unmatched score:0; Average GERP:-0.30282475247524765 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002437 21294900 NONHSAT195850.1 rs6549373 T N/A 1,017 african american individuals EFO_0004761 N/A Associate Uric acid levels rs6549373-T of NONHSAT195850.1 is significantly associated with the uric acid levels by using GWAS analysis in 1,017 african american individuals(p-value = 2E-6 ;OR = 0.349). 0.4 A genome-wide association study of serum uric acid in African Americans. genome-wide association analysis NONHSAT195850.1 lncRNA Uric acid measurement 0.33 TCTGATTCAT(C > T)TCCCTGACAG chr3: 66719460 0.9808,0.01917 0.98150802752293577,0.01849197247706422 Region score:0.32; TSS score:0.22; Unmatched score:0.04; Average GERP:-0.4602465346534653 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000689742; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002438 23613822 miR-146a rs2910164 CC Recessive 2,380 participants with diverse gastric lesions Orphanet_92050 N/A Increasing risk Helicobacter pylori-induced intestinal metaplasia or dysplasia rs2910164-CC of miR-146a and its dysfunction is significantly associated with the increasing risk of Helicobacter pylori-induced intestinal metaplasia or dysplasia by using analysis of sequence variation in 2,380 participants with diverse gastric lesions. 0.4 Genetic polymorphisms of miR-146a and miR-27a, H. pylori infection, and risk of gastric lesions in a Chinese population. analysis of sequence variation hsa-mir-146a miRNA Congenital tufting enteropathy 0.33 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 N/A 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002439 26580837 NONHSAT059838.2 rs9953769 G N/A 94 taiwanese han ancestry cases//376 taiwanese han ancestry controls EFO_0000253 N/A Associate Amyotrophic lateral sclerosis rs9953769-G of NONHSAT059838.2 is significantly associated with the amyotrophic lateral sclerosis by using GWAS analysis in 94 taiwanese han ancestry cases//376 taiwanese han ancestry controls(p-value = 9E-6 ;OR = 2.533). 0.4 A genome-wide association study on amyotrophic lateral sclerosis in the Taiwanese Han population. genome-wide association analysis NONHSAT059838.2 lncRNA Amyotrophic lateral sclerosis 0.33 AATGTATTAT(A > G)TAATCCTCAT chr18: 73354333 0.7238,0.2762 0.75463493883792048,0.24536506116207951 Region score:0.26; TSS score:0.25; Unmatched score:0.02; Average GERP:-0.29913564356435646 GeneName:LINC02582; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000261780; TranscriptID:ENST00000563172; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002440 21738483 miR-146a rs57095329 G Dominant 3968 cases and 3214 controls EFO_0002690 N/A Increasing risk Systemic lupus erythematosus rs57095329-G of miR-146a and its dysfunction is significantly associated with the increasing risk of Systemic lupus erythematosus by using case-control analysis in 3968 cases and 3214 controls. By using the disease cell lines or tissues, the interference and mutation of miR-146a has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. Moreover, the ncRNA variation-disease association was validated by complex experiments. 1.4 A functional variant in microRNA-146a promoter modulates its expression and confers disease risk for systemic lupus erythematosus. case-control analysis; Function; Mechanism hsa-mir-146a miRNA Systemic lupus erythematosus 0.753 GAGAGTACAG(A > G)CAGGAAGCCT chr5: 160467840 0.8572,0.1428 0.91701707441386340,0.08298292558613659 Region score:0.55; TSS score:0.62; Unmatched score:0.87; Average GERP:3.053772277227722 GeneName:MIR3142HG; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775866; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002441 16251535 miR-16-1 chr13:50623102 T Dominant 75 patients with CLL and 160 control subjects EFO_0000095 N/A increasing risk chronic lymphocytic leukemia chr13:50623102-T of hsa-mir-16-1 and its dysfunction is significantly associated with the increasing risk of Chronic lymphocytic leukemia by using case-control analysis in 75 patients with CLL and 160 control subjects 0.4 A MicroRNA signature associated with prognosis and progression in chronic lymphocytic leukemia. case-control analysis hsa-mir-16-1 miRNA Chronic lymphocytic leukemia 0.33 CACAACTGTA(G > T)AGTATGGTCA chr13:50623102 - - - GeneName:MIR16-1; CADD_Score:1; Consquence:downstream; GeneID:ENSG00000208006; TranscriptID:ENST00000385271; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:DLEU2; CADD_Score:2; Consquence:intronic; GeneID:ENSG00000231607; TranscriptID:ENST00000235290; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002442 18356149 miR-155 rs1386351276 C Dominant >100 human tumor tissues and 20 cancer cell lines EFO_0001663 N/A Increasing risk Prostate cancer rs1386351276-C of miR-155 and its dysfunction is significantly associated with the increasing risk of prostate cancer by using case-control analysis in >100 human tumor tissues and 20 cancer cell lines. 0.4 Genetic variations of microRNAs in human cancer and their effects on the expression of miRNAs. case-control analysis hsa-mir-155 miRNA Prostate cancer 0.33 ATGGAACAAA(T > C)TGCTGCCGTG chr21: 25574082 N/A 0.99999203618756371,0.00000796381243628 N/A GeneName:MIR155; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000283904; TranscriptID:ENST00000385060; AnnoType:DOWNSTREAM; mirSVR-Score:-0.3393; mirSVR-E:-21.66 | GeneName:MIR155HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000234883; TranscriptID:ENST00000456917; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.3393; mirSVR-E:-21.66 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000660151; AnnoType:REGULATORY; mirSVR-Score:-0.3393; mirSVR-E:-21.66 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000660153; AnnoType:REGULATORY; mirSVR-Score:-0.3393; mirSVR-E:-21.66 | NCRV0000002443 28441456 NONHSAT194003.1 rs17072075 C N/A 2,187 european ancestry individuals EFO_0007843 N/A Associate Facial morphology (factor 10//width of nasal floor) rs17072075-C of NONHSAT194003.1 is significantly associated with the facial morphology (factor 10//width of nasal floor) by using GWAS analysis in 2,187 european ancestry individuals(p-value = 6E-7 ;OR = 0.2235). 0.4 Genome-wide association study of facial morphology reveals novel associations with FREM1 and PARK2. genome-wide association analysis NONHSAT194003.1 lncRNA Nose morphology measurement 0.33 GCATCAAGTG(A > C)TGACCCATAA chr3: 65018530 0.8976,0.1024 0.88419023955147808,0.11580976044852191 Region score:0.45; TSS score:0.44; Unmatched score:0.07; Average GERP:-0.3603633663366337 GeneName:ADAMTS9-AS2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000241684; TranscriptID:ENST00000650103; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002444 22778062 SNORD115-6 rs28522423 T N/a N/a function N/A Not significant changes in the structure Function rs28522423-T of SNORD115-6 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD115-6 snoRNA Function -0.049 CACTGGGTCG(G > T)GTCAATGATG chr15: 25180498 0.976,0.02396 0.97595725025484199,0.02404274974515800 Region score:0.39; TSS score:0.07; Unmatched score:0.53; Average GERP:-0.46482871287128724 GeneName:SNHG14; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000224078; TranscriptID:ENST00000447911; AnnoType:INTRONIC; mirSVR-Score:-0.0353; mirSVR-E:-11.72 | GeneName:SNORD115-4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000200680; TranscriptID:ENST00000363810; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0353; mirSVR-E:-11.72 | GeneName:SNORD115-5; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000200503; TranscriptID:ENST00000363633; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0353; mirSVR-E:-11.72 | GeneName:SNORD115-6; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000200812; TranscriptID:ENST00000363942; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0353; mirSVR-E:-11.72 | GeneName:SNORD115-7; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000278089; TranscriptID:ENST00000365306; AnnoType:UPSTREAM; mirSVR-Score:-0.0353; mirSVR-E:-11.72 | GeneName:SNORD115-8; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000200726; TranscriptID:ENST00000363856; AnnoType:UPSTREAM; mirSVR-Score:-0.0353; mirSVR-E:-11.72 | NCRV0000002445 26152337 hsa-mir-585 rs62376934 A N/A 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A no significance for risk hepatocellular carcinoma rs62376934-A of hsa-mir-585 and its dysfunction is not significantly associated with Hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors -0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. case-control analysis hsa-mir-585 miRNA Hepatocellular carcinoma -0.33 ACATTGTTAC(A > C,G)GCAGCCCTAG chr5: 169263608 0.1915,.,0.8085 0.23541029561671763,.,0.76458970438328236 Region score:0.33; TSS score:0.1; Unmatched score:0.35; Average GERP:-0.6467217821782176 GeneName:MIR585; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207619; TranscriptID:ENST00000384887; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000190417; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SLIT3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000184347; TranscriptID:ENST00000332966; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002446 22589738 NONHSAT161170.1 rs12285276 G N/A 5,560 european ancestry female individuals//4,997 european ancestry male individuals EFO_0004765 N/A Associate Visceral fat rs12285276-G of NONHSAT161170.1 is significantly associated with the visceral fat by using GWAS analysis in 5,560 european ancestry female individuals//4,997 european ancestry male individuals(p-value = 9E-6 ;OR = ?). 0.4 Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. genome-wide association analysis NONHSAT161170.1 lncRNA Visceral adipose tissue measurement 0.33 TGTCCTGTAA(G > C)TTTGTACCCT chr11: 45792030 0.5282,0.4718 0.61121464067278287,0.38878535932721712 Region score:0.38; TSS score:0.28; Unmatched score:0.1; Average GERP:-0.8274089108910894 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002447 26152337 hsa-mir-2053 rs10505168 C N/A 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A increasing risk hepatocellular carcinoma rs10505168-C of hsa-mir-2053 and its dysfunction is significantly associated with the increasing risk of Hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors 0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. case-control analysis hsa-mir-2053 miRNA Hepatocellular carcinoma 0.33 TTAATTAACA(T > C)TTGCAACCTG chr8: 112643523 0.6132,0.3868 0.63883314220183486,0.36116685779816513 Region score:0.65; TSS score:0.47; Unmatched score:0.7; Average GERP:2.815663366336635 GeneName:CSMD3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000164796; TranscriptID:ENST00000297405; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR2053; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000238399; TranscriptID:ENST00000459295; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002448 28763065 NONHSAT059881.2 rs138087875 A N/A 295 european//african american//asian//native american and other admixed ancestry infants//17 european//african american//asian//native american and other admixed ancestry sibling pairs//116 european//african american//asian//native american and other admixed ancestry twin pairs. EFO_0008368 N/A Associate Brain volume in infants (grey matter) rs138087875-A of NONHSAT059881.2 is significantly associated with the brain volume in infants (grey matter) by using GWAS analysis in 295 european//african american//asian//native american and other admixed ancestry infants//17 european//african american//asian//native american and other admixed ancestry sibling pairs//116 european//african american//asian//native american and other admixed ancestry twin pairs.(p-value = 4E-7 ;OR = 1.96). 0.4 Genome-wide association analysis identifies common variants influencing infant brain volumes. genome-wide association analysis NONHSAT059881.2 lncRNA Infant grey matter volume measurement 0.33 TTTCTGTGGA(A > AC)CAGGTGGTTT chr18: 74593493 0.9315,0.06849 0.93335881753312945,0.06664118246687054 N/A GeneName:LINC00909; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000264247; TranscriptID:ENST00000580048; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ZNF407; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000215421; TranscriptID:ENST00000582337; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002449 29083406 NONHSAT208947.1 rs9259819 G N/A 180,129 european ancestry cases//180,709 european ancestry controls EFO_0003785 N/A Associate Allergic disease (asthma//hay fever or eczema) rs9259819-G of NONHSAT208947.1 is significantly associated with the allergic disease (asthma//hay fever or eczema) by using GWAS analysis in 180,129 european ancestry cases//180,709 european ancestry controls(p-value = 2E-9 ;OR = 1.036). 0.4 Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology. genome-wide association analysis NONHSAT208947.1 lncRNA Allergy 0.33 TTGTCTCTAT(G > T)CTGTCTCATG chr6: 29925798 0.4495,0.5505 0.49552433741080530,0.50447566258919469 Region score:0.44; TSS score:0.37; Unmatched score:0.77; Average GERP:-1.1698515306122446 GeneName:HCG4B; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000227262; TranscriptID:ENST00000450128; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HLA-K; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000230795; TranscriptID:ENST00000430151; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000195344; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002450 26053186 NONHSAT052571.2 rs756766 ? N/A 362 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//438 european ancestry current smoker individuals//449 latino current smoker individuals//704 japanese ancestry current smoker individuals EFO_0001071 in smokers Associate 3-hydroxypropylmercapturic acid levels in smokers rs756766-? of NONHSAT052571.2 is significantly associated with the 3-hydroxypropylmercapturic acid levels in smokers by using GWAS analysis in 362 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//438 european ancestry current smoker individuals//449 latino current smoker individuals//704 japanese ancestry current smoker individuals(p-value = 7E-6 ;OR = 0.5607). 0.4 Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer. genome-wide association analysis NONHSAT052571.2 lncRNA Lung cancer 0.33 GCAACATGGC(A > G)AAAGCCCATC chr17: 28362619 0.01158,0.9884 0.01828491335372069,0.98171508664627930 Region score:0.36; TSS score:0.29; Unmatched score:0.47; Average GERP:-0.04922772277227722 GeneName:AC002094.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000258924; TranscriptID:ENST00000591482; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC002094.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000265618; TranscriptID:ENST00000577850; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC002094.3; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000273171; TranscriptID:ENST00000555059; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR4723; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000284532; TranscriptID:ENST00000585070; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SARM1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000004139; TranscriptID:ENST00000379061; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SEBOX; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000274529; TranscriptID:ENST00000536498; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TMEM199; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000244045; TranscriptID:ENST00000292114; AnnoType:3PRIME_UTR; mirSVR-Score:NA; mirSVR-E:NA | GeneName:VTN; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000109072; TranscriptID:ENST00000226218; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002451 24306027 miR-372 rs765248574 C Dominant 98 chronic lymphocytic leukemia patients(CLL), Additionally, the primary regions of miR-29b-2/29c and miR-16-1 were analyzed in another cohort of 213 and 193 CLL patients EFO_0000095 N/A increasing risk chronic lymphocytic leukemia rs765248574-C of hsa-mir-372 and its dysfunction is significantly associated with the increasing risk of Chronic lymphocytic leukemia by using case-control analysis in 98 chronic lymphocytic leukemia patients(CLL), Additionally, the primary regions of miR-29b-2/29c and miR-16-1 were analyzed in another cohort of 213 and 193 CLL patients 0.4 Identification of novel sequence variations in microRNAs in chronic lymphocytic leukemia. case-control analysis hsa-mir-372 miRNA Chronic lymphocytic leukemia 0.33 GGGCCTCAAA(T > C)GTGGAGCACT chr19: 53787902 0 0.99998407237512742,0.00001592762487257 - GeneName:AC008753.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000269564; TranscriptID:ENST00000597420; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC008753.3; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000269877; TranscriptID:ENST00000595160; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR371A; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000199031; TranscriptID:ENST00000362161; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR371B; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284568; TranscriptID:ENST00000638082; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR372; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000199095; TranscriptID:ENST00000362225; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR373; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000199143; TranscriptID:ENST00000362273; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000593522; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002452 22778062 SNORD116-25 rs2472264 T N/A N/A function N/A not significant changes in the structure function rs2472264-T of SNORD116-25 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in nan -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD116-25 snoRNA function -0.049 TCATCGGAAT(C > T)TGAACAAAAT chr15: 25097700 0 RS=2472264;RSPOS=25097700;dbSNPBuildID=100;SSR=0;SAO=0;VP=0x0500000a0005000002000100;GENEINFO=SNORD116-26:100033438|SNORD116-25:100033436|SNHG14:104472715;WGT=1;VC=SNV;INT;R5;ASP Region score:0.49; TSS score:0.04; Unmatched score:0.35; Average GERP:-0.16218910891089106 GeneName:SNHG14; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000224078; TranscriptID:ENST00000640631; AnnoType:INTRONIC; mirSVR-Score:-0.9253; mirSVR-E:-15.82 | GeneName:SNORD116-24; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207279; TranscriptID:ENST00000384549; AnnoType:DOWNSTREAM; mirSVR-Score:-0.9253; mirSVR-E:-15.82 | GeneName:SNORD116-25; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000252326; TranscriptID:ENST00000516517; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.9253; mirSVR-E:-15.82 | GeneName:SNORD116-26; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000251815; TranscriptID:ENST00000516006; AnnoType:UPSTREAM; mirSVR-Score:-0.9253; mirSVR-E:-15.82 | GeneName:SNORD116-27; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000251896; TranscriptID:ENST00000516087; AnnoType:UPSTREAM; mirSVR-Score:-0.9253; mirSVR-E:-15.82 | NCRV0000002453 26691988 NONHSAT122368.2 rs7803454 ? N/A 16,144 european ancestry cases//17,832 european ancestry controls; 473 asian ancestry cases//1,099 asian ancestry controls//52 african ancestry cases//361 african ancestry cases//254 other non-european ancestry cases//694 other non-european ancestry controls EFO_0001365 N/A Associate Advanced age-related macular degeneration rs7803454-? of NONHSAT122368.2 is significantly associated with the advanced age-related macular degeneration by using GWAS analysis in 16,144 european ancestry cases//17,832 european ancestry controls; 473 asian ancestry cases//1,099 asian ancestry controls//52 african ancestry cases//361 african ancestry cases//254 other non-european ancestry cases//694 other non-european ancestry controls(p-value = 5E-9 ;OR = 1.13). 0.4 A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants. genome-wide association analysis NONHSAT122368.2 lncRNA Age-related macular degeneration 0.33 GCCCTCTCCA(C > T)ACAGCCGATC chr7: 100393925 0.9129,0.08706 0.86544342507645259,0.13455657492354740 Region score:0.33; TSS score:0.33; Unmatched score:0.21; Average GERP:-0.22974950495049493 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000833570; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PILRA; CADD-Score:2; Consquence:intron; GeneID:ENSG00000085514; TranscriptID:ENST00000198536; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002454 28958479 MIR137 rs1625579 T N/a 426 first-degree relatives of patients with schizophrenia or bipolar disorder EFO_0005407 N/A Increasing risk White matter fractional anisotropy and cortical surface area in individuals with familial risk for psychosis rs1625579-T of MIR137 and its dysfunction is significantly associated with the increasing risk of white matter fractional anisotropy and cortical surface area in individuals with familial risk for psychosis by using case-control analysis in 426 first-degree relatives of patients with schizophrenia or bipolar disorder. 0.4 The influence of MIR137 on white matter fractional anisotropy and cortical surface area in individuals with familial risk for psychosis. case-control analysis hsa-mir-137 miRNA Psychosis 0.33 CTGAGTTGAT(G > T)TAATTGTGAT chr1: 98037378 0.2031,0.7969 0.20921731651376146,0.79078268348623853 Region score:0.29; TSS score:0.13; Unmatched score:0.07; Average GERP:0.06902574257425746 GeneName:MIR137HG; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000225206; TranscriptID:ENST00000634594; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002455 28166213 NONHSAT204840.1 rs3839234 ? N/A 48,943 european ancestry individuals.; 57,176 european ancestry individuals//38,199 individuals. EFO_0000341 N/A Associate Lung function (fev1) rs3839234-? of NONHSAT204840.1 is significantly associated with the lung function (fev1) by using GWAS analysis in 48,943 european ancestry individuals.; 57,176 european ancestry individuals//38,199 individuals.(p-value = 4E-11 ;OR = 0.026). 0.4 Genome-wide association analyses for lung function and chronic obstructive pulmonary disease identify new loci and potential druggable targets. genome-wide association analysis NONHSAT204840.1 lncRNA Chronic obstructive pulmonary disease 0.33 AGTGTTATCT(TG > T)GGCTTCAGGT chr5: 149217130 0.5901,0.4099 0.59468972986748216,0.40531027013251783 N/A GeneName:ABLIM3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000173210; TranscriptID:ENST00000506113; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC012613.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000248647; TranscriptID:ENST00000512647; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC012613.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253406; TranscriptID:ENST00000523176; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002456 27864917 miR-708 rs768049399 C N/A 2078 subjects with bipolar disorder and 1355 healthy controls. EFO_0000289 N/A no significance for risk bipolar disorder rs768049399-C of hsa-mir-708 and its dysfunction is not significantly associated with Bipolar disorder by using case-control analysis in 2078 subjects with bipolar disorder and 1355 healthy controls. -0.4 Genetic variation in the miR-708 gene and its binding targets in bipolar disorder. case-control analysis hsa-mir-708 miRNA Bipolar disorder -0.33 GTGTGCAGGG(T > C,G)GAGAAGAGAG chr11: 79401996 0 0.99992036187563710,.,0.00007963812436289 - GeneName:MIR708; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000211997; TranscriptID:ENST00000390708; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TENM4; CADD-Score:2; Consquence:intron; GeneID:ENSG00000149256; TranscriptID:ENST00000278550; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002457 28240269 NONHSAT200055.1 rs425535 ? N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0008058 N/A Associate Blood protein levels rs425535-? of NONHSAT200055.1 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 1E-9 ;OR = ?). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. genome-wide association analysis NONHSAT200055.1 lncRNA C-x-c motif chemokine 5 measurement 0.33 GATGAACTCC(T > C)TGCGTGGTCT chr4: 73998280 0.1869,0.8131 0.19626019367991845,0.80373980632008154 Region score:0.29; TSS score:0.3; Unmatched score:0.73; Average GERP:0.1548217821782179 GeneName:CXCL5; CADD-Score:5; Consquence:synonymous; GeneID:ENSG00000163735; TranscriptID:ENST00000296027; AnnoType:SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000726705; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000726706; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002458 20062062 NONHSAT191834.1 rs2242944 ? N/A 2,053 european ancestry cases//5,140 european ancestry controls; 898 european ancestry cases//1,518 european ancestry controls EFO_0003898 N/A Associate Ankylosing spondylitis rs2242944-? of NONHSAT191834.1 is significantly associated with the ankylosing spondylitis by using GWAS analysis in 2,053 european ancestry cases//5,140 european ancestry controls; 898 european ancestry cases//1,518 european ancestry controls(p-value = 8E-20 ;OR = 1.39). 0.4 Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci. genome-wide association analysis NONHSAT191834.1 lncRNA Ankylosing spondylitis 0.33 TCCAAAGGAA(G > A)CCAGTGATAC chr21: 39093252 0.5008,0.4992 0.52765832059123343,0.47234167940876656 Region score:0.31; TSS score:0.31; Unmatched score:0.18; Average GERP:-0.6675940594059405 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002459 25256182 NONHSAT130433.2 rs10733376 ? N/A 2,617 european ancestry cases//2,548 european ancestry controls; 1,516 european ancestry cases//5,321 european ancestry controls EFO_0003870 N/A Associate Intracranial aneurysm rs10733376-? of NONHSAT130433.2 is significantly associated with the intracranial aneurysm by using GWAS analysis in 2,617 european ancestry cases//2,548 european ancestry controls; 1,516 european ancestry cases//5,321 european ancestry controls(p-value = 4E-12 ;OR = 1.34). 0.4 Genome-wide association study of intracranial aneurysm identifies a new association on chromosome 7. genome-wide association analysis NONHSAT130433.2 lncRNA Brain aneurysm 0.33 GGCAGACTGT(G > C)TGGCTACTAT chr9: 22114470 0.3193,0.6807 0.34463398318042813,0.65536601681957186 Region score:0.21; TSS score:0.11; Unmatched score:0.26; Average GERP:-0.22581247524752468 GeneName:CDKN2B-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000240498; TranscriptID:ENST00000428597; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01909; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277653; TranscriptID:ENST00000617921; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002460 24324551 NONHSAT209077.1 rs2038868 ? N/A 207 brazilian ancestry cases//306 brazilian ancestry controls EFO_0005529 in Tripanosoma cruzi seropositivity Associate Chagas cardiomyopathy in tripanosoma cruzi seropositivity rs2038868-? of NONHSAT209077.1 is significantly associated with the chagas cardiomyopathy in tripanosoma cruzi seropositivity by using GWAS analysis in 207 brazilian ancestry cases//306 brazilian ancestry controls(p-value = 9E-6 ;OR = ?). 0.4 Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects. genome-wide association analysis NONHSAT209077.1 lncRNA Chagas cardiomyopathy 0.33 CTAAAGCAAT(A > G)CAAAGCAGAC chr6: 40360639 0.9535,0.04653 0.97838621304791029,0.02161378695208970 Region score:0.15; TSS score:0.11; Unmatched score:0.13; Average GERP:0.1394871287128713 GeneName:AL139275.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000226070; TranscriptID:ENST00000447315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000790191; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TDRG1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000204091; TranscriptID:ENST00000451810; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002461 20810544 miRNA-146a rs2910164 C N/a 101 italian probands with ascertained familiarity for breast/ovarian cancer and tested negative for both brca1 and brca2 gene mutations and 155 controls Orphanet_227535 N/A Increasing risk Familial breast cancer rs2910164 -C of miRNA-146a and its dysfunction is significantly associated with the increasing risk of familial breast cancer by using case-control analysis in 101 Italian probands with ascertained familiarity for breast/ovarian cancer and tested negative for both BRCA1 and BRCA2 gene mutations and 155 controls. 0.4 Association between hsa-mir-146a genotype and tumor age-of-onset in BRCA1/BRCA2-negative familial breast and ovarian cancer patients. case-control analysis hsa-mir-146a miRNA Hereditary breast cancer 0.667 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 N/A 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002461 18660546 miR-146a rs2910164 C Dominant 42 patients with familial breast cancer Orphanet_227535 N/A increasing risk Hereditary breast cancer rs2910164-C of hsa-mir-146a and its dysfunction is significantly associated with the increasing risk of Hereditary breast cancer by using analysis of sequence variation in 42 patients with familial breast cancer 0.9 A functional polymorphism in the miR-146a gene and age of familial breast/ovarian cancer diagnosis. analysis of sequence variation hsa-mir-146a miRNA Hereditary breast cancer 0.667 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 0 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002462 25190020 miR-34b/c rs4938723 C Dominant 419 gastric cancer patients and 402 age- and sex-matched cancer-free controls EFO_0000178 N/A Decreasing risk Gastric cancer rs4938723-C of miR-34b/c and its dysfunction is significantly associated with the decreasing risk of gastric cancer by using case-control analysis in 419 gastric cancer patients and 402 age- and sex-matched cancer-free controls. 0.4 Promoter polymorphisms of miR-34b/c are associated with risk of gastric cancer in a Chinese population. case-control analysis hsa-mir-34b miRNA Gastric cancer 0.33 TTTGACCTAT(T > C)ACAGCTCTCA chr11: 111511840 0.7143,0.2857 0.67424025229357798,0.32575974770642201 Region score:0.24; TSS score:0.41; Unmatched score:0.71; Average GERP:-0.7293356435643562 GeneName:AP002008.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000254980; TranscriptID:ENST00000530283; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:BTG4; CADD-Score:2; Consquence:intron; GeneID:ENSG00000137707; TranscriptID:ENST00000356018; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:C11orf88; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000183644; TranscriptID:ENST00000332814; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR34B; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207811; TranscriptID:ENST00000385076; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR34C; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207562; TranscriptID:ENST00000384831; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002463 28416818 NONHSAT170847.1 rs2921421 G N/A 15,979 european ancestry cases//102,776 european ancestry controls. EFO_0000275 N/A Associate Atrial fibrillation rs2921421-G of NONHSAT170847.1 is significantly associated with the atrial fibrillation by using GWAS analysis in 15,979 european ancestry cases//102,776 european ancestry controls.(p-value = 3E-8 ;OR = 1.72). 0.4 Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation. genome-wide association analysis NONHSAT170847.1 lncRNA Atrial fibrillation 0.33 CCTCTGGCAG(G > C,T)TTAGTCCAGG chr15: 57351688 0.1695,0.8305,. 0.13653956422018348,0.86062531855249745,0.00283511722731906 Region score:0.23; TSS score:0.29; Unmatched score:0.13; Average GERP:-0.6238247524752476 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002464 24483146 NONHSAT150699.1 rs10495285 ? N/A 60 european ancestry lymphoblastoid cell lines//54 african american lymphoblastoid cell lines//60 han chinese ancestry lymphoblastoid cell lines EFO_0005655 N/A Associate Response to cytadine analogues (cytosine arabinoside) rs10495285-? of NONHSAT150699.1 is significantly associated with the response to cytadine analogues (cytosine arabinoside) by using GWAS analysis in 60 european ancestry lymphoblastoid cell lines//54 african american lymphoblastoid cell lines//60 han chinese ancestry lymphoblastoid cell lines(p-value = 4E-7 ;OR = ?). 0.4 Discovery of genetic biomarkers contributing to variation in drug response of cytidine analogues using human lymphoblastoid cell lines. genome-wide association analysis NONHSAT150699.1 lncRNA Response to cytosine arabinoside 0.33 TGTCTTATCT(C > G,T)AGCCCTACAT chr1: 229669248 0.8051,0.1949,. 0.76009015035677879,0.23980632008154943,0.00010352956167176 Region score:0.3; TSS score:0.23; Unmatched score:0.1; Average GERP:-0.39550000000000024 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002465 24952745 NONHSAT177151.1 rs17763769 A N/A up to 70,389 european ancestry individuals//up to 672 orcadian individuals; up to 33,316 european ancestry individuals EFO_0004278 N/A Associate Qt interval rs17763769-A of NONHSAT177151.1 is significantly associated with the qt interval by using GWAS analysis in up to 70,389 european ancestry individuals//up to 672 orcadian individuals; up to 33,316 european ancestry individuals(p-value = 5E-11 ;OR = 0.89). 0.4 Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization. genome-wide association analysis NONHSAT177151.1 lncRNA Sudden cardiac arrest 0.33 AAAAGCCTGG(G > A,T)AGTCTTCAAA chr17: 70564648 0.9341,0.06589,. 0.90423515545361875,0.09572502548419979,0.00003981906218144 Region score:0.32; TSS score:0.25; Unmatched score:0.08; Average GERP:-0.1489128712871286 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002466 22961080 NONHSAT224320.1 rs5945326 A N/A 1,839 han chinese ancestry cases//1,873 han chinese ancestry controls; 15,979 east asian ancestry cases//19,360 east asian ancestry controls//794 malay ancestry cases//1,240 malay ancestry controls//159 filipino ancestry cases//1,624 filipino ancestry controls EFO_0001360 N/A Associate Type 2 diabetes rs5945326-A of NONHSAT224320.1 is significantly associated with the type 2 diabetes by using GWAS analysis in 1,839 han chinese ancestry cases//1,873 han chinese ancestry controls; 15,979 east asian ancestry cases//19,360 east asian ancestry controls//794 malay ancestry cases//1,240 malay ancestry controls//159 filipino ancestry cases//1,624 filipino ancestry controls(p-value = 7E-16 ;OR = 1.18). 0.4 A genome-wide association study identifies GRK5 and RASGRP1 as type 2 diabetes loci in Chinese Hans. genome-wide association analysis NONHSAT224320.1 lncRNA Type ii diabetes mellitus 0.52 GGGTCTACAC(A > G)CATTGCTACG chrX: 153634467 0.6691,0.3309 0.74384397298674821,0.25615602701325178 Region score:0.33; TSS score:0.3; Unmatched score:0.13; Average GERP:-0.4520702970297031 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002466 23945395 NONHSAT224320.1 rs5945326 A N/A 5,976 japanese ancestry cases//20,829 japanese ancestry controls; 24,416 east asian ancestry cases//13,985 east asian ancestry controls EFO_0001360 N/A Associate Type 2 diabetes rs5945326-A of NONHSAT224320.1 is significantly associated with the type 2 diabetes by using GWAS analysis in 5,976 japanese ancestry cases//20,829 japanese ancestry controls; 24,416 east asian ancestry cases//13,985 east asian ancestry controls(p-value = 2E-12 ;OR = 1.14). 0.4 Genome-wide association study identifies three novel loci for type 2 diabetes. genome-wide association analysis NONHSAT224320.1 lncRNA Type ii diabetes mellitus 0.52 GGGTCTACAC(A > G)CATTGCTACG chrX: 153634467 0.6691,0.3309 0.74384397298674821,0.25615602701325178 Region score:0.33; TSS score:0.3; Unmatched score:0.13; Average GERP:-0.4520702970297031 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002466 20581827 NONHSAT224320.1 rs5945326 A N/A 8,130 european ancestry cases//38,987 european ancestry controls; up to 34,412 european ancestry cases//59,925 european ancestry controls EFO_0001360 N/A Associate Type 2 diabetes rs5945326-A of NONHSAT224320.1 is significantly associated with the type 2 diabetes by using GWAS analysis in 8,130 european ancestry cases//38,987 european ancestry controls; up to 34,412 european ancestry cases//59,925 european ancestry controls(p-value = 3E-10 ;OR = 1.27). 0.4 Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. genome-wide association analysis NONHSAT224320.1 lncRNA Type ii diabetes mellitus 0.52 GGGTCTACAC(A > G)CATTGCTACG chrX: 153634467 0.6691,0.3309 0.74384397298674821,0.25615602701325178 Region score:0.33; TSS score:0.3; Unmatched score:0.13; Average GERP:-0.4520702970297031 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002467 24816252 NONHSAT211718.1 rs6968554 A N/A 7,824 european ancestry individuals EFO_0005664 N/A Associate Blood metabolite levels rs6968554-A of NONHSAT211718.1 is significantly associated with the blood metabolite levels by using GWAS analysis in 7,824 european ancestry individuals(p-value = 9E-14 ;OR = 0.064). 0.4 An atlas of genetic influences on human blood metabolites. genome-wide association analysis NONHSAT211718.1 lncRNA Blood metabolite measurement 0.33 AAGCTGGTAG(A > G,T)TCAGAAGTTC chr7: 17247482 0.4561,0.5439,. 0.38622101172273190,0.61376306065239551,0.00001592762487257 Region score:0.31; TSS score:0.18; Unmatched score:0.04; Average GERP:-0.03999009900990111 GeneName:AC073332.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000237773; TranscriptID:ENST00000643090; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AHR; CADD-Score:3; Consquence:5_prime_UTR; GeneID:ENSG00000106546; TranscriptID:ENST00000642825; AnnoType:5PRIME_UTR; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002468 27951730 H19 rs2839698 T N/A 313 AML patients EFO_0000222 N/A no significance for prognosis acute myeloid leukemia rs2839698-T of H19 and its dysfunction is not significantly associated with Acute myeloid leukemia by using analysis of sequence variation in 313 AML patients -0.4 Long non-coding RNA GAS5 polymorphism predicts a poor prognosis of acute myeloid leukemia in Chinese patients via affecting hematopoietic reconstitution. analysis of sequence variation H19 lncRNA Acute myeloid leukemia -0.33 ATGCCTGGGC(G > A)CCTACTCCAC chr11: 1997623 0.7071,0.2929 1 Region score:0.36; TSS score:0.46; Unmatched score:0.85; Average GERP:-0.6805287128712875 GeneName:H19; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000130600; TranscriptID:ENST00000414790; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LINC01219; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000232987; TranscriptID:ENST00000418612; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR675; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284010; TranscriptID:ENST00000390168; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000035875; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01972; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000275266; TranscriptID:ENST00000617997; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01973; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000274866; TranscriptID:ENST00000620857; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002469 22778062 SNORA20 rs2295901 T N/a N/a function N/A Not significant changes in the structure Function rs2295901-T of SNORA20 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORA20 snoRNA Function -0.049 TGTCTAGTCC(C > A,G,T)TGCAGAAGAG chr6: 159780263 0.2464,0.7536,.,. 0.24664723496432212,0.75332090978593272,.,0.00003185524974515 Region score:0.37; TSS score:0.09; Unmatched score:0.44; Average GERP:-0.7488475247524757 GeneName:ACAT2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000120437; TranscriptID:ENST00000367048; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORA20; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207392; TranscriptID:ENST00000384662; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TCP1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000120438; TranscriptID:ENST00000321394; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002470 26152337 has-mir-3130-1 rs2241347 C N/a 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs2241347-C of has-mir-3130-1 and its dysfunction is not significantly associated with hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors. -0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. case-control analysis hsa-mir-3130-1 miRNA Hepatocellular cancer -0.33 ACCCAGTCTC(C > T)GGTGCAGCCT chr2: 206783257 0.5749,0.4251 0.72368756371049949,0.27631243628950050 Region score:0.38; TSS score:0.12; Unmatched score:0.41; Average GERP:-0.14032499999999995 GeneName:FASTKD2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000118246; TranscriptID:ENST00000236980; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3130-1; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283469; TranscriptID:ENST00000637816; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3130-2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000263468; TranscriptID:ENST00000579223; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000634674; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002471 25673412 NONHSAT105096.2 rs4868125 C N/A up to 56,910 european ancestry men//up to 86,570 european ancestry women; up to 36,570 european ancestry men//30,172 european ancestry women//915 filipino ancestry men//735 filipino ancestry women//2,351 african american/afro-caribbean ancestry men//6,258 african american/afro-caribbean ancestry women//2,285 south asian ancestry men//506 south asian ancestry women//195 seychellois ancestry men//266 seychellois ancestry women EFO_0007789 N/A Associate Waist circumference adjusted for body mass index rs4868125-C of NONHSAT105096.2 is significantly associated with the waist circumference adjusted for body mass index by using GWAS analysis in up to 56,910 european ancestry men//up to 86,570 european ancestry women; up to 36,570 european ancestry men//30,172 european ancestry women//915 filipino ancestry men//735 filipino ancestry women//2,351 african american/afro-caribbean ancestry men//6,258 african american/afro-caribbean ancestry women//2,285 south asian ancestry men//506 south asian ancestry women//195 seychellois ancestry men//266 seychellois ancestry women(p-value = 3E-9 ;OR = 0.0215). 0.4 New genetic loci link adipose and insulin biology to body fat distribution. genome-wide association analysis NONHSAT105096.2 lncRNA Bmi-adjusted waist circumference 0.451 AAAGTGAAAA(C > G,T)GGCTCAAAAA chr5: 171854871 0.3576,0.6424,. 0.40744457186544342,0.59247579001019367,0.00007963812436289 Region score:0.38; TSS score:0.18; Unmatched score:0.09; Average GERP:-0.6535623762376236 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002471 28443625 NONHSAT105096.2 rs4868125 C N/A 97,400 european ancestry women//63,892 european ancestry men//5,829 european ancestry individuals//10,500 african american/afro-caribbean ancestry women//2,706 african american/afro-caribbean ancestry men//1,030 indian asian ancestry women//7,648 indian asian ancestry men//1,793 filipino ancestry women//2,944 hispanic/latino ancestry women//1,764 hispanic/latino ancestry men; 21,496 european ancestry women//24,385 european ancestry men//118,364 european ancestry individuals//2,326 african american/afro-caribbean ancestry women//855 african american/afro-caribbean ancestry men EFO_0007789 adjusted for BMI (adjusted for smoking behaviour) Associate Waist circumference adjusted for bmi (adjusted for smoking behaviour) rs4868125-C of NONHSAT105096.2 is significantly associated with the waist circumference adjusted for bmi (adjusted for smoking behaviour) by using GWAS analysis in 97,400 european ancestry women//63,892 european ancestry men//5,829 european ancestry individuals//10,500 african american/afro-caribbean ancestry women//2,706 african american/afro-caribbean ancestry men//1,030 indian asian ancestry women//7,648 indian asian ancestry men//1,793 filipino ancestry women//2,944 hispanic/latino ancestry women//1,764 hispanic/latino ancestry men; 21,496 european ancestry women//24,385 european ancestry men//118,364 european ancestry individuals//2,326 african american/afro-caribbean ancestry women//855 african american/afro-caribbean ancestry men(p-value = 1E-6 ;OR = 0.0183). 0.4 Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits. genome-wide association analysis NONHSAT105096.2 lncRNA Bmi-adjusted waist circumference 0.451 AAAGTGAAAA(C > G,T)GGCTCAAAAA chr5: 171854871 0.3576,0.6424,. 0.40744457186544342,0.59247579001019367,0.00007963812436289 Region score:0.38; TSS score:0.18; Unmatched score:0.09; Average GERP:-0.6535623762376236 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002472 26152337 hsa-mir-608 rs4919510 G N/a 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs4919510-G of hsa-mir-608 and its dysfunction is not significantly associated with hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors. -0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. case-control analysis hsa-mir-608 miRNA Hepatocellular cancer -0.33 TGGGACAGCT(C > G)CGTTTAAAAA chr10: 100975021 0.6362,0.3638 0.70305332568807339,0.29694667431192660 Region score:0.54; TSS score:0.1; Unmatched score:0.51; Average GERP:-0.18896138613861369 GeneName:MIR608; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207551; TranscriptID:ENST00000384820; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MRPL43; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000055950; TranscriptID:ENST00000318325; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SEMA4G; CADD-Score:2; Consquence:intron; GeneID:ENSG00000095539; TranscriptID:ENST00000210633; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002473 28199695 NONHSAT070890.2 rs10180282 T N/A 84,724 european ancestry individuals EFO_0008378 N/A Associate Mosquito bite size rs10180282-T of NONHSAT070890.2 is significantly associated with the mosquito bite size by using GWAS analysis in 84,724 european ancestry individuals(p-value = 7E-6 ;OR = 0.0234796). 0.4 GWAS of self-reported mosquito bite size, itch intensity and attractiveness to mosquitoes implicates immune-related predisposition loci. genome-wide association analysis NONHSAT070890.2 lncRNA Mosquito bite reaction size measurement 0.33 CTCACTCACA(T > A,C)CCTTGAAGCA chr2: 60351708 0.3393,.,0.6607 0.41602159785932721,0.00039022680937818,0.58358817533129459 Region score:0.31; TSS score:0.68; Unmatched score:0.83; Average GERP:1.3241160396039606 GeneName:MIR4432HG; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000228590; TranscriptID:ENST00000441598; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002474 28540026 NONHSAT177845.1 rs72934570 ? N/A up to 6,197 european ancestry asd cases//up to 7,377 european ancestry controls//up to 1,190 asd cases//up to 1,190 controls EFO_0003756 N/A Associate Autism spectrum disorder rs72934570-? of NONHSAT177845.1 is significantly associated with the autism spectrum disorder by using GWAS analysis in up to 6,197 european ancestry asd cases//up to 7,377 european ancestry controls//up to 1,190 asd cases//up to 1,190 controls(p-value = 1E-9 ;OR = 1.1235955). 0.4 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. genome-wide association analysis NONHSAT177845.1 lncRNA Autism spectrum disorder 0.33 ACCTCCGTGT(C > T)CTGGTCTGAC chr18: 55865958 0.9712,0.02875 0.94522489806320081,0.05477510193679918 Region score:0.6; TSS score:0.69; Unmatched score:0.47; Average GERP:1.048333663366337 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002475 28928442 NONHSAT207041.1 rs115166140 ? N/A 16,711 european ancestry cases//118,152 european ancestry controls EFO_0008401 N/A Associate Shingles rs115166140-? of NONHSAT207041.1 is significantly associated with the shingles by using GWAS analysis in 16,711 european ancestry cases//118,152 european ancestry controls(p-value = 1E-9 ;OR = 0.1623). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. genome-wide association analysis NONHSAT207041.1 lncRNA Susceptibility to shingles measurement 0.33 TCAACACTTC(A > G)CTTTCAACAA chr6: 29094774 0.9673,0.03275 0.96907651630988786,0.03092348369011213 Region score:0.3; TSS score:0.11; Unmatched score:0.01; Average GERP:0.11801980198019779 GeneName:OR2J1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000204702; TranscriptID:ENST00000641659; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002476 27863252 NONHSAT168656.1 rs175714 C N/A 171,643 european ancestry individuals EFO_0004587 N/A Associate Lymphocyte counts rs175714-C of NONHSAT168656.1 is significantly associated with the lymphocyte counts by using GWAS analysis in 171,643 european ancestry individuals(p-value = 3E-11 ;OR = 0.02436534). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT168656.1 lncRNA Lymphocyte count 0.33 AACTGCCCCC(T > C)ACTGGAGAAA chr14: 75515513 0.5154,0.4846 0.49960977319062181,0.50039022680937818 Region score:0.36; TSS score:0.41; Unmatched score:0.67; Average GERP:-0.5177118811881187 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000502439; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002477 27863252 NONHSAT144816.2 rs8068017 C N/A 170,702 european ancestry individuals EFO_0004833 N/A Associate Neutrophil count rs8068017-C of NONHSAT144816.2 is significantly associated with the neutrophil count by using GWAS analysis in 170,702 european ancestry individuals(p-value = 2E-9 ;OR = 0.02369169). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT144816.2 lncRNA Neutrophil count 0.33 CCACTACACC(T > A,C)GGCTAGTTTT chr17: 1417822 0.3413,.,0.6587 0.30352478338430173,0.00006371049949031,0.69641150611620795 Region score:0.24; TSS score:0.2; Unmatched score:0.05; Average GERP:-0.06180000000000001 GeneName:CRK; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000167193; TranscriptID:ENST00000300574; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002478 20031603 NONHSAT184816.1 rs10496166 A N/A 2,325 european ancestry individuals EFO_0003777 N/A Associate Rr interval (heart rate) rs10496166-A of NONHSAT184816.1 is significantly associated with the rr interval (heart rate) by using GWAS analysis in 2,325 european ancestry individuals(p-value = 4E-6 ;OR = 0.18). 0.4 A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project. genome-wide association analysis NONHSAT184816.1 lncRNA Heart disease 0.33 GGCTACTATG(G > A)ATGAAAGGGC chr2: 68836777 0.6593,0.3407 0.73862767584097859,0.26137232415902140 Region score:0.1; TSS score:0.15; Unmatched score:0.39; Average GERP:-0.5220722772277228 GeneName:LINC01888; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000237576; TranscriptID:ENST00000457602; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LINC01890; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000228329; TranscriptID:ENST00000415448; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002479 26152337 hsa-mir-1283-1 rs57111412 G N/A 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A no significance for risk hepatocellular carcinoma rs57111412-G of hsa-mir-1283-1 and its dysfunction is not significantly associated with Hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors -0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. case-control analysis hsa-mir-1283-1 miRNA Hepatocellular carcinoma -0.33 ATCTCAAGCT(A > G)TGAGTCTACA chr19: 53688489 0.7081,0.2919 0.79967029816513761,0.20032970183486238 Region score:0.57; TSS score:0.21; Unmatched score:0.51; Average GERP:0.09499999999999979 GeneName:MIR1283-1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000221421; TranscriptID:ENST00000408494; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR515-2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207615; TranscriptID:ENST00000384883; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR519C; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207788; TranscriptID:ENST00000385053; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR520A; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207594; TranscriptID:ENST00000384862; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002480 24903457 NONHSAT182293.1 rs13390641 A N/A 7,486 korean ancestry individuals; 4,544 east asian ancestry individuals EFO_0006335 N/A Associate Blood pressure rs13390641-A of NONHSAT182293.1 is significantly associated with the blood pressure by using GWAS analysis in 7,486 korean ancestry individuals; 4,544 east asian ancestry individuals(p-value = 4E-8 ;OR = 14.4). 0.4 Identification of a genetic variant at 2q12.1 associated with blood pressure in East Asians by genome-wide scan including gene-environment interactions. genome-wide association analysis NONHSAT182293.1 lncRNA Systolic blood pressure 0.33 GCATTTTACT(G > A)CTTAATTGTA chr2: 103419975 0.871,0.129 0.87503185524974515,0.12496814475025484 Region score:0.42; TSS score:0.39; Unmatched score:0.17; Average GERP:0.13453663366336643 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002481 27863252 NONHSAT175429.1 rs56378716 G N/A 171,542 european ancestry individuals EFO_0007990 N/A Associate Neutrophil percentage of white cells rs56378716-G of NONHSAT175429.1 is significantly associated with the neutrophil percentage of white cells by using GWAS analysis in 171,542 european ancestry individuals(p-value = 2E-15 ;OR = 0.1262833). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT175429.1 lncRNA Neutrophil percentage of leukocytes 0.33 TTGCATGAAC(A > G)TGAGTGAGCG chr17: 58279141 0.9952,0.004792 0.99255383537206931,0.00744616462793068 Region score:0.5; TSS score:0.49; Unmatched score:0.76; Average GERP:2.4658316831683167 GeneName:MPO; CADD-Score:7; Consquence:missense; GeneID:ENSG00000005381; TranscriptID:ENST00000225275; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000559774; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002482 27910778 miR200b rs72563729 ? N/A cancer EFO_0001071 N/A no significance for risk lung carcinoma rs72563729-? of hsa-mir-200b and its dysfunction is not significantly associated with Lung carcinoma by using analysis of sequence variation in cancer -0.4 miRSNPs of miR1274 and miR3202 Genes that Target MeCP2 and DNMT3b Are Associated with Lung Cancer Risk: A Study Conducted on MassARRAY Genotyping. analysis of sequence variation hsa-mir-200b miRNA Lung carcinoma -0.33 TAATGATGAC(G > A,C)GCGGAGCCCT chr1: 1167183 0.9918,0.008187,. 0.98914532364933741,0.01085467635066258,. Region score:0.69; TSS score:0.61; Unmatched score:0.83; Average GERP:2.2053158415841594 GeneName:AL390719.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000272141; TranscriptID:ENST00000606993; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR200A; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207607; TranscriptID:ENST00000384875; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR200B; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207730; TranscriptID:ENST00000384997; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR429; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000198976; TranscriptID:ENST00000362106; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002483 22889924 NONHSAT214350.1 rs769111 T N/A 778 european ancestry cases//4,414 european ancestry controls//242 ashkenazi jewish cases//354 ashkenazi jewish controls//265 french canadian founder cases//196 french canadian founder controls; 211 latin american cases//285 latin american controls EFO_0004895 N/A Associate Tourette syndrome rs769111-T of NONHSAT214350.1 is significantly associated with the tourette syndrome by using GWAS analysis in 778 european ancestry cases//4,414 european ancestry controls//242 ashkenazi jewish cases//354 ashkenazi jewish controls//265 french canadian founder cases//196 french canadian founder controls; 211 latin american cases//285 latin american controls(p-value = 6E-6 ;OR = 1.23). 0.4 Genome-wide association study of Tourette's syndrome. genome-wide association analysis NONHSAT214350.1 lncRNA Tourette syndrome 0.33 ATAGATTCCA(T > C,G)TTCTAGCTTT chr7: 12020180 0.5809,.,0.4191 0.58025133792048929,.,0.41974866207951070 Region score:0.37; TSS score:0.25; Unmatched score:0.03; Average GERP:-0.3422080198019802 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002484 27919232 miRNA-27a rs895819 C N/A normotensive (n=95; 45 HIV+; 80 analysed for rs895819T?>C, age range: 16-46 years) and PE patients (n=98; 45 HIV+; 56 analysed for rs895819T>C), age range: 16-42 years). EFO_0001073 N/A increasing risk obesity rs895819-C of hsa-mir-27a and its dysfunction is significantly associated with the increasing risk of Obesity by using case-control analysis in normotensive (n=95; 45 HIV+; 80 analysed for rs895819T?>C, age range: 16-46 years) and PE patients (n=98; 45 HIV+; 56 analysed for rs895819T>C), age range: 16-42 years). 0.4 microRNA-27a rs895819 is associated with obesity in HIV infected preeclamptic Black South African women on HAART. case-control analysis hsa-mir-27a miRNA Obesity 0.33 CACGACTTGG(T > C)GTGGACCCTG chr19: 13836478 0.6362,0.3638 0.63091711264016309,0.36908288735983690 Region score:0.57; TSS score:0.41; Unmatched score:0.75; Average GERP:2.158386138613861 GeneName:AC020916.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000267519; TranscriptID:ENST00000587762; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR23A; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207980; TranscriptID:ENST00000385245; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR24-2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284387; TranscriptID:ENST00000386972; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR27A; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207808; TranscriptID:ENST00000385073; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000107447; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ZSWIM4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000132003; TranscriptID:ENST00000254323; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002485 25918132 NONHSAT067392.2 rs116520962 A N/A 74 european ancestry cases//824 european ancestry controls EFO_0000270 Diisocyanate-induced Associate Diisocyanate-induced asthma rs116520962-A of NONHSAT067392.2 is significantly associated with the diisocyanate-induced asthma by using GWAS analysis in 74 european ancestry cases//824 european ancestry controls(p-value = 2E-6 ;OR = 15.23). 0.4 Genome-Wide Association Study Identifies Novel Loci Associated With Diisocyanate-Induced Occupational Asthma. genome-wide association analysis NONHSAT067392.2 lncRNA Asthma 0.33 GGCTGCAAGT(G > A)CAGACTGTAT chr19: 50895171 0.9844,0.01558 0.98045680428134556,0.01954319571865443 Region score:0.25; TSS score:0.41; Unmatched score:0.19; Average GERP:-0.29600990099009905 GeneName:KLKP1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000197588; TranscriptID:ENST00000597246; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002486 27328823 mir-548h-4 rs73235381 T N/a 17,008 ad cases and 37,154 controls EFO_0000249 N/A Decreasing risk Alzheimer's disease rs73235381-T of mir-548h-4 and its dysfunction is significantly associated with the decreasing risk of Alzheimer's disease by using case-control analysis in 17,008 AD cases and 37,154 controls. 0.4 Genome-wide identification of microRNA-related variants associated with risk of Alzheimer's disease. case-control analysis hsa-mir-548h-4 miRNA Alzheimers disease 0.33 AAAGTAATTG(C > T)GGTTTTTGTC chr8: 27048885 0.9607,0.03934 0.96076229612640163,0.03923770387359836 Region score:0.33; TSS score:0.04; Unmatched score:0.21; Average GERP:-0.6119360655737703 GeneName:MIR548H4; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000221616; TranscriptID:ENST00000408689; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002487 24760009 pri-let-7a-2 rs629367 C Recessive 107 gastric cancer patients, 107 atrophic gastritis (ag), and matched 124 controls EFO_0000178 N/A Increased risk and poor prognosis Gastric cancer rs629367-C of pri-let-7a-2 and its dysfunction is significantly associated with the increasing risk and poor prognosis of gastric cancer by using case-control analysis in 107 gastric cancer patients, 107 atrophic gastritis (AG), and matched 124 controls . 0.4 A new polymorphism biomarker rs629367 associated with increased risk and poor survival of gastric cancer in chinese by up-regulated miRNA-let-7a expression. case-control analysis hsa-let-7a-2 miRNA Gastric cancer 0.33 ACAATGGACA(C > A)CTGATATACT chr11: 122146306 0.1486,0.8514 0.12741303516819571,0.87258696483180428 Region score:0.41; TSS score:0.3; Unmatched score:0.29; Average GERP:0.0035059999999999957 GeneName:MIR100HG; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000255248; TranscriptID:ENST00000534782; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIRLET7A2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000198975; TranscriptID:ENST00000362105; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000444950; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002488 22218224 miR-146a rs2431697 T N/A 1324 SLE patients and 1453 healthy controls EFO_0002690 N/A increasing risk systemic lupus erythematosus rs2431697-T of hsa-mir-146a and its dysfunction is significantly associated with the increasing risk of Systemic lupus erythematosus by using genome-wide association analysis in 1324 SLE patients and 1453 healthy controls 0.4 Genetic association of miRNA-146a with systemic lupus erythematosus in Europeans through decreased expression of the gene. genome-wide association analysis hsa-mir-146a miRNA Systemic lupus erythematosus 0.33 ATAAAAAACC(T > C)CGATTTAGAA chr5: 160452971 0.6246,0.3754 0.56397330530071355,0.43602669469928644 Region score:0.63; TSS score:0.72; Unmatched score:0.48; Average GERP:2.236436633663366 GeneName:MIR3142HG; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000253522; TranscriptID:ENST00000642173; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002489 24816252 NONHSAT176679.1 rs4625783 T N/A 7,824 european ancestry individuals EFO_0005664 N/A Associate Blood metabolite levels rs4625783-T of NONHSAT176679.1 is significantly associated with the blood metabolite levels by using GWAS analysis in 7,824 european ancestry individuals(p-value = 4E-13 ;OR = 0.019). 0.4 An atlas of genetic influences on human blood metabolites. genome-wide association analysis NONHSAT176679.1 lncRNA Blood metabolite measurement 0.33 GCGTCAAGTC(T > C)GCTGCCCACC chr17: 82128519 0.5799,0.4201 0.47778892711518858,0.52221107288481141 Region score:0.21; TSS score:0.27; Unmatched score:0.43; Average GERP:-0.7807346534653463 GeneName:CCDC57; CADD-Score:7; Consquence:missense; GeneID:ENSG00000176155; TranscriptID:ENST00000392347; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002490 28736931 NONHSAT174693.1 rs76069656 ? N/A 781 european ancestry individuals//138 african american ancestry individuals//345 unknown ancestry individuals; EFO_0001360 fenofibrate Associate Triglyceride change in response to fenofibrate in statin-treated type 2 diabetes rs76069656-? of NONHSAT174693.1 is significantly associated with the triglyceride change in response to fenofibrate in statin-treated type 2 diabetes by using GWAS analysis in 781 european ancestry individuals//138 african american ancestry individuals//345 unknown ancestry individuals; (p-value = 5E-7 ;OR = 0.103). 0.4 Genetic Variants in HSD17B3, SMAD3, and IPO11 Impact Circulating Lipids in Response to Fenofibrate in Individuals With Type 2 Diabetes. genome-wide association analysis NONHSAT174693.1 lncRNA Type ii diabetes mellitus 0.33 TTCTCTTTGC(C > A,G,T)GTTCATGGGA chr16: 87822832 0.9597,0.04034,.,. 0.96478402140672782,0.03516023190621814,0.00003185524974515,0.00002389143730886 Region score:0.41; TSS score:0.55; Unmatched score:0.35; Average GERP:-0.8890920792079212 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000545570; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000545572; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002491 28448500 NONHSAT213292.1 rs1055144 T N/A 2,518 african american women//83,707 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//52,993 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men EFO_0007788 in active individuals Associate Waist-to-hip ratio adjusted for bmi in active individuals rs1055144-T of NONHSAT213292.1 is significantly associated with the waist-to-hip ratio adjusted for bmi in active individuals by using GWAS analysis in 2,518 african american women//83,707 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//52,993 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men(p-value = 6E-13 ;OR = 0.0404). 0.4 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. genome-wide association analysis NONHSAT213292.1 lncRNA Bmi-adjusted waist-hip ratio 0.451 CTCTCTTTTC(C > T)TCTCTGTGTT chr7: 25831489 0.7494,0.2506 0.83870890672782874,0.16129109327217125 Region score:0.53; TSS score:0.52; Unmatched score:0.27; Average GERP:0.42235900990098985 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000819552; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002491 28448500 NONHSAT213292.1 rs1055144 ? N/A 2,518 african american women//83,707 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//52,993 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men EFO_0007788 joint analysis for main effect and physical activity interaction Associate Waist-to-hip ratio adjusted for bmi (joint analysis for main effect and physical activity interaction) rs1055144-? of NONHSAT213292.1 is significantly associated with the waist-to-hip ratio adjusted for bmi (joint analysis for main effect and physical activity interaction) by using GWAS analysis in 2,518 african american women//83,707 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//52,993 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men(p-value = 2E-14 ;OR = ?). 0.4 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. genome-wide association analysis NONHSAT213292.1 lncRNA Bmi-adjusted waist-hip ratio 0.451 CTCTCTTTTC(C > T)TCTCTGTGTT chr7: 25831489 0.7494,0.2506 0.83870890672782874,0.16129109327217125 Region score:0.53; TSS score:0.52; Unmatched score:0.27; Average GERP:0.42235900990098985 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000819552; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002492 19734545 NONHSAT018916.2 rs10501293 ? N/A up to 1,295 individuals EFO_0003926 N/A Associate Cognitive performance rs10501293-? of NONHSAT018916.2 is significantly associated with the cognitive performance by using GWAS analysis in up to 1,295 individuals(p-value = 5E-6 ;OR = ?). 0.4 A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB. genome-wide association analysis NONHSAT018916.2 lncRNA Neuropsychological test 0.33 AGTTTACAAG(T > C,G)AGGGAATCTT chr11: 43064544 0.7985,.,0.2015 0.78085977319062181,0.00000796381243628,0.21913226299694189 Region score:0.37; TSS score:0.13; Unmatched score:0.1; Average GERP:-0.5922872277227725 GeneName:AC009643.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000254725; TranscriptID:ENST00000532030; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC009643.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000271028; TranscriptID:ENST00000603543; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002493 28732738 miR-499a rs3746444 C Dominant 262 cases (chronic periodontitis patients) and 288 controls (individuals with healthy gingiva) EFO_0006343 N/A increasing risk chronic periodontitis rs3746444-C of hsa-mir-499a and its dysfunction is significantly associated with the increasing risk of Chronic periodontitis by using case-control analysis in 262 cases (chronic periodontitis patients) and 288 controls (individuals with healthy gingiva) 0.4 Association of microRNA-125a and microRNA-499a polymorphisms in chronic periodontitis in a sample south Indian population: A hospital-based genetic association study. case-control analysis hsa-mir-499a miRNA Chronic periodontitis 0.33 CCACGTGAAC(A > G)TCACAGCAAG chr20: 34990448 0.8165,0.1835 0.81708715596330275,0.18291284403669724 Region score:0.79; TSS score:0.85; Unmatched score:0.95; Average GERP:3.757564356435645 GeneName:MIR499A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207635; TranscriptID:ENST00000384903; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR499B; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283441; TranscriptID:ENST00000636498; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYH7B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000078814; TranscriptID:ENST00000262873; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002494 25865494 NONHSAT097324.2 rs13136331 T N/A 3,545 african americans individuals//12,965 european ancestry women//8,625 european ancestry men EFO_0007118 N/A Associate Sitting height ratio rs13136331-T of NONHSAT097324.2 is significantly associated with the sitting height ratio by using GWAS analysis in 3,545 african americans individuals//12,965 european ancestry women//8,625 european ancestry men(p-value = 5E-6 ;OR = 0.048). 0.4 Genome-wide Analysis of Body Proportion Classifies Height-Associated Variants by Mechanism of Action and Implicates Genes Important for Skeletal Development. genome-wide association analysis NONHSAT097324.2 lncRNA Sitting height ratio 0.33 CTTTGGCCAA(C > T)TCATTTGCAA chr4: 87785929 0.6945,0.3055 0.68770705912334352,0.31229294087665647 Region score:0.28; TSS score:0.18; Unmatched score:0.37; Average GERP:0.13029702970297014 GeneName:CHCHD2P7; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000249973; TranscriptID:ENST00000508008; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002495 23459936 NONHSAT119567.2 rs2521634 ? N/A 4,504 european ancestry individuals; 656 european ancestry and african american individuals EFO_0000649 N/A Associate Periodontitis rs2521634-? of NONHSAT119567.2 is significantly associated with the periodontitis by using GWAS analysis in 4,504 european ancestry individuals; 656 european ancestry and african american individuals(p-value = 4E-7 ;OR = 1.49). 0.4 Exploring the genetic basis of chronic periodontitis: a genome-wide association study. genome-wide association analysis NONHSAT119567.2 lncRNA Periodontitis 0.33 CTGGGGGGCA(G > A,C)GTTCTTGGAA chr7: 24338421 0.7638,0.2362,. 0.74622515290519877,0.25372706422018348,0.00004778287461773 Region score:0.24; TSS score:0.35; Unmatched score:0.1; Average GERP:-0.8523237623762373 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002496 29059683 NONHSAT039747.2 rs2295389 G N/A 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls EFO_0000305 N/A Associate Breast cancer rs2295389-G of NONHSAT039747.2 is significantly associated with the breast cancer by using GWAS analysis in 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls(p-value = 2E-6 ;OR = 0.0345). 0.4 Association analysis identifies 65 new breast cancer risk loci. genome-wide association analysis NONHSAT039747.2 lncRNA Breast cancer 0.33 TTGTTGACCT(C > G)TCAATTCCTA chr14: 100851974 0.7258,0.2742 0.72127452854230377,0.27872547145769622 Region score:0.39; TSS score:0.24; Unmatched score:0.38; Average GERP:-0.06727930693069306 GeneName:AL117190.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000258399; TranscriptID:ENST00000637474; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AL117190.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000258663; TranscriptID:ENST00000554041; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MEG3; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000214548; TranscriptID:ENST00000524035; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR770; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000211574; TranscriptID:ENST00000390219; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000276115; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002497 24888363 MIR137 rs71738863 ? Dominant 345 bd patients, 426 sz patients and 1376 healthy individuals, all unrelated, in v?sterbotten region of northern sweden EFO_0000289 N/A Increasing risk Bipolar disorder rs71738863-? of MIR137 and its dysfunction is significantly associated with the increasing risk of bipolar disorder by using case-control analysis in 345 BD patients, 426 SZ patients and 1376 healthy individuals, all unrelated, in V?sterbotten region of Northern Sweden. By using the disease cell lines or tissues, the interference and mutation of MIR137 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 MIR137 variants identified in psychiatric patients affect synaptogenesis and neuronal transmission gene sets. case-control analysis; Function hsa-mir-137 miRNA Bipolar disorder 0.593 N/A N/A N/A N/A N/A N/A NCRV0000002498 25387704 NONHSAT192181.1 rs7985 ? N/A 2,383 european ancestry adolescents and 1,643 european ancestry adults from 1,613 families EFO_0000677 N/A Associate Electroencephalogram traits rs7985-? of NONHSAT192181.1 is significantly associated with the electroencephalogram traits by using GWAS analysis in 2,383 european ancestry adolescents and 1,643 european ancestry adults from 1,613 families(p-value = 3E-6 ;OR = 0.068). 0.4 Heritability and molecular-genetic basis of resting EEG activity: a genome-wide association study. genome-wide association analysis NONHSAT192181.1 lncRNA Mental or behavioural disorder 0.33 GAAATTCTTA(A > G)AGTAACTTCT chr22: 26670572 0.6114,0.3886 0.62091456422018348,0.37908543577981651 Region score:0.45; TSS score:0.34; Unmatched score:0.47; Average GERP:0.00849 GeneName:MIAT; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000225783; TranscriptID:ENST00000613780; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0128; mirSVR-E:-13.77 | GeneName:MIATNB; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000244625; TranscriptID:ENST00000437071; AnnoType:UPSTREAM; mirSVR-Score:-0.0128; mirSVR-E:-13.77 | GeneName:RF01875; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277941; TranscriptID:ENST00000618919; AnnoType:UPSTREAM; mirSVR-Score:-0.0128; mirSVR-E:-13.77 | GeneName:RF01876; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000275942; TranscriptID:ENST00000613562; AnnoType:UPSTREAM; mirSVR-Score:-0.0128; mirSVR-E:-13.77 | GeneName:RF01877; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000276991; TranscriptID:ENST00000613656; AnnoType:UPSTREAM; mirSVR-Score:-0.0128; mirSVR-E:-13.77 | GeneName:Z99774.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000206028; TranscriptID:ENST00000382641; AnnoType:INTRONIC; mirSVR-Score:-0.0128; mirSVR-E:-13.77 | NCRV0000002499 22778062 SNORD116-5 rs7402542 G N/a N/a function N/A Not significant changes in the structure Function rs7402542-G of SNORD116-5 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD116-5 snoRNA Function -0.049 CGTTCTCATC(A > G)GAACTGAGGT chr15: 25062415 0.03035,0.9696 0.03254013761467889,0.96745986238532110 Region score:0.27; TSS score:0.06; Unmatched score:0.51; Average GERP:0.48518514851485117 GeneName:SNHG14; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000224078; TranscriptID:ENST00000640631; AnnoType:INTRONIC; mirSVR-Score:-0.6721; mirSVR-E:-16.32 | GeneName:SNORD116-4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000275529; TranscriptID:ENST00000384733; AnnoType:DOWNSTREAM; mirSVR-Score:-0.6721; mirSVR-E:-16.32 | GeneName:SNORD116-5; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207191; TranscriptID:ENST00000384462; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.6721; mirSVR-E:-16.32 | GeneName:SNORD116-6; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207442; TranscriptID:ENST00000384711; AnnoType:UPSTREAM; mirSVR-Score:-0.6721; mirSVR-E:-16.32 | NCRV0000002500 27863252 NONHSAT135373.2 rs2157770 G N/A 164,454 european ancestry individuals EFO_0004584 N/A Associate Mean platelet volume rs2157770-G of NONHSAT135373.2 is significantly associated with the mean platelet volume by using GWAS analysis in 164,454 european ancestry individuals(p-value = 2E-28 ;OR = 0.04436646). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT135373.2 lncRNA Mean platelet volume 0.33 GGGGTGCAGT(A > G)TAAAAAGCCC chr9: 134056342 0.5763,0.4237 0.67403319317023445,0.32596680682976554 Region score:0.27; TSS score:0.21; Unmatched score:0.66; Average GERP:-0.6630695049504948 GeneName:AL445931.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000235138; TranscriptID:ENST00000412181; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:BRD3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000169925; TranscriptID:ENST00000303407; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002501 22778062 SNORA5B rs7776981 T N/a N/a function N/A Not significant changes in the structure Function rs7776981-T of SNORA5B and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORA5B snoRNA Function -0.049 ACCATAGACA(G > A)GGCAGGCACT chr7: 45106071 0.8972,0.1028 0.91011244903160040,0.08988755096839959 Region score:0.54; TSS score:0.26; Unmatched score:0.56; Average GERP:0.856328712871287 GeneName:SNORA5A; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000206838; TranscriptID:ENST00000384111; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORA5B; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000200656; TranscriptID:ENST00000363786; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORA5C; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000201772; TranscriptID:ENST00000364902; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TBRG4; CADD-Score:2; Consquence:intron; GeneID:ENSG00000136270; TranscriptID:ENST00000258770; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002502 24740842 MIR605 rs2043556 G Dominant 320 Asian and 526 Caucasian men with pathologically organ-confined prostate cancer who had a median follow-up of 54.7 and 88.8 months after RP, respectively. EFO_0001663 N/A poor prognosis prostate carcinoma rs2043556-G of hsa-mir-605 and its dysfunction is significantly associated with the poor prognosis of Prostate carcinoma by using case-control analysis in 320 Asian and 526 Caucasian men with pathologically organ-confined prostate cancer who had a median follow-up of 54.7 and 88.8 months after RP, respectively. 0.4 Genetic variants in microRNAs and microRNA target sites predict biochemical recurrence after radical prostatectomy in localized prostate cancer. case-control analysis hsa-mir-605 miRNA Prostate carcinoma 0.33 AGATTTAGAA(T > C)CAAGTTAGGA chr10: 51299646 0.7404,0.2596 0.75316163353720693,0.24683836646279306 Region score:0.25; TSS score:0.08; Unmatched score:0.47; Average GERP:-0.3992871287128711 GeneName:AC069079.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000235279; TranscriptID:ENST00000419889; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR605; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207813; TranscriptID:ENST00000385078; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PRKG1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000185532; TranscriptID:ENST00000373980; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002503 24529757 NONHSAT181534.1 rs10495822 ? N/A 250 han chinese ancestry cases//250 han chinese ancestry controls EFO_0001357 N/A Associate Amyotrophic lateral sclerosis (sporadic) rs10495822-? of NONHSAT181534.1 is significantly associated with the amyotrophic lateral sclerosis (sporadic) by using GWAS analysis in 250 han chinese ancestry cases//250 han chinese ancestry controls(p-value = 8E-6 ;OR = ?). 0.4 Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations. genome-wide association analysis NONHSAT181534.1 lncRNA Sporadic amyotrophic lateral sclerosis 0.33 CTATCTTGCG(G > T)CATAATTAGA chr2: 34447854 0.8181,0.1819 0.74197247706422018,0.25802752293577981 Region score:0.4; TSS score:0.2; Unmatched score:0.12; Average GERP:-0.14017871287128708 GeneName:LINC01320; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000228262; TranscriptID:ENST00000650021; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000602220; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002504 28537254 NONHSAT169687.1 rs142903734 AAG N/A up to 11,988 european ancestry cases//up to 275,335 european ancestry controls; 7,044 european ancestry cases//11,434 european ancestry controls EFO_0000676 N/A Associate Psoriasis rs142903734-AAG of NONHSAT169687.1 is significantly associated with the psoriasis by using GWAS analysis in up to 11,988 european ancestry cases//up to 275,335 european ancestry controls; 7,044 european ancestry cases//11,434 european ancestry controls(p-value = 7E-9 ;OR = 1.12). 0.4 Large scale meta-analysis characterizes genetic architecture for common psoriasis associated variants. genome-wide association analysis NONHSAT169687.1 lncRNA Psoriasis 0.33 CTTATAAATT(AAG > A)AGACCTGGAG chr14: 98202441 0.9251,0.07488 0.86303038990825688,0.13696961009174311 N/A GeneName:AL163932.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000259097; TranscriptID:ENST00000555776; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000506967; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002505 26095531 miR-146a-5p rs2910164 C Recessive 103 patients with ad and 206 healthy individuals from shanghai fengxian central hospital EFO_0000249 N/A Increasing risk Alzheimer's disease rs2910164-C of miR-146a-5p and its dysfunction is significantly associated with the increasing risk of Alzheimer's disease by using case-control analysis in 103 patients with AD and 206 healthy individuals from Shanghai Fengxian Central Hospital. By using the disease cell lines or tissues, the interference and mutation of miR-146a-5p has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 A single nucleotide polymorphism in primary-microRNA-146a reduces the expression of mature microRNA-146a in patients with Alzheimer's disease and is associated with the pathogenesis of Alzheimer's disease. case-control analysis; Function hsa-mir-146a miRNA Alzheimers disease 0.593 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 N/A 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002506 21665990 NONHSAT060783.2 rs2230199 C N/A 2,594 european ancestry cases//4,134 european ancestry controls; 5,640 european ancestry cases//52,174 european ancestry controls EFO_0001365 N/A Associate Age-related macular degeneration rs2230199-C of NONHSAT060783.2 is significantly associated with the age-related macular degeneration by using GWAS analysis in 2,594 european ancestry cases//4,134 european ancestry controls; 5,640 european ancestry cases//52,174 european ancestry controls(p-value = 5E-29 ;OR = 1.53). 0.4 Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration. genome-wide association analysis NONHSAT060783.2 lncRNA Age-related macular degeneration 0.646 AACTTGTTGC(G > C,T)CCCCTTTTCT chr19: 6718376 0.9127,0.08726,. 0.86694062181447502,0.13305937818552497,. Region score:0.2; TSS score:0.3; Unmatched score:0.52; Average GERP:-0.5302871287128715 GeneName:AC008760.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000276980; TranscriptID:ENST00000614781; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:C3; CADD-Score:7; Consquence:missense; GeneID:ENSG00000125730; TranscriptID:ENST00000245907; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000583421; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000583423; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002506 20385819 NONHSAT060783.2 rs2230199 C N/A 2,157 european ancestry cases//1,150 european ancestry controls; 7,892 european ancestry cases//5,998 european ancestry controls//678 japanese ancestry cases//336 japanese ancestry controls EFO_0001365 N/A Associate Age-related macular degeneration rs2230199-C of NONHSAT060783.2 is significantly associated with the age-related macular degeneration by using GWAS analysis in 2,157 european ancestry cases//1,150 european ancestry controls; 7,892 european ancestry cases//5,998 european ancestry controls//678 japanese ancestry cases//336 japanese ancestry controls(p-value = 1E-10 ;OR = 1.74). 0.4 Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration. genome-wide association analysis NONHSAT060783.2 lncRNA Age-related macular degeneration 0.646 AACTTGTTGC(G > C,T)CCCCTTTTCT chr19: 6718376 0.9127,0.08726,. 0.86694062181447502,0.13305937818552497,. Region score:0.2; TSS score:0.3; Unmatched score:0.52; Average GERP:-0.5302871287128715 GeneName:AC008760.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000276980; TranscriptID:ENST00000614781; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:C3; CADD-Score:7; Consquence:missense; GeneID:ENSG00000125730; TranscriptID:ENST00000245907; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000583421; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000583423; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002506 26691988 NONHSAT060783.2 rs2230199 ? N/A 16,144 european ancestry cases//17,832 european ancestry controls; 473 asian ancestry cases//1,099 asian ancestry controls//52 african ancestry cases//361 african ancestry cases//254 other non-european ancestry cases//694 other non-european ancestry controls EFO_0001365 N/A Associate Advanced age-related macular degeneration rs2230199-? of NONHSAT060783.2 is significantly associated with the advanced age-related macular degeneration by using GWAS analysis in 16,144 european ancestry cases//17,832 european ancestry controls; 473 asian ancestry cases//1,099 asian ancestry controls//52 african ancestry cases//361 african ancestry cases//254 other non-european ancestry cases//694 other non-european ancestry controls(p-value = 4E-69 ;OR = 1.43). 0.4 A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants. genome-wide association analysis NONHSAT060783.2 lncRNA Age-related macular degeneration 0.646 AACTTGTTGC(G > C,T)CCCCTTTTCT chr19: 6718376 0.9127,0.08726,. 0.86694062181447502,0.13305937818552497,. Region score:0.2; TSS score:0.3; Unmatched score:0.52; Average GERP:-0.5302871287128715 GeneName:AC008760.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000276980; TranscriptID:ENST00000614781; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:C3; CADD-Score:7; Consquence:missense; GeneID:ENSG00000125730; TranscriptID:ENST00000245907; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000583421; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000583423; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002506 23455636 NONHSAT060783.2 rs2230199 C N/A 6,713 european ancestry cases//48,402 european ancestry contols//110 southern indian ancestry cases//119 southern indian ancestry controls//827 japanese ancestry cases//3,323 japanese ancestry controls; 9,070 european ancestry cases//7,683 european ancestry contols//461 east asian ancestry cases//547 east asian ancestry controls EFO_0001365 N/A Associate Age-related macular degeneration rs2230199-C of NONHSAT060783.2 is significantly associated with the age-related macular degeneration by using GWAS analysis in 6,713 european ancestry cases//48,402 european ancestry contols//110 southern indian ancestry cases//119 southern indian ancestry controls//827 japanese ancestry cases//3,323 japanese ancestry controls; 9,070 european ancestry cases//7,683 european ancestry contols//461 east asian ancestry cases//547 east asian ancestry controls(p-value = 1E-41 ;OR = 1.42). 0.4 Seven new loci associated with age-related macular degeneration. genome-wide association analysis NONHSAT060783.2 lncRNA Age-related macular degeneration 0.646 AACTTGTTGC(G > C,T)CCCCTTTTCT chr19: 6718376 0.9127,0.08726,. 0.86694062181447502,0.13305937818552497,. Region score:0.2; TSS score:0.3; Unmatched score:0.52; Average GERP:-0.5302871287128715 GeneName:AC008760.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000276980; TranscriptID:ENST00000614781; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:C3; CADD-Score:7; Consquence:missense; GeneID:ENSG00000125730; TranscriptID:ENST00000245907; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000583421; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000583423; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002506 22705344 NONHSAT060783.2 rs2230199 C N/A 819 european ancestry geographic atrophy cases//4,134 european ancestry controls EFO_0001365 N/A Associate Age-related macular degeneration (cnv) rs2230199-C of NONHSAT060783.2 is significantly associated with the age-related macular degeneration (cnv) by using GWAS analysis in 819 european ancestry geographic atrophy cases//4,134 european ancestry controls(p-value = 1E-12 ;OR = 1.61). 0.4 Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes. genome-wide association analysis NONHSAT060783.2 lncRNA Age-related macular degeneration 0.646 AACTTGTTGC(G > C,T)CCCCTTTTCT chr19: 6718376 0.9127,0.08726,. 0.86694062181447502,0.13305937818552497,. Region score:0.2; TSS score:0.3; Unmatched score:0.52; Average GERP:-0.5302871287128715 GeneName:AC008760.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000276980; TranscriptID:ENST00000614781; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:C3; CADD-Score:7; Consquence:missense; GeneID:ENSG00000125730; TranscriptID:ENST00000245907; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000583421; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000583423; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002506 20385826 NONHSAT060783.2 rs2230199 ? N/A 979 cases//1,709 controls; 868 european ancestry cases//410 european ancestry controls//4,921 cases//3,824 controls EFO_0001365 N/A Associate Age-related macular degeneration rs2230199-? of NONHSAT060783.2 is significantly associated with the age-related macular degeneration by using GWAS analysis in 979 cases//1,709 controls; 868 european ancestry cases//410 european ancestry controls//4,921 cases//3,824 controls(p-value = 2E-8 ;OR = ?). 0.4 Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC). genome-wide association analysis NONHSAT060783.2 lncRNA Age-related macular degeneration 0.646 AACTTGTTGC(G > C,T)CCCCTTTTCT chr19: 6718376 0.9127,0.08726,. 0.86694062181447502,0.13305937818552497,. Region score:0.2; TSS score:0.3; Unmatched score:0.52; Average GERP:-0.5302871287128715 GeneName:AC008760.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000276980; TranscriptID:ENST00000614781; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:C3; CADD-Score:7; Consquence:missense; GeneID:ENSG00000125730; TranscriptID:ENST00000245907; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000583421; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000583423; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002506 20861866 NONHSAT060783.2 rs2230199 C N/A 684 european ancestry cases//188 european ancestry controls; 1,896 european ancestry cases//1,866 european ancestry controls EFO_0001365 N/A Associate Age-related macular degeneration rs2230199-C of NONHSAT060783.2 is significantly associated with the age-related macular degeneration by using GWAS analysis in 684 european ancestry cases//188 european ancestry controls; 1,896 european ancestry cases//1,866 european ancestry controls(p-value = 1E-8 ;OR = 1.44). 0.4 Genome-wide association identifies SKIV2L and MYRIP as protective factors for age-related macular degeneration. genome-wide association analysis NONHSAT060783.2 lncRNA Age-related macular degeneration 0.646 AACTTGTTGC(G > C,T)CCCCTTTTCT chr19: 6718376 0.9127,0.08726,. 0.86694062181447502,0.13305937818552497,. Region score:0.2; TSS score:0.3; Unmatched score:0.52; Average GERP:-0.5302871287128715 GeneName:AC008760.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000276980; TranscriptID:ENST00000614781; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:C3; CADD-Score:7; Consquence:missense; GeneID:ENSG00000125730; TranscriptID:ENST00000245907; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000583421; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000583423; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002507 20881960 NONHSAT218002.1 rs1013209 T N/A 133,653 european ancestry individuals; 50,074 european ancestry individuals EFO_0004339 N/A Associate Height rs1013209-T of NONHSAT218002.1 is significantly associated with the height by using GWAS analysis in 133,653 european ancestry individuals; 50,074 european ancestry individuals(p-value = 2E-9 ;OR = 0.025). 0.4 Hundreds of variants clustered in genomic loci and biological pathways affect human height. genome-wide association analysis NONHSAT218002.1 lncRNA Body height 0.33 CTTTCATTAA(C > T)ATGGCTTTTA chr8: 24258791 0.7181,0.2819 0.72831453873598369,0.27168546126401630 Region score:0.36; TSS score:0.17; Unmatched score:0.07; Average GERP:-0.5209544554455444 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002508 28724990 NONHSAT200176.1 rs9991501 ? N/A 37,450 european ancestry individuals//842 old order amish individuals; 47,227 european ancestry individuals//380 african american individuals//8,034 korean ancestry individuals//7,834 indian ancestry individuals EFO_0004995 N/A Associate Lean body mass rs9991501-? of NONHSAT200176.1 is significantly associated with the lean body mass by using GWAS analysis in 37,450 european ancestry individuals//842 old order amish individuals; 47,227 european ancestry individuals//380 african american individuals//8,034 korean ancestry individuals//7,834 indian ancestry individuals(p-value = 6E-9 ;OR = 0.39). 0.4 Large meta-analysis of genome-wide association studies identifies five loci for lean body mass. genome-wide association analysis NONHSAT200176.1 lncRNA Lean body mass 0.33 ACTGATTTTT(C > T)GTTTTAAAAC chr4: 87337331 0.01158,0.9884 0.97770132517838939,0.02229867482161060 Region score:0.35; TSS score:0.29; Unmatched score:0.43; Average GERP:1.5597623762376238 GeneName:AC108516.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000255723; TranscriptID:ENST00000508163; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HSD17B11; CADD-Score:7; Consquence:missense; GeneID:ENSG00000198189; TranscriptID:ENST00000358290; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002509 28232668 NONHSAT150442.1 rs2064163 C N/A 2,033 han chinese ancestry cases//4,051 han chinese ancestry controls; 1,346 han chinese ancestry cases//4,542 han chinese ancestry controls EFO_0003959 N/A Associate Nonsyndromic cleft lip with cleft palate rs2064163-C of NONHSAT150442.1 is significantly associated with the nonsyndromic cleft lip with cleft palate by using GWAS analysis in 2,033 han chinese ancestry cases//4,051 han chinese ancestry controls; 1,346 han chinese ancestry cases//4,542 han chinese ancestry controls(p-value = 9E-19 ;OR = 1.2987013). 0.4 Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity. genome-wide association analysis NONHSAT150442.1 lncRNA Cleft lip 0.33 GTAATGCTTT(G > T)AAATTCATTT chr1: 209875474 0.6292,0.3708 0.68562850407747196,0.31437149592252803 Region score:0.27; TSS score:0.32; Unmatched score:0.19; Average GERP:0.31264851485148526 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000385226; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000385227; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002510 26192919 NONHSAT210327.1 rs71559680 G N/A 12,882 european ancestry cases//21,770 european ancestry controls; 25,273 european ancestry cases//26,715 european ancestry controls//548 iranian ancestry cases//342 iranian ancestry control//1,423 indian ancestry cases//990 indian ancestry controls//2,824 east asian ancestry cases//3,719 east asian ancestry controls EFO_0003767 N/A Associate Inflammatory bowel disease rs71559680-G of NONHSAT210327.1 is significantly associated with the inflammatory bowel disease by using GWAS analysis in 12,882 european ancestry cases//21,770 european ancestry controls; 25,273 european ancestry cases//26,715 european ancestry controls//548 iranian ancestry cases//342 iranian ancestry control//1,423 indian ancestry cases//990 indian ancestry controls//2,824 east asian ancestry cases//3,719 east asian ancestry controls(p-value = 2E-10 ;OR = 1.0647465). 0.4 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. genome-wide association analysis NONHSAT210327.1 lncRNA Inflammatory bowel disease 0.451 GACAGCATAA(CTAG > CCAT)TAGTATATAA chr6: 21430496 N/A RS=71559680;RSPOS=21430497;dbSNPBuildID=130;SSR=0;SAO=0;VP=0x050128000005000102020800;WGT=1;VC=MNV;PM;PMC;SLO;ASP;GNO;MTP N/A N/A NCRV0000002510 28067908 NONHSAT210327.1 rs71559680 ? N/A 25,042 european and unknown ancestry cases//34,915 european and unknown ancestry controls EFO_0003767 N/A Associate Inflammatory bowel disease rs71559680-? of NONHSAT210327.1 is significantly associated with the inflammatory bowel disease by using GWAS analysis in 25,042 european and unknown ancestry cases//34,915 european and unknown ancestry controls(p-value = 5E-7 ;OR = ?). 0.4 Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease. genome-wide association analysis NONHSAT210327.1 lncRNA Inflammatory bowel disease 0.451 GACAGCATAA(CTAG > CCAT)TAGTATATAA chr6: 21430496 N/A RS=71559680;RSPOS=21430497;dbSNPBuildID=130;SSR=0;SAO=0;VP=0x050128000005000102020800;WGT=1;VC=MNV;PM;PMC;SLO;ASP;GNO;MTP N/A N/A NCRV0000002511 23527680 NONHSAT203189.1 rs1515641 A N/A 1,851 individuals; 155 individuals EFO_0003888 N/A Associate Attention deficit hyperactivity disorder (hyperactivity-impulsivity symptoms) rs1515641-A of NONHSAT203189.1 is significantly associated with the attention deficit hyperactivity disorder (hyperactivity-impulsivity symptoms) by using GWAS analysis in 1,851 individuals; 155 individuals(p-value = 4E-6 ;OR = ?). 0.4 Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits. genome-wide association analysis NONHSAT203189.1 lncRNA Attention deficit hyperactivity disorder 0.33 CAAATGAATC(G > A)TACAGCATGC chr5: 127803924 0.8862,0.1138 0.93238723241590214,0.06761276758409785 Region score:0.58; TSS score:0.43; Unmatched score:0.19; Average GERP:-0.6134881188118816 GeneName:CCDC192; CADD-Score:2; Consquence:intron; GeneID:ENSG00000230561; TranscriptID:ENST00000514853; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002512 22542470 NONHSAT015744.2 rs2860975 ? N/A 217 african american individuals//580 european ancestry individuals//217 hispanic individuals EFO_0004645 N/A Associate Immune response to smallpox vaccine (il-6) rs2860975-? of NONHSAT015744.2 is significantly associated with the immune response to smallpox vaccine (il-6) by using GWAS analysis in 217 african american individuals//580 european ancestry individuals//217 hispanic individuals(p-value = 2E-7 ;OR = ?). 0.4 Genome-wide association study of antibody response to smallpox vaccine. genome-wide association analysis NONHSAT015744.2 lncRNA Response to vaccine 0.33 AGAGCCAGAT(A > C)TCCTTACATC chr10: 95007177 0.3882,0.6118 0.36312595565749235,0.63687404434250764 Region score:0.44; TSS score:0.25; Unmatched score:0.71; Average GERP:0.5824554455445543 GeneName:CYP2C59P; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000228460; TranscriptID:ENST00000457790; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CYP2C60P; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000260863; TranscriptID:ENST00000566088; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002513 26908601 NONHSAT196718.1 rs710446 ? N/A 6,135 european ancestry cases//252,827 european ancestry controls HP_0002140 N/A Associate Thrombosis rs710446-? of NONHSAT196718.1 is significantly associated with the thrombosis by using GWAS analysis in 6,135 european ancestry cases//252,827 european ancestry controls(p-value = 2E-6 ;OR = 0.089). 0.4 Genome-wide association analysis of self-reported events in 6135 individuals and 252 827 controls identifies 8 loci associated with thrombosis. genome-wide association analysis NONHSAT196718.1 lncRNA Ischemic stroke 0.33 CCAGCTCCCA(T > C)ACAGAGTGAT chr3: 186742138 0.5847,0.4153 0.56200624362895005,0.43799375637104994 Region score:0.28; TSS score:0.33; Unmatched score:0.46; Average GERP:1.466730693069307 GeneName:AC068631.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000197099; TranscriptID:ENST00000627551; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:KNG1; CADD-Score:7; Consquence:missense; GeneID:ENSG00000113889; TranscriptID:ENST00000644859; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002514 27989323 NONHSAT131072.2 rs76582507 G N/A 8,243 finnish ancestry individuals EFO_0005140 N/A Associate Macrophage inflammatory protein 1b levels rs76582507-G of NONHSAT131072.2 is significantly associated with the macrophage inflammatory protein 1b levels by using GWAS analysis in 8,243 finnish ancestry individuals(p-value = 3E-6 ;OR = 0.3175). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. genome-wide association analysis NONHSAT131072.2 lncRNA Autoimmune disease 0.33 AGTGGCTCAT(G > A)TTTGTAATCC chr9: 37510075 0.992,0.007987 0.98861174821610601,0.01138825178389398 Region score:0.33; TSS score:0.08; Unmatched score:0.23; Average GERP:0.16189108910891092 GeneName:AL513165.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000234160; TranscriptID:ENST00000413915; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AL513165.2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000256966; TranscriptID:ENST00000544475; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:FBXO10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000147912; TranscriptID:ENST00000432825; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002515 26625766 miR-149 rs2292832 T Dominant 100 oral squamous cell carcinoma patients and 102 healthy controls in South Indian Population EFO_0000199 N/A increasing risk oral squamous cell carcinoma rs2292832-T of hsa-mir-149 and its dysfunction is significantly associated with the increasing risk of Oral squamous cell carcinoma by using case-control analysis in 100 oral squamous cell carcinoma patients and 102 healthy controls in South Indian Population 0.4 Genetic Variation in MicroRNAs and Risk of Oral Squamous Cell Carcinoma in South Indian Population. case-control analysis hsa-mir-149 miRNA Oral squamous cell carcinoma 0.33 CTGGGGCAGC(T > A,C)GGAACAACGC chr2: 240456086 0.3866,.,0.6134 0.31987449031600407,0.00025484199796126,0.67987066768603465 Region score:0.3; TSS score:0.39; Unmatched score:0.89; Average GERP:1.5002722772277222 GeneName:AC110619.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000218416; TranscriptID:ENST00000404891; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GPC1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000063660; TranscriptID:ENST00000264039; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR149; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207611; TranscriptID:ENST00000384879; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000133146; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002516 23534349 NONHSAT080219.2 rs237450 A N/A 455 african american individuals EFO_0004278 N/A Associate Qt interval rs237450-A of NONHSAT080219.2 is significantly associated with the qt interval by using GWAS analysis in 455 african american individuals(p-value = 5E-6 ;OR = 6.86). 0.4 Generalization of variants identified by genome-wide association studies for electrocardiographic traits in African Americans. genome-wide association analysis NONHSAT080219.2 lncRNA Sudden cardiac arrest 0.33 GGATGATTTG(G > A)GATGGAGGCC chr20: 49365591 0.8484,0.1516 0.83186799184505606,0.16813200815494393 Region score:0.45; TSS score:0.39; Unmatched score:0.43; Average GERP:-1.289854455445545 GeneName:AL035685.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000283529; TranscriptID:ENST00000637341; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:KCNB1; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000158445; TranscriptID:ENST00000371741; AnnoType:3PRIME_UTR; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002517 26053186 NONHSAT143019.2 rs3743714 ? N/A 362 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//438 european ancestry current smoker individuals//449 latino current smoker individuals//704 japanese ancestry current smoker individuals EFO_0001071 in smokers Associate 3-hydroxypropylmercapturic acid levels in smokers rs3743714-? of NONHSAT143019.2 is significantly associated with the 3-hydroxypropylmercapturic acid levels in smokers by using GWAS analysis in 362 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//438 european ancestry current smoker individuals//449 latino current smoker individuals//704 japanese ancestry current smoker individuals(p-value = 7E-6 ;OR = 0.4757). 0.4 Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer. genome-wide association analysis NONHSAT143019.2 lncRNA Lung cancer 0.33 GCCGCCCCCG(T > A,C,G)CCCAGCCGCA chr16: 66549802 0.8409,.,0.1591,. 0.88098878695208970,0.00003981906218144,0.11896343017329255,0.00000796381243628 Region score:0.49; TSS score:0.41; Unmatched score:0.93; Average GERP:-1.0240029702970295 GeneName:AC010542.4; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000261519; TranscriptID:ENST00000563151; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CKLF; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000217555; TranscriptID:ENST00000264001; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CKLF-CMTM1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000254788; TranscriptID:ENST00000616804; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000086979; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000540112; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF00019; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000275745; TranscriptID:ENST00000411222; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TK2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000166548; TranscriptID:ENST00000299697; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002518 26830138 NONHSAT039566.2 rs150511909 T N/A 2,478 european ancestry cases//979 ancestry controls both from the same 1,070 families EFO_0000249 N/A Associate Alzheimer disease and age of onset rs150511909-T of NONHSAT039566.2 is significantly associated with the alzheimer disease and age of onset by using GWAS analysis in 2,478 european ancestry cases//979 ancestry controls both from the same 1,070 families(p-value = 4E-9 ;OR = 5.892). 0.4 Family-based association analyses of imputed genotypes reveal genome-wide significant association of Alzheimer's disease with OSBPL6, PTPRG, and PDCL3. genome-wide association analysis NONHSAT039566.2 lncRNA Alzheimers disease 0.33 GTTTAATCTT(T > C)ATCTTCTCCT chr14: 97442349 0.9972,0.002796 0.99572343272171253,0.00427656727828746 Region score:0.33; TSS score:0.34; Unmatched score:0.17; Average GERP:-1.3816564356435643 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000506839; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002519 24324551 NONHSAT041709.2 rs10468092 ? N/A 207 brazilian ancestry cases//306 brazilian ancestry controls EFO_0005529 in Tripanosoma cruzi seropositivity Associate Chagas cardiomyopathy in tripanosoma cruzi seropositivity rs10468092-? of NONHSAT041709.2 is significantly associated with the chagas cardiomyopathy in tripanosoma cruzi seropositivity by using GWAS analysis in 207 brazilian ancestry cases//306 brazilian ancestry controls(p-value = 4E-6 ;OR = ?). 0.4 Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects. genome-wide association analysis NONHSAT041709.2 lncRNA Chagas cardiomyopathy 0.33 CGCACGGTGC(A > G,T)CTGCACCCAC chr15: 38142690 0.04872,0.9513,. 0.04295680428134556,0.94268444189602446,0.01435875382262996 Region score:0.28; TSS score:0.15; Unmatched score:0.18; Average GERP:0 GeneName:AC087473.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000259380; TranscriptID:ENST00000561320; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002520 28139693 NONHSAT210479.1 rs6920449 T N/A 28,503 european ancestry individuals; 2,716 latino individuals//2,518 east asian ancestry individuals//1,585 african american individuals//6,193 european ancestry individuals (later diagnosed with prostate cancer)//5,603 european ancestry individuals EFO_0001663 N/A Associate Prostate-specific antigen levels rs6920449-T of NONHSAT210479.1 is significantly associated with the prostate-specific antigen levels by using GWAS analysis in 28,503 european ancestry individuals; 2,716 latino individuals//2,518 east asian ancestry individuals//1,585 african american individuals//6,193 european ancestry individuals (later diagnosed with prostate cancer)//5,603 european ancestry individuals(p-value = 6E-12 ;OR = 0.0529541). 0.4 Genome-wide association study of prostate-specific antigen levels identifies novel loci independent of prostate cancer. genome-wide association analysis NONHSAT210479.1 lncRNA Prostate cancer 0.33 GCAGCTCCTC(T > C)GCTTCTCTCA chr6: 43742611 0.1729,0.8271 0.14021088175331294,0.85978911824668705 Region score:0.34; TSS score:0.42; Unmatched score:0.28; Average GERP:-0.14694059405940582 GeneName:AL136131.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000236961; TranscriptID:ENST00000424283; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002521 27713147 miR-143 rs41291957 ? N/a 1358 0-iii stage resected crc patients and 1079 healthy controls EFO_0005842 N/A No significance for risk Colorectal cancer rs41291957-? of miR-143 and its dysfunction is not significantly associated with colorectal cancer by using case-control analysis in 1358 0-III stage resected CRC patients and 1079 healthy controls. -0.4 MiR-608, pre-miR-124-1 and pre-miR26a-1 polymorphisms modify susceptibility and recurrence-free survival in surgically resected CRC individuals. case-control analysis hsa-mir-143 miRNA Colorectal cancer -0.33 CAGCCTCCCG(G > A)CCAGAGCTGG chr5: 149428827 0.8786,0.1214 0.88401503567787971,0.11598496432212028 Region score:0.35; TSS score:0.32; Unmatched score:0.48; Average GERP:-1.2492930693069306 GeneName:AC131025.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000275871; TranscriptID:ENST00000622374; AnnoType:UPSTREAM; mirSVR-Score:-0.0008; mirSVR-E:-20.64 | GeneName:CARMN; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000249669; TranscriptID:ENST00000602964; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0008; mirSVR-E:-20.64 | GeneName:MIR143; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284182; TranscriptID:ENST00000385300; AnnoType:UPSTREAM; mirSVR-Score:-0.0008; mirSVR-E:-20.64 | GeneName:MIR145; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000276365; TranscriptID:ENST00000384967; AnnoType:UPSTREAM; mirSVR-Score:-0.0008; mirSVR-E:-20.64 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000773442; AnnoType:REGULATORY; mirSVR-Score:-0.0008; mirSVR-E:-20.64 | NCRV0000002522 23266556 NONHSAT183327.1 rs11903757 C N/A 12,696 european ancestry colorectal tumor cases//15,113 european ancestry controls; 958 european ancestry colorectal tumor cases//909 european ancestry controls//up to 2,098 east asian ancestry colorectal tumor cases//up to 5,749 east asian ancestry controls EFO_0005842 N/A Associate Colorectal cancer rs11903757-C of NONHSAT183327.1 is significantly associated with the colorectal cancer by using GWAS analysis in 12,696 european ancestry colorectal tumor cases//15,113 european ancestry controls; 958 european ancestry colorectal tumor cases//909 european ancestry controls//up to 2,098 east asian ancestry colorectal tumor cases//up to 5,749 east asian ancestry controls(p-value = 4E-8 ;OR = 1.16). 0.4 Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis. genome-wide association analysis NONHSAT183327.1 lncRNA Colorectal cancer 0.33 CACCCCCTAC(T > C)GCAAACACCA chr2: 191722478 0.8754,0.1246 0.85579924821610601,0.14420075178389398 Region score:0.33; TSS score:0.11; Unmatched score:0.03; Average GERP:0.10869306930693078 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002523 27863252 NONHSAT143188.2 rs28647874 G N/A 172,952 european ancestry individuals EFO_0004305 N/A Associate Red blood cell count rs28647874-G of NONHSAT143188.2 is significantly associated with the red blood cell count by using GWAS analysis in 172,952 european ancestry individuals(p-value = 1E-15 ;OR = 0.05511777). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT143188.2 lncRNA Erythrocyte count 0.33 AGCAGCAGCA(A > G)CAGCAGCAGC chr16: 67842920 0.7999,0.2001 0.99634461009174311,0.00365538990825688 Region score:0.31; TSS score:0.3; Unmatched score:0.74; Average GERP:1.618132653061225 GeneName:CENPT; CADD-Score:2; Consquence:intron; GeneID:ENSG00000102901; TranscriptID:ENST00000562787; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000087183; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000540507; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NUTF2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000102898; TranscriptID:ENST00000219169; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:THAP11; CADD-Score:5; Consquence:synonymous; GeneID:ENSG00000168286; TranscriptID:ENST00000303596; AnnoType:SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002524 22036096 NONHSAT007847.2 rs1325195 A N/A 2,315 european ancestry cases//10,032 european ancestry controls EFO_0003956 N/A Associate Ige grass sensitization rs1325195-A of NONHSAT007847.2 is significantly associated with the ige grass sensitization by using GWAS analysis in 2,315 european ancestry cases//10,032 european ancestry controls(p-value = 5E-6 ;OR = 1.17). 0.4 A genome-wide meta-analysis of genetic variants associated with allergic rhinitis and grass sensitization and their interaction with birth order. genome-wide association analysis NONHSAT007847.2 lncRNA Seasonal allergic rhinitis 0.33 GCAAGATGAT(G > A)AAACTCAAAA chr1: 179102621 0.3944,0.6056 0.39029848369011213,0.60970151630988786 Region score:0.49; TSS score:0.58; Unmatched score:0.73; Average GERP:0.04121782178217824 GeneName:ABL2; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000143322; TranscriptID:ENST00000502732; AnnoType:3PRIME_UTR; mirSVR-Score:-0.0264; mirSVR-E:-17.28 | GeneName:TOR3A; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000186283; TranscriptID:ENST00000352445; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0264; mirSVR-E:-17.28 | NCRV0000002525 19581569 NONHSAT204489.1 rs13160562 G N/A 476 european ancestry cases//1,358 european ancestry controls; 1,024 european ancestry cases//996 european ancestry controls EFO_0003829 N/A Associate Alcohol dependence rs13160562-G of NONHSAT204489.1 is significantly associated with the alcohol dependence by using GWAS analysis in 476 european ancestry cases//1,358 european ancestry controls; 1,024 european ancestry cases//996 european ancestry controls(p-value = 7E-6 ;OR = 1.27). 0.4 Genome-wide association study of alcohol dependence. genome-wide association analysis NONHSAT204489.1 lncRNA Alcohol dependence 0.33 ATCCTGAAGG(G > A)ATGAGGAGGG chr5: 96775667 0.8468,0.1532 0.78295425586136595,0.21704574413863404 Region score:0.28; TSS score:0.5; Unmatched score:0.62; Average GERP:-0.4925128712871286 GeneName:CAST; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000153113; TranscriptID:ENST00000395812; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0947; mirSVR-E:-16.20 | GeneName:ERAP1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000164307; TranscriptID:ENST00000296754; AnnoType:INTRONIC; mirSVR-Score:-0.0947; mirSVR-E:-16.20 | NCRV0000002526 25673412 NONHSAT168677.1 rs7144011 T N/A up to 56,910 european ancestry men//up to 86,570 european ancestry women; up to 36,570 european ancestry men//30,172 european ancestry women//915 filipino ancestry men//735 filipino ancestry women//2,351 african american/afro-caribbean ancestry men//6,258 african american/afro-caribbean ancestry women//2,285 south asian ancestry men//506 south asian ancestry women//195 seychellois ancestry men//266 seychellois ancestry women EFO_0004342 N/A Associate Waist circumference rs7144011-T of NONHSAT168677.1 is significantly associated with the waist circumference by using GWAS analysis in up to 56,910 european ancestry men//up to 86,570 european ancestry women; up to 36,570 european ancestry men//30,172 european ancestry women//915 filipino ancestry men//735 filipino ancestry women//2,351 african american/afro-caribbean ancestry men//6,258 african american/afro-caribbean ancestry women//2,285 south asian ancestry men//506 south asian ancestry women//195 seychellois ancestry men//266 seychellois ancestry women(p-value = 2E-7 ;OR = 0.0277). 0.4 New genetic loci link adipose and insulin biology to body fat distribution. genome-wide association analysis NONHSAT168677.1 lncRNA Waist circumference 0.33 TGTTTACTTT(G > T)ATTCCACACA chr14: 79474040 0.8504,0.1496 0.79851554536187563,0.20148445463812436 Region score:0.24; TSS score:0.18; Unmatched score:0.02; Average GERP:-0.5618712871287128 GeneName:NRXN3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000021645; TranscriptID:ENST00000635466; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002527 23568457 NONHSAT048141.2 rs8024343 A N/A 151 european ancestry female cases//2,291 european ancestry female controls EFO_0005204 N/A Associate Bulimia nervosa rs8024343-A of NONHSAT048141.2 is significantly associated with the bulimia nervosa by using GWAS analysis in 151 european ancestry female cases//2,291 european ancestry female controls(p-value = 6E-6 ;OR = 0.045). 0.4 Genetic variants associated with disordered eating. genome-wide association analysis NONHSAT048141.2 lncRNA Bulimia nervosa 0.33 AGCTGAGTCT(A > T)TAGGTGTGGA chr15: 87166835 0.8588,0.1412 0.85759906982670744,0.14240093017329255 Region score:0.27; TSS score:0.23; Unmatched score:0.06; Average GERP:-0.518282178217822 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002528 28604730 NONHSAT210411.1 rs114984535 T N/A 29,266 european ancestry cases//56,450 european ancestry controls EFO_0001071 N/A Associate Lung cancer rs114984535-T of NONHSAT210411.1 is significantly associated with the lung cancer by using GWAS analysis in 29,266 european ancestry cases//56,450 european ancestry controls(p-value = 2E-6 ;OR = 1.2639532). 0.4 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. genome-wide association analysis NONHSAT210411.1 lncRNA Lung cancer 0.33 GAAGAGACCC(T > C)GGGTCTTAGA chr6: 33360927 0.9842,0.01577 0.98277427370030581,0.01722572629969418 Region score:0.4; TSS score:0.27; Unmatched score:0.16; Average GERP:0.0033650495049504852 GeneName:LYPLA2P1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000228285; TranscriptID:ENST00000447689; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002529 20548946 NONHSAT022122.2 rs17146964 G N/A 7,360 european ancestry individuals; 4,455 european ancestry individuals EFO_0004832 N/A Associate Vertical cup-disc ratio rs17146964-G of NONHSAT022122.2 is significantly associated with the vertical cup-disc ratio by using GWAS analysis in 7,360 european ancestry individuals; 4,455 european ancestry individuals(p-value = 4E-9 ;OR = 0.01). 0.4 A genome-wide association study of optic disc parameters. genome-wide association analysis NONHSAT022122.2 lncRNA Optic disc size measurement 0.33 TATCTAAGGA(A > G)TTTCTCATAC chr11: 65481674 0.8409,0.1591 0.80790488022426095,0.19209511977573904 Region score:0.45; TSS score:0.36; Unmatched score:0.42; Average GERP:-0.6766816831683168 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000432704; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002530 20834067 NONHSAT214016.1 rs4732038 ? N/A 1,173 individuals EFO_0004300 N/A Associate Longevity rs4732038-? of NONHSAT214016.1 is significantly associated with the longevity by using GWAS analysis in 1,173 individuals(p-value = 1E-6 ;OR = ?). 0.4 Joint influence of small-effect genetic variants on human longevity. genome-wide association analysis NONHSAT214016.1 lncRNA Longevity 0.33 TCTTTGCACA(A > C)CTTTCTTCTC chr7: 134565570 0.4964,0.5036 0.47633154943934760,0.52366845056065239 Region score:0.23; TSS score:0.39; Unmatched score:0.73; Average GERP:-0.3322663366336634 GeneName:AKR1B15; CADD-Score:2; Consquence:intron; GeneID:ENSG00000227471; TranscriptID:ENST00000457545; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000840394; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002531 23111177 CDKN2B-AS1 rs1412832 ? Dominant 976 poag cases from the glaucoma genes and environment (glaugen) study and 1971 cases from the national eye institute glaucoma human genetics collaboration (neighbor) consortium EFO_0004190 N/A Decreasing risk Primary open-angle glaucoma rs1412832-? of CDKN2B-AS1 and its dysfunction is significantly associated with the decreasing risk of primary open-angle glaucoma by using case-control analysis in 976 POAG cases from the Glaucoma Genes and Environment (GLAUGEN) study and 1971 cases from the National Eye Institute Glaucoma Human Genetics Collaboration (NEIGHBOR) consortium. 0.4 CDKN2B-AS1 genotype-glaucoma feature correlations in primary open-angle glaucoma patients from the United States. case-control analysis CDKN2B-AS1 lncRNA Open-angle glaucoma 0.33 AAAATTTCAG(C > T)TCTTTGGTTC chr9: 22077544 0.1895,0.8105 0.20937659276248725,0.79062340723751274 Region score:0.27; TSS score:0.06; Unmatched score:0.11; Average GERP:0.006931386138613887 GeneName:CDKN2B-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000240498; TranscriptID:ENST00000428597; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002532 23251661 NONHSAT148514.1 rs17360053 G N/A 815 hispanic children from 263 families EFO_0004736 N/A Associate Obesity-related traits rs17360053-G of NONHSAT148514.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 9E-6 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. genome-wide association analysis NONHSAT148514.1 lncRNA Aspartate aminotransferase measurement 0.33 ATTGACCGAC(T > C)GACCTCTAGA chr1: 22173037 0.7572,0.2428 0.71774655963302752,0.28225344036697247 Region score:0.3; TSS score:0.43; Unmatched score:0.12; Average GERP:-0.14736500000000005 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002533 23319000 NONHSAT153547.1 rs4949316 G N/A up to 398 european ancestry individuals EFO_0005132 N/A Associate Metabolite levels (5-hiaa) rs4949316-G of NONHSAT153547.1 is significantly associated with the metabolite levels (5-hiaa) by using GWAS analysis in up to 398 european ancestry individuals(p-value = 9E-6 ;OR = 0.2127). 0.4 Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid. genome-wide association analysis NONHSAT153547.1 lncRNA 5-hiaa measurement 0.33 ACTGCTGTGA(G > C,T)AGGCCGGAAG chr1: 30842746 0.4237,0.5763,. 0.39146120030581039,0.60851490825688073,0.00002389143730886 Region score:0.38; TSS score:0.45; Unmatched score:0.54; Average GERP:0.2748772574257426 GeneName:RN7SKP91; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000222784; TranscriptID:ENST00000410852; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002534 28073927 NONHSAT022168.2 rs1346 T N/A 21,768 european ancestry individuals//2,131 erasmus rucphen (founder/genetic isolate) individuals; 8,168 asian ancestry individuals EFO_0006939 N/A Associate Vertical cup-disc ratio rs1346-T of NONHSAT022168.2 is significantly associated with the vertical cup-disc ratio by using GWAS analysis in 21,768 european ancestry individuals//2,131 erasmus rucphen (founder/genetic isolate) individuals; 8,168 asian ancestry individuals(p-value = 3E-17 ;OR = 0.014). 0.4 New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics. genome-wide association analysis NONHSAT022168.2 lncRNA Cup-to-disc ratio measurement 0.33 GGGCGGCTGG(A > C,T)AGCGCAATGC chr11: 65569780 0.8672,.,0.1328 0.83741080530071355,.,0.16258919469928644 Region score:0.34; TSS score:0.54; Unmatched score:0.93; Average GERP:-0.6492153960396039 GeneName:FAM89B; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000176973; TranscriptID:ENST00000530349; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000264463; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000432731; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SSSCA1-AS1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000260233; TranscriptID:ENST00000623234; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SSSCA1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000173465; TranscriptID:ENST00000309328; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002535 17554261 NONHSAT015920.2 rs10883365 ? N/A 1,748 cases//2,938 controls; 1,182 european ancestry cases//2,024 european ancestry controls EFO_0000384 N/A Associate Crohn's disease rs10883365-? of NONHSAT015920.2 is significantly associated with the crohn's disease by using GWAS analysis in 1,748 cases//2,938 controls; 1,182 european ancestry cases//2,024 european ancestry controls(p-value = 4E-10 ;OR = 1.18). 0.4 Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility. genome-wide association analysis NONHSAT015920.2 lncRNA Crohn's disease 0.451 GTTTGAAGGT(G > A)TTTGTGCCAA chr10: 99528007 0.4471,0.5529 0.47692883537206931,0.52307116462793068 Region score:0.39; TSS score:0.52; Unmatched score:0.78; Average GERP:-0.5622646534653466 GeneName:AL513542.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000228778; TranscriptID:ENST00000452494; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LINC01475; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000257582; TranscriptID:ENST00000548010; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000413529; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NKX2-3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000119919; TranscriptID:ENST00000344586; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002535 17554300 NONHSAT015920.2 rs10883365 G N/A 1,748 european ancestry cases//2,938 european ancestry controls; (see parkes 2007) EFO_0000384 N/A Associate Crohn's disease rs10883365-G of NONHSAT015920.2 is significantly associated with the crohn's disease by using GWAS analysis in 1,748 european ancestry cases//2,938 european ancestry controls; (see parkes 2007)(p-value = 6E-8 ;OR = 1.2). 0.4 Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. genome-wide association analysis NONHSAT015920.2 lncRNA Crohn's disease 0.451 GTTTGAAGGT(G > A)TTTGTGCCAA chr10: 99528007 0.4471,0.5529 0.47692883537206931,0.52307116462793068 Region score:0.39; TSS score:0.52; Unmatched score:0.78; Average GERP:-0.5622646534653466 GeneName:AL513542.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000228778; TranscriptID:ENST00000452494; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LINC01475; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000257582; TranscriptID:ENST00000548010; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000413529; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NKX2-3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000119919; TranscriptID:ENST00000344586; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002536 29213071 NONHSAT121312.2 rs73700722 A N/A 15,997 hispanic/latino individuals EFO_0004278 N/A Associate Qt interval rs73700722-A of NONHSAT121312.2 is significantly associated with the qt interval by using GWAS analysis in 15,997 hispanic/latino individuals(p-value = 1E-7 ;OR = 7.08). 0.4 GWAS of the electrocardiographic QT interval in Hispanics/Latinos generalizes previously identified loci and identifies population-specific signals. genome-wide association analysis NONHSAT121312.2 lncRNA Sudden cardiac arrest 0.33 GTTGAAAATA(A > G)TCGGCAATTC chr7: 69333615 0.9808,0.01917 0.98177083333333333,0.01822916666666666 Region score:0.46; TSS score:0.07; Unmatched score:0.31; Average GERP:0.07555445544554448 GeneName:AC092100.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000225718; TranscriptID:ENST00000435148; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MTCO1P25; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000229031; TranscriptID:ENST00000414449; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MTCO2P25; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000230654; TranscriptID:ENST00000447065; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002537 19789318 miR-562 hsa-mir-562 Deletion - Dominant 226 sporadic wilms' tumor samples MONDO_0019004 N/A Increasing risk Kidney wilms tumor Deletion of miR-562 and its dysfunction is significantly associated with the increasing risk of kidney Wilms tumor by using analysis of sequence variation in 226 sporadic Wilms' tumor samples. By using the disease cell lines or tissues, the interference of miR-562 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 Loss of heterozygosity at 2q37 in sporadic Wilms' tumor: putative role for miR-562. analysis of sequence variation; Function hsa-mir-562 miRNA Kidney wilms tumor 0.593 N/A N/A N/A N/A N/A N/A NCRV0000002538 29049738 miR-612 rs12803915 G N/A IOP (n = 37,930 individuals), VCDR (n = 23,899 individuals), cup area (n = 22,489 individuals), and disc area (n = 22,504 individuals) EFO_0004190 N/A increasing risk open-angle glaucoma rs12803915-G of hsa-mir-612 and its dysfunction is significantly associated with the increasing risk of Open-angle glaucoma by using case-control analysis in IOP (n = 37,930 individuals), VCDR (n = 23,899 individuals), cup area (n = 22,489 individuals), and disc area (n = 22,504 individuals) 0.9 A Genome-Wide Scan for MicroRNA-Related Genetic Variants Associated With Primary Open-Angle Glaucoma. case-control analysis hsa-mir-612 miRNA Open-angle glaucoma 0.593 AGCACTAGCA(G > A)GAGGGGCTCC chr11: 65444508 0.8618,0.1382 0.82363340978593272,0.17636659021406727 Region score:0.28; TSS score:0.44; Unmatched score:0.76; Average GERP:-0.47209009900990107 GeneName:MIR612; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000283791; TranscriptID:ENST00000384994; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NEAT1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000245532; TranscriptID:ENST00000501122; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01684; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000275948; TranscriptID:ENST00000616984; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002539 28957384 NONHSAT007826.2 rs187271145 A N/A 1,421 european ancestry cases//154 hispanic/latino cases//121 east asian ancestry cases//81,843 european ancestry controls//8,406 hispanic/latino controls//7,397 east asian ancestry controls EFO_1002021 N/A Associate Ankle injury rs187271145-A of NONHSAT007826.2 is significantly associated with the ankle injury by using GWAS analysis in 1,421 european ancestry cases//154 hispanic/latino cases//121 east asian ancestry cases//81,843 european ancestry controls//8,406 hispanic/latino controls//7,397 east asian ancestry controls(p-value = 6E-6 ;OR = 1.6407). 0.4 Two genetic loci associated with ankle injury. genome-wide association analysis NONHSAT007826.2 lncRNA Ankle injury 0.33 AGCCCCCAGC(G > A)TCAGAGTCTC chr1: 178599007 0.9848,0.01518 0.97496973751274209,0.02503026248725790 Region score:0.31; TSS score:0.19; Unmatched score:0.13; Average GERP:-0.797252475247525 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002540 26634245 NONHSAT159598.1 rs737693 A N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs737693-A of NONHSAT159598.1 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 9E-7 ;OR = 0.073). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT159598.1 lncRNA Pulmonary function measurement 0.33 GTATCATCAG(A > T)ATTTCTCCAG chr11: 102855411 0.9407,0.05931 0.91852223496432212,0.08147776503567787 Region score:0.3; TSS score:0.22; Unmatched score:0.08; Average GERP:0.12133663366336638 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002541 28282560 NONHSAT004565.2 rs188301220 C N/A 7,189 european ancestry individuals EFO_0006501 N/A Associate Carotid plaque burden rs188301220-C of NONHSAT004565.2 is significantly associated with the carotid plaque burden by using GWAS analysis in 7,189 european ancestry individuals(p-value = 5E-6 ;OR = 0.5140511). 0.4 Genome-wide meta-analysis identifies novel loci of plaque burden in carotid artery. genome-wide association analysis NONHSAT004565.2 lncRNA Carotid plaque build 0.33 ATGCATGATA(T > C)GGGGGTGGGC chr1: 93927754 0.9934,0.006589 0.98889844546381243,0.01110155453618756 Region score:0.55; TSS score:0.16; Unmatched score:0.67; Average GERP:0.18003960396039598 GeneName:AL117351.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000250890; TranscriptID:ENST00000513571; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MTATP6P13; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000229842; TranscriptID:ENST00000438531; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MTCO1P21; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000226960; TranscriptID:ENST00000416634; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MTCO2P21; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000236689; TranscriptID:ENST00000419780; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MTCO3P21; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000232752; TranscriptID:ENST00000430791; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MTND3P21; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000235794; TranscriptID:ENST00000433774; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MTND4P11; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000234099; TranscriptID:ENST00000417020; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002542 26545403 NONHSAT205157.1 rs2853668 ? N/A 2,152 chinese ancestry cases//3,740 chinese ancestry controls; 4,716 chinese ancestry cases//5,379 chinese ancestry controls EFO_0004252 N/A Associate Nasopharyngeal carcinoma rs2853668-? of NONHSAT205157.1 is significantly associated with the nasopharyngeal carcinoma by using GWAS analysis in 2,152 chinese ancestry cases//3,740 chinese ancestry controls; 4,716 chinese ancestry cases//5,379 chinese ancestry controls(p-value = 4E-6 ;OR = 1.12). 0.4 A GWAS Meta-analysis and Replication Study Identifies a Novel Locus within CLPTM1L/TERT Associated with Nasopharyngeal Carcinoma in Individuals of Chinese Ancestry. genome-wide association analysis NONHSAT205157.1 lncRNA Nasopharyngeal neoplasm 0.33 TGTACTGAGT(G > T)TTGTCATGGC chr5: 1299910 0.6362,0.3638 0.66450050968399592,0.33549949031600407 Region score:0.21; TSS score:0.51; Unmatched score:0.3; Average GERP:-0.5476257425742572 GeneName:TERT; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000164362; TranscriptID:ENST00000310581; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002543 17900631 miR-106b rs2307353 T Dominant 96 hcc tissues EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs2307353-T of miR-106b and its dysfunction is not significantly associated with hepatocellular carcinoma by using analysis of sequence variation in 96 HCC tissues. -0.4 Analysis of sequence variations in 59 microRNAs in hepatocellular carcinomas. analysis of sequence variation hsa-mir-106b miRNA Hepatocellular cancer -0.33 GAGAGCACGG(T > C)AAGGAGCTAC chr7: 100094114 0.9996,0.0003994 0.99987257900101936,0.00012742099898063 Region score:0.46; TSS score:0.19; Unmatched score:0.56; Average GERP:-1.5280277227722767 GeneName:COPS6; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000168090; TranscriptID:ENST00000303904; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MCM7; CADD-Score:2; Consquence:intron; GeneID:ENSG00000166508; TranscriptID:ENST00000303887; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR106B; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000208036; TranscriptID:ENST00000385301; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR25; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207547; TranscriptID:ENST00000384816; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR93; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207757; TranscriptID:ENST00000385024; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002544 20639880 NONHSAT207123.1 rs7774434 C N/A 453 european ancestry cases//945 european ancestry controls,; 481 european ancestry cases//3,706 european ancestry controls EFO_0004267 N/A Associate Primary biliary cholangitis rs7774434-C of NONHSAT207123.1 is significantly associated with the primary biliary cholangitis by using GWAS analysis in 453 european ancestry cases//945 european ancestry controls,; 481 european ancestry cases//3,706 european ancestry controls(p-value = 3E-26 ;OR = 1.75). 0.4 Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis. genome-wide association analysis NONHSAT207123.1 lncRNA Biliary liver cirrhosis 0.451 CAACTCAACA(T > C)CCCATGTCCT chr6: 32689801 0.5455,0.4545 0.60664341233435270,0.39335658766564729 Region score:0.47; TSS score:0.37; Unmatched score:0.41; Average GERP:-0.31292072916666663 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002544 21399635 NONHSAT207123.1 rs7774434 C N/A 1,840 european ancestry cases//5,163 european ancestry controls and (liu et al); 620 european ancestry cases//2,514 european ancestry controls EFO_0004267 N/A Associate Primary biliary cholangitis rs7774434-C of NONHSAT207123.1 is significantly associated with the primary biliary cholangitis by using GWAS analysis in 1,840 european ancestry cases//5,163 european ancestry controls and (liu et al); 620 european ancestry cases//2,514 european ancestry controls(p-value = 4E-34 ;OR = 1.6). 0.4 Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis. genome-wide association analysis NONHSAT207123.1 lncRNA Biliary liver cirrhosis 0.451 CAACTCAACA(T > C)CCCATGTCCT chr6: 32689801 0.5455,0.4545 0.60664341233435270,0.39335658766564729 Region score:0.47; TSS score:0.37; Unmatched score:0.41; Average GERP:-0.31292072916666663 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002545 26634245 NONHSAT211647.1 rs1009115 C N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs1009115-C of NONHSAT211647.1 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 3E-6 ;OR = 0.15). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT211647.1 lncRNA Pulmonary function measurement 0.33 TATTAGTTCT(C > T)TATATATCTT chr7: 8395352 0.1655,0.8345 0.18862289755351681,0.81137710244648318 Region score:0.34; TSS score:0.18; Unmatched score:0.03; Average GERP:-0.15071653465346507 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002546 27863252 NONHSAT207279.1 rs16895831 T N/A 169,545 european ancestry individuals EFO_0007997 N/A Associate Granulocyte percentage of myeloid white cells rs16895831-T of NONHSAT207279.1 is significantly associated with the granulocyte percentage of myeloid white cells by using GWAS analysis in 169,545 european ancestry individuals(p-value = 7E-12 ;OR = 0.0306608). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT207279.1 lncRNA Granulocyte percentage of myeloid white cells 0.33 TGGCTGCCGG(C > T)TGTGGATTCC chr6: 42548053 0.8033,0.1967 0.79576803007135575,0.20423196992864424 Region score:0.39; TSS score:0.39; Unmatched score:0.52; Average GERP:0.009751485148514826 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000790835; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002547 18821564 NONHSAT193307.1 rs9627183 C N/A 105 european ancestry cases//34 hispanic cases//26 african american cases//22 cases EFO_0003888 N/A Associate Attention deficit hyperactivity disorder rs9627183-C of NONHSAT193307.1 is significantly associated with the attention deficit hyperactivity disorder by using GWAS analysis in 105 european ancestry cases//34 hispanic cases//26 african american cases//22 cases(p-value = 3E-6 ;OR = ?). 0.4 Genome-wide association study of response to methylphenidate in 187 children with attention-deficit/hyperactivity disorder. genome-wide association analysis NONHSAT193307.1 lncRNA Attention deficit hyperactivity disorder 0.33 GCTGCAGTGC(G > A)TGGTCCCGGA chr22: 47888765 0.9319,0.06809 0.94564698012232415,0.05435301987767584 Region score:0.3; TSS score:0.29; Unmatched score:0.06; Average GERP:-0.7442900990099008 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002548 27863252 NONHSAT206588.1 rs55713716 A N/A 170,672 european ancestry individuals EFO_0007994 N/A Associate Neutrophil percentage of granulocytes rs55713716-A of NONHSAT206588.1 is significantly associated with the neutrophil percentage of granulocytes by using GWAS analysis in 170,672 european ancestry individuals(p-value = 6E-19 ;OR = 0.04471118). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT206588.1 lncRNA Neutrophil percentage of granulocytes 0.33 TGTGGTGGAC(G > A,T)TACACCATGG chr6: 376329 0.4297,0.5703,. 0.38993214831804281,0.60999617737003058,0.00007167431192660 Region score:0.37; TSS score:0.26; Unmatched score:0.2; Average GERP:-0.9792594059405939 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002549 23535033 NONHSAT104698.2 rs148763909 ? N/A 303 european ancestry cases; EFO_0000249 N/A Associate Alzheimer's disease (cognitive decline) rs148763909-? of NONHSAT104698.2 is significantly associated with the alzheimer's disease (cognitive decline) by using GWAS analysis in 303 european ancestry cases; (p-value = 1E-8 ;OR = 0.15). 0.4 Genome-wide association study of the rate of cognitive decline in Alzheimer's disease. genome-wide association analysis NONHSAT104698.2 lncRNA Alzheimers disease 0.33 CTGAGCAGGG(C > T)GGCGGAGTGT chr5: 154457546 0.9854,0.01458 0.98099834352701325,0.01900165647298674 Region score:0.44; TSS score:0.28; Unmatched score:0.3; Average GERP:-0.5449059405940595 GeneName:SAP30L; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000164576; TranscriptID:ENST00000297109; AnnoType:3PRIME_UTR; mirSVR-Score:-0.0002; mirSVR-E:-23.44 | NCRV0000002550 21892160 miR-17-92_cluster miR-17-92_cluster Deletion - Dominant Skeletal and growth defects Orphanet_404584 N/A Increasing risk Skeletal and growth defects Deletion of miR-17-92_cluster and its dysfunction is significantly associated with the increasing risk of skeletal and growth defects by using analysis of sequence variation in skeletal and growth defects. By using the disease cell lines or tissues, the interference and mutation of miR-17-92_cluster has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. Moreover, the ncRNA variation-disease association was validated by complex experiments. Furthermore, the physiological function of miR-17-92_cluster(mutation or interference expression) is documented by organism models in vivo such as xenograft or transgenic model etc. 2 Germline deletion of the miR-17 approximately 92 cluster causes skeletal and growth defects in humans. analysis of sequence variation; Function miR-17-92_cluster miRNA Rare genetic bone development disorder 0.865 N/A N/A N/A N/A N/A N/A NCRV0000002551 28928442 NONHSAT163579.1 rs71227278 ? N/A 35,000 european ancestry cases//33,478 european ancestry controls EFO_0008413 N/A Associate Urinary tract infection frequency rs71227278-? of NONHSAT163579.1 is significantly associated with the urinary tract infection frequency by using GWAS analysis in 35,000 european ancestry cases//33,478 european ancestry controls(p-value = 3E-6 ;OR = 0.0355). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. genome-wide association analysis NONHSAT163579.1 lncRNA Susceptibility to urinary tract infection measurement 0.33 GGTTGCAGCA(C > CTTAA)TTCTCTCGCC chr12: 53964263 0.6432,0.3568 0.80587410805300713,0.19412589194699286 N/A GeneName:AC012531.4; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000274817; TranscriptID:ENST00000616509; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC012531.5; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277129; TranscriptID:ENST00000611375; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOTAIR; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000228630; TranscriptID:ENST00000424518; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01905; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000275589; TranscriptID:ENST00000611210; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01906; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277994; TranscriptID:ENST00000611352; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002552 27416945 NONHSAT164771.1 rs10506418 A N/A 16,753 european ancestry individuals; 13,354 european ancestry individuals EFO_0001360 BMI interaction Associate Modified stumvoll insulin sensitivity index (bmi interaction) rs10506418-A of NONHSAT164771.1 is significantly associated with the modified stumvoll insulin sensitivity index (bmi interaction) by using GWAS analysis in 16,753 european ancestry individuals; 13,354 european ancestry individuals(p-value = 2E-8 ;OR = 0.0261). 0.4 Genome-Wide Association Study of the Modified Stumvoll Insulin Sensitivity Index Identifies BCL2 and FAM19A2 as Novel Insulin Sensitivity Loci. genome-wide association analysis NONHSAT164771.1 lncRNA Type ii diabetes mellitus 0.33 CAAAGAACCC(G > A)CTATTGCTTT chr12: 61094991 0.9171,0.08287 0.93791411824668705,0.06208588175331294 Region score:0.29; TSS score:0.19; Unmatched score:0.13; Average GERP:-0.17648613861386148 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000460107; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002553 21116278 NONHSAT164488.1 rs10743430 ? N/A 424 european ancestry mild cognitive impairment cases//236 european ancestry alzheimer's disease cases//279 european ancestry controls EFO_0004840 N/A Associate Entorhinal cortical thickness rs10743430-? of NONHSAT164488.1 is significantly associated with the entorhinal cortical thickness by using GWAS analysis in 424 european ancestry mild cognitive impairment cases//236 european ancestry alzheimer's disease cases//279 european ancestry controls(p-value = 6E-7 ;OR = 0.218). 0.4 Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease. genome-wide association analysis NONHSAT164488.1 lncRNA Cortical thickness 0.33 GAGAAAGTTT(C > T)TGGAAAGGGC chr12: 21998639 0.2416,0.7584 0.24104071100917431,0.75895928899082568 Region score:0.38; TSS score:0.25; Unmatched score:0.07; Average GERP:-0.7378594059405943 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002554 26053186 NONHSAT166667.1 rs1323612 ? N/A 362 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//438 european ancestry current smoker individuals//449 latino current smoker individuals//704 japanese ancestry current smoker individuals EFO_0001071 in smokers Associate 3-hydroxypropylmercapturic acid levels in smokers rs1323612-? of NONHSAT166667.1 is significantly associated with the 3-hydroxypropylmercapturic acid levels in smokers by using GWAS analysis in 362 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//438 european ancestry current smoker individuals//449 latino current smoker individuals//704 japanese ancestry current smoker individuals(p-value = 5E-6 ;OR = 0.6004). 0.4 Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer. genome-wide association analysis NONHSAT166667.1 lncRNA Lung cancer 0.33 AGAGTCGGGG(C > A,G,T)TGTCCAGCAA chr13: 42717153 N/A 1 Region score:0.24; TSS score:0.1; Unmatched score:0.03; Average GERP:-0.08213 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002555 26053186 NONHSAT188187.1 rs6714205 ? N/A 362 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//438 european ancestry current smoker individuals//449 latino current smoker individuals//704 japanese ancestry current smoker individuals EFO_0001071 in smokers Associate 3-hydroxypropylmercapturic acid levels in smokers rs6714205-? of NONHSAT188187.1 is significantly associated with the 3-hydroxypropylmercapturic acid levels in smokers by using GWAS analysis in 362 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//438 european ancestry current smoker individuals//449 latino current smoker individuals//704 japanese ancestry current smoker individuals(p-value = 2E-7 ;OR = 0.3626). 0.4 Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer. genome-wide association analysis NONHSAT188187.1 lncRNA Lung cancer 0.33 GGGAGGCTGC(G > A)GCAGGAGAAT chr2: 231879093 0.7514,0.2486 0.65691099643221202,0.34308900356778797 Region score:0.23; TSS score:0.17; Unmatched score:0.09; Average GERP:-0.06665346534653463 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002556 25855136 NONHSAT162210.1 rs11170164 T N/A 4,572 european ancestry cases//266,358 european ancestry controls; up to 956 european ancestry cases//up to 4,214 european ancestry controls//526 cases//528 controls EFO_0004193 N/A Associate Basal cell carcinoma rs11170164-T of NONHSAT162210.1 is significantly associated with the basal cell carcinoma by using GWAS analysis in 4,572 european ancestry cases//266,358 european ancestry controls; up to 956 european ancestry cases//up to 4,214 european ancestry controls//526 cases//528 controls(p-value = 9E-9 ;OR = 1.29). 0.4 New basal cell carcinoma susceptibility loci. genome-wide association analysis NONHSAT162210.1 lncRNA Basal cell cancer 0.52 TTGGATACCT(C > T)CAGGAGGGCA chr12: 52519884 0.9734,0.02656 0.95446292048929663,0.04553707951070336 Region score:0.31; TSS score:0.33; Unmatched score:0.64; Average GERP:2.7896138613861368 GeneName:KRT5; CADD-Score:7; Consquence:missense; GeneID:ENSG00000186081; TranscriptID:ENST00000252242; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000458184; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002556 24403052 NONHSAT162210.1 rs11170164 T N/A 4,208 european ancestry cases//109,408 european ancestry controls; up to 1,480 european ancestry cases//up to 4,610 european ancestry controls EFO_0004193 N/A Associate Basal cell carcinoma rs11170164-T of NONHSAT162210.1 is significantly associated with the basal cell carcinoma by using GWAS analysis in 4,208 european ancestry cases//109,408 european ancestry controls; up to 1,480 european ancestry cases//up to 4,610 european ancestry controls(p-value = 3E-6 ;OR = 1.25). 0.4 Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma. genome-wide association analysis NONHSAT162210.1 lncRNA Basal cell cancer 0.52 TTGGATACCT(C > T)CAGGAGGGCA chr12: 52519884 0.9734,0.02656 0.95446292048929663,0.04553707951070336 Region score:0.31; TSS score:0.33; Unmatched score:0.64; Average GERP:2.7896138613861368 GeneName:KRT5; CADD-Score:7; Consquence:missense; GeneID:ENSG00000186081; TranscriptID:ENST00000252242; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000458184; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002556 27539887 NONHSAT162210.1 rs11170164 T N/A 12.945 european ancestry cases//274,252 european ancestry controls; 4,242 european ancestry cases//12,802 european ancestry controls EFO_0004193 N/A Associate Basal cell carcinoma rs11170164-T of NONHSAT162210.1 is significantly associated with the basal cell carcinoma by using GWAS analysis in 12.945 european ancestry cases//274,252 european ancestry controls; 4,242 european ancestry cases//12,802 european ancestry controls(p-value = 1E-15 ;OR = 1.19). 0.4 Genome-wide association study identifies 14 novel risk alleles associated with basal cell carcinoma. genome-wide association analysis NONHSAT162210.1 lncRNA Basal cell cancer 0.52 TTGGATACCT(C > T)CAGGAGGGCA chr12: 52519884 0.9734,0.02656 0.95446292048929663,0.04553707951070336 Region score:0.31; TSS score:0.33; Unmatched score:0.64; Average GERP:2.7896138613861368 GeneName:KRT5; CADD-Score:7; Consquence:missense; GeneID:ENSG00000186081; TranscriptID:ENST00000252242; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000458184; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002557 22001757 NONHSAT155729.1 rs754466 T N/A up to 52,350 european ancestry individuals//up to 8,739 indian asian ancestry individuals EFO_0001421 N/A Associate Liver enzyme levels (gamma-glutamyl transferase) rs754466-T of NONHSAT155729.1 is significantly associated with the liver enzyme levels (gamma-glutamyl transferase) by using GWAS analysis in up to 52,350 european ancestry individuals//up to 8,739 indian asian ancestry individuals(p-value = 6E-10 ;OR = 3.5). 0.4 Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. genome-wide association analysis NONHSAT155729.1 lncRNA Liver disease 0.33 GGCCAGACCA(A > T)TCAGAATCCT chr10: 77920676 0.7991,0.2009 0.78581326452599388,0.21418673547400611 Region score:0.27; TSS score:0.15; Unmatched score:0.09; Average GERP:-0.4601039603960396 GeneName:DLG5; CADD-Score:2; Consquence:intron; GeneID:ENSG00000151208; TranscriptID:ENST00000372391; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000409036; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002558 23273568 NONHSAT207781.1 rs742108 T N/A 1,656 han chinese ancestry cases//3,394 han chinese ancestry controls; 3,256 han chinese ancestry cases//5,667 han chinese ancestry controls//453 thai ancestry cases//963 thai ancestry controls EFO_0002690 N/A Associate Systemic lupus erythematosus rs742108-T of NONHSAT207781.1 is significantly associated with the systemic lupus erythematosus by using GWAS analysis in 1,656 han chinese ancestry cases//3,394 han chinese ancestry controls; 3,256 han chinese ancestry cases//5,667 han chinese ancestry controls//453 thai ancestry cases//963 thai ancestry controls(p-value = 4E-6 ;OR = 1.24). 0.4 Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians. genome-wide association analysis NONHSAT207781.1 lncRNA Systemic lupus erythematosus 0.33 GAGTAATGCC(G > A)GGCACGGCCA chr6: 106135045 0.8043,0.1957 0.86154912079510703,0.13845087920489296 Region score:0.44; TSS score:0.6; Unmatched score:0.56; Average GERP:1.1066366336633662 GeneName:ATG5; CADD-Score:2; Consquence:intron; GeneID:ENSG00000057663; TranscriptID:ENST00000636437; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000200576; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000800561; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002559 21900946 NONHSAT108579.2 rs4313034 T N/A 1,119 japanese ancestry cases//2,718 japanese ancestry controls; 432 japanese ancestry cases//1,157 japanese ancestry controls EFO_0004237 N/A Associate Graves' disease rs4313034-T of NONHSAT108579.2 is significantly associated with the graves' disease by using GWAS analysis in 1,119 japanese ancestry cases//2,718 japanese ancestry controls; 432 japanese ancestry cases//1,157 japanese ancestry controls(p-value = 2E-15 ;OR = 1.67). 0.4 Identification of independent risk loci for Graves' disease within the MHC in the Japanese population. genome-wide association analysis NONHSAT108579.2 lncRNA Graves disease 0.33 AGGTAAGCAG(C > T)GGGGAAGCAG chr6: 30006148 0.2175,0.7825 0.22637136850152905,0.77362863149847094 Region score:0.35; TSS score:0.52; Unmatched score:0.8; Average GERP:-0.09032139999999998 GeneName:AL671277.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000237669; TranscriptID:ENST00000458060; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HLA-J; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000204622; TranscriptID:ENST00000462773; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000787214; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ZNRD1ASP; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000204623; TranscriptID:ENST00000420251; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002560 27863252 NONHSAT197521.1 rs4328821 G N/A 170,536 european ancestry individuals EFO_0007996 N/A Associate Eosinophil percentage of granulocytes rs4328821-G of NONHSAT197521.1 is significantly associated with the eosinophil percentage of granulocytes by using GWAS analysis in 170,536 european ancestry individuals(p-value = 6E-153 ;OR = 0.1515107). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT197521.1 lncRNA Eosinophil percentage of granulocytes 0.33 CGTGCACCCA(A > G)TTTTAGAGAT chr3: 128597592 0.8073,0.1927 0.85647617227319062,0.14352382772680937 Region score:0.21; TSS score:0.16; Unmatched score:0.03; Average GERP:0.03414851485148518 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002561 28199695 NONHSAT098168.2 rs377070 G N/A 84,724 european ancestry individuals EFO_0008378 N/A Associate Mosquito bite size rs377070-G of NONHSAT098168.2 is significantly associated with the mosquito bite size by using GWAS analysis in 84,724 european ancestry individuals(p-value = 3E-39 ;OR = 0.0704348). 0.4 GWAS of self-reported mosquito bite size, itch intensity and attractiveness to mosquitoes implicates immune-related predisposition loci. genome-wide association analysis NONHSAT098168.2 lncRNA Mosquito bite reaction size measurement 0.33 AAAACACTAG(G > C)AGAATTTGAT chr4: 122707847 0.1653,0.8347 0.24744361620795107,0.75255638379204892 Region score:0.31; TSS score:0.2; Unmatched score:0.08; Average GERP:-0.5249769306930694 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002562 25282103 NONHSAT207500.1 rs12209223 A N/A 253,288 european ancestry individuals; 80,067 european ancestry individuals EFO_0004339 N/A Associate Height rs12209223-A of NONHSAT207500.1 is significantly associated with the height by using GWAS analysis in 253,288 european ancestry individuals; 80,067 european ancestry individuals(p-value = 5E-25 ;OR = 0.051). 0.4 Defining the role of common variation in the genomic and biological architecture of adult human height. genome-wide association analysis NONHSAT207500.1 lncRNA Body height 0.33 ACTGAAGAAC(C > A)AAGGAACAAG chr6: 75454873 0.9383,0.0617 0.92956007900101936,0.07043992099898063 Region score:0.59; TSS score:0.23; Unmatched score:0.46; Average GERP:0.9354633663366334 GeneName:AL445465.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000238156; TranscriptID:ENST00000455530; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:FILIP1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000118407; TranscriptID:ENST00000237172; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000199052; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002563 27374108 miR-200a rs9660710 A Dominant 1341 non-small cell lung cancer (nsclc) cases and 1982 controls EFO_0003060 N/A Increasing risk Non-small cell lung cancer rs9660710-A of miR-200a and its dysfunction is significantly associated with the increasing risk of non-small cell lung cancer by using case-control analysis in 1341 non-small cell lung cancer (NSCLC) cases and 1982 controls. 0.4 Genetic variants in regulatory regions of microRNAs are associated with lung cancer risk. case-control analysis hsa-mir-200a miRNA Non-small cell lung cancer 0.33 GTCTCTCGTG(A > C,T)GGTTTTTTAC chr1: 1163962 0.1701,0.8299,. 0.12792271916411824,0.86937754841997961,0.00269973241590214 Region score:0.36; TSS score:0.46; Unmatched score:0.44; Average GERP:-1.8039633663366341 GeneName:MIR200A; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207607; TranscriptID:ENST00000384875; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR200B; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207730; TranscriptID:ENST00000384997; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000344515; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002564 29878850 CASC16 rs3803662 C Recessive 395 Lung Cancer cases and 556 controls in a Chinese Never-Smoking Female Population EFO_0001071 N/A decreasing risk lung carcinoma rs3803662-C of CASC16 and its dysfunction is significantly associated with the decreasing risk of Lung carcinoma by using case-control analysis in 395 Lung Cancer cases and 556 controls in a Chinese Never-Smoking Female Population 0.4 Association Between Four Polymorphisms in lncRNA and Risk of Lung Cancer in a Chinese Never-Smoking Female Population. case-control analysis CASC16 lncRNA Lung carcinoma 0.33 CTTCGCTAAG(A > G)GACAGCTATA chr16: 52552429 0.4403,0.5597 0.38320272680937818,0.61679727319062181 Region score:0.42; TSS score:0.54; Unmatched score:0.66; Average GERP:1.469700693069307 GeneName:CASC16; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000249231; TranscriptID:ENST00000510238; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TOX3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000103460; TranscriptID:ENST00000407228; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002565 29803923 HULC rs1041279 G N/A 521 patients and 817 sex- and age (卤5) frequency-matched controls in the risk study; Among them, 351 hepatocellular cancer patients were involved in the prognosis study. EFO_0000182 N/A increasing risk hepatocellular carcinoma rs1041279-G of HULC and its dysfunction is significantly associated with the increasing risk of Hepatocellular carcinoma by using case-control analysis in 521 patients and 817 sex- and age (卤5) frequency-matched controls in the risk study; Among them, 351 hepatocellular cancer patients were involved in the prognosis study. 0.4 The association of lncRNA-HULC polymorphisms with hepatocellular cancer risk and prognosis. case-control analysis HULC lncRNA Hepatocellular carcinoma 0.33 CTCTGACCCT(C > G)TTGAGTTTTG chr6: 8650293 0.5651,0.4349 0.56094705657492354,0.43905294342507645 Region score:0.35; TSS score:0.44; Unmatched score:0.43; Average GERP:-0.2952405742574257 GeneName:AL355499.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000285216; TranscriptID:ENST00000644718; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AL591485.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000285219; TranscriptID:ENST00000642357; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF02101; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000276019; TranscriptID:ENST00000612720; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002566 28448500 NONHSAT141526.2 rs2008514 ? N/A 2,518 african american women//86,278 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//55,137 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men EFO_0001073 joint analysis main effects and physical activity interaction Associate Body mass index (joint analysis main effects and physical activity interaction) rs2008514-? of NONHSAT141526.2 is significantly associated with the body mass index (joint analysis main effects and physical activity interaction) by using GWAS analysis in 2,518 african american women//86,278 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//55,137 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men(p-value = 8E-10 ;OR = ?). 0.4 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. genome-wide association analysis NONHSAT141526.2 lncRNA Obesity 0.451 TGGCCTAATA(G > A)GTACCTGGCA chr16: 28814284 0.737,0.263 0.66430937818552497,0.33569062181447502 Region score:0.42; TSS score:0.1; Unmatched score:0.43; Average GERP:0.15607500000000019 GeneName:AC145285.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000240634; TranscriptID:ENST00000469929; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC145285.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000251417; TranscriptID:ENST00000507031; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002566 28448500 NONHSAT141526.2 rs2008514 A N/A 2,518 african american women//86,278 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//55,137 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men EFO_0001073 joint analysis main effects and physical activity interaction Associate Body mass index rs2008514-A of NONHSAT141526.2 is significantly associated with the body mass index by using GWAS analysis in 2,518 african american women//86,278 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//55,137 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men(p-value = 1E-10 ;OR = 0.0339). 0.4 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. genome-wide association analysis NONHSAT141526.2 lncRNA Obesity 0.451 TGGCCTAATA(G > A)GTACCTGGCA chr16: 28814284 0.737,0.263 0.66430937818552497,0.33569062181447502 Region score:0.42; TSS score:0.1; Unmatched score:0.43; Average GERP:0.15607500000000019 GeneName:AC145285.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000240634; TranscriptID:ENST00000469929; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC145285.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000251417; TranscriptID:ENST00000507031; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002567 23555923 hsa-mir-1274a rs318039 T N/a 191 patients with tnbc and 192 healthy female controls EFO_0005537 N/A No significance for risk Triple-negative breast cancer rs318039-T of hsa-mir-1274a and its dysfunction is not significantly associated with Triple-negative breast cancer by using case-control analysis in 191 patients with TNBC and 192 healthy female controls. -0.4 There is no association between microRNA gene polymorphisms and risk of triple negative breast cancer in a Chinese Han population. case-control analysis hsa-mir-1274a miRNA Triple-negative breast cancer -0.33 CAGGCGCCAC(C > T)TGTGGCTGTC chr5: 41475664 0.6348,0.3652 0.61917845310907237,0.38082154689092762 Region score:0.25; TSS score:0.1; Unmatched score:0.04; Average GERP:0.12499999999999988 GeneName:PLCXD3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000182836; TranscriptID:ENST00000377801; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002568 24503492 miR-618 rs2682818 T N/a 455 cases and 527 controls DOID_0050873 N/A Increasing risk Follicular lymphoma rs2682818-T of miR-618 and its dysfunction is significantly associated with the increasing risk of follicular lymphoma by using case-control analysis in 455 cases and 527 controls. By using the disease cell lines or tissues, the interference and mutation of miR-618 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 Targetome profiling and functional genetics implicate miR-618 in lymphomagenesis. case-control analysis; Function hsa-mir-618 miRNA Follicular lymphoma 0.593 CACAGGGTAA(A > C,T)CCTGCTTGTC chr12: 80935757 0.2424,0.7576,. 0.19708046636085626,0.80291953363914373,. Region score:0.28; TSS score:0.39; Unmatched score:0.77; Average GERP:-0.7771772277227725 GeneName:ACSS3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000111058; TranscriptID:ENST00000549175; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LIN7A; CADD-Score:2; Consquence:intron; GeneID:ENSG00000111052; TranscriptID:ENST00000552864; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR618; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000208022; TranscriptID:ENST00000385287; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000054588; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002569 23753411 NONHSAT080606.2 rs2273359 C N/A 424 european ancestry individuals; 841 european ancestry individuals GO_0036270 N/A Associate Response to diuretic therapy in hypertension rs2273359-C of NONHSAT080606.2 is significantly associated with the response to diuretic therapy in hypertension by using GWAS analysis in 424 european ancestry individuals; 841 european ancestry individuals(p-value = 6E-8 ;OR = 8.15). 0.4 Genomic association analysis of common variants influencing antihypertensive response to hydrochlorothiazide. genome-wide association analysis NONHSAT080606.2 lncRNA Response to diruetic 0.33 CTGCTTGCCT(C > G,T)TTATCTTTGA chr20: 58987047 0.9505,0.04952,. 0.96041985219164118,0.03957218399592252,0.00000796381243628 Region score:0.51; TSS score:0.2; Unmatched score:0.39; Average GERP:0.3898079207920793 GeneName:NELFCD; CADD-Score:2; Consquence:intron; GeneID:ENSG00000101158; TranscriptID:ENST00000602795; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002570 25650003 miR-149 rs2292832 C N/A Chinese Uygur (n = 662), Kazak (n = 612), and Southern Han (n = 654) populations EFO_1000049 N/A no significance for risk pulmonary tuberculosis rs2292832-C of hsa-mir-149 and its dysfunction is not significantly associated with Pulmonary tuberculosis by using case-control analysis in Chinese Uygur (n = 662), Kazak (n = 612), and Southern Han (n = 654) populations -0.4 Association of the miR-146a, miR-149, miR-196a2 and miR-499 polymorphisms with susceptibility to pulmonary tuberculosis in the Chinese Uygur, Kazak and Southern Han populations. case-control analysis hsa-mir-149 miRNA Pulmonary tuberculosis -0.33 CTGGGGCAGC(T > A,C)GGAACAACGC chr2: 240456086 0.3866,.,0.6134 0.31987449031600407,0.00025484199796126,0.67987066768603465 Region score:0.3; TSS score:0.39; Unmatched score:0.89; Average GERP:1.5002722772277222 GeneName:AC110619.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000218416; TranscriptID:ENST00000404891; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GPC1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000063660; TranscriptID:ENST00000264039; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR149; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207611; TranscriptID:ENST00000384879; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000133146; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002571 22778062 SNORA78 rs35754181 T N/A N/A function N/A not significant changes in the structure function rs35754181-T of SNORA78 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in nan -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORA78 snoRNA function -0.049 TCACCGCGCG(C > G)TGCCCCATGT chr16: 1965271 0 RS=35754181;RSPOS=1965271;dbSNPBuildID=126;SSR=0;SAO=0;VP=0x0500000a0005000102000100;GENEINFO=SNHG9:735301|RPS2:6187|RNF151:146310|SNORA78:677844;WGT=1;VC=SNV;INT;R5;ASP;GNO Region score:0.4; TSS score:0.42; Unmatched score:0.89; Average GERP:2.065169 GeneName:AC005363.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000255513; TranscriptID:ENST00000530779; AnnoType:UPSTREAM; mirSVR-Score:-0.1705; mirSVR-E:-19.49 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000082416; AnnoType:REGULATORY; mirSVR-Score:-0.1705; mirSVR-E:-19.49 | GeneName:NDUFB10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000140990; TranscriptID:ENST00000268668; AnnoType:DOWNSTREAM; mirSVR-Score:-0.1705; mirSVR-E:-19.49 | GeneName:RNF151; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000179580; TranscriptID:ENST00000569714; AnnoType:UPSTREAM; mirSVR-Score:-0.1705; mirSVR-E:-19.49 | GeneName:RPS2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000140988; TranscriptID:ENST00000343262; AnnoType:UPSTREAM; mirSVR-Score:-0.1705; mirSVR-E:-19.49 | GeneName:SNHG9; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000255198; TranscriptID:ENST00000564014; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.1705; mirSVR-E:-19.49 | GeneName:SNORA10; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000206811; TranscriptID:ENST00000384084; AnnoType:UPSTREAM; mirSVR-Score:-0.1705; mirSVR-E:-19.49 | GeneName:SNORA64; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207405; TranscriptID:ENST00000384674; AnnoType:UPSTREAM; mirSVR-Score:-0.1705; mirSVR-E:-19.49 | GeneName:SNORA78; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000273587; TranscriptID:ENST00000459373; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.1705; mirSVR-E:-19.49 | NCRV0000002572 27082954 NONHSAT222071.1 rs2479587 C N/A 104 european ancestry cases//1,519 european ancestry controls//34 african american cases//520 african american controls EFO_0004265 traffic-related air pollution interaction Associate Peripheral arterial disease (traffic-related air pollution interaction) rs2479587-C of NONHSAT222071.1 is significantly associated with the peripheral arterial disease (traffic-related air pollution interaction) by using GWAS analysis in 104 european ancestry cases//1,519 european ancestry controls//34 african american cases//520 african american controls(p-value = 2E-6 ;OR = 7.07). 0.4 Genetic Variants in the Bone Morphogenic Protein Gene Family Modify the Association between Residential Exposure to Traffic and Peripheral Arterial Disease. genome-wide association analysis NONHSAT222071.1 lncRNA Peripheral arterial disease 0.33 TCCTTCTCAT(G > T)TTTATGTAAT chr9: 94310365 N/A 0.11803962793068297,0.88196037206931702 Region score:0.4; TSS score:0.16; Unmatched score:0.05; Average GERP:0.05383168316831678 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002573 27629369 NONHSAT206095.1 rs142233735 ? N/A 8,490 european ancestry individuals//1,228 african american individuals//867 hispanic american individuals//175 individuals EFO_0007865 N/A Associate Loneliness (multivariate analysis) rs142233735-? of NONHSAT206095.1 is significantly associated with the loneliness (multivariate analysis) by using GWAS analysis in 8,490 european ancestry individuals//1,228 african american individuals//867 hispanic american individuals//175 individuals(p-value = 8E-6 ;OR = ?). 0.4 Genome-Wide Association Study of Loneliness Demonstrates a Role for Common Variation. genome-wide association analysis NONHSAT206095.1 lncRNA Loneliness measurement 0.33 AGGCCGAGGC(G > A,C,T)GGTGGATCAC chr5: 93000772 0.9954,0.004593,.,. 0.98841265290519877,0.01157938328236493,.,0.00000796381243628 Region score:0.21; TSS score:0.07; Unmatched score:0.01; Average GERP:0.030801980198019812 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002574 23284291 NONHSAT208254.1 rs3734729 A N/A 50,047 european ancestry individuals EFO_0003892 smoking interaction Associate Pulmonary function (smoking interaction) rs3734729-A of NONHSAT208254.1 is significantly associated with the pulmonary function (smoking interaction) by using GWAS analysis in 50,047 european ancestry individuals(p-value = 4E-7 ;OR = ?). 0.4 Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function. genome-wide association analysis NONHSAT208254.1 lncRNA Pulmonary function measurement 0.451 AGGAAAGCAG(A > C,G)TCAAAAGAAA chr6: 150249731 0.9323,.,0.06769 0.94184824159021406,0.00001592762487257,0.05813583078491335 Region score:0.43; TSS score:0.83; Unmatched score:0.69; Average GERP:0.8089497029702967 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000205133; AnnoType:REGULATORY; mirSVR-Score:-0.0349; mirSVR-E:-9.85 | GeneName:PPP1R14C; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000198729; TranscriptID:ENST00000361131; AnnoType:3PRIME_UTR; mirSVR-Score:-0.0349; mirSVR-E:-9.85 | NCRV0000002574 21946350 NONHSAT208254.1 rs3734729 G N/A 48,201 european ancestry individuals; 46,411 european ancestry individuals EFO_0003892 N/A Associate Pulmonary function rs3734729-G of NONHSAT208254.1 is significantly associated with the pulmonary function by using GWAS analysis in 48,201 european ancestry individuals; 46,411 european ancestry individuals(p-value = 4E-6 ;OR = 0.055). 0.4 Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function. genome-wide association analysis NONHSAT208254.1 lncRNA Pulmonary function measurement 0.451 AGGAAAGCAG(A > C,G)TCAAAAGAAA chr6: 150249731 0.9323,.,0.06769 0.94184824159021406,0.00001592762487257,0.05813583078491335 Region score:0.43; TSS score:0.83; Unmatched score:0.69; Average GERP:0.8089497029702967 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000205133; AnnoType:REGULATORY; mirSVR-Score:-0.0349; mirSVR-E:-9.85 | GeneName:PPP1R14C; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000198729; TranscriptID:ENST00000361131; AnnoType:3PRIME_UTR; mirSVR-Score:-0.0349; mirSVR-E:-9.85 | NCRV0000002575 27863252 NONHSAT221502.1 rs369457490 AAAAT N/A 171,643 european ancestry individuals EFO_0004587 N/A Associate Lymphocyte counts rs369457490-AAAAT of NONHSAT221502.1 is significantly associated with the lymphocyte counts by using GWAS analysis in 171,643 european ancestry individuals(p-value = 1E-20 ;OR = 0.03521166). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT221502.1 lncRNA Lymphocyte count 0.33 CTACGTCTCA(A > AAAAT,AAAATAAAT,AAAATAAATAAAT,AAAATAAATAAATAAAT,AAAATAAGT,AAAATAAGTAAAT,AGAAT)AAATAAATAA chr9: 137038608 0.3283,0.6717,.,.,.,.,.,. 0.40046030835881753,0.46014111875637104,0.13066227064220183,0.00813901630988786,0.00036633537206931,0.00013538481141692,0.00007963812436289,0.00001592762487257 N/A GeneName:AL807752.6; CADD-Score:2; Consquence:intron,NMD; GeneID:ENSG00000279073; TranscriptID:ENST00000622933; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:C9orf139; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180539; TranscriptID:ENST00000623196; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NPDC1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000107281; TranscriptID:ENST00000371601; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002576 27863252 NONHSAT026062.2 rs12296430 C N/A 171,542 european ancestry individuals EFO_0007990 N/A Associate Neutrophil percentage of white cells rs12296430-C of NONHSAT026062.2 is significantly associated with the neutrophil percentage of white cells by using GWAS analysis in 171,542 european ancestry individuals(p-value = 3E-20 ;OR = 0.04239733). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT026062.2 lncRNA Neutrophil percentage of leukocytes 0.33 GGACGGTAAG(G > C)GGATGGCTGC chr12: 6394334 0.8668,0.1332 0.84331995412844036,0.15668004587155963 Region score:0.34; TSS score:0.16; Unmatched score:0.26; Average GERP:-0.06228712871287133 GeneName:AC005840.2; CADD-Score:5; Consquence:splice,intron,non_coding; GeneID:ENSG00000256433; TranscriptID:ENST00000541888; AnnoType:SPLICE_SITE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LTBR; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000111321; TranscriptID:ENST00000228918; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000048298; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002577 24978643 MIR149 rs2292832 C N/A 350 ESRD patients and 350 age-matched, sex-matched, and ethnically matched controls. EFO_0003884 N/A no significance for risk chronic kidney disease rs2292832-C of hsa-mir-149 and its dysfunction is not significantly associated with Chronic kidney disease by using case-control analysis in 350 ESRD patients and 350 age-matched, sex-matched, and ethnically matched controls. -0.4 Genetic variants of MicroRNA-related genes in susceptibility and prognosis of end-stage renal disease and renal allograft outcome among north Indians. case-control analysis hsa-mir-149 miRNA Chronic kidney disease -0.33 CTGGGGCAGC(T > A,C)GGAACAACGC chr2: 240456086 0.3866,.,0.6134 0.31987449031600407,0.00025484199796126,0.67987066768603465 Region score:0.3; TSS score:0.39; Unmatched score:0.89; Average GERP:1.5002722772277222 GeneName:AC110619.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000218416; TranscriptID:ENST00000404891; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GPC1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000063660; TranscriptID:ENST00000264039; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR149; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207611; TranscriptID:ENST00000384879; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000133146; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002578 23518928 NONHSAT024999.2 rs10501858 ? N/A 700 european ancestry cases//50 african ancestry cases//17 asian ancestry cases//5 american indian ancestry cases EFO_0004697 N/A Associate Estradiol plasma levels (breast cancer) rs10501858-? of NONHSAT024999.2 is significantly associated with the estradiol plasma levels (breast cancer) by using GWAS analysis in 700 european ancestry cases//50 african ancestry cases//17 asian ancestry cases//5 american indian ancestry cases(p-value = 1E-6 ;OR = 1.539). 0.4 TSPYL5 SNPs: association with plasma estradiol concentrations and aromatase expression. genome-wide association analysis NONHSAT024999.2 lncRNA Estradiol measurement 0.33 TCCTACTACC(G > A)TTTACTGCAA chr11: 126160720 0.8992,0.1008 0.92584097859327217,0.07415902140672782 Region score:0.51; TSS score:0.7; Unmatched score:0.92; Average GERP:1.5267099009900995 GeneName:AP001893.3; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000254833; TranscriptID:ENST00000532357; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000445823; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002579 21627779 NONHSAT182593.1 rs744373 ? N/A 319 european ancestry cases//769 european ancestry controls//2,690 cases//2,237 controls; 4,982 european ancestry cases//7,961 european ancestry controls//2,190 cases//3,374 controls EFO_0000249 N/A Associate Alzheimer's disease rs744373-? of NONHSAT182593.1 is significantly associated with the alzheimer's disease by using GWAS analysis in 319 european ancestry cases//769 european ancestry controls//2,690 cases//2,237 controls; 4,982 european ancestry cases//7,961 european ancestry controls//2,190 cases//3,374 controls(p-value = 2E-9 ;OR = 1.18). 0.4 The membrane-spanning 4-domains, subfamily A (MS4A) gene cluster contains a common variant associated with Alzheimer's disease. genome-wide association analysis NONHSAT182593.1 lncRNA Alzheimers disease 0.52 AGCCTCTGAG(A > G)GCCTCAGACC chr2: 127137039 0.642,0.358 0.64111875637104994,0.35888124362895005 Region score:0.35; TSS score:0.36; Unmatched score:0.17; Average GERP:-0.5648000000000001 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002579 21460840 NONHSAT182593.1 rs744373 ? N/A 6,688 european ancestry cases//13,685 european ancestry controls; 13,182 european ancestry cases//26,161 european ancestry controls EFO_0000249 N/A Associate Alzheimer's disease rs744373-? of NONHSAT182593.1 is significantly associated with the alzheimer's disease by using GWAS analysis in 6,688 european ancestry cases//13,685 european ancestry controls; 13,182 european ancestry cases//26,161 european ancestry controls(p-value = 3E-14 ;OR = 1.17). 0.4 Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. genome-wide association analysis NONHSAT182593.1 lncRNA Alzheimers disease 0.52 AGCCTCTGAG(A > G)GCCTCAGACC chr2: 127137039 0.642,0.358 0.64111875637104994,0.35888124362895005 Region score:0.35; TSS score:0.36; Unmatched score:0.17; Average GERP:-0.5648000000000001 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002579 21390209 NONHSAT182593.1 rs744373 ? N/A 1,831 european ancestry cases//1,764 european ancestry controls; 751 cases//751 controls EFO_0000249 N/A Associate Alzheimer's disease (late onset) rs744373-? of NONHSAT182593.1 is significantly associated with the alzheimer's disease (late onset) by using GWAS analysis in 1,831 european ancestry cases//1,764 european ancestry controls; 751 cases//751 controls(p-value = 1E-10 ;OR = 1.19). 0.4 Meta-analysis for genome-wide association study identifies multiple variants at the BIN1 locus associated with late-onset Alzheimer's disease. genome-wide association analysis NONHSAT182593.1 lncRNA Alzheimers disease 0.52 AGCCTCTGAG(A > G)GCCTCAGACC chr2: 127137039 0.642,0.358 0.64111875637104994,0.35888124362895005 Region score:0.35; TSS score:0.36; Unmatched score:0.17; Average GERP:-0.5648000000000001 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002580 21946350 NONHSAT172351.1 rs2036527 G N/A 48,201 european ancestry individuals; 46,411 european ancestry individuals EFO_0003892 N/A Associate Pulmonary function rs2036527-G of NONHSAT172351.1 is significantly associated with the pulmonary function by using GWAS analysis in 48,201 european ancestry individuals; 46,411 european ancestry individuals(p-value = 7E-7 ;OR = 0.026). 0.4 Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function. genome-wide association analysis NONHSAT172351.1 lncRNA Pulmonary function measurement 0.52 ATTACCAAAC(G > A)ATTTCCAATT chr15: 78559273 0.8019,0.1981 0.72308231396534148,0.27691768603465851 Region score:0.53; TSS score:0.46; Unmatched score:0.33; Average GERP:0.397948613861386 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000522518; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002580 26634245 NONHSAT172351.1 rs2036527 A N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs2036527-A of NONHSAT172351.1 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 9E-15 ;OR = 0.071). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT172351.1 lncRNA Pulmonary function measurement 0.52 ATTACCAAAC(G > A)ATTTCCAATT chr15: 78559273 0.8019,0.1981 0.72308231396534148,0.27691768603465851 Region score:0.53; TSS score:0.46; Unmatched score:0.33; Average GERP:0.397948613861386 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000522518; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002580 26634245 NONHSAT172351.1 rs2036527 ? N/A 6,659 european ancestry current and former smoker individuals EFO_0003892 N/A Associate Pre bronchodilator fev1/fvc ratio rs2036527-? of NONHSAT172351.1 is significantly associated with the pre bronchodilator fev1/fvc ratio by using GWAS analysis in 6,659 european ancestry current and former smoker individuals(p-value = 4E-10 ;OR = 0.01665). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT172351.1 lncRNA Pulmonary function measurement 0.52 ATTACCAAAC(G > A)ATTTCCAATT chr15: 78559273 0.8019,0.1981 0.72308231396534148,0.27691768603465851 Region score:0.53; TSS score:0.46; Unmatched score:0.33; Average GERP:0.397948613861386 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000522518; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002581 26152337 hsa-mir-423 rs6505162 A N/a 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs6505162-A of hsa-mir-423 and its dysfunction is not significantly associated with hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors. -0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. case-control analysis hsa-mir-423 miRNA Hepatocellular cancer -0.451 TTGCTTCCTA(A > C,T)CCCGCGCTTG chr17: 30117165 0.5022,0.4978,. 0.57055937818552497,0.42940876656472986,0.00003185524974515 Region score:0.43; TSS score:0.32; Unmatched score:0.93; Average GERP:3.269841584158416 GeneName:AC104984.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000265394; TranscriptID:ENST00000582938; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC104984.5; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000266919; TranscriptID:ENST00000586878; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3184; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284399; TranscriptID:ENST00000637796; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR423; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000283935; TranscriptID:ENST00000362201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000092957; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NSRP1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000126653; TranscriptID:ENST00000247026; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002581 24854593 miR-423 rs6505162 C N/a 984 patients with hcc and 991 cancer-free controls EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs6505162-C of miR-423 and its dysfunction is not significantly associated with hepatocellular carcinoma by using case-control analysis in 984 patients with HCC and 991 cancer-free controls. -0.4 Identification of miR-423 and miR-499 polymorphisms on affecting the risk of hepatocellular carcinoma in a large-scale population. case-control analysis hsa-mir-423 miRNA Hepatocellular cancer -0.451 TTGCTTCCTA(A > C,T)CCCGCGCTTG chr17: 30117165 0.5022,0.4978,. 0.57055937818552497,0.42940876656472986,0.00003185524974515 Region score:0.43; TSS score:0.32; Unmatched score:0.93; Average GERP:3.269841584158416 GeneName:AC104984.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000265394; TranscriptID:ENST00000582938; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC104984.5; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000266919; TranscriptID:ENST00000586878; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3184; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284399; TranscriptID:ENST00000637796; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR423; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000283935; TranscriptID:ENST00000362201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000092957; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NSRP1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000126653; TranscriptID:ENST00000247026; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002582 26152337 hsa-mir-1307 rs7911488 G N/A 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A no significance for risk hepatocellular carcinoma rs7911488-G of hsa-mir-1307 and its dysfunction is not significantly associated with Hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors -0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. case-control analysis hsa-mir-1307 miRNA Hepatocellular carcinoma -0.33 TCGATTGGCA(A > G)CACAGACGAG chr10: 103394332 0.6963,0.3037 0.74701357033639143,0.25298642966360856 Region score:0.63; TSS score:0.5; Unmatched score:0.92; Average GERP:1.6468405940594049 GeneName:ATP5MD; CADD-Score:3; Consquence:5_prime_UTR; GeneID:ENSG00000173915; TranscriptID:ENST00000369825; AnnoType:5PRIME_UTR; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR1307; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000283867; TranscriptID:ENST00000408840; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PDCD11; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000148843; TranscriptID:ENST00000369797; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002583 23028341 NONHSAT207112.1 rs2075799 T N/A 1,999 han chinese ancestry male individuals; 1,496 han chinese ancestry male individuals EFO_0005741 N/A Associate Complement c3 and c4 levels rs2075799-T of NONHSAT207112.1 is significantly associated with the complement c3 and c4 levels by using GWAS analysis in 1,999 han chinese ancestry male individuals; 1,496 han chinese ancestry male individuals(p-value = 6E-97 ;OR = 0.17). 0.4 Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects. genome-wide association analysis NONHSAT207112.1 lncRNA Infectious disease 0.33 CGCCCCCAGC(C > T)GTCTCCAGCC chr6: 31810752 0.8464,0.1536 0.86381880733944954,0.13618119266055045 Region score:0.28; TSS score:0.28; Unmatched score:0.63; Average GERP:2.4906930693069294 GeneName:HSPA1A; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000204389; TranscriptID:ENST00000375651; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HSPA1L; CADD-Score:5; Consquence:synonymous; GeneID:ENSG00000204390; TranscriptID:ENST00000375654; AnnoType:SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LSM2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000204392; TranscriptID:ENST00000375661; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002584 24262325 NONHSAT159720.1 rs9326246 C N/A 33,398 cases//75,726 controls EFO_0000378 N/A Associate Coronary artery disease rs9326246-C of NONHSAT159720.1 is significantly associated with the coronary artery disease by using GWAS analysis in 33,398 cases//75,726 controls(p-value = 3E-7 ;OR = 1.15). 0.4 Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants. genome-wide association analysis NONHSAT159720.1 lncRNA Coronary artery disease 0.33 GCCATCCTGG(C > G)TGGCAACAGC chr11: 116741017 0.1256,0.8744 0.07207250254841997,0.92792749745158002 Region score:0.25; TSS score:0.17; Unmatched score:0.12; Average GERP:-0.2516530000000002 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002585 22778062 SNORD115-15 rs72546385 T N/A N/A function N/A not significant changes in the structure function rs72546385-T of SNORD115-15 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in nan -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD115-15 snoRNA function -0.049 TGGGTTGGGT(C > T)GATGATGAGA chr15: 25197580 0.9988,0.001198 0.99947438837920489,0.00052561162079510 Region score:0.46; TSS score:0.13; Unmatched score:0.54; Average GERP:-0.24111980198019814 GeneName:SNHG14; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000224078; TranscriptID:ENST00000424333; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORD115-13; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000273835; TranscriptID:ENST00000363358; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORD115-14; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000199960; TranscriptID:ENST00000363090; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORD115-15; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000201679; TranscriptID:ENST00000364809; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORD115-16; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000200757; TranscriptID:ENST00000363887; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORD115-17; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000201482; TranscriptID:ENST00000364612; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002586 22661538 mir30c-1 rs16827546 ? N/a 1,097 patients with crc EFO_0005842 N/A No significance for risk Colorectal cancer (crc) receiving first-line fluoropyrimidine-based chemotherapy rs16827546-? of mir30c-1 and its dysfunction is not significantly associated with colorectal cancer (CRC) receiving first-line fluoropyrimidine-based chemotherapy by using analysis of sequence variation in 1,097 patients with CRC. -0.4 Genetic polymorphisms in MicroRNA-related genes as predictors of clinical outcomes in colorectal adenocarcinoma patients. analysis of sequence variation hsa-mir-30c-1 miRNA Colorectal cancer -0.33 ACACAGGTCA(C > T)TCCGGATCAG chr1: 40757217 0.9213,0.07867 0.92405708460754332,0.07594291539245667 Region score:0.7; TSS score:0.51; Unmatched score:0.7; Average GERP:1.7444316831683169 GeneName:MIR30C1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207962; TranscriptID:ENST00000385227; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR30E; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000198974; TranscriptID:ENST00000362104; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NFYC; CADD-Score:2; Consquence:intron; GeneID:ENSG00000066136; TranscriptID:ENST00000308733; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002587 26297903 NONHSAT114476.2 rs6568686 ? N/A 723 european ancestry cases EFO_0000289 N/A Associate Depressive and manic episodes in bipolar disorder rs6568686-? of NONHSAT114476.2 is significantly associated with the depressive and manic episodes in bipolar disorder by using GWAS analysis in 723 european ancestry cases(p-value = 4E-8 ;OR = 0.11). 0.4 Genetics of long-term treatment outcome in bipolar disorder. genome-wide association analysis NONHSAT114476.2 lncRNA Bipolar disorder 0.33 TTTACCACAG(T > C)CTTGTTTGGA chr6: 111551279 0.1058,0.8942 0.17048133282364933,0.82951866717635066 Region score:0.38; TSS score:0.32; Unmatched score:0.31; Average GERP:-0.15806633663366343 GeneName:TRAF3IP2-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000231889; TranscriptID:ENST00000438298; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002588 23241943 NONHSAT159467.1 rs7395555 C N/A up to 421 european ancestry schizophrenia cases//up to 214 african american individuals//up to 103 individuals GO_0097337 N/A Associate Response to antipsychotic treatment rs7395555-C of NONHSAT159467.1 is significantly associated with the response to antipsychotic treatment by using GWAS analysis in up to 421 european ancestry schizophrenia cases//up to 214 african american individuals//up to 103 individuals(p-value = 2E-7 ;OR = ?). 0.4 Genome-wide association study of patient-rated and clinician-rated global impression of severity during antipsychotic treatment. genome-wide association analysis NONHSAT159467.1 lncRNA Response to ziprasidone 0.33 CCAGCATACT(G > C)GTTTTCTCGG chr11: 80347435 0.8401,0.1599 0.85619743883792048,0.14380256116207951 Region score:0.44; TSS score:0.41; Unmatched score:0.13; Average GERP:0.3275706534653465 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002589 27989323 NONHSAT089837.2 rs183139656 C N/A 8,243 finnish ancestry individuals EFO_0005140 N/A Associate Macrophage inflammatory protein 1b levels rs183139656-C of NONHSAT089837.2 is significantly associated with the macrophage inflammatory protein 1b levels by using GWAS analysis in 8,243 finnish ancestry individuals(p-value = 3E-14 ;OR = 0.3095). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. genome-wide association analysis NONHSAT089837.2 lncRNA Autoimmune disease 0.33 TGTCTTCTTC(C > T)CTCCAGGGTC chr3: 50362214 0.9978,0.002196 0.99922751019367991,0.00077248980632008 Region score:0.43; TSS score:0.33; Unmatched score:0.39; Average GERP:-0.3688292929292925 GeneName:CACNA2D2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000007402; TranscriptID:ENST00000479441; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CYB561D2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000114395; TranscriptID:ENST00000490926; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CYB561D2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000271858; TranscriptID:ENST00000607121; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TMEM115; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000126062; TranscriptID:ENST00000266025; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:Z84492.1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000272104; TranscriptID:ENST00000606589; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002590 26152337 hsa-mir-202 rs12355840 C N/a 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs12355840-C of hsa-mir-202 and its dysfunction is not significantly associated with hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors. -0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. case-control analysis hsa-mir-202 miRNA Hepatocellular cancer -0.33 GAACGGCGGG(C > G,T)GGCTCTGAGG chr10: 133247608 N/A 0.20326834862385321,0.11666188837920489,0.68006976299694189 Region score:0.38; TSS score:0.4; Unmatched score:0.9; Average GERP:0.18739584158415806 GeneName:MIR202; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000284219; TranscriptID:ENST00000362219; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR202HG; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000166917; TranscriptID:ENST00000553459; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000420758; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002591 26152337 hsa-mir-938 rs12416605 T N/A 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A no significance for risk hepatocellular carcinoma rs12416605-T of hsa-mir-938 and its dysfunction is not significantly associated with Hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors -0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. case-control analysis hsa-mir-938 miRNA Hepatocellular carcinoma -0.33 CCTTTAAGGG(C > T)ACATGGTACA chr10: 29602331 0.875,0.125 0.81958779306829765,0.18041220693170234 Region score:0.34; TSS score:0.06; Unmatched score:0.41; Average GERP:-0.7954999009900992 GeneName:MIR938; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000216035; TranscriptID:ENST00000401216; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000399692; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SVIL; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197321; TranscriptID:ENST00000355867; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002592 29047230 LINC00205 LINC00205 Amplification - Dominant Hepatocellular carcinoma and normal tissues using tcga rna sequencing data EFO_0000182 N/A Poor prognosis Hepatocellular carcinoma Amplification of LINC00205 and its dysfunction is significantly associated with the poor prognosis of hepatocellular carcinoma by using case-control analysis in hepatocellular carcinoma and normal tissues using TCGA RNA sequencing data. 0.4 A comprehensive genome-wide analysis of long noncoding RNA expression profile in hepatocellular carcinoma. analysis of sequence variation; Function LINC00205 lncRNA Hepatocellular cancer 0.33 N/A N/A N/A N/A N/A N/A NCRV0000002593 26634245 NONHSAT120058.2 rs181328644 C N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio rs181328644-C of NONHSAT120058.2 is significantly associated with the post bronchodilator fev1/fvc ratio by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 3E-6 ;OR = 0.348). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT120058.2 lncRNA Pulmonary function measurement 0.33 TCTGTATTTA(T > C)AGCAACTCAC chr7: 34859802 0.9996,0.0003994 0.99969737512742099,0.00030262487257900 Region score:0.39; TSS score:0.19; Unmatched score:0.11; Average GERP:-0.5456488118811882 GeneName:NPSR1-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000197085; TranscriptID:ENST00000431669; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NPSR1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000187258; TranscriptID:ENST00000359791; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002594 24684796 NONHSAT153875.1 rs35214987 G N/A 423 type 2 diabetes cases and 127 unaffected siblings from 257 families EFO_0003925 N/A Associate Cognitive function rs35214987-G of NONHSAT153875.1 is significantly associated with the cognitive function by using GWAS analysis in 423 type 2 diabetes cases and 127 unaffected siblings from 257 families(p-value = 9E-7 ;OR = 3.3262). 0.4 Heritability and genetic association analysis of cognition in the Diabetes Heart Study. genome-wide association analysis NONHSAT153875.1 lncRNA Cognition 0.33 ATAATTAAAC(G > A,C)ATTTACTCTC chr1: 87760646 0.7113,.,0.2887 0.63420616717635066,0.00033448012232415,0.36545935270132517 Region score:0.47; TSS score:0.34; Unmatched score:0.24; Average GERP:0.07879801980198022 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000364405; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PKN2-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000237505; TranscriptID:ENST00000645056; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002595 29059430 NONHSAT024388.2 rs74949440 T N/A 131 european ancestry cases//493 european ancestry controls EFO_0000305 treated with more than 10 gray radiotherapy Associate Breast cancer in childhood cancer survivors treated with more than 10 gray radiotherapy rs74949440-T of NONHSAT024388.2 is significantly associated with the breast cancer in childhood cancer survivors treated with more than 10 gray radiotherapy by using GWAS analysis in 131 european ancestry cases//493 european ancestry controls(p-value = 6E-8 ;OR = 2.59). 0.4 Genome-Wide Association Study to Identify Susceptibility Loci That Modify Radiation-Related Risk for Breast Cancer After Childhood Cancer.LID - 10.1093/jnci/djx058 [doi]AB - Background: Childhood cancer survivors treated with chest-directed rad genome-wide association analysis NONHSAT024388.2 lncRNA Breast cancer 0.33 TGGGCAGCCC(C > T)GGGCTCATTG chr11: 117199645 0.9926,0.007388 0.98254332313965341,0.01745667686034658 Region score:0.29; TSS score:0.3; Unmatched score:0.87; Average GERP:-1.8006495049504947 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000045484; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PCSK7; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000160613; TranscriptID:ENST00000320934; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SIDT2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000149577; TranscriptID:ENST00000324225; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TAGLN; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000149591; TranscriptID:ENST00000532870; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002596 29141248 HOTAIR rs920778 T Dominant 482 hepatocellular carcinoma cases and 520 control subjects in a chinese population EFO_0000182 N/A increasing risk hepatocellular carcinoma rs920778-T of HOTAIR and its dysfunction is significantly associated with the increasing risk of Hepatocellular carcinoma by using case-control analysis in 482 hepatocellular carcinoma cases and 520 control subjects in a chinese population 0.9 Association of Functional Genetic Variants of HOTAIR with Hepatocellular Carcinoma (HCC) Susceptibility in a Chinese Population. case-control analysis HOTAIR lncRNA Hepatocellular carcinoma 0.593 TGAATGTTAC(G > A)GTTTCCTTCA chr12: 53966448 0.4401,0.5599 0.43194922273190621,0.56805077726809378 Region score:0.25; TSS score:0.53; Unmatched score:0.76; Average GERP:2.310435643564358 GeneName:AC012531.4; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000274817; TranscriptID:ENST00000616509; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC012531.5; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277129; TranscriptID:ENST00000611375; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOTAIR; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000228630; TranscriptID:ENST00000424518; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000458643; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01905; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000275589; TranscriptID:ENST00000611210; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01906; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000277994; TranscriptID:ENST00000611352; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002597 27718165 MIR499 rs3746444 G N/a 267 crohn隆炉s disease patients and 298 matched healthy controls EFO_0000384 N/A No significance for risk Crohn隆炉s disease rs3746444-G of MIR499 and its dysfunction is not significantly associated with Crohn隆炉s disease by using case-control analysis in 267 Crohn隆炉s disease patients and 298 matched healthy controls. -0.4 Polymorphisms in MIR122, MIR196A2, and MIR124A Genes are Associated with Clinical Phenotypes in Inflammatory Bowel Diseases. case-control analysis hsa-mir-499a miRNA Crohn's disease -0.33 CCACGTGAAC(A > G)TCACAGCAAG chr20: 34990448 0.8165,0.1835 0.81708715596330275,0.18291284403669724 Region score:0.79; TSS score:0.85; Unmatched score:0.95; Average GERP:3.757564356435645 GeneName:MIR499A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207635; TranscriptID:ENST00000384903; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR499B; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283441; TranscriptID:ENST00000636498; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYH7B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000078814; TranscriptID:ENST00000262873; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002598 29059683 NONHSAT213710.1 rs35522438 AT N/A 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls EFO_0000305 N/A Associate Breast cancer rs35522438-AT of NONHSAT213710.1 is significantly associated with the breast cancer by using GWAS analysis in 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls(p-value = 1E-9 ;OR = 0.0389). 0.4 Association analysis identifies 65 new breast cancer risk loci. genome-wide association analysis NONHSAT213710.1 lncRNA Breast cancer 0.33 TTGAGAGGCG(A > AT)TAGAGTAATT chr7: 92243558 0.6536,0.3464 0.60402331804281345,0.39597668195718654 N/A GeneName:AC000120.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000285953; TranscriptID:ENST00000650585; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ANKIB1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000001629; TranscriptID:ENST00000265742; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:KRIT1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000001631; TranscriptID:ENST00000394507; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002599 27863252 NONHSAT175429.1 rs56378716 G N/A 169,219 european ancestry individuals EFO_0007988 N/A Associate Myeloid white cell count rs56378716-G of NONHSAT175429.1 is significantly associated with the myeloid white cell count by using GWAS analysis in 169,219 european ancestry individuals(p-value = 4E-17 ;OR = 0.1350727). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT175429.1 lncRNA Myeloid white cell count 0.33 TTGCATGAAC(A > G)TGAGTGAGCG chr17: 58279141 0.9952,0.004792 0.99255383537206931,0.00744616462793068 Region score:0.5; TSS score:0.49; Unmatched score:0.76; Average GERP:2.4658316831683167 GeneName:MPO; CADD-Score:7; Consquence:missense; GeneID:ENSG00000005381; TranscriptID:ENST00000225275; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000559774; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002600 28453575 NONHSAT139199.2 rs1050828 T N/A 12,502 hispanic/latino individuals; 4,772 hispanic/latino individuals EFO_0005192 N/A Associate Red cell distribution width rs1050828-T of NONHSAT139199.2 is significantly associated with the red cell distribution width by using GWAS analysis in 12,502 hispanic/latino individuals; 4,772 hispanic/latino individuals(p-value = 4E-29 ;OR = 0.04). 0.4 Genome-wide association study of red blood cell traits in Hispanics/Latinos: The Hispanic Community Health Study/Study of Latinos. genome-wide association analysis NONHSAT139199.2 lncRNA Red blood cell distribution width 0.451 GCATAGCCCA(C > T)GATGAAGGTG chrX: 154536002 0.9624,0.03762 0.96296030835881753,0.03703969164118246 Region score:0.58; TSS score:0.29; Unmatched score:0.65; Average GERP:2.551158415841584 GeneName:G6PD; CADD-Score:7; Consquence:missense; GeneID:ENSG00000160211; TranscriptID:ENST00000621232; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002600 23446634 NONHSAT139199.2 rs1050828 T N/A up to 16,485 african american individuals; 9,692 african american individuals//21,020 european ancestry individuals//14,088 japanese ancestry individuals EFO_0005192 N/A Associate Red blood cell traits rs1050828-T of NONHSAT139199.2 is significantly associated with the red blood cell traits by using GWAS analysis in up to 16,485 african american individuals; 9,692 african american individuals//21,020 european ancestry individuals//14,088 japanese ancestry individuals(p-value = 2E-11 ;OR = 0.0326). 0.4 Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network. genome-wide association analysis NONHSAT139199.2 lncRNA Red blood cell distribution width 0.451 GCATAGCCCA(C > T)GATGAAGGTG chrX: 154536002 0.9624,0.03762 0.96296030835881753,0.03703969164118246 Region score:0.58; TSS score:0.29; Unmatched score:0.65; Average GERP:2.551158415841584 GeneName:G6PD; CADD-Score:7; Consquence:missense; GeneID:ENSG00000160211; TranscriptID:ENST00000621232; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002601 25224557 19p13 rs3787016 A Dominant 1015 ethnic han chinese patients with prostate cancer and 1032 cancer-free controls EFO_0001663 N/A Increasing risk Prostate cancer rs3787016-A of 19p13 and its dysfunction is significantly associated with the increasing risk of prostate cancer by using case-control analysis in 1015 ethnic Han Chinese patients with prostate cancer and 1032 cancer-free controls. 0.4 Polymorphisms at long non-coding RNAs and prostate cancer risk in an eastern Chinese population. case-control analysis 19p13 Noncoding region Prostate cancer 0.33 ATGCACTAAT(A > G)GGAACACCTG chr19: 1090804 0.266,0.734 0.23195400101936799,0.76804599898063200 Region score:0.21; TSS score:0.14; Unmatched score:0.16; Average GERP:-1.0606237623762376 GeneName:ARHGAP45; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180448; TranscriptID:ENST00000539243; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:POLR2E; CADD-Score:2; Consquence:intron; GeneID:ENSG00000099817; TranscriptID:ENST00000615234; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002602 22778062 SNORA46 rs75536385 A N/A N/A function N/A not significant changes in the structure function rs75536385-A of SNORA46 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in nan -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORA46 snoRNA function -0.049 TGTTCCTTAA(C > T)TCTATACAGC chr16: 58548512 0.9934,0.006589 0.99793737257900101,0.00206262742099898 Region score:0.6; TSS score:0.36; Unmatched score:0.58; Average GERP:1.375306930693069 GeneName:CNOT1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000125107; TranscriptID:ENST00000317147; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000086586; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORA46; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207493; TranscriptID:ENST00000384762; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002603 21348951 NONHSAT195422.1 rs3729931 ? N/A 851 old order amish individuals EFO_0002503 N/A Associate Cardiac hypertrophy rs3729931-? of NONHSAT195422.1 is significantly associated with the cardiac hypertrophy by using GWAS analysis in 851 old order amish individuals(p-value = 7E-7 ;OR = ?). 0.4 Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality. genome-wide association analysis NONHSAT195422.1 lncRNA Cardiac hypertrophy 0.33 AATGGGGGGT(G > A)AATGAACAAC chr3: 12585017 0.6354,0.3646 0.57442182721712538,0.42557817278287461 Region score:0.26; TSS score:0.11; Unmatched score:0.32; Average GERP:-0.8576643564356434 GeneName:MKRN2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000075975; TranscriptID:ENST00000170447; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RAF1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000132155; TranscriptID:ENST00000251849; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002604 19122664 NONHSAT003779.2 rs11209026 ? N/A 1,022 european ancestry cases//2,503 european ancestry controls; 1,387 european ancestry cases//1,115 european ancestry controls EFO_0000729 N/A Associate Ulcerative colitis rs11209026-? of NONHSAT003779.2 is significantly associated with the ulcerative colitis by using GWAS analysis in 1,022 european ancestry cases//2,503 european ancestry controls; 1,387 european ancestry cases//1,115 european ancestry controls(p-value = 1E-8 ;OR = 1.79). 0.4 Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study. genome-wide association analysis NONHSAT003779.2 lncRNA Ulcerative colitis 0.52 AGATCATTCC(G > A)AACTGGGTAG chr1: 67240275 0.9772,0.02276 0.95546636085626911,0.04453363914373088 Region score:0.42; TSS score:0.36; Unmatched score:0.6; Average GERP:1.6307445544554449 GeneName:IL23R; CADD-Score:7; Consquence:missense; GeneID:ENSG00000162594; TranscriptID:ENST00000347310; AnnoType:NON_SYNONYMOUS; mirSVR-Score:-1.3115; mirSVR-E:-14.41 | NCRV0000002604 21297633 NONHSAT003779.2 rs11209026 G N/A 6,687 european ancestry cases//19,718 european ancestry controls; 9,628 european ancestry cases//12,917 european ancestry controls EFO_0000729 N/A Associate Ulcerative colitis rs11209026-G of NONHSAT003779.2 is significantly associated with the ulcerative colitis by using GWAS analysis in 6,687 european ancestry cases//19,718 european ancestry controls; 9,628 european ancestry cases//12,917 european ancestry controls(p-value = 5E-28 ;OR = 1.74). 0.4 Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. genome-wide association analysis NONHSAT003779.2 lncRNA Ulcerative colitis 0.52 AGATCATTCC(G > A)AACTGGGTAG chr1: 67240275 0.9772,0.02276 0.95546636085626911,0.04453363914373088 Region score:0.42; TSS score:0.36; Unmatched score:0.6; Average GERP:1.6307445544554449 GeneName:IL23R; CADD-Score:7; Consquence:missense; GeneID:ENSG00000162594; TranscriptID:ENST00000347310; AnnoType:NON_SYNONYMOUS; mirSVR-Score:-1.3115; mirSVR-E:-14.41 | NCRV0000002604 19915572 NONHSAT003779.2 rs11209026 ? N/A 2,361 european ancestry cases//5,417 european ancestry controls; 2,321 european ancestry cases//4,818 european ancestry controls EFO_0000729 N/A Associate Ulcerative colitis rs11209026-? of NONHSAT003779.2 is significantly associated with the ulcerative colitis by using GWAS analysis in 2,361 european ancestry cases//5,417 european ancestry controls; 2,321 european ancestry cases//4,818 european ancestry controls(p-value = 3E-10 ;OR = ?). 0.4 Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region. genome-wide association analysis NONHSAT003779.2 lncRNA Ulcerative colitis 0.52 AGATCATTCC(G > A)AACTGGGTAG chr1: 67240275 0.9772,0.02276 0.95546636085626911,0.04453363914373088 Region score:0.42; TSS score:0.36; Unmatched score:0.6; Average GERP:1.6307445544554449 GeneName:IL23R; CADD-Score:7; Consquence:missense; GeneID:ENSG00000162594; TranscriptID:ENST00000347310; AnnoType:NON_SYNONYMOUS; mirSVR-Score:-1.3115; mirSVR-E:-14.41 | NCRV0000002605 27182965 NONHSAT209157.1 rs227808 ? N/A 9,009 european ancestry cases//8,491 european ancestry controls EFO_0004191 N/A Associate Male-pattern baldness rs227808-? of NONHSAT209157.1 is significantly associated with the male-pattern baldness by using GWAS analysis in 9,009 european ancestry cases//8,491 european ancestry controls(p-value = 3E-9 ;OR = 1.1820331). 0.4 Detection and interpretation of shared genetic influences on 42 human traits. genome-wide association analysis NONHSAT209157.1 lncRNA Androgenetic alopecia 0.33 GCTCTAGATG(T > C)TTTGGAGAGT chr6: 44699178 0.1769,0.8231 0.16209543832823649,0.83790456167176350 Region score:0.44; TSS score:0.38; Unmatched score:0.15; Average GERP:0.35178613861386143 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000197371; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002606 19483685 NONHSAT093877.2 rs10937275 ? N/A 58 european ancestry cases//282 european ancestry controls EFO_0004228 N/A Associate Drug-induced liver injury (flucloxacillin) rs10937275-? of NONHSAT093877.2 is significantly associated with the drug-induced liver injury (flucloxacillin) by using GWAS analysis in 58 european ancestry cases//282 european ancestry controls(p-value = 1E-8 ;OR = 4.1). 0.4 HLA-B*5701 genotype is a major determinant of drug-induced liver injury due to flucloxacillin. genome-wide association analysis NONHSAT093877.2 lncRNA Drug-induced liver injury 0.33 AGATAGGGTC(A > G)GGTACCCGGT chr3: 186933001 0.07009,0.9299 0.11163672273190621,0.88836327726809378 Region score:0.22; TSS score:0.32; Unmatched score:0.86; Average GERP:0.06318811881188119 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000711775; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ST6GAL1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000073849; TranscriptID:ENST00000169298; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002607 27328823 mir-149 rs2292832 C N/A 17,008 AD cases and 37,154 controls EFO_0000249 N/A decreasing risk Alzheimer's disease rs2292832-C of hsa-mir-149 and its dysfunction is significantly associated with the decreasing risk of Alzheimers disease by using case-control analysis in 17,008 AD cases and 37,154 controls 0.4 Genome-wide identification of microRNA-related variants associated with risk of Alzheimer's disease. case-control analysis hsa-mir-149 miRNA Alzheimers disease 0.33 CTGGGGCAGC(T > A,C)GGAACAACGC chr2: 240456086 0.3866,.,0.6134 0.31987449031600407,0.00025484199796126,0.67987066768603465 Region score:0.3; TSS score:0.39; Unmatched score:0.89; Average GERP:1.5002722772277222 GeneName:AC110619.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000218416; TranscriptID:ENST00000404891; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GPC1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000063660; TranscriptID:ENST00000264039; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR149; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207611; TranscriptID:ENST00000384879; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000133146; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002608 22832961 NONHSAT215384.1 rs3748140 ? N/A 1,291 european ancestry cases//938 european ancestry controls; 509 european ancestry cases//753 european ancestry controls//2,218 cases//2,583 controls EFO_0000249 N/A Associate Alzheimer's disease rs3748140-? of NONHSAT215384.1 is significantly associated with the alzheimer's disease by using GWAS analysis in 1,291 european ancestry cases//938 european ancestry controls; 509 european ancestry cases//753 european ancestry controls//2,218 cases//2,583 controls(p-value = 3E-7 ;OR = 2.43). 0.4 Genome-wide association study of Alzheimer's disease. genome-wide association analysis NONHSAT215384.1 lncRNA Alzheimers disease 0.33 GGCCACCATT(C > T)CACTGGCTTC chr8: 9141509 0.9385,0.0615 0.97726331549439347,0.02273668450560652 Region score:0.54; TSS score:0.32; Unmatched score:0.6; Average GERP:2.6372574257425736 GeneName:AC022784.5; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000254340; TranscriptID:ENST00000520017; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PPP1R3B; CADD-Score:7; Consquence:missense; GeneID:ENSG00000173281; TranscriptID:ENST00000310455; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002609 25233373 NONHSAT034948.2 rs1347190 ? N/A 7,068 european ancestry cases//6,844 european ancestry controls; 1,554 european ancestry cases//892 cases//1,654 european ancestry controls//2,921 controls HP_0000540 N/A Associate Hyperopia rs1347190-? of NONHSAT034948.2 is significantly associated with the hyperopia by using GWAS analysis in 7,068 european ancestry cases//6,844 european ancestry controls; 1,554 european ancestry cases//892 cases//1,654 european ancestry controls//2,921 controls(p-value = 7E-6 ;OR = ?). 0.4 Genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 loci. genome-wide association analysis NONHSAT034948.2 lncRNA Hypermetropia 0.33 TTTTAAGAGA(A > G,T)CACTTTCAAG chr13: 99995845 0.738,0.262,. 0.64095948012232415,0.35892106269113149,0.00011945718654434 Region score:0.36; TSS score:0.67; Unmatched score:0.65; Average GERP:1.9003009900990095 GeneName:LINC00554; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000260738; TranscriptID:ENST00000564841; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000488944; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002610 25961943 NONHSAT107886.2 rs3757354 C N/A up 62,166 european ancestry individuals EFO_0000319 N/A Associate Ldl cholesterol rs3757354-C of NONHSAT107886.2 is significantly associated with the ldl cholesterol by using GWAS analysis in up 62,166 european ancestry individuals(p-value = 2E-9 ;OR = 0.043). 0.4 The impact of low-frequency and rare variants on lipid levels. genome-wide association analysis NONHSAT107886.2 lncRNA Cardiovascular disease 0.565 GAAATAAAGG(C > T)CACTAACAGA chr6: 16127176 0.6727,0.3273 0.72413353720693170,0.27586646279306829 Region score:0.39; TSS score:0.55; Unmatched score:0.61; Average GERP:-0.6705376237623764 GeneName:MYLIP; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000007944; TranscriptID:ENST00000356840; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000784314; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002610 20686565 NONHSAT107886.2 rs3757354 T N/A 100,184 european ancestry individuals EFO_0000319 N/A Associate Cholesterol//total rs3757354-T of NONHSAT107886.2 is significantly associated with the cholesterol//total by using GWAS analysis in 100,184 european ancestry individuals(p-value = 3E-9 ;OR = 1.46). 0.4 Biological, clinical and population relevance of 95 loci for blood lipids. genome-wide association analysis NONHSAT107886.2 lncRNA Cardiovascular disease 0.565 GAAATAAAGG(C > T)CACTAACAGA chr6: 16127176 0.6727,0.3273 0.72413353720693170,0.27586646279306829 Region score:0.39; TSS score:0.55; Unmatched score:0.61; Average GERP:-0.6705376237623764 GeneName:MYLIP; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000007944; TranscriptID:ENST00000356840; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000784314; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002610 24097068 NONHSAT107886.2 rs3757354 T N/A 94,595 european ancestry individuals; 93,982 european ancestry individuals EFO_0000319 N/A Associate Cholesterol//total rs3757354-T of NONHSAT107886.2 is significantly associated with the cholesterol//total by using GWAS analysis in 94,595 european ancestry individuals; 93,982 european ancestry individuals(p-value = 2E-15 ;OR = 0.035). 0.4 Discovery and refinement of loci associated with lipid levels. genome-wide association analysis NONHSAT107886.2 lncRNA Cardiovascular disease 0.565 GAAATAAAGG(C > T)CACTAACAGA chr6: 16127176 0.6727,0.3273 0.72413353720693170,0.27586646279306829 Region score:0.39; TSS score:0.55; Unmatched score:0.61; Average GERP:-0.6705376237623764 GeneName:MYLIP; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000007944; TranscriptID:ENST00000356840; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000784314; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002610 28334899 NONHSAT107886.2 rs3757354 T N/A 32,576 east asian ancestry individuals//187,365 european ancestry individuals; 10,855 chinese ancestry individuals EFO_0000319 N/A Associate Total cholesterol levels rs3757354-T of NONHSAT107886.2 is significantly associated with the total cholesterol levels by using GWAS analysis in 32,576 east asian ancestry individuals//187,365 european ancestry individuals; 10,855 chinese ancestry individuals(p-value = 8E-13 ;OR = 0.0348). 0.4 Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels. genome-wide association analysis NONHSAT107886.2 lncRNA Cardiovascular disease 0.565 GAAATAAAGG(C > T)CACTAACAGA chr6: 16127176 0.6727,0.3273 0.72413353720693170,0.27586646279306829 Region score:0.39; TSS score:0.55; Unmatched score:0.61; Average GERP:-0.6705376237623764 GeneName:MYLIP; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000007944; TranscriptID:ENST00000356840; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000784314; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002611 28397307 pre-miR-122/miR-3591 rs41292412 T Dominant 16,144 advanced AMD cases and 17,832 controls EFO_0001365 N/A increasing risk age-related macular degeneration rs41292412-T of hsa-mir-122 and its dysfunction is significantly associated with the increasing risk of Age-related macular degeneration by using case-control analysis in 16,144 advanced AMD cases and 17,832 controls 0.9 Genetic variants in microRNAs and their binding sites within gene 3'UTRs associate with susceptibility to age-related macular degeneration. case-control analysis hsa-mir-122 miRNA Age-related macular degeneration 0.593 AACTATCAAA(C > T)GCCATTATCA chr18: 58451126 0.997,0.002995 0.99324668705402650,0.00675331294597349 Region score:0.69; TSS score:0.53; Unmatched score:0.55; Average GERP:3.8497643564356383 GeneName:MIR122; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000284440; TranscriptID:ENST00000385044; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR122HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000267391; TranscriptID:ENST00000590797; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3591; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207778; TranscriptID:ENST00000636727; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002612 22778062 SNORA11B rs76554363 C N/A N/A function N/A not significant changes in the structure function rs76554363-C of SNORA11B and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in nan -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORA11B snoRNA function -0.049 ATGTGTTGGG(G > C)TGTGCTCAGA chr14: 91126428 0.99,0.009984 0.98513952599388379,0.01486047400611620 Region score:0.36; TSS score:0.18; Unmatched score:0.43; Average GERP:0.34221485148514846 GeneName:DGLUCY; CADD-Score:2; Consquence:intron; GeneID:ENSG00000133943; TranscriptID:ENST00000518868; AnnoType:INTRONIC; mirSVR-Score:-0.0292; mirSVR-E:-12.07 | GeneName:SNORA11B; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000221102; TranscriptID:ENST00000408175; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0292; mirSVR-E:-12.07 | NCRV0000002613 26053186 NONHSAT185197.1 rs60866311 ? N/A 361 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//440 european ancestry current smoker individuals//452 latino current smoker individuals//702 japanese ancestry current smoker individuals EFO_0001071 in smokers Associate 3-hydroxy-1-methylpropylmercapturic acid levels in smokers rs60866311-? of NONHSAT185197.1 is significantly associated with the 3-hydroxy-1-methylpropylmercapturic acid levels in smokers by using GWAS analysis in 361 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//440 european ancestry current smoker individuals//452 latino current smoker individuals//702 japanese ancestry current smoker individuals(p-value = 9E-7 ;OR = 0.7469). 0.4 Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer. genome-wide association analysis NONHSAT185197.1 lncRNA Lung cancer 0.33 CCTCCACGGG(T > G)GTACGCTACA chr2: 100975599 0.882,0.118 0.92624713302752293,0.07375286697247706 Region score:0.37; TSS score:0.11; Unmatched score:0.51; Average GERP:-0.7893623762376237 GeneName:AC016738.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000230140; TranscriptID:ENST00000439150; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NPAS2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000170485; TranscriptID:ENST00000335681; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002614 28739976 NONHSAT108210.2 rs1799945 G N/A 150,134 european ancestry individuals; 87,359 european ancestry individuals//140,886 european and unknown ancestry individuals EFO_0000319 N/A Associate Systolic blood pressure rs1799945-G of NONHSAT108210.2 is significantly associated with the systolic blood pressure by using GWAS analysis in 150,134 european ancestry individuals; 87,359 european ancestry individuals//140,886 european and unknown ancestry individuals(p-value = 8E-10 ;OR = 0.627). 0.4 Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.LID - HYPERTENSIONAHA.117.09438 [pii]LID - 10.1161/HYPERTENSIONAHA.117.09438 [doi]AB - Elevated blood pressure genome-wide association analysis NONHSAT108210.2 lncRNA Cardiovascular disease 0.451 GTTCTATGAT(C > G)ATGAGAGTCG chr6: 26090951 0.9269,0.07308 0.89884365443425076,0.10115634556574923 Region score:0.3; TSS score:0.25; Unmatched score:0.49; Average GERP:0.6539455445544557 GeneName:HFE; CADD-Score:7; Consquence:missense; GeneID:ENSG00000010704; TranscriptID:ENST00000357618; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002614 21909115 NONHSAT108210.2 rs1799945 G N/A 69,395 european ancestry individuals; up to 133,361 european ancestry individuals EFO_0000319 N/A Associate Systolic blood pressure rs1799945-G of NONHSAT108210.2 is significantly associated with the systolic blood pressure by using GWAS analysis in 69,395 european ancestry individuals; up to 133,361 european ancestry individuals(p-value = 8E-12 ;OR = 0.627). 0.4 Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. genome-wide association analysis NONHSAT108210.2 lncRNA Cardiovascular disease 0.451 GTTCTATGAT(C > G)ATGAGAGTCG chr6: 26090951 0.9269,0.07308 0.89884365443425076,0.10115634556574923 Region score:0.3; TSS score:0.25; Unmatched score:0.49; Average GERP:0.6539455445544557 GeneName:HFE; CADD-Score:7; Consquence:missense; GeneID:ENSG00000010704; TranscriptID:ENST00000357618; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002615 27741504 miR-100 rs1834306 A Recessive 218 endometriosis patients and 202 healthy women age-matched controls EFO_0001065 N/A Increasing risk Endometriosis rs1834306-A of miR-100 and its dysfunction is significantly associated with the increasing risk of endometriosis by using case-control analysis in 218 endometriosis patients and 202 healthy women age-matched controls. 0.4 Up-regulation of ribosome biogenesis by MIR196A2 genetic variation promotes endometriosis development and progression. case-control analysis hsa-mir-100 miRNA Endometriosis 0.33 GTTCTCCCCA(A > G)CGTGCTTCCC chr11: 122152479 0.5471,0.4529 0.52398700305810397,0.47601299694189602 Region score:0.42; TSS score:0.47; Unmatched score:0.58; Average GERP:-2.193261089108911 GeneName:MIR100; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207994; TranscriptID:ENST00000385259; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR100HG; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000255248; TranscriptID:ENST00000534782; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002616 29930469 HOTTIP rs3807598 C N/A 521 hepatocellular cancer patients and frequency-matched 817 controls EFO_0000182 N/A decreasing risk hepatocellular carcinoma rs3807598-C of HOTTIP and its dysfunction is significantly associated with the decreasing risk of Hepatocellular carcinoma by using case-control analysis in 521 hepatocellular cancer patients and frequency-matched 817 controls 0.4 Association of twelve polymorphisms in three onco-lncRNA genes with hepatocellular cancer risk and prognosis: A case-control study. case-control analysis HOTTIP lncRNA Hepatocellular carcinoma 0.33 CATTTAGACC(C > G)ATAGACTCAG chr7: 27200863 0.6649,0.3351 0.65099388379204892,0.34900611620795107 Region score:0.31; TSS score:0.51; Unmatched score:0.89; Average GERP:0.10934653465346526 GeneName:HOTTIP; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000243766; TranscriptID:ENST00000521028; AnnoType:UPSTREAM; mirSVR-Score:-0.3488; mirSVR-E:-11.39 | GeneName:HOXA13; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000106031; TranscriptID:ENST00000222753; AnnoType:UPSTREAM; mirSVR-Score:-0.3488; mirSVR-E:-11.39 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000209863; AnnoType:REGULATORY; mirSVR-Score:-0.3488; mirSVR-E:-11.39 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000819856; AnnoType:REGULATORY; mirSVR-Score:-0.3488; mirSVR-E:-11.39 | GeneName:RF02040; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000276609; TranscriptID:ENST00000620415; AnnoType:DOWNSTREAM; mirSVR-Score:-0.3488; mirSVR-E:-11.39 | GeneName:RF02041; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000278708; TranscriptID:ENST00000616633; AnnoType:UPSTREAM; mirSVR-Score:-0.3488; mirSVR-E:-11.39 | GeneName:RF02042; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277469; TranscriptID:ENST00000619957; AnnoType:UPSTREAM; mirSVR-Score:-0.3488; mirSVR-E:-11.39 | NCRV0000002617 27286809 NONHSAT149348.1 rs469772 T N/A 65,000 individuals (c-reactive protein)//100,184 individuals (total cholesterol) EFO_0000195 N/A Associate C-reactive protein levels or total cholesterol levels (pleiotropy) rs469772-T of NONHSAT149348.1 is significantly associated with the c-reactive protein levels or total cholesterol levels (pleiotropy) by using GWAS analysis in 65,000 individuals (c-reactive protein)//100,184 individuals (total cholesterol)(p-value = 2E-8 ;OR = ?). 0.4 Bivariate genome-wide association study identifies novel pleiotropic loci for lipids and inflammation. genome-wide association analysis NONHSAT149348.1 lncRNA Metabolic syndrome 0.33 GTTGTAATTA(C > T)CCTGTACCTG chr1: 91064748 0.8464,0.1536 0.81452280835881753,0.18547719164118246 Region score:0.31; TSS score:0.12; Unmatched score:0.03; Average GERP:-0.16409204752475248 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002618 24554482 NONHSAT034710.2 rs7985891 ? N/A 19 european ancestry cases//30 african american cases//9 hispanic cases//85 european ancestry controls//49 african american controls//30 hispanic controls EFO_0000180 N/A Associate Response to anti-retroviral therapy (ddi/d4t) in hiv-1 infection (grade 2 peripheral neuropathy) rs7985891-? of NONHSAT034710.2 is significantly associated with the response to anti-retroviral therapy (ddi/d4t) in hiv-1 infection (grade 2 peripheral neuropathy) by using GWAS analysis in 19 european ancestry cases//30 african american cases//9 hispanic cases//85 european ancestry controls//49 african american controls//30 hispanic controls(p-value = 2E-7 ;OR = 38.2). 0.4 Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384. genome-wide association analysis NONHSAT034710.2 lncRNA Hiv-1 infection 0.33 TCGGCTGTGC(A > G)ATGTGTAGCA chr13: 93226778 0.9555,0.04453 0.96135161824668705,0.03864838175331294 Region score:0.55; TSS score:0.55; Unmatched score:0.96; Average GERP:3.179250495049505 GeneName:AL354811.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000278177; TranscriptID:ENST00000610286; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GPC6; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000183098; TranscriptID:ENST00000377047; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000064481; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002619 22778062 SNORD115-8 rs72546375 G N/a N/a function N/A Not significant changes in the structure Function rs72546375-G of SNORD115-8 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD115-8 snoRNA Function -0.049 AGAACCTTAC(A > G)TTGTTCTGAA chr15: 25184328 N/A RS=72546375;RSPOS=25184328;dbSNPBuildID=130;SSR=0;SAO=0;VP=0x0500000a0005040002000100;GENEINFO=SNORD115-8:100033445|SNHG14:104472715|SNORD115-9:100033446;WGT=1;VC=SNV;INT;R5;ASP;VLD Region score:0.38; TSS score:0.08; Unmatched score:0.45; Average GERP:0.21953069306930692 GeneName:SNHG14; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000224078; TranscriptID:ENST00000414175; AnnoType:UPSTREAM; mirSVR-Score:-0.3515; mirSVR-E:-21.53 | GeneName:SNORD115-10; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000201943; TranscriptID:ENST00000365073; AnnoType:UPSTREAM; mirSVR-Score:-0.3515; mirSVR-E:-21.53 | GeneName:SNORD115-6; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000200812; TranscriptID:ENST00000363942; AnnoType:DOWNSTREAM; mirSVR-Score:-0.3515; mirSVR-E:-21.53 | GeneName:SNORD115-7; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000278089; TranscriptID:ENST00000365306; AnnoType:DOWNSTREAM; mirSVR-Score:-0.3515; mirSVR-E:-21.53 | GeneName:SNORD115-8; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000200726; TranscriptID:ENST00000363856; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.3515; mirSVR-E:-21.53 | GeneName:SNORD115-9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000199782; TranscriptID:ENST00000362912; AnnoType:UPSTREAM; mirSVR-Score:-0.3515; mirSVR-E:-21.53 | NCRV0000002620 22412388 NONHSAT143201.2 rs11574514 A N/A 737 ashkenazi jewish cases//2,257 ashkenazi jewish controls; 971 ashkenazi jewish cases//2,124 ashkenazi jewish controls EFO_0000384 N/A Associate Crohn's disease rs11574514-A of NONHSAT143201.2 is significantly associated with the crohn's disease by using GWAS analysis in 737 ashkenazi jewish cases//2,257 ashkenazi jewish controls; 971 ashkenazi jewish cases//2,124 ashkenazi jewish controls(p-value = 2E-7 ;OR = 1.44). 0.4 A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci. genome-wide association analysis NONHSAT143201.2 lncRNA Crohn's disease 0.33 GGACATTGCA(C > T)TGGCCTCCCT chr16: 67937477 0.9852,0.01478 0.97141787716615698,0.02858212283384301 Region score:0.41; TSS score:0.51; Unmatched score:0.79; Average GERP:-0.3885906 GeneName:AC040162.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000261884; TranscriptID:ENST00000573493; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LCAT; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000213398; TranscriptID:ENST00000264005; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000087202; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PSMB10; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000205220; TranscriptID:ENST00000358514; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002621 28604730 NONHSAT219406.1 rs10758203 G N/A 11,273 european ancestry cases// 55,483 european ancestry controls EFO_0000571 N/A Associate Lung adenocarcinoma rs10758203-G of NONHSAT219406.1 is significantly associated with the lung adenocarcinoma by using GWAS analysis in 11,273 european ancestry cases// 55,483 european ancestry controls(p-value = 9E-7 ;OR = 1.0911608). 0.4 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. genome-wide association analysis NONHSAT219406.1 lncRNA Lung adenocancer 0.33 GGACATGGTA(G > A,C)CATGGGCATG chr9: 33421422 0.7378,0.2622,. 0.72204701834862385,0.27792112640163098,0.00003185524974515 Region score:0.14; TSS score:0.04; Unmatched score:0; Average GERP:0.08698019801980193 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002622 28240269 NONHSAT035599.2 rs11624221 C N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0008022 N/A Associate Blood protein levels rs11624221-C of NONHSAT035599.2 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 9E-14 ;OR = 0.3347). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. genome-wide association analysis NONHSAT035599.2 lncRNA Angiogenin measurement 0.33 ATGACTGGAA(G > C)GCTGCAAGGT chr14: 20659891 0.8161,0.1839 0.76384110601427115,0.23615889398572884 Region score:0.27; TSS score:0.41; Unmatched score:0.53; Average GERP:-0.09786138613861392 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000491973; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002623 28240269 NONHSAT108508.2 rs3131085 A N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0008233 N/A Associate Blood protein levels rs3131085-A of NONHSAT108508.2 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 1E-9 ;OR = 0.5111). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. genome-wide association analysis NONHSAT108508.2 lncRNA Mhc class i polypeptide-related sequence a measurement 0.33 AACCTGACAT(G > A)CTTGCTTGTG chr6: 29076924 0.9824,0.01757 0.94564698012232415,0.05435301987767584 Region score:0.39; TSS score:0.04; Unmatched score:0.33; Average GERP:0.17848514851485137 GeneName:AL662791.2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000277661; TranscriptID:ENST00000623334; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000787034; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:OR2P1P; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000236909; TranscriptID:ENST00000413771; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SAR1AP1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000228364; TranscriptID:ENST00000455287; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002624 26708285 NONHSAT101414.2 rs16880442 G N/A 2,165 saudi arab ancestry cases//2,266 saudi arab ancestry controls; 503 saudi arab ancestry cases//734 saudi arab ancestry controls EFO_0000378 N/A Associate Coronary artery disease rs16880442-G of NONHSAT101414.2 is significantly associated with the coronary artery disease by using GWAS analysis in 2,165 saudi arab ancestry cases//2,266 saudi arab ancestry controls; 503 saudi arab ancestry cases//734 saudi arab ancestry controls(p-value = 6E-7 ;OR = 1.3888888). 0.4 A genome-wide association study reveals susceptibility loci for myocardial infarction/coronary artery disease in Saudi Arabs. genome-wide association analysis NONHSAT101414.2 lncRNA Coronary artery disease 0.33 TGGAGGCCAA(G > A,T)ACTCTCCTTC chr5: 52889863 0.9175,.,0.08247 0.92185907237512742,0.00002389143730886,0.07811703618756371 Region score:0.18; TSS score:0.05; Unmatched score:0.34; Average GERP:-0.11120891089108906 GeneName:B3GNTL1P1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000251237; TranscriptID:ENST00000509174; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ITGA1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000213949; TranscriptID:ENST00000282588; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002625 27863252 NONHSAT090401.2 rs35592432 C N/A 171,643 european ancestry individuals EFO_0004587 N/A Associate Lymphocyte counts rs35592432-C of NONHSAT090401.2 is significantly associated with the lymphocyte counts by using GWAS analysis in 171,643 european ancestry individuals(p-value = 4E-20 ;OR = 0.1099726). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT090401.2 lncRNA Lymphocyte count 0.33 AAATATGCAG(G > C)AAGAGGCCCC chr3: 71306089 0.9916,0.008387 0.98203363914373088,0.01796636085626911 Region score:0.6; TSS score:0.63; Unmatched score:0.98; Average GERP:5.869405940594064 GeneName:AC097634.4; CADD-Score:2; Consquence:intron; GeneID:ENSG00000285708; TranscriptID:ENST00000647725; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:FOXP1-AS1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000244203; TranscriptID:ENST00000465742; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:FOXP1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000114861; TranscriptID:ENST00000615603; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000690571; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000690574; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002626 25241909 NONHSAT198812.1 rs2869967 C N/A up to 1,662 european ancestry cases//up to 3,520 european ancestry smoker controls//182 african american cases//1,749 african american smoker controls EFO_0006505 N/A Associate Chronic bronchitis and chronic obstructive pulmonary disease rs2869967-C of NONHSAT198812.1 is significantly associated with the chronic bronchitis and chronic obstructive pulmonary disease by using GWAS analysis in up to 1,662 european ancestry cases//up to 3,520 european ancestry smoker controls//182 african american cases//1,749 african american smoker controls(p-value = 6E-10 ;OR = 1.38). 0.4 Genetic susceptibility for chronic bronchitis in chronic obstructive pulmonary disease. genome-wide association analysis NONHSAT198812.1 lncRNA Chronic bronchitis 0.33 CTGGAAGGGT(T > C)AAGGGATGTA chr4: 88948181 0.4996,0.5004 0.50852127930682976,0.49147872069317023 Region score:0.29; TSS score:0.36; Unmatched score:0.16; Average GERP:-0.015185148514851485 GeneName:FAM13A; CADD-Score:2; Consquence:intron; GeneID:ENSG00000138640; TranscriptID:ENST00000264344; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002627 29186694 NONHSAT167990.1 rs2252003 ? N/A 107,207 european ancestry individuals EFO_0008354 N/A Associate Cognitive ability rs2252003-? of NONHSAT167990.1 is significantly associated with the cognitive ability by using GWAS analysis in 107,207 european ancestry individuals(p-value = 2E-10 ;OR = 6.367). 0.4 Large-Scale Cognitive GWAS Meta-Analysis Reveals Tissue-Specific Neural Expression and Potential Nootropic Drug Targets. genome-wide association analysis NONHSAT167990.1 lncRNA Cognitive function measurement 0.33 AATCTCCTCT(C > T)GTTTGAGTAA chr13: 105983002 0.1807,0.8193 0.21045967125382262,0.78954032874617737 Region score:0.21; TSS score:0.24; Unmatched score:0.05; Average GERP:-0.9440158415841584 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002628 27713484 NEXN-AS1 rs114020893 C N/A 17,153 cases and 239,337 controls EFO_0001071 N/A increasing risk lung carcinoma rs114020893-C of NEXN-AS1 and its dysfunction is significantly associated with the increasing risk of Lung carcinoma by using meta-analysis in 17,153 cases and 239,337 controls 0.4 A Novel Genetic Variant in Long Non-coding RNA Gene NEXN-AS1 is Associated with Risk of Lung Cancer. meta-analysis NEXN-AS1 lncRNA Lung carcinoma 0.33 ACTTTCTTCT(T > C)CTTCTTCTTC chr1: 77887920 0.9161,0.08387 0.92842125382262996,0.07157874617737003 Region score:0.43; TSS score:0.44; Unmatched score:0.75; Average GERP:-1.1885928767123282 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000008754; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NEXN-AS1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000235927; TranscriptID:ENST00000421331; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NEXN; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000162614; TranscriptID:ENST00000334785; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002629 27342110 miR-196a2 rs11614913 T Dominant 230 cancer patients (including 17 types of cancer), 26 patients with pre-cancer lesions, and 100 unrelated controls. EFO_0002892 N/A Increasing risk Thyroid cancer rs11614913-T of miR-196a2 and its dysfunction is significantly associated with the increasing risk of thyroid cancer by using case-control analysis in 230 cancer patients (including 17 types of cancer), 26 patients with pre-cancer lesions, and 100 unrelated controls. . 0.4 MicroRNA-196a2 Biomarker and Targetome Network Analysis in Solid Tumors. case-control analysis hsa-mir-196a-2 miRNA Thyroid cancer 0.33 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002630 26053186 NONHSAT218148.1 rs77583023 ? N/A 362 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//438 european ancestry current smoker individuals//449 latino current smoker individuals//704 japanese ancestry current smoker individuals EFO_0001071 in smokers Associate 3-hydroxypropylmercapturic acid levels in smokers rs77583023-? of NONHSAT218148.1 is significantly associated with the 3-hydroxypropylmercapturic acid levels in smokers by using GWAS analysis in 362 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//438 european ancestry current smoker individuals//449 latino current smoker individuals//704 japanese ancestry current smoker individuals(p-value = 1E-6 ;OR = 1.125). 0.4 Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer. genome-wide association analysis NONHSAT218148.1 lncRNA Lung cancer 0.33 AAGGATGGAG(G > A,T)CCCCCACAGC chr8: 46035004 0.985,0.01498,. 0.97020737767584097,0.02978465851172273,0.00000796381243628 Region score:0.47; TSS score:0.09; Unmatched score:0.1; Average GERP:0 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002631 20585627 NONHSAT221385.1 rs7866070 ? N/A 9,126 european ancestry individuals HP_0000483 N/A Associate Common traits (other) rs7866070-? of NONHSAT221385.1 is significantly associated with the common traits (other) by using GWAS analysis in 9,126 european ancestry individuals(p-value = 7E-7 ;OR = ?). 0.4 Web-based, participant-driven studies yield novel genetic associations for common traits. genome-wide association analysis NONHSAT221385.1 lncRNA Astigmatism 0.33 AGGCCAATGC(A > G)TCTCCTTCGG chr9: 129681820 0.5517,0.4483 0.60241462793068297,0.39758537206931702 Region score:0.32; TSS score:0.29; Unmatched score:0.23; Average GERP:-1.3315831683168318 GeneName:PRRX2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000167157; TranscriptID:ENST00000372469; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002632 22778062 SNORA29 rs3818298 G N/a N/a function N/A Not significant changes in the structure Function rs3818298-G of SNORA29 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORA29 snoRNA Function -0.049 CCCATAAGCA(T > C)AGCCACTAAA chr6: 159785684 0.7398,0.2602 0.80327790519877675,0.19672209480122324 Region score:0.49; TSS score:0.3; Unmatched score:0.67; Average GERP:3.5387821782178217 GeneName:MRPL18; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000112110; TranscriptID:ENST00000367034; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORA29; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000206910; TranscriptID:ENST00000384183; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TCP1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000120438; TranscriptID:ENST00000321394; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002633 28604730 NONHSAT068045.2 rs639436 G N/A 11,273 european ancestry cases// 55,483 european ancestry controls EFO_0000571 N/A Associate Lung adenocarcinoma rs639436-G of NONHSAT068045.2 is significantly associated with the lung adenocarcinoma by using GWAS analysis in 11,273 european ancestry cases// 55,483 european ancestry controls(p-value = 4E-6 ;OR = 1.1027007). 0.4 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. genome-wide association analysis NONHSAT068045.2 lncRNA Lung adenocancer 0.33 TGCAGCCTCA(A > G)GCAGGAAACC chr19: 55521344 0.2534,0.7466 0.21428230122324159,0.78571769877675840 Region score:0.28; TSS score:0.35; Unmatched score:0.24; Average GERP:-0.5389207920792081 GeneName:SSC5D; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000179954; TranscriptID:ENST00000389623; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002634 22179738 NONHSAT039509.2 rs2069590 ? N/A 20 han chinese ancestry male gout cases//42 han chinese ancestry male controls EFO_0004274 N/A Associate Gout rs2069590-? of NONHSAT039509.2 is significantly associated with the gout by using GWAS analysis in 20 han chinese ancestry male gout cases//42 han chinese ancestry male controls(p-value = 1E-7 ;OR = ?). 0.4 Gout and type 2 diabetes have a mutual inter-dependent effect on genetic risk factors and higher incidences. genome-wide association analysis NONHSAT039509.2 lncRNA Gout 0.33 GTGAGGCATC(A > T)TTACGCAGAC chr14: 96242445 0.6987,0.3013 0.72163290010193679,0.27836709989806320 Region score:0.23; TSS score:0.46; Unmatched score:0.58; Average GERP:-0.8272800396039603 GeneName:AL355102.2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000258691; TranscriptID:ENST00000553811; AnnoType:INTRONIC; mirSVR-Score:-0.1077; mirSVR-E:-16.73 | GeneName:BDKRB2; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000168398; TranscriptID:ENST00000554311; AnnoType:3PRIME_UTR; mirSVR-Score:-0.1077; mirSVR-E:-16.73 | NCRV0000002635 27863252 NONHSAT197523.1 rs6782228 C N/A 170,384 european ancestry individuals EFO_0009390 N/A Associate Sum neutrophil eosinophil counts rs6782228-C of NONHSAT197523.1 is significantly associated with the sum neutrophil eosinophil counts by using GWAS analysis in 170,384 european ancestry individuals(p-value = 9E-15 ;OR = 0.03159961). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT197523.1 lncRNA Sum of neutrophil and eosinophil counts 0.33 AGCCAGGCAG(G > C)ACTGGACTTG chr3: 128604581 0.6859,0.3141 0.71094546381243628,0.28905453618756371 Region score:0.25; TSS score:0.41; Unmatched score:0.29; Average GERP:-0.473041287128713 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000700244; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002636 28240269 NONHSAT198706.1 rs16850073 T N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0008059 N/A Associate Blood protein levels rs16850073-T of NONHSAT198706.1 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 1E-97 ;OR = 0.8877). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. genome-wide association analysis NONHSAT198706.1 lncRNA C-x-c motif chemokine 6 measurement 0.33 TGGTTTTAGA(C > T)GTTTGATGTC chr4: 73838282 0.7562,0.2438 0.70997387869520897,0.29002612130479102 Region score:0.41; TSS score:0.67; Unmatched score:0.76; Average GERP:1.8884217821782174 GeneName:CXCL6; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000124875; TranscriptID:ENST00000226317; AnnoType:3PRIME_UTR; mirSVR-Score:-0.9039; mirSVR-E:-14.05 | NCRV0000002637 25802187 NONHSAT188818.1 rs1883832 T N/A 2,514 chinese ancestry cases//1,130 chinese ancestry controls; 6,600 chinese ancestry cases//8,127 chinese ancestry controls EFO_0004239 N/A Associate Chronic hepatitis b infection rs1883832-T of NONHSAT188818.1 is significantly associated with the chronic hepatitis b infection by using GWAS analysis in 2,514 chinese ancestry cases//1,130 chinese ancestry controls; 6,600 chinese ancestry cases//8,127 chinese ancestry controls(p-value = 3E-15 ;OR = 1.19). 0.4 Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B. genome-wide association analysis NONHSAT188818.1 lncRNA Chronic hepatitis b infection 0.33 CTCACCTCGC(T > C)ATGGTTCGTC chr20: 46118343 0.2288,0.7712 0.20349133537206931,0.79650866462793068 Region score:0.78; TSS score:0.81; Unmatched score:0.99; Average GERP:-0.004952475247524633 GeneName:CD40; CADD-Score:3; Consquence:5_prime_UTR; GeneID:ENSG00000101017; TranscriptID:ENST00000372285; AnnoType:5PRIME_UTR; mirSVR-Score:-0.1441; mirSVR-E:-16.93 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000137758; AnnoType:REGULATORY; mirSVR-Score:-0.1441; mirSVR-E:-16.93 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000652418; AnnoType:REGULATORY; mirSVR-Score:-0.1441; mirSVR-E:-16.93 | NCRV0000002638 27863252 NONHSAT204881.1 rs61745454 G N/A 172,435 european ancestry individuals EFO_0004308 N/A Associate White blood cell count rs61745454-G of NONHSAT204881.1 is significantly associated with the white blood cell count by using GWAS analysis in 172,435 european ancestry individuals(p-value = 1E-10 ;OR = 0.05719418). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT204881.1 lncRNA Leukocyte count 0.33 TGAGGCCCGG(A > G)GGACTGTAGG chr5: 151187456 0.9679,0.03215 0.95879523445463812,0.04120476554536187 Region score:0.32; TSS score:0.27; Unmatched score:0.45; Average GERP:1.5961649999999998 GeneName:CCDC69; CADD-Score:7; Consquence:missense; GeneID:ENSG00000198624; TranscriptID:ENST00000355417; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002639 26297903 NONHSAT207130.1 rs3101942 ? N/A 706 european ancestry cases EFO_0000289 N/A Associate Manic episodes in bipolar disorder rs3101942-? of NONHSAT207130.1 is significantly associated with the manic episodes in bipolar disorder by using GWAS analysis in 706 european ancestry cases(p-value = 7E-6 ;OR = 1.733). 0.4 Genetics of long-term treatment outcome in bipolar disorder. genome-wide association analysis NONHSAT207130.1 lncRNA Bipolar disorder 0.33 GTCAAATTGC(G > A,C)TATCCCCATT chr6: 32902280 0.3157,0.6843,. 0.31173547400611620,0.68231555810397553,0.00594896788990825 Region score:0.24; TSS score:0.12; Unmatched score:0.04; Average GERP:-0.0045485148514851975 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002640 26394269 NONHSAT200243.1 rs1054037 T N/A 2,764 european ancestry cases//10,475 european ancestry controls; 3,716 european ancestry cases// 4,261 european ancestry controls EFO_1001486 N/A Associate Primary biliary cholangitis rs1054037-T of NONHSAT200243.1 is significantly associated with the primary biliary cholangitis by using GWAS analysis in 2,764 european ancestry cases//10,475 european ancestry controls; 3,716 european ancestry cases// 4,261 european ancestry controls(p-value = 8E-10 ;OR = 1.22). 0.4 International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways. genome-wide association analysis NONHSAT200243.1 lncRNA Primary biliary cirrhosis 0.33 CAGAAAAATA(C > A,T)CCATATACCT chr4: 102631552 0.4497,.,0.5503 0.42410486748216106,0.01709034148827726,0.55880479102956167 Region score:0.23; TSS score:0.3; Unmatched score:0.44; Average GERP:0.11224356435643572 GeneName:MANBA; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000109323; TranscriptID:ENST00000226578; AnnoType:3PRIME_UTR; mirSVR-Score:-1.0793; mirSVR-E:-11.13 | NCRV0000002641 26962152 NONHSAT165208.1 rs7135417 ? N/A 394 european american individuals with periodontal health//389 european american individuals with mild-moderate periodontitis//192 european american individuals with severe periodontitis EFO_0000649 N/A Associate Periodontal disease-related phenotypes rs7135417-? of NONHSAT165208.1 is significantly associated with the periodontal disease-related phenotypes by using GWAS analysis in 394 european american individuals with periodontal health//389 european american individuals with mild-moderate periodontitis//192 european american individuals with severe periodontitis(p-value = 1E-9 ;OR = 0.44). 0.4 Genome-wide association study of biologically informed periodontal complex traits offers novel insights into the genetic basis of periodontal disease. genome-wide association analysis NONHSAT165208.1 lncRNA Periodontitis 0.33 GGAATGAGCG(T > C)GGAGGGTGAA chr12: 127691690 0.04892,0.9511 0.05862958715596330,0.94137041284403669 Region score:0.41; TSS score:0.35; Unmatched score:0.04; Average GERP:-0.3869863366336632 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002642 28067908 NONHSAT183947.1 rs76527535 ? N/A 12,194 european and unknown ancestry cases//28,072 european and unknown ancestry controls EFO_0000384 N/A Associate Crohn's disease rs76527535-? of NONHSAT183947.1 is significantly associated with the crohn's disease by using GWAS analysis in 12,194 european and unknown ancestry cases//28,072 european and unknown ancestry controls(p-value = 5E-6 ;OR = ?). 0.4 Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease. genome-wide association analysis NONHSAT183947.1 lncRNA Crohn's disease 0.33 AGTCACCCCA(C > T)TCCCGCCCCT chr2: 241545286 N/A 0.79974197247706422,0.20025802752293577 Region score:0.43; TSS score:0.51; Unmatched score:0.55; Average GERP:-0.1794814851485148 GeneName:BOK-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000234235; TranscriptID:ENST00000434306; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002643 23449627 NONHSAT207103.1 rs7751505 C N/A up to 5,043 european ancestry males//up to 5,756 european ancestry females EFO_0001382 N/A Associate Pubertal anthropometrics rs7751505-C of NONHSAT207103.1 is significantly associated with the pubertal anthropometrics by using GWAS analysis in up to 5,043 european ancestry males//up to 5,756 european ancestry females(p-value = 4E-6 ;OR = 0.07). 0.4 Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity. genome-wide association analysis NONHSAT207103.1 lncRNA Puberty 0.33 TCGGGATGAA(A > C)CGTTGCCTGG chr6: 31392478 0.6681,0.3319 0.69153765290519877,0.30846234709480122 Region score:0.18; TSS score:0.21; Unmatched score:0.09; Average GERP:-0.38126930693069283 GeneName:AL645933.2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000272221; TranscriptID:ENST00000606743; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002644 27863252 NONHSAT219494.1 rs11446839 TG N/A 164,339 european ancestry individuals EFO_0007985 N/A Associate Plateletcrit rs11446839-TG of NONHSAT219494.1 is significantly associated with the plateletcrit by using GWAS analysis in 164,339 european ancestry individuals(p-value = 3E-16 ;OR = 0.02990532). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT219494.1 lncRNA Plateletcrit 0.33 ATTGTCAGAG(T > TG)GGCCTATGCG chr9: 38198231 0.499,0.501 0.52781759683995922,0.47218240316004077 N/A GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002645 19483685 NONHSAT221711.1 rs10812428 ? N/A 58 european ancestry cases//282 european ancestry controls EFO_0004228 N/A Associate Drug-induced liver injury (flucloxacillin) rs10812428-? of NONHSAT221711.1 is significantly associated with the drug-induced liver injury (flucloxacillin) by using GWAS analysis in 58 european ancestry cases//282 european ancestry controls(p-value = 1E-6 ;OR = 2.85). 0.4 HLA-B*5701 genotype is a major determinant of drug-induced liver injury due to flucloxacillin. genome-wide association analysis NONHSAT221711.1 lncRNA Drug-induced liver injury 0.33 GAAACAGTAA(C > T)CTGAGCTATG chr9: 26614849 0.6108,0.3892 0.59924503058103975,0.40075496941896024 Region score:0.31; TSS score:0.16; Unmatched score:0; Average GERP:-0.15345544554455431 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002646 29058716 NONHSAT182525.1 rs4849887 C N/A 14,135 european ancestry cases//58,126 european ancestry controls; 7,333 european ancestry cases//42,468 european ancestry controls EFO_1000650 N/A Associate Breast cancer (estrogen-receptor negative) rs4849887-C of NONHSAT182525.1 is significantly associated with the breast cancer (estrogen-receptor negative) by using GWAS analysis in 14,135 european ancestry cases//58,126 european ancestry controls; 7,333 european ancestry cases//42,468 european ancestry controls(p-value = 4E-9 ;OR = 1.1764705). 0.4 Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer. genome-wide association analysis NONHSAT182525.1 lncRNA Estrogen-receptor negative breast cancer 0.33 TCTGGCAATG(T > A,C)TGAAGCTTGA chr2: 120487546 0.2085,.,0.7915 0.16872929408766564,0.00562245158002038,0.82564825433231396 Region score:0.4; TSS score:0.27; Unmatched score:0.23; Average GERP:-1.9439574257425747 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002647 28346443 NONHSAT086659.2 rs2235573 G N/A 6,191 european ancestry cases//18,190 european ancestry controls. EFO_0000519 N/A Associate Glioblastoma rs2235573-G of NONHSAT086659.2 is significantly associated with the glioblastoma by using GWAS analysis in 6,191 european ancestry cases//18,190 european ancestry controls.(p-value = 2E-10 ;OR = 1.15). 0.4 Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors. genome-wide association analysis NONHSAT086659.2 lncRNA Glioblastoma multiforme 0.33 AGAGCTCCAG(G > A)AGGCGCGTGG chr22: 38081923 0.5647,0.4353 0.54237544597349643,0.45762455402650356 Region score:0.19; TSS score:0.37; Unmatched score:0.84; Average GERP:1.7560990099009899 GeneName:BAIAP2L2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000128298; TranscriptID:ENST00000381669; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SLC16A8; CADD-Score:5; Consquence:synonymous; GeneID:ENSG00000100156; TranscriptID:ENST00000320521; AnnoType:SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002648 21297633 NONHSAT191238.1 rs1297265 A N/A 6,687 european ancestry cases//19,718 european ancestry controls; 9,628 european ancestry cases//12,917 european ancestry controls EFO_0000729 N/A Associate Ulcerative colitis rs1297265-A of NONHSAT191238.1 is significantly associated with the ulcerative colitis by using GWAS analysis in 6,687 european ancestry cases//19,718 european ancestry controls; 9,628 european ancestry cases//12,917 european ancestry controls(p-value = 7E-13 ;OR = 1.11). 0.4 Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. genome-wide association analysis NONHSAT191238.1 lncRNA Ulcerative colitis 0.33 GCAGCAGAGC(A > G)GCTGGCATGG chr21: 15444732 0.6268,0.3732 0.56441927879714576,0.43558072120285423 Region score:0.45; TSS score:0.58; Unmatched score:0.32; Average GERP:-0.07354524752475242 GeneName:AJ009632.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000229425; TranscriptID:ENST00000634642; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002649 28203683 NONHSAT082287.2 rs111476780 A N/A 393 african american cases//4,941 african american controls.; nr EFO_0004286 N/A Associate Venous thromboembolism adjusted for sickle cell variant rs77121243-t rs111476780-A of NONHSAT082287.2 is significantly associated with the venous thromboembolism adjusted for sickle cell variant rs77121243-t by using GWAS analysis in 393 african american cases//4,941 african american controls.; nr(p-value = 3E-6 ;OR = 3.687). 0.4 Identification of unique venous thromboembolism-susceptibility variants in African-Americans. genome-wide association analysis NONHSAT082287.2 lncRNA Venous thromboembolism 0.33 GCCAAAAAGT(C > A,T)CAGGATGCCC chr21: 41775892 0.9962,0.003794,. 0.99605791284403669,0.00392615953109072,0.00001592762487257 Region score:0.28; TSS score:0.44; Unmatched score:0.18; Average GERP:-0.5745891089108912 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002650 29930469 HOTTIP rs17427960 A N/A 521 hepatocellular cancer patients and frequency-matched 817 controls EFO_0000182 N/A increasing risk hepatocellular carcinoma rs17427960-A of HOTTIP and its dysfunction is significantly associated with the increasing risk of Hepatocellular carcinoma by using case-control analysis in 521 hepatocellular cancer patients and frequency-matched 817 controls 0.4 Association of twelve polymorphisms in three onco-lncRNA genes with hepatocellular cancer risk and prognosis: A case-control study. case-control analysis HOTTIP lncRNA Hepatocellular carcinoma 0.33 AAAAAAAAAA(C > A)CCCTCTCAAG chr7: 27202847 0.3926,0.6074 0.39642265545361875,0.60357734454638124 Region score:0.19; TSS score:0.41; Unmatched score:0.41; Average GERP:-0.3826968085106385 GeneName:HOTTIP; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000243766; TranscriptID:ENST00000521028; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXA13; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000106031; TranscriptID:ENST00000222753; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF02040; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000276609; TranscriptID:ENST00000620415; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF02041; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000278708; TranscriptID:ENST00000616633; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF02042; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000277469; TranscriptID:ENST00000619957; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF02043; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277553; TranscriptID:ENST00000618195; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002651 26634245 NONHSAT217070.1 rs184394765 A N/A 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases EFO_0003892 N/A Associate Post bronchodilator fev1 in copd rs184394765-A of NONHSAT217070.1 is significantly associated with the post bronchodilator fev1 in copd by using GWAS analysis in 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases(p-value = 4E-6 ;OR = 142.9). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT217070.1 lncRNA Pulmonary function measurement 0.33 TCTCCATAGT(G > A)CTTCTTCTCT chr8: 56645824 N/A RS=184394765;RSPOS=56645824;dbSNPBuildID=135;SSR=0;SAO=0;VP=0x050000000005000014000100;GENEINFO=LOC105375851:105375851;WGT=1;VC=SNV;ASP;KGPhase1 Region score:0.38; TSS score:0.2; Unmatched score:0.39; Average GERP:0.12613554455445555 GeneName:AC009597.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000254055; TranscriptID:ENST00000521215; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002652 26634245 NONHSAT215343.1 rs191935895 A N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio rs191935895-A of NONHSAT215343.1 is significantly associated with the post bronchodilator fev1/fvc ratio by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 3E-6 ;OR = 0.334). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT215343.1 lncRNA Pulmonary function measurement 0.33 TTCATTCAGT(G > A)GTTCTGACAT chr8: 5409789 0.9998,0.0001997 0.99964959225280326,0.00035040774719673 Region score:0.38; TSS score:0.21; Unmatched score:0.03; Average GERP:-0.5333031683168319 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002653 28358873 NEAT1 rs1211896466 C Dominant 278 pRCC patients EFO_0000640 N/A poor prognosis papillary renal cell carcinoma rs1211896466-C of NEAT1 and its dysfunction is significantly associated with the poor prognosis of Papillary renal cell carcinoma by using analysis of sequence variation in 278 pRCC patients 0.4 Whole-genome analysis of papillary kidney cancer finds significant noncoding alterations. analysis of sequence variation NEAT1 lncRNA Papillary renal cell carcinoma 0.33 TCTCGACCCC(T > C)ATCACATTGC chr11: 65426566 0 0.99999203618756371,0.00000796381243628 - GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000264457; AnnoType:REGULATORY; mirSVR-Score:-0.0000; mirSVR-E:-10.72 | GeneName:NEAT1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000245532; TranscriptID:ENST00000501122; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0000; mirSVR-E:-10.72 | GeneName:RF01955; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000278144; TranscriptID:ENST00000620348; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0000; mirSVR-E:-10.72 | GeneName:RF01956; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000278050; TranscriptID:ENST00000620525; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0000; mirSVR-E:-10.72 | GeneName:RF01957; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000277599; TranscriptID:ENST00000613347; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0000; mirSVR-E:-10.72 | NCRV0000002654 28031287 NONHSAT161045.1 rs1993373 ? N/A 133 japanese ancestry individuals. EFO_0005772 N/A Associate Cerebrospinal fluid biomarker levels rs1993373-? of NONHSAT161045.1 is significantly associated with the cerebrospinal fluid biomarker levels by using GWAS analysis in 133 japanese ancestry individuals.(p-value = 2E-11 ;OR = ?). 0.4 Genome-wide quantitative trait loci mapping of the human cerebrospinal fluid proteome. genome-wide association analysis NONHSAT161045.1 lncRNA Neurodegenerative disease 0.33 ATCAATAAAT(A > G)AATGGACATG chr11: 18259088 0.3536,0.6464 0.32727287206931702,0.67272712793068297 Region score:0.23; TSS score:0.54; Unmatched score:0.32; Average GERP:-0.33583564356435647 GeneName:ST13P5; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000212789; TranscriptID:ENST00000526214; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002655 27050146 mir-149 rs2292832 C Recessive 996 patients with newly diagnosed, previously untreated, histopathologically confirmed index sccnop EFO_0000181 N/A Better prognosis Squamous cell carcinomas of the nonoropharynx rs2292832-C of mir-149 and its dysfunction is significantly associated with the better prognosis of squamous cell carcinomas of the nonoropharynx by using case-control analysis in 996 patients with newly diagnosed, previously untreated, histopathologically confirmed index SCCNOP. 0.4 Pre-miRNA variants as predictors of clinical outcome in patients with squamous cell carcinomas of the nonoropharynx. case-control analysis hsa-mir-149 miRNA Head and neck squamous cell cancer 0.503 CTGGGGCAGC(T > A,C)GGAACAACGC chr2: 240456086 0.3866,.,0.6134 0.31987449031600407,0.00025484199796126,0.67987066768603465 Region score:0.3; TSS score:0.39; Unmatched score:0.89; Average GERP:1.5002722772277222 GeneName:AC110619.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000218416; TranscriptID:ENST00000404891; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GPC1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000063660; TranscriptID:ENST00000264039; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR149; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207611; TranscriptID:ENST00000384879; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000133146; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002655 23272122 miR-149 rs2292832 T recessive 273 cases and 122 controls EFO_0000181 N/A poor prognosis head and neck squamous cell carcinoma rs2292832-T of hsa-mir-149 and its dysfunction is significantly associated with the poor prognosis of Head and neck squamous cell carcinoma by using case-control analysis in 273 cases and 122 controls 0.9 The association between genetic polymorphism and the processing efficiency of miR-149 affects the prognosis of patients with head and neck squamous cell carcinoma. case-control analysis hsa-mir-149 miRNA Head and neck squamous cell carcinoma 0.503 CTGGGGCAGC(T > A,C)GGAACAACGC chr2: 240456086 0.3866,.,0.6134 0.31987449031600407,0.00025484199796126,0.67987066768603465 Region score:0.3; TSS score:0.39; Unmatched score:0.89; Average GERP:1.5002722772277222 GeneName:AC110619.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000218416; TranscriptID:ENST00000404891; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GPC1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000063660; TranscriptID:ENST00000264039; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR149; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207611; TranscriptID:ENST00000384879; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000133146; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002655 20549817 mir-149 rs2292832 T N/A 1109 patients with SCCHN (cases) and in 1130 cancer-free patients (controls) EFO_0000181 N/A no significance for risk head and neck squamous cell carcinoma rs2292832-T of hsa-mir-149 and its dysfunction is not significantly associated with Head and neck squamous cell carcinoma by using case-control analysis in 1109 patients with SCCHN (cases) and in 1130 cancer-free patients (controls) -0.4 Genetic variants in selected pre-microRNA genes and the risk of squamous cell carcinoma of the head and neck. case-control analysis hsa-mir-149 miRNA Head and neck squamous cell carcinoma 0.503 CTGGGGCAGC(T > A,C)GGAACAACGC chr2: 240456086 0.3866,.,0.6134 0.31987449031600407,0.00025484199796126,0.67987066768603465 Region score:0.3; TSS score:0.39; Unmatched score:0.89; Average GERP:1.5002722772277222 GeneName:AC110619.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000218416; TranscriptID:ENST00000404891; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GPC1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000063660; TranscriptID:ENST00000264039; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR149; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207611; TranscriptID:ENST00000384879; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000133146; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002656 20694011 NONHSAT218855.1 rs10492294 ? N/A 430 european ancestry cases//1,090 european ancestry controls; 342 european ancestry cases//886 european ancestry controls EFO_0004747 N/A Associate Immunoglobulin a rs10492294-? of NONHSAT218855.1 is significantly associated with the immunoglobulin a by using GWAS analysis in 430 european ancestry cases//1,090 european ancestry controls; 342 european ancestry cases//886 european ancestry controls(p-value = 4E-6 ;OR = 1.49). 0.4 Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency. genome-wide association analysis NONHSAT218855.1 lncRNA Protein measurement 0.33 AGCAACTGAA(T > C)GAAGAGACTT chr8: 128234169 0.8552,0.1448 0.83528446738022426,0.16471553261977573 Region score:0.43; TSS score:0.2; Unmatched score:0.14; Average GERP:-0.48762900990099 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002657 24105470 NONHSAT093848.2 rs266719 T N/A 7,827 east asian ancestry individuals; 10,252 east asian ancestry individuals EFO_0000319 N/A Associate Adiponectin levels rs266719-T of NONHSAT093848.2 is significantly associated with the adiponectin levels by using GWAS analysis in 7,827 east asian ancestry individuals; 10,252 east asian ancestry individuals(p-value = 7E-7 ;OR = 0.13). 0.4 A meta-analysis of genome-wide association studies for adiponectin levels in East Asians identifies a novel locus near WDR11-FGFR2. genome-wide association analysis NONHSAT093848.2 lncRNA Cardiovascular disease 0.33 GTTTTTCCTC(T > C)CTAAGACATT chr3: 186783859 0.1444,0.8556 0.16571100917431192,0.83428899082568807 Region score:0.19; TSS score:0.29; Unmatched score:0.8; Average GERP:-2.476739603960397 GeneName:AC112907.3; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000263826; TranscriptID:ENST00000577781; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:EIF4A2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000156976; TranscriptID:ENST00000323963; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR1248; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000283958; TranscriptID:ENST00000629190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000163240; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORA4; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000263776; TranscriptID:ENST00000584302; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORA63B; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000200418; TranscriptID:ENST00000363548; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORA63; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000200320; TranscriptID:ENST00000363450; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORA81; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000221420; TranscriptID:ENST00000408493; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORD2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000238942; TranscriptID:ENST00000459163; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002658 28240269 NONHSAT010798.2 rs1339847 A N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0008114 N/A Associate Blood protein levels rs1339847-A of NONHSAT010798.2 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 9E-33 ;OR = 0.8472). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. genome-wide association analysis NONHSAT010798.2 lncRNA Dynein light chain roadblock-type 1 measurement 0.33 ATGGAGGGAT(G > A)TCCCCAACAA chr1: 247875992 0.874,0.126 0.89311767329255861,0.10688232670744138 Region score:0.53; TSS score:0.57; Unmatched score:0.67; Average GERP:1.2182661386138613 GeneName:TRIM58; CADD-Score:7; Consquence:missense; GeneID:ENSG00000162722; TranscriptID:ENST00000366481; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002659 23934736 NONHSAT167496.1 rs9532969 C N/A 1,260 african american individuals EFO_0005276 N/A Associate Metabolite levels (x-11787) rs9532969-C of NONHSAT167496.1 is significantly associated with the metabolite levels (x-11787) by using GWAS analysis in 1,260 african american individuals(p-value = 3E-6 ;OR = 0.05). 0.4 Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study. genome-wide association analysis NONHSAT167496.1 lncRNA Hydroxy-leucine measurement 0.33 GAATGTATTT(C > T)TTATTCGACC chr13: 42017703 0.7083,0.2917 0.70076771151885830,0.29923228848114169 Region score:0.24; TSS score:0.09; Unmatched score:0.01; Average GERP:0.24422871287128708 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002660 23377640 NONHSAT154687.1 rs12410462 A N/A up to 2,256 european ancestry cases EFO_0003761 N/A Associate Major depressive disorder rs12410462-A of NONHSAT154687.1 is significantly associated with the major depressive disorder by using GWAS analysis in up to 2,256 european ancestry cases(p-value = 4E-7 ;OR = 1.259). 0.4 Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies. genome-wide association analysis NONHSAT154687.1 lncRNA Unipolar depression 0.33 CAGCCTACCA(G > A)TGAAAGTAGA chr1: 227480089 0.8602,0.1398 0.87556543068297655,0.12443456931702344 Region score:0.29; TSS score:0.26; Unmatched score:0.21; Average GERP:-0.007019801980198031 GeneName:AL451054.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000237193; TranscriptID:ENST00000420896; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002661 28017375 NONHSAT206981.1 rs198846 ? N/A up to 21,020 european ancestry individuals//up to 3,621 african american individuals//up to 15,062 east asian individuals.; 16,389 european and african american individuals. EFO_0004527 N/A Associate Mean corpuscular hemoglobin concentration rs198846-? of NONHSAT206981.1 is significantly associated with the mean corpuscular hemoglobin concentration by using GWAS analysis in up to 21,020 european ancestry individuals//up to 3,621 african american individuals//up to 15,062 east asian individuals.; 16,389 european and african american individuals.(p-value = 1E-8 ;OR = ?). 0.4 Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis. genome-wide association analysis NONHSAT206981.1 lncRNA Mean corpuscular hemoglobin 0.33 GTGGCCGGGG(A > G,T)AATGAGGACC chr6: 26107235 0.1072,0.8928,. 0.12598751274209989,0.86556288226299694,0.00844960499490316 Region score:0.31; TSS score:0.11; Unmatched score:0.15; Average GERP:0.041252475247524754 GeneName:HIST1H1T; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000187475; TranscriptID:ENST00000338379; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HIST1H4C; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000197061; TranscriptID:ENST00000377803; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002662 21408207 NONHSAT194927.1 rs12629106 ? N/A 811 anti-dsdna positive european ancestry cases//906 anti-dsdna negative european ancestry cases//4,813 european ancestry controls EFO_0002690 N/A Associate Systemic lupus erythematosus rs12629106-? of NONHSAT194927.1 is significantly associated with the systemic lupus erythematosus by using GWAS analysis in 811 anti-dsdna positive european ancestry cases//906 anti-dsdna negative european ancestry cases//4,813 european ancestry controls(p-value = 4E-6 ;OR = 1.56). 0.4 Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production. genome-wide association analysis NONHSAT194927.1 lncRNA Systemic lupus erythematosus 0.33 TTTCAAGTGA(C > T)GCCCGTGTTG chr3: 177377284 0.873,0.127 0.85054313200815494,0.14945686799184505 Region score:0.31; TSS score:0.47; Unmatched score:0.26; Average GERP:-0.19494455445544562 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000709691; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002663 23111177 CDKN2B-AS1 rs2151280 ? Dominant 976 poag cases from the glaucoma genes and environment (glaugen) study and 1971 cases from the national eye institute glaucoma human genetics collaboration (neighbor) consortium EFO_0004190 N/A Decreasing risk Primary open-angle glaucoma rs2151280-? of CDKN2B-AS1 and its dysfunction is significantly associated with the decreasing risk of primary open-angle glaucoma by using case-control analysis in 976 POAG cases from the Glaucoma Genes and Environment (GLAUGEN) study and 1971 cases from the National Eye Institute Glaucoma Human Genetics Collaboration (NEIGHBOR) consortium. 0.4 CDKN2B-AS1 genotype-glaucoma feature correlations in primary open-angle glaucoma patients from the United States. case-control analysis CDKN2B-AS1 lncRNA Open-angle glaucoma 0.33 AGCTTGTTTC(G > A)CTTTTGAGGG chr9: 22034720 0.4623,0.5377 0.54156313710499490,0.45843686289500509 Region score:0.38; TSS score:0.2; Unmatched score:0.07; Average GERP:-0.10339257425742576 GeneName:AL359922.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000264545; TranscriptID:ENST00000404796; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CDKN2B-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000240498; TranscriptID:ENST00000428597; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002664 22747683 NONHSAT182515.1 rs13401620 A N/A 16,175 european ancestry female individuals EFO_0004884 N/A Associate Breast size rs13401620-A of NONHSAT182515.1 is significantly associated with the breast size by using GWAS analysis in 16,175 european ancestry female individuals(p-value = 2E-6 ;OR = 0.095). 0.4 Genetic variants associated with breast size also influence breast cancer risk. genome-wide association analysis NONHSAT182515.1 lncRNA Breast size 0.33 GTGTGTGTGC(G > A)TGTATGTGTG chr2: 119755557 0.7346,0.2654 0.74984072375127420,0.25015927624872579 Region score:0.24; TSS score:0.21; Unmatched score:0.18; Average GERP:0.16519176470588232 GeneName:PTPN4; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000088179; TranscriptID:ENST00000263708; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002665 26561523 NONHSAT183488.1 rs715 C N/A 120,246 european ancestry individuals EFO_0004623 N/A Associate Fibrinogen levels rs715-C of NONHSAT183488.1 is significantly associated with the fibrinogen levels by using GWAS analysis in 120,246 european ancestry individuals(p-value = 4E-16 ;OR = 0.0082). 0.4 A meta-analysis of 120 246 individuals identifies 18 new loci for fibrinogen concentration. genome-wide association analysis NONHSAT183488.1 lncRNA Fibrinogen measurement 0.52 TTCTGAACTC(T > C)TTCTATACTT chr2: 210678331 0.7638,0.2362 0.72770928899082568,0.27229071100917431 Region score:0.52; TSS score:0.86; Unmatched score:0.84; Average GERP:0.6805089108910892 GeneName:CPS1; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000021826; TranscriptID:ENST00000430249; AnnoType:3PRIME_UTR; mirSVR-Score:-1.1081; mirSVR-E:-13.72 | NCRV0000002665 23969696 NONHSAT183488.1 rs715 T N/A 91,323 european ancestry individuals; 8,423 african american individuals//1,447 hispanic individuals EFO_0004623 N/A Associate Fibrinogen rs715-T of NONHSAT183488.1 is significantly associated with the fibrinogen by using GWAS analysis in 91,323 european ancestry individuals; 8,423 african american individuals//1,447 hispanic individuals(p-value = 2E-11 ;OR = 0.009). 0.4 Multiethnic meta-analysis of genome-wide association studies in >100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease. genome-wide association analysis NONHSAT183488.1 lncRNA Fibrinogen measurement 0.52 TTCTGAACTC(T > C)TTCTATACTT chr2: 210678331 0.7638,0.2362 0.72770928899082568,0.27229071100917431 Region score:0.52; TSS score:0.86; Unmatched score:0.84; Average GERP:0.6805089108910892 GeneName:CPS1; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000021826; TranscriptID:ENST00000430249; AnnoType:3PRIME_UTR; mirSVR-Score:-1.1081; mirSVR-E:-13.72 | NCRV0000002665 28107422 NONHSAT183488.1 rs715 ? N/A 91,953 european ancestry individuals (imputed to hapmap); EFO_0004623 N/A Associate Fibrinogen levels rs715-? of NONHSAT183488.1 is significantly associated with the fibrinogen levels by using GWAS analysis in 91,953 european ancestry individuals (imputed to hapmap); (p-value = 9E-14 ;OR = 0.0092). 0.4 Comparison of HapMap and 1000 Genomes Reference Panels in a Large-Scale Genome-Wide Association Study. genome-wide association analysis NONHSAT183488.1 lncRNA Fibrinogen measurement 0.52 TTCTGAACTC(T > C)TTCTATACTT chr2: 210678331 0.7638,0.2362 0.72770928899082568,0.27229071100917431 Region score:0.52; TSS score:0.86; Unmatched score:0.84; Average GERP:0.6805089108910892 GeneName:CPS1; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000021826; TranscriptID:ENST00000430249; AnnoType:3PRIME_UTR; mirSVR-Score:-1.1081; mirSVR-E:-13.72 | NCRV0000002666 20139978 NONHSAT030736.2 rs739496 A N/A 14,806 japanese ancestry individuals EFO_0004309 N/A Associate Platelet count rs739496-A of NONHSAT030736.2 is significantly associated with the platelet count by using GWAS analysis in 14,806 japanese ancestry individuals(p-value = 5E-19 ;OR = 0.141). 0.4 Genome-wide association study of hematological and biochemical traits in a Japanese population. genome-wide association analysis NONHSAT030736.2 lncRNA Platelet count 0.451 TCTGTGCTCC(A > G)AGAGGTCAAA chr12: 111449855 0.5849,0.4151 0.69931033384301732,0.30068966615698267 Region score:0.4; TSS score:0.68; Unmatched score:0.67; Average GERP:-0.32235643564356437 GeneName:ATXN2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000204842; TranscriptID:ENST00000377617; AnnoType:DOWNSTREAM; mirSVR-Score:-0.2872; mirSVR-E:-18.87 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000469927; AnnoType:REGULATORY; mirSVR-Score:-0.2872; mirSVR-E:-18.87 | GeneName:SH2B3; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000111252; TranscriptID:ENST00000341259; AnnoType:3PRIME_UTR; mirSVR-Score:-0.2872; mirSVR-E:-18.87 | NCRV0000002666 25705162 NONHSAT030736.2 rs739496 A N/A 8,842 korean ancestry individuals; 7,861 korean ancestry individuals EFO_0004309 N/A Associate Platelet count rs739496-A of NONHSAT030736.2 is significantly associated with the platelet count by using GWAS analysis in 8,842 korean ancestry individuals; 7,861 korean ancestry individuals(p-value = 7E-12 ;OR = 8.25). 0.4 Genome-wide association study identifies candidate Loci associated with platelet count in koreans. genome-wide association analysis NONHSAT030736.2 lncRNA Platelet count 0.451 TCTGTGCTCC(A > G)AGAGGTCAAA chr12: 111449855 0.5849,0.4151 0.69931033384301732,0.30068966615698267 Region score:0.4; TSS score:0.68; Unmatched score:0.67; Average GERP:-0.32235643564356437 GeneName:ATXN2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000204842; TranscriptID:ENST00000377617; AnnoType:DOWNSTREAM; mirSVR-Score:-0.2872; mirSVR-E:-18.87 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000469927; AnnoType:REGULATORY; mirSVR-Score:-0.2872; mirSVR-E:-18.87 | GeneName:SH2B3; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000111252; TranscriptID:ENST00000341259; AnnoType:3PRIME_UTR; mirSVR-Score:-0.2872; mirSVR-E:-18.87 | NCRV0000002667 25944697 H19 rs3741219 C N/a 500 gastric cancer patients and 500 healthy controls. EFO_0000178 N/A No significance for risk Gastric cancer rs3741219-C of H19 and its dysfunction is not significantly associated with gastric cancer by using case-control analysis in 500 gastric cancer patients and 500 healthy controls -0.4 Tag SNPs in long non-coding RNA H19 contribute to susceptibility to gastric cancer in the Chinese Han population. case-control analysis H19 lncRNA Gastric cancer -0.33 CGGGCCCTGC(A > G)CAGGCACTTG chr11: 1995389 N/A 1 Region score:0.25; TSS score:0.5; Unmatched score:0.82; Average GERP:-0.5433396039603959 GeneName:H19; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000130600; TranscriptID:ENST00000414790; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0189; mirSVR-E:-21.99 | GeneName:LINC01219; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000232987; TranscriptID:ENST00000418612; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0189; mirSVR-E:-21.99 | GeneName:MIR675; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000284010; TranscriptID:ENST00000390168; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0189; mirSVR-E:-21.99 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000035875; AnnoType:REGULATORY; mirSVR-Score:-0.0189; mirSVR-E:-21.99 | GeneName:RF01972; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000275266; TranscriptID:ENST00000617997; AnnoType:UPSTREAM; mirSVR-Score:-0.0189; mirSVR-E:-21.99 | GeneName:RF01973; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000274866; TranscriptID:ENST00000620857; AnnoType:UPSTREAM; mirSVR-Score:-0.0189; mirSVR-E:-21.99 | NCRV0000002668 24204828 NONHSAT107061.2 rs9391988 A N/A 820 european ancestry individuals EFO_0001360 dietary factor interaction Associate Fasting insulin (dietary factor interaction) rs9391988-A of NONHSAT107061.2 is significantly associated with the fasting insulin (dietary factor interaction) by using GWAS analysis in 820 european ancestry individuals(p-value = 2E-6 ;OR = ?). 0.4 Genome-wide contribution of genotype by environment interaction to variation of diabetes-related traits. genome-wide association analysis NONHSAT107061.2 lncRNA Type ii diabetes mellitus 0.33 TCGGATCAGC(G > A)AGAGCTGCTC chr6: 3307629 0.7831,0.2169 0.77311894750254841,0.22688105249745158 Region score:0.25; TSS score:0.31; Unmatched score:0.19; Average GERP:-1.7833762376237616 GeneName:AL445309.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000272320; TranscriptID:ENST00000607565; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PSMG4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180822; TranscriptID:ENST00000451246; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SLC22A23; CADD-Score:2; Consquence:intron; GeneID:ENSG00000137266; TranscriptID:ENST00000406686; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002669 28049826 PTCSC2 rs965513 A dominant 59 pairs of tumor/nontumor PTC samples EFO_0000641 N/A increasing risk papillary thyroid carcinoma rs965513-A of PTCSC2 and its dysfunction is significantly associated with the increasing risk of Papillary thyroid carcinoma by using genome-wide association analysis in 59 pairs of tumor/nontumor PTC samples 1.4 MYH9 binds to lncRNA gene PTCSC2 and regulates FOXE1 in the 9q22 thyroid cancer risk locus. genome-wide association analysis PTCSC2 lncRNA Papillary thyroid carcinoma 0.753 ACAGATCAAA(A > G,T)GAGTAAATTA chr9: 97793827 0.2003,0.7997,. 0.25922209480122324,0.73903383027522935,0.00174407492354740 Region score:0.4; TSS score:0.23; Unmatched score:0.12; Average GERP:0.07347524752475243 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000888210; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PTCSC2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000236130; TranscriptID:ENST00000649461; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002670 23319000 NONHSAT154636.1 rs10863681 G N/A up to 398 european ancestry individuals EFO_0005132 N/A Associate Metabolite levels (hva-5-hiaa factor score) rs10863681-G of NONHSAT154636.1 is significantly associated with the metabolite levels (hva-5-hiaa factor score) by using GWAS analysis in up to 398 european ancestry individuals(p-value = 6E-6 ;OR = 0.2262). 0.4 Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid. genome-wide association analysis NONHSAT154636.1 lncRNA 5-hiaa measurement 0.33 TGGCAGATGC(A > G)CCAGCTCAAT chr1: 222071916 0.5643,0.4357 0.51475694444444444,0.48524305555555555 Region score:0.4; TSS score:0.51; Unmatched score:0.24; Average GERP:-0.8274376237623766 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000387686; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002671 28928442 NONHSAT081010.2 rs41278232 G N/A 60,098 european ancestry cases//113,323 european ancestry controls EFO_0007924 N/A Associate Tonsillectomy rs41278232-G of NONHSAT081010.2 is significantly associated with the tonsillectomy by using GWAS analysis in 60,098 european ancestry cases//113,323 european ancestry controls(p-value = 8E-9 ;OR = 1.08). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. genome-wide association analysis NONHSAT081010.2 lncRNA Tonsillectomy risk measurement 0.451 GAGGGCTTGG(G > A,C)CTCAGGTCCC chr20: 63975264 0.8608,0.1392,. 0.87133664627930682,0.12865538990825688,0.00000796381243628 Region score:0.42; TSS score:0.49; Unmatched score:0.75; Average GERP:0.34787920792079213 GeneName:SAMD10; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000130590; TranscriptID:ENST00000369886; AnnoType:3PRIME_UTR; mirSVR-Score:-0.0881; mirSVR-E:-28.24 | NCRV0000002671 27182965 NONHSAT081010.2 rs41278232 ? N/A 60,098 european ancestry cases//113,323 european ancestry controls EFO_0007924 N/A Associate Tonsillectomy rs41278232-? of NONHSAT081010.2 is significantly associated with the tonsillectomy by using GWAS analysis in 60,098 european ancestry cases//113,323 european ancestry controls(p-value = 8E-9 ;OR = 1.078). 0.4 Detection and interpretation of shared genetic influences on 42 human traits. genome-wide association analysis NONHSAT081010.2 lncRNA Tonsillectomy risk measurement 0.451 GAGGGCTTGG(G > A,C)CTCAGGTCCC chr20: 63975264 0.8608,0.1392,. 0.87133664627930682,0.12865538990825688,0.00000796381243628 Region score:0.42; TSS score:0.49; Unmatched score:0.75; Average GERP:0.34787920792079213 GeneName:SAMD10; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000130590; TranscriptID:ENST00000369886; AnnoType:3PRIME_UTR; mirSVR-Score:-0.0881; mirSVR-E:-28.24 | NCRV0000002672 22990020 NONHSAT214890.1 rs6976053 ? N/A 19,599 european ancestry individuals; 10,764 european ancestry individuals EFO_0000378 N/A Associate Plasminogen activator inhibitor type 1 levels (pai-1) rs6976053-? of NONHSAT214890.1 is significantly associated with the plasminogen activator inhibitor type 1 levels (pai-1) by using GWAS analysis in 19,599 european ancestry individuals; 10,764 european ancestry individuals(p-value = 6E-13 ;OR = 0.048). 0.4 Genome-wide association study for circulating levels of PAI-1 provides novel insights into its regulation. genome-wide association analysis NONHSAT214890.1 lncRNA Coronary artery disease 0.33 CAAGGTCTCA(C > A,T)GCCTAGGTCA chr7: 100914499 0.5216,.,0.4784 0.57970979867482161,.,0.42029020132517838 Region score:0.32; TSS score:0.27; Unmatched score:0.12; Average GERP:-0.07978217821782187 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002673 28240269 NONHSAT006299.2 rs13294 A N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0008126 N/A Associate Blood protein levels rs13294-A of NONHSAT006299.2 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 8E-102 ;OR = 0.8493). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. genome-wide association analysis NONHSAT006299.2 lncRNA Extracellular matrix protein 1 measurement 0.33 CATTGACATC(G > A,T)GTCGAGTCAC chr1: 150512511 0.7334,0.2666,. 0.67872387869520897,0.32127612130479102,. Region score:0.26; TSS score:0.33; Unmatched score:0.7; Average GERP:1.808408910891089 GeneName:ECM1; CADD-Score:7; Consquence:missense; GeneID:ENSG00000143369; TranscriptID:ENST00000369049; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:FALEC; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000228126; TranscriptID:ENST00000416894; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TARS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000143374; TranscriptID:ENST00000369064; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002674 22778062 SNORD17 rs753213 A N/a N/a function N/A Not significant changes in the structure Function rs753213-A of SNORD17 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD17 snoRNA Function -0.049 GGGCATTTTC(A > T)GGCTACATAG chr20: 17962849 0.7145,0.2855 0.75523222477064220,0.24476777522935779 Region score:0.46; TSS score:0.32; Unmatched score:0.73; Average GERP:1.9003603960396045 GeneName:OVOL2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000125850; TranscriptID:ENST00000486776; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORD17; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000212232; TranscriptID:ENST00000390930; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNX5; CADD-Score:2; Consquence:intron; GeneID:ENSG00000089006; TranscriptID:ENST00000377768; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002675 22778062 SNORA38B rs61602831 C N/a N/a function N/A Not significant changes in the structure Function rs61602831-C of SNORA38B and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORA38B snoRNA Function -0.049 CCATCCCACA(T > C)AGAAGCAGTA chr17: 67740797 0.9117,0.08826 0.90277777777777777,0.09722222222222222 Region score:0.5; TSS score:0.09; Unmatched score:0.35; Average GERP:-0.01808522772277244 GeneName:NOL11; CADD-Score:2; Consquence:intron; GeneID:ENSG00000130935; TranscriptID:ENST00000253247; AnnoType:INTRONIC; mirSVR-Score:-1.2082; mirSVR-E:-24.83 | GeneName:SNORA38B; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000200394; TranscriptID:ENST00000363524; AnnoType:NONCODING_CHANGE; mirSVR-Score:-1.2082; mirSVR-E:-24.83 | NCRV0000002676 26634245 NONHSAT047580.2 rs8040868 T N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs8040868-T of NONHSAT047580.2 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 1E-13 ;OR = 0.064). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT047580.2 lncRNA Pulmonary function measurement 0.52 ACACGTTGGC(T > C)ACAGGCCGGA chr15: 78618839 0.6715,0.3285 0.62953140927624872,0.37046859072375127 Region score:0.47; TSS score:0.65; Unmatched score:0.88; Average GERP:3.0833564356435654 GeneName:CHRNA3; CADD-Score:5; Consquence:synonymous; GeneID:ENSG00000080644; TranscriptID:ENST00000326828; AnnoType:SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000278483; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002676 26634245 NONHSAT047580.2 rs8040868 ? N/A 6,659 european ancestry current and former smoker individuals EFO_0003892 N/A Associate Pre bronchodilator fev1/fvc ratio rs8040868-? of NONHSAT047580.2 is significantly associated with the pre bronchodilator fev1/fvc ratio by using GWAS analysis in 6,659 european ancestry current and former smoker individuals(p-value = 2E-11 ;OR = 0.0173). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT047580.2 lncRNA Pulmonary function measurement 0.52 ACACGTTGGC(T > C)ACAGGCCGGA chr15: 78618839 0.6715,0.3285 0.62953140927624872,0.37046859072375127 Region score:0.47; TSS score:0.65; Unmatched score:0.88; Average GERP:3.0833564356435654 GeneName:CHRNA3; CADD-Score:5; Consquence:synonymous; GeneID:ENSG00000080644; TranscriptID:ENST00000326828; AnnoType:SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000278483; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002676 23284291 NONHSAT047580.2 rs8040868 T N/A 50,047 european ancestry individuals EFO_0003892 smoking interaction Associate Pulmonary function (smoking interaction) rs8040868-T of NONHSAT047580.2 is significantly associated with the pulmonary function (smoking interaction) by using GWAS analysis in 50,047 european ancestry individuals(p-value = 7E-7 ;OR = ?). 0.4 Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function. genome-wide association analysis NONHSAT047580.2 lncRNA Pulmonary function measurement 0.52 ACACGTTGGC(T > C)ACAGGCCGGA chr15: 78618839 0.6715,0.3285 0.62953140927624872,0.37046859072375127 Region score:0.47; TSS score:0.65; Unmatched score:0.88; Average GERP:3.0833564356435654 GeneName:CHRNA3; CADD-Score:5; Consquence:synonymous; GeneID:ENSG00000080644; TranscriptID:ENST00000326828; AnnoType:SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000278483; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002677 19851984 miR-604 rs2368392 T N/a 140 opl patients and 136 matched controls EFO_0006566 N/A No significance for risk Oral premalignant lesions rs2368392-T of miR-604 and its dysfunction is not significantly associated with oral premalignant lesions by using case-control analysis in 140 OPL patients and 136 matched controls. -0.4 Genetic variation in MicroRNA genes and risk of oral premalignant lesions. case-control analysis hsa-mir-604 miRNA Dysplastic oral keratinocyte -0.33 ACACGAGAGC(G > A)TGGAAGGTCA chr10: 29545074 0.6769,0.3231 0.70142870795107033,0.29857129204892966 Region score:0.32; TSS score:0.14; Unmatched score:0.33; Average GERP:-1.4355336633663358 GeneName:MIR604; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207612; TranscriptID:ENST00000384880; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SVIL; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197321; TranscriptID:ENST00000355867; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002678 28334792 NONHSAT067101.2 rs602662 A N/A 1,001 indo-european ancestry adults; 1,713 indo-european ancestry adults//690 indo-european ancestry children//481 dravidian ancestry adults//534 dravidian ancestry children EFO_0004620 N/A Associate Vitamin b12 levels rs602662-A of NONHSAT067101.2 is significantly associated with the vitamin b12 levels by using GWAS analysis in 1,001 indo-european ancestry adults; 1,713 indo-european ancestry adults//690 indo-european ancestry children//481 dravidian ancestry adults//534 dravidian ancestry children(p-value = 6E-13 ;OR = 0.18). 0.4 GWAS identifies population-specific new regulatory variants in FUT6 associated with plasma B12 concentrations in Indians. genome-wide association analysis NONHSAT067101.2 lncRNA Vitamin b12 measurement 0.52 CACCTCCCAC(G > A)GTGATGTGGT chr19: 48703728 0.6711,0.3289 0.54467698776758409,0.45532301223241590 Region score:0.31; TSS score:0.28; Unmatched score:0.38; Average GERP:1.4771663366336634 GeneName:FUT2; CADD-Score:7; Consquence:missense; GeneID:ENSG00000176920; TranscriptID:ENST00000425340; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002678 19303062 NONHSAT067101.2 rs602662 A N/A 2,934 european ancestry individuals; 686 european ancestry individuals EFO_0004620 N/A Associate Folate pathway vitamin levels rs602662-A of NONHSAT067101.2 is significantly associated with the folate pathway vitamin levels by using GWAS analysis in 2,934 european ancestry individuals; 686 european ancestry individuals(p-value = 3E-20 ;OR = 49.77). 0.4 Genome-wide association study of vitamin B6, vitamin B12, folate, and homocysteine blood concentrations. genome-wide association analysis NONHSAT067101.2 lncRNA Vitamin b12 measurement 0.52 CACCTCCCAC(G > A)GTGATGTGGT chr19: 48703728 0.6711,0.3289 0.54467698776758409,0.45532301223241590 Region score:0.31; TSS score:0.28; Unmatched score:0.38; Average GERP:1.4771663366336634 GeneName:FUT2; CADD-Score:7; Consquence:missense; GeneID:ENSG00000176920; TranscriptID:ENST00000425340; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002678 19744961 NONHSAT067101.2 rs602662 ? N/A 3,305 european ancestry females//1,458 european ancestry males EFO_0004620 N/A Associate Folate pathway vitamin levels rs602662-? of NONHSAT067101.2 is significantly associated with the folate pathway vitamin levels by using GWAS analysis in 3,305 european ancestry females//1,458 european ancestry males(p-value = 2E-15 ;OR = 0.07). 0.4 Genome-wide significant predictors of metabolites in the one-carbon metabolism pathway. genome-wide association analysis NONHSAT067101.2 lncRNA Vitamin b12 measurement 0.52 CACCTCCCAC(G > A)GTGATGTGGT chr19: 48703728 0.6711,0.3289 0.54467698776758409,0.45532301223241590 Region score:0.31; TSS score:0.28; Unmatched score:0.38; Average GERP:1.4771663366336634 GeneName:FUT2; CADD-Score:7; Consquence:missense; GeneID:ENSG00000176920; TranscriptID:ENST00000425340; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002679 23793025 NONHSAT207053.1 rs3095267 ? N/A 7,107 european ancestry cases//69,427 european ancestry controls EFO_0003821 N/A Associate Migraine without aura rs3095267-? of NONHSAT207053.1 is significantly associated with the migraine without aura by using GWAS analysis in 7,107 european ancestry cases//69,427 european ancestry controls(p-value = 9E-6 ;OR = 1.12). 0.4 Genome-wide meta-analysis identifies new susceptibility loci for migraine. genome-wide association analysis NONHSAT207053.1 lncRNA Migraine disorder 0.33 TCGTCTGTTT(G > C,T)GGCTGCCATA chr6: 29639269 0.7698,0.2302,. 0.81615538990825688,0.18330307084607543,0.00054153924566768 N/A GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000787118; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SUMO2P1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000235238; TranscriptID:ENST00000445436; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002680 26634245 NONHSAT142904.2 rs150896862 T N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio rs150896862-T of NONHSAT142904.2 is significantly associated with the post bronchodilator fev1/fvc ratio by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 1E-7 ;OR = 0.381). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT142904.2 lncRNA Pulmonary function measurement 0.33 GACATGCCTC(C > T)TCTCCTCTAC chr16: 60656528 0.9972,0.002796 0.99830370795107033,0.00169629204892966 Region score:0.43; TSS score:0.4; Unmatched score:0.46; Average GERP:0.3636057425742575 GeneName:GNPATP; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000259844; TranscriptID:ENST00000567548; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002681 26192919 NONHSAT157380.1 rs10748781 ? N/A 12,882 european ancestry cases//21,770 european ancestry controls; 25,273 european ancestry cases//26,715 european ancestry controls//548 iranian ancestry cases//342 iranian ancestry control//1,423 indian ancestry cases//990 indian ancestry controls//2,824 east asian ancestry cases//3,719 east asian ancestry controls EFO_0003767 N/A Associate Inflammatory bowel disease rs10748781-? of NONHSAT157380.1 is significantly associated with the inflammatory bowel disease by using GWAS analysis in 12,882 european ancestry cases//21,770 european ancestry controls; 25,273 european ancestry cases//26,715 european ancestry controls//548 iranian ancestry cases//342 iranian ancestry control//1,423 indian ancestry cases//990 indian ancestry controls//2,824 east asian ancestry cases//3,719 east asian ancestry controls(p-value = 2E-63 ;OR = ?). 0.4 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. genome-wide association analysis NONHSAT157380.1 lncRNA Inflammatory bowel disease 0.33 GGCAGCTTCC(C > A,G)GTCAATCCTG chr10: 99523573 0.2728,0.7272,. 0.32628535932721712,0.67371464067278287,. Region score:0.44; TSS score:0.61; Unmatched score:0.68; Average GERP:0.558362376237624 GeneName:AL513542.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000228778; TranscriptID:ENST00000452494; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LINC01475; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000257582; TranscriptID:ENST00000548010; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000413526; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002682 27182965 NONHSAT212499.1 rs6959584 ? N/A 28,399 european ancestry cases//128,843 european ancestry controls EFO_0000270 N/A Associate Asthma rs6959584-? of NONHSAT212499.1 is significantly associated with the asthma by using GWAS analysis in 28,399 european ancestry cases//128,843 european ancestry controls(p-value = 2E-8 ;OR = 1.086). 0.4 Detection and interpretation of shared genetic influences on 42 human traits. genome-wide association analysis NONHSAT212499.1 lncRNA Asthma 0.33 GGGGTAAATA(C > T)GTTCAGGAAT chr7: 106036059 0.9121,0.08786 0.89820654943934760,0.10179345056065239 Region score:0.37; TSS score:0.61; Unmatched score:0.6; Average GERP:-0.4485178217821783 GeneName:AC004836.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000280439; TranscriptID:ENST00000623032; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0092; mirSVR-E:-18.78 | GeneName:CDHR3; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000128536; TranscriptID:ENST00000317716; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0092; mirSVR-E:-18.78 | NCRV0000002683 23393555 NONHSAT126972.2 rs6472155 A N/A 19,411 european ancestry individuals EFO_0003839 N/A Associate Retinopathy in non-diabetics rs6472155-A of NONHSAT126972.2 is significantly associated with the retinopathy in non-diabetics by using GWAS analysis in 19,411 european ancestry individuals(p-value = 4E-6 ;OR = 0.23). 0.4 Genome-wide association study of retinopathy in individuals without diabetes. genome-wide association analysis NONHSAT126972.2 lncRNA Retinopathy 0.33 GTAATATGAG(G > A)TAAGTTTGGT chr8: 64817650 0.4189,0.5811 0.46061894750254841,0.53938105249745158 Region score:0.4; TSS score:0.26; Unmatched score:0.56; Average GERP:-0.21915148514851493 GeneName:AC104232.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000254006; TranscriptID:ENST00000522106; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000857358; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002684 23505185 NONHSAT186494.1 rs11680012 C N/A 928 french canadian individuals EFO_0001073 N/A Associate Adiposity rs11680012-C of NONHSAT186494.1 is significantly associated with the adiposity by using GWAS analysis in 928 french canadian individuals(p-value = 4E-6 ;OR = 0.581). 0.4 A variant in the LRRFIP1 gene is associated with adiposity and inflammation. genome-wide association analysis NONHSAT186494.1 lncRNA Obesity 0.33 TCAGGCCCGA(G > C)GGCTGGTGGT chr2: 237763782 0.9661,0.03395 0.96593877420998980,0.03406122579001019 Region score:0.37; TSS score:0.23; Unmatched score:0.3; Average GERP:-2.6105069306930693 GeneName:LRRFIP1; CADD-Score:7; Consquence:missense; GeneID:ENSG00000124831; TranscriptID:ENST00000392000; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002685 22778062 SNORA51 rs6050916 A N/a N/a function N/A Not significant changes in the structure Function rs6050916-A of SNORA51 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORA51 snoRNA Function -0.049 GCTGGGTGTA(G > A)GCCTCCTGGT chr20: 2655067 N/A RS=6050916;RSPOS=2655067;dbSNPBuildID=114;SSR=0;SAO=0;VP=0x0500000a0005000002000100;GENEINFO=SNORD57:26792|NOP56:10528|SNORD86:692201|SNORD56:26793|SNORA51:677831;WGT=1;VC=SNV;INT;R5;ASP Region score:0.37; TSS score:0.19; Unmatched score:0.68; Average GERP:1.6825326732673267 GeneName:IDH3B; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000101365; TranscriptID:ENST00000474315; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR1292; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000284481; TranscriptID:ENST00000408135; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NOP56; CADD-Score:2; Consquence:intron; GeneID:ENSG00000101361; TranscriptID:ENST00000329276; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORA51; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000271798; TranscriptID:ENST00000606420; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORD110; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000221116; TranscriptID:ENST00000408189; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORD56; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000229686; TranscriptID:ENST00000413522; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORD57; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000226572; TranscriptID:ENST00000448188; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORD86; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000212498; TranscriptID:ENST00000391196; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002686 28054174 NONHSAT218894.1 rs55658222 ? N/A 83 asian ancestry cases//1,173 asian ancestry case-parent trios//161 asian ancestry controls,170 european ancestry cases//988 european ancestry case-parent trios//835 european ancestry controls//570 latino or african cases//629 latino or african case-parent trios//704 latino or african controls//21 case-parent trios. EFO_0003959 N/A Associate Cleft lip with or without cleft palate rs55658222-? of NONHSAT218894.1 is significantly associated with the cleft lip with or without cleft palate by using GWAS analysis in 83 asian ancestry cases//1,173 asian ancestry case-parent trios//161 asian ancestry controls,170 european ancestry cases//988 european ancestry case-parent trios//835 european ancestry controls//570 latino or african cases//629 latino or african case-parent trios//704 latino or african controls//21 case-parent trios.(p-value = 8E-44 ;OR = 2.13). 0.4 Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate. genome-wide association analysis NONHSAT218894.1 lncRNA Cleft lip 0.33 GTTAAGTATT(G > A)TCTTTTTGGT chr8: 128963890 0.9233,0.07668 0.86663799694189602,0.13336200305810397 Region score:0.4; TSS score:0.1; Unmatched score:0.02; Average GERP:-0.9628689999999998 GeneName:CCDC26; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000229140; TranscriptID:ENST00000643616; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000869728; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002687 25936594 NONHSAT208963.1 rs886424 A N/A 346 european ancestry cases//727 european ancestry controls; 185 european ancestry cases//340 european ancestry controls EFO_0006812 N/A Associate Type 1 diabetes and autoimmune thyroid diseases rs886424-A of NONHSAT208963.1 is significantly associated with the type 1 diabetes and autoimmune thyroid diseases by using GWAS analysis in 346 european ancestry cases//727 european ancestry controls; 185 european ancestry cases//340 european ancestry controls(p-value = 3E-14 ;OR = 2.2107). 0.4 Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes. genome-wide association analysis NONHSAT208963.1 lncRNA Autoimmune thyroid disease 0.33 CTGCTCCTCA(C > T)CTGTACCCAG chr6: 30814225 0.9595,0.04054 0.91164946483180428,0.08835053516819571 Region score:0.21; TSS score:0.3; Unmatched score:0.57; Average GERP:-0.5504029702970293 GeneName:LINC00243; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000214894; TranscriptID:ENST00000399196; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000195451; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002688 23128233 NONHSAT191238.1 rs2823286 G N/A 12,924 european ancestry cases//21,442 european ancestry controls; 25,683 european ancestry cases//17,015 european ancestry controls EFO_0003767 N/A Associate Inflammatory bowel disease rs2823286-G of NONHSAT191238.1 is significantly associated with the inflammatory bowel disease by using GWAS analysis in 12,924 european ancestry cases//21,442 european ancestry controls; 25,683 european ancestry cases//17,015 european ancestry controls(p-value = 9E-30 ;OR = 1.157). 0.4 Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. genome-wide association analysis NONHSAT191238.1 lncRNA Inflammatory bowel disease 0.451 GGAACTCCCT(G > A)AATACACCCA chr21: 15445619 0.7654,0.2346 0.71994457186544342,0.28005542813455657 Region score:0.51; TSS score:0.49; Unmatched score:0.29; Average GERP:0.7481130693069303 GeneName:AJ009632.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000229425; TranscriptID:ENST00000634642; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002688 28067908 NONHSAT191238.1 rs2823286 ? N/A 25,042 european and unknown ancestry cases//34,915 european and unknown ancestry controls EFO_0003767 N/A Associate Inflammatory bowel disease rs2823286-? of NONHSAT191238.1 is significantly associated with the inflammatory bowel disease by using GWAS analysis in 25,042 european and unknown ancestry cases//34,915 european and unknown ancestry controls(p-value = 4E-29 ;OR = ?). 0.4 Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease. genome-wide association analysis NONHSAT191238.1 lncRNA Inflammatory bowel disease 0.451 GGAACTCCCT(G > A)AATACACCCA chr21: 15445619 0.7654,0.2346 0.71994457186544342,0.28005542813455657 Region score:0.51; TSS score:0.49; Unmatched score:0.29; Average GERP:0.7481130693069303 GeneName:AJ009632.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000229425; TranscriptID:ENST00000634642; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002689 22544364 NONHSAT186705.1 rs807624 A N/A 757 european ancestry cases//1,879 european ancestry controls; 1,488 european ancestry cases//3,851 european ancestry controls Orphanet_654 N/A Associate Wilms tumor rs807624-A of NONHSAT186705.1 is significantly associated with the wilms tumor by using GWAS analysis in 757 european ancestry cases//1,879 european ancestry controls; 1,488 european ancestry cases//3,851 european ancestry controls(p-value = 1E-14 ;OR = 1.33). 0.4 A genome-wide association study identifies susceptibility loci for Wilms tumor. genome-wide association analysis NONHSAT186705.1 lncRNA Nephroblastoma 0.33 GAGATTGAGT(G > T)TATTACCCTG chr2: 15642347 0.4085,0.5915 0.50071674311926605,0.49928325688073394 Region score:0.36; TSS score:0.37; Unmatched score:0.27; Average GERP:2.213387425742575 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000597950; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002690 26691988 NONHSAT179793.1 rs429358 ? N/A 16,144 european ancestry cases//17,832 european ancestry controls; 473 asian ancestry cases//1,099 asian ancestry controls//52 african ancestry cases//361 african ancestry cases//254 other non-european ancestry cases//694 other non-european ancestry controls EFO_0001365 N/A Associate Advanced age-related macular degeneration rs429358-? of NONHSAT179793.1 is significantly associated with the advanced age-related macular degeneration by using GWAS analysis in 16,144 european ancestry cases//17,832 european ancestry controls; 473 asian ancestry cases//1,099 asian ancestry controls//52 african ancestry cases//361 african ancestry cases//254 other non-european ancestry cases//694 other non-european ancestry controls(p-value = 2E-42 ;OR = 1.4285715). 0.4 A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants. genome-wide association analysis NONHSAT179793.1 lncRNA Age-related macular degeneration 0.33 GGAGGACGTG(T > C)GCGGCCGCCT chr19: 44908684 0.8494,0.1506 0.84440303261977573,0.15559696738022426 Region score:0.28; TSS score:0.39; Unmatched score:0.64; Average GERP:1.473687128712871 GeneName:AC011481.3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000280087; TranscriptID:ENST00000623895; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:APOE; CADD-Score:7; Consquence:missense; GeneID:ENSG00000130203; TranscriptID:ENST00000252486; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TOMM40; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000130204; TranscriptID:ENST00000252487; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002691 23555923 hsa-mir-105-2 rs5970292 A N/a 191 patients with tnbc and 192 healthy female controls EFO_0005537 N/A No significance for risk Triple-negative breast cancer rs5970292-A of hsa-mir-105-2 and its dysfunction is not significantly associated with Triple-negative breast cancer by using case-control analysis in 191 patients with TNBC and 192 healthy female controls. -0.4 There is no association between microRNA gene polymorphisms and risk of triple negative breast cancer in a Chinese Han population. case-control analysis hsa-mir-105-2 miRNA Triple-negative breast cancer -0.33 AAATCATGGT(G > A)CACAAAATTA chrX: 152392396 0.6257,0.3743 0.50462697502548419,0.49537302497451580 Region score:0.51; TSS score:0.22; Unmatched score:0.17; Average GERP:0.6685544554455447 GeneName:GABRA3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000011677; TranscriptID:ENST00000370314; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR105-1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207957; TranscriptID:ENST00000385222; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR105-2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207818; TranscriptID:ENST00000385083; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR767; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000211583; TranscriptID:ENST00000390228; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002692 26853712 NONHSAT181714.1 rs17802111 C N/A 330 chinese ancestry left-side-affected cases//609 chinese ancestry right-side-affected cases//2,012 chinese ancestry controls; 151 chinese ancestry left-side-affected cases//292 chinese ancestry right-side-affected cases//1,669 chinese ancestry controls Orphanet_141136 N/A Associate Craniofacial microsomia rs17802111-C of NONHSAT181714.1 is significantly associated with the craniofacial microsomia by using GWAS analysis in 330 chinese ancestry left-side-affected cases//609 chinese ancestry right-side-affected cases//2,012 chinese ancestry controls; 151 chinese ancestry left-side-affected cases//292 chinese ancestry right-side-affected cases//1,669 chinese ancestry controls(p-value = 1E-17 ;OR = 1.48). 0.4 Genome-wide association study identifies multiple susceptibility loci for craniofacial microsomia. genome-wide association analysis NONHSAT181714.1 lncRNA Hemifacial microsomia 0.33 AAGGAGAAGA(C > G,T)TGGATTGCTG chr2: 46282518 0.6136,.,0.3864 0.59721425840978593,0.00002389143730886,0.40276185015290519 Region score:0.29; TSS score:0.2; Unmatched score:0.09; Average GERP:-0.8348911881188119 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002693 24068962 NONHSAT011342.2 rs10491003 T N/A 39,400 european ancestry individuals; up to 21,679 european ancestry individuals EFO_0004838 N/A Associate Calcium levels rs10491003-T of NONHSAT011342.2 is significantly associated with the calcium levels by using GWAS analysis in 39,400 european ancestry individuals; up to 21,679 european ancestry individuals(p-value = 5E-9 ;OR = 0.027). 0.4 Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations. genome-wide association analysis NONHSAT011342.2 lncRNA Calcium measurement 0.33 AGAATTACTA(C > G,T)GCACTCAAGT chr10: 9286688 0.896,.,0.104 0.89217794342507645,0.00002389143730886,0.10779816513761467 Region score:0.39; TSS score:0.35; Unmatched score:0.42; Average GERP:-1.6007722772277222 GeneName:LINC00709; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000230014; TranscriptID:ENST00000458168; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002694 26152337 has-mir-3922 rs61938575 A N/a 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs61938575-A of has-mir-3922 and its dysfunction is not significantly associated with hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors. -0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. case-control analysis hsa-mir-3922 miRNA Hepatocellular cancer -0.33 AGGTCCCACA(G > A,C)CAGGGCTGGA chr12: 104591665 0.7181,0.2819,. 0.71315143985728848,0.28684059633027522,0.00000796381243628 Region score:0.4; TSS score:0.26; Unmatched score:0.37; Average GERP:-0.17950891089108928 GeneName:CHST11; CADD-Score:2; Consquence:intron; GeneID:ENSG00000171310; TranscriptID:ENST00000303694; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3922; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000264295; TranscriptID:ENST00000585192; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002695 27603512 miR-130b rs373001 C N/A 523 ischemic stroke patients and 400 control subjects HP_0002140 N/A no significance for risk Ischemic stroke rs373001-C of hsa-mir-130b and its dysfunction is not significantly associated with Ischemic stroke by using case-control analysis in 523 ischemic stroke patients and 400 control subjects -0.4 Association of the Single Nucleotide Polymorphisms in microRNAs 130b, 200b, and 495 with Ischemic Stroke Susceptibility and Post-Stroke Mortality. case-control analysis hsa-mir-130b miRNA Ischemic stroke -0.33 GCCCTCCCCT(C > G,T)CCCCCTACCC chr22: 21653137 0.5361,.,0.4639 0.60732830020387359,0.00290679153924566,0.38976490825688073 Region score:0.24; TSS score:0.29; Unmatched score:0.83; Average GERP:0.8502643564356437 GeneName:AP000553.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000207751; TranscriptID:ENST00000498589; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AP000553.5; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284630; TranscriptID:ENST00000641967; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR130B; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000283871; TranscriptID:ENST00000385018; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR301B; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000212102; TranscriptID:ENST00000390813; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000144040; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000667266; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002696 28928442 NONHSAT159357.1 rs72931768 G N/A 46,936 european ancestry cases//74,874 european ancestry controls EFO_0007904 N/A Associate Childhood ear infection rs72931768-G of NONHSAT159357.1 is significantly associated with the childhood ear infection by using GWAS analysis in 46,936 european ancestry cases//74,874 european ancestry controls(p-value = 3E-9 ;OR = 1.09). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. genome-wide association analysis NONHSAT159357.1 lncRNA Susceptibility to childhood ear infection measurement 0.451 CCTCTCCTGC(G > A,C)GGCCACATGG chr11: 69983611 0.9193,.,0.08067 0.90471298419979612,0.00019909531090723,0.09508792048929663 Region score:0.36; TSS score:0.62; Unmatched score:0.59; Average GERP:-1.1339445544554458 GeneName:AP003555.3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000255191; TranscriptID:ENST00000534086; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000041449; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002696 27182965 NONHSAT159357.1 rs72931768 ? N/A 46,936 european ancestry cases//74,874 european ancestry controls EFO_0007904 N/A Associate Childhood ear infection rs72931768-? of NONHSAT159357.1 is significantly associated with the childhood ear infection by using GWAS analysis in 46,936 european ancestry cases//74,874 european ancestry controls(p-value = 3E-9 ;OR = 1.086). 0.4 Detection and interpretation of shared genetic influences on 42 human traits. genome-wide association analysis NONHSAT159357.1 lncRNA Susceptibility to childhood ear infection measurement 0.451 CCTCTCCTGC(G > A,C)GGCCACATGG chr11: 69983611 0.9193,.,0.08067 0.90471298419979612,0.00019909531090723,0.09508792048929663 Region score:0.36; TSS score:0.62; Unmatched score:0.59; Average GERP:-1.1339445544554458 GeneName:AP003555.3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000255191; TranscriptID:ENST00000534086; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000041449; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002697 27741504 miR-499 rs3746444 C N/a 218 endometriosis patients and 202 healthy women age-matched controls EFO_0001065 N/A No significance for risk Endometriosis rs3746444-C of miR-499 and its dysfunction is not significantly associated with endometriosis by using case-control analysis in 218 endometriosis patients and 202 healthy women age-matched controls. -0.4 Up-regulation of ribosome biogenesis by MIR196A2 genetic variation promotes endometriosis development and progression. case-control analysis hsa-mir-499a miRNA Endometriosis -0.33 CCACGTGAAC(A > G)TCACAGCAAG chr20: 34990448 0.8165,0.1835 0.81708715596330275,0.18291284403669724 Region score:0.79; TSS score:0.85; Unmatched score:0.95; Average GERP:3.757564356435645 GeneName:MIR499A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207635; TranscriptID:ENST00000384903; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR499B; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283441; TranscriptID:ENST00000636498; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYH7B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000078814; TranscriptID:ENST00000262873; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002698 26577852 HOTAIR rs12826786 T Recessive 123 breast cancer patients and 122 age-matched healthy controls EFO_0000305 N/A Increasing risk Breast cancer rs12826786-T of HOTAIR and its dysfunction is significantly associated with the increasing risk of breast cancer by using case-control analysis in 123 breast cancer patients and 122 age-matched healthy controls. 0.4 A functional HOTAIR rs12826786 C>T polymorphism is associated with breast cancer susceptibility and poor clinicopathological characteristics in a Turkish population: a hospital-based case-control study. case-control analysis HOTAIR lncRNA Breast cancer 0.33 GTGAATTAGA(C > T)CTTTATCCTA chr12: 53961717 0.6424,0.3576 0.62241176095820591,0.37758823904179408 Region score:0.26; TSS score:0.59; Unmatched score:0.66; Average GERP:-0.08039504950495045 GeneName:HOTAIR; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000228630; TranscriptID:ENST00000424518; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC12; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000123407; TranscriptID:ENST00000243103; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000052264; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000458640; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01905; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000275589; TranscriptID:ENST00000611210; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01906; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277994; TranscriptID:ENST00000611352; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002699 28090653 NONHSAT150264.1 rs145744152 C N/A up to 488 european ancestry cases//up to 111 african american cases//up to 60 hispanic cases//up to 56 other ancestry cases EFO_0000220 N/A Associate Alanine aminotransferase (alt) levels after remission induction therapy in actute lymphoblastic leukemia (all) rs145744152-C of NONHSAT150264.1 is significantly associated with the alanine aminotransferase (alt) levels after remission induction therapy in actute lymphoblastic leukemia (all) by using GWAS analysis in up to 488 european ancestry cases//up to 111 african american cases//up to 60 hispanic cases//up to 56 other ancestry cases(p-value = 9E-6 ;OR = 2.75). 0.4 Genome-Wide Study Links PNPLA3 Variant With Elevated Hepatic Transaminase After Acute Lymphoblastic Leukemia Therapy. genome-wide association analysis NONHSAT150264.1 lncRNA Acute lymphoblastic leukemia 0.33 GCACACAAGA(T > C)GGTTGGTCAC chr1: 196902587 0.9956,0.004393 0.99077790519877675,0.00922209480122324 Region score:0.32; TSS score:0.36; Unmatched score:0.52; Average GERP:-0.8546237623762377 GeneName:CFHR4; CADD-Score:5; Consquence:synonymous; GeneID:ENSG00000134365; TranscriptID:ENST00000367416; AnnoType:SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000381823; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002700 22778062 SNORD109B rs34377998 G N/A N/A function N/A not significant changes in the structure function rs34377998-G of SNORD109B and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in nan -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD109B snoRNA function -0.049 TCTGAGGATG(C > G)TGAGGGACTC chr15: 25278375 0 RS=34377998;RSPOS=25278375;dbSNPBuildID=126;SSR=0;SAO=0;VP=0x050000080005000102000100;GENEINFO=SNHG14:104472715|SNORD109B:338429;WGT=1;VC=SNV;INT;ASP;GNO Region score:0.51; TSS score:0.23; Unmatched score:0.71; Average GERP:1.2702811881188119 GeneName:SNHG14; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000224078; TranscriptID:ENST00000554726; AnnoType:INTRONIC; mirSVR-Score:-0.5482; mirSVR-E:-16.97 | GeneName:SNORD109B; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000239169; TranscriptID:ENST00000458961; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.5482; mirSVR-E:-16.97 | NCRV0000002701 25188341 NONHSAT150383.1 rs11118993 A N/A up to 4,707 individuals EFO_0006797 N/A Associate Neurofibrillary tangles rs11118993-A of NONHSAT150383.1 is significantly associated with the neurofibrillary tangles by using GWAS analysis in up to 4,707 individuals(p-value = 9E-6 ;OR = 0.2051). 0.4 Genome-wide association meta-analysis of neuropathologic features of Alzheimer's disease and related dementias. genome-wide association analysis NONHSAT150383.1 lncRNA Neurofibrilliary tangles measurement 0.33 TTTTCTCTTT(A > G,T)TAAATTACCC chr1: 206542522 0.4171,0.5829,. 0.47130638379204892,0.52862990570846075,0.00006371049949031 Region score:0.23; TSS score:0.05; Unmatched score:0.01; Average GERP:0.0743663366336634 GeneName:AC244034.3; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000279946; TranscriptID:ENST00000624347; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RASSF5; CADD-Score:2; Consquence:intron; GeneID:ENSG00000266094; TranscriptID:ENST00000579436; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002702 26634245 NONHSAT206133.1 rs73780158 G N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio rs73780158-G of NONHSAT206133.1 is significantly associated with the post bronchodilator fev1/fvc ratio by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 5E-7 ;OR = 0.062). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT206133.1 lncRNA Pulmonary function measurement 0.33 CAAGCCGCCC(A > G)GCTTTGAAAC chr5: 101256390 0.9942,0.005791 0.99411474260958205,0.00588525739041794 Region score:0.44; TSS score:0.29; Unmatched score:0.04; Average GERP:-0.7149910891089111 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002703 28360221 NONHSAT032769.2 rs17074418 T N/A 45,889 european ancestry individuals//up to 8,765 asian indian ancestry individuals//up to 7,215 african ancestry individuals; 17,637 european ancestry individuals EFO_0007967 N/A Associate Blood osmolality (transformed sodium) rs17074418-T of NONHSAT032769.2 is significantly associated with the blood osmolality (transformed sodium) by using GWAS analysis in 45,889 european ancestry individuals//up to 8,765 asian indian ancestry individuals//up to 7,215 african ancestry individuals; 17,637 european ancestry individuals(p-value = 5E-6 ;OR = 0.05). 0.4 NFAT5 and SLC4A10 Loci Associate with Plasma Osmolality. genome-wide association analysis NONHSAT032769.2 lncRNA Blood osmolality measurement 0.33 ACTGGGAATT(T > C)AGAAATATCA chr13: 30203718 0.9201,0.07987 0.91111588939857288,0.08888411060142711 Region score:0.31; TSS score:0.76; Unmatched score:0.67; Average GERP:0.33037920792079206 GeneName:KATNAL1; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000102781; TranscriptID:ENST00000380615; AnnoType:3PRIME_UTR; mirSVR-Score:-0.3685; mirSVR-E:-12.77 | NCRV0000002704 28928442 NONHSAT008884.2 rs17177486 ? N/A 31,227 european ancestry cases//54,153 european ancestry controls EFO_0008404 N/A Associate Mumps rs17177486-? of NONHSAT008884.2 is significantly associated with the mumps by using GWAS analysis in 31,227 european ancestry cases//54,153 european ancestry controls(p-value = 9E-6 ;OR = 0.2187). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. genome-wide association analysis NONHSAT008884.2 lncRNA Susceptibility to mumps measurement 0.33 AGAAGTGACT(C > T)CTGGTGTCCT chr1: 203341719 0.9894,0.01058 0.98879491590214067,0.01120508409785932 Region score:0.47; TSS score:0.77; Unmatched score:0.84; Average GERP:-0.2768396039603961 GeneName:FMOD; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000122176; TranscriptID:ENST00000354955; AnnoType:3PRIME_UTR; mirSVR-Score:-0.3741; mirSVR-E:-20.83 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000256248; AnnoType:REGULATORY; mirSVR-Score:-0.3741; mirSVR-E:-20.83 | NCRV0000002705 29930469 HOTTIP rs17501292 G N/A 521 hepatocellular cancer patients and frequency-matched 817 controls EFO_0000182 N/A increasing risk hepatocellular carcinoma rs17501292-G of HOTTIP and its dysfunction is significantly associated with the increasing risk of Hepatocellular carcinoma by using case-control analysis in 521 hepatocellular cancer patients and frequency-matched 817 controls 0.4 Association of twelve polymorphisms in three onco-lncRNA genes with hepatocellular cancer risk and prognosis: A case-control study. case-control analysis HOTTIP lncRNA Hepatocellular carcinoma 0.33 AGTGTGCCCT(T > C,G)TCCTTCTTGA chr7: 27201854 0.8089,.,0.1911 0.78819444444444444,0.00000796381243628,0.21179759174311926 Region score:0.3; TSS score:0.52; Unmatched score:0.82; Average GERP:1.5326277227722767 GeneName:HOTTIP; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000243766; TranscriptID:ENST00000521028; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.3192; mirSVR-E:-16.22 | GeneName:HOXA13; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000106031; TranscriptID:ENST00000222753; AnnoType:UPSTREAM; mirSVR-Score:-0.3192; mirSVR-E:-16.22 | GeneName:RF02040; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000276609; TranscriptID:ENST00000620415; AnnoType:DOWNSTREAM; mirSVR-Score:-0.3192; mirSVR-E:-16.22 | GeneName:RF02041; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000278708; TranscriptID:ENST00000616633; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.3192; mirSVR-E:-16.22 | GeneName:RF02042; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277469; TranscriptID:ENST00000619957; AnnoType:UPSTREAM; mirSVR-Score:-0.3192; mirSVR-E:-16.22 | GeneName:RF02043; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277553; TranscriptID:ENST00000618195; AnnoType:UPSTREAM; mirSVR-Score:-0.3192; mirSVR-E:-16.22 | NCRV0000002706 21116278 NONHSAT161447.1 rs2852894 ? N/A 434 european ancestry mild cognitive impairment cases//245 european ancestry alzheimer's disease cases//284 european ancestry controls EFO_0000249 N/A Associate Whole-brain volume (alzheimer's disease interaction) rs2852894-? of NONHSAT161447.1 is significantly associated with the whole-brain volume (alzheimer's disease interaction) by using GWAS analysis in 434 european ancestry mild cognitive impairment cases//245 european ancestry alzheimer's disease cases//284 european ancestry controls(p-value = 1E-6 ;OR = 0.016). 0.4 Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease. genome-wide association analysis NONHSAT161447.1 lncRNA Alzheimers disease 0.33 GTAGGGGACT(A > G)GATGTGGTGG chr11: 102284743 0.04353,0.9565 0.06277873343527013,0.93722126656472986 Region score:0.38; TSS score:0.22; Unmatched score:0.03; Average GERP:-0.3191958415841585 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002707 26379361 miR219-1 rs107822 A Recessive 248 Kazakh esophageal squamous cell carcinoma (ESCC) cases and 300 frequency-matched control subjects EFO_0005922 N/A decreasing risk esophageal squamous cell carcinoma rs107822-A of hsa-mir-219a-1 and its dysfunction is significantly associated with the decreasing risk of Esophageal squamous cell carcinoma by using case-control analysis in 248 Kazakh esophageal squamous cell carcinoma (ESCC) cases and 300 frequency-matched control subjects 0.4 A Genetic Variant in miRNA-219-1 Is Associated with Risk of Esophageal Squamous Cell Carcinoma in Chinese Kazakhs. case-control analysis hsa-mir-219a-1 miRNA Esophageal squamous cell carcinoma 0.33 GTGGTGTCTC(C > T)ATTCCCCCTT chr6: 33207798 0.624,0.376 0.69983594546381243,0.30016405453618756 Region score:0.56; TSS score:0.5; Unmatched score:0.96; Average GERP:1.363105217821782 GeneName:HSD17B8; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000204228; TranscriptID:ENST00000374662; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR219A1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000199036; TranscriptID:ENST00000362166; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000195766; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RING1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000204227; TranscriptID:ENST00000374656; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SLC39A7; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000112473; TranscriptID:ENST00000374677; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002708 22412388 NONHSAT003779.2 rs11209026 G N/A 737 ashkenazi jewish cases//2,257 ashkenazi jewish controls; 971 ashkenazi jewish cases//2,124 ashkenazi jewish controls EFO_0000384 N/A Associate Crohn's disease rs11209026-G of NONHSAT003779.2 is significantly associated with the crohn's disease by using GWAS analysis in 737 ashkenazi jewish cases//2,257 ashkenazi jewish controls; 971 ashkenazi jewish cases//2,124 ashkenazi jewish controls(p-value = 1E-18 ;OR = 2.2). 0.4 A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci. genome-wide association analysis NONHSAT003779.2 lncRNA Crohn's disease 0.599 AGATCATTCC(G > A)AACTGGGTAG chr1: 67240275 0.9772,0.02276 0.95546636085626911,0.04453363914373088 Region score:0.42; TSS score:0.36; Unmatched score:0.6; Average GERP:1.6307445544554449 GeneName:IL23R; CADD-Score:7; Consquence:missense; GeneID:ENSG00000162594; TranscriptID:ENST00000347310; AnnoType:NON_SYNONYMOUS; mirSVR-Score:-1.3115; mirSVR-E:-14.41 | NCRV0000002708 17447842 NONHSAT003779.2 rs11209026 ? N/A 547 european ancestry cases//928 european ancestry controls; 1,266 european ancestry cases//559 european ancestry controls//up to 428 european ancestry trios EFO_0000384 N/A Associate Crohn's disease rs11209026-? of NONHSAT003779.2 is significantly associated with the crohn's disease by using GWAS analysis in 547 european ancestry cases//928 european ancestry controls; 1,266 european ancestry cases//559 european ancestry controls//up to 428 european ancestry trios(p-value = 2E-18 ;OR = 2.92). 0.4 Novel Crohn disease locus identified by genome-wide association maps to a gene desert on 5p13.1 and modulates expression of PTGER4. genome-wide association analysis NONHSAT003779.2 lncRNA Crohn's disease 0.599 AGATCATTCC(G > A)AACTGGGTAG chr1: 67240275 0.9772,0.02276 0.95546636085626911,0.04453363914373088 Region score:0.42; TSS score:0.36; Unmatched score:0.6; Average GERP:1.6307445544554449 GeneName:IL23R; CADD-Score:7; Consquence:missense; GeneID:ENSG00000162594; TranscriptID:ENST00000347310; AnnoType:NON_SYNONYMOUS; mirSVR-Score:-1.3115; mirSVR-E:-14.41 | NCRV0000002708 21102463 NONHSAT003779.2 rs11209026 G N/A 6,333 european ancestry cases//15,056 european ancestry controls; 15,694 european ancestry cases//14,026 european ancestry controls//414 european ancestry trios EFO_0000384 N/A Associate Crohn's disease rs11209026-G of NONHSAT003779.2 is significantly associated with the crohn's disease by using GWAS analysis in 6,333 european ancestry cases//15,056 european ancestry controls; 15,694 european ancestry cases//14,026 european ancestry controls//414 european ancestry trios(p-value = 1E-64 ;OR = 2.66). 0.4 Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. genome-wide association analysis NONHSAT003779.2 lncRNA Crohn's disease 0.599 AGATCATTCC(G > A)AACTGGGTAG chr1: 67240275 0.9772,0.02276 0.95546636085626911,0.04453363914373088 Region score:0.42; TSS score:0.36; Unmatched score:0.6; Average GERP:1.6307445544554449 GeneName:IL23R; CADD-Score:7; Consquence:missense; GeneID:ENSG00000162594; TranscriptID:ENST00000347310; AnnoType:NON_SYNONYMOUS; mirSVR-Score:-1.3115; mirSVR-E:-14.41 | NCRV0000002708 22936669 NONHSAT003779.2 rs11209026 G N/A 1,277 european ancestry cases//1,488 european ancestry controls; 1,365 european ancestry cases//1,396 european ancestry controls EFO_0000384 N/A Associate Crohn's disease rs11209026-G of NONHSAT003779.2 is significantly associated with the crohn's disease by using GWAS analysis in 1,277 european ancestry cases//1,488 european ancestry controls; 1,365 european ancestry cases//1,396 european ancestry controls(p-value = 4E-14 ;OR = 2.84). 0.4 A genome-wide association study on a southern European population identifies a new Crohn's disease susceptibility locus at RBX1-EP300. genome-wide association analysis NONHSAT003779.2 lncRNA Crohn's disease 0.599 AGATCATTCC(G > A)AACTGGGTAG chr1: 67240275 0.9772,0.02276 0.95546636085626911,0.04453363914373088 Region score:0.42; TSS score:0.36; Unmatched score:0.6; Average GERP:1.6307445544554449 GeneName:IL23R; CADD-Score:7; Consquence:missense; GeneID:ENSG00000162594; TranscriptID:ENST00000347310; AnnoType:NON_SYNONYMOUS; mirSVR-Score:-1.3115; mirSVR-E:-14.41 | NCRV0000002708 22293688 NONHSAT003779.2 rs11209026 ? N/A 16,179 european ancestry individuals EFO_0000384 N/A Associate Crohn's disease rs11209026-? of NONHSAT003779.2 is significantly associated with the crohn's disease by using GWAS analysis in 16,179 european ancestry individuals(p-value = 4E-21 ;OR = 3.18). 0.4 1000 Genomes-based imputation identifies novel and refined associations for the Wellcome Trust Case Control Consortium phase 1 Data. genome-wide association analysis NONHSAT003779.2 lncRNA Crohn's disease 0.599 AGATCATTCC(G > A)AACTGGGTAG chr1: 67240275 0.9772,0.02276 0.95546636085626911,0.04453363914373088 Region score:0.42; TSS score:0.36; Unmatched score:0.6; Average GERP:1.6307445544554449 GeneName:IL23R; CADD-Score:7; Consquence:missense; GeneID:ENSG00000162594; TranscriptID:ENST00000347310; AnnoType:NON_SYNONYMOUS; mirSVR-Score:-1.3115; mirSVR-E:-14.41 | NCRV0000002709 27863252 NONHSAT179731.1 rs2304176 C N/A 164,454 european ancestry individuals EFO_0004584 N/A Associate Mean platelet volume rs2304176-C of NONHSAT179731.1 is significantly associated with the mean platelet volume by using GWAS analysis in 164,454 european ancestry individuals(p-value = 9E-12 ;OR = 0.02958239). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT179731.1 lncRNA Mean platelet volume 0.33 CAACTTCTCT(T > C,G)ACCGCCATGG chr19: 38304255 0.6585,0.3415,. 0.74981683231396534,0.25017520387359836,0.00000796381243628 Region score:0.38; TSS score:0.62; Unmatched score:0.94; Average GERP:-1.169678316831683 GeneName:AC011479.1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000267748; TranscriptID:ENST00000591889; AnnoType:INTRONIC; mirSVR-Score:-0.1905; mirSVR-E:-17.29 | GeneName:C19orf33; CADD-Score:3; Consquence:5_prime_UTR; GeneID:ENSG00000167644; TranscriptID:ENST00000301246; AnnoType:5PRIME_UTR; mirSVR-Score:-0.1905; mirSVR-E:-17.29 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000589512; AnnoType:REGULATORY; mirSVR-Score:-0.1905; mirSVR-E:-17.29 | GeneName:YIF1B; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000167645; TranscriptID:ENST00000339413; AnnoType:DOWNSTREAM; mirSVR-Score:-0.1905; mirSVR-E:-17.29 | NCRV0000002710 22818121 miR-492 rs2289030 C N/a 388 patients with nsclc EFO_0003060 N/A No significance for risk Non-small cell lung cancer rs2289030-C of miR-492 and its dysfunction is not significantly associated with non-small cell lung cancer by using analysis of sequence variation in 388 patients with NSCLC. -0.4 The prognostic impact of microRNA sequence polymorphisms on the recurrence of patients with completely resected non-small cell lung cancer. analysis of sequence variation hsa-mir-492 miRNA Non-small cell lung cancer -0.33 ACTGGCTGCA(G > C)ATGACTTCTG chr12: 94834510 0.8856,0.1144 0.93300840978593272,0.06699159021406727 Region score:0.46; TSS score:0.27; Unmatched score:0.47; Average GERP:0.04842574257425743 GeneName:KRT19P2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000216306; TranscriptID:ENST00000557173; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.5124; mirSVR-E:-22.60 | GeneName:MIR492; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000283998; TranscriptID:ENST00000638676; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.5124; mirSVR-E:-22.60 | NCRV0000002711 28115739 NONHSAT184257.1 rs7578347 T N/A 1,027 european american cases//383 african american cases EFO_0005611 N/A Associate Methadone dose in opioid dependence rs7578347-T of NONHSAT184257.1 is significantly associated with the methadone dose in opioid dependence by using GWAS analysis in 1,027 european american cases//383 african american cases(p-value = 3E-7 ;OR = 0.3926). 0.4 Genome-wide association study of therapeutic opioid dosing identifies a novel locus upstream of OPRM1. genome-wide association analysis NONHSAT184257.1 lncRNA Opioid dependence 0.33 CTTACCTGCT(C > T)GTGGAATGCT chr2: 12981042 0.6643,0.3357 0.73747292303771661,0.26252707696228338 Region score:0.3; TSS score:0.24; Unmatched score:0.47; Average GERP:-1.8982237623762366 GeneName:AC064875.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000225649; TranscriptID:ENST00000425974; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000597589; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002712 19138993 mir124-1 rs531564 G Dominant 346 caucasian esophageal cancer patients (85.5% with esophageal adenocarcinoma) and 346 frequency-matched (age, gender, and ethnicity) controls EFO_0002916 N/A Increasing risk Esophageal cancer rs531564-G of mir124-1 and its dysfunction is significantly associated with the increasing risk of esophageal cancer by using case-control analysis in 346 Caucasian esophageal cancer patients (85.5% with esophageal adenocarcinoma) and 346 frequency-matched (age, gender, and ethnicity) controls. 0.4 Genetic variations in microRNA-related genes are novel susceptibility loci for esophageal cancer risk. case-control analysis hsa-mir-124-1 miRNA Esophageal cancer 0.33 CCCTGAGTCT(G > C)TTTGCATCTC chr8: 9903189 0.87,0.13 0.86338079765545361,0.13661920234454638 Region score:0.48; TSS score:0.58; Unmatched score:0.92; Average GERP:0.641257425742574 GeneName:LINC00599; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253230; TranscriptID:ENST00000517675; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR124-1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000284321; TranscriptID:ENST00000385275; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000847381; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002713 29186852 miR-196a-2 rs11614913 T Dominant Fn-bmd (n = 32,735), ls-bmd (n = 28,498) and fa-bmd (n = 8143) EFO_0003882 N/A Increasing risk Osteoporosis rs11614913-T of miR-196a-2 and its dysfunction is significantly associated with the increasing risk of osteoporosis by using genome-wide association analysis in FN-BMD (n = 32,735), LS-BMD (n = 28,498) and FA-BMD (n = 8143). 0.4 Genetic Polymorphism of miR-196a-2 is Associated with Bone Mineral Density (BMD).LID - E2529 [pii]LID - 10.3390/ijms18122529 [doi]AB - MicroRNAs (miRNAs) are small non-coding RNA molecules that post-transcriptionally regulate the translation of genome-wide association analysis hsa-mir-196a-2 miRNA Osteoporosis 0.33 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002714 26956414 NONHSAT170965.1 rs2052702 A N/A 3,100 european ancestry cases//7,667 european ancestry controls; 1,958 cases// 5,530 controls EFO_0000095 N/A Associate Chronic lymphocytic leukemia rs2052702-A of NONHSAT170965.1 is significantly associated with the chronic lymphocytic leukemia by using GWAS analysis in 3,100 european ancestry cases//7,667 european ancestry controls; 1,958 cases// 5,530 controls(p-value = 4E-18 ;OR = 1.3157895). 0.4 Meta-analysis of genome-wide association studies discovers multiple loci for chronic lymphocytic leukemia. genome-wide association analysis NONHSAT170965.1 lncRNA Chronic lymphocytic leukemia 0.33 AAAAAGTAAA(A > C,T)GATTGGCATT chr15: 69697166 0.3151,0.6849,. 0.32038417431192660,0.67943265800203873,0.00018316768603465 Region score:0.45; TSS score:0.53; Unmatched score:0.48; Average GERP:0.815655 GeneName:DRAIC; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000245750; TranscriptID:ENST00000558941; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000519972; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002715 23535730 NONHSAT185940.1 rs2072590 ? N/A 3,769 european ancestry cases//4,396 european ancestry controls; 211 east asian ancestry cases//972 east asian ancestry controls//39,674 european ancestry individuals//106 malaysian ancestry cases//106 malaysian ancestry controls EFO_0001075 N/A Associate Ovarian cancer rs2072590-? of NONHSAT185940.1 is significantly associated with the ovarian cancer by using GWAS analysis in 3,769 european ancestry cases//4,396 european ancestry controls; 211 east asian ancestry cases//972 east asian ancestry controls//39,674 european ancestry individuals//106 malaysian ancestry cases//106 malaysian ancestry controls(p-value = 3E-10 ;OR = 1.13). 0.4 GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer. genome-wide association analysis NONHSAT185940.1 lncRNA Ovarian cancer 0.451 AGCTCTAGGG(A > C,T)GCTGGTACCA chr2: 176177905 0.1825,0.8175,. 0.23644559123343527,0.76353051732925586,0.00002389143730886 Region score:0.34; TSS score:0.4; Unmatched score:0.86; Average GERP:-0.862604950495049 GeneName:AC009336.2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000278500; TranscriptID:ENST00000468418; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HAGLR; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000224189; TranscriptID:ENST00000452365; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HAGLROS; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000226363; TranscriptID:ENST00000426615; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXD3; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000128652; TranscriptID:ENST00000410016; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000629037; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000629041; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002715 20852632 NONHSAT185940.1 rs2072590 T N/A 1,768 european ancestry cases//2,354 european ancestry controls; 8,709 european ancestry cases//51,764 european ancestry controls EFO_0001075 N/A Associate Ovarian cancer rs2072590-T of NONHSAT185940.1 is significantly associated with the ovarian cancer by using GWAS analysis in 1,768 european ancestry cases//2,354 european ancestry controls; 8,709 european ancestry cases//51,764 european ancestry controls(p-value = 5E-14 ;OR = 1.16). 0.4 A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24. genome-wide association analysis NONHSAT185940.1 lncRNA Ovarian cancer 0.451 AGCTCTAGGG(A > C,T)GCTGGTACCA chr2: 176177905 0.1825,0.8175,. 0.23644559123343527,0.76353051732925586,0.00002389143730886 Region score:0.34; TSS score:0.4; Unmatched score:0.86; Average GERP:-0.862604950495049 GeneName:AC009336.2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000278500; TranscriptID:ENST00000468418; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HAGLR; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000224189; TranscriptID:ENST00000452365; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HAGLROS; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000226363; TranscriptID:ENST00000426615; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXD3; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000128652; TranscriptID:ENST00000410016; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000629037; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000629041; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002716 19214202 ANRIL rs1333048 ? Dominant 2201 chd cases, and 1472 controls EFO_0001645 N/A Increasing risk Coronary heart disease rs1333048-? of ANRIL and its dysfunction is significantly associated with the increasing risk of coronary heart disease by using case-control analysis in 2201 CHD cases, and 1472 controls. 0.4 Identification of a shared genetic susceptibility locus for coronary heart disease and periodontitis. case-control analysis ANRIL lncRNA Coronary heart disease 0.33 GGAGATGTTT(A > C)AATGTCGAAT chr9: 22125348 0.5579,0.4421 0.55785709734964322,0.44214290265035677 Region score:0.23; TSS score:0.38; Unmatched score:0.26; Average GERP:-0.30606930693069295 GeneName:CDKN2B-AS1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000240498; TranscriptID:ENST00000428597; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000877606; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002717 28240269 NONHSAT176909.1 rs9904601 A N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0008046 N/A Associate Blood protein levels rs9904601-A of NONHSAT176909.1 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 2E-43 ;OR = 0.8634). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. genome-wide association analysis NONHSAT176909.1 lncRNA C-c motif chemokine 18 measurement 0.33 GTCCCCATTC(G > A,T)ATCATTTTAA chr17: 36044969 N/A 0.86010767074413863,0.12454606269113149,0.01534626656472986 Region score:0.41; TSS score:0.25; Unmatched score:0.04; Average GERP:-0.427534693877551 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000554278; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002718 24324551 NONHSAT011516.2 rs56161216 ? N/A 580 brazilian ancestry individuals EFO_0005528 N/A Associate Parasitemia in tripanosoma cruzi seropositivity rs56161216-? of NONHSAT011516.2 is significantly associated with the parasitemia in tripanosoma cruzi seropositivity by using GWAS analysis in 580 brazilian ancestry individuals(p-value = 6E-6 ;OR = ?). 0.4 Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects. genome-wide association analysis NONHSAT011516.2 lncRNA Parasitemia measurement 0.33 AGGGGGAGGG(A > G)ATGCGGAGAC chr10: 13646798 0.9231,0.07688 0.94916698521916411,0.05083301478083588 Region score:0.42; TSS score:0.47; Unmatched score:0.77; Average GERP:3.4453366336633664 GeneName:AL157392.3; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000239665; TranscriptID:ENST00000610032; AnnoType:DOWNSTREAM; mirSVR-Score:-0.1956; mirSVR-E:-30.10 | GeneName:AL157392.5; CADD-Score:2; Consquence:intron; GeneID:ENSG00000282246; TranscriptID:ENST00000601460; AnnoType:INTRONIC; mirSVR-Score:-0.1956; mirSVR-E:-30.10 | GeneName:FRMD4A; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000151474; TranscriptID:ENST00000357447; AnnoType:3PRIME_UTR; mirSVR-Score:-0.1956; mirSVR-E:-30.10 | NCRV0000002719 27863252 NONHSAT197521.1 rs6782812 A N/A 171,846 european ancestry individuals EFO_0005090 N/A Associate White blood cell count (basophil) rs6782812-A of NONHSAT197521.1 is significantly associated with the white blood cell count (basophil) by using GWAS analysis in 171,846 european ancestry individuals(p-value = 1E-96 ;OR = 0.1181745). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT197521.1 lncRNA Basophil count 0.451 GGCACTGCCC(G > A)GAAGCTTCCC chr3: 128599154 0.1737,0.8263 0.12586805555555555,0.87413194444444444 Region score:0.31; TSS score:0.21; Unmatched score:0.13; Average GERP:-0.4789628712871288 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002719 28158719 NONHSAT197521.1 rs6782812 G N/A up to 11,809 hispanic/latino american individuals; up to 7,200 hispanic/latino american individuals EFO_0005090 N/A Associate White blood cell count (basophil) rs6782812-G of NONHSAT197521.1 is significantly associated with the white blood cell count (basophil) by using GWAS analysis in up to 11,809 hispanic/latino american individuals; up to 7,200 hispanic/latino american individuals(p-value = 1E-26 ;OR = 0.0671). 0.4 Genome-wide association of white blood cell counts in Hispanic/Latino Americans: the Hispanic Community Health Study/Study of Latinos. genome-wide association analysis NONHSAT197521.1 lncRNA Basophil count 0.451 GGCACTGCCC(G > A)GAAGCTTCCC chr3: 128599154 0.1737,0.8263 0.12586805555555555,0.87413194444444444 Region score:0.31; TSS score:0.21; Unmatched score:0.13; Average GERP:-0.4789628712871288 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002720 28691018 miR-10b rs4972806 G N/A 1,064 breast cancer cases and 1,073 cancer-free controls EFO_0000305 N/A no significance for risk breast carcinoma rs4972806-G of hsa-mir-10b and its dysfunction is not significantly associated with Breast carcinoma by using case-control analysis in 1,064 breast cancer cases and 1,073 cancer-free controls -0.4 Genetic Variants in the Promoter Region of miR-10b and the Risk of Breast Cancer. case-control analysis hsa-mir-10b miRNA Breast carcinoma -0.33 ATCGAGGTCC(C > T)GGAAAGCTTT chr2: 176147850 0.4042,0.5958 0.51155549184505606,0.48844450815494393 Region score:0.32; TSS score:0.38; Unmatched score:0.49; Average GERP:-0.43109306930693053 GeneName:AC009336.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000278500; TranscriptID:ENST00000468418; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXD3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000128652; TranscriptID:ENST00000432796; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXD4; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000170166; TranscriptID:ENST00000306324; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR10B; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207744; TranscriptID:ENST00000385011; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002721 27182965 NONHSAT157380.1 rs10748781 ? N/A 17,558 european ancestry cases//117,083 european ancestry controls EFO_0004705 N/A Associate Hypothyroidism rs10748781-? of NONHSAT157380.1 is significantly associated with the hypothyroidism by using GWAS analysis in 17,558 european ancestry cases//117,083 european ancestry controls(p-value = 1E-10 ;OR = 1.088). 0.4 Detection and interpretation of shared genetic influences on 42 human traits. genome-wide association analysis NONHSAT157380.1 lncRNA Hypothyroidism 0.33 GGCAGCTTCC(C > A,G)GTCAATCCTG chr10: 99523573 0.2728,0.7272,. 0.32628535932721712,0.67371464067278287,. Region score:0.44; TSS score:0.61; Unmatched score:0.68; Average GERP:0.558362376237624 GeneName:AL513542.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000228778; TranscriptID:ENST00000452494; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LINC01475; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000257582; TranscriptID:ENST00000548010; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000413526; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002722 28598419 NONHSAT214786.1 rs1558001 T N/A 461 african american spontaneous preterm birth mothers//1,035 african american term birth mothers EFO_0006917 N/A Associate Spontaneous preterm birth (maternal effect) rs1558001-T of NONHSAT214786.1 is significantly associated with the spontaneous preterm birth (maternal effect) by using GWAS analysis in 461 african american spontaneous preterm birth mothers//1,035 african american term birth mothers(p-value = 3E-8 ;OR = 1.7). 0.4 Genome-wide approach identifies a novel gene-maternal pre-pregnancy BMI interaction on preterm birth. genome-wide association analysis NONHSAT214786.1 lncRNA Spontaneous preterm birth 0.33 ATGAAGTATG(T > C)TGCCCAATGC chr7: 81777764 0.3484,0.6516 0.36326134046890927,0.63673865953109072 Region score:0.42; TSS score:0.27; Unmatched score:0.12; Average GERP:-0.017555445544554394 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002723 22504420 NONHSAT174674.1 rs10048146 A N/A up to 32,961 european and east asian ancestry individuals; up to 50,933 european and east asian ancestry individuals EFO_0003923 N/A Associate Bone mineral density rs10048146-A of NONHSAT174674.1 is significantly associated with the bone mineral density by using GWAS analysis in up to 32,961 european and east asian ancestry individuals; up to 50,933 european and east asian ancestry individuals(p-value = 1E-14 ;OR = 0.05). 0.4 Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. genome-wide association analysis NONHSAT174674.1 lncRNA Bone density 0.33 GGGCTCTTTC(A > G)TTTTGGAGAC chr16: 86677054 0.8393,0.1607 0.82807721712538226,0.17192278287461773 Region score:0.36; TSS score:0.37; Unmatched score:0.2; Average GERP:-0.3806782178217822 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000545172; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002724 26625766 miR-196a rs11614913 C Recessive 100 oral squamous cell carcinoma patients and 102 healthy controls in South Indian Population EFO_0000199 N/A increasing risk oral squamous cell carcinoma rs11614913-C of hsa-mir-196a-2 and its dysfunction is significantly associated with the increasing risk of Oral squamous cell carcinoma by using case-control analysis in 100 oral squamous cell carcinoma patients and 102 healthy controls in South Indian Population 0.4 Genetic Variation in MicroRNAs and Risk of Oral Squamous Cell Carcinoma in South Indian Population. case-control analysis hsa-mir-196a-2 miRNA Oral squamous cell carcinoma 0.33 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002725 19514064 mir-149 rs2292832 C N/A 1,324 CHD cases and 1,783 non-CHD controls EFO_0005207 N/A no significance for risk congenital heart disease rs2292832-C of hsa-mir-149 and its dysfunction is not significantly associated with Congenital heart disease by using case-control analysis in 1,324 CHD cases and 1,783 non-CHD controls -0.4 Functional variant in microRNA-196a2 contributes to the susceptibility of congenital heart disease in a Chinese population. case-control analysis hsa-mir-149 miRNA Congenital heart disease -0.33 CTGGGGCAGC(T > A,C)GGAACAACGC chr2: 240456086 0.3866,.,0.6134 0.31987449031600407,0.00025484199796126,0.67987066768603465 Region score:0.3; TSS score:0.39; Unmatched score:0.89; Average GERP:1.5002722772277222 GeneName:AC110619.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000218416; TranscriptID:ENST00000404891; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GPC1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000063660; TranscriptID:ENST00000264039; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR149; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207611; TranscriptID:ENST00000384879; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000133146; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002726 28736931 NONHSAT171396.1 rs76043556 ? N/A 781 european ancestry individuals//138 african american ancestry individuals//345 unknown ancestry individuals; EFO_0001360 fenofibrate Associate Total cholesterol change in response to fenofibrate in statin-treated type 2 diabetes rs76043556-? of NONHSAT171396.1 is significantly associated with the total cholesterol change in response to fenofibrate in statin-treated type 2 diabetes by using GWAS analysis in 781 european ancestry individuals//138 african american ancestry individuals//345 unknown ancestry individuals; (p-value = 7E-7 ;OR = 0.058). 0.4 Genetic Variants in HSD17B3, SMAD3, and IPO11 Impact Circulating Lipids in Response to Fenofibrate in Individuals With Type 2 Diabetes. genome-wide association analysis NONHSAT171396.1 lncRNA Type ii diabetes mellitus 0.33 TTTAAAAGCA(A > G)AAGTCTGCTG chr15: 30060226 0.976,0.02396 0.97735091743119266,0.02264908256880733 Region score:0.43; TSS score:0.3; Unmatched score:0.16; Average GERP:-0.09931752475247523 GeneName:AC111152.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000229389; TranscriptID:ENST00000421447; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002727 25760438 NONHSAT211028.1 rs149358103 ? N/A 89 martu australian aboriginal ancestry cases//302 martu australian aboriginal ancestry controls EFO_0001360 N/A Associate Type 2 diabetes rs149358103-? of NONHSAT211028.1 is significantly associated with the type 2 diabetes by using GWAS analysis in 89 martu australian aboriginal ancestry cases//302 martu australian aboriginal ancestry controls(p-value = 5E-6 ;OR = 0.58). 0.4 First genome-wide association study in an Australian aboriginal population provides insights into genetic risk factors for body mass index and type 2 diabetes. genome-wide association analysis NONHSAT211028.1 lncRNA Type ii diabetes mellitus 0.33 TGTACTAGAC(A > T)TTAGGGTATC chr6: 113586847 0.9996,0.0003994 0.99995221712538226,0.00004778287461773 Region score:0.49; TSS score:0.34; Unmatched score:0.26; Average GERP:0.693731683168317 GeneName:RPS27AP11; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000218208; TranscriptID:ENST00000402798; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002728 26152337 hsa-mir-943 rs1077020 C N/A 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A no significance for risk hepatocellular carcinoma rs1077020-C of hsa-mir-943 and its dysfunction is not significantly associated with Hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors -0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. case-control analysis hsa-mir-943 miRNA Hepatocellular carcinoma -0.33 CACCCCGAGC(T > C)CAGAACGTCC chr4: 1986466 0.7496,0.2504 0.72861716360856269,0.27138283639143730 Region score:0.38; TSS score:0.16; Unmatched score:0.51; Average GERP:-1.1319891089108913 GeneName:MIR943; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000284587; TranscriptID:ENST00000401286; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NELFA; CADD-Score:2; Consquence:intron; GeneID:ENSG00000185049; TranscriptID:ENST00000382882; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NSD2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000109685; TranscriptID:ENST00000382895; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002729 25557604 miR-196a2 rs11614913 T N/A 17 cardiometabolic traits/diseases EFO_0001073 N/A increasing risk obesity rs11614913-T of hsa-mir-196a-2 and its dysfunction is significantly associated with the increasing risk of Obesity by using analysis of sequence variation in 17 cardiometabolic traits/diseases 0.4 The association of common polymorphisms in miR-196a2 with waist to hip ratio and miR-1908 with serum lipid and glucose. analysis of sequence variation hsa-mir-196a-2 miRNA Obesity 0.33 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002730 23263486 NONHSAT130710.2 rs10813960 T N/A 49,825 european ancestry males//60,522 european ancestry females; up to 32,813 european ancestry individuals EFO_0004531 N/A Associate Urate levels rs10813960-T of NONHSAT130710.2 is significantly associated with the urate levels by using GWAS analysis in 49,825 european ancestry males//60,522 european ancestry females; up to 32,813 european ancestry individuals(p-value = 4E-7 ;OR = 0.03). 0.4 Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. genome-wide association analysis NONHSAT130710.2 lncRNA Urate measurement 0.33 CCATCATCTC(C > T)GCAATTTCCA chr9: 33180364 0.7045,0.2955 0.75123439092762487,0.24876560907237512 Region score:0.26; TSS score:0.4; Unmatched score:0.32; Average GERP:-0.08391386138613854 GeneName:B4GALT1-AS1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000233554; TranscriptID:ENST00000442432; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002731 22589738 NONHSAT216037.1 rs16909318 C N/A 5,560 european ancestry female individuals//4,997 european ancestry male individuals EFO_0004765 N/A Associate Visceral fat rs16909318-C of NONHSAT216037.1 is significantly associated with the visceral fat by using GWAS analysis in 5,560 european ancestry female individuals//4,997 european ancestry male individuals(p-value = 7E-7 ;OR = ?). 0.4 Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. genome-wide association analysis NONHSAT216037.1 lncRNA Visceral adipose tissue measurement 0.33 CACTACAATT(C > A)CCAGGATTTT chr8: 81532989 0.9217,0.07827 0.91051860346585117,0.08948139653414882 Region score:0.5; TSS score:0.3; Unmatched score:0.62; Average GERP:0.07589207920792072 GeneName:AC023644.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253374; TranscriptID:ENST00000523380; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:FABP12; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000197416; TranscriptID:ENST00000360464; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002732 28240269 NONHSAT008975.2 rs3795559 A N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0008100 N/A Associate Blood protein levels rs3795559-A of NONHSAT008975.2 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 8E-13 ;OR = 0.7153). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. genome-wide association analysis NONHSAT008975.2 lncRNA Contactin-2 measurement 0.33 GGGGCTAGTG(C > A)CAGAGAATCC chr1: 205020783 0.9347,0.0653 0.94359231651376146,0.05640768348623853 Region score:0.57; TSS score:0.78; Unmatched score:0.74; Average GERP:-1.1696009900990099 GeneName:NFASC; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000163531; TranscriptID:ENST00000339876; AnnoType:3PRIME_UTR; mirSVR-Score:-0.0041; mirSVR-E:-18.53 | NCRV0000002733 26967389 HOTAIR rs7958904 C N/a 900 os cases and 900 controls in chinese population EFO_0000637 N/A Decreasing risk Osteosarcoma rs7958904-C of HOTAIR and its dysfunction is significantly associated with the decreasing risk of osteosarcoma by using case-control analysis in 900 OS cases and 900 controls in chinese population. 0.4 Genetic variants of lncRNA HOTAIR contribute to the risk of osteosarcoma. case-control analysis HOTAIR lncRNA Osteosarcoma 0.33 GTGGCTGACC(C > A,G)GAGCCGGGTG chr12: 53963768 0.4836,.,0.5164 0.48098241590214067,0.00000796381243628,0.51900962028542303 Region score:0.38; TSS score:0.62; Unmatched score:0.8; Average GERP:-1.4319297029702964 GeneName:AC012531.4; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000274817; TranscriptID:ENST00000616509; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC012531.5; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277129; TranscriptID:ENST00000611375; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOTAIR; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000228630; TranscriptID:ENST00000424518; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC12; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000123407; TranscriptID:ENST00000243103; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000458642; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01905; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000275589; TranscriptID:ENST00000611210; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01906; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277994; TranscriptID:ENST00000611352; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002734 26192919 NONHSAT154192.1 rs10800309 ? N/A 12,882 european ancestry cases//21,770 european ancestry controls; 25,273 european ancestry cases//26,715 european ancestry controls//548 iranian ancestry cases//342 iranian ancestry control//1,423 indian ancestry cases//990 indian ancestry controls//2,824 east asian ancestry cases//3,719 east asian ancestry controls EFO_0003767 N/A Associate Inflammatory bowel disease rs10800309-? of NONHSAT154192.1 is significantly associated with the inflammatory bowel disease by using GWAS analysis in 12,882 european ancestry cases//21,770 european ancestry controls; 25,273 european ancestry cases//26,715 european ancestry controls//548 iranian ancestry cases//342 iranian ancestry control//1,423 indian ancestry cases//990 indian ancestry controls//2,824 east asian ancestry cases//3,719 east asian ancestry controls(p-value = 6E-37 ;OR = ?). 0.4 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. genome-wide association analysis NONHSAT154192.1 lncRNA Inflammatory bowel disease 0.33 CTGTTTCAAT(A > G,T)GTAAATCCCT chr1: 161502368 0.4391,0.5609,. 0.33866112385321100,0.65824891692150866,0.00308995922528032 Region score:0.44; TSS score:0.59; Unmatched score:0.44; Average GERP:-0.05181881188118816 GeneName:FCGR2A; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000143226; TranscriptID:ENST00000271450; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002735 23382691 NONHSAT148208.1 rs11260603 C N/A 2,247 european ancestry individuals EFO_0002690 N/A Associate Igg glycosylation rs11260603-C of NONHSAT148208.1 is significantly associated with the igg glycosylation by using GWAS analysis in 2,247 european ancestry individuals(p-value = 4E-7 ;OR = 0.2608). 0.4 Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. genome-wide association analysis NONHSAT148208.1 lncRNA Systemic lupus erythematosus 0.33 CCCTGGATCG(T > C)GTGTGTGACC chr1: 1143818 0.6965,0.3035 0.67210595056065239,0.32789404943934760 Region score:0.35; TSS score:0.55; Unmatched score:0.49; Average GERP:-1.072169306930693 GeneName:LINC01342; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000223823; TranscriptID:ENST00000416774; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0520; mirSVR-E:-11.30 | NCRV0000002736 26973201 miR-608 rs4919510 C N/A 575 patients with lung cancer and 608 healthy controls EFO_0001071 N/A no significance for risk lung carcinoma rs4919510-C of hsa-mir-608 and its dysfunction is not significantly associated with Lung carcinoma by using case-control analysis in 575 patients with lung cancer and 608 healthy controls -0.4 Association between polymorphisms in pre-miRNA genes and risk of lung cancer in a Chinese non-smoking female population. case-control analysis hsa-mir-608 miRNA Lung carcinoma -0.451 TGGGACAGCT(C > G)CGTTTAAAAA chr10: 100975021 0.6362,0.3638 0.70305332568807339,0.29694667431192660 Region score:0.54; TSS score:0.1; Unmatched score:0.51; Average GERP:-0.18896138613861369 GeneName:MIR608; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207551; TranscriptID:ENST00000384820; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MRPL43; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000055950; TranscriptID:ENST00000318325; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SEMA4G; CADD-Score:2; Consquence:intron; GeneID:ENSG00000095539; TranscriptID:ENST00000210633; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002736 25614447 hsa-mir-608 rs4919510 G N/a 576 patients with lung cancer in a southern chinese population, and the significant results were validated in two additional cohorts of 346 and 368 patients, respectively EFO_0001071 N/A No significance for risk Lung cancer rs4919510-G of hsa-mir-608 and its dysfunction is not significantly associated with Lung Cancer by using case-control analysis in 576 patients with lung cancer in a southern Chinese population, and the significant results were validated in two additional cohorts of 346 and 368 patients, respectively. -0.4 Sequence Variation in Mature MicroRNA-499 Confers Unfavorable Prognosis of Lung Cancer Patients Treated with Platinum-Based Chemotherapy. case-control analysis hsa-mir-608 miRNA Lung cancer -0.451 TGGGACAGCT(C > G)CGTTTAAAAA chr10: 100975021 0.6362,0.3638 0.70305332568807339,0.29694667431192660 Region score:0.54; TSS score:0.1; Unmatched score:0.51; Average GERP:-0.18896138613861369 GeneName:MIR608; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207551; TranscriptID:ENST00000384820; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MRPL43; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000055950; TranscriptID:ENST00000318325; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SEMA4G; CADD-Score:2; Consquence:intron; GeneID:ENSG00000095539; TranscriptID:ENST00000210633; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002737 24102488 hsa-mir-499 rs3746444 C recessive autoimmune diseases EFO_0005140 N/A decreasing risk autoimmune diseases rs3746444-C of hsa-mir-499a and its dysfunction is significantly associated with the decreasing risk of Autoimmune disease by using meta-analysis in autoimmune diseases 0.4 Meta-analysis of pre-miRNA polymorphisms association with susceptibility to autoimmune diseases. meta-analysis hsa-mir-499a miRNA Autoimmune disease 0.33 CCACGTGAAC(A > G)TCACAGCAAG chr20: 34990448 0.8165,0.1835 0.81708715596330275,0.18291284403669724 Region score:0.79; TSS score:0.85; Unmatched score:0.95; Average GERP:3.757564356435645 GeneName:MIR499A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207635; TranscriptID:ENST00000384903; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR499B; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283441; TranscriptID:ENST00000636498; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYH7B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000078814; TranscriptID:ENST00000262873; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002738 26198764 NONHSAT192447.1 rs2072883 A N/A 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls EFO_0000692 N/A Associate Schizophrenia rs2072883-A of NONHSAT192447.1 is significantly associated with the schizophrenia by using GWAS analysis in 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls(p-value = 6E-6 ;OR = 1.05). 0.4 Genome-wide association study of schizophrenia in Ashkenazi Jews. genome-wide association analysis NONHSAT192447.1 lncRNA Schizophrenia 0.33 AAGTGCCTTC(G > A,C)TTTATTTACA chr22: 43039662 0.2354,0.7646,. 0.24248216106014271,0.72091615698267074,0.03660168195718654 Region score:0.42; TSS score:0.58; Unmatched score:0.86; Average GERP:-0.1255910891089109 GeneName:AL022476.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000230319; TranscriptID:ENST00000443063; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.5521; mirSVR-E:-19.81 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000673249; AnnoType:REGULATORY; mirSVR-Score:-0.5521; mirSVR-E:-19.81 | GeneName:TTLL1; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000100271; TranscriptID:ENST00000266254; AnnoType:3PRIME_UTR; mirSVR-Score:-0.5521; mirSVR-E:-19.81 | NCRV0000002739 24475105 miR-101 rs705509 A N/A 1064 breast cancer cases and 1073 cancer-free controls EFO_0000305 N/A no significance for risk breast carcinoma rs705509-A of hsa-mir-101-1 and its dysfunction is not significantly associated with Breast carcinoma by using case-control analysis in 1064 breast cancer cases and 1073 cancer-free controls -0.4 Genetic variations in the flanking regions of miR-101-2 are associated with increased risk of breast cancer. case-control analysis hsa-mir-101-1 miRNA Breast carcinoma -0.33 GATTGCGGAG(A > G)GGACTAACTA chr1: 65066068 0.5405,0.4595 0.60999617737003058,0.39000382262996941 Region score:0.37; TSS score:0.69; Unmatched score:0.8; Average GERP:0.2314552475247523 GeneName:AL357078.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000231485; TranscriptID:ENST00000448344; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000007928; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002740 27863252 NONHSAT053664.2 rs4796622 G N/A 170,763 european ancestry individuals EFO_0007986 N/A Associate High light scatter reticulocyte percentage of red cells rs4796622-G of NONHSAT053664.2 is significantly associated with the high light scatter reticulocyte percentage of red cells by using GWAS analysis in 170,763 european ancestry individuals(p-value = 1E-17 ;OR = 0.05538642). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT053664.2 lncRNA Reticulocyte count 0.33 TGAGGCAGGC(A > G)GATCACTTGA chr17: 41921971 0.1024,0.8976 0.12166316258919469,0.87833683741080530 Region score:0.23; TSS score:0.14; Unmatched score:0.12; Average GERP:0.09306451612903234 GeneName:ACLY; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000131473; TranscriptID:ENST00000352035; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002741 25640751 HOTAIR rs920778 T Dominant 800 gastric cancer patients and 1600 controls EFO_0000178 N/A Increasing risk Gastric cancer rs920778-T of HOTAIR and its dysfunction is significantly associated with the increasing risk of gastric cancer by using case-control analysis in 800 gastric cancer patients and 1600 controls. By using the disease cell lines or tissues, the mutation of HOTAIR has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 A functional lncRNA HOTAIR genetic variant contributes to gastric cancer susceptibility. case-control analysis; Function HOTAIR lncRNA Gastric cancer 0.393 TGAATGTTAC(G > A)GTTTCCTTCA chr12: 53966448 0.4401,0.5599 0.43194922273190621,0.56805077726809378 Region score:0.25; TSS score:0.53; Unmatched score:0.76; Average GERP:2.310435643564358 GeneName:AC012531.4; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000274817; TranscriptID:ENST00000616509; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC012531.5; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277129; TranscriptID:ENST00000611375; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOTAIR; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000228630; TranscriptID:ENST00000424518; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000458643; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01905; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000275589; TranscriptID:ENST00000611210; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01906; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000277994; TranscriptID:ENST00000611352; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002741 25980897 HOTAIR rs920778 T N/a 104 gastric cancer cases and 209 age and sex matched healthy controls in a turkish population EFO_0000178 N/A No significance for risk Gastric cancer rs920778-T of HOTAIR and its dysfunction is not significantly associated with gastric cancer by using case-control analysis in 104 gastric cancer cases and 209 age and sex matched healthy controls in a Turkish population. -0.4 A functional HOTAIR rs920778 polymorphism does not contributes to gastric cancer in a Turkish population: a case-control study. case-control analysis HOTAIR lncRNA Gastric cancer 0.393 TGAATGTTAC(G > A)GTTTCCTTCA chr12: 53966448 0.4401,0.5599 0.43194922273190621,0.56805077726809378 Region score:0.25; TSS score:0.53; Unmatched score:0.76; Average GERP:2.310435643564358 GeneName:AC012531.4; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000274817; TranscriptID:ENST00000616509; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC012531.5; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277129; TranscriptID:ENST00000611375; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOTAIR; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000228630; TranscriptID:ENST00000424518; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000458643; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01905; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000275589; TranscriptID:ENST00000611210; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01906; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000277994; TranscriptID:ENST00000611352; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002742 24816252 NONHSAT212075.1 rs7809234 A N/A up to 5,591 european ancestry individuals; up to 1,767 european ancestry individuals EFO_0005664 N/A Associate Blood metabolite ratios rs7809234-A of NONHSAT212075.1 is significantly associated with the blood metabolite ratios by using GWAS analysis in up to 5,591 european ancestry individuals; up to 1,767 european ancestry individuals(p-value = 6E-14 ;OR = 0.049). 0.4 An atlas of genetic influences on human blood metabolites. genome-wide association analysis NONHSAT212075.1 lncRNA Blood metabolite measurement 0.33 CCACTGCCTG(A > T)CATTTAGCCA chr7: 50542681 0.9123,0.08766 0.90164691641182466,0.09835308358817533 Region score:0.23; TSS score:0.12; Unmatched score:0.34; Average GERP:-0.35479702970297045 GeneName:DDC-AS1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000226122; TranscriptID:ENST00000454521; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:DDC; CADD-Score:2; Consquence:intron; GeneID:ENSG00000132437; TranscriptID:ENST00000444124; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:FIGNL1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000132436; TranscriptID:ENST00000613602; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002743 29059683 NONHSAT063070.2 rs2304098 C N/A 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls EFO_0000305 N/A Associate Breast cancer rs2304098-C of NONHSAT063070.2 is significantly associated with the breast cancer by using GWAS analysis in 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls(p-value = 2E-11 ;OR = 0.0434). 0.4 Association analysis identifies 65 new breast cancer risk loci. genome-wide association analysis NONHSAT063070.2 lncRNA Breast cancer 0.33 CAGCGCTGGG(T > C)GGCAAGCAAG chr19: 19535463 0.5264,0.4736 0.56312117737003058,0.43687882262996941 Region score:0.36; TSS score:0.25; Unmatched score:0.36; Average GERP:-0.13440000000000038 GeneName:AC011448.1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000258674; TranscriptID:ENST00000555938; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CILP2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000160161; TranscriptID:ENST00000291495; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:YJEFN3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000250067; TranscriptID:ENST00000514277; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002744 19767753 NONHSAT217969.1 rs1512268 ? N/A 1,854 european ancestry cases//1,894 european ancestry controls; 19,879 cases and 18,761 controls of european//east asian//african american//latino//and hawaiian ancestry EFO_0001663 N/A Associate Prostate cancer rs1512268-? of NONHSAT217969.1 is significantly associated with the prostate cancer by using GWAS analysis in 1,854 european ancestry cases//1,894 european ancestry controls; 19,879 cases and 18,761 controls of european//east asian//african american//latino//and hawaiian ancestry(p-value = 3E-30 ;OR = 1.18). 0.4 Identification of seven new prostate cancer susceptibility loci through a genome-wide association study. genome-wide association analysis NONHSAT217969.1 lncRNA Prostate cancer 0.599 TTCTGTAGAT(T > C)GTGCAAATTT chr8: 23668950 0.4868,0.5132 0.48543418705402650,0.51456581294597349 Region score:0.48; TSS score:0.44; Unmatched score:0.31; Average GERP:0.4067148514851485 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000850117; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002744 26443449 NONHSAT217969.1 rs1512268 T N/A 3,000 east asian ancestry cases//4,394 east asian ancestry controls; 3,605 east asian ancestry cases//3,919 east asian ancestry controls EFO_0001663 N/A Associate Prostate cancer rs1512268-T of NONHSAT217969.1 is significantly associated with the prostate cancer by using GWAS analysis in 3,000 east asian ancestry cases//4,394 east asian ancestry controls; 3,605 east asian ancestry cases//3,919 east asian ancestry controls(p-value = 1E-13 ;OR = 1.3157895). 0.4 Large-scale association analysis in Asians identifies new susceptibility loci for prostate cancer. genome-wide association analysis NONHSAT217969.1 lncRNA Prostate cancer 0.599 TTCTGTAGAT(T > C)GTGCAAATTT chr8: 23668950 0.4868,0.5132 0.48543418705402650,0.51456581294597349 Region score:0.48; TSS score:0.44; Unmatched score:0.31; Average GERP:0.4067148514851485 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000850117; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002744 22923026 NONHSAT217969.1 rs1512268 T N/A 1,033 japanese ancestry cases//1,042 japanese ancestry controls//1,043 latino cases//1,057 latino controls; 1,583 japanese ancestry cases//3,386 japanese ancestry controls//1,854 european ancestry cases//3,748 european ancestry controls EFO_0001663 N/A Associate Prostate cancer rs1512268-T of NONHSAT217969.1 is significantly associated with the prostate cancer by using GWAS analysis in 1,033 japanese ancestry cases//1,042 japanese ancestry controls//1,043 latino cases//1,057 latino controls; 1,583 japanese ancestry cases//3,386 japanese ancestry controls//1,854 european ancestry cases//3,748 european ancestry controls(p-value = 5E-6 ;OR = 1.35). 0.4 Evaluating genetic risk for prostate cancer among Japanese and Latinos. genome-wide association analysis NONHSAT217969.1 lncRNA Prostate cancer 0.599 TTCTGTAGAT(T > C)GTGCAAATTT chr8: 23668950 0.4868,0.5132 0.48543418705402650,0.51456581294597349 Region score:0.48; TSS score:0.44; Unmatched score:0.31; Average GERP:0.4067148514851485 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000850117; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002744 20676098 NONHSAT217969.1 rs1512268 ? N/A 1,583 japanese ancestry cases//3,386 japanese ancestry controls; 3,001 japanese ancestry cases//5,415 japanese ancestry controls EFO_0001663 N/A Associate Prostate cancer rs1512268-? of NONHSAT217969.1 is significantly associated with the prostate cancer by using GWAS analysis in 1,583 japanese ancestry cases//3,386 japanese ancestry controls; 3,001 japanese ancestry cases//5,415 japanese ancestry controls(p-value = 4E-11 ;OR = ?). 0.4 Genome-wide association study identifies five new susceptibility loci for prostate cancer in the Japanese population. genome-wide association analysis NONHSAT217969.1 lncRNA Prostate cancer 0.599 TTCTGTAGAT(T > C)GTGCAAATTT chr8: 23668950 0.4868,0.5132 0.48543418705402650,0.51456581294597349 Region score:0.48; TSS score:0.44; Unmatched score:0.31; Average GERP:0.4067148514851485 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000850117; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002744 26034056 NONHSAT217969.1 rs1512268 A N/A 6,406 european ancestry cases//601 african american cases//288 east asian ancestry cases//488 latino cases30,866 european ancestry controls//1,650 african american controls//2,938 east asian ancestry controls//3,141 latino controls; 4,599 european ancestry cases//2,265 african american cases//2,940 european ancestry controls//2,414 african american controls EFO_0001663 N/A Associate Prostate cancer rs1512268-A of NONHSAT217969.1 is significantly associated with the prostate cancer by using GWAS analysis in 6,406 european ancestry cases//601 african american cases//288 east asian ancestry cases//488 latino cases30,866 european ancestry controls//1,650 african american controls//2,938 east asian ancestry controls//3,141 latino controls; 4,599 european ancestry cases//2,265 african american cases//2,940 european ancestry controls//2,414 african american controls(p-value = 2E-12 ;OR = 1.17). 0.4 A large multiethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences. genome-wide association analysis NONHSAT217969.1 lncRNA Prostate cancer 0.599 TTCTGTAGAT(T > C)GTGCAAATTT chr8: 23668950 0.4868,0.5132 0.48543418705402650,0.51456581294597349 Region score:0.48; TSS score:0.44; Unmatched score:0.31; Average GERP:0.4067148514851485 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000850117; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002745 27798624 NONHSAT203013.1 rs9326726 A N/A 127,919 european ancestry individuals//2,478 asian ancestry individuals//1,734 black individuals//684 mixed ancestry individuals//1,436 individuals; 130,795 european ancestry individuals EFO_0003777 N/A Associate Resting heart rate rs9326726-A of NONHSAT203013.1 is significantly associated with the resting heart rate by using GWAS analysis in 127,919 european ancestry individuals//2,478 asian ancestry individuals//1,734 black individuals//684 mixed ancestry individuals//1,436 individuals; 130,795 european ancestry individuals(p-value = 4E-8 ;OR = 0.29). 0.4 Identification of genomic loci associated with resting heart rate and shared genetic predictors with all-cause mortality. genome-wide association analysis NONHSAT203013.1 lncRNA Heart disease 0.33 AAGATCAAAC(G > A)CTGACATCAG chr5: 108411746 0.1558,0.8442 0.13149050713557594,0.86850949286442405 Region score:0.24; TSS score:0.14; Unmatched score:0.02; Average GERP:-0.021360000000000108 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002746 22589738 NONHSAT219827.1 rs10992471 G N/A 5,560 european ancestry female individuals//4,997 european ancestry male individuals EFO_0004767 N/A Associate Visceral adipose tissue/subcutaneous adipose tissue ratio rs10992471-G of NONHSAT219827.1 is significantly associated with the visceral adipose tissue/subcutaneous adipose tissue ratio by using GWAS analysis in 5,560 european ancestry female individuals//4,997 european ancestry male individuals(p-value = 2E-6 ;OR = ?). 0.4 Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. genome-wide association analysis NONHSAT219827.1 lncRNA Visceral:subcutaneous adipose tissue ratio 0.33 CATATAGGAC(G > A)CTTGACTAAG chr9: 92797223 0.6252,0.3748 0.54821292048929663,0.45178707951070336 Region score:0.36; TSS score:0.28; Unmatched score:0.15; Average GERP:-0.21798019801980206 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002747 16251535 miR-29c rs150749580 T Dominant 75 patients with cll and 160 control subjects EFO_0000095 N/A Increasing risk Chronic lymphocytic leukemia rs150749580-T of miR-29c and its dysfunction is significantly associated with the increasing risk of chronic lymphocytic leukemia by using case-control analysis in 75 patients with CLL and 160 control subjects. 0.4 A MicroRNA signature associated with prognosis and progression in chronic lymphocytic leukemia. case-control analysis hsa-mir-29c miRNA Chronic lymphocytic leukemia 0.33 GTCTGCACCT(C > G,T)GACAGTCCAG chr1: 207801970 0.9964,.,0.003594 0.99417845310907237,0.00000796381243628,0.00581358307849133 Region score:0.49; TSS score:0.22; Unmatched score:0.41; Average GERP:1.0276534653465355 GeneName:MIR29B2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000284203; TranscriptID:ENST00000385055; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR29B2CHG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000203709; TranscriptID:ENST00000608023; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR29C; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284214; TranscriptID:ENST00000385231; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002748 27151647 NONHSAT206506.1 rs1363605 ? N/A 2,605 european ancestry individuals//1,233 african american individuals EFO_0003829 N/A Associate Alcohol dependence symptom count rs1363605-? of NONHSAT206506.1 is significantly associated with the alcohol dependence symptom count by using GWAS analysis in 2,605 european ancestry individuals//1,233 african american individuals(p-value = 1E-15 ;OR = 0.367). 0.4 An association study revealed substantial effects of dominance, epistasis and substance dependence co-morbidity on alcohol dependence symptom count. genome-wide association analysis NONHSAT206506.1 lncRNA Alcohol dependence 0.33 CATGATTATT(C > T)GGAATTCTTC chr5: 173590084 0.6318,0.3682 0.72924630479102956,0.27075369520897043 Region score:0.25; TSS score:0.28; Unmatched score:0.2; Average GERP:-0.6960950495049506 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002749 19207018 NONHSAT179559.1 rs2562456 ? N/A 112 european ancestry individuals EFO_0003843 N/A Associate Pain rs2562456-? of NONHSAT179559.1 is significantly associated with the pain by using GWAS analysis in 112 european ancestry individuals(p-value = 2E-10 ;OR = ?). 0.4 Genome-wide association study of acute post-surgical pain in humans. genome-wide association analysis NONHSAT179559.1 lncRNA Pain 0.33 TGGCCGATTT(C > T)TTTTCCCAAG chr19: 21483408 0.2198,0.7802 0.22759779561671763,0.77240220438328236 Region score:0.36; TSS score:0.23; Unmatched score:0.3; Average GERP:-0.09488000000000009 GeneName:AC010615.4; CADD-Score:2; Consquence:intron,NMD; GeneID:ENSG00000269237; TranscriptID:ENST00000600810; AnnoType:INTRONIC; mirSVR-Score:-0.1775; mirSVR-E:-17.17 | GeneName:LINC00664; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000268658; TranscriptID:ENST00000599078; AnnoType:UPSTREAM; mirSVR-Score:-0.1775; mirSVR-E:-17.17 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000287819; AnnoType:REGULATORY; mirSVR-Score:-0.1775; mirSVR-E:-17.17 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000587112; AnnoType:REGULATORY; mirSVR-Score:-0.1775; mirSVR-E:-17.17 | NCRV0000002750 26634245 NONHSAT187459.1 rs142412198 A N/A 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio in copd rs142412198-A of NONHSAT187459.1 is significantly associated with the post bronchodilator fev1/fvc ratio in copd by using GWAS analysis in 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases(p-value = 1E-6 ;OR = 0.388). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT187459.1 lncRNA Pulmonary function measurement 0.33 GCAGCCCTAG(G > A)AAACTAATCT chr2: 122343972 0.996,0.003994 0.99471202854230377,0.00528797145769622 Region score:0.27; TSS score:0.06; Unmatched score:0.04; Average GERP:-0.18645940594059407 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002751 22885922 NONHSAT017523.2 rs231361 A N/A 6,377 european ancestry male cases//5,794 european ancestry female cases//22,243 european ancestry male controls//34,619 european ancestry female controls; 12,938 european ancestry male cases//8,553 european ancestry female cases//904 pakistani ancestry male cases//274 pakistani ancestry female cases//30,273 european ancestry male controls//25,374 european ancestry female controls//2,088 pakistani ancestry male controls//384 pakistani ancestry female controls EFO_0001360 N/A Associate Type 2 diabetes rs231361-A of NONHSAT017523.2 is significantly associated with the type 2 diabetes by using GWAS analysis in 6,377 european ancestry male cases//5,794 european ancestry female cases//22,243 european ancestry male controls//34,619 european ancestry female controls; 12,938 european ancestry male cases//8,553 european ancestry female cases//904 pakistani ancestry male cases//274 pakistani ancestry female cases//30,273 european ancestry male controls//25,374 european ancestry female controls//2,088 pakistani ancestry male controls//384 pakistani ancestry female controls(p-value = 1E-9 ;OR = 1.09). 0.4 Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes. genome-wide association analysis NONHSAT017523.2 lncRNA Type ii diabetes mellitus 0.33 GACCATGGTA(G > A)CTTGTCTCTA chr11: 2670270 0.5543,0.4457 0.67528351172273190,0.32471648827726809 Region score:0.26; TSS score:0.18; Unmatched score:0.12; Average GERP:-1.5998534653465346 GeneName:KCNQ1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000053918; TranscriptID:ENST00000155840; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:KCNQ1OT1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000269821; TranscriptID:ENST00000597346; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01947; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000276105; TranscriptID:ENST00000619507; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01948; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000276494; TranscriptID:ENST00000616504; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002752 29064472 NONHSAT191354.1 rs57646126 ? N/A 114 african ancestry schizophrenia cases//69 african schizo-affective cases//41 african ancestry bipolar disorder cases//116 european ancestry schizophrenia cases//86 european ancestry schizo-affective cases//165 european ancestry bipolar disorder cases. EFO_0008434 N/A Associate Initial pursuit acceleration in psychotic disorders rs57646126-? of NONHSAT191354.1 is significantly associated with the initial pursuit acceleration in psychotic disorders by using GWAS analysis in 114 african ancestry schizophrenia cases//69 african schizo-affective cases//41 african ancestry bipolar disorder cases//116 european ancestry schizophrenia cases//86 european ancestry schizo-affective cases//165 european ancestry bipolar disorder cases.(p-value = 8E-8 ;OR = ?). 0.4 Genome-wide association studies of smooth pursuit and antisaccade eye movements in psychotic disorders: findings from the B-SNIP study. genome-wide association analysis NONHSAT191354.1 lncRNA Initial pursuit acceleration 0.33 ACTGCTTTCA(G > A)CTTCTGATAA chr21: 28959613 0.9121,0.08786 0.96064283893985728,0.03935716106014271 Region score:0.66; TSS score:0.31; Unmatched score:0.7; Average GERP:2.977950495049505 GeneName:LTN1; CADD-Score:7; Consquence:missense; GeneID:ENSG00000198862; TranscriptID:ENST00000614971; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000660779; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002753 23251661 NONHSAT190197.1 rs4815191 A N/A 815 hispanic children from 263 families EFO_0004730 N/A Associate Obesity-related traits rs4815191-A of NONHSAT190197.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 6E-6 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. genome-wide association analysis NONHSAT190197.1 lncRNA Hormone measurement 0.33 CACATGGCTT(T > C)GTGTAGACCT chr20: 23288000 0.1689,0.8311 0.23937627420998980,0.76062372579001019 Region score:0.36; TSS score:0.24; Unmatched score:0.15; Average GERP:-0.8607594059405944 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002754 27467165 HOTAIR rs1899663 T N/a 510 cervical cancer patients (cases) and 713 cancer-free individuals (controls) in a chinese population EFO_0001061 N/A No significance for risk Cervical cancer rs1899663-T of HOTAIR and its dysfunction is not significantly associated with cervical cancer by using case-control analysis in 510 cervical cancer patients (cases) and 713 cancer-free individuals (controls) in a Chinese Population. -0.4 Association of Long Non-Coding RNA HOTAIR Polymorphisms with Cervical Cancer Risk in a Chinese Population. case-control analysis HOTAIR lncRNA Cervical cancer -0.33 TTGTTGTCAC(C > A)TCCACCCTCC chr12: 53967210 0.7462,0.2538 0.72418132008154943,0.27581867991845056 Region score:0.22; TSS score:0.34; Unmatched score:0.86; Average GERP:-0.48725445544554463 GeneName:AC012531.4; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000274817; TranscriptID:ENST00000616509; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC012531.5; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277129; TranscriptID:ENST00000611375; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOTAIR; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000228630; TranscriptID:ENST00000424518; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000458643; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01905; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000275589; TranscriptID:ENST00000611210; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01906; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000277994; TranscriptID:ENST00000611352; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002755 27225129 NONHSAT142467.2 rs11643654 A N/A 405,072 european ancestry individuals EFO_0004784 N/A Associate Educational attainment (years of education) rs11643654-A of NONHSAT142467.2 is significantly associated with the educational attainment (years of education) by using GWAS analysis in 405,072 european ancestry individuals(p-value = 2E-8 ;OR = 0.012901172). 0.4 Genome-wide association study identifies 74 loci associated with educational attainment. genome-wide association analysis NONHSAT142467.2 lncRNA Self reported educational attainment 0.33 GCCCGGGCGG(C > A)CGCAGCTTAG chr16: 51149817 0.5194,0.4806 0.54175426860346585,0.45824573139653414 Region score:0.28; TSS score:0.47; Unmatched score:0.91; Average GERP:0.1350762376237626 GeneName:AC009166.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000261238; TranscriptID:ENST00000570060; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC087564.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000285367; TranscriptID:ENST00000642450; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000085859; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SALL1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000103449; TranscriptID:ENST00000251020; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002756 20195266 NONHSAT221109.1 rs320209 ? N/A 421 european ancestry//214 african american//and 103 cases GO_0097338 N/A Associate Response to antipsychotic treatment rs320209-? of NONHSAT221109.1 is significantly associated with the response to antipsychotic treatment by using GWAS analysis in 421 european ancestry//214 african american//and 103 cases(p-value = 4E-7 ;OR = ?). 0.4 Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs. genome-wide association analysis NONHSAT221109.1 lncRNA Response to clozapine 0.33 TCTTATCTGC(A > T)ACTAAATTCT chr9: 102182473 0.9247,0.07528 0.92148477319062181,0.07851522680937818 Region score:0.32; TSS score:0.19; Unmatched score:0.01; Average GERP:-0.10579504950495046 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002757 24816252 NONHSAT095768.2 rs3099557 A N/A 7,824 european ancestry individuals EFO_0005664 N/A Associate Blood metabolite levels rs3099557-A of NONHSAT095768.2 is significantly associated with the blood metabolite levels by using GWAS analysis in 7,824 european ancestry individuals(p-value = 2E-39 ;OR = 0.148). 0.4 An atlas of genetic influences on human blood metabolites. genome-wide association analysis NONHSAT095768.2 lncRNA Blood metabolite measurement 0.33 ATCATTAAGA(G > A)TGTGGGTTCC chr4: 22822398 0.2324,0.7676 0.22641915137614678,0.77358084862385321 Region score:0.26; TSS score:0.13; Unmatched score:0.08; Average GERP:-0.9760673267326737 GeneName:GBA3; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000249948; TranscriptID:ENST00000610628; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002758 20205591 NONHSAT161332.1 rs1357339 ? N/A 515 african american cases EFO_0000180 N/A Associate Hiv-1 viral setpoint rs1357339-? of NONHSAT161332.1 is significantly associated with the hiv-1 viral setpoint by using GWAS analysis in 515 african american cases(p-value = 5E-6 ;OR = ?). 0.4 Host determinants of HIV-1 control in African Americans. genome-wide association analysis NONHSAT161332.1 lncRNA Hiv-1 infection 0.33 TCATGCACAT(C > A)TGTTTCATTG chr11: 81143332 0.902,0.09804 0.89378663353720693,0.10621336646279306 Region score:0.24; TSS score:0.13; Unmatched score:0.01; Average GERP:-0.33260693069306907 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002759 28443625 NONHSAT207116.1 rs589428 G N/A 95,362 european ancestry women//62,085 european ancestry men//5,829 european ancestry individuals//10,500 african american/afro-caribbean ancestry women//2,706 african american/afro-caribbean ancestry men//1,030 indian asian ancestry women//7,648 indian asian ancestry men//1,793 filipino ancestry women//2,944 hispanic/latino ancestry women//1,764 hispanic/latino ancestry men; 21,496 european ancestry women//24,385 european ancestry men//118,364 european ancestry individuals//2,326 african american/afro-caribbean ancestry women//855 african american/afro-caribbean ancestry men EFO_0007788 adjusted for smoking behaviour Associate Waist-to-hip ratio adjusted for bmi (adjusted for smoking behaviour) rs589428-G of NONHSAT207116.1 is significantly associated with the waist-to-hip ratio adjusted for bmi (adjusted for smoking behaviour) by using GWAS analysis in 95,362 european ancestry women//62,085 european ancestry men//5,829 european ancestry individuals//10,500 african american/afro-caribbean ancestry women//2,706 african american/afro-caribbean ancestry men//1,030 indian asian ancestry women//7,648 indian asian ancestry men//1,793 filipino ancestry women//2,944 hispanic/latino ancestry women//1,764 hispanic/latino ancestry men; 21,496 european ancestry women//24,385 european ancestry men//118,364 european ancestry individuals//2,326 african american/afro-caribbean ancestry women//855 african american/afro-caribbean ancestry men(p-value = 1E-17 ;OR = 0.024). 0.4 Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits. genome-wide association analysis NONHSAT207116.1 lncRNA Bmi-adjusted waist-hip ratio 0.33 CTGGGGACTT(T > G)TTAGAAATGC chr6: 31880443 0.1671,0.8329 0.22910295616717635,0.77089704383282364 Region score:0.4; TSS score:0.32; Unmatched score:0.4; Average GERP:-1.1203848514851487 GeneName:EHMT2-AS1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000237080; TranscriptID:ENST00000642849; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:EHMT2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000204371; TranscriptID:ENST00000375528; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SLC44A4; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000204385; TranscriptID:ENST00000229729; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002760 26192919 NONHSAT191891.1 rs8127691 ? N/A 12,882 european ancestry cases//21,770 european ancestry controls; 25,273 european ancestry cases//26,715 european ancestry controls//548 iranian ancestry cases//342 iranian ancestry control//1,423 indian ancestry cases//990 indian ancestry controls//2,824 east asian ancestry cases//3,719 east asian ancestry controls EFO_0003767 N/A Associate Inflammatory bowel disease rs8127691-? of NONHSAT191891.1 is significantly associated with the inflammatory bowel disease by using GWAS analysis in 12,882 european ancestry cases//21,770 european ancestry controls; 25,273 european ancestry cases//26,715 european ancestry controls//548 iranian ancestry cases//342 iranian ancestry control//1,423 indian ancestry cases//990 indian ancestry controls//2,824 east asian ancestry cases//3,719 east asian ancestry controls(p-value = 9E-30 ;OR = ?). 0.4 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. genome-wide association analysis NONHSAT191891.1 lncRNA Inflammatory bowel disease 0.33 ACTGGGCCAG(T > C)GTCTGGCTCA chr21: 44194977 0.3369,0.6631 0.80650324923547400,0.19349675076452599 Region score:0.33; TSS score:0.45; Unmatched score:0.22; Average GERP:-0.2933036633663365 GeneName:AP001056.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000285413; TranscriptID:ENST00000645813; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GATD3A; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000160221; TranscriptID:ENST00000449622; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000664580; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002761 27989323 NONHSAT157442.1 rs72819454 C N/A 3,634 finnish ancestry individuals EFO_0005140 N/A Associate Interleukin-9 levels rs72819454-C of NONHSAT157442.1 is significantly associated with the interleukin-9 levels by using GWAS analysis in 3,634 finnish ancestry individuals(p-value = 8E-6 ;OR = 0.3325). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. genome-wide association analysis NONHSAT157442.1 lncRNA Autoimmune disease 0.33 GAGATCTTGG(C > T)ACCAGGCCAG chr10: 103856955 0.9778,0.02216 0.96387614678899082,0.03612385321100917 Region score:0.46; TSS score:0.72; Unmatched score:0.77; Average GERP:-1.0852673267326733 GeneName:SH3PXD2A; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000107957; TranscriptID:ENST00000355946; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002762 23319000 NONHSAT150340.1 rs13303128 C N/A up to 398 european ancestry individuals EFO_0005133 N/A Associate Metabolite levels (mhpg) rs13303128-C of NONHSAT150340.1 is significantly associated with the metabolite levels (mhpg) by using GWAS analysis in up to 398 european ancestry individuals(p-value = 9E-6 ;OR = 0.2833). 0.4 Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid. genome-wide association analysis NONHSAT150340.1 lncRNA Mhpg measurement 0.33 CCCGTCTCTA(C > T)TAAAAATACA chr1: 203523592 0.3191,0.6809 0.32406345565749235,0.67593654434250764 Region score:0.27; TSS score:0.15; Unmatched score:0.1; Average GERP:-0.13341584158415842 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002763 25628336 NONHSAT206765.1 rs2153535 G N/A 80,494 european ancestry individuals EFO_0006928 N/A Associate Motion sickness rs2153535-G of NONHSAT206765.1 is significantly associated with the motion sickness by using GWAS analysis in 80,494 european ancestry individuals(p-value = 3E-18 ;OR = 0.046). 0.4 Genetic variants associated with motion sickness point to roles for inner ear development, neurological processes and glucose homeostasis. genome-wide association analysis NONHSAT206765.1 lncRNA Motion sickness 0.33 TTCACTTTTG(C > G,T)AATTGAGAAA chr6: 8369446 0.6641,0.3359,. 0.60154657237512742,0.39844546381243628,0.00000796381243628 Region score:0.51; TSS score:0.5; Unmatched score:0.18; Average GERP:2.1693089108910892 GeneName:AL355499.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000285216; TranscriptID:ENST00000644718; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002764 27558924 NONHSAT165683.1 rs116855232 C N/A 113 korean ancestry cases//154 korean ancestry controls; 245 east asian ancestry cases//522 east asian ancestry controls EFO_0004233 N/A Associate Response to thiopurine in inflammatory bowel disease (leukopenia) rs116855232-C of NONHSAT165683.1 is significantly associated with the response to thiopurine in inflammatory bowel disease (leukopenia) by using GWAS analysis in 113 korean ancestry cases//154 korean ancestry controls; 245 east asian ancestry cases//522 east asian ancestry controls(p-value = 1E-22 ;OR = 3.9). 0.4 A coding variant in FTO confers susceptibility to thiopurine-induced leukopenia in East Asian patients with IBD. genome-wide association analysis NONHSAT165683.1 lncRNA Leukopenia 0.33 CTGGGGACTG(C > T)GTTGTTTAAA chr13: 48045719 0.9605,0.03954 0.98507581549439347,0.01492418450560652 Region score:0.58; TSS score:0.31; Unmatched score:0.66; Average GERP:2.931444554455441 GeneName:AL158196.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000276968; TranscriptID:ENST00000616786; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NUDT15; CADD-Score:7; Consquence:missense; GeneID:ENSG00000136159; TranscriptID:ENST00000258662; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002765 23382691 NONHSAT216915.1 rs11774682 C N/A 2,247 european ancestry individuals EFO_0002690 N/A Associate Igg glycosylation rs11774682-C of NONHSAT216915.1 is significantly associated with the igg glycosylation by using GWAS analysis in 2,247 european ancestry individuals(p-value = 1E-6 ;OR = 0.8276). 0.4 Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. genome-wide association analysis NONHSAT216915.1 lncRNA Systemic lupus erythematosus 0.33 AGAAGCACAG(C > T)GATGTGATTG chr8: 31176759 0.988,0.01198 0.97206294597349643,0.02793705402650356 Region score:0.22; TSS score:0.11; Unmatched score:0.47; Average GERP:0.15463663366336627 GeneName:AC009563.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253961; TranscriptID:ENST00000523365; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:WRN; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000165392; TranscriptID:ENST00000298139; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002766 24144296 NONHSAT196769.1 rs6789327 A N/A 12,531 european ancestry individuals; 8,216 asian ancestry individuals EFO_0005318 N/A Associate Axial length rs6789327-A of NONHSAT196769.1 is significantly associated with the axial length by using GWAS analysis in 12,531 european ancestry individuals; 8,216 asian ancestry individuals(p-value = 3E-7 ;OR = 3.7647). 0.4 Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error. genome-wide association analysis NONHSAT196769.1 lncRNA Axial length measurement 0.33 CCATGGTTCT(G > A)TAACCTCAGG chr3: 189395472 0.9451,0.05491 0.94719992354740061,0.05280007645259938 Region score:0.38; TSS score:0.33; Unmatched score:0.2; Average GERP:-0.5436158415841583 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000712340; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002767 29213071 NONHSAT186323.1 rs144065589 T N/A 15,997 hispanic/latino individuals EFO_0004278 N/A Associate Qt interval rs144065589-T of NONHSAT186323.1 is significantly associated with the qt interval by using GWAS analysis in 15,997 hispanic/latino individuals(p-value = 2E-6 ;OR = 13.26). 0.4 GWAS of the electrocardiographic QT interval in Hispanics/Latinos generalizes previously identified loci and identifies population-specific signals. genome-wide association analysis NONHSAT186323.1 lncRNA Sudden cardiac arrest 0.33 ATCCATTTGA(T > G)AAAAATAAAT chr2: 218937366 0.9992,0.0007987 0.99829574413863404,0.00170425586136595 Region score:0.28; TSS score:0.3; Unmatched score:0.12; Average GERP:0.2683366336633663 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002768 24166409 NONHSAT198855.1 rs6532798 ? N/A 4,629 african american individuals//5,131 european ancestry individuals; 801 african american individuals//1,746 european ancestry individuals EFO_0003829 N/A Associate Alcohol dependence rs6532798-? of NONHSAT198855.1 is significantly associated with the alcohol dependence by using GWAS analysis in 4,629 african american individuals//5,131 european ancestry individuals; 801 african american individuals//1,746 european ancestry individuals(p-value = 7E-6 ;OR = ?). 0.4 Genome-wide association study of alcohol dependence:significant findings in African- and European-Americans including novel risk loci. genome-wide association analysis NONHSAT198855.1 lncRNA Alcohol dependence 0.33 GAAAGCTGTA(C > T)AATTCCACTT chr4: 99133676 0.153,0.847 0.24266532874617737,0.75733467125382262 Region score:0.24; TSS score:0.07; Unmatched score:0.12; Average GERP:-0.05885435643564364 GeneName:ADH4; CADD-Score:2; Consquence:intron; GeneID:ENSG00000198099; TranscriptID:ENST00000508393; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AP002026.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000246090; TranscriptID:ENST00000500358; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002769 23459443 NONHSAT149467.1 rs17450029 T N/A 33,781 european ancestry individuals EFO_0004278 N/A Associate Qt interval (drug interaction) rs17450029-T of NONHSAT149467.1 is significantly associated with the qt interval (drug interaction) by using GWAS analysis in 33,781 european ancestry individuals(p-value = 3E-6 ;OR = ?). 0.4 Drug-gene interactions and the search for missing heritability: a cross-sectional pharmacogenomics study of the QT interval. genome-wide association analysis NONHSAT149467.1 lncRNA Sudden cardiac arrest 0.33 AAATTTTACA(T > C)GTAGAAGAAA chr1: 101075443 0.8023,0.1977 0.79186576197757390,0.20813423802242609 Region score:0.14; TSS score:0.15; Unmatched score:0.36; Average GERP:-0.8045300990099009 GeneName:AC093157.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000233184; TranscriptID:ENST00000449473; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002770 28240269 NONHSAT161045.1 rs1993373 A N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0008282 N/A Associate Blood protein levels rs1993373-A of NONHSAT161045.1 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 2E-105 ;OR = 0.917). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. genome-wide association analysis NONHSAT161045.1 lncRNA Serum amyloid a-1 protein measurement 0.33 ATCAATAAAT(A > G)AATGGACATG chr11: 18259088 0.3536,0.6464 0.32727287206931702,0.67272712793068297 Region score:0.23; TSS score:0.54; Unmatched score:0.32; Average GERP:-0.33583564356435647 GeneName:ST13P5; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000212789; TranscriptID:ENST00000526214; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002771 21909110 NONHSAT206981.1 rs198846 G N/A 74,064 european ancestry individuals; 48,607 european ancestry individuals EFO_0006340 N/A Associate Blood pressure rs198846-G of NONHSAT206981.1 is significantly associated with the blood pressure by using GWAS analysis in 74,064 european ancestry individuals; 48,607 european ancestry individuals(p-value = 2E-12 ;OR = 0.478). 0.4 Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. genome-wide association analysis NONHSAT206981.1 lncRNA Mean arterial pressure 0.33 GTGGCCGGGG(A > G,T)AATGAGGACC chr6: 26107235 0.1072,0.8928,. 0.12598751274209989,0.86556288226299694,0.00844960499490316 Region score:0.31; TSS score:0.11; Unmatched score:0.15; Average GERP:0.041252475247524754 GeneName:HIST1H1T; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000187475; TranscriptID:ENST00000338379; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HIST1H4C; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000197061; TranscriptID:ENST00000377803; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002772 28453575 NONHSAT160034.1 rs33930165 C N/A 12,502 hispanic/latino individuals; 4,772 hispanic/latino individuals EFO_0004527 N/A Associate Mean corpuscular hemoglobin concentration rs33930165-C of NONHSAT160034.1 is significantly associated with the mean corpuscular hemoglobin concentration by using GWAS analysis in 12,502 hispanic/latino individuals; 4,772 hispanic/latino individuals(p-value = 7E-24 ;OR = 1.86). 0.4 Genome-wide association study of red blood cell traits in Hispanics/Latinos: The Hispanic Community Health Study/Study of Latinos. genome-wide association analysis NONHSAT160034.1 lncRNA Mean corpuscular hemoglobin 0.33 GACTTCTCCT(C > G,T)AGGAGTCAGA chr11: 5227003 0.9966,.,0.003395 0.99086550713557594,.,0.00913449286442405 Region score:0.37; TSS score:0.32; Unmatched score:0.63; Average GERP:0.6983584158415844 GeneName:AC104389.6; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000285498; TranscriptID:ENST00000644706; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HBB; CADD-Score:7; Consquence:missense; GeneID:ENSG00000244734; TranscriptID:ENST00000647020; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF00621; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000221031; TranscriptID:ENST00000408104; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002773 27863252 NONHSAT192562.1 rs138857 T N/A 164,454 european ancestry individuals EFO_0004584 N/A Associate Mean platelet volume rs138857-T of NONHSAT192562.1 is significantly associated with the mean platelet volume by using GWAS analysis in 164,454 european ancestry individuals(p-value = 4E-10 ;OR = 0.02849005). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT192562.1 lncRNA Mean platelet volume 0.33 AAGGTTTCAC(C > T)GTGCTGGCCA chr22: 49805941 0.6567,0.3433 0.68066704892966360,0.31933295107033639 Region score:0.35; TSS score:0.09; Unmatched score:0.11; Average GERP:0.0864504950495049 GeneName:BRD1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000100425; TranscriptID:ENST00000457780; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:Z98885.3; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000279345; TranscriptID:ENST00000624882; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002774 27989323 NONHSAT141763.2 rs72793342 G N/A 3,421 finnish ancestry individuals EFO_0005140 N/A Associate Rantes levels rs72793342-G of NONHSAT141763.2 is significantly associated with the rantes levels by using GWAS analysis in 3,421 finnish ancestry individuals(p-value = 1E-6 ;OR = 0.1487). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. genome-wide association analysis NONHSAT141763.2 lncRNA Autoimmune disease 0.33 GATTACTGGC(G > A,C)TGAGGCATCG chr16: 30537031 0.7618,0.2382,. 0.84820973496432212,0.15159116972477064,0.00019909531090723 Region score:0.35; TSS score:0.17; Unmatched score:0.54; Average GERP:-0.03260396039603965 GeneName:AC002310.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000235560; TranscriptID:ENST00000457283; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC002310.3; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000260494; TranscriptID:ENST00000569728; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC002310.4; CADD-Score:2; Consquence:intron; GeneID:ENSG00000260869; TranscriptID:ENST00000568114; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC002310.5; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000261459; TranscriptID:ENST00000569360; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ZNF747; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000169955; TranscriptID:ENST00000568028; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002775 28928442 NONHSAT155677.1 rs10762653 ? N/A 40,600 european ancestry cases//90,039 european ancestry controls EFO_0008410 N/A Associate Pneumonia rs10762653-? of NONHSAT155677.1 is significantly associated with the pneumonia by using GWAS analysis in 40,600 european ancestry cases//90,039 european ancestry controls(p-value = 1E-6 ;OR = 0.0639). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. genome-wide association analysis NONHSAT155677.1 lncRNA Susceptibility to pneumonia measurement 0.33 GGGCTCAAGC(A > G,T)ATTCTCCCAC chr10: 75078296 0.5687,0.4313,. 0.70173133282364933,0.29727319062181447,0.00099547655453618 Region score:0.31; TSS score:0.09; Unmatched score:0.02; Average GERP:0.09051485148514858 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002776 23563607 NONHSAT186760.1 rs10182181 G N/A 93,015 european ancestry overweight individuals//32,858 european ancestry class i obese individuals//9,889 european ancestry class ii obese individuals//2,896 european ancestry class iii obese individuals//up to 65,840 european ancestry controls; 65,332 european ancestry overweight individuals//22,373 european ancestry class i obese individuals//5,476 european ancestry class ii obese individuals//1,162 european ancestry class iii obese individuals//up to 39,294 european ancestry controls EFO_0001073 N/A Associate Obesity rs10182181-G of NONHSAT186760.1 is significantly associated with the obesity by using GWAS analysis in 93,015 european ancestry overweight individuals//32,858 european ancestry class i obese individuals//9,889 european ancestry class ii obese individuals//2,896 european ancestry class iii obese individuals//up to 65,840 european ancestry controls; 65,332 european ancestry overweight individuals//22,373 european ancestry class i obese individuals//5,476 european ancestry class ii obese individuals//1,162 european ancestry class iii obese individuals//up to 39,294 european ancestry controls(p-value = 1E-17 ;OR = 1.08). 0.4 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. genome-wide association analysis NONHSAT186760.1 lncRNA Obesity 0.599 CCATCTCGAG(A > G)TCCTTCACTT chr2: 24927427 0.4317,0.5683 0.42661346839959225,0.57338653160040774 Region score:0.23; TSS score:0.36; Unmatched score:0.27; Average GERP:-0.19630594059405934 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002776 26604143 NONHSAT186760.1 rs10182181 G N/A 34,744 european ancestry children; 11,313 european ancestry children EFO_0001073 N/A Associate Childhood body mass index rs10182181-G of NONHSAT186760.1 is significantly associated with the childhood body mass index by using GWAS analysis in 34,744 european ancestry children; 11,313 european ancestry children(p-value = 2E-21 ;OR = ?). 0.4 Genome-wide association analysis identifies three new susceptibility loci for childhood body mass index. genome-wide association analysis NONHSAT186760.1 lncRNA Obesity 0.599 CCATCTCGAG(A > G)TCCTTCACTT chr2: 24927427 0.4317,0.5683 0.42661346839959225,0.57338653160040774 Region score:0.23; TSS score:0.36; Unmatched score:0.27; Average GERP:-0.19630594059405934 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002776 28443625 NONHSAT186760.1 rs10182181 A N/A 98,173 european ancestry women//64,373 european ancestry men//5,829 european ancestry individuals//10,500 african american/afro-caribbean ancestry women//2,706 african american/afro-caribbean ancestry men//1,030 indian asian ancestry women//7,648 indian asian ancestry men//1,793 filipino ancestry women//2,944 hispanic/latino ancestry women//1,764 hispanic/latino ancestry men; 21,496 european ancestry women//24,385 european ancestry men//118,364 european ancestry individuals//2,326 african american/afro-caribbean ancestry women//855 african american/afro-caribbean ancestry men EFO_0001073 adjusted for smoking behaviour Associate Bmi (adjusted for smoking behaviour) rs10182181-A of NONHSAT186760.1 is significantly associated with the bmi (adjusted for smoking behaviour) by using GWAS analysis in 98,173 european ancestry women//64,373 european ancestry men//5,829 european ancestry individuals//10,500 african american/afro-caribbean ancestry women//2,706 african american/afro-caribbean ancestry men//1,030 indian asian ancestry women//7,648 indian asian ancestry men//1,793 filipino ancestry women//2,944 hispanic/latino ancestry women//1,764 hispanic/latino ancestry men; 21,496 european ancestry women//24,385 european ancestry men//118,364 european ancestry individuals//2,326 african american/afro-caribbean ancestry women//855 african american/afro-caribbean ancestry men(p-value = 2E-12 ;OR = 0.0329). 0.4 Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits. genome-wide association analysis NONHSAT186760.1 lncRNA Obesity 0.599 CCATCTCGAG(A > G)TCCTTCACTT chr2: 24927427 0.4317,0.5683 0.42661346839959225,0.57338653160040774 Region score:0.23; TSS score:0.36; Unmatched score:0.27; Average GERP:-0.19630594059405934 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002776 28892062 NONHSAT186760.1 rs10182181 G N/A up to 72,390 japanese ancestry women//up to 85,894 japanese ancestry men; up to 10,048 japanese ancestry women//up to 5,098 japanese ancestry men//up to 181,999 european ancestry women//up to 140,155 european ancestry controls EFO_0001073 N/A Associate Body mass index rs10182181-G of NONHSAT186760.1 is significantly associated with the body mass index by using GWAS analysis in up to 72,390 japanese ancestry women//up to 85,894 japanese ancestry men; up to 10,048 japanese ancestry women//up to 5,098 japanese ancestry men//up to 181,999 european ancestry women//up to 140,155 european ancestry controls(p-value = 3E-32 ;OR = 0.028). 0.4 Genome-wide association study identifies 112 new loci for body mass index in the Japanese population. genome-wide association analysis NONHSAT186760.1 lncRNA Obesity 0.599 CCATCTCGAG(A > G)TCCTTCACTT chr2: 24927427 0.4317,0.5683 0.42661346839959225,0.57338653160040774 Region score:0.23; TSS score:0.36; Unmatched score:0.27; Average GERP:-0.19630594059405934 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002776 25673413 NONHSAT186760.1 rs10182181 G N/A up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals EFO_0001073 N/A Associate Body mass index rs10182181-G of NONHSAT186760.1 is significantly associated with the body mass index by using GWAS analysis in up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals(p-value = 9E-24 ;OR = 0.031). 0.4 Genetic studies of body mass index yield new insights for obesity biology. genome-wide association analysis NONHSAT186760.1 lncRNA Obesity 0.599 CCATCTCGAG(A > G)TCCTTCACTT chr2: 24927427 0.4317,0.5683 0.42661346839959225,0.57338653160040774 Region score:0.23; TSS score:0.36; Unmatched score:0.27; Average GERP:-0.19630594059405934 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002777 28540026 NONHSAT172389.1 rs35828350 ? N/A schizophrenia cases and controls (see ripke//2014)cases//up to 1,190 controls EFO_0000692 N/A Associate Schizophrenia rs35828350-? of NONHSAT172389.1 is significantly associated with the schizophrenia by using GWAS analysis in schizophrenia cases and controls (see ripke//2014)cases//up to 1,190 controls(p-value = 6E-11 ;OR = 1.0752687). 0.4 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. genome-wide association analysis NONHSAT172389.1 lncRNA Schizophrenia 0.33 AGGCGCAGGC(G > A,C)GGTGGATCAT chr15: 84812610 0.8642,0.1358,. 0.80855791284403669,0.19054217635066258,0.00089991080530071 Region score:0.25; TSS score:0.26; Unmatched score:0.12; Average GERP:-0.18272527472527472 GeneName:ALPK3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000136383; TranscriptID:ENST00000258888; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002778 22139419 NONHSAT145127.2 rs6065 T N/A 38,891 european ancestry individuals//1,661 val borbera (founder/genetic isolate) individuals//521 carlantino (founder/genetic isolate) individuals//1,198 friuli venezia giulia (founder/genetic isolate) individuals//1,213 south tyrolean (founder/genetic isolate) individuals//890 sorbian (founder/genetic isolate) individuals//4,292 sardinian (founder/genetic isolate) individuals; up to 16,949 european ancestry individuals//854 cliento (founder/genetic isolate) individuals//1,035 talana (founder/genetic isolate) individuals EFO_0004309 N/A Associate Platelet count rs6065-T of NONHSAT145127.2 is significantly associated with the platelet count by using GWAS analysis in 38,891 european ancestry individuals//1,661 val borbera (founder/genetic isolate) individuals//521 carlantino (founder/genetic isolate) individuals//1,198 friuli venezia giulia (founder/genetic isolate) individuals//1,213 south tyrolean (founder/genetic isolate) individuals//890 sorbian (founder/genetic isolate) individuals//4,292 sardinian (founder/genetic isolate) individuals; up to 16,949 european ancestry individuals//854 cliento (founder/genetic isolate) individuals//1,035 talana (founder/genetic isolate) individuals(p-value = 3E-11 ;OR = 4.191). 0.4 New gene functions in megakaryopoiesis and platelet formation. genome-wide association analysis NONHSAT145127.2 lncRNA Platelet count 0.451 GGGCTCCTGA(C > T)GCCCACACCC chr17: 4933086 0.8684,0.1316 0.87210913608562691,0.12789086391437308 Region score:0.23; TSS score:0.26; Unmatched score:0.42; Average GERP:0.1869306930693071 GeneName:CHRNE; CADD-Score:2; Consquence:intron; GeneID:ENSG00000108556; TranscriptID:ENST00000649830; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GP1BA; CADD-Score:7; Consquence:missense; GeneID:ENSG00000185245; TranscriptID:ENST00000329125; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SLC25A11; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000108528; TranscriptID:ENST00000225665; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002778 20139978 NONHSAT145127.2 rs6065 T N/A 14,806 japanese ancestry individuals EFO_0004309 N/A Associate Platelet count rs6065-T of NONHSAT145127.2 is significantly associated with the platelet count by using GWAS analysis in 14,806 japanese ancestry individuals(p-value = 2E-12 ;OR = 0.124). 0.4 Genome-wide association study of hematological and biochemical traits in a Japanese population. genome-wide association analysis NONHSAT145127.2 lncRNA Platelet count 0.451 GGGCTCCTGA(C > T)GCCCACACCC chr17: 4933086 0.8684,0.1316 0.87210913608562691,0.12789086391437308 Region score:0.23; TSS score:0.26; Unmatched score:0.42; Average GERP:0.1869306930693071 GeneName:CHRNE; CADD-Score:2; Consquence:intron; GeneID:ENSG00000108556; TranscriptID:ENST00000649830; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GP1BA; CADD-Score:7; Consquence:missense; GeneID:ENSG00000185245; TranscriptID:ENST00000329125; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SLC25A11; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000108528; TranscriptID:ENST00000225665; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002779 25673413 NONHSAT164607.1 rs11170468 A N/A up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals EFO_0001073 N/A Associate Body mass index rs11170468-A of NONHSAT164607.1 is significantly associated with the body mass index by using GWAS analysis in up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals(p-value = 7E-8 ;OR = 0.02). 0.4 Genetic studies of body mass index yield new insights for obesity biology. genome-wide association analysis NONHSAT164607.1 lncRNA Obesity 0.33 TGCCCTGAGC(A > C)AACTAATTTT chr12: 39036246 0.8732,0.1268 0.80072948521916411,0.19927051478083588 Region score:0.28; TSS score:0.29; Unmatched score:0.09; Average GERP:-0.25551881188118797 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002780 28416818 NONHSAT016186.2 rs11598047 G N/A 8,656 european ancestry cases//102,776 european ancestry controls.; EFO_0000275 N/A Associate Atrial fibrillation rs11598047-G of NONHSAT016186.2 is significantly associated with the atrial fibrillation by using GWAS analysis in 8,656 european ancestry cases//102,776 european ancestry controls.; (p-value = 3E-21 ;OR = 1.18). 0.4 Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation. genome-wide association analysis NONHSAT016186.2 lncRNA Atrial fibrillation 0.33 CGGCATTAGG(A > G)GTTGGACAGA chr10: 103582915 0.8177,0.1823 0.83970438328236493,0.16029561671763506 Region score:0.24; TSS score:0.41; Unmatched score:0.29; Average GERP:-0.7895178217821783 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000414450; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NEURL1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000107954; TranscriptID:ENST00000369780; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002781 27050146 mir-499 rs3746444 T Recessive 996 patients with newly diagnosed, previously untreated, histopathologically confirmed index SCCNOP EFO_0000181 N/A better prognosis head and neck squamous cell carcinoma rs3746444-T of hsa-mir-499a and its dysfunction is significantly associated with the better prognosis of Head and neck squamous cell carcinoma by using case-control analysis in 996 patients with newly diagnosed, previously untreated, histopathologically confirmed index SCCNOP 0.4 Pre-miRNA variants as predictors of clinical outcome in patients with squamous cell carcinomas of the nonoropharynx. case-control analysis hsa-mir-499a miRNA Head and neck squamous cell carcinoma 0.451 CCACGTGAAC(A > G)TCACAGCAAG chr20: 34990448 0.8165,0.1835 0.81708715596330275,0.18291284403669724 Region score:0.79; TSS score:0.85; Unmatched score:0.95; Average GERP:3.757564356435645 GeneName:MIR499A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207635; TranscriptID:ENST00000384903; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR499B; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283441; TranscriptID:ENST00000636498; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYH7B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000078814; TranscriptID:ENST00000262873; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002781 20549817 mir-499 rs3746444 G Dominant 1109 patients with scchn (cases) and in 1130 cancer-free patients (controls) EFO_0000181 N/A Decreasing risk Squamous cell carcinoma of the head and neck rs3746444-G of mir-499 and its dysfunction is significantly associated with the decreasing risk of squamous cell carcinoma of the head and neck by using case-control analysis in 1109 patients with SCCHN (cases) and in 1130 cancer-free patients (controls). 0.4 Genetic variants in selected pre-microRNA genes and the risk of squamous cell carcinoma of the head and neck. case-control analysis hsa-mir-499a miRNA Head and neck squamous cell cancer 0.451 CCACGTGAAC(A > G)TCACAGCAAG chr20: 34990448 0.8165,0.1835 0.81708715596330275,0.18291284403669724 Region score:0.79; TSS score:0.85; Unmatched score:0.95; Average GERP:3.757564356435645 GeneName:MIR499A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207635; TranscriptID:ENST00000384903; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR499B; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283441; TranscriptID:ENST00000636498; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYH7B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000078814; TranscriptID:ENST00000262873; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002782 26835600 NONHSAT077747.2 rs111706465 ? N/A 38,937 european ancestry morning chronotype individuals//50,346 european ancestry evening chronotype individuals EFO_0004354 N/A Associate Morning vs. evening chronotype rs111706465-? of NONHSAT077747.2 is significantly associated with the morning vs. evening chronotype by using GWAS analysis in 38,937 european ancestry morning chronotype individuals//50,346 european ancestry evening chronotype individuals(p-value = 2E-8 ;OR = ?). 0.4 GWAS of 89,283 individuals identifies genetic variants associated with self-reporting of being a morning person. genome-wide association analysis NONHSAT077747.2 lncRNA Circadian rhythm 0.33 AACATGCAAG(A > C,G)CACTTCCTGG chr2: 238543741 0.9449,0.05511,. 0.91625254841997961,0.08373152395514780,0.00001592762487257 Region score:0.28; TSS score:0.14; Unmatched score:0.07; Average GERP:0.03141584158415839 GeneName:LINC01107; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000225493; TranscriptID:ENST00000446979; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002783 23111177 CDKN2B-AS1 rs1412829 ? Dominant 976 poag cases from the glaucoma genes and environment (glaugen) study and 1971 cases from the national eye institute glaucoma human genetics collaboration (neighbor) consortium EFO_0004190 N/A Decreasing risk Primary open-angle glaucoma rs1412829-? of CDKN2B-AS1 and its dysfunction is significantly associated with the decreasing risk of primary open-angle glaucoma by using case-control analysis in 976 POAG cases from the Glaucoma Genes and Environment (GLAUGEN) study and 1971 cases from the National Eye Institute Glaucoma Human Genetics Collaboration (NEIGHBOR) consortium. 0.4 CDKN2B-AS1 genotype-glaucoma feature correlations in primary open-angle glaucoma patients from the United States. case-control analysis CDKN2B-AS1 lncRNA Open-angle glaucoma 0.33 ATATTCAAGC(A > G)TGAGGAATGG chr9: 22043927 0.8157,0.1843 0.73534658511722731,0.26465341488277268 Region score:0.24; TSS score:0.31; Unmatched score:0.34; Average GERP:-0.1271079207920791 GeneName:CDKN2B-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000240498; TranscriptID:ENST00000428597; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF02045; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000274055; TranscriptID:ENST00000617587; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002784 27863252 NONHSAT207815.1 rs13204927 A N/A 172,332 european ancestry individuals EFO_0004527 N/A Associate Mean corpuscular hemoglobin rs13204927-A of NONHSAT207815.1 is significantly associated with the mean corpuscular hemoglobin by using GWAS analysis in 172,332 european ancestry individuals(p-value = 5E-30 ;OR = 0.04869638). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT207815.1 lncRNA Mean corpuscular hemoglobin 0.33 GGGGGTGGGT(G > A)GGTGTTACCT chr6: 109281587 0.5869,0.4131 0.60542494903160040,0.39457505096839959 Region score:0.06; TSS score:0.29; Unmatched score:0.08; Average GERP:-0.36986069306930663 GeneName:CCDC162P; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000203799; TranscriptID:ENST00000615766; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000801391; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002785 26028593 NONHSAT192799.1 rs12537 C N/A 1,434 han chinese ancestry cases//10,661 han chinese ancestry controls; 6,879 han chinese ancestry cases//9,019 han chinese ancestry controls EFO_0004194 N/A Associate Iga nephropathy rs12537-C of NONHSAT192799.1 is significantly associated with the iga nephropathy by using GWAS analysis in 1,434 han chinese ancestry cases//10,661 han chinese ancestry controls; 6,879 han chinese ancestry cases//9,019 han chinese ancestry controls(p-value = 3E-9 ;OR = 1.407). 0.4 Identification of new susceptibility loci for IgA nephropathy in Han Chinese. genome-wide association analysis NONHSAT192799.1 lncRNA Iga glomerulonephritis 0.451 ACAGTTTGAA(C > T)GTGGTGAAAC chr22: 30027471 0.6126,0.3874 0.61132613404689092,0.38867386595310907 Region score:0.45; TSS score:0.51; Unmatched score:0.68; Average GERP:0.7722039603960399 GeneName:AC003681.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000279159; TranscriptID:ENST00000624945; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0787; mirSVR-E:-18.59 | GeneName:HORMAD2-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000227117; TranscriptID:ENST00000429350; AnnoType:INTRONIC; mirSVR-Score:-0.0787; mirSVR-E:-18.59 | GeneName:MTMR3; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000100330; TranscriptID:ENST00000401950; AnnoType:3PRIME_UTR; mirSVR-Score:-0.0787; mirSVR-E:-18.59 | NCRV0000002785 22197929 NONHSAT192799.1 rs12537 C N/A 1,434 han chinese ancestry cases//4,270 han chinese ancestry controls; 2,703 han chinese ancestry cases//3,464 han chinese ancestry controls EFO_0004194 N/A Associate Iga nephropathy rs12537-C of NONHSAT192799.1 is significantly associated with the iga nephropathy by using GWAS analysis in 1,434 han chinese ancestry cases//4,270 han chinese ancestry controls; 2,703 han chinese ancestry cases//3,464 han chinese ancestry controls(p-value = 1E-11 ;OR = 1.28). 0.4 A genome-wide association study in Han Chinese identifies multiple susceptibility loci for IgA nephropathy. genome-wide association analysis NONHSAT192799.1 lncRNA Iga glomerulonephritis 0.451 ACAGTTTGAA(C > T)GTGGTGAAAC chr22: 30027471 0.6126,0.3874 0.61132613404689092,0.38867386595310907 Region score:0.45; TSS score:0.51; Unmatched score:0.68; Average GERP:0.7722039603960399 GeneName:AC003681.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000279159; TranscriptID:ENST00000624945; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0787; mirSVR-E:-18.59 | GeneName:HORMAD2-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000227117; TranscriptID:ENST00000429350; AnnoType:INTRONIC; mirSVR-Score:-0.0787; mirSVR-E:-18.59 | GeneName:MTMR3; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000100330; TranscriptID:ENST00000401950; AnnoType:3PRIME_UTR; mirSVR-Score:-0.0787; mirSVR-E:-18.59 | NCRV0000002786 24324551 NONHSAT209402.1 rs9450906 ? N/A 580 brazilian ancestry individuals EFO_0005529 N/A Associate Pr interval in tripanosoma cruzi seropositivity rs9450906-? of NONHSAT209402.1 is significantly associated with the pr interval in tripanosoma cruzi seropositivity by using GWAS analysis in 580 brazilian ancestry individuals(p-value = 6E-6 ;OR = ?). 0.4 Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects. genome-wide association analysis NONHSAT209402.1 lncRNA Chagas cardiomyopathy 0.33 AAAGATACTA(C > T)GATGTCAAGA chr6: 88173605 0.8331,0.1669 0.81617928134556574,0.18382071865443425 Region score:0.42; TSS score:0.24; Unmatched score:0.11; Average GERP:0.03629801980198026 GeneName:AL121835.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000279565; TranscriptID:ENST00000624253; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AL139042.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000234426; TranscriptID:ENST00000648572; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002787 27156151 miR-149 rs2292832 C N/A 354 Korean women: 120 patients with RIF and 234 healthy controls with at least one live birth and no history of pregnancy loss MP_0001728 N/A no significance for risk recurrent implantation failure rs2292832-C of hsa-mir-149 and its dysfunction is not significantly associated with Failure of embryo implantation by using case-control analysis in 354 Korean women: 120 patients with RIF and 234 healthy controls with at least one live birth and no history of pregnancy loss -0.4 Association of miR-146aC>G, miR-149C>T, miR-196a2T>C, and miR-499A>G polymorphisms with risk of recurrent implantation failure in Korean women. case-control analysis hsa-mir-149 miRNA Failure of embryo implantation -0.33 CTGGGGCAGC(T > A,C)GGAACAACGC chr2: 240456086 0.3866,.,0.6134 0.31987449031600407,0.00025484199796126,0.67987066768603465 Region score:0.3; TSS score:0.39; Unmatched score:0.89; Average GERP:1.5002722772277222 GeneName:AC110619.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000218416; TranscriptID:ENST00000404891; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GPC1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000063660; TranscriptID:ENST00000264039; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR149; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207611; TranscriptID:ENST00000384879; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000133146; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002788 23222517 NONHSAT164350.1 rs10849023 C N/A 62,553 european ancestry individuals//9,308 south asian ancestry individuals; 63,506 european ancestry individuals EFO_0004527 N/A Associate Red blood cell traits rs10849023-C of NONHSAT164350.1 is significantly associated with the red blood cell traits by using GWAS analysis in 62,553 european ancestry individuals//9,308 south asian ancestry individuals; 63,506 european ancestry individuals(p-value = 8E-12 ;OR = 0.008). 0.4 Seventy-five genetic loci influencing the human red blood cell. genome-wide association analysis NONHSAT164350.1 lncRNA Mean corpuscular hemoglobin 0.451 AAAGCAACCA(C > T)GGGAATCTTT chr12: 4223312 0.7841,0.2159 0.78052529306829765,0.21947470693170234 Region score:0.42; TSS score:0.31; Unmatched score:0.12; Average GERP:-0.5879930693069305 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002788 28017375 NONHSAT164350.1 rs10849023 ? N/A up to 21,020 european ancestry individuals//up to 3,621 african american individuals//up to 15,062 east asian individuals.; 16,389 individuals of european and african american ancestry. EFO_0004527 N/A Associate Mean corpuscular hemoglobin rs10849023-? of NONHSAT164350.1 is significantly associated with the mean corpuscular hemoglobin by using GWAS analysis in up to 21,020 european ancestry individuals//up to 3,621 african american individuals//up to 15,062 east asian individuals.; 16,389 individuals of european and african american ancestry.(p-value = 1E-8 ;OR = ?). 0.4 Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis. genome-wide association analysis NONHSAT164350.1 lncRNA Mean corpuscular hemoglobin 0.451 AAAGCAACCA(C > T)GGGAATCTTT chr12: 4223312 0.7841,0.2159 0.78052529306829765,0.21947470693170234 Region score:0.42; TSS score:0.31; Unmatched score:0.12; Average GERP:-0.5879930693069305 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002789 28448500 NONHSAT210397.1 rs9378213 G N/A 2,518 african american women//83,707 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//52,993 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men EFO_0007788 in active individuals Associate Waist-to-hip ratio adjusted for bmi in active individuals rs9378213-G of NONHSAT210397.1 is significantly associated with the waist-to-hip ratio adjusted for bmi in active individuals by using GWAS analysis in 2,518 african american women//83,707 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//52,993 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men(p-value = 6E-7 ;OR = 0.0232). 0.4 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. genome-wide association analysis NONHSAT210397.1 lncRNA Bmi-adjusted waist-hip ratio 0.451 AGAGCCATTT(T > A,G)ATTCCCATTT chr6: 32480621 0.638,.,0.362 0.69339322120285423,0.00003185524974515,0.30657492354740061 Region score:0.32; TSS score:0.4; Unmatched score:0.25; Average GERP:-0.2995950495049505 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002789 28448500 NONHSAT210397.1 rs9378213 ? N/A 2,518 african american women//83,707 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//52,993 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men EFO_0007788 joint analysis for main effect and physical activity interaction Associate Waist-to-hip ratio adjusted for bmi (joint analysis for main effect and physical activity interaction) rs9378213-? of NONHSAT210397.1 is significantly associated with the waist-to-hip ratio adjusted for bmi (joint analysis for main effect and physical activity interaction) by using GWAS analysis in 2,518 african american women//83,707 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//52,993 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men(p-value = 1E-7 ;OR = ?). 0.4 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. genome-wide association analysis NONHSAT210397.1 lncRNA Bmi-adjusted waist-hip ratio 0.451 AGAGCCATTT(T > A,G)ATTCCCATTT chr6: 32480621 0.638,.,0.362 0.69339322120285423,0.00003185524974515,0.30657492354740061 Region score:0.32; TSS score:0.4; Unmatched score:0.25; Average GERP:-0.2995950495049505 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002790 26152337 hsa-mir-604 rs2368392 A N/A 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A no significance for risk hepatocellular carcinoma rs2368392-A of hsa-mir-604 and its dysfunction is not significantly associated with Hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors -0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. case-control analysis hsa-mir-604 miRNA Hepatocellular carcinoma -0.33 ACACGAGAGC(G > A)TGGAAGGTCA chr10: 29545074 0.6769,0.3231 0.70142870795107033,0.29857129204892966 Region score:0.32; TSS score:0.14; Unmatched score:0.33; Average GERP:-1.4355336633663358 GeneName:MIR604; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207612; TranscriptID:ENST00000384880; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SVIL; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197321; TranscriptID:ENST00000355867; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002791 26242244 NONHSAT158458.1 rs4608000 ? N/A 128 han chinese ancestry cases EFO_0007700 N/A Associate Exploratory eye movement dysfunction in schizophrenia (number of eye fixations) rs4608000-? of NONHSAT158458.1 is significantly associated with the exploratory eye movement dysfunction in schizophrenia (number of eye fixations) by using GWAS analysis in 128 han chinese ancestry cases(p-value = 3E-6 ;OR = 8.081). 0.4 Association of chromosome 5q21.3 polymorphisms with the exploratory eye movement dysfunction in schizophrenia. genome-wide association analysis NONHSAT158458.1 lncRNA Exploratory eye movement measurement 0.33 AATGGATTCA(T > G)TTTAGGTCCT chr10: 107750337 0.139,0.861 0.09210149082568807,0.90789850917431192 Region score:0.39; TSS score:0.08; Unmatched score:0.01; Average GERP:0.12147524752475232 GeneName:LINC01435; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000229981; TranscriptID:ENST00000630847; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002792 25903422 NONHSAT148324.1 rs417065 A N/A 3,496 european ancestry cases//5,186 european ancestry controls//1,588 chinese ancestry cases//3,546 chinese ancestry controls; 5,134 european ancestry cases//5,633 european ancestry controls//5,151 chinese ancestry cases//5,152 chinese ancestry controls EFO_0000676 N/A Associate Psoriasis rs417065-A of NONHSAT148324.1 is significantly associated with the psoriasis by using GWAS analysis in 3,496 european ancestry cases//5,186 european ancestry controls//1,588 chinese ancestry cases//3,546 chinese ancestry controls; 5,134 european ancestry cases//5,633 european ancestry controls//5,151 chinese ancestry cases//5,152 chinese ancestry controls(p-value = 8E-7 ;OR = 1.17). 0.4 Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility. genome-wide association analysis NONHSAT148324.1 lncRNA Psoriasis 0.33 CACTCTTGCC(C > A)AGGCTACAGT chr1: 8204052 0.7873,0.2127 0.77500637104994903,0.22499362895005096 Region score:0.21; TSS score:0.32; Unmatched score:0.39; Average GERP:0.06100990099009914 GeneName:LINC01714; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000227634; TranscriptID:ENST00000635451; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RNU1-7P; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000200975; TranscriptID:ENST00000364105; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002793 29228715 NONHSAT173314.1 rs1124356 ? N/A 855 austrian ancestry colonoscopy-negative controls//3,439 european ancestry controls NCIT_C16450 N/A Associate Colonoscopy-negative controls vs population controls rs1124356-? of NONHSAT173314.1 is significantly associated with the colonoscopy-negative controls vs population controls by using GWAS analysis in 855 austrian ancestry colonoscopy-negative controls//3,439 european ancestry controls(p-value = 4E-6 ;OR = 1.354). 0.4 Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas. genome-wide association analysis NONHSAT173314.1 lncRNA Colonoscopy 0.33 N/A N/A N/A N/A N/A N/A NCRV0000002794 20834067 NONHSAT199111.1 rs6813479 ? N/A 1,173 individuals EFO_0004300 N/A Associate Longevity rs6813479-? of NONHSAT199111.1 is significantly associated with the longevity by using GWAS analysis in 1,173 individuals(p-value = 1E-6 ;OR = ?). 0.4 Joint influence of small-effect genetic variants on human longevity. genome-wide association analysis NONHSAT199111.1 lncRNA Longevity 0.33 TTGATAGTAG(T > A,C)TGAAGACTAT chr4: 136739228 0.4445,0.5555,. 0.48429536187563710,0.51564889143730886,0.00005574668705402 Region score:0.34; TSS score:0.21; Unmatched score:0.03; Average GERP:-0.3737306930693068 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002795 24413317 miR-27a rs895819 C N/a 16399 cases and 21779 controls from seven published studies in eight common cancers EFO_0000311 N/A Increasing risk Cancer rs895819-C of miR-27a and its dysfunction is significantly associated with the increasing risk of cancer by using meta-analysis in 16399 cases and 21779 controls from seven published studies in eight common cancers. 0.4 MicroRNA sequence polymorphisms and the risk of different types of cancer. meta-analysis hsa-mir-27a miRNA Cancer 0.352 CACGACTTGG(T > C)GTGGACCCTG chr19: 13836478 0.6362,0.3638 0.63091711264016309,0.36908288735983690 Region score:0.57; TSS score:0.41; Unmatched score:0.75; Average GERP:2.158386138613861 GeneName:AC020916.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000267519; TranscriptID:ENST00000587762; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR23A; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207980; TranscriptID:ENST00000385245; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR24-2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284387; TranscriptID:ENST00000386972; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR27A; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207808; TranscriptID:ENST00000385073; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000107447; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ZSWIM4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000132003; TranscriptID:ENST00000254323; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002795 26804235 MIR27A rs895819 G Dominant 1,592 patients EFO_0000311 fluoropyrimidine Increasing risk Severe fluoropyrimidine-associated toxicity rs895819-G of MIR27A and its dysfunction is significantly associated with the increasing risk of severe fluoropyrimidine-associated toxicity by using analysis of sequence variation in 1,592 patients. 0.4 Rs895819 in MIR27A improves the predictive value of DPYD variants to identify patients at risk of severe fluoropyrimidine-associated toxicity. analysis of sequence variation hsa-mir-27a miRNA Cancer 0.352 CACGACTTGG(T > C)GTGGACCCTG chr19: 13836478 0.6362,0.3638 0.63091711264016309,0.36908288735983690 Region score:0.57; TSS score:0.41; Unmatched score:0.75; Average GERP:2.158386138613861 GeneName:AC020916.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000267519; TranscriptID:ENST00000587762; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR23A; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207980; TranscriptID:ENST00000385245; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR24-2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284387; TranscriptID:ENST00000386972; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR27A; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207808; TranscriptID:ENST00000385073; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000107447; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ZSWIM4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000132003; TranscriptID:ENST00000254323; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002795 26804235 MIR27A rs895819 G N/a 1,592 patients EFO_0000311 fluoropyrimidine No significance for risk Severe fluoropyrimidine-associated toxicity in dpyd wild-type patients rs895819-G of MIR27A and its dysfunction is not significantly associated with severe fluoropyrimidine-associated toxicity in DPYD wild-type patients by using analysis of sequence variation in 1,592 patients. -0.4 Rs895819 in MIR27A improves the predictive value of DPYD variants to identify patients at risk of severe fluoropyrimidine-associated toxicity. analysis of sequence variation hsa-mir-27a miRNA Cancer 0.352 CACGACTTGG(T > C)GTGGACCCTG chr19: 13836478 0.6362,0.3638 0.63091711264016309,0.36908288735983690 Region score:0.57; TSS score:0.41; Unmatched score:0.75; Average GERP:2.158386138613861 GeneName:AC020916.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000267519; TranscriptID:ENST00000587762; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR23A; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207980; TranscriptID:ENST00000385245; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR24-2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284387; TranscriptID:ENST00000386972; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR27A; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207808; TranscriptID:ENST00000385073; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000107447; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ZSWIM4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000132003; TranscriptID:ENST00000254323; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002795 25556434 miR-27a rs895819 G Dominant 7,813 cases and 9,602 controls EFO_0000311 N/A Decreasing risk Cancer in caucasians rs895819-G of miR-27a and its dysfunction is significantly associated with the decreasing risk of cancer in Caucasians by using meta-analysis in 7,813 cases and 9,602 controls. 0.4 Association of a pre-miR-27a polymorphism with cancer risk: an updated meta-analysis. meta-analysis hsa-mir-27a miRNA Cancer 0.352 CACGACTTGG(T > C)GTGGACCCTG chr19: 13836478 0.6362,0.3638 0.63091711264016309,0.36908288735983690 Region score:0.57; TSS score:0.41; Unmatched score:0.75; Average GERP:2.158386138613861 GeneName:AC020916.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000267519; TranscriptID:ENST00000587762; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR23A; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207980; TranscriptID:ENST00000385245; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR24-2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284387; TranscriptID:ENST00000386972; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR27A; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207808; TranscriptID:ENST00000385073; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000107447; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ZSWIM4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000132003; TranscriptID:ENST00000254323; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002795 25655103 miR-27a rs895819 G Dominant 514 patients with cancer receiving fluoropyrimidine-based chemotherapy EFO_0000311 N/A decreasing risk cancer rs895819-G of hsa-mir-27a and its dysfunction is significantly associated with the decreasing risk of Cancer by using analysis of sequence variation in 514 patients with cancer receiving fluoropyrimidine-based chemotherapy 0.4 Polymorphisms in MIR27A Associated with Early-Onset Toxicity in Fluoropyrimidine-Based Chemotherapy. analysis of sequence variation hsa-mir-27a miRNA Cancer 0.352 CACGACTTGG(T > C)GTGGACCCTG chr19: 13836478 0.6362,0.3638 0.63091711264016309,0.36908288735983690 Region score:0.57; TSS score:0.41; Unmatched score:0.75; Average GERP:2.158386138613861 GeneName:AC020916.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000267519; TranscriptID:ENST00000587762; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR23A; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207980; TranscriptID:ENST00000385245; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR24-2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284387; TranscriptID:ENST00000386972; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR27A; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207808; TranscriptID:ENST00000385073; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000107447; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ZSWIM4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000132003; TranscriptID:ENST00000254323; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002796 26856603 miR603 rs11014002 T N/A 365 cognitively normal elderly controls , 772 cognitive impairment subjects and 301 AD from the ADNI database EFO_0000249 N/A decreasing risk Alzheimer's disease rs11014002-T of hsa-mir-603 and its dysfunction is significantly associated with the decreasing risk of Alzheimers disease by using case-control analysis in 365 cognitively normal elderly controls , 772 cognitive impairment subjects and 301 AD from the ADNI database 1.4 Primate-specific miR-603 is implicated in the risk and pathogenesis of Alzheimer's disease. case-control analysis hsa-mir-603 miRNA Alzheimers disease 0.753 AATTGCAGTG(C > A,T)TTCCCATTTA chr10: 24275724 0.9163,.,0.08367 0.94849006116207951,.,0.05150993883792048 Region score:0.38; TSS score:0.02; Unmatched score:0.33; Average GERP:-0.2897840594059408 GeneName:KIAA1217; CADD-Score:2; Consquence:intron; GeneID:ENSG00000120549; TranscriptID:ENST00000376454; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR603; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207930; TranscriptID:ENST00000385195; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002797 22778062 SNORD114-4 rs77545594 G N/a N/a function N/A Significant changes in the structure Function rs77545594-G of SNORD114-4 and its dysfunction having significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD114-4 snoRNA Function 0.049 CAACTCATCA(T > C)TGGGACATGT chr14: 21397396 0.9854,0.01458 0.99077790519877675,0.00922209480122324 Region score:0.69; TSS score:0.28; Unmatched score:0.57; Average GERP:2.422029702970299 GeneName:AL161747.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000241035; TranscriptID:ENST00000480068; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CHD8; CADD-Score:2; Consquence:intron; GeneID:ENSG00000100888; TranscriptID:ENST00000646647; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORD8; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000200785; TranscriptID:ENST00000363915; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002798 19901119 NONHSAT161941.1 rs11045818 G N/A 315 european ancestry cases//73 african american cases//5 asian ancestry cases//247 cases GO_0097327 N/A Associate Methotrexate phramacokinetics (acute lymphoblastic leukemia) rs11045818-G of NONHSAT161941.1 is significantly associated with the methotrexate phramacokinetics (acute lymphoblastic leukemia) by using GWAS analysis in 315 european ancestry cases//73 african american cases//5 asian ancestry cases//247 cases(p-value = 7E-7 ;OR = 9.3). 0.4 Germline genetic variation in an organic anion transporter polypeptide associated with methotrexate pharmacokinetics and clinical effects. genome-wide association analysis NONHSAT161941.1 lncRNA Response to antineoplastic agent 0.33 ATTCAACATC(G > A)ACCTTATCCA chr12: 21176827 0.9483,0.05172 0.88844291539245667,0.11155708460754332 Region score:0.38; TSS score:0.71; Unmatched score:0.63; Average GERP:0.16637623762376239 GeneName:AC022335.1; CADD-Score:2; Consquence:NMD,3_prime_UTR; GeneID:ENSG00000257062; TranscriptID:ENST00000543498; AnnoType:3PRIME_UTR; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SLCO1B1; CADD-Score:5; Consquence:synonymous; GeneID:ENSG00000134538; TranscriptID:ENST00000256958; AnnoType:SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002799 22449649 NONHSAT213728.1 rs7792596 ? N/A 656 european ancestry individuals from adhd families EFO_0004337 N/A Associate Intelligence rs7792596-? of NONHSAT213728.1 is significantly associated with the intelligence by using GWAS analysis in 656 european ancestry individuals from adhd families(p-value = 6E-7 ;OR = 4.13). 0.4 Genome-wide association study of intelligence: additive effects of novel brain expressed genes. genome-wide association analysis NONHSAT213728.1 lncRNA Intelligence 0.33 TGATGATATT(T > A,C)GGTATCTTCT chr7: 94380322 0.3604,.,0.6396 0.48230440876656472,0.00598082313965341,0.51171476809378185 Region score:0.24; TSS score:0.3; Unmatched score:0.12; Average GERP:-0.304089108910891 GeneName:AC002074.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000285090; TranscriptID:ENST00000642601; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000215277; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002800 27863252 NONHSAT010798.2 rs3811444 T N/A 172,952 european ancestry individuals EFO_0004305 N/A Associate Red blood cell count rs3811444-T of NONHSAT010798.2 is significantly associated with the red blood cell count by using GWAS analysis in 172,952 european ancestry individuals(p-value = 1E-29 ;OR = 0.04242943). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT010798.2 lncRNA Erythrocyte count 0.451 GGGGAAACCA(C > T)GCCATCTCCT chr1: 247876149 0.7726,0.2274 0.74839927370030581,0.25160072629969418 Region score:0.13; TSS score:0.23; Unmatched score:0.34; Average GERP:0.6634764356435642 GeneName:TRIM58; CADD-Score:7; Consquence:missense; GeneID:ENSG00000162722; TranscriptID:ENST00000366481; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002800 23222517 NONHSAT010798.2 rs3811444 T N/A 62,553 european ancestry individuals//9,308 south asian ancestry individuals; 63,506 european ancestry individuals EFO_0004305 N/A Associate Red blood cell traits rs3811444-T of NONHSAT010798.2 is significantly associated with the red blood cell traits by using GWAS analysis in 62,553 european ancestry individuals//9,308 south asian ancestry individuals; 63,506 european ancestry individuals(p-value = 5E-10 ;OR = 0.018). 0.4 Seventy-five genetic loci influencing the human red blood cell. genome-wide association analysis NONHSAT010798.2 lncRNA Erythrocyte count 0.451 GGGGAAACCA(C > T)GCCATCTCCT chr1: 247876149 0.7726,0.2274 0.74839927370030581,0.25160072629969418 Region score:0.13; TSS score:0.23; Unmatched score:0.34; Average GERP:0.6634764356435642 GeneName:TRIM58; CADD-Score:7; Consquence:missense; GeneID:ENSG00000162722; TranscriptID:ENST00000366481; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002801 23382691 NONHSAT053418.2 rs523516 T N/A 2,247 european ancestry individuals EFO_0002690 N/A Associate Igg glycosylation rs523516-T of NONHSAT053418.2 is significantly associated with the igg glycosylation by using GWAS analysis in 2,247 european ancestry individuals(p-value = 4E-6 ;OR = 0.1916). 0.4 Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. genome-wide association analysis NONHSAT053418.2 lncRNA Systemic lupus erythematosus 0.33 AAGGAGGGAG(A > G,T)CAGCGCCCCC chr17: 39175092 0.7885,.,0.2115 0.79955084097859327,0.00065303261977573,0.19979612640163098 Region score:0.51; TSS score:0.41; Unmatched score:0.6; Average GERP:0.6241653465346533 GeneName:AC004408.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000266101; TranscriptID:ENST00000579256; AnnoType:INTRONIC; mirSVR-Score:-0.1668; mirSVR-E:-10.78 | GeneName:CACNB1; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000067191; TranscriptID:ENST00000394303; AnnoType:3PRIME_UTR; mirSVR-Score:-0.1668; mirSVR-E:-10.78 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000283333; AnnoType:REGULATORY; mirSVR-Score:-0.1668; mirSVR-E:-10.78 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000555053; AnnoType:REGULATORY; mirSVR-Score:-0.1668; mirSVR-E:-10.78 | NCRV0000002802 20549817 mir-196a2 rs11614913 T N/A 1109 patients with SCCHN (cases) and in 1130 cancer-free patients (controls) EFO_0000181 N/A no significance for risk head and neck squamous cell carcinoma rs11614913-T of hsa-mir-196a-2 and its dysfunction is not significantly associated with Head and neck squamous cell carcinoma by using case-control analysis in 1109 patients with SCCHN (cases) and in 1130 cancer-free patients (controls) -0.4 Genetic variants in selected pre-microRNA genes and the risk of squamous cell carcinoma of the head and neck. case-control analysis hsa-mir-196a-2 miRNA Head and neck squamous cell carcinoma -0.181 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002802 27050146 mir-196a2 rs11614913 T N/a 996 patients with newly diagnosed, previously untreated, histopathologically confirmed index sccnop EFO_0000181 N/A No significance for risk Squamous cell carcinomas of the nonoropharynx rs11614913-T of mir-196a2 and its dysfunction is not significantly associated with squamous cell carcinomas of the nonoropharynx by using case-control analysis in 996 patients with newly diagnosed, previously untreated, histopathologically confirmed index SCCNOP. -0.4 Pre-miRNA variants as predictors of clinical outcome in patients with squamous cell carcinomas of the nonoropharynx. case-control analysis hsa-mir-196a-2 miRNA Head and neck squamous cell cancer -0.181 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002802 20501619 MIR196A2 rs11614913 T Dominant 484 cases and 555 controls EFO_0000181 N/A Decreasing risk Head and neck squamous cell carcinoma rs11614913-T of MIR196A2 and its dysfunction is significantly associated with the decreasing risk of head and neck squamous cell carcinoma by using case-control analysis in 484 cases and 555 controls. 0.4 Mature microRNA sequence polymorphism in MIR196A2 is associated with risk and prognosis of head and neck cancer. case-control analysis hsa-mir-196a-2 miRNA Head and neck squamous cell cancer -0.181 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002803 27863252 NONHSAT069783.2 rs11336847 A N/A 170,494 european ancestry individuals EFO_0007989 N/A Associate Monocyte percentage of white cells rs11336847-A of NONHSAT069783.2 is significantly associated with the monocyte percentage of white cells by using GWAS analysis in 170,494 european ancestry individuals(p-value = 1E-34 ;OR = 0.04499914). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT069783.2 lncRNA Monocypte percentage of leukocytes 0.33 CTCATTTTTA(AT > A)TTTTTTTTTT chr2: 27526125 0.3127,0.6873 0.34765226809378185,0.65234773190621814 N/A GeneName:GCKR; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000084734; TranscriptID:ENST00000264717; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002804 21886157 NONHSAT200290.1 rs2087160 G N/A 2,820 european ancestry individuals EFO_0004725 N/A Associate Metabolic traits rs2087160-G of NONHSAT200290.1 is significantly associated with the metabolic traits by using GWAS analysis in 2,820 european ancestry individuals(p-value = 7E-13 ;OR = 0.124). 0.4 Human metabolic individuality in biomedical and pharmaceutical research. genome-wide association analysis NONHSAT200290.1 lncRNA Metabolite measurement 0.33 TTGAACATCT(G > T)TAAAGCCCCT chr4: 110413574 0.4197,0.5803 0.33064156472986748,0.66935843527013251 Region score:0.27; TSS score:0.36; Unmatched score:0.46; Average GERP:0.058437499999999976 GeneName:ENPEP; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000138792; TranscriptID:ENST00000510961; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ZNF969P; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000251046; TranscriptID:ENST00000510345; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002805 26584805 NONHSAT143774.2 rs2288059 T N/A 717 singaporean chinese ancestry myocardial infarction cases//644 singaporean chinese ancestry controls EFO_0007764 N/A Associate Delta-5 desaturase activity rs2288059-T of NONHSAT143774.2 is significantly associated with the delta-5 desaturase activity by using GWAS analysis in 717 singaporean chinese ancestry myocardial infarction cases//644 singaporean chinese ancestry controls(p-value = 6E-6 ;OR = 0.0908). 0.4 A genome-wide association study of n-3 and n-6 plasma fatty acids in a Singaporean Chinese population. genome-wide association analysis NONHSAT143774.2 lncRNA Delta-5 desaturase measurement 0.33 GCATGTGAAC(C > T)AGTGCCCCTG chr16: 76136198 0.6603,0.3397 0.76461359582059123,0.23538640417940876 Region score:0.23; TSS score:0.35; Unmatched score:0.41; Average GERP:0.30430495049504963 GeneName:AC099511.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000260223; TranscriptID:ENST00000564561; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002806 29083406 NONHSAT208977.1 rs2854001 A N/A 180,129 european ancestry cases//180,709 european ancestry controls EFO_0003785 N/A Associate Allergic disease (asthma//hay fever or eczema) rs2854001-A of NONHSAT208977.1 is significantly associated with the allergic disease (asthma//hay fever or eczema) by using GWAS analysis in 180,129 european ancestry cases//180,709 european ancestry controls(p-value = 1E-19 ;OR = 1.059). 0.4 Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology. genome-wide association analysis NONHSAT208977.1 lncRNA Allergy 0.33 TGGGAAAGGA(G > A)GGGAAGATGA chr6: 31355235 0.854,0.146 0.86409754077471967,0.13590245922528032 Region score:0.19; TSS score:0.19; Unmatched score:0.62; Average GERP:-0.5612742574257424 GeneName:AL671883.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000271581; TranscriptID:ENST00000603274; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HLA-B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000234745; TranscriptID:ENST00000412585; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR6891; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000277402; TranscriptID:ENST00000618788; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000195527; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002807 27863252 NONHSAT175429.1 rs56378716 G N/A 170,384 european ancestry individuals EFO_0009390 N/A Associate Sum neutrophil eosinophil counts rs56378716-G of NONHSAT175429.1 is significantly associated with the sum neutrophil eosinophil counts by using GWAS analysis in 170,384 european ancestry individuals(p-value = 3E-17 ;OR = 0.1350541). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT175429.1 lncRNA Sum of neutrophil and eosinophil counts 0.33 TTGCATGAAC(A > G)TGAGTGAGCG chr17: 58279141 0.9952,0.004792 0.99255383537206931,0.00744616462793068 Region score:0.5; TSS score:0.49; Unmatched score:0.76; Average GERP:2.4658316831683167 GeneName:MPO; CADD-Score:7; Consquence:missense; GeneID:ENSG00000005381; TranscriptID:ENST00000225275; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000559774; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002808 28928442 NONHSAT203945.1 rs74703333 ? N/A 6,812 european ancestry cases//113,837 european ancestry controls EFO_0008409 N/A Associate Scarlet fever rs74703333-? of NONHSAT203945.1 is significantly associated with the scarlet fever by using GWAS analysis in 6,812 european ancestry cases//113,837 european ancestry controls(p-value = 3E-6 ;OR = 1.939). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. genome-wide association analysis NONHSAT203945.1 lncRNA Susceptibility to scarlet fever measurement 0.33 TGCAAGGCCA(G > A)AGCCAAAGAT chr5: 20974662 0.9836,0.01637 0.98650133792048929,0.01349866207951070 Region score:0.37; TSS score:0.35; Unmatched score:0.12; Average GERP:-0.20245346534653466 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002809 26634245 NONHSAT023594.2 rs149504921 C N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio rs149504921-C of NONHSAT023594.2 is significantly associated with the post bronchodilator fev1/fvc ratio by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 5E-6 ;OR = 0.097). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT023594.2 lncRNA Pulmonary function measurement 0.33 TGTTAGTGTA(T > C)AAATGTGAGA chr11: 90852917 0.9974,0.002596 0.99781791539245667,0.00218208460754332 Region score:0.2; TSS score:0.1; Unmatched score:0.27; Average GERP:-0.22279340206185547 GeneName:DISC1FP1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000261645; TranscriptID:ENST00000569513; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002810 27798624 NONHSAT149294.1 rs2152735 A N/A 127,919 european ancestry individuals//2,478 asian ancestry individuals//1,734 black individuals//684 mixed ancestry individuals//1,436 individuals; 130,795 european ancestry individuals EFO_0003777 N/A Associate Resting heart rate rs2152735-A of NONHSAT149294.1 is significantly associated with the resting heart rate by using GWAS analysis in 127,919 european ancestry individuals//2,478 asian ancestry individuals//1,734 black individuals//684 mixed ancestry individuals//1,436 individuals; 130,795 european ancestry individuals(p-value = 7E-18 ;OR = 0.3061). 0.4 Identification of genomic loci associated with resting heart rate and shared genetic predictors with all-cause mortality. genome-wide association analysis NONHSAT149294.1 lncRNA Heart disease 0.33 TAAAAATAAA(G > A,C)GTCTGTGGAT chr1: 87427449 0.5789,0.4211,. 0.61717953618756371,0.38281250000000000,0.00000796381243628 Region score:0.27; TSS score:0.21; Unmatched score:0.04; Average GERP:-0.6536306930693068 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000364346; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002811 24978643 MIR149 rs2292832 C N/a 350 esrd patients and 350 age-matched, sex-matched, and ethnically matched controls. EFO_0003086 N/A No significance for risk End-stage renal disease rs2292832-C of MIR149 and its dysfunction is not significantly associated with end-stage renal disease by using case-control analysis in 350 ESRD patients and 350 age-matched, sex-matched, and ethnically matched controls -0.4 Genetic variants of MicroRNA-related genes in susceptibility and prognosis of end-stage renal disease and renal allograft outcome among north Indians. case-control analysis hsa-mir-149 miRNA Kidney disease -0.33 CTGGGGCAGC(T > A,C)GGAACAACGC chr2: 240456086 0.3866,.,0.6134 0.31987449031600407,0.00025484199796126,0.67987066768603465 Region score:0.3; TSS score:0.39; Unmatched score:0.89; Average GERP:1.5002722772277222 GeneName:AC110619.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000218416; TranscriptID:ENST00000404891; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GPC1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000063660; TranscriptID:ENST00000264039; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR149; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207611; TranscriptID:ENST00000384879; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000133146; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002812 27989323 NONHSAT087620.2 rs66515854 C N/A 3,531 finnish ancestry individuals EFO_0005140 N/A Associate Beta-nerve growth factor levels rs66515854-C of NONHSAT087620.2 is significantly associated with the beta-nerve growth factor levels by using GWAS analysis in 3,531 finnish ancestry individuals(p-value = 7E-6 ;OR = 0.1948). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. genome-wide association analysis NONHSAT087620.2 lncRNA Autoimmune disease 0.33 TCAGGGTATA(T > C)AGTGTATCTC chr3: 3849622 0.7486,0.2514 0.77938646788990825,0.22061353211009174 Region score:0.3; TSS score:0.3; Unmatched score:0.17; Average GERP:0.8371782178217821 GeneName:LRRN1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000175928; TranscriptID:ENST00000319331; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SUMF1; CADD-Score:2; Consquence:intron,NMD; GeneID:ENSG00000144455; TranscriptID:ENST00000448413; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002813 28743860 NONHSAT200183.1 rs7672749 A N/A 8,327 european ancestry individuals//2,087 individuals EFO_0007591 N/A Associate Tb-lm or tblh-bmd (pleiotropy) rs7672749-A of NONHSAT200183.1 is significantly associated with the tb-lm or tblh-bmd (pleiotropy) by using GWAS analysis in 8,327 european ancestry individuals//2,087 individuals(p-value = 3E-8 ;OR = ?). 0.4 Bivariate genome-wide association meta-analysis of pediatric musculoskeletal traits reveals pleiotropic effects at the SREBF1/TOM1L2 locus. genome-wide association analysis NONHSAT200183.1 lncRNA Bone mineral accretion measurement 0.33 CTGGAGAGAG(G > A)TGTCACCAGA chr4: 87877132 0.8678,0.1322 0.88705721202854230,0.11294278797145769 Region score:0.12; TSS score:0.06; Unmatched score:0.01; Average GERP:-0.16108514851485145 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002814 27197191 NONHSAT200257.1 rs7679673 A N/A 5,020 european ancestry lung cancer cases//3,718 european ancestry lung adenocarcinoma cases//3,422 european ancestry lung squamous cell carcinoma cases//15,414 european ancestry colorectal cancer cases//10,809 european ancestry breast cancer cases//4,939 european ancestry estrogen receptor negative breast cancer cases//1,098 european ancestry ovarian cancer cases//2,556 european ancestry serous ovarian cancer cases//715 european ancestry ovarian endometrioid carcinoma cases//9,710 european ancestry prostate cancer cases//4,450 european ancestry aggressive prostate cancer cases// 61,820 european ancestry controls EFO_0000311 N/A Associate Cancer (pleiotropy) rs7679673-A of NONHSAT200257.1 is significantly associated with the cancer (pleiotropy) by using GWAS analysis in 5,020 european ancestry lung cancer cases//3,718 european ancestry lung adenocarcinoma cases//3,422 european ancestry lung squamous cell carcinoma cases//15,414 european ancestry colorectal cancer cases//10,809 european ancestry breast cancer cases//4,939 european ancestry estrogen receptor negative breast cancer cases//1,098 european ancestry ovarian cancer cases//2,556 european ancestry serous ovarian cancer cases//715 european ancestry ovarian endometrioid carcinoma cases//9,710 european ancestry prostate cancer cases//4,450 european ancestry aggressive prostate cancer cases// 61,820 european ancestry controls(p-value = 1E-10 ;OR = ?). 0.4 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations. genome-wide association analysis NONHSAT200257.1 lncRNA Cancer 0.33 ATTTTTGACA(C > A)AACTCTATCA chr4: 105140377 0.4083,0.5917 0.48941609327217125,0.51058390672782874 Region score:0.14; TSS score:0.18; Unmatched score:0.43; Average GERP:-0.9553586138613857 GeneName:AC004069.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000251259; TranscriptID:ENST00000504082; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000171428; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002815 20139978 NONHSAT013359.2 rs7085433 A N/A 14,364 japanese ancestry individuals EFO_0004526 N/A Associate Mean corpuscular volume rs7085433-A of NONHSAT013359.2 is significantly associated with the mean corpuscular volume by using GWAS analysis in 14,364 japanese ancestry individuals(p-value = 7E-9 ;OR = 0.095). 0.4 Genome-wide association study of hematological and biochemical traits in a Japanese population. genome-wide association analysis NONHSAT013359.2 lncRNA Mean corpuscular volume 0.33 CATGCCTGGC(C > T)GTCACTAATC chr10: 46002468 0.9105,0.08946 0.90452981651376146,0.09547018348623853 Region score:0.49; TSS score:0.3; Unmatched score:0.41; Average GERP:0.035381188118811954 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000402503; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NCOA4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000266412; TranscriptID:ENST00000578454; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TIMM23; CADD-Score:2; Consquence:intron; GeneID:ENSG00000265354; TranscriptID:ENST00000580018; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002816 27863252 NONHSAT180721.1 rs74929147 A N/A 172,952 european ancestry individuals EFO_0004305 N/A Associate Red blood cell count rs74929147-A of NONHSAT180721.1 is significantly associated with the red blood cell count by using GWAS analysis in 172,952 european ancestry individuals(p-value = 9E-10 ;OR = 0.04742117). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT180721.1 lncRNA Erythrocyte count 0.33 GGAAACCCAC(G > A,C)GGGCTGAGCG chr19: 18302251 0.9675,0.03255,. 0.95015449796126401,0.04983753822629969,0.00000796381243628 Region score:0.41; TSS score:0.58; Unmatched score:0.34; Average GERP:0.03447999999999998 GeneName:LSM4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000130520; TranscriptID:ENST00000593829; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002817 23453885 NONHSAT208965.1 rs3132581 G N/A 6,990 european ancestry bipolar disorder cases//9,227 european ancestry major depressive disorder cases//9,379 european ancestry schizophrenia cases//161 european ancestry autism spectrum disorder cases//4,788 european ancestry autism spectrum disorder trio cases//840 european ancestry attention deficit-hyperactivity disorder cases//1,947 european ancestry attention defcit-hyperactivity disorder trio cases//27,888 european ancestry controls EFO_0000677 N/A Associate Autism spectrum disorder//attention deficit-hyperactivity disorder//bipolar disorder//major depressive disorder//and schizophrenia (combined) rs3132581-G of NONHSAT208965.1 is significantly associated with the autism spectrum disorder//attention deficit-hyperactivity disorder//bipolar disorder//major depressive disorder//and schizophrenia (combined) by using GWAS analysis in 6,990 european ancestry bipolar disorder cases//9,227 european ancestry major depressive disorder cases//9,379 european ancestry schizophrenia cases//161 european ancestry autism spectrum disorder cases//4,788 european ancestry autism spectrum disorder trio cases//840 european ancestry attention deficit-hyperactivity disorder cases//1,947 european ancestry attention defcit-hyperactivity disorder trio cases//27,888 european ancestry controls(p-value = 2E-7 ;OR = ?). 0.4 Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis. genome-wide association analysis NONHSAT208965.1 lncRNA Mental or behavioural disorder 0.33 CCGGCCGGAT(G > A)CAATGGCTCA chr6: 30945681 0.9615,0.03854 0.90198139653414882,0.09801860346585117 Region score:0.38; TSS score:0.06; Unmatched score:0.13; Average GERP:0.10626732673267329 GeneName:HCG21; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000233529; TranscriptID:ENST00000419481; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MUCL3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000168631; TranscriptID:ENST00000462446; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SFTA2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000196260; TranscriptID:ENST00000634371; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002818 25434007 MIR137 rs543885789 T Dominant 2,610 SZ cases and 2,611 controls of European ancestry EFO_0000289 N/A increasing risk bipolar disorder rs543885789-T of hsa-mir-137 and its dysfunction is significantly associated with the increasing risk of Bipolar disorder by using case-control analysis in 2,610 SZ cases and 2,611 controls of European ancestry 0.9 A rare functional noncoding variant at the GWAS-implicated MIR137/MIR2682 locus might confer risk to schizophrenia and bipolar disorder. case-control analysis hsa-mir-137 miRNA Bipolar disorder 0.593 AAAGCTGCTA(A > G,T)GAAAATGGCT chr1: 98049983 0 0.99957791794087665,0.00000796381243628,0.00041411824668705 - GeneName:AC104453.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000285922; TranscriptID:ENST00000648602; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR137; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284202; TranscriptID:ENST00000385223; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR137HG; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000225206; TranscriptID:ENST00000634594; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR2682; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284247; TranscriptID:ENST00000580305; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000010436; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002819 24306027 miR-106b rs370912855 A Dominant 98 chronic lymphocytic leukemia patients(cll), additionally, the primary regions of mir-29b-2/29c and mir-16-1 were analyzed in another cohort of 213 and 193 cll patients EFO_0000095 N/A Increasing risk Chronic lymphocytic leukemia rs370912855-A of miR-106b and its dysfunction is significantly associated with the increasing risk of chronic lymphocytic leukemia by using case-control analysis in 98 chronic lymphocytic leukemia patients(CLL), Additionally, the primary regions of miR-29b-2/29c and miR-16-1 were analyzed in another cohort of 213 and 193 CLL patients. 0.4 Identification of novel sequence variations in microRNAs in chronic lymphocytic leukemia. case-control analysis hsa-mir-106b miRNA Chronic lymphocytic leukemia 0.33 GCGGTAGCAC(G > A)GAGAGGACCA chr7: 100094030 0.9998,0.0001997 0.99996814475025484,0.00003185524974515 N/A GeneName:COPS6; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000168090; TranscriptID:ENST00000303904; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MCM7; CADD-Score:2; Consquence:intron; GeneID:ENSG00000166508; TranscriptID:ENST00000303887; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR106B; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000208036; TranscriptID:ENST00000385301; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR25; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207547; TranscriptID:ENST00000384816; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR93; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207757; TranscriptID:ENST00000385024; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002820 19851984 miR-30c-1 rs16827546 T N/a 144 opl patients and 136 matched controls EFO_0006566 N/A No significance for risk Oral premalignant lesions rs16827546-T of miR-30c-1 and its dysfunction is not significantly associated with oral premalignant lesions by using case-control analysis in 144 OPL patients and 136 matched controls. -0.4 Genetic variation in MicroRNA genes and risk of oral premalignant lesions. case-control analysis hsa-mir-30c-1 miRNA Dysplastic oral keratinocyte -0.33 ACACAGGTCA(C > T)TCCGGATCAG chr1: 40757217 0.9213,0.07867 0.92405708460754332,0.07594291539245667 Region score:0.7; TSS score:0.51; Unmatched score:0.7; Average GERP:1.7444316831683169 GeneName:MIR30C1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207962; TranscriptID:ENST00000385227; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR30E; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000198974; TranscriptID:ENST00000362104; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NFYC; CADD-Score:2; Consquence:intron; GeneID:ENSG00000066136; TranscriptID:ENST00000308733; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002821 23740937 NONHSAT018763.2 rs1355223 ? N/A up to 2,761 european ancestry systemic sclerosis cases//769 european ancestry systemic lupus erythematosus cases//7,381 european ancestry controls; up to 1,578 european ancestry systemic sclerosis cases//1,727 european ancestry systemic lupus erythematosus cases//6,893 european ancestry controls EFO_0002690 N/A Associate Systemic lupus erythematosus and systemic sclerosis rs1355223-? of NONHSAT018763.2 is significantly associated with the systemic lupus erythematosus and systemic sclerosis by using GWAS analysis in up to 2,761 european ancestry systemic sclerosis cases//769 european ancestry systemic lupus erythematosus cases//7,381 european ancestry controls; up to 1,578 european ancestry systemic sclerosis cases//1,727 european ancestry systemic lupus erythematosus cases//6,893 european ancestry controls(p-value = 4E-6 ;OR = 1.12). 0.4 A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci. genome-wide association analysis NONHSAT018763.2 lncRNA Systemic lupus erythematosus 0.33 AGATGAAGGA(A > G)AATCCCCTTG chr11: 34742932 0.7061,0.2939 0.59715054791029561,0.40284945208970438 Region score:0.36; TSS score:0.12; Unmatched score:0.07; Average GERP:-0.23394356435643557 GeneName:AL359999.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000270491; TranscriptID:ENST00000604513; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002822 19838195 NONHSAT161117.1 rs10742326 G N/A 1,310 european ancestry cases//7,859 european ancestry controls; 1,963 european ancestry cases//4,329 european ancestry controls EFO_0002690 N/A Associate Systemic lupus erythematosus rs10742326-G of NONHSAT161117.1 is significantly associated with the systemic lupus erythematosus by using GWAS analysis in 1,310 european ancestry cases//7,859 european ancestry controls; 1,963 european ancestry cases//4,329 european ancestry controls(p-value = 4E-6 ;OR = 1.14). 0.4 A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus. genome-wide association analysis NONHSAT161117.1 lncRNA Systemic lupus erythematosus 0.33 CCATCAATCA(G > A)TGCAGGAGGG chr11: 34788463 0.6086,0.3914 0.60077408256880733,0.39922591743119266 Region score:0.2; TSS score:0.14; Unmatched score:0.06; Average GERP:-0.17876907216494836 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000427866; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002823 29878850 AC007603.1 rs4785367 C Recessive 395 lung cancer cases and 556 controls in a chinese never-smoking female population EFO_0001071 N/A Decreasing risk Lung cancer rs4785367-C of AC007603.1 and its dysfunction is significantly associated with the decreasing risk of Lung Cancer by using case-control analysis in 395 Lung Cancer cases and 556 controls in a Chinese Never-Smoking Female Population. 0.4 Association Between Four Polymorphisms in lncRNA and Risk of Lung Cancer in a Chinese Never-Smoking Female Population. case-control analysis AC007603.1 lncRNA Lung cancer 0.33 AATCTTGCGG(T > C)CCATTGCCAG chr16: 49922283 0.4744,0.5256 0.47768539755351681,0.52231460244648318 Region score:0.4; TSS score:0.33; Unmatched score:0.46; Average GERP:-0.04516633663366333 GeneName:AC007603.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000261751; TranscriptID:ENST00000563124; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000280815; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002824 28443625 NONHSAT218901.1 rs6470765 A N/A 97,400 european ancestry women//63,892 european ancestry men//5,829 european ancestry individuals//10,500 african american/afro-caribbean ancestry women//2,706 african american/afro-caribbean ancestry men//1,030 indian asian ancestry women//7,648 indian asian ancestry men//1,793 filipino ancestry women//2,944 hispanic/latino ancestry women//1,764 hispanic/latino ancestry men; 21,496 european ancestry women//24,385 european ancestry men//118,364 european ancestry individuals//2,326 african american/afro-caribbean ancestry women//855 african american/afro-caribbean ancestry men EFO_0007789 adjusted for BMI (adjusted for smoking behaviour) Associate Waist circumference adjusted for bmi (adjusted for smoking behaviour) rs6470765-A of NONHSAT218901.1 is significantly associated with the waist circumference adjusted for bmi (adjusted for smoking behaviour) by using GWAS analysis in 97,400 european ancestry women//63,892 european ancestry men//5,829 european ancestry individuals//10,500 african american/afro-caribbean ancestry women//2,706 african american/afro-caribbean ancestry men//1,030 indian asian ancestry women//7,648 indian asian ancestry men//1,793 filipino ancestry women//2,944 hispanic/latino ancestry women//1,764 hispanic/latino ancestry men; 21,496 european ancestry women//24,385 european ancestry men//118,364 european ancestry individuals//2,326 african american/afro-caribbean ancestry women//855 african american/afro-caribbean ancestry men(p-value = 3E-12 ;OR = 0.024). 0.4 Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits. genome-wide association analysis NONHSAT218901.1 lncRNA Bmi-adjusted waist circumference 0.33 TACAATAACA(A > C,T)TTTGTTTGCA chr8: 129724451 0.4663,0.5337,. 0.60696992864424057,0.39303007135575942,. Region score:0.27; TSS score:0.36; Unmatched score:0.13; Average GERP:-0.10815841584158416 GeneName:AC103718.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000285108; TranscriptID:ENST00000646849; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MTRF1LP2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000224110; TranscriptID:ENST00000506027; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002825 26584805 NONHSAT210354.1 rs4476815 G N/A 717 singaporean chinese ancestry myocardial infarction cases//644 singaporean chinese ancestry controls EFO_0000319 N/A Associate Plasma omega-6 polyunsaturated fatty acid levels (linoleic acid) rs4476815-G of NONHSAT210354.1 is significantly associated with the plasma omega-6 polyunsaturated fatty acid levels (linoleic acid) by using GWAS analysis in 717 singaporean chinese ancestry myocardial infarction cases//644 singaporean chinese ancestry controls(p-value = 4E-7 ;OR = 0.0537). 0.4 A genome-wide association study of n-3 and n-6 plasma fatty acids in a Singaporean Chinese population. genome-wide association analysis NONHSAT210354.1 lncRNA Cardiovascular disease 0.33 TCTTTGATTG(G > C)AAATGAATAT chr6: 26259842 0.9581,0.04193 0.96087378950050968,0.03912621049949031 Region score:0.25; TSS score:0.37; Unmatched score:0.27; Average GERP:0.11359405940594033 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002826 26379185 NONHSAT153828.1 rs12143151 ? N/A 107 european ancestry mild cases//549 european ancestry population controls EFO_1001488 N/A Associate Mild influenza (h1n1) infection rs12143151-? of NONHSAT153828.1 is significantly associated with the mild influenza (h1n1) infection by using GWAS analysis in 107 european ancestry mild cases//549 european ancestry population controls(p-value = 1E-9 ;OR = 4.231). 0.4 No Major Host Genetic Risk Factor Contributed to A(H1N1)2009 Influenza Severity. genome-wide association analysis NONHSAT153828.1 lncRNA Influenza a (h1n1) 0.33 TTTTGCATTG(G > A,C)GCACAGTGAA chr1: 82478098 0.974,0.02596,. 0.95329224006116207,0.04665997706422018,0.00004778287461773 Region score:0.46; TSS score:0.17; Unmatched score:0.03; Average GERP:-0.27124950495049505 GeneName:AL157944.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000233290; TranscriptID:ENST00000650063; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002827 22778062 SNORD124 rs4795422 T N/a N/a function N/A Not significant changes in the structure Function rs4795422-T of SNORD124 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD124 snoRNA Function -0.049 GCTCAGAATC(C > T)TTTTCTTGAG chr17: 40027601 0.9972,0.002796 0.99845502038735983,0.00154497961264016 Region score:0.73; TSS score:0.36; Unmatched score:0.67; Average GERP:2.769070396039605 GeneName:MED24; CADD-Score:2; Consquence:intron; GeneID:ENSG00000008838; TranscriptID:ENST00000501516; AnnoType:INTRONIC; mirSVR-Score:-0.6592; mirSVR-E:-15.04 | GeneName:MIR6884; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000283721; TranscriptID:ENST00000614287; AnnoType:UPSTREAM; mirSVR-Score:-0.6592; mirSVR-E:-15.04 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000555257; AnnoType:REGULATORY; mirSVR-Score:-0.6592; mirSVR-E:-15.04 | GeneName:SNORD124; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000238793; TranscriptID:ENST00000459577; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.6592; mirSVR-E:-15.04 | NCRV0000002828 23967269 NONHSAT183664.1 rs1843834 A N/A 329 korean ancestry d.p.-positive cases//548 korean ancestry d.p.-negative cases EFO_0000270 N/A Associate Ige levels in asthmatics (d.p. specific) rs1843834-A of NONHSAT183664.1 is significantly associated with the ige levels in asthmatics (d.p. specific) by using GWAS analysis in 329 korean ancestry d.p.-positive cases//548 korean ancestry d.p.-negative cases(p-value = 4E-6 ;OR = 2.14). 0.4 A genome-wide association study of total serum and mite-specific IgEs in asthma patients. genome-wide association analysis NONHSAT183664.1 lncRNA Asthma 0.33 TAGGAGGCAC(A > G)GAGAGATTAG chr2: 224693325 0.2486,0.7514 0.28338430173292558,0.71661569826707441 Region score:0.24; TSS score:0.08; Unmatched score:0; Average GERP:-0.8722188118811882 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002829 25575512 NONHSAT211304.1 rs17086702 ? N/A 1,376 old order amish individuals EFO_0000319 N/A Associate Lipoprotein (a) - cholesterol levels rs17086702-? of NONHSAT211304.1 is significantly associated with the lipoprotein (a) - cholesterol levels by using GWAS analysis in 1,376 old order amish individuals(p-value = 4E-9 ;OR = ?). 0.4 Evidence for several independent genetic variants affecting lipoprotein (a) cholesterol levels. genome-wide association analysis NONHSAT211304.1 lncRNA Cardiovascular disease 0.33 TGACATGTTG(G > T)AGAAATCCTG chr6: 155829599 0.9774,0.02256 0.98592794342507645,0.01407205657492354 Region score:0.54; TSS score:0.37; Unmatched score:0.12; Average GERP:-0.6600990099009901 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002830 27846195 NONHSAT165617.1 rs181534711 G N/A 1,390 european ancestry individuals EFO_0000692 paliperidone Associate Response to paliperidone in schizophrenia (panss score) rs181534711-G of NONHSAT165617.1 is significantly associated with the response to paliperidone in schizophrenia (panss score) by using GWAS analysis in 1,390 european ancestry individuals(p-value = 3E-8 ;OR = 20.6563). 0.4 Genome-wide association study of paliperidone efficacy. genome-wide association analysis NONHSAT165617.1 lncRNA Schizophrenia 0.33 GAAATGCAAT(G > A)AAACAAATTA chr13: 44069329 0.9984,0.001597 0.99332632517838939,0.00667367482161060 Region score:0.38; TSS score:0.25; Unmatched score:0.12; Average GERP:-0.4360336633663367 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000062091; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002831 28928442 NONHSAT199005.1 rs183838363 ? N/A 4,426 european ancestry cases//84,290 european ancestry controls EFO_0008407 N/A Associate Tuberculosis rs183838363-? of NONHSAT199005.1 is significantly associated with the tuberculosis by using GWAS analysis in 4,426 european ancestry cases//84,290 european ancestry controls(p-value = 3E-6 ;OR = 0.5231). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. genome-wide association analysis NONHSAT199005.1 lncRNA Susceptibility to mycobacterium tuberculosis infection measurement 0.33 GGTAAAATCT(G > T)TGATTTAAGA chr4: 120002322 0.997,0.002995 0.99454478848114169,0.00545521151885830 Region score:0.45; TSS score:0.19; Unmatched score:0.05; Average GERP:0.1912762376237624 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002832 27863252 NONHSAT217884.1 rs7826487 G N/A 171,846 european ancestry individuals EFO_0005090 N/A Associate White blood cell count (basophil) rs7826487-G of NONHSAT217884.1 is significantly associated with the white blood cell count (basophil) by using GWAS analysis in 171,846 european ancestry individuals(p-value = 2E-14 ;OR = 0.04210421). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT217884.1 lncRNA Basophil count 0.33 GCCTCTCTAT(A > G)ATATTGTTGA chr8: 7023403 0.8401,0.1599 0.83071323904179408,0.16928676095820591 Region score:0.3; TSS score:0.29; Unmatched score:0.14; Average GERP:-0.018247524752475222 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002833 28067908 NONHSAT216433.1 rs6651252 ? N/A 12,194 european and unknown ancestry cases//28,072 european and unknown ancestry controls EFO_0000384 N/A Associate Crohn's disease rs6651252-? of NONHSAT216433.1 is significantly associated with the crohn's disease by using GWAS analysis in 12,194 european and unknown ancestry cases//28,072 european and unknown ancestry controls(p-value = 9E-11 ;OR = ?). 0.4 Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease. genome-wide association analysis NONHSAT216433.1 lncRNA Crohn's disease 0.565 AAAAGTGGGC(T > C)CTTTGAAATG chr8: 128554935 0.8476,0.1524 0.81607575178389398,0.18392424821610601 Region score:0.59; TSS score:0.59; Unmatched score:0.6; Average GERP:0.31220297029702965 GeneName:LINC00824; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000254275; TranscriptID:ENST00000523173; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002833 21102463 NONHSAT216433.1 rs6651252 T N/A 6,333 european ancestry cases//15,056 european ancestry controls; 15,694 european ancestry cases//14,026 european ancestry controls//414 european ancestry trios EFO_0000384 N/A Associate Crohn's disease rs6651252-T of NONHSAT216433.1 is significantly associated with the crohn's disease by using GWAS analysis in 6,333 european ancestry cases//15,056 european ancestry controls; 15,694 european ancestry cases//14,026 european ancestry controls//414 european ancestry trios(p-value = 4E-18 ;OR = 1.23). 0.4 Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. genome-wide association analysis NONHSAT216433.1 lncRNA Crohn's disease 0.565 AAAAGTGGGC(T > C)CTTTGAAATG chr8: 128554935 0.8476,0.1524 0.81607575178389398,0.18392424821610601 Region score:0.59; TSS score:0.59; Unmatched score:0.6; Average GERP:0.31220297029702965 GeneName:LINC00824; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000254275; TranscriptID:ENST00000523173; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002833 26192919 NONHSAT216433.1 rs6651252 G N/A 5,956 european ancestry cases//14,927 european ancestry controls; 14,594 european ancestry cases//26,715 european ancestry controls//151 iranian ancestry cases//342 iranian ancestry controls//184 indian ancestry cases//990 indian ancestry controls//1,690 east asian ancestry cases//3,719 east asian ancestry controls EFO_0000384 N/A Associate Crohn's disease rs6651252-G of NONHSAT216433.1 is significantly associated with the crohn's disease by using GWAS analysis in 5,956 european ancestry cases//14,927 european ancestry controls; 14,594 european ancestry cases//26,715 european ancestry controls//151 iranian ancestry cases//342 iranian ancestry controls//184 indian ancestry cases//990 indian ancestry controls//1,690 east asian ancestry cases//3,719 east asian ancestry controls(p-value = 4E-16 ;OR = 1.1607062). 0.4 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. genome-wide association analysis NONHSAT216433.1 lncRNA Crohn's disease 0.565 AAAAGTGGGC(T > C)CTTTGAAATG chr8: 128554935 0.8476,0.1524 0.81607575178389398,0.18392424821610601 Region score:0.59; TSS score:0.59; Unmatched score:0.6; Average GERP:0.31220297029702965 GeneName:LINC00824; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000254275; TranscriptID:ENST00000523173; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002833 23128233 NONHSAT216433.1 rs6651252 T N/A up to 12,924 european ancestry cases//up to 21,442 european ancestry controls; up to 25,683 european ancestry cases//up to 17,015 european ancestry controls EFO_0000384 N/A Associate Crohn's disease rs6651252-T of NONHSAT216433.1 is significantly associated with the crohn's disease by using GWAS analysis in up to 12,924 european ancestry cases//up to 21,442 european ancestry controls; up to 25,683 european ancestry cases//up to 17,015 european ancestry controls(p-value = 1E-16 ;OR = 1.185). 0.4 Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. genome-wide association analysis NONHSAT216433.1 lncRNA Crohn's disease 0.565 AAAAGTGGGC(T > C)CTTTGAAATG chr8: 128554935 0.8476,0.1524 0.81607575178389398,0.18392424821610601 Region score:0.59; TSS score:0.59; Unmatched score:0.6; Average GERP:0.31220297029702965 GeneName:LINC00824; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000254275; TranscriptID:ENST00000523173; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002834 29077507 NONHSAT167916.1 rs75900232 G N/A 677 african american women//544 african american men//115 asian women//113 asian men//1,825 european ancestry women//3,902 european ancestry men// 7,492 hispanic women//5,065 hispanic men EFO_0003918 N/A Associate Obstructive sleep apnea trait (apnea hypopnea index) rs75900232-G of NONHSAT167916.1 is significantly associated with the obstructive sleep apnea trait (apnea hypopnea index) by using GWAS analysis in 677 african american women//544 african american men//115 asian women//113 asian men//1,825 european ancestry women//3,902 european ancestry men// 7,492 hispanic women//5,065 hispanic men(p-value = 7E-7 ;OR = 0.307). 0.4 Multiethnic Meta-Analysis Identifies RAI1 as a Possible Obstructive Sleep Apnea-related Quantitative Trait Locus in Men. genome-wide association analysis NONHSAT167916.1 lncRNA Obstructive sleep apnea 0.33 AGGCTTCCAT(A > G)ACAAAATATC chr13: 90846545 0.9954,0.004593 0.99035582313965341,0.00964417686034658 Region score:0.24; TSS score:0.29; Unmatched score:0.19; Average GERP:-0.140219 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002835 27328823 mir-633 rs17759989 G N/a 17,008 ad cases and 37,154 controls EFO_0000249 N/A Increasing risk Alzheimer's disease rs17759989-G of mir-633 and its dysfunction is significantly associated with the increasing risk of Alzheimer's disease by using case-control analysis in 17,008 AD cases and 37,154 controls. 0.4 Genome-wide identification of microRNA-related variants associated with risk of Alzheimer's disease. case-control analysis hsa-mir-633 miRNA Alzheimers disease 0.33 ATTGCGGTAG(A > G)TACTATTAAC chr17: 62944250 0.9766,0.02336 0.97403000764525993,0.02596999235474006 Region score:0.51; TSS score:0.04; Unmatched score:0.26; Average GERP:0.1871425742574257 GeneName:AC005972.3; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000283538; TranscriptID:ENST00000650312; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR633; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207552; TranscriptID:ENST00000384821; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002836 23632240 miR-34b/c rs4938723 C Dominant 157 hcc patients and 201 cancer-free control subjects EFO_0000182 N/A Increasing risk Hepatocellular carcinoma rs4938723-C of miR-34b/c and its dysfunction is significantly associated with the increasing risk of hepatocellular carcinoma by using case-control analysis in 157 HCC patients and 201 cancer-free control subjects. 0.4 Promoter polymorphisms of pri-miR-34b/c are associated with hepatocellular carcinoma. case-control analysis hsa-mir-34b miRNA Hepatocellular cancer 0.33 TTTGACCTAT(T > C)ACAGCTCTCA chr11: 111511840 0.7143,0.2857 0.67424025229357798,0.32575974770642201 Region score:0.24; TSS score:0.41; Unmatched score:0.71; Average GERP:-0.7293356435643562 GeneName:AP002008.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000254980; TranscriptID:ENST00000530283; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:BTG4; CADD-Score:2; Consquence:intron; GeneID:ENSG00000137707; TranscriptID:ENST00000356018; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:C11orf88; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000183644; TranscriptID:ENST00000332814; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR34B; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207811; TranscriptID:ENST00000385076; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR34C; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207562; TranscriptID:ENST00000384831; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002837 26198764 NONHSAT095883.2 rs6825268 G N/A 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls EFO_0000692 N/A Associate Schizophrenia rs6825268-G of NONHSAT095883.2 is significantly associated with the schizophrenia by using GWAS analysis in 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls(p-value = 4E-7 ;OR = 1.0526316). 0.4 Genome-wide association study of schizophrenia in Ashkenazi Jews. genome-wide association analysis NONHSAT095883.2 lncRNA Schizophrenia 0.33 ATTCAGGATT(A > C,G,T)GGCAAATGTT chr4: 26781831 0.5571,.,0.4429,. 0.57212028542303771,0.00001592762487257,0.41399082568807339,0.01387296126401630 Region score:0.34; TSS score:0.41; Unmatched score:0.14; Average GERP:-0.14702475247524754 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000720255; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002838 26219847 NONHSAT083312.2 rs11914070 T N/A 2,946 individuals EFO_0007680 N/A Associate Gait variability rs11914070-T of NONHSAT083312.2 is significantly associated with the gait variability by using GWAS analysis in 2,946 individuals(p-value = 2E-7 ;OR = 0.136). 0.4 Heritability and Genome-Wide Association Analyses of Human Gait Suggest Contribution of Common Variants. genome-wide association analysis NONHSAT083312.2 lncRNA Gait measurement 0.33 TGTCAGACCC(C > T)CGGCACAGAG chr22: 18978115 0.8488,0.1512 0.75754173037716615,0.24245826962283384 Region score:0.31; TSS score:0.22; Unmatched score:0.11; Average GERP:0.06976237623762384 GeneName:AC007326.3; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000283583; TranscriptID:ENST00000636418; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:DGCR5; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000237517; TranscriptID:ENST00000438934; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:DGCR9; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000273032; TranscriptID:ENST00000440005; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002839 28928442 NONHSAT197437.1 rs4682463 ? N/A 40,600 european ancestry cases//90,039 european ancestry controls EFO_0008410 N/A Associate Pneumonia rs4682463-? of NONHSAT197437.1 is significantly associated with the pneumonia by using GWAS analysis in 40,600 european ancestry cases//90,039 european ancestry controls(p-value = 4E-6 ;OR = 0.156). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. genome-wide association analysis NONHSAT197437.1 lncRNA Susceptibility to pneumonia measurement 0.33 ATAAATCTAC(A > T)TCATTCAACT chr3: 109896883 0.9852,0.01478 0.98027363659531090,0.01972636340468909 Region score:0.37; TSS score:0.04; Unmatched score:0.01; Average GERP:0.2880032673267327 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002840 21743469 NONHSAT026062.2 rs11616188 A N/A 3,023 european ancestry cases//8,779 european ancestry controls; 2,111 european ancestry cases//4,483 european ancestry controls EFO_0003898 N/A Associate Ankylosing spondylitis rs11616188-A of NONHSAT026062.2 is significantly associated with the ankylosing spondylitis by using GWAS analysis in 3,023 european ancestry cases//8,779 european ancestry controls; 2,111 european ancestry cases//4,483 european ancestry controls(p-value = 4E-12 ;OR = ?). 0.4 Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility. genome-wide association analysis NONHSAT026062.2 lncRNA Ankylosing spondylitis 0.33 TGCCACCTAT(G > A)TCTTCACATG chr12: 6393576 0.7901,0.2099 0.72718367737003058,0.27281632262996941 Region score:0.22; TSS score:0.08; Unmatched score:0.3; Average GERP:-0.1652177227722773 GeneName:AC005840.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000256433; TranscriptID:ENST00000541888; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LTBR; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000111321; TranscriptID:ENST00000228918; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000048298; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002841 22778062 SNORD115-5 rs34859712 T N/a N/a function N/A Not significant changes in the structure Function rs34859712-T of SNORD115-5 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD115-5 snoRNA Function -0.049 AATAGGATTA(C > A,T)GCTGAGGCCC chr15: 25178809 0.8037,.,0.1963 0.84480122324159021,.,0.15519877675840978 Region score:0.22; TSS score:0.14; Unmatched score:0.52; Average GERP:-0.09773980198019805 GeneName:SNHG14; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000224078; TranscriptID:ENST00000447911; AnnoType:UPSTREAM; mirSVR-Score:-0.0135; mirSVR-E:-17.97 | GeneName:SNORD115-3; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000199970; TranscriptID:ENST00000363100; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0135; mirSVR-E:-17.97 | GeneName:SNORD115-4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000200680; TranscriptID:ENST00000363810; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0135; mirSVR-E:-17.97 | GeneName:SNORD115-5; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000200503; TranscriptID:ENST00000363633; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0135; mirSVR-E:-17.97 | GeneName:SNORD115-6; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000200812; TranscriptID:ENST00000363942; AnnoType:UPSTREAM; mirSVR-Score:-0.0135; mirSVR-E:-17.97 | GeneName:SNORD115-7; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000278089; TranscriptID:ENST00000365306; AnnoType:UPSTREAM; mirSVR-Score:-0.0135; mirSVR-E:-17.97 | NCRV0000002842 27989323 NONHSAT193299.1 rs2027855 C N/A 8,153 finnish ancestry individuals EFO_0008122 N/A Associate Eotaxin levels rs2027855-C of NONHSAT193299.1 is significantly associated with the eotaxin levels by using GWAS analysis in 8,153 finnish ancestry individuals(p-value = 5E-6 ;OR = 0.0736). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. genome-wide association analysis NONHSAT193299.1 lncRNA Eotaxin measurement 0.33 CTTCTGGAAC(C > T)CAGGGCTTCC chr22: 47441763 0.3938,0.6062 0.31891086901121304,0.68108913098878695 Region score:0.33; TSS score:0.16; Unmatched score:0.09; Average GERP:-0.8127150495049503 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002843 28429243 NONHSAT161941.1 rs4149056 C N/A 707 european ancestry postmenopausal cases//52 african ancestry postmenopausal cases//15 asian ancestry postmenopausal cases EFO_0007971 N/A Associate Plasma estrone conjugates levels in resected early stage estrogen-receptor positive breast cancer rs4149056-C of NONHSAT161941.1 is significantly associated with the plasma estrone conjugates levels in resected early stage estrogen-receptor positive breast cancer by using GWAS analysis in 707 european ancestry postmenopausal cases//52 african ancestry postmenopausal cases//15 asian ancestry postmenopausal cases(p-value = 4E-11 ;OR = 0.5). 0.4 SLCO1B1 polymorphisms and plasma estrone conjugates in postmenopausal women with ER+ breast cancer: genome-wide association studies of the estrone pathway. genome-wide association analysis NONHSAT161941.1 lncRNA Estrone conjugate measurement 0.33 TGGATATATG(T > C)GTTCATGGGT chr12: 21178615 0.9123,0.08766 0.88942246432212028,0.11057753567787971 Region score:0.23; TSS score:0.25; Unmatched score:0.35; Average GERP:1.2973861386138623 GeneName:AC022335.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000257062; TranscriptID:ENST00000543498; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SLCO1B1; CADD-Score:7; Consquence:missense; GeneID:ENSG00000134538; TranscriptID:ENST00000256958; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002844 19851984 miR-492 rs2289030 G N/a 139 opl patients and 136 matched controls EFO_0006566 N/A No significance for risk Oral premalignant lesions rs2289030-G of miR-492 and its dysfunction is not significantly associated with oral premalignant lesions by using case-control analysis in 139 OPL patients and 136 matched controls. -0.4 Genetic variation in MicroRNA genes and risk of oral premalignant lesions. case-control analysis hsa-mir-492 miRNA Dysplastic oral keratinocyte -0.33 ACTGGCTGCA(G > C)ATGACTTCTG chr12: 94834510 0.8856,0.1144 0.93300840978593272,0.06699159021406727 Region score:0.46; TSS score:0.27; Unmatched score:0.47; Average GERP:0.04842574257425743 GeneName:KRT19P2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000216306; TranscriptID:ENST00000557173; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.5124; mirSVR-E:-22.60 | GeneName:MIR492; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000283998; TranscriptID:ENST00000638676; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.5124; mirSVR-E:-22.60 | NCRV0000002845 24995424 miR-122 rs4309483 A Dominant 1,300 HBV-positive HCC cases, 1,344 HBV carriers, and 1,344 persons who cleared HBV naturally EFO_0000182 N/A increasing risk hepatocellular carcinoma rs4309483-A of hsa-mir-122 and its dysfunction is significantly associated with the increasing risk of Hepatocellular carcinoma by using case-control analysis in 1,300 HBV-positive HCC cases, 1,344 HBV carriers, and 1,344 persons who cleared HBV naturally 0.9 A genetic variant in microRNA-122 regulatory region confers risk for chronic hepatitis B virus infection and hepatocellular carcinoma in Han Chinese. case-control analysis hsa-mir-122 miRNA Hepatocellular carcinoma 0.593 CATCACCGCC(A > C)CTTAAGGAGA chr18: 58418685 0.3199,0.6801 0.29948713047910295,0.70051286952089704 Region score:0.39; TSS score:0.22; Unmatched score:0.06; Average GERP:-0.26521990099009907 GeneName:AC105105.2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000267675; TranscriptID:ENST00000585470; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002846 23563607 NONHSAT213098.1 rs798554 C N/A 8,097 european ancestry tall individuals//8,099 european ancestry short individuals; 4,872 european ancestry tall individuals//4,831 european ancestry short individuals EFO_0004339 N/A Associate Height rs798554-C of NONHSAT213098.1 is significantly associated with the height by using GWAS analysis in 8,097 european ancestry tall individuals//8,099 european ancestry short individuals; 4,872 european ancestry tall individuals//4,831 european ancestry short individuals(p-value = 4E-23 ;OR = 1.24). 0.4 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. genome-wide association analysis NONHSAT213098.1 lncRNA Body height 0.33 GTGCAAAGCG(C > T)GGCTCCCCTC chr7: 2720161 0.7957,0.2043 0.76206517584097859,0.23793482415902140 Region score:0.23; TSS score:0.26; Unmatched score:0.48; Average GERP:-0.6672990099009901 GeneName:AMZ1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000174945; TranscriptID:ENST00000312371; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000814939; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002847 22778062 SNORD116-10 rs74699658 T N/A N/A function N/A not significant changes in the structure function rs74699658-T of SNORD116-10 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in nan -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD116-10 snoRNA function -0.049 - - - - - - NCRV0000002848 28641744 NONHSAT144606.2 rs4785741 T N/A 2,998 european ancestry obsessive-compulsive disorder cases//6,898 european ancestry autism spectrum disorder cases EFO_0004242 N/A Associate Obsessive-compulsive disorder or autism spectrum disorder rs4785741-T of NONHSAT144606.2 is significantly associated with the obsessive-compulsive disorder or autism spectrum disorder by using GWAS analysis in 2,998 european ancestry obsessive-compulsive disorder cases//6,898 european ancestry autism spectrum disorder cases(p-value = 7E-7 ;OR = 70.9925). 0.4 Polygenic risk score and heritability estimates reveals a genetic relationship between ASD and OCD. genome-wide association analysis NONHSAT144606.2 lncRNA Obsessive-compulsive disorder 0.33 GAACTGGAGC(T > C)ACAGGAGAGG chr16: 89939045 0.3756,0.6244 0.52263315494393476,0.47736684505606523 Region score:0.27; TSS score:0.45; Unmatched score:0.42; Average GERP:0 GeneName:AC092143.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000198211; TranscriptID:ENST00000556922; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000546419; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TUBB3; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000258947; TranscriptID:ENST00000315491; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002849 22005931 NONHSAT177873.1 rs1037757 ? N/A 1,190 european ancestry cases//1,032 cases EFO_0000249 N/A Associate Alzheimer's disease (age of onset) rs1037757-? of NONHSAT177873.1 is significantly associated with the alzheimer's disease (age of onset) by using GWAS analysis in 1,190 european ancestry cases//1,032 cases(p-value = 8E-6 ;OR = 4.5618). 0.4 Genome-wide association analysis of age-at-onset in Alzheimer's disease. genome-wide association analysis NONHSAT177873.1 lncRNA Alzheimers disease 0.33 AGGGAGATCC(G > A,C)TGTGGAGGTC chr18: 59084822 N/A 0.92220151630988786,0.02808040265035677,0.04971808103975535 Region score:0.36; TSS score:0.22; Unmatched score:0.09; Average GERP:-0.38587128712871294 GeneName:AC040963.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000267215; TranscriptID:ENST00000589729; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000286335; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002850 22703881 NONHSAT200819.1 rs2289252 C N/A 9,240 european ancestry individuals; 2611 european ancestry individuals EFO_0000378 N/A Associate Activated partial thromboplastin time rs2289252-C of NONHSAT200819.1 is significantly associated with the activated partial thromboplastin time by using GWAS analysis in 9,240 european ancestry individuals; 2611 european ancestry individuals(p-value = 6E-43 ;OR = 0.483). 0.4 Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease. genome-wide association analysis NONHSAT200819.1 lncRNA Coronary artery disease 0.33 GTCTCTCTCT(C > T)GCCCTCTCAT chr4: 186286227 0.6805,0.3195 0.64966392711518858,0.35033607288481141 Region score:0.4; TSS score:0.33; Unmatched score:0.68; Average GERP:-1.7349178217821788 GeneName:F11-AS1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000251165; TranscriptID:ENST00000505103; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:F11; CADD-Score:2; Consquence:intron; GeneID:ENSG00000088926; TranscriptID:ENST00000403665; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002851 27863252 NONHSAT031256.2 rs2255531 A N/A 164,339 european ancestry individuals EFO_0007985 N/A Associate Plateletcrit rs2255531-A of NONHSAT031256.2 is significantly associated with the plateletcrit by using GWAS analysis in 164,339 european ancestry individuals(p-value = 4E-16 ;OR = 0.03117565). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT031256.2 lncRNA Plateletcrit 0.33 TAATTCTTTG(G > A)GGTTTTGCAT chr12: 120977112 0.6258,0.3742 0.65155931447502548,0.34844068552497451 Region score:0.22; TSS score:0.17; Unmatched score:0.37; Average GERP:0.023058415841584166 GeneName:HNF1A-AS1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000241388; TranscriptID:ENST00000539163; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HNF1A; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000135100; TranscriptID:ENST00000544413; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002852 27863252 NONHSAT174709.1 rs62045844 T N/A 172,433 european ancestry individuals EFO_0004526 N/A Associate Mean corpuscular volume rs62045844-T of NONHSAT174709.1 is significantly associated with the mean corpuscular volume by using GWAS analysis in 172,433 european ancestry individuals(p-value = 9E-16 ;OR = 0.06368266). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT174709.1 lncRNA Mean corpuscular volume 0.33 GCTCTTCCAG(C > T)CTCCATTCCA chr16: 89018519 0.9852,0.01478 0.96489551478083588,0.03510448521916411 Region score:0.4; TSS score:0.35; Unmatched score:0.23; Average GERP:-0.23787128712871303 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002853 26634245 NONHSAT205857.1 rs115559601 T N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio rs115559601-T of NONHSAT205857.1 is significantly associated with the post bronchodilator fev1/fvc ratio by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 2E-6 ;OR = 0.102). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT205857.1 lncRNA Pulmonary function measurement 0.33 TATGAATGGC(A > T)TGTGTCTTCC chr5: 67223330 0.9976,0.002396 0.99795330020387359,0.00204669979612640 Region score:0.36; TSS score:0.34; Unmatched score:0.11; Average GERP:-0.7032188118811881 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002854 26956414 NONHSAT080583.2 rs76473307 A N/A 3,100 european ancestry cases//7,667 european ancestry controls; 1,958 cases// 5,530 controls EFO_0000095 N/A Associate Chronic lymphocytic leukemia rs76473307-A of NONHSAT080583.2 is significantly associated with the chronic lymphocytic leukemia by using GWAS analysis in 3,100 european ancestry cases//7,667 european ancestry controls; 1,958 cases// 5,530 controls(p-value = 7E-6 ;OR = 1.4285715). 0.4 Meta-analysis of genome-wide association studies discovers multiple loci for chronic lymphocytic leukemia. genome-wide association analysis NONHSAT080583.2 lncRNA Chronic lymphocytic leukemia 0.33 TCAGAGGACA(A > C)CGCAAGGCAT chr20: 58831013 0.9541,0.04593 0.95236047400611620,0.04763952599388379 Region score:0.43; TSS score:0.23; Unmatched score:0.16; Average GERP:-0.753680198019802 GeneName:AL132655.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000268333; TranscriptID:ENST00000601795; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GNAS-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000235590; TranscriptID:ENST00000443966; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002855 27863252 NONHSAT162404.1 rs1800973 A N/A 170,494 european ancestry individuals EFO_0007989 N/A Associate Monocyte percentage of white cells rs1800973-A of NONHSAT162404.1 is significantly associated with the monocyte percentage of white cells by using GWAS analysis in 170,494 european ancestry individuals(p-value = 4E-46 ;OR = 0.1056857). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT162404.1 lncRNA Monocypte percentage of leukocytes 0.33 GATGGCAAAA(C > A)CCCAGGAGCA chr12: 69350234 0.9854,0.01458 0.95797496177370030,0.04202503822629969 Region score:0.32; TSS score:0.4; Unmatched score:0.47; Average GERP:1.9191316831683143 GeneName:AC020656.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000257764; TranscriptID:ENST00000548900; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LYZ; CADD-Score:7; Consquence:missense; GeneID:ENSG00000090382; TranscriptID:ENST00000261267; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000053735; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002856 27089181 NONHSAT100237.2 rs62341806 T N/A 298,420 korculan (founder/genetic isolate)//split (founder/genetic isolate)//vis (founder/genetic isolate)//erasmus rucphen (founder/genetic isolate) and other european ancestry individuals EFO_0007869 N/A Associate Subjective well-being rs62341806-T of NONHSAT100237.2 is significantly associated with the subjective well-being by using GWAS analysis in 298,420 korculan (founder/genetic isolate)//split (founder/genetic isolate)//vis (founder/genetic isolate)//erasmus rucphen (founder/genetic isolate) and other european ancestry individuals(p-value = 7E-7 ;OR = 0.014930834). 0.4 Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses. genome-wide association analysis NONHSAT100237.2 lncRNA Wellbeing measurement 0.33 TGCTCCCGCT(C > G,T)CCGCATCTGC chr5: 7301261 0.638,.,0.362 0.62233212283384301,0.00162461773700305,0.37604325942915392 Region score:0.23; TSS score:0.07; Unmatched score:0.32; Average GERP:0 GeneName:AC091951.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000205976; TranscriptID:ENST00000512854; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC091951.3; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000251250; TranscriptID:ENST00000650000; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000747856; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002857 24413317 miR-146a rs2910164 C N/A 16399 cases and 21779 controls from seven published studies in eight common cancers EFO_0000311 N/A increasing risk cancer rs2910164-C of hsa-mir-146a and its dysfunction is significantly associated with the increasing risk of Cancer by using meta-analysis in 16399 cases and 21779 controls from seven published studies in eight common cancers 0.4 MicroRNA sequence polymorphisms and the risk of different types of cancer. meta-analysis hsa-mir-146a miRNA Cancer 0.503 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 0 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002857 24716941 miR-146a rs2910164 C N/a 524 subjects without cancer and 827 subjects with at least one type of cancer, such as gastric (n=160), lung (n=148), colorectal (n=116) or others. EFO_0000311 N/A No significance for risk Cancer rs2910164-C of miR-146a and its dysfunction is not significantly associated with cancer by using case-control analysis in 524 subjects without cancer and 827 subjects with at least one type of cancer, such as gastric (n=160), lung (n=148), colorectal (n=116) or others -0.4 Association analysis of single nucleotide polymorphisms in miR-146a and miR-196a2 on the prevalence of cancer in elderly Japanese: a case-control study. case-control analysis hsa-mir-146a miRNA Cancer 0.503 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 N/A 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002857 27397105 MIR146A rs2910164 G N/a Cancer cell lines EFO_0000311 N/A Decreasing risk Cancer rs2910164-G of MIR146A and its dysfunction is significantly associated with the decreasing risk of Cancer by using analysis of sequence variation in Cancer cell lines. By using the disease cell lines or tissues, the mutation of MIR146A has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 MicroRNA Genetic Variation: From Population Analysis to Functional Implications of Three Allele Variants Associated with Cancer. analysis of sequence variation; Function hsa-mir-146a miRNA Cancer 0.503 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 N/A 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002858 25500335 NONHSAT159177.1 rs174535 ? N/A 2,633 individuals EFO_0005110 N/A Associate Red blood cell fatty acid levels rs174535-? of NONHSAT159177.1 is significantly associated with the red blood cell fatty acid levels by using GWAS analysis in 2,633 individuals(p-value = 2E-12 ;OR = 0.138). 0.4 A genome-wide association study of saturated, mono- and polyunsaturated red blood cell fatty acids in the Framingham Heart Offspring Study. genome-wide association analysis NONHSAT159177.1 lncRNA Fatty acid measurement 0.33 TCCCTGTCAG(T > C)AGTGGCACCC chr11: 61783884 0.6599,0.3401 0.68089799949031600,0.31910200050968399 Region score:0.3; TSS score:0.23; Unmatched score:0.42; Average GERP:2.6233049504950494 GeneName:MYRF; CADD-Score:5; Consquence:synonymous; GeneID:ENSG00000124920; TranscriptID:ENST00000278836; AnnoType:SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000040336; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TMEM258; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000134825; TranscriptID:ENST00000535042; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002859 28928442 NONHSAT168705.1 rs182698104 ? N/A 60,098 european ancestry cases//113,323 european ancestry controls EFO_0007924 N/A Associate Tonsillectomy rs182698104-? of NONHSAT168705.1 is significantly associated with the tonsillectomy by using GWAS analysis in 60,098 european ancestry cases//113,323 european ancestry controls(p-value = 5E-6 ;OR = 0.5535). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. genome-wide association analysis NONHSAT168705.1 lncRNA Tonsillectomy risk measurement 0.33 TTAGCCAAAC(G > A,T)TGGTGGTGGG chr14: 83170522 0.9998,0.0001997,. 0.99991239806320081,0.00006371049949031,0.00002389143730886 Region score:0.23; TSS score:0.06; Unmatched score:0; Average GERP:0.06303960396039604 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002860 28598419 NONHSAT214786.1 rs1558001 T N/A 698 african american preterm birth mothers//1,035 african american term birth mothers EFO_0005112 N/A Associate Gestational age at birth (maternal effect) rs1558001-T of NONHSAT214786.1 is significantly associated with the gestational age at birth (maternal effect) by using GWAS analysis in 698 african american preterm birth mothers//1,035 african american term birth mothers(p-value = 1E-7 ;OR = 0.81). 0.4 Genome-wide approach identifies a novel gene-maternal pre-pregnancy BMI interaction on preterm birth. genome-wide association analysis NONHSAT214786.1 lncRNA Gestational age 0.33 ATGAAGTATG(T > C)TGCCCAATGC chr7: 81777764 0.3484,0.6516 0.36326134046890927,0.63673865953109072 Region score:0.42; TSS score:0.27; Unmatched score:0.12; Average GERP:-0.017555445544554394 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002861 27863252 NONHSAT190245.1 rs58904263 AG N/A 170,721 european ancestry individuals EFO_0005091 N/A Associate Monocyte count rs58904263-AG of NONHSAT190245.1 is significantly associated with the monocyte count by using GWAS analysis in 170,721 european ancestry individuals(p-value = 3E-10 ;OR = 0.02735152). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT190245.1 lncRNA Monocyte count 0.33 AAAAAAAAAA(A > AAG,AG)AAAAGAAACA chr20: 31813603 0.7188,.,0.2812 0.77369234199796126,0.00562245158002038,0.22068520642201834 N/A GeneName:AL160175.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000230801; TranscriptID:ENST00000428124; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000648949; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002862 25608926 NONHSAT158258.1 rs10761660 T N/A 2,332 european ancestry cases and 5,233 european ancestry controls; 764 european ancestry cases and 2,256 european ancestry controls EFO_0004192 N/A Associate Alopecia areata rs10761660-T of NONHSAT158258.1 is significantly associated with the alopecia areata by using GWAS analysis in 2,332 european ancestry cases and 5,233 european ancestry controls; 764 european ancestry cases and 2,256 european ancestry controls(p-value = 9E-6 ;OR = 1.17234). 0.4 Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci. genome-wide association analysis NONHSAT158258.1 lncRNA Alopecia areata 0.33 TCTCCCACCA(T > C)TTGCAATCTG chr10: 62756546 0.7654,0.2346 0.71888538481141692,0.28111461518858307 Region score:0.36; TSS score:0.35; Unmatched score:0.18; Average GERP:0.790274257425742 GeneName:AC067751.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000238280; TranscriptID:ENST00000649548; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000405647; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002863 27989323 NONHSAT166259.1 rs816960 C N/A 3,685 finnish ancestry individuals EFO_0005140 N/A Associate Monokine induced by gamma interferon levels rs816960-C of NONHSAT166259.1 is significantly associated with the monokine induced by gamma interferon levels by using GWAS analysis in 3,685 finnish ancestry individuals(p-value = 5E-7 ;OR = 0.1224). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. genome-wide association analysis NONHSAT166259.1 lncRNA Autoimmune disease 0.33 GGACATTTAA(C > T)GGGAGCAGAA chr13: 107870173 0.7244,0.2756 0.76089449541284403,0.23910550458715596 Region score:0.38; TSS score:0.45; Unmatched score:0.34; Average GERP:-1.425926732673268 GeneName:AL136964.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000274718; TranscriptID:ENST00000622038; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:FAM155A; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000204442; TranscriptID:ENST00000375915; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002864 26301688 NONHSAT017487.2 rs17885785 T N/A 97 european ancestry thyroiditis cases//107 european ancestry ankylosing spondylitis cases//100 european ancestry psoriasis cases//173 european ancestry celiac disease cases//254 european ancestry systemic lupus erythematosus cases//308 european ancestry common variable inmunodeficiency cases//865 european ancestry ulcerative colitis cases//1,086 european ancestry type 1 diabetes cases//1,123 european ancestry juvenile idiopathic arthritis cases//1,922 european ancestry crohn's disease cases//10,718 european ancestry controls EFO_0000540 N/A Associate Pediatric autoimmune diseases rs17885785-T of NONHSAT017487.2 is significantly associated with the pediatric autoimmune diseases by using GWAS analysis in 97 european ancestry thyroiditis cases//107 european ancestry ankylosing spondylitis cases//100 european ancestry psoriasis cases//173 european ancestry celiac disease cases//254 european ancestry systemic lupus erythematosus cases//308 european ancestry common variable inmunodeficiency cases//865 european ancestry ulcerative colitis cases//1,086 european ancestry type 1 diabetes cases//1,123 european ancestry juvenile idiopathic arthritis cases//1,922 european ancestry crohn's disease cases//10,718 european ancestry controls(p-value = 8E-11 ;OR = ?). 0.4 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases. genome-wide association analysis NONHSAT017487.2 lncRNA Immune system disease 0.33 ACTGAGGCGG(C > T)GCCACTGTGT chr11: 2146620 0.9109,0.08906 0.86723528287461773,0.13276471712538226 Region score:0.42; TSS score:0.68; Unmatched score:0.78; Average GERP:-0.7542470297029704 GeneName:IGF2-AS; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000099869; TranscriptID:ENST00000381361; AnnoType:INTRONIC; mirSVR-Score:-0.3381; mirSVR-E:-13.43 | GeneName:IGF2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000167244; TranscriptID:ENST00000641326; AnnoType:INTRONIC; mirSVR-Score:-0.3381; mirSVR-E:-13.43 | GeneName:IGF2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000284779; TranscriptID:ENST00000643349; AnnoType:INTRONIC; mirSVR-Score:-0.3381; mirSVR-E:-13.43 | GeneName:INS-IGF2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000129965; TranscriptID:ENST00000397270; AnnoType:DOWNSTREAM; mirSVR-Score:-0.3381; mirSVR-E:-13.43 | NCRV0000002865 20668430 NONHSAT192870.1 rs2239785 G N/A 56 african american cases//61 european ancestry cases//1,759 african american controls//1,531 european ancestry controls; 299 european ancestry cases EFO_0004236 N/A Associate Glomerulosclerosis rs2239785-G of NONHSAT192870.1 is significantly associated with the glomerulosclerosis by using GWAS analysis in 56 african american cases//61 european ancestry cases//1,759 african american controls//1,531 european ancestry controls; 299 european ancestry cases(p-value = 5E-13 ;OR = ?). 0.4 A risk allele for focal segmental glomerulosclerosis in African Americans is located within a region containing APOL1 and MYH9. genome-wide association analysis NONHSAT192870.1 lncRNA Focal segmental glomerulosclerosis 0.33 GTTGAAAAGT(G > A)AGCTTGAGGA chr22: 36265284 0.3219,0.6781 0.32798961518858307,0.67201038481141692 Region score:0.41; TSS score:0.66; Unmatched score:0.69; Average GERP:-1.0227864356435639 GeneName:APOL1; CADD-Score:7; Consquence:missense; GeneID:ENSG00000100342; TranscriptID:ENST00000319136; AnnoType:NON_SYNONYMOUS; mirSVR-Score:-0.0844; mirSVR-E:-15.83 | NCRV0000002866 26031901 NONHSAT037609.2 rs917063 ? N/A 160 european and other ancestry zileuton-treated cases//144 european and other ancestry placebo-controlled cases; 149 european and other ancestry zileuton-treated cases//73 european and other ancestry placebo-controlled cases EFO_0005921 N/A Associate Response to zileuton treatment in asthma (fev1 change interaction) rs917063-? of NONHSAT037609.2 is significantly associated with the response to zileuton treatment in asthma (fev1 change interaction) by using GWAS analysis in 160 european and other ancestry zileuton-treated cases//144 european and other ancestry placebo-controlled cases; 149 european and other ancestry zileuton-treated cases//73 european and other ancestry placebo-controlled cases(p-value = 1E-6 ;OR = 0.34). 0.4 Genome-wide association study of leukotriene modifier response in asthma. genome-wide association analysis NONHSAT037609.2 lncRNA Fev change measurement 0.33 CACTGTGCCT(T > C)AGTTTCATCC chr14: 71181355 0.8003,0.1997 0.80526885830784913,0.19473114169215086 Region score:0.26; TSS score:0.23; Unmatched score:0.09; Average GERP:-0.46845148514851487 GeneName:AC004817.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000259907; TranscriptID:ENST00000561794; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002867 26257337 pri-miR-219 rs107822 C Dominant 1041 patients with scz (531 males and 510 females; mean age: 33.65?隆脌?9.14years) and 953 healthy controls (512 males and 441 females; mean age: 34.47?隆脌?10.49 years) in the chinese population EFO_0000692 N/A Decreasing risk Schizophrenia rs107822-C of pri-miR-219 and its dysfunction is significantly associated with the decreasing risk of schizophrenia by using case-control analysis in 1041 patients with SCZ (531 males and 510 females; mean age: 33.65?隆脌?9.14years) and 953 healthy controls (512 males and 441 females; mean age: 34.47?隆脌?10.49 years) in the chinese population. 0.4 Polymorphisms in MicroRNA Genes And Genes Involving in NMDAR Signaling and Schizophrenia: A Case-Control Study in Chinese Han Population. case-control analysis hsa-mir-219a-1 miRNA Schizophrenia 0.33 GTGGTGTCTC(C > T)ATTCCCCCTT chr6: 33207798 0.624,0.376 0.69983594546381243,0.30016405453618756 Region score:0.56; TSS score:0.5; Unmatched score:0.96; Average GERP:1.363105217821782 GeneName:HSD17B8; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000204228; TranscriptID:ENST00000374662; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR219A1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000199036; TranscriptID:ENST00000362166; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000195766; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RING1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000204227; TranscriptID:ENST00000374656; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SLC39A7; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000112473; TranscriptID:ENST00000374677; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002868 28928442 NONHSAT063044.2 rs769267 ? N/A 60,098 european ancestry cases//113,323 european ancestry controls EFO_0007924 N/A Associate Tonsillectomy rs769267-? of NONHSAT063044.2 is significantly associated with the tonsillectomy by using GWAS analysis in 60,098 european ancestry cases//113,323 european ancestry controls(p-value = 5E-7 ;OR = 0.0434). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. genome-wide association analysis NONHSAT063044.2 lncRNA Tonsillectomy risk measurement 0.33 ACTAGATCCC(G > A)CAGTTCGAAG chr19: 19336127 0.4738,0.5262 0.43006179918450560,0.56993820081549439 Region score:0.43; TSS score:0.35; Unmatched score:0.56; Average GERP:2.2725473267326763 GeneName:MAU2; CADD-Score:5; Consquence:synonymous; GeneID:ENSG00000129933; TranscriptID:ENST00000262815; AnnoType:SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000586840; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002869 24682535 MIR-27a rs895819 G N/a 132 type 2 diabetes patients (t2d) analysed for diabetic polyneuropathy (dpn) and 128 t2d patients analysed for cardiovascular autonomic neuropathy (can) Orphanet_140471 N/A Increasing risk Cardiovascular autonomic neuropathy rs895819 -G of MIR-27a and its dysfunction is significantly associated with the increasing risk of cardiovascular autonomic neuropathy by using case-control analysis in 132 type 2 diabetes patients (T2D) analysed for Diabetic polyneuropathy (DPN) and 128 T2D patients analysed for cardiovascular autonomic neuropathy (CAN). 0.4 Common polymorphisms in MIR146a, MIR128a and MIR27a genes contribute to neuropathy susceptibility in type 2 diabetes. case-control analysis hsa-mir-27a miRNA Hereditary sensory and autonomic neuropathy 0.33 CACGACTTGG(T > C)GTGGACCCTG chr19: 13836478 0.6362,0.3638 0.63091711264016309,0.36908288735983690 Region score:0.57; TSS score:0.41; Unmatched score:0.75; Average GERP:2.158386138613861 GeneName:AC020916.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000267519; TranscriptID:ENST00000587762; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR23A; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207980; TranscriptID:ENST00000385245; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR24-2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284387; TranscriptID:ENST00000386972; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR27A; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207808; TranscriptID:ENST00000385073; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000107447; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ZSWIM4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000132003; TranscriptID:ENST00000254323; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002870 27864917 miR-708 rs754333774 A Dominant 2078 subjects with bipolar disorder and 1355 healthy controls. EFO_0000289 N/A Increasing risk Bipolar disorder rs754333774-A of miR-708 and its dysfunction is significantly associated with the increasing risk of bipolar disorder by using case-control analysis in 2078 subjects with bipolar disorder and 1355 healthy controls 0.4 Genetic variation in the miR-708 gene and its binding targets in bipolar disorder. case-control analysis hsa-mir-708 miRNA Bipolar disorder 0.33 CAACATTTTA(C > T)AACTTATTTT chr11: 79402363 N/A 0.99956199031600407,0.00043800968399592 N/A GeneName:MIR708; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000211997; TranscriptID:ENST00000390708; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TENM4; CADD-Score:2; Consquence:intron; GeneID:ENSG00000149256; TranscriptID:ENST00000278550; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002871 27424800 mir-6721 rs114764276 ? N/a Schizophrenias EFO_0000692 N/A Increasing risk Schizophrenia rs114764276-? of mir-6721 and its dysfunction is significantly associated with the increasing risk of Schizophrenia by using genome-wide association analysis in Schizophrenias. 0.4 Schizophrenia risk variants affecting microRNA function and site-specific regulation of NT5C2 by miR-206. genome-wide association analysis hsa-mir-6721 miRNA Schizophrenia 0.33 N/A N/A N/A N/A N/A N/A NCRV0000002872 27380242 miR-6826 rs116159732 T Dominant 1657 breast cancer cases and 2029 controls of African ancestry EFO_0000305 N/A decreasing risk breast carcinoma rs116159732-T of hsa-mir-6826 and its dysfunction is significantly associated with the decreasing risk of Breast carcinoma by using case-control analysis in 1657 breast cancer cases and 2029 controls of African ancestry 0.4 Genetic variants in microRNA and microRNA biogenesis pathway genes and breast cancer risk among women of African ancestry. case-control analysis hsa-mir-6826 miRNA Breast carcinoma 0.33 TCCTCTGCAG(C > T)ATGGCTCGGA chr3: 129272193 0.9878,0.01218 0.98968686289500509,0.01031313710499490 Region score:0.37; TSS score:0.08; Unmatched score:0.28; Average GERP:-0.513912871287129 GeneName:COPG1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000181789; TranscriptID:ENST00000314797; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR6826; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000278658; TranscriptID:ENST00000617808; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002873 28441456 NONHSAT157499.1 rs10884984 T N/A 2,187 european ancestry individuals EFO_0007841 N/A Associate Facial morphology (factor 22) rs10884984-T of NONHSAT157499.1 is significantly associated with the facial morphology (factor 22) by using GWAS analysis in 2,187 european ancestry individuals(p-value = 5E-6 ;OR = 0.1631). 0.4 Genome-wide association study of facial morphology reveals novel associations with FREM1 and PARK2. genome-wide association analysis NONHSAT157499.1 lncRNA Facial morphology measurement 0.33 ACGCACCATG(C > T)TGGGGGGGTT chr10: 110496136 0.8075,0.1925 0.81228497706422018,0.18771502293577981 Region score:0.4; TSS score:0.46; Unmatched score:0.95; Average GERP:0.3066565656565657 GeneName:AL355512.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000273143; TranscriptID:ENST00000609514; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:DUSP5; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000138166; TranscriptID:ENST00000369583; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000033336; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002874 27082954 NONHSAT180638.1 rs4897936 ? N/A 104 european ancestry cases//1,519 european ancestry controls//34 african american cases//520 african american controls EFO_0004265 traffic-related air pollution interaction Associate Peripheral arterial disease (traffic-related air pollution interaction) rs4897936-? of NONHSAT180638.1 is significantly associated with the peripheral arterial disease (traffic-related air pollution interaction) by using GWAS analysis in 104 european ancestry cases//1,519 european ancestry controls//34 african american cases//520 african american controls(p-value = 6E-6 ;OR = 15.79). 0.4 Genetic Variants in the Bone Morphogenic Protein Gene Family Modify the Association between Residential Exposure to Traffic and Peripheral Arterial Disease. genome-wide association analysis NONHSAT180638.1 lncRNA Peripheral arterial disease 0.33 CCTCAAATCT(T > C)TGCAGGTCTG chr19: 294946 0.9449,0.05511 0.96307180173292558,0.03692819826707441 Region score:0.22; TSS score:0.42; Unmatched score:0.56; Average GERP:-0.25742079207920787 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000286929; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000581283; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PLPP2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000141934; TranscriptID:ENST00000327790; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002875 28360221 NONHSAT198086.1 rs753628 A N/A 45,889 european ancestry individuals//up to 8,765 asian indian ancestry individuals//up to 7,215 african ancestry individuals; 17,637 european ancestry individuals EFO_0007967 N/A Associate Blood osmolality (transformed sodium) rs753628-A of NONHSAT198086.1 is significantly associated with the blood osmolality (transformed sodium) by using GWAS analysis in 45,889 european ancestry individuals//up to 8,765 asian indian ancestry individuals//up to 7,215 african ancestry individuals; 17,637 european ancestry individuals(p-value = 3E-6 ;OR = 0.04). 0.4 NFAT5 and SLC4A10 Loci Associate with Plasma Osmolality. genome-wide association analysis NONHSAT198086.1 lncRNA Blood osmolality measurement 0.33 AGAGTCCAGC(G > A)GTCCCTCTTA chr3: 194838744 0.4155,0.5845 0.47801987767584097,0.52198012232415902 Region score:0.34; TSS score:0.26; Unmatched score:0.14; Average GERP:-0.6205425742574258 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002876 26417704 NONHSAT161116.1 rs7929679 G N/A 4,139 european and other ancestry p.phe508del homozygote cases// 2,226 european and other ancestry cases Orphanet_586 N/A Associate Lung disease severity in cystic fibrosis rs7929679-G of NONHSAT161116.1 is significantly associated with the lung disease severity in cystic fibrosis by using GWAS analysis in 4,139 european and other ancestry p.phe508del homozygote cases// 2,226 european and other ancestry cases(p-value = 1E-7 ;OR = ?). 0.4 Genome-wide association meta-analysis identifies five modifier loci of lung disease severity in cystic fibrosis. genome-wide association analysis NONHSAT161116.1 lncRNA Cystic fibrosis 0.33 TCTCCTCTGC(A > G)GAAAGTAAGG chr11: 34784302 0.5,0.5 0.47120285423037716,0.52879714576962283 Region score:0.44; TSS score:0.52; Unmatched score:0.34; Average GERP:-0.15830198019801983 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000427864; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002877 27863252 NONHSAT168044.1 rs9555596 C N/A 169,545 european ancestry individuals EFO_0007997 N/A Associate Granulocyte percentage of myeloid white cells rs9555596-C of NONHSAT168044.1 is significantly associated with the granulocyte percentage of myeloid white cells by using GWAS analysis in 169,545 european ancestry individuals(p-value = 3E-11 ;OR = 0.02454555). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT168044.1 lncRNA Granulocyte percentage of myeloid white cells 0.33 TTCTTTTGAA(T > A,C)ATTTCAATAG chr13: 109359492 0.6987,.,0.3013 0.69496209225280326,0.00596489551478083,0.29907301223241590 Region score:0.47; TSS score:0.34; Unmatched score:0.07; Average GERP:1.6135871287128711 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002878 25918132 NONHSAT161708.1 rs188610 A N/A 74 european ancestry cases//824 european ancestry controls EFO_0000270 N/A Associate Diisocyanate-induced asthma rs188610-A of NONHSAT161708.1 is significantly associated with the diisocyanate-induced asthma by using GWAS analysis in 74 european ancestry cases//824 european ancestry controls(p-value = 1E-6 ;OR = 11.49). 0.4 Genome-Wide Association Study Identifies Novel Loci Associated With Diisocyanate-Induced Occupational Asthma. genome-wide association analysis NONHSAT161708.1 lncRNA Asthma 0.33 CAAAGAAGAA(G > A)ATGAAGTAGG chr12: 204673 0.9275,0.07248 0.93249076197757390,0.06750923802242609 Region score:0.2; TSS score:0.51; Unmatched score:0.75; Average GERP:2.1538415841584166 GeneName:AC007406.4; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000256577; TranscriptID:ENST00000539568; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SLC6A12; CADD-Score:5; Consquence:synonymous; GeneID:ENSG00000111181; TranscriptID:ENST00000424061; AnnoType:SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002879 25614447 hsa-mir-3152 rs13299349 A N/A 576 patients with lung cancer in a southern Chinese population, and the significant results were validated in two additional cohorts of 346 and 368 patients, respectively EFO_0001071 N/A no significance for risk lung carcinoma rs13299349-A of hsa-mir-3152 and its dysfunction is not significantly associated with Lung carcinoma by using case-control analysis in 576 patients with lung cancer in a southern Chinese population, and the significant results were validated in two additional cohorts of 346 and 368 patients, respectively -0.4 Sequence Variation in Mature MicroRNA-499 Confers Unfavorable Prognosis of Lung Cancer Patients Treated with Platinum-Based Chemotherapy. case-control analysis hsa-mir-3152 miRNA Lung carcinoma -0.33 TGTTAGAATA(G > A)GGGCAATAAC chr9: 18573362 0.7808,0.2192 0.73599165392456676,0.26400834607543323 Region score:0.43; TSS score:0.24; Unmatched score:0.45; Average GERP:-0.7039987128712869 GeneName:ADAMTSL1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000178031; TranscriptID:ENST00000380548; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3152; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000264638; TranscriptID:ENST00000579801; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002880 27863252 NONHSAT010798.2 rs1339847 A N/A 170,763 european ancestry individuals EFO_0007986 N/A Associate High light scatter reticulocyte count rs1339847-A of NONHSAT010798.2 is significantly associated with the high light scatter reticulocyte count by using GWAS analysis in 170,763 european ancestry individuals(p-value = 1E-86 ;OR = 0.1128645). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT010798.2 lncRNA Reticulocyte count 0.33 ATGGAGGGAT(G > A)TCCCCAACAA chr1: 247875992 0.874,0.126 0.89311767329255861,0.10688232670744138 Region score:0.53; TSS score:0.57; Unmatched score:0.67; Average GERP:1.2182661386138613 GeneName:TRIM58; CADD-Score:7; Consquence:missense; GeneID:ENSG00000162722; TranscriptID:ENST00000366481; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002881 27863252 NONHSAT208858.1 rs6917586 A N/A 170,384 european ancestry individuals EFO_0009390 N/A Associate Sum neutrophil eosinophil counts rs6917586-A of NONHSAT208858.1 is significantly associated with the sum neutrophil eosinophil counts by using GWAS analysis in 170,384 european ancestry individuals(p-value = 2E-11 ;OR = 0.02533813). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT208858.1 lncRNA Sum of neutrophil and eosinophil counts 0.33 AGCACGCAAC(G > A)TTTATTACCA chr6: 21381296 0.5769,0.4231 0.63512996941896024,0.36487003058103975 Region score:0.3; TSS score:0.22; Unmatched score:0.11; Average GERP:-0.6859223762376232 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002882 27863252 NONHSAT076891.2 rs55799208 A N/A 170,702 european ancestry individuals EFO_0004833 N/A Associate Neutrophil count rs55799208-A of NONHSAT076891.2 is significantly associated with the neutrophil count by using GWAS analysis in 170,702 european ancestry individuals(p-value = 7E-42 ;OR = 0.4864247). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT076891.2 lncRNA Neutrophil count 0.33 CATGCCACAC(G > A)CACACTGACC chr2: 218135259 0.9992,0.0007987 0.99875764525993883,0.00124235474006116 Region score:0.3; TSS score:0.45; Unmatched score:0.56; Average GERP:2.868386138613863 GeneName:CXCR2; CADD-Score:7; Consquence:missense; GeneID:ENSG00000180871; TranscriptID:ENST00000318507; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002883 23382691 NONHSAT118953.2 rs308097 G N/A 2,247 european ancestry individuals EFO_0002690 N/A Associate Igg glycosylation rs308097-G of NONHSAT118953.2 is significantly associated with the igg glycosylation by using GWAS analysis in 2,247 european ancestry individuals(p-value = 2E-6 ;OR = 0.4299). 0.4 Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. genome-wide association analysis NONHSAT118953.2 lncRNA Systemic lupus erythematosus 0.33 TCCTTTAACC(G > A)TTTCTCCCCA chr7: 5840746 0.9599,0.04014 0.96535741590214067,0.03464258409785932 Region score:0.3; TSS score:0.29; Unmatched score:0.37; Average GERP:-0.43753861386138565 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000815770; AnnoType:REGULATORY; mirSVR-Score:-0.7615; mirSVR-E:-18.28 | GeneName:ZNF815P; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000235944; TranscriptID:ENST00000434898; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.7615; mirSVR-E:-18.28 | NCRV0000002884 26394269 NONHSAT203488.1 rs2546890 A N/A 2,764 european ancestry cases//10,475 european ancestry controls; 3,716 european ancestry cases// 4,261 european ancestry controls EFO_1001486 N/A Associate Primary biliary cholangitis rs2546890-A of NONHSAT203488.1 is significantly associated with the primary biliary cholangitis by using GWAS analysis in 2,764 european ancestry cases//10,475 european ancestry controls; 3,716 european ancestry cases// 4,261 european ancestry controls(p-value = 1E-10 ;OR = 1.1494253). 0.4 International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways. genome-wide association analysis NONHSAT203488.1 lncRNA Primary biliary cirrhosis 0.33 TTGTCTTCCC(A > G)CAGTGAAATC chr5: 159332892 0.4403,0.5597 0.46180555555555555,0.53819444444444444 Region score:0.48; TSS score:0.6; Unmatched score:0.79; Average GERP:-0.8423178217821782 GeneName:AC008691.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000249738; TranscriptID:ENST00000515337; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.5686; mirSVR-E:-14.97 | GeneName:IL12B; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000113302; TranscriptID:ENST00000231228; AnnoType:UPSTREAM; mirSVR-Score:-0.5686; mirSVR-E:-14.97 | NCRV0000002885 23251661 NONHSAT079731.2 rs8120917 A N/A 815 hispanic children from 263 families EFO_0004908 N/A Associate Obesity-related traits rs8120917-A of NONHSAT079731.2 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 6E-6 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. genome-wide association analysis NONHSAT079731.2 lncRNA Testosterone measurement 0.33 ATTTTCATTA(G > A)CATCACCATC chr20: 40015916 0.9764,0.02356 0.97572629969418960,0.02427370030581039 Region score:0.38; TSS score:0.35; Unmatched score:0.1; Average GERP:-0.6116085148514847 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002886 24578125 NONHSAT140921.2 rs12917707 T N/A 10,884 european ancestry individuals EFO_0005663 N/A Associate Urinary uromodulin levels rs12917707-T of NONHSAT140921.2 is significantly associated with the urinary uromodulin levels by using GWAS analysis in 10,884 european ancestry individuals(p-value = 8E-73 ;OR = 0.32). 0.4 Common variants in UMOD associate with urinary uromodulin levels: a meta-analysis. genome-wide association analysis NONHSAT140921.2 lncRNA Urinary uromodulin measurement 0.33 CGAGGCAGGT(G > T)AGCCTTACAC chr16: 20356368 0.9018,0.09824 0.87375764525993883,0.12624235474006116 Region score:0.43; TSS score:0.46; Unmatched score:0.51; Average GERP:0.4125980198019801 GeneName:PDILT; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000169340; TranscriptID:ENST00000302451; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:UMOD; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000169344; TranscriptID:ENST00000396134; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002887 28165464 NONHSAT015489.2 rs6586163 A N/A 4,478 european ancestry cases and 13,213 european ancestry controls.; 1,722 european ancestry cases and 4,385 european ancestry controls. EFO_0000095 N/A Associate Chronic lymphocytic leukemia rs6586163-A of NONHSAT015489.2 is significantly associated with the chronic lymphocytic leukemia by using GWAS analysis in 4,478 european ancestry cases and 13,213 european ancestry controls.; 1,722 european ancestry cases and 4,385 european ancestry controls.(p-value = 1E-15 ;OR = 1.23). 0.4 Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia. genome-wide association analysis NONHSAT015489.2 lncRNA Chronic lymphocytic leukemia 0.33 ACTATTTGGG(A > C)TTCTTTAGAA chr10: 88992261 0.4239,0.5761 0.41740730122324159,0.58259269877675840 Region score:0.15; TSS score:0.37; Unmatched score:0.68; Average GERP:-0.5211732673267326 GeneName:ACTA2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000107796; TranscriptID:ENST00000415557; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:FAS; CADD-Score:2; Consquence:intron; GeneID:ENSG00000026103; TranscriptID:ENST00000355740; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000031278; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF02116; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000275693; TranscriptID:ENST00000620386; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002888 27015805 NONHSAT087071.2 rs137115 ? N/A 1,339 middle-aged british cases//40,934 middle-aged british controls EFO_0007796 N/A Associate Parental extreme longevity (95 years and older) rs137115-? of NONHSAT087071.2 is significantly associated with the parental extreme longevity (95 years and older) by using GWAS analysis in 1,339 middle-aged british cases//40,934 middle-aged british controls(p-value = 8E-6 ;OR = 0.00475). 0.4 Human longevity is influenced by many genetic variants: evidence from 75,000 UK Biobank participants. genome-wide association analysis NONHSAT087071.2 lncRNA Parental longevity 0.33 CTGCCCGACC(T > A,C,G)TATTCACGCC chr22: 42615397 0.07708,.,0.9229,. 0.12548579255861365,0.00694444444444444,0.86447980377166156,0.00308995922528032 Region score:0.49; TSS score:0.46; Unmatched score:0.84; Average GERP:0.9359709999999994 GeneName:CYB5R3; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000100243; TranscriptID:ENST00000361740; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000146788; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000673111; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:POLDIP3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000100227; TranscriptID:ENST00000451060; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RNU12; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000276027; TranscriptID:ENST00000362512; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:Z93241.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000270022; TranscriptID:ENST00000602478; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002889 28928442 NONHSAT210379.1 rs3130844 ? N/A 35,000 european ancestry cases//33,478 european ancestry controls EFO_0008413 N/A Associate Urinary tract infection frequency rs3130844-? of NONHSAT210379.1 is significantly associated with the urinary tract infection frequency by using GWAS analysis in 35,000 european ancestry cases//33,478 european ancestry controls(p-value = 7E-6 ;OR = 0.0564). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. genome-wide association analysis NONHSAT210379.1 lncRNA Susceptibility to urinary tract infection measurement 0.33 TTTGTAACCT(G > A,C)AACGTTTTCT chr6: 28948817 0.9824,0.01757,. 0.94529657237512742,0.05469546381243628,0.00000796381243628 Region score:0.15; TSS score:0.38; Unmatched score:0.49; Average GERP:-0.05782772277227721 GeneName:LINC01556; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000204709; TranscriptID:ENST00000377186; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000787014; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002890 23793025 NONHSAT050231.2 rs1437588 ? N/A 23,285 european ancestry cases//95,425 european ancestry controls EFO_0003821 N/A Associate Migraine rs1437588-? of NONHSAT050231.2 is significantly associated with the migraine by using GWAS analysis in 23,285 european ancestry cases//95,425 european ancestry controls(p-value = 3E-6 ;OR = 1.05). 0.4 Genome-wide meta-analysis identifies new susceptibility loci for migraine. genome-wide association analysis NONHSAT050231.2 lncRNA Migraine disorder 0.33 TTTATTTTTC(A > G,T)CATTTCTGAA chr15: 96266553 0.3696,0.6304,. 0.35333843017329255,0.62466551987767584,0.02199604994903160 Region score:0.21; TSS score:0.32; Unmatched score:0.42; Average GERP:0.07878811881188123 GeneName:AC012409.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000275443; TranscriptID:ENST00000619812; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000526762; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NR2F2-AS1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000247809; TranscriptID:ENST00000502125; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002891 28030426 NONHSAT176536.1 rs9897443 ? N/A 972 european ancestry intolerant individuals//4,189 european ancestry tolerant individuals EFO_0005325 N/A Associate Angiotensin-converting enzyme inhibitor intolerance rs9897443-? of NONHSAT176536.1 is significantly associated with the angiotensin-converting enzyme inhibitor intolerance by using GWAS analysis in 972 european ancestry intolerant individuals//4,189 european ancestry tolerant individuals(p-value = 9E-6 ;OR = 1.2877936). 0.4 Meta-analysis of genome-wide association studies on the intolerance of angiotensin-converting enzyme inhibitors. genome-wide association analysis NONHSAT176536.1 lncRNA Response to angiotensin-converting enzyme inhibitor 0.33 CTTCCAACCC(A > G)GAAAGCTTGG chr17: 72221025 0.2957,0.7043 0.31371846330275229,0.68628153669724770 Region score:0.5; TSS score:0.61; Unmatched score:0.75; Average GERP:-1.5341920792079204 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000563388; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000563389; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SOX9-AS1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000234899; TranscriptID:ENST00000588177; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002892 27863252 NONHSAT182281.1 rs34020101 T N/A 171,771 european ancestry individuals EFO_0009389 N/A Associate Sum eosinophil basophil counts rs34020101-T of NONHSAT182281.1 is significantly associated with the sum eosinophil basophil counts by using GWAS analysis in 171,771 european ancestry individuals(p-value = 8E-32 ;OR = 0.04280614). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT182281.1 lncRNA Sum of eosinophil and basophil counts 0.33 TAAATATTAG(TA > T)AAAAAAAAAA chr2: 102435014 0.5375,0.4625 0.49025229357798165,0.50974770642201834 N/A GeneName:AC007278.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000234389; TranscriptID:ENST00000450893; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC007278.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000236525; TranscriptID:ENST00000436582; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:IL18RAP; CADD-Score:2; Consquence:intron; GeneID:ENSG00000115607; TranscriptID:ENST00000264260; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR4772; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000264764; TranscriptID:ENST00000581495; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002893 23648065 NONHSAT181389.1 rs4666360 C N/A 218 japanese ancestry cases//364 japanese controls DOID_1227 paclitaxel Associate Adverse response to chemotherapy (neutropenia/leucopenia) rs4666360-C of NONHSAT181389.1 is significantly associated with the adverse response to chemotherapy (neutropenia/leucopenia) by using GWAS analysis in 218 japanese ancestry cases//364 japanese controls(p-value = 3E-6 ;OR = 2.136). 0.4 Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan. genome-wide association analysis NONHSAT181389.1 lncRNA Neutropenia 0.33 GATGCATCAG(G > A)CCCAGAGAAA chr2: 20135948 0.4375,0.5625 0.55003663353720693,0.44996336646279306 Region score:0.35; TSS score:0.39; Unmatched score:0.37; Average GERP:-1.047589108910891 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000290007; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000598940; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002894 26112096 hsa-miR-27a rs895819 C Dominant 355 samples of peripheral blood were obtained from the patients with pca and 353 samples from patients with benign prostatic hyperplasia (bph).312 volunteers derived from general population who gave samples of buccal swabs were included in the control group. EFO_0001663 N/A Increasing risk Prostate cancer rs895819-C of hsa-miR-27a and its dysfunction is significantly associated with the increasing risk of prostate cancer by using case-control analysis in 355 samples of peripheral blood were obtained from the patients with PCa and 353 samples from patients with benign prostatic hyperplasia (BPH).312 volunteers derived from general population who gave samples of buccal swabs were included in the control group 0.4 Assessment of association between genetic variants in microRNA genes hsa-miR-499, hsa-miR-196a2 and hsa-miR-27a and prostate cancer risk in Serbian population. case-control analysis hsa-mir-27a miRNA Prostate cancer 0.33 CACGACTTGG(T > C)GTGGACCCTG chr19: 13836478 0.6362,0.3638 0.63091711264016309,0.36908288735983690 Region score:0.57; TSS score:0.41; Unmatched score:0.75; Average GERP:2.158386138613861 GeneName:AC020916.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000267519; TranscriptID:ENST00000587762; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR23A; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207980; TranscriptID:ENST00000385245; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR24-2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284387; TranscriptID:ENST00000386972; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR27A; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207808; TranscriptID:ENST00000385073; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000107447; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ZSWIM4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000132003; TranscriptID:ENST00000254323; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002895 27249003 CASC8 rs10505477 G N/A 498 lung cancer patients and 213 healthy control subjects EFO_0000571 N/A decreasing risk lung adenocarcinoma rs10505477-G of CASC8 and its dysfunction is significantly associated with the decreasing risk of Lung adenocarcinoma by using case-control analysis in 498 lung cancer patients and 213 healthy control subjects 0.4 Clinical Significance of Long Non-Coding RNA CASC8 rs10505477 Polymorphism in Lung Cancer Susceptibility, Platinum-Based Chemotherapy Response, and Toxicity. case-control analysis CASC8 lncRNA Lung adenocarcinoma 0.33 TTCATCTCCA(A > G)TTAAGGCTTC chr8: 127395198 0.5769,0.4231 0.60129969418960244,0.39870030581039755 Region score:0.28; TSS score:0.27; Unmatched score:0.16; Average GERP:0.47135643564356405 GeneName:CASC8; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000246228; TranscriptID:ENST00000502082; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000869326; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PCAT1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000253438; TranscriptID:ENST00000521586; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:POU5F1B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000212993; TranscriptID:ENST00000645438; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002896 25158072 NONHSAT070857.2 rs35881094 G N/A 1,310 ashkenazi jewish//south african afrikaner ancestry//and other european ancestry ocd cases//834 ashkenazi jewish//french canadian and other european ancestry tourette's syndrome cases//579 ashkenazi jewish//south african afrikaner ancestry//french canadian and other european ancestry ocd and tourette's syndrome cases//4,975 european ancestry controls//338 ashkenazi jewish controls//196 french canadian controls//158 south african afrikaner ancestry controls//290 european ancestry ocd parent-child trios EFO_0004895 N/A Associate Tourette's syndrome or obsessive-compulsive disorder rs35881094-G of NONHSAT070857.2 is significantly associated with the tourette's syndrome or obsessive-compulsive disorder by using GWAS analysis in 1,310 ashkenazi jewish//south african afrikaner ancestry//and other european ancestry ocd cases//834 ashkenazi jewish//french canadian and other european ancestry tourette's syndrome cases//579 ashkenazi jewish//south african afrikaner ancestry//french canadian and other european ancestry ocd and tourette's syndrome cases//4,975 european ancestry controls//338 ashkenazi jewish controls//196 french canadian controls//158 south african afrikaner ancestry controls//290 european ancestry ocd parent-child trios(p-value = 7E-6 ;OR = 1.16). 0.4 Cross-disorder genome-wide analyses suggest a complex genetic relationship between Tourette's syndrome and OCD. genome-wide association analysis NONHSAT070857.2 lncRNA Tourette syndrome 0.33 CTTCCACATT(T > G)TATTTGTGGG chr2: 58695786 0.5072,0.4928 0.52611334097859327,0.47388665902140672 Region score:0.36; TSS score:0.22; Unmatched score:0.27; Average GERP:-0.3018108910891088 GeneName:LINC01122; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000233723; TranscriptID:ENST00000452840; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002897 23555923 hsa-mir-124-1 rs531564 G N/A 191 patients with TNBC and 192 healthy female controls EFO_0005537 N/A no significance for risk triple-negative breast cancer rs531564-G of hsa-mir-124-1 and its dysfunction is not significantly associated with Triple-negative breast cancer by using case-control analysis in 191 patients with TNBC and 192 healthy female controls -0.4 There is no association between microRNA gene polymorphisms and risk of triple negative breast cancer in a Chinese Han population. case-control analysis hsa-mir-124-1 miRNA Triple-negative breast cancer -0.33 CCCTGAGTCT(G > C)TTTGCATCTC chr8: 9903189 0.87,0.13 0.86338079765545361,0.13661920234454638 Region score:0.48; TSS score:0.58; Unmatched score:0.92; Average GERP:0.641257425742574 GeneName:LINC00599; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253230; TranscriptID:ENST00000517675; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR124-1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000284321; TranscriptID:ENST00000385275; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000847381; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002898 28240269 NONHSAT202533.1 rs10473230 C N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0008093 N/A Associate Blood protein levels rs10473230-C of NONHSAT202533.1 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 4E-12 ;OR = 0.4058). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. genome-wide association analysis NONHSAT202533.1 lncRNA Complement component c7 measurement 0.33 TTATTAAGTA(T > C)GATTGACACA chr5: 40981929 0.8405,0.1595 0.81886308613659531,0.18113691386340468 Region score:0.47; TSS score:0.79; Unmatched score:0.84; Average GERP:0.021257425742574228 GeneName:C7; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000112936; TranscriptID:ENST00000313164; AnnoType:3PRIME_UTR; mirSVR-Score:-0.8918; mirSVR-E:-10.36 | NCRV0000002899 26824181 miR-10a rs3809783 T Dominant 200 patients with two or more consecutive unexplained spontaneous abortions among 13篓c16weeks were recruited from peking union medical college of china as cases. 200 normal pregnant women (gestational stages were among 13篓c16 weeks) EFO_1000954 N/A Increasing risk Recurrent spontaneous abortion rs3809783-T of miR-10a and its dysfunction is significantly associated with the increasing risk of recurrent spontaneous abortion by using case-control analysis in 200 patients with two or more consecutive unexplained spontaneous abortions among 13篓C16weeks were recruited from Peking Union Medical College of China as cases. 200 normal pregnant women (gestational stages were among 13篓C16 weeks) . By using the disease cell lines or tissues, the interference and mutation of miR-10a has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. Moreover, the ncRNA variation-disease association was validated by complex experiments. 1.4 A SNP in pri-miR-10a is associated with recurrent spontaneous abortion in a Han-Chinese population. case-control analysis; Function; Mechanism hsa-mir-10a miRNA Habitual abortion 0.753 ATATATATAT(A > T)TTTTTTTCTT chr17: 48579816 0.9659,0.03215 0.97802784148827726,0.02197215851172273 Region score:0.64; TSS score:0.48; Unmatched score:0.9; Average GERP:2.476742857142857 GeneName:AC103702.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000257178; TranscriptID:ENST00000548801; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXB3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000120093; TranscriptID:ENST00000476342; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXB4; CADD-Score:3; Consquence:5_prime_UTR; GeneID:ENSG00000182742; TranscriptID:ENST00000332503; AnnoType:5PRIME_UTR; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXB-AS3; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000233101; TranscriptID:ENST00000465846; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR10A; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000284038; TranscriptID:ENST00000385043; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000557703; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002900 19767754 NONHSAT159328.1 rs11228565 A N/A up to 1,968 european ancestry cases//35,382 european ancestry controls; up to 11,806 european ancestry cases//12,387 european ancestry controls EFO_0001663 N/A Associate Prostate cancer rs11228565-A of NONHSAT159328.1 is significantly associated with the prostate cancer by using GWAS analysis in up to 1,968 european ancestry cases//35,382 european ancestry controls; up to 11,806 european ancestry cases//12,387 european ancestry controls(p-value = 7E-12 ;OR = 1.23). 0.4 Genome-wide association and replication studies identify four variants associated with prostate cancer susceptibility. genome-wide association analysis NONHSAT159328.1 lncRNA Prostate cancer 0.33 CCATGGAGTT(G > A)TTGGGTCAAA chr11: 69211113 0.8726,0.1274 0.84202185270132517,0.15797814729867482 Region score:0.38; TSS score:0.37; Unmatched score:0.18; Average GERP:-0.6270514851485149 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000433905; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002901 23969696 NONHSAT129677.2 rs7464572 C N/A 91,323 european ancestry individuals; 8,423 african american individuals//1,447 hispanic individuals EFO_0004623 N/A Associate Fibrinogen rs7464572-C of NONHSAT129677.2 is significantly associated with the fibrinogen by using GWAS analysis in 91,323 european ancestry individuals; 8,423 african american individuals//1,447 hispanic individuals(p-value = 1E-9 ;OR = 0.007). 0.4 Multiethnic meta-analysis of genome-wide association studies in >100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease. genome-wide association analysis NONHSAT129677.2 lncRNA Fibrinogen measurement 0.451 GCTTGCTGAC(C > A,G)AGTGAAGTGC chr8: 143946999 0.7626,.,0.2374 0.71855090468909276,0.00003185524974515,0.28141724006116207 Region score:0.35; TSS score:0.24; Unmatched score:0.57; Average GERP:-0.7118178217821779 GeneName:MIR661; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207574; TranscriptID:ENST00000384842; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PLEC; CADD-Score:2; Consquence:intron; GeneID:ENSG00000178209; TranscriptID:ENST00000322810; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002901 28107422 NONHSAT129677.2 rs7464572 ? N/A 91,953 european ancestry individuals (imputed to hapmap); EFO_0004623 N/A Associate Fibrinogen levels rs7464572-? of NONHSAT129677.2 is significantly associated with the fibrinogen levels by using GWAS analysis in 91,953 european ancestry individuals (imputed to hapmap); (p-value = 2E-9 ;OR = 0.0066). 0.4 Comparison of HapMap and 1000 Genomes Reference Panels in a Large-Scale Genome-Wide Association Study. genome-wide association analysis NONHSAT129677.2 lncRNA Fibrinogen measurement 0.451 GCTTGCTGAC(C > A,G)AGTGAAGTGC chr8: 143946999 0.7626,.,0.2374 0.71855090468909276,0.00003185524974515,0.28141724006116207 Region score:0.35; TSS score:0.24; Unmatched score:0.57; Average GERP:-0.7118178217821779 GeneName:MIR661; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207574; TranscriptID:ENST00000384842; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PLEC; CADD-Score:2; Consquence:intron; GeneID:ENSG00000178209; TranscriptID:ENST00000322810; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002902 28090653 NONHSAT188293.1 rs3935695 C N/A up to 488 european ancestry cases//up to 111 african american cases//up to 60 hispanic cases//up to 56 other ancestry cases EFO_0000220 N/A Associate Alanine aminotransferase (alt) levels after remission induction therapy in actute lymphoblastic leukemia (all) rs3935695-C of NONHSAT188293.1 is significantly associated with the alanine aminotransferase (alt) levels after remission induction therapy in actute lymphoblastic leukemia (all) by using GWAS analysis in up to 488 european ancestry cases//up to 111 african american cases//up to 60 hispanic cases//up to 56 other ancestry cases(p-value = 7E-6 ;OR = 1.27). 0.4 Genome-Wide Study Links PNPLA3 Variant With Elevated Hepatic Transaminase After Acute Lymphoblastic Leukemia Therapy. genome-wide association analysis NONHSAT188293.1 lncRNA Acute lymphoblastic leukemia 0.33 TCTTGCCCTA(T > A,C)CTTTGTTATT chr2: 239001819 0.4443,.,0.5557 0.60305173292558613,0.00000796381243628,0.39694030326197757 Region score:0.35; TSS score:0.27; Unmatched score:0.05; Average GERP:-0.5335089108910894 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002903 29059683 NONHSAT187435.1 rs4848599 C N/A 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls EFO_0000305 N/A Associate Breast cancer rs4848599-C of NONHSAT187435.1 is significantly associated with the breast cancer by using GWAS analysis in 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls(p-value = 2E-20 ;OR = 0.0933). 0.4 Association analysis identifies 65 new breast cancer risk loci. genome-wide association analysis NONHSAT187435.1 lncRNA Breast cancer 0.33 AAAGGCATGC(T > C)GCCCACCAGA chr2: 120481784 0.2133,0.7867 0.18515067533129459,0.81484932466870540 Region score:0.36; TSS score:0.44; Unmatched score:0.38; Average GERP:-1.3780990099009902 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002904 18391951 NONHSAT118823.2 rs798544 G N/A 30,968 european ancestry individuals; 8,541 european ancestry individuals EFO_0004339 N/A Associate Height rs798544-G of NONHSAT118823.2 is significantly associated with the height by using GWAS analysis in 30,968 european ancestry individuals; 8,541 european ancestry individuals(p-value = 7E-15 ;OR = 5.9). 0.4 Many sequence variants affecting diversity of adult human height. genome-wide association analysis NONHSAT118823.2 lncRNA Body height 0.33 TACTGACCTT(C > T)TTTGAGGAGC chr7: 2723468 0.7941,0.2059 0.76010607798165137,0.23989392201834862 Region score:0.23; TSS score:0.08; Unmatched score:0.26; Average GERP:-0.9422386138613863 GeneName:AMZ1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000174945; TranscriptID:ENST00000489665; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GNA12; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000146535; TranscriptID:ENST00000275364; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000814942; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002905 26261633 miR375 rs6715345 C N/a 248 kazakh patients with escc and 300 frequency matched control subjects EFO_0005922 N/A No significance for risk Esophageal squamous cell carcinoma rs6715345-C of miR375 and its dysfunction is not significantly associated with esophageal squamous cell carcinoma by using case-control analysis in 248 Kazakh patients with ESCC and 300 frequency matched control subjects. -0.4 Genetic variation in miR-100 rs1834306 is associated with decreased risk for esophageal squamous cell carcinoma in Kazakh patients in northwest China. case-control analysis hsa-mir-375 miRNA Esophageal squamous cell cancer -0.33 GATCAGGCCG(G > C)CCCCCGGGCT chr2: 219001614 0.9535,0.04653 0.95623088685015290,0.04376911314984709 Region score:0.54; TSS score:0.69; Unmatched score:0.93; Average GERP:2.6162227722772275 GeneName:AC097468.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000224090; TranscriptID:ENST00000441450; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CFAP65; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000181378; TranscriptID:ENST00000341552; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR375; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000198973; TranscriptID:ENST00000362103; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000637148; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002906 21793975 miR-33b hsa-mir-33b Amplification - Dominant 48 medulloblastomas EFO_0002939 N/A Increasing risk Medulloblastomas Amplification of miR-33b and its dysfunction is significantly associated with the increasing risk of medulloblastomas by using analysis of sequence variation in 48 medulloblastomas. 0.4 Genetic alterations in microRNAs in medulloblastomas. analysis of sequence variation; Function hsa-mir-33b miRNA Medulloblastoma 0.33 N/A N/A N/A N/A N/A N/A NCRV0000002907 27863252 NONHSAT186311.1 rs4791 T N/A 170,761 european ancestry individuals EFO_0007986 N/A Associate High light scatter reticulocyte count rs4791-T of NONHSAT186311.1 is significantly associated with the high light scatter reticulocyte count by using GWAS analysis in 170,761 european ancestry individuals(p-value = 9E-16 ;OR = 0.0289765). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT186311.1 lncRNA Reticulocyte count 0.33 TAGACATAAA(C > T)TTTATTACAT chr2: 218274217 0.5487,0.4513 0.57916029561671763,0.42083970438328236 Region score:0.37; TSS score:0.69; Unmatched score:0.77; Average GERP:0.6269009900990096 GeneName:AAMP; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000127837; TranscriptID:ENST00000444053; AnnoType:UPSTREAM; mirSVR-Score:-1.3198; mirSVR-E:-8.87 | GeneName:PNKD; CADD-Score:2; Consquence:intron; GeneID:ENSG00000127838; TranscriptID:ENST00000273077; AnnoType:INTRONIC; mirSVR-Score:-1.3198; mirSVR-E:-8.87 | GeneName:TMBIM1; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000135926; TranscriptID:ENST00000444881; AnnoType:3PRIME_UTR; mirSVR-Score:-1.3198; mirSVR-E:-8.87 | NCRV0000002908 29773352 ANRIL rs1333040 C N/a 200 atherothrombotic stroke cases and 205 controls EFO_1001976 N/A No significance for risk Atherothrombotic stroke rs1333040-C of ANRIL and its dysfunction is not significantly associated with atherothrombotic stroke by using case-control analysis in 200 atherothrombotic stroke cases and 205 controls. -0.4 The ANRIL Genetic Variants and Their Interactions with Environmental Risk Factors on Atherothrombotic Stroke in a Han Chinese Population. case-control analysis ANRIL lncRNA Cardioembolic stroke -0.33 GGTAAGAATG(C > G,T)TACCGCTGGG chr9: 22083405 0.3838,.,0.6162 0.39529179408766564,0.00046986493374108,0.60423834097859327 Region score:0.36; TSS score:0.37; Unmatched score:0.11; Average GERP:-0.2773366336633664 GeneName:CDKN2B-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000240498; TranscriptID:ENST00000428597; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002909 28498854 NONHSAT215731.1 rs10096908 ? N/A up to 31,155 african individuals; up to 4,187 african individuals//up to 14,016 korean ancestry individuals//up to 23,914 european ancestry individuals//up to 12,278 hispanic individuals EFO_0000319 N/A Associate Systolic blood pressure rs10096908-? of NONHSAT215731.1 is significantly associated with the systolic blood pressure by using GWAS analysis in up to 31,155 african individuals; up to 4,187 african individuals//up to 14,016 korean ancestry individuals//up to 23,914 european ancestry individuals//up to 12,278 hispanic individuals(p-value = 2E-6 ;OR = 0.8292). 0.4 Single-trait and multi-trait genome-wide association analyses identify novel loci for blood pressure in African-ancestry populations. genome-wide association analysis NONHSAT215731.1 lncRNA Cardiovascular disease 0.33 GACTTGGTGG(C > T)ATCGCAAGAC chr8: 41784039 0.9032,0.09685 0.90143189347604485,0.09856810652395514 Region score:0.19; TSS score:0.2; Unmatched score:0.14; Average GERP:-0.11250396039603963 GeneName:ANK1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000029534; TranscriptID:ENST00000265709; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002910 28135244 NONHSAT083445.2 rs12628032 T N/A 140,886 european ancestry individuals; 190,318 european ancestry individuals EFO_0005763 N/A Associate Pulse pressure rs12628032-T of NONHSAT083445.2 is significantly associated with the pulse pressure by using GWAS analysis in 140,886 european ancestry individuals; 190,318 european ancestry individuals(p-value = 6E-12 ;OR = 0.24). 0.4 Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk. genome-wide association analysis NONHSAT083445.2 lncRNA Pulse pressure measurement 0.33 CCCCAGCCAG(C > T)GGCTACCAGG chr22: 19980457 0.734,0.266 0.73709066004077471,0.26290933995922528 Region score:0.43; TSS score:0.12; Unmatched score:0.54; Average GERP:-1.0872699999999995 GeneName:ARVCF; CADD-Score:2; Consquence:intron; GeneID:ENSG00000099889; TranscriptID:ENST00000263207; AnnoType:INTRONIC; mirSVR-Score:-0.0013; mirSVR-E:-12.44 | NCRV0000002911 21909108 NONHSAT195850.1 rs17045031 A N/A up to 31,211 european ancestry individuals; 10,553 european ancestry individuals//687 orcadian individuals EFO_0003914 N/A Associate Carotid intima media thickness rs17045031-A of NONHSAT195850.1 is significantly associated with the carotid intima media thickness by using GWAS analysis in up to 31,211 european ancestry individuals; 10,553 european ancestry individuals//687 orcadian individuals(p-value = 4E-7 ;OR = 0.2986). 0.4 Meta-analysis of genome-wide association studies from the CHARGE consortium identifies common variants associated with carotid intima media thickness and plaque. genome-wide association analysis NONHSAT195850.1 lncRNA Atherosclerosis 0.33 TGAGAGGCAC(G > A)TACCCCTTCA chr3: 66717940 0.9004,0.09964 0.89446355759429153,0.10553644240570846 Region score:0.38; TSS score:0.25; Unmatched score:0.14; Average GERP:-0.1436108910891089 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002912 29037553 microRNA-146a rs2910164 C Dominant 205 patients with polycystic ovary syndrome and 205 normal women as the control group. EFO_0000660 N/A increasing risk polycystic ovary syndrome rs2910164-C of hsa-mir-146a and its dysfunction is significantly associated with the increasing risk of Polycystic ovary syndrome by using case-control analysis in 205 patients with polycystic ovary syndrome and 205 normal women as the control group. 0.4 Association of miR-146a rs2910164 and miR-222 rs2858060 polymorphisms with the risk of polycystic ovary syndrome in Iranian women: A case-control study. case-control analysis hsa-mir-146a miRNA Polycystic ovary syndrome 0.33 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 0 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002913 26821981 NONHSAT212699.1 rs4731662 T N/A up to 39 european ancestry schizophrenia cases//up to 40 european ancestry schizoaffective cases EFO_0000692 antipsychotic drug Associate Antipsychotic drug dosage in schizophrenia or schizoaffective disorder rs4731662-T of NONHSAT212699.1 is significantly associated with the antipsychotic drug dosage in schizophrenia or schizoaffective disorder by using GWAS analysis in up to 39 european ancestry schizophrenia cases//up to 40 european ancestry schizoaffective cases(p-value = 5E-6 ;OR = 0.2149). 0.4 Genome-wide association analysis to predict optimal antipsychotic dosage in schizophrenia: a pilot study. genome-wide association analysis NONHSAT212699.1 lncRNA Schizophrenia 0.33 TGGGTCTTTC(C > T)TCTGGAGCAA chr7: 130142537 0.7688,0.2312 0.79704224006116207,0.20295775993883792 Region score:0.43; TSS score:0.57; Unmatched score:0.87; Average GERP:-0.40640297029702965 GeneName:AC087071.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000229196; TranscriptID:ENST00000469264; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002914 19293314 miRNA-149 rs2292832 ? N/a 1,058 incident lung cancer patients and 1,035 cancer-free controls EFO_0001071 N/A No significance for risk Lung cancer rs2292832-? of miRNA-149 and its dysfunction is not significantly associated with lung cancer by using case-control analysis in 1,058 incident lung cancer patients and 1,035 cancer-free controls. -0.4 A functional genetic variant in microRNA-196a2 is associated with increased susceptibility of lung cancer in Chinese. case-control analysis hsa-mir-149 miRNA Lung cancer -0.33 CTGGGGCAGC(T > A,C)GGAACAACGC chr2: 240456086 0.3866,.,0.6134 0.31987449031600407,0.00025484199796126,0.67987066768603465 Region score:0.3; TSS score:0.39; Unmatched score:0.89; Average GERP:1.5002722772277222 GeneName:AC110619.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000218416; TranscriptID:ENST00000404891; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GPC1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000063660; TranscriptID:ENST00000264039; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR149; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207611; TranscriptID:ENST00000384879; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000133146; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002915 24447667 miR-146a rs2910164 C Dominant 295 coronary artery disease patients and 283 controls in a chinese population EFO_0000378 N/A Increasing risk Coronary artery disease rs2910164-C of miR-146a and its dysfunction is significantly associated with the increasing risk of coronary artery disease by using case-control analysis in 295 coronary artery disease patients and 283 controls in a Chinese population. 0.4 A common variant in pre-miR-146 is associated with coronary artery disease risk and its mature miRNA expression. case-control analysis hsa-mir-146a miRNA Coronary artery disease 0.181 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 N/A 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002915 23794009 miR-146a rs2910164 C N/a 106 young indian male cad patients and 100 age-, race- and sex-matched controls EFO_0000378 N/A No significance for risk Coronary artery disease rs2910164-C of miR-146a and its dysfunction is not significantly associated with coronary artery disease by using case-control analysis in 106 young Indian male CAD patients and 100 age-, race- and sex-matched controls . -0.4 miR-146a polymorphism influences levels of miR-146a, IRAK-1, and TRAF-6 in young patients with coronary artery disease. case-control analysis hsa-mir-146a miRNA Coronary artery disease 0.181 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 N/A 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002915 26114385 miR-146a rs2910164 G Dominant 3138 coronary artery disease cases and 3097 controls EFO_0000378 N/A Decreasing risk Coronary artery disease rs2910164-G of miR-146a and its dysfunction is significantly associated with the decreasing risk of Coronary artery disease by using meta-analysis in 3138 Coronary artery disease cases and 3097 controls. 0.4 Meta-Analysis of miR-146a Polymorphisms Association with Coronary Artery Diseases and Ischemic Stroke. meta-analysis hsa-mir-146a miRNA Coronary artery disease 0.181 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 N/A 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002916 27863252 NONHSAT175429.1 rs56378716 G N/A 172,435 european ancestry individuals EFO_0004308 N/A Associate White blood cell count rs56378716-G of NONHSAT175429.1 is significantly associated with the white blood cell count by using GWAS analysis in 172,435 european ancestry individuals(p-value = 9E-13 ;OR = 0.1142649). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT175429.1 lncRNA Leukocyte count 0.33 TTGCATGAAC(A > G)TGAGTGAGCG chr17: 58279141 0.9952,0.004792 0.99255383537206931,0.00744616462793068 Region score:0.5; TSS score:0.49; Unmatched score:0.76; Average GERP:2.4658316831683167 GeneName:MPO; CADD-Score:7; Consquence:missense; GeneID:ENSG00000005381; TranscriptID:ENST00000225275; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000559774; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002917 22426473 miRNA-196a2 rs11614913 C N/a 549 pd patients and 736 control subjects EFO_0002508 N/A No significance for risk Parkinson's disease rs11614913-C of miRNA-196a2 and its dysfunction is not significantly associated with Parkinson's disease by using case-control analysis in 549 PD patients and 736 control subjects. -0.4 Lack of association of polymorphism in miRNA-196a2 with Parkinson's disease risk in a Chinese population. case-control analysis hsa-mir-196a-2 miRNA Parkinson's disease -0.33 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002918 28703219 NONHSAT201363.1 rs1874564 G N/A 410 korean ancestry cases//8,279 korean ancestry controls; 587 korean ancestry cases//605 korean ancestry controls EFO_0000641 N/A Associate Papillary thyroid cancer rs1874564-G of NONHSAT201363.1 is significantly associated with the papillary thyroid cancer by using GWAS analysis in 410 korean ancestry cases//8,279 korean ancestry controls; 587 korean ancestry cases//605 korean ancestry controls(p-value = 6E-7 ;OR = 1.31). 0.4 Genome-wide association and expression quantitative trait loci studies identify multiple susceptibility loci for thyroid cancer. genome-wide association analysis NONHSAT201363.1 lncRNA Papillary thyroid cancer 0.33 AAGGGATGCC(G > A)AGAGTTATAG chr4: 76936952 0.4882,0.5118 0.42365093017329255,0.57634906982670744 Region score:0.41; TSS score:0.4; Unmatched score:0.19; Average GERP:-0.22547029702970292 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002919 24658012 miR-146a rs57095329 G N/a 520 pediatric uveitis patients and 1204 healthy controls EFO_1001231 N/A No significance for risk Pediatric uveitis rs57095329-G of miR-146a and its dysfunction is not significantly associated with pediatric uveitis by using case-control analysis in 520 pediatric uveitis patients and 1204 healthy controls. -0.4 MicroRNA-146a and Ets-1 gene polymorphisms are associated with pediatric uveitis. case-control analysis hsa-mir-146a miRNA Uveitis -0.33 GAGAGTACAG(A > G)CAGGAAGCCT chr5: 160467840 0.8572,0.1428 0.91701707441386340,0.08298292558613659 Region score:0.55; TSS score:0.62; Unmatched score:0.87; Average GERP:3.053772277227722 GeneName:MIR3142HG; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775866; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002920 28566273 NONHSAT168677.1 rs10146997 G N/A up to 26,676 european ancestry cases//up to 132,532 european ancestry controls; 14,545 european ancestry cases//38,994 european ancestry controls EFO_0001360 N/A Associate Type 2 diabetes rs10146997-G of NONHSAT168677.1 is significantly associated with the type 2 diabetes by using GWAS analysis in up to 26,676 european ancestry cases//up to 132,532 european ancestry controls; 14,545 european ancestry cases//38,994 european ancestry controls(p-value = 2E-9 ;OR = 1.07). 0.4 An Expanded Genome-Wide Association Study of Type 2 Diabetes in Europeans. genome-wide association analysis NONHSAT168677.1 lncRNA Type ii diabetes mellitus 0.33 GTAGTTTCCA(A > G)TAGGAAGATT chr14: 79478819 0.7999,0.2001 0.75693648063200815,0.24306351936799184 Region score:0.29; TSS score:0.32; Unmatched score:0.06; Average GERP:-0.22954495049504953 GeneName:NRXN3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000021645; TranscriptID:ENST00000635466; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002921 27029810 NONHSAT179793.1 rs429358 C N/A 138,536 british ancestry mothers//133,545 british ancestry fathers; 24,168 european ancestry individuals//681 african ancestry individuals//962 afro-caribbean individuals//1,613 south asian ancestry individuals//338 chinese ancestry individuals EFO_0004300 N/A Associate Lifespan rs429358-C of NONHSAT179793.1 is significantly associated with the lifespan by using GWAS analysis in 138,536 british ancestry mothers//133,545 british ancestry fathers; 24,168 european ancestry individuals//681 african ancestry individuals//962 afro-caribbean individuals//1,613 south asian ancestry individuals//338 chinese ancestry individuals(p-value = 1E-20 ;OR = 0.1014). 0.4 Variants near CHRNA3/5 and APOE have age- and sex-related effects on human lifespan. genome-wide association analysis NONHSAT179793.1 lncRNA Longevity 0.33 GGAGGACGTG(T > C)GCGGCCGCCT chr19: 44908684 0.8494,0.1506 0.84440303261977573,0.15559696738022426 Region score:0.28; TSS score:0.39; Unmatched score:0.64; Average GERP:1.473687128712871 GeneName:AC011481.3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000280087; TranscriptID:ENST00000623895; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:APOE; CADD-Score:7; Consquence:missense; GeneID:ENSG00000130203; TranscriptID:ENST00000252486; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TOMM40; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000130204; TranscriptID:ENST00000252487; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002922 17900631 let-7a-2 rs530823266 T Dominant 96 hcc tissues EFO_0000182 N/A Increasing risk Hepatocellular carcinoma rs530823266-T of let-7a-2 and its dysfunction is significantly associated with the increasing risk of hepatocellular carcinoma by using analysis of sequence variation in 96 HCC tissues. 0.4 Analysis of sequence variations in 59 microRNAs in hepatocellular carcinomas. analysis of sequence variation hsa-let-7a-2 miRNA Hepatocellular cancer 0.33 GAATCATGAT(C > T)GTTCTCACCA chr11: 122146490 0.9998,0.0001997 0.99998407237512742,0.00001592762487257 N/A GeneName:MIR100HG; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000255248; TranscriptID:ENST00000534782; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIRLET7A2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000198975; TranscriptID:ENST00000362105; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000444950; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002923 28247064 NONHSAT168670.1 rs12889974 G N/A 3,146 individuals EFO_0000249 N/A Associate Cerebrospinal p-tau181p levels rs12889974-G of NONHSAT168670.1 is significantly associated with the cerebrospinal p-tau181p levels by using GWAS analysis in 3,146 individuals(p-value = 4E-6 ;OR = 0.05). 0.4 Genome-wide association study identifies four novel loci associated with Alzheimer's endophenotypes and disease modifiers. genome-wide association analysis NONHSAT168670.1 lncRNA Alzheimers disease 0.33 CCTCTCCTCT(C > A,G,T)GGTGATGGCA chr14: 77142955 0.9465,.,0.05351,. 0.92641437308868501,.,0.07356969928644240,0.00001592762487257 Region score:0.36; TSS score:0.6; Unmatched score:0.79; Average GERP:0.47844653465346537 GeneName:AC007375.1; CADD-Score:2; Consquence:intron,NMD; GeneID:ENSG00000259164; TranscriptID:ENST00000557752; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC007375.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000269883; TranscriptID:ENST00000600936; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000071125; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TMEM63C; CADD-Score:2; Consquence:intron; GeneID:ENSG00000165548; TranscriptID:ENST00000557408; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ZDHHC22; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000177108; TranscriptID:ENST00000319374; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002924 25082827 NONHSAT211049.1 rs2858829 ? N/A up to 7,483 european ancestry cases//up to 21,211 european ancestry controls; 1,073 european ancestry cases//1,279 european ancestry controls EFO_0000729 N/A Associate Ulcerative colitis rs2858829-? of NONHSAT211049.1 is significantly associated with the ulcerative colitis by using GWAS analysis in up to 7,483 european ancestry cases//up to 21,211 european ancestry controls; 1,073 european ancestry cases//1,279 european ancestry controls(p-value = 8E-10 ;OR = 1.12). 0.4 A genome-wide association study identifies a novel locus at 6q22.1 associated with ulcerative colitis. genome-wide association analysis NONHSAT211049.1 lncRNA Ulcerative colitis 0.451 AGTGAGGTCT(A > G)CTTCGTGTGT chr6: 116447754 0.6993,0.3007 0.66797273190621814,0.33202726809378185 Region score:0.4; TSS score:0.28; Unmatched score:0.25; Average GERP:-0.8445069306930693 GeneName:DSE; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000111817; TranscriptID:ENST00000644252; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000802811; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:Z84488.2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000285446; TranscriptID:ENST00000644499; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002924 28067908 NONHSAT211049.1 rs2858829 ? N/A 12,366 european and unknown ancestry cases//33,609 european and unknown ancestry controls EFO_0000729 N/A Associate Ulcerative colitis rs2858829-? of NONHSAT211049.1 is significantly associated with the ulcerative colitis by using GWAS analysis in 12,366 european and unknown ancestry cases//33,609 european and unknown ancestry controls(p-value = 9E-6 ;OR = ?). 0.4 Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease. genome-wide association analysis NONHSAT211049.1 lncRNA Ulcerative colitis 0.451 AGTGAGGTCT(A > G)CTTCGTGTGT chr6: 116447754 0.6993,0.3007 0.66797273190621814,0.33202726809378185 Region score:0.4; TSS score:0.28; Unmatched score:0.25; Average GERP:-0.8445069306930693 GeneName:DSE; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000111817; TranscriptID:ENST00000644252; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000802811; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:Z84488.2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000285446; TranscriptID:ENST00000644499; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002925 28183528 NONHSAT054945.2 rs2632516 G N/A 4,829 european ancestry cases//9,740 european ancestry controls//607 african american cases//2,270 african american controls//416 japanese ancestry cases//743 japanese ancestry controls//51 israeli-arab ancestry cases//64 israeli-arab ancestry controls; 2,751 european ancestry cases//11,497 european ancestry controls EFO_0000249 N/A Associate Alzheimer's disease rs2632516-G of NONHSAT054945.2 is significantly associated with the alzheimer's disease by using GWAS analysis in 4,829 european ancestry cases//9,740 european ancestry controls//607 african american cases//2,270 african american controls//416 japanese ancestry cases//743 japanese ancestry controls//51 israeli-arab ancestry cases//64 israeli-arab ancestry controls; 2,751 european ancestry cases//11,497 european ancestry controls(p-value = 4E-8 ;OR = 1.0869565). 0.4 Transethnic genome-wide scan identifies novel Alzheimer's disease loci. genome-wide association analysis NONHSAT054945.2 lncRNA Alzheimers disease 0.451 CACCCCAACC(G > C)TGAGGTCCTG chr17: 58331728 0.4718,0.5282 0.50414914627930682,0.49585085372069317 Region score:0.37; TSS score:0.42; Unmatched score:0.74; Average GERP:-0.5220009900990099 GeneName:AC004687.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000265206; TranscriptID:ENST00000579003; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR142; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284353; TranscriptID:ENST00000384835; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR4736; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000264399; TranscriptID:ENST00000581591; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000096246; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000559805; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TSPOAP1-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000265148; TranscriptID:ENST00000580515; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TSPOAP1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000005379; TranscriptID:ENST00000343736; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002925 28183528 NONHSAT054945.2 rs2632516 ? N/A 4,829 european ancestry cases//9,740 european ancestry controls//607 african american cases//2,270 african american controls//416 japanese ancestry cases//743 japanese ancestry controls//51 israeli-arab ancestry cases//64 israeli-arab ancestry controls; 2,751 european ancestry cases//11,497 european ancestry controls EFO_0000249 N/A Associate Alzheimer's disease rs2632516-? of NONHSAT054945.2 is significantly associated with the alzheimer's disease by using GWAS analysis in 4,829 european ancestry cases//9,740 european ancestry controls//607 african american cases//2,270 african american controls//416 japanese ancestry cases//743 japanese ancestry controls//51 israeli-arab ancestry cases//64 israeli-arab ancestry controls; 2,751 european ancestry cases//11,497 european ancestry controls(p-value = 4E-8 ;OR = 1.0869565). 0.4 Transethnic genome-wide scan identifies novel Alzheimer's disease loci. genome-wide association analysis NONHSAT054945.2 lncRNA Alzheimers disease 0.451 CACCCCAACC(G > C)TGAGGTCCTG chr17: 58331728 0.4718,0.5282 0.50414914627930682,0.49585085372069317 Region score:0.37; TSS score:0.42; Unmatched score:0.74; Average GERP:-0.5220009900990099 GeneName:AC004687.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000265206; TranscriptID:ENST00000579003; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR142; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284353; TranscriptID:ENST00000384835; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR4736; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000264399; TranscriptID:ENST00000581591; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000096246; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000559805; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TSPOAP1-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000265148; TranscriptID:ENST00000580515; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TSPOAP1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000005379; TranscriptID:ENST00000343736; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002926 27863252 NONHSAT217884.1 rs7826487 G N/A 169,545 european ancestry individuals EFO_0007997 N/A Associate Granulocyte percentage of myeloid white cells rs7826487-G of NONHSAT217884.1 is significantly associated with the granulocyte percentage of myeloid white cells by using GWAS analysis in 169,545 european ancestry individuals(p-value = 2E-22 ;OR = 0.05472916). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT217884.1 lncRNA Granulocyte percentage of myeloid white cells 0.33 GCCTCTCTAT(A > G)ATATTGTTGA chr8: 7023403 0.8401,0.1599 0.83071323904179408,0.16928676095820591 Region score:0.3; TSS score:0.29; Unmatched score:0.14; Average GERP:-0.018247524752475222 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002927 28892062 NONHSAT152710.1 rs10754220 A N/A up to 72,390 japanese ancestry women//up to 85,894 japanese ancestry men; up to 10,048 japanese ancestry women//up to 5,098 japanese ancestry men//up to 181,999 european ancestry women//up to 140,155 european ancestry controls EFO_0001073 N/A Associate Body mass index rs10754220-A of NONHSAT152710.1 is significantly associated with the body mass index by using GWAS analysis in up to 72,390 japanese ancestry women//up to 85,894 japanese ancestry men; up to 10,048 japanese ancestry women//up to 5,098 japanese ancestry men//up to 181,999 european ancestry women//up to 140,155 european ancestry controls(p-value = 8E-9 ;OR = 0.018). 0.4 Genome-wide association study identifies 112 new loci for body mass index in the Japanese population. genome-wide association analysis NONHSAT152710.1 lncRNA Obesity 0.33 TTATAAGGAC(G > A)TCAGTCATAT chr1: 197275160 0.8089,0.1911 0.78099515800203873,0.21900484199796126 Region score:0.24; TSS score:0.09; Unmatched score:0.08; Average GERP:-0.08234881188118814 GeneName:CRB1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000134376; TranscriptID:ENST00000367400; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002928 26831199 NONHSAT101850.2 rs11960179 A N/A 133,413 european ancestry individuals; 42,166 european ancestry individuals//up to 16,471 african ancestry individuals//up to 42,296 asian ancestry individuals EFO_0003884 creatinine Associate Glomerular filtration rate (creatinine) rs11960179-A of NONHSAT101850.2 is significantly associated with the glomerular filtration rate (creatinine) by using GWAS analysis in 133,413 european ancestry individuals; 42,166 european ancestry individuals//up to 16,471 african ancestry individuals//up to 42,296 asian ancestry individuals(p-value = 2E-7 ;OR = 0.0069). 0.4 Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function. genome-wide association analysis NONHSAT101850.2 lncRNA Chronic kidney disease 0.33 TAGCAGAGCA(G > A)CAAGTTGAAG chr5: 68524390 0.9359,0.0641 0.89990284148827726,0.10009715851172273 Region score:0.35; TSS score:0.17; Unmatched score:0.32; Average GERP:-0.26945940594059403 GeneName:AC010280.3; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000249588; TranscriptID:ENST00000515504; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002929 22036096 NONHSAT207123.1 rs7775228 C N/A 2,315 european ancestry cases//10,032 european ancestry controls EFO_0003956 N/A Associate Ige grass sensitization rs7775228-C of NONHSAT207123.1 is significantly associated with the ige grass sensitization by using GWAS analysis in 2,315 european ancestry cases//10,032 european ancestry controls(p-value = 2E-9 ;OR = 1.33). 0.4 A genome-wide meta-analysis of genetic variants associated with allergic rhinitis and grass sensitization and their interaction with birth order. genome-wide association analysis NONHSAT207123.1 lncRNA Seasonal allergic rhinitis 0.33 CTAGGCAAGA(T > C)TGTGATTGAA chr6: 32690302 0.7861,0.2139 0.84386149337410805,0.15613850662589194 Region score:0.29; TSS score:0.39; Unmatched score:0.39; Average GERP:-0.010510891089108914 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002930 26502338 NONHSAT017295.2 rs58688157 A N/A 5,201 european ancestry cases//9,066 european ancestry controls EFO_0002690 N/A Associate Systemic lupus erythematosus rs58688157-A of NONHSAT017295.2 is significantly associated with the systemic lupus erythematosus by using GWAS analysis in 5,201 european ancestry cases//9,066 european ancestry controls(p-value = 5E-13 ;OR = 1.24). 0.4 Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus. genome-wide association analysis NONHSAT017295.2 lncRNA Systemic lupus erythematosus 0.33 AAGGAGGGGC(A > G)GTCGTTTGGC chr11: 625085 0.7133,0.2867 0.64880383537206931,0.35119616462793068 Region score:0.64; TSS score:0.66; Unmatched score:0.87; Average GERP:-0.8347679207920787 GeneName:CDHR5; CADD-Score:3; Consquence:5_prime_UTR; GeneID:ENSG00000099834; TranscriptID:ENST00000358353; AnnoType:5PRIME_UTR; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000421036; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SCT; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000070031; TranscriptID:ENST00000176195; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002931 26830138 NONHSAT141048.2 rs145049847 C N/A 2,478 european ancestry cases//979 ancestry controls both from the same 1,070 families EFO_0000249 N/A Associate Alzheimer disease and age of onset rs145049847-C of NONHSAT141048.2 is significantly associated with the alzheimer disease and age of onset by using GWAS analysis in 2,478 european ancestry cases//979 ancestry controls both from the same 1,070 families(p-value = 8E-9 ;OR = 5.771). 0.4 Family-based association analyses of imputed genotypes reveal genome-wide significant association of Alzheimer's disease with OSBPL6, PTPRG, and PDCL3. genome-wide association analysis NONHSAT141048.2 lncRNA Alzheimers disease 0.33 CGCTCCTGCT(C > G)CGCCCCCTGA chr16: 22190681 0.9976,0.002396 0.99838334607543323,0.00161665392456676 Region score:0.54; TSS score:0.37; Unmatched score:0.76; Average GERP:-1.293011782178218 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000533650; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SDR42E2; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000183921; TranscriptID:ENST00000602312; AnnoType:3PRIME_UTR; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002932 21102463 NONHSAT191891.1 rs2838519 G N/A 6,333 european ancestry cases//15,056 european ancestry controls; 15,694 european ancestry cases//14,026 european ancestry controls//414 european ancestry trios EFO_0000384 N/A Associate Crohn's disease rs2838519-G of NONHSAT191891.1 is significantly associated with the crohn's disease by using GWAS analysis in 6,333 european ancestry cases//15,056 european ancestry controls; 15,694 european ancestry cases//14,026 european ancestry controls//414 european ancestry trios(p-value = 2E-14 ;OR = 1.18). 0.4 Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. genome-wide association analysis NONHSAT191891.1 lncRNA Crohn's disease 0.33 TTCACGGTTC(G > A,C)TGATTTGGTT chr21: 44195140 0.4375,0.5625,. 0.93354198521916411,0.06637837665647298,0.00007963812436289 Region score:0.37; TSS score:0.43; Unmatched score:0.26; Average GERP:0.04303168316831687 GeneName:AP001056.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000285413; TranscriptID:ENST00000645813; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GATD3A; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000160221; TranscriptID:ENST00000449622; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000664580; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002933 28135244 NONHSAT001665.2 rs6686889 T N/A 140,886 european ancestry individuals; 190,318 european ancestry individuals EFO_0006336 N/A Associate Diastolic blood pressure rs6686889-T of NONHSAT001665.2 is significantly associated with the diastolic blood pressure by using GWAS analysis in 140,886 european ancestry individuals; 190,318 european ancestry individuals(p-value = 4E-9 ;OR = 0.185). 0.4 Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk. genome-wide association analysis NONHSAT001665.2 lncRNA Diastolic blood pressure 0.33 CCCAGCTACT(C > G,T)GAGAGGCTGA chr1: 24703979 0.6264,.,0.3736 0.69293928389398572,0.01183422528032619,0.29522649082568807 Region score:0.2; TSS score:0.14; Unmatched score:0.12; Average GERP:0.1019473684210524 GeneName:AL445648.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284699; TranscriptID:ENST00000641176; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002934 25226531 NONHSAT162562.1 rs11106179 A N/A 6,851 european ancestry 15-18-month-old children//6,299 european ancestry 24-30-month-old children; 2,038 european ancestry 15-18-month-old children//4,520 european ancestry 24-30-month-old children EFO_0006316 N/A Associate Expressive vocabulary in infants rs11106179-A of NONHSAT162562.1 is significantly associated with the expressive vocabulary in infants by using GWAS analysis in 6,851 european ancestry 15-18-month-old children//6,299 european ancestry 24-30-month-old children; 2,038 european ancestry 15-18-month-old children//4,520 european ancestry 24-30-month-old children(p-value = 3E-6 ;OR = 0.087). 0.4 Common variation near ROBO2 is associated with expressive vocabulary in infancy. genome-wide association analysis NONHSAT162562.1 lncRNA Infant expressive language ability 0.33 ACAACTTTCT(G > A)TATCCTGAAC chr12: 91502635 0.9099,0.09006 0.86420107033639143,0.13579892966360856 Region score:0.2; TSS score:0.06; Unmatched score:0.01; Average GERP:0.12190099009900984 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002935 25648963 NONHSAT188523.1 rs6046393 T N/A up to 27,337 european ancestry individuals//up to 472 korkulan individuals//up to 1,267 erasmus rucphen family individuals; up to 10,617 european ancestry individuals//up to 3,811 african american individuals EFO_0006805 N/A Associate Verbal declarative memory rs6046393-T of NONHSAT188523.1 is significantly associated with the verbal declarative memory by using GWAS analysis in up to 27,337 european ancestry individuals//up to 472 korkulan individuals//up to 1,267 erasmus rucphen family individuals; up to 10,617 european ancestry individuals//up to 3,811 african american individuals(p-value = 2E-6 ;OR = 0.2954). 0.4 Genome-wide studies of verbal declarative memory in nondemented older people: the Cohorts for Heart and Aging Research in Genomic Epidemiology consortium. genome-wide association analysis NONHSAT188523.1 lncRNA Word list delayed recall measurement 0.33 TAGGTTGGCT(T > C)GTTCTAGGTT chr20: 19871606 0.7456,0.2544 0.76708237767584097,0.23291762232415902 Region score:0.31; TSS score:0.25; Unmatched score:0.06; Average GERP:-0.6706752475247523 GeneName:RIN2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000132669; TranscriptID:ENST00000432334; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002936 24816252 NONHSAT083312.2 rs2540647 A N/A up to 5,591 european ancestry individuals; up to 1,767 european ancestry individuals EFO_0005664 N/A Associate Blood metabolite ratios rs2540647-A of NONHSAT083312.2 is significantly associated with the blood metabolite ratios by using GWAS analysis in up to 5,591 european ancestry individuals; up to 1,767 european ancestry individuals(p-value = 2E-70 ;OR = 0.059). 0.4 An atlas of genetic influences on human blood metabolites. genome-wide association analysis NONHSAT083312.2 lncRNA Blood metabolite measurement 0.33 ACACCCAGCC(G > A)TCCTCACCTG chr22: 18979104 0.9762,0.02376 0.94703268348623853,0.05296731651376146 Region score:0.31; TSS score:0.23; Unmatched score:0.07; Average GERP:-0.2691153846153849 GeneName:AC007326.3; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000283583; TranscriptID:ENST00000636418; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:DGCR5; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000237517; TranscriptID:ENST00000438934; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:DGCR9; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000273032; TranscriptID:ENST00000440005; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002937 19060910 NONHSAT031256.2 rs2650000 A N/A 4,763 northern finnish founder individuals GO_0006954 N/A Associate Metabolic traits rs2650000-A of NONHSAT031256.2 is significantly associated with the metabolic traits by using GWAS analysis in 4,763 northern finnish founder individuals(p-value = 3E-11 ;OR = 0.4). 0.4 Genome-wide association analysis of metabolic traits in a birth cohort from a founder population. genome-wide association analysis NONHSAT031256.2 lncRNA N/a 0.33 GTCTCAAATT(A > C)TCTGACAACT chr12: 120951159 0.3087,0.6913 0.29076675586136595,0.70923324413863404 Region score:0.32; TSS score:0.13; Unmatched score:0.16; Average GERP:-0.4109386138613862 GeneName:HNF1A-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000241388; TranscriptID:ENST00000619441; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002938 20010835 NONHSAT133371.2 rs16909898 A N/A 20,890 european ancestry individuals; 16,178 european ancestry individuals EFO_0003892 N/A Associate Pulmonary function rs16909898-A of NONHSAT133371.2 is significantly associated with the pulmonary function by using GWAS analysis in 20,890 european ancestry individuals; 16,178 european ancestry individuals(p-value = 5E-7 ;OR = 0.5). 0.4 Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function. genome-wide association analysis NONHSAT133371.2 lncRNA Pulmonary function measurement 0.451 GAAGACAGGA(A > G)GAGCCTTAAG chr9: 95468726 0.9121,0.08786 0.89730663863404689,0.10269336136595310 Region score:0.4; TSS score:0.16; Unmatched score:0.31; Average GERP:0.4754940594059413 GeneName:PTCH1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000185920; TranscriptID:ENST00000331920; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002938 23284291 NONHSAT133371.2 rs16909898 ? N/A 50,047 european ancestry individuals EFO_0003892 smoking interaction Associate Pulmonary function (smoking interaction) rs16909898-? of NONHSAT133371.2 is significantly associated with the pulmonary function (smoking interaction) by using GWAS analysis in 50,047 european ancestry individuals(p-value = 8E-12 ;OR = ?). 0.4 Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function. genome-wide association analysis NONHSAT133371.2 lncRNA Pulmonary function measurement 0.451 GAAGACAGGA(A > G)GAGCCTTAAG chr9: 95468726 0.9121,0.08786 0.89730663863404689,0.10269336136595310 Region score:0.4; TSS score:0.16; Unmatched score:0.31; Average GERP:0.4754940594059413 GeneName:PTCH1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000185920; TranscriptID:ENST00000331920; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002939 26152337 hsa-mir-612 rs550894 A N/A 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A no significance for risk hepatocellular carcinoma rs550894-A of hsa-mir-612 and its dysfunction is not significantly associated with Hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors -0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. case-control analysis hsa-mir-612 miRNA Hepatocellular carcinoma -0.33 CCCATCTGGA(C > A)CCTGCTGGGC chr11: 65444469 0.7845,0.2155 0.86146151885830784,0.13853848114169215 Region score:0.34; TSS score:0.45; Unmatched score:0.78; Average GERP:-0.08942970297029702 GeneName:MIR612; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000283791; TranscriptID:ENST00000384994; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NEAT1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000245532; TranscriptID:ENST00000501122; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01684; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000275948; TranscriptID:ENST00000616984; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002940 29064472 NONHSAT213948.1 rs17867775 T N/A 114 african ancestry schizophrenia cases//69 african schizo-affective cases//41 african ancestry bipolar disorder cases//76 african ancestry controls//116 european ancestry schizophrenia cases//86 european ancestry schizo-affective cases//165 european ancestry bipolar disorder cases//182 european ancestry controls EFO_0000677 N/A Associate Anti-saccade response rs17867775-T of NONHSAT213948.1 is significantly associated with the anti-saccade response by using GWAS analysis in 114 african ancestry schizophrenia cases//69 african schizo-affective cases//41 african ancestry bipolar disorder cases//76 african ancestry controls//116 european ancestry schizophrenia cases//86 european ancestry schizo-affective cases//165 european ancestry bipolar disorder cases//182 european ancestry controls(p-value = 6E-6 ;OR = ?). 0.4 Genome-wide association studies of smooth pursuit and antisaccade eye movements in psychotic disorders: findings from the B-SNIP study. genome-wide association analysis NONHSAT213948.1 lncRNA Mental or behavioural disorder 0.33 AGTAGGTAAG(C > T)CCTGCCTCAA chr7: 127150893 0.9026,0.09744 0.92060875382262996,0.07939124617737003 Region score:0.36; TSS score:0.25; Unmatched score:0.05; Average GERP:-0.6860475247524754 GeneName:GRM8; CADD-Score:2; Consquence:intron; GeneID:ENSG00000179603; TranscriptID:ENST00000339582; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000838574; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002941 27444415 miR-143 rs353292 T Dominant 809 patients with CRC and 1005 gender matched controls EFO_0005842 N/A increasing risk colorectal cancer rs353292-T of hsa-mir-143 and its dysfunction is significantly associated with the increasing risk of Colorectal cancer by using case-control analysis in 809 patients with CRC and 1005 gender matched controls 0.9 A functional variant rs353292 in the flanking region of miR-143/145 contributes to the risk of colorectal cancer. case-control analysis hsa-mir-143 miRNA Colorectal cancer 0.593 CAGCCTGAGG(G > A)CAATGGGGAG chr5: 149428245 0.7198,0.2802 0.66234231651376146,0.33765768348623853 Region score:0.34; TSS score:0.26; Unmatched score:0.24; Average GERP:-0.7598297029702971 GeneName:AC131025.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000275871; TranscriptID:ENST00000622374; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0004; mirSVR-E:-15.10 | GeneName:CARMN; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000249669; TranscriptID:ENST00000602964; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0004; mirSVR-E:-15.10 | GeneName:MIR143; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284182; TranscriptID:ENST00000385300; AnnoType:UPSTREAM; mirSVR-Score:-0.0004; mirSVR-E:-15.10 | GeneName:MIR145; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000276365; TranscriptID:ENST00000384967; AnnoType:UPSTREAM; mirSVR-Score:-0.0004; mirSVR-E:-15.10 | NCRV0000002942 23761726 NONHSAT116202.2 rs438465 C N/A 2,784 european ancestry individuals; HP_0000483 N/A Associate Corneal astigmatism rs438465-C of NONHSAT116202.2 is significantly associated with the corneal astigmatism by using GWAS analysis in 2,784 european ancestry individuals; (p-value = 7E-6 ;OR = 0.173). 0.4 Interrogation of the platelet-derived growth factor receptor alpha locus and corneal astigmatism in Australians of Northern European ancestry: results of a genome-wide association study. genome-wide association analysis NONHSAT116202.2 lncRNA Astigmatism 0.33 TGGAATTCCA(T > C,G)CCAGTGCGTG chr6: 169420286 0.271,0.729,. 0.18980154179408766,0.81018253058103975,0.00001592762487257 Region score:0.4; TSS score:0.38; Unmatched score:0.11; Average GERP:-0.13743178217821783 GeneName:AL009176.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000285887; TranscriptID:ENST00000649318; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AL031315.1; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000285733; TranscriptID:ENST00000648086; AnnoType:3PRIME_UTR; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002943 27863252 NONHSAT188655.1 rs6141743 G N/A 170,763 european ancestry individuals EFO_0007986 N/A Associate High light scatter reticulocyte count rs6141743-G of NONHSAT188655.1 is significantly associated with the high light scatter reticulocyte count by using GWAS analysis in 170,763 european ancestry individuals(p-value = 8E-9 ;OR = 0.02472932). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT188655.1 lncRNA Reticulocyte count 0.33 TATAATTGTA(C > G,T)CAGCCAAATG chr20: 32519596 0.643,0.357,. 0.73357065494393476,0.26642138124362895,0.00000796381243628 Region score:0.34; TSS score:0.19; Unmatched score:0.19; Average GERP:-0.5750381188118814 GeneName:AL034550.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000277301; TranscriptID:ENST00000620523; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NOL4L; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197183; TranscriptID:ENST00000621426; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002944 28017375 NONHSAT164350.1 rs10849023 ? N/A up to 40,258 european ancestry individuals//up to 16,128 african american individuals//up to 15,252 east asian individuals.; 16,389 individuals of european and african american ancestry. EFO_0004305 N/A Associate Red blood cell count rs10849023-? of NONHSAT164350.1 is significantly associated with the red blood cell count by using GWAS analysis in up to 40,258 european ancestry individuals//up to 16,128 african american individuals//up to 15,252 east asian individuals.; 16,389 individuals of european and african american ancestry.(p-value = 3E-11 ;OR = ?). 0.4 Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis. genome-wide association analysis NONHSAT164350.1 lncRNA Erythrocyte count 0.33 AAAGCAACCA(C > T)GGGAATCTTT chr12: 4223312 0.7841,0.2159 0.78052529306829765,0.21947470693170234 Region score:0.42; TSS score:0.31; Unmatched score:0.12; Average GERP:-0.5879930693069305 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002945 24816252 NONHSAT220244.1 rs7849270 A N/A up to 5,591 european ancestry individuals; up to 1,767 european ancestry individuals EFO_0005664 N/A Associate Blood metabolite ratios rs7849270-A of NONHSAT220244.1 is significantly associated with the blood metabolite ratios by using GWAS analysis in up to 5,591 european ancestry individuals; up to 1,767 european ancestry individuals(p-value = 3E-21 ;OR = 0.025). 0.4 An atlas of genetic influences on human blood metabolites. genome-wide association analysis NONHSAT220244.1 lncRNA Blood metabolite measurement 0.33 ACCTACCTTG(A > G)ACTAAGAAGG chr9: 129112362 0.384,0.616 0.41151408002038735,0.58848591997961264 Region score:0.18; TSS score:0.24; Unmatched score:0.68; Average GERP:-0.5588683168316831 GeneName:CRAT; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000095321; TranscriptID:ENST00000318080; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000337912; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PTPA; CADD-Score:2; Consquence:intron; GeneID:ENSG00000119383; TranscriptID:ENST00000393370; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002946 24816252 NONHSAT095147.2 rs938554 C N/A 7,824 european ancestry individuals EFO_0005664 N/A Associate Blood metabolite levels rs938554-C of NONHSAT095147.2 is significantly associated with the blood metabolite levels by using GWAS analysis in 7,824 european ancestry individuals(p-value = 6E-93 ;OR = 0.035). 0.4 An atlas of genetic influences on human blood metabolites. genome-wide association analysis NONHSAT095147.2 lncRNA Blood metabolite measurement 0.33 AGTTCTGAGA(C > G)CCCTGAAGGT chr4: 9924068 0.264,0.736 0.28252420998980632,0.71747579001019367 Region score:0.24; TSS score:0.21; Unmatched score:0.48; Average GERP:-0.0467029702970297 GeneName:AC108199.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000249219; TranscriptID:ENST00000504249; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SLC2A9; CADD-Score:2; Consquence:intron; GeneID:ENSG00000109667; TranscriptID:ENST00000264784; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002947 28644415 NONHSAT167326.1 rs17338417 ? N/A 141 individuals EFO_0008111 N/A Associate Prudent dietary pattern rs17338417-? of NONHSAT167326.1 is significantly associated with the prudent dietary pattern by using GWAS analysis in 141 individuals(p-value = 2E-6 ;OR = ?). 0.4 Genome-Wide Association Study of Dietary Pattern Scores.LID - E649 [pii]LID - 10.3390/nu9070649 [doi]AB - Dietary patterns, representing global food supplies rather than specific nutrients or food intakes, have been associated with cardiovascul genome-wide association analysis NONHSAT167326.1 lncRNA Diet measurement 0.33 GCATGTGCTT(C > T)TGAAAGTCTT chr13: 114271902 0.9934,0.006589 0.98911346839959225,0.01088653160040774 Region score:0.26; TSS score:0.12; Unmatched score:0.2; Average GERP:-1.459361386138613 GeneName:AL160396.2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000285672; TranscriptID:ENST00000649577; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CDC16; CADD-Score:2; Consquence:intron; GeneID:ENSG00000130177; TranscriptID:ENST00000360383; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR4502; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000265450; TranscriptID:ENST00000580432; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002948 20881960 NONHSAT112146.2 rs6938239 ? N/A 133,653 european ancestry individuals; 50,074 european ancestry individuals EFO_0004339 N/A Associate Height rs6938239-? of NONHSAT112146.2 is significantly associated with the height by using GWAS analysis in 133,653 european ancestry individuals; 50,074 european ancestry individuals(p-value = 6E-12 ;OR = ?). 0.4 Hundreds of variants clustered in genomic loci and biological pathways affect human height. genome-wide association analysis NONHSAT112146.2 lncRNA Body height 0.33 GATCCCCTCC(G > A)AGGAGCACCC chr6: 34715858 0.113,0.887 0.15278574159021406,0.84721425840978593 Region score:0.41; TSS score:0.15; Unmatched score:0.47; Average GERP:0.04926262626262626 GeneName:AL451165.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000186328; TranscriptID:ENST00000334441; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000788598; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002949 20167074 miR-191 rs1283868099 A Dominant 83 non-related probands from families with inherited ovarian cancer Orphanet_213517 N/A increasing risk Familial ovarian cancer rs1283868099-A of hsa-mir-191 and its dysfunction is significantly associated with the increasing risk of Familial ovarian cancer by using analysis of sequence variation in 83 non-related probands from families with inherited ovarian cancer 0.4 Novel genetic variants in miR-191 gene and familial ovarian cancer. analysis of sequence variation hsa-mir-191 miRNA Familial ovarian cancer 0.33 GATTCCGTTG(C > T)CCGCTGTCCA chr3: 49020695 0 0.99999203618756371,0.00000796381243628 - GeneName:DALRD3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000178149; TranscriptID:ENST00000341949; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:IMPDH2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000178035; TranscriptID:ENST00000326739; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR191; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207605; TranscriptID:ENST00000384873; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR425; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000199032; TranscriptID:ENST00000362162; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000303946; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NDUFAF3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000178057; TranscriptID:ENST00000326925; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:WDR6; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000178252; TranscriptID:ENST00000395474; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002950 23934736 NONHSAT071625.2 rs13538 A N/A 1,260 african american individuals EFO_0005276 N/A Associate Metabolite levels (x-11787) rs13538-A of NONHSAT071625.2 is significantly associated with the metabolite levels (x-11787) by using GWAS analysis in 1,260 african american individuals(p-value = 2E-23 ;OR = 0.09). 0.4 Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study. genome-wide association analysis NONHSAT071625.2 lncRNA Hydroxy-leucine measurement 0.33 ACTGTCCACA(A > G)AGAGATGAAA chr2: 73641201 0.7304,0.2696 0.69170489296636085,0.30829510703363914 Region score:0.18; TSS score:0.47; Unmatched score:0.73; Average GERP:-0.02917128712871282 GeneName:ALMS1P1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000163016; TranscriptID:ENST00000450720; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000610056; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NAT8; CADD-Score:7; Consquence:missense; GeneID:ENSG00000144035; TranscriptID:ENST00000272425; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002951 16251535 miR-29b-2 chr1:207975681 insA Dominant 75 patients with cll and 160 control subjects EFO_0000095 N/A Increasing risk Chronic lymphocytic leukemia chr1:207975681-insA of miR-29b-2 and its dysfunction is significantly associated with the increasing risk of chronic lymphocytic leukemia by using case-control analysis in 75 patients with CLL and 160 control subjects. 0.4 A MicroRNA signature associated with prognosis and progression in chronic lymphocytic leukemia. case-control analysis hsa-mir-29b-2 miRNA Chronic lymphocytic leukemia 0.33 N/A N/A N/A N/A N/A N/A NCRV0000002952 18356149 miR-323 chr14:101492193 A Dominant >100 human tumor tissues and 20 cancer cell lines EFO_0005842 N/A Increasing risk Colorectal cancer chr14:101492193-A of miR-323 and its dysfunction is significantly associated with the increasing risk of colorectal cancer by using case-control analysis in >100 human tumor tissues and 20 cancer cell lines. 0.4 Genetic variations of microRNAs in human cancer and their effects on the expression of miRNAs. case-control analysis hsa-mir-323a miRNA Colorectal cancer 0.33 N/A N/A N/A N/A N/A N/A NCRV0000002953 22778062 SNORD114-14 rs73350964 A N/a N/a function N/A Not significant changes in the structure Function rs73350964-A of SNORD114-14 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD114-14 snoRNA Function -0.049 TGAATAATAC(G > A)TGTCTAGAAC chr14: 100972155 0.8924,0.1076 0.93468877420998980,0.06531122579001019 Region score:0.47; TSS score:0.14; Unmatched score:0.41; Average GERP:-0.9580980198019803 GeneName:MEG8; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000225746; TranscriptID:ENST00000638012; AnnoType:INTRONIC; mirSVR-Score:-0.7984; mirSVR-E:-26.17 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000073219; AnnoType:REGULATORY; mirSVR-Score:-0.7984; mirSVR-E:-26.17 | GeneName:SNORD114-11; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000200608; TranscriptID:ENST00000363738; AnnoType:DOWNSTREAM; mirSVR-Score:-0.7984; mirSVR-E:-26.17 | GeneName:SNORD114-12; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000202270; TranscriptID:ENST00000365400; AnnoType:DOWNSTREAM; mirSVR-Score:-0.7984; mirSVR-E:-26.17 | GeneName:SNORD114-13; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000201247; TranscriptID:ENST00000364377; AnnoType:DOWNSTREAM; mirSVR-Score:-0.7984; mirSVR-E:-26.17 | GeneName:SNORD114-14; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000199593; TranscriptID:ENST00000362723; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.7984; mirSVR-E:-26.17 | GeneName:SNORD114-15; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000201557; TranscriptID:ENST00000364687; AnnoType:UPSTREAM; mirSVR-Score:-0.7984; mirSVR-E:-26.17 | GeneName:SNORD114-16; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000199914; TranscriptID:ENST00000363044; AnnoType:UPSTREAM; mirSVR-Score:-0.7984; mirSVR-E:-26.17 | GeneName:SNORD114-17; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000201569; TranscriptID:ENST00000364699; AnnoType:UPSTREAM; mirSVR-Score:-0.7984; mirSVR-E:-26.17 | GeneName:SNORD114-18; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000202142; TranscriptID:ENST00000365272; AnnoType:UPSTREAM; mirSVR-Score:-0.7984; mirSVR-E:-26.17 | GeneName:SNORD114-19; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000199942; TranscriptID:ENST00000363072; AnnoType:UPSTREAM; mirSVR-Score:-0.7984; mirSVR-E:-26.17 | NCRV0000002954 23251661 NONHSAT184938.1 rs6708331 A N/A 815 hispanic children from 263 families EFO_0001073 N/A Associate Obesity-related traits rs6708331-A of NONHSAT184938.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 6E-6 ;OR = 0.04). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. genome-wide association analysis NONHSAT184938.1 lncRNA Obesity 0.33 GTTCAGGGAT(G > A)GGCCCTTTGC chr2: 70141791 0.8199,0.1801 0.75996272935779816,0.24003727064220183 Region score:0.26; TSS score:0.36; Unmatched score:0.56; Average GERP:0.043285148514851456 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000609234; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002955 28342055 HOTAIR rs12826786 T dominant 105 gastric cancer patients and 207 healthy controls matched on age and gender in a Turkish population EFO_0000178 N/A no significance for risk gastric carcinoma rs12826786-T of HOTAIR and its dysfunction is not significantly associated with Gastric carcinoma by using case-control analysis in 105 gastric cancer patients and 207 healthy controls matched on age and gender in a Turkish population -0.4 The analysis of lncRNA HOTAIR rs12826786 C>T polymorphism and gastric cancer susceptibility in a Turkish population: lack of any association in a hospital-based case-control study. case-control analysis HOTAIR lncRNA Gastric carcinoma -0.33 GTGAATTAGA(C > T)CTTTATCCTA chr12: 53961717 0.6424,0.3576 0.62241176095820591,0.37758823904179408 Region score:0.26; TSS score:0.59; Unmatched score:0.66; Average GERP:-0.08039504950495045 GeneName:HOTAIR; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000228630; TranscriptID:ENST00000424518; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC12; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000123407; TranscriptID:ENST00000243103; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000052264; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000458640; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01905; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000275589; TranscriptID:ENST00000611210; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01906; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277994; TranscriptID:ENST00000611352; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002956 23111177 CDKN2B-AS1 rs1063192 ? Dominant 976 poag cases from the glaucoma genes and environment (glaugen) study and 1971 cases from the national eye institute glaucoma human genetics collaboration (neighbor) consortium EFO_0004190 N/A Decreasing risk Primary open-angle glaucoma rs1063192-? of CDKN2B-AS1 and its dysfunction is significantly associated with the decreasing risk of primary open-angle glaucoma by using case-control analysis in 976 POAG cases from the Glaucoma Genes and Environment (GLAUGEN) study and 1971 cases from the National Eye Institute Glaucoma Human Genetics Collaboration (NEIGHBOR) consortium. 0.4 CDKN2B-AS1 genotype-glaucoma feature correlations in primary open-angle glaucoma patients from the United States. case-control analysis CDKN2B-AS1 lncRNA Open-angle glaucoma 0.33 CTTAATATCA(G > A,T)GTTGTCATTA chr9: 22003368 0.2053,0.7947,. 0.27850248470948012,0.71796158256880733,0.00353593272171253 Region score:0.35; TSS score:0.62; Unmatched score:0.65; Average GERP:0.1611920792079208 GeneName:AL359922.1; CADD-Score:2; Consquence:intron,NMD; GeneID:ENSG00000264545; TranscriptID:ENST00000404796; AnnoType:INTRONIC; mirSVR-Score:-0.4691; mirSVR-E:-20.38 | GeneName:CDKN2B-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000240498; TranscriptID:ENST00000428597; AnnoType:INTRONIC; mirSVR-Score:-0.4691; mirSVR-E:-20.38 | GeneName:CDKN2B; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000147883; TranscriptID:ENST00000276925; AnnoType:3PRIME_UTR; mirSVR-Score:-0.4691; mirSVR-E:-20.38 | NCRV0000002957 22778062 SNORD115-11 rs8179188 T N/a N/a function N/A Not significant changes in the structure Function rs8179188-T of SNORD115-11 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD115-11 snoRNA Function -0.049 CGCTGAGGCC(C > T)AGCTTAGGTG chr15: 25189495 0.9042,0.09585 0.95603975535168195,0.04396024464831804 Region score:0.23; TSS score:0.09; Unmatched score:0.46; Average GERP:-0.39477227722772296 GeneName:SNHG14; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000224078; TranscriptID:ENST00000414175; AnnoType:INTRONIC; mirSVR-Score:-0.0172; mirSVR-E:-17.97 | GeneName:SNORD115-10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000201943; TranscriptID:ENST00000365073; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0172; mirSVR-E:-17.97 | GeneName:SNORD115-11; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000200486; TranscriptID:ENST00000363616; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0172; mirSVR-E:-17.97 | GeneName:SNORD115-12; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000199453; TranscriptID:ENST00000362583; AnnoType:UPSTREAM; mirSVR-Score:-0.0172; mirSVR-E:-17.97 | GeneName:SNORD115-13; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000273835; TranscriptID:ENST00000363358; AnnoType:UPSTREAM; mirSVR-Score:-0.0172; mirSVR-E:-17.97 | GeneName:SNORD115-9; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000199782; TranscriptID:ENST00000362912; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0172; mirSVR-E:-17.97 | NCRV0000002958 25317112 NONHSAT191800.1 rs11088226 G N/A 977 korean ancestry female cases//3,622 korean ancestry female controls//804 korean ancestry male cases//3,335 korean ancestry male controls EFO_0000217 N/A Associate Gastritis rs11088226-G of NONHSAT191800.1 is significantly associated with the gastritis by using GWAS analysis in 977 korean ancestry female cases//3,622 korean ancestry female controls//804 korean ancestry male cases//3,335 korean ancestry male controls(p-value = 4E-6 ;OR = 1.3). 0.4 Epidemiological and genome-wide association study of gastritis or gastric ulcer in korean populations. genome-wide association analysis NONHSAT191800.1 lncRNA Gastritis 0.33 ACCCTACTCC(C > G)CGATGTGAGA chr21: 32553221 0.7953,0.2047 0.80123120540265035,0.19876879459734964 Region score:0.3; TSS score:0.2; Unmatched score:0.07; Average GERP:0.11567326732673265 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002959 27863252 NONHSAT167237.1 rs1887639 C N/A 170,721 european ancestry individuals EFO_0005091 N/A Associate Monocyte count rs1887639-C of NONHSAT167237.1 is significantly associated with the monocyte count by using GWAS analysis in 170,721 european ancestry individuals(p-value = 4E-11 ;OR = 0.02382637). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT167237.1 lncRNA Monocyte count 0.33 TTGGGCTGCA(T > C)ACCACGGTGG chr13: 109374581 0.6619,0.3381 0.58056989041794087,0.41943010958205912 Region score:0.32; TSS score:0.26; Unmatched score:0.1; Average GERP:-2.4873417821782176 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002960 24682535 MIR-128a rs11888095 T N/A 132 type 2 diabetes patients (T2D) analysed for Diabetic polyneuropathy (DPN) and 128 T2D patients analysed for cardiovascular autonomic neuropathy (CAN) EFO_1000783 N/A increasing risk diabetic neuropathy rs11888095 -T of hsa-mir-128-1 and its dysfunction is significantly associated with the increasing risk of Diabetic neuropathy by using case-control analysis in 132 type 2 diabetes patients (T2D) analysed for Diabetic polyneuropathy (DPN) and 128 T2D patients analysed for cardiovascular autonomic neuropathy (CAN) 0.4 Common polymorphisms in MIR146a, MIR128a and MIR27a genes contribute to neuropathy susceptibility in type 2 diabetes. case-control analysis hsa-mir-128-1 miRNA Diabetic neuropathy 0.33 - - - - - - NCRV0000002961 19197348 NONHSAT214210.1 rs2527866 C N/A 2,906 kosraen individuals EFO_0006335 N/A Associate Quantitative traits rs2527866-C of NONHSAT214210.1 is significantly associated with the quantitative traits by using GWAS analysis in 2,906 kosraen individuals(p-value = 3E-6 ;OR = 0.27). 0.4 Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae. genome-wide association analysis NONHSAT214210.1 lncRNA Systolic blood pressure 0.33 TCGTATTTAA(C > A)CTTTGAAGGT chr7: 157297602 0.5845,0.4155 0.63141086901121304,0.36858913098878695 Region score:0.25; TSS score:0.26; Unmatched score:0.16; Average GERP:-0.21110693069306924 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002962 21900946 NONHSAT210420.1 rs4713693 T N/A 1,119 japanese ancestry cases//2,718 japanese ancestry controls; 432 japanese ancestry cases//1,157 japanese ancestry controls EFO_0004237 N/A Associate Graves' disease rs4713693-T of NONHSAT210420.1 is significantly associated with the graves' disease by using GWAS analysis in 1,119 japanese ancestry cases//2,718 japanese ancestry controls; 432 japanese ancestry cases//1,157 japanese ancestry controls(p-value = 7E-13 ;OR = 1.4). 0.4 Identification of independent risk loci for Graves' disease within the MHC in the Japanese population. genome-wide association analysis NONHSAT210420.1 lncRNA Graves disease 0.33 GTCAAATTCC(T > C)GTCAAATTCA chr6: 33850152 0.6,0.4 0.56060461264016309,0.43939538735983690 Region score:0.32; TSS score:0.42; Unmatched score:0.15; Average GERP:-0.5648968085106384 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002963 21793975 miR-135a-1 hsa-mir-135a-1 Deletion - Dominant 48 medulloblastomas EFO_0002939 N/A Increasing risk Medulloblastomas Deletion of miR-135a-1 and its dysfunction is significantly associated with the increasing risk of medulloblastomas by using analysis of sequence variation in 48 medulloblastomas. 0.4 Genetic alterations in microRNAs in medulloblastomas. analysis of sequence variation; Function hsa-mir-135a-1 miRNA Medulloblastoma 0.33 N/A N/A N/A N/A N/A N/A NCRV0000002964 25811787 NONHSAT151853.1 rs10493773 G N/A up to 10,058 european ancestry male individuals//up to 7,189 european ancestry female individuals EFO_0004531 N/A Associate Urate levels in overweight individuals rs10493773-G of NONHSAT151853.1 is significantly associated with the urate levels in overweight individuals by using GWAS analysis in up to 10,058 european ancestry male individuals//up to 7,189 european ancestry female individuals(p-value = 9E-6 ;OR = 0.082). 0.4 Modulation of genetic associations with serum urate levels by body-mass-index in humans. genome-wide association analysis NONHSAT151853.1 lncRNA Urate measurement 0.33 AATGCTTCAC(A > G)TCTTTTAAAC chr1: 85660070 0.8071,0.1929 0.76882645259938837,0.23117354740061162 Region score:0.39; TSS score:0.41; Unmatched score:0.25; Average GERP:1.5549425742574252 GeneName:ZNHIT6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000117174; TranscriptID:ENST00000370574; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002965 25231870 NONHSAT129657.2 rs4875053 G N/A up to 182,413 european ancestry females EFO_0004703 N/A Associate Menarche (age at onset) rs4875053-G of NONHSAT129657.2 is significantly associated with the menarche (age at onset) by using GWAS analysis in up to 182,413 european ancestry females(p-value = 1E-8 ;OR = 0.03). 0.4 Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. genome-wide association analysis NONHSAT129657.2 lncRNA Age at menarche 0.33 AGGCCGGAGA(C > G)GATGTGGCTG chr8: 143790241 0.2646,0.7354 0.41433326962283384,0.58566673037716615 Region score:0.47; TSS score:0.43; Unmatched score:0.7; Average GERP:1.3855534653465356 GeneName:IQANK1; CADD-Score:7; Consquence:missense; GeneID:ENSG00000203499; TranscriptID:ENST00000527139; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SCRIB; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180900; TranscriptID:ENST00000356994; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002966 20676098 NONHSAT216393.1 rs1456315 ? N/A 1,583 japanese ancestry cases//3,386 japanese ancestry controls; 3,001 japanese ancestry cases//5,415 japanese ancestry controls EFO_0001663 N/A Associate Prostate cancer rs1456315-? of NONHSAT216393.1 is significantly associated with the prostate cancer by using GWAS analysis in 1,583 japanese ancestry cases//3,386 japanese ancestry controls; 3,001 japanese ancestry cases//5,415 japanese ancestry controls(p-value = 2E-29 ;OR = ?). 0.4 Genome-wide association study identifies five new susceptibility loci for prostate cancer in the Japanese population. genome-wide association analysis NONHSAT216393.1 lncRNA Prostate cancer 0.451 AATAAATCTA(T > A,C)ACAACTTATA chr8: 127091692 0.4968,.,0.5032 0.42850089194699286,0.00047782874617737,0.57102127930682976 Region score:0.27; TSS score:0.22; Unmatched score:0.07; Average GERP:0.33674950495049494 GeneName:AC020688.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000224722; TranscriptID:ENST00000519282; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CASC19; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000254166; TranscriptID:ENST00000642100; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PCAT1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000253438; TranscriptID:ENST00000646670; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PRNCR1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000282961; TranscriptID:ENST00000635449; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002966 23023329 NONHSAT216393.1 rs1456315 ? N/A 1,417 han chinese ancestry cases//1,008 han chinese ancestry controls; 3,067 han chinese ancestry cases//7,926 han chinese ancestry controls EFO_0001663 N/A Associate Prostate cancer rs1456315-? of NONHSAT216393.1 is significantly associated with the prostate cancer by using GWAS analysis in 1,417 han chinese ancestry cases//1,008 han chinese ancestry controls; 3,067 han chinese ancestry cases//7,926 han chinese ancestry controls(p-value = 1E-12 ;OR = ?). 0.4 Genome-wide association study in Chinese men identifies two new prostate cancer risk loci at 9q31.2 and 19q13.4. genome-wide association analysis NONHSAT216393.1 lncRNA Prostate cancer 0.451 AATAAATCTA(T > A,C)ACAACTTATA chr8: 127091692 0.4968,.,0.5032 0.42850089194699286,0.00047782874617737,0.57102127930682976 Region score:0.27; TSS score:0.22; Unmatched score:0.07; Average GERP:0.33674950495049494 GeneName:AC020688.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000224722; TranscriptID:ENST00000519282; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CASC19; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000254166; TranscriptID:ENST00000642100; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PCAT1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000253438; TranscriptID:ENST00000646670; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PRNCR1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000282961; TranscriptID:ENST00000635449; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002967 28928442 NONHSAT067101.2 rs601338 ? N/A 43,826 european ancestry cases//15,720 european ancestry controls EFO_0008417 N/A Associate Number of common colds rs601338-? of NONHSAT067101.2 is significantly associated with the number of common colds by using GWAS analysis in 43,826 european ancestry cases//15,720 european ancestry controls(p-value = 4E-7 ;OR = 0.0198). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. genome-wide association analysis NONHSAT067101.2 lncRNA Susceptibility to common cold measurement 0.33 CCCTGCTCCT(G > A)GACCTTCTAC chr19: 48703417 0.6783,0.3217 0.56130542813455657,0.43869457186544342 Region score:0.3; TSS score:0.27; Unmatched score:0.42; Average GERP:1.9995544554455458 GeneName:FUT2; CADD-Score:8; Consquence:stop_gained; GeneID:ENSG00000176920; TranscriptID:ENST00000425340; AnnoType:STOP_GAINED; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002968 27863252 NONHSAT026062.2 rs10466905 A N/A 171,643 european ancestry individuals EFO_0004587 N/A Associate Lymphocyte counts rs10466905-A of NONHSAT026062.2 is significantly associated with the lymphocyte counts by using GWAS analysis in 171,643 european ancestry individuals(p-value = 2E-55 ;OR = 0.07213908). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT026062.2 lncRNA Lymphocyte count 0.33 TTTTAACTTA(G > A)TCACCTCTTT chr12: 6393666 0.8299,0.1701 0.80079319571865443,0.19920680428134556 Region score:0.23; TSS score:0.09; Unmatched score:0.28; Average GERP:-0.08750792079207921 GeneName:AC005840.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000256433; TranscriptID:ENST00000541888; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LTBR; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000111321; TranscriptID:ENST00000228918; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000048298; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002969 19107115 NONHSAT164343.1 rs4238010 G N/A 1,359 european ancestry cases//1,782 european ancestry controls EFO_0003761 N/A Associate Major depressive disorder rs4238010-G of NONHSAT164343.1 is significantly associated with the major depressive disorder by using GWAS analysis in 1,359 european ancestry cases//1,782 european ancestry controls(p-value = 6E-6 ;OR = 1.72). 0.4 Genome-wide association study of recurrent major depressive disorder in two European case-control cohorts. genome-wide association analysis NONHSAT164343.1 lncRNA Unipolar depression 0.33 AAAATATTCA(G > A,C)TTAGCACATC chr12: 4009151 0.1458,0.8542,. 0.14555459989806320,0.83186002803261977,0.02258537206931702 Region score:0.36; TSS score:0.38; Unmatched score:0.17; Average GERP:-0.6202131683168315 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002970 26178671 let-7 rs7045890 G N/A 503 metabolic syndrome patients and 529 normal controls in a Chinese population EFO_0000195 N/A no significance for risk metabolic syndrome rs7045890-G of hsa-let-7a-1 and its dysfunction is not significantly associated with Metabolic syndrome by using case-control analysis in 503 metabolic syndrome patients and 529 normal controls in a Chinese population -0.4 Let-7 related genetic variation and risk of metabolic syndrome in a Chinese population. case-control analysis hsa-let-7a-1 miRNA Metabolic syndrome -0.33 GTTTCTGTTT(G > A)CTTTAATTCA chr9: 94177906 0.1078,0.8922 0.07373693934760448,0.92626306065239551 Region score:0.37; TSS score:0.11; Unmatched score:0.28; Average GERP:-0.9115930693069306 GeneName:AL158152.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000269929; TranscriptID:ENST00000602652; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LINC02603; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000230262; TranscriptID:ENST00000416309; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIRLET7A1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000199165; TranscriptID:ENST00000362295; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIRLET7A1HG; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000269946; TranscriptID:ENST00000602703; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIRLET7D; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000199133; TranscriptID:ENST00000362263; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIRLET7F1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000199072; TranscriptID:ENST00000362202; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002971 20453842 NONHSAT155025.1 rs4750316 G N/A 5,539 european ancestry cases//20,169 european ancestry controls; 6,768 european ancestry cases//8,806 european ancestry controls EFO_0000685 N/A Associate Rheumatoid arthritis rs4750316-G of NONHSAT155025.1 is significantly associated with the rheumatoid arthritis by using GWAS analysis in 5,539 european ancestry cases//20,169 european ancestry controls; 6,768 european ancestry cases//8,806 european ancestry controls(p-value = 2E-6 ;OR = 1.15). 0.4 Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci. genome-wide association analysis NONHSAT155025.1 lncRNA Rheumatoid arthritis 0.451 GAGAGAATTA(C > G,T)AGTACCACCA chr10: 6351298 0.2167,0.7833,. 0.21458492609582059,0.76196961009174311,0.02344546381243628 Region score:0.33; TSS score:0.59; Unmatched score:0.54; Average GERP:-0.049746534653465346 GeneName:AL137145.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000212743; TranscriptID:ENST00000391437; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002971 18794853 NONHSAT155025.1 rs4750316 G N/A 3,393 european ancestry cases//12,460 european ancestry controls; 3,929 european ancestry cases//5,807 european ancestry controls EFO_0000685 N/A Associate Rheumatoid arthritis rs4750316-G of NONHSAT155025.1 is significantly associated with the rheumatoid arthritis by using GWAS analysis in 3,393 european ancestry cases//12,460 european ancestry controls; 3,929 european ancestry cases//5,807 european ancestry controls(p-value = 4E-6 ;OR = 1.14). 0.4 Common variants at CD40 and other loci confer risk of rheumatoid arthritis. genome-wide association analysis NONHSAT155025.1 lncRNA Rheumatoid arthritis 0.451 GAGAGAATTA(C > G,T)AGTACCACCA chr10: 6351298 0.2167,0.7833,. 0.21458492609582059,0.76196961009174311,0.02344546381243628 Region score:0.33; TSS score:0.59; Unmatched score:0.54; Average GERP:-0.049746534653465346 GeneName:AL137145.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000212743; TranscriptID:ENST00000391437; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002972 22494929 NONHSAT143860.2 rs3813582 T N/A 3,736 european ancestry individuals; 3,727 european ancestry individuals EFO_1000627 N/A Associate Thyroid function rs3813582-T of NONHSAT143860.2 is significantly associated with the thyroid function by using GWAS analysis in 3,736 european ancestry individuals; 3,727 european ancestry individuals(p-value = 6E-10 ;OR = 0.068). 0.4 Meta-analysis of two genome-wide association studies identifies four genetic loci associated with thyroid function. genome-wide association analysis NONHSAT143860.2 lncRNA Thyroid disease 0.451 ACCTGGGTAC(T > C)TGACTTGACT chr16: 79715456 0.7614,0.2386 0.71127198012232415,0.28872801987767584 Region score:0.29; TSS score:0.33; Unmatched score:0.19; Average GERP:0.860459405940594 GeneName:LINC01229; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000260876; TranscriptID:ENST00000561510; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MAFTRR; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000261390; TranscriptID:ENST00000562921; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000543174; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002972 23408906 NONHSAT143860.2 rs3813582 T N/A up to 14,459 european ancestry females//up to 10,936 european ancestry males//up to 433 old order amish females//up to 592 old order amish males EFO_1000627 N/A Associate Thyroid hormone levels rs3813582-T of NONHSAT143860.2 is significantly associated with the thyroid hormone levels by using GWAS analysis in up to 14,459 european ancestry females//up to 10,936 european ancestry males//up to 433 old order amish females//up to 592 old order amish males(p-value = 6E-17 ;OR = 0.115). 0.4 A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function. genome-wide association analysis NONHSAT143860.2 lncRNA Thyroid disease 0.451 ACCTGGGTAC(T > C)TGACTTGACT chr16: 79715456 0.7614,0.2386 0.71127198012232415,0.28872801987767584 Region score:0.29; TSS score:0.33; Unmatched score:0.19; Average GERP:0.860459405940594 GeneName:LINC01229; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000260876; TranscriptID:ENST00000561510; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MAFTRR; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000261390; TranscriptID:ENST00000562921; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000543174; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002973 23041239 NONHSAT198931.1 rs6843082 G N/A 12,389 european ancestry cases//62,004 european ancestry controls; 1,322 pakistani ancestry cases//1,143 pakistani ancestry controls//12,025 european ancestry cases//27,940 european ancestry controls EFO_0000712 N/A Associate Stroke (ischemic) rs6843082-G of NONHSAT198931.1 is significantly associated with the stroke (ischemic) by using GWAS analysis in 12,389 european ancestry cases//62,004 european ancestry controls; 1,322 pakistani ancestry cases//1,143 pakistani ancestry controls//12,025 european ancestry cases//27,940 european ancestry controls(p-value = 2E-7 ;OR = 1.11). 0.4 Genetic risk factors for ischaemic stroke and its subtypes (the METASTROKE collaboration): a meta-analysis of genome-wide association studies. genome-wide association analysis NONHSAT198931.1 lncRNA Stroke 0.33 CATAACAGCC(G > A)TTTCAGCTCT chr4: 110796911 0.4,0.6 0.30569094036697247,0.69430905963302752 Region score:0.58; TSS score:0.62; Unmatched score:0.69; Average GERP:2.7066079207920812 GeneName:LINC01438; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000249519; TranscriptID:ENST00000512794; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002974 26460308 NONHSAT207886.1 rs7765004 C N/A 852 european ancestry cases; 685 european ancestry cases EFO_0000403 treated with immunochemotherapy Associate Event free survival in diffuse large b-cell lymphoma treated with immunochemotherapy rs7765004-C of NONHSAT207886.1 is significantly associated with the event free survival in diffuse large b-cell lymphoma treated with immunochemotherapy by using GWAS analysis in 852 european ancestry cases; 685 european ancestry cases(p-value = 7E-7 ;OR = 1.38). 0.4 Genome-Wide Association Study of Event-Free Survival in Diffuse Large B-Cell Lymphoma Treated With Immunochemotherapy. genome-wide association analysis NONHSAT207886.1 lncRNA Diffuse large b-cell lymphoma 0.33 CACCAAGACT(A > C)TGACTTTGGA chr6: 113750518 0.6755,0.3245 0.66910359327217125,0.33089640672782874 Region score:0.31; TSS score:0.1; Unmatched score:0.04; Average GERP:0.30117227722772283 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000802385; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002975 27863252 NONHSAT208858.1 rs6917586 A N/A 170,702 european ancestry individuals EFO_0004833 N/A Associate Neutrophil count rs6917586-A of NONHSAT208858.1 is significantly associated with the neutrophil count by using GWAS analysis in 170,702 european ancestry individuals(p-value = 3E-11 ;OR = 0.02485541). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT208858.1 lncRNA Neutrophil count 0.33 AGCACGCAAC(G > A)TTTATTACCA chr6: 21381296 0.5769,0.4231 0.63512996941896024,0.36487003058103975 Region score:0.3; TSS score:0.22; Unmatched score:0.11; Average GERP:-0.6859223762376232 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002976 27741504 miR-196a2 rs11614913 C Dominant 218 endometriosis patients and 202 healthy women age-matched controls EFO_0001065 N/A increasing risk endometriosis rs11614913-C of hsa-mir-196a-2 and its dysfunction is significantly associated with the increasing risk of Endometriosis by using case-control analysis in 218 endometriosis patients and 202 healthy women age-matched controls 0.4 Up-regulation of ribosome biogenesis by MIR196A2 genetic variation promotes endometriosis development and progression. case-control analysis hsa-mir-196a-2 miRNA Endometriosis 0.33 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002977 26324025 SIRT1-AS chr10:69677472 C Dominant 52 patients (26 male and 26 female; average age 49.2隆脌18.3 years) EFO_0000182 N/A Decreasing risk Hepatocellular carcinoma chr10:69677472-C of SIRT1-AS and its dysfunction is significantly associated with the decreasing risk of hepatocellular carcinoma by using analysis of sequence variation in 52 patients (26 male and 26 female; average age 49.2隆脌18.3 years) . By using the disease cell lines or tissues, the interference and mutation of SIRT1-AS has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 A novel mutation in SIRT1-AS leading to a decreased risk of HCC. analysis of sequence variation; Function SIRT1-AS lncRNA Hepatocellular cancer 0.593 N/A N/A N/A N/A N/A N/A NCRV0000002978 23796562 miR-608 rs4919510 G Dominant 1665 patients EFO_1000058 N/A poor prognosis nasopharyngeal squamous cell carcinoma rs4919510-G of hsa-mir-608 and its dysfunction is significantly associated with the poor prognosis of Nasopharyngeal squamous cell carcinoma by using analysis of sequence variation in 1665 patients 2 A sequence polymorphism in miR-608 predicts recurrence after radiotherapy for nasopharyngeal carcinoma. analysis of sequence variation hsa-mir-608 miRNA Nasopharyngeal squamous cell carcinoma 0.865 TGGGACAGCT(C > G)CGTTTAAAAA chr10: 100975021 0.6362,0.3638 0.70305332568807339,0.29694667431192660 Region score:0.54; TSS score:0.1; Unmatched score:0.51; Average GERP:-0.18896138613861369 GeneName:MIR608; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207551; TranscriptID:ENST00000384820; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MRPL43; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000055950; TranscriptID:ENST00000318325; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SEMA4G; CADD-Score:2; Consquence:intron; GeneID:ENSG00000095539; TranscriptID:ENST00000210633; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002979 26634245 NONHSAT047580.2 rs7170068 A N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs7170068-A of NONHSAT047580.2 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 9E-10 ;OR = 0.068). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT047580.2 lncRNA Pulmonary function measurement 0.33 CCCCGGCGAC(G > A,C)GCGCCAGCCC chr15: 78620601 0.6352,0.3648,. 0.73870731396534148,0.26126083078491335,0.00003185524974515 Region score:0.24; TSS score:0.59; Unmatched score:0.93; Average GERP:-0.7579326732673267 GeneName:CHRNA3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000080644; TranscriptID:ENST00000326828; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CHRNB4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000117971; TranscriptID:ENST00000261751; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000522530; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002980 28090653 NONHSAT071691.2 rs146058206 A N/A up to 488 european ancestry cases//up to 111 african american cases//up to 60 hispanic cases//up to 56 other ancestry cases EFO_0000220 N/A Associate Alanine aminotransferase (alt) levels after remission induction therapy in actute lymphoblastic leukemia (all) rs146058206-A of NONHSAT071691.2 is significantly associated with the alanine aminotransferase (alt) levels after remission induction therapy in actute lymphoblastic leukemia (all) by using GWAS analysis in up to 488 european ancestry cases//up to 111 african american cases//up to 60 hispanic cases//up to 56 other ancestry cases(p-value = 2E-6 ;OR = 9.02). 0.4 Genome-Wide Study Links PNPLA3 Variant With Elevated Hepatic Transaminase After Acute Lymphoblastic Leukemia Therapy. genome-wide association analysis NONHSAT071691.2 lncRNA Acute lymphoblastic leukemia 0.33 CCTGAGGAAA(G > A)GGATGCTGTT chr2: 74395262 0.9974,0.002596 0.99809664882772680,0.00190335117227319 Region score:0.38; TSS score:0.22; Unmatched score:0.11; Average GERP:0.05700990099009908 GeneName:AC005041.1; CADD-Score:2; Consquence:NMD,3_prime_UTR; GeneID:ENSG00000159239; TranscriptID:ENST00000517883; AnnoType:3PRIME_UTR; mirSVR-Score:NA; mirSVR-E:NA | GeneName:DCTN1-AS1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000237737; TranscriptID:ENST00000437991; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:DCTN1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000204843; TranscriptID:ENST00000409240; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002981 23111177 CDKN2B-AS1 rs2157719 G Dominant 976 POAG cases from the Glaucoma Genes and Environment (GLAUGEN) study and 1971 cases from the National Eye Institute Glaucoma Human Genetics Collaboration (NEIGHBOR) consortium EFO_0004190 N/A decreasing risk open-angle glaucoma rs2157719-G of CDKN2B-AS1 and its dysfunction is significantly associated with the decreasing risk of Open-angle glaucoma by using case-control analysis in 976 POAG cases from the Glaucoma Genes and Environment (GLAUGEN) study and 1971 cases from the National Eye Institute Glaucoma Human Genetics Collaboration (NEIGHBOR) consortium 0.4 CDKN2B-AS1 genotype-glaucoma feature correlations in primary open-angle glaucoma patients from the United States. case-control analysis CDKN2B-AS1 lncRNA Open-angle glaucoma 0.33 GGAGTACATA(C > T)GGACGAATTT chr9: 22033367 0.1875,0.8125 0.27122356014271151,0.72877643985728848 Region score:0.32; TSS score:0.38; Unmatched score:0.25; Average GERP:-0.27821425742574246 GeneName:AL359922.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000264545; TranscriptID:ENST00000404796; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CDKN2B-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000240498; TranscriptID:ENST00000428597; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000877579; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002982 23903356 NONHSAT215396.1 rs4841132 G N/A 1,367 european ancestry individuals//817 hispanic individuals//1,075 afro-caribbean individuals//1,178 thai ancestry individuals; 2,798 european ancestry individuals//228 french canadian founder population individuals EFO_0005187 N/A Associate Glycemic traits (pregnancy) rs4841132-G of NONHSAT215396.1 is significantly associated with the glycemic traits (pregnancy) by using GWAS analysis in 1,367 european ancestry individuals//817 hispanic individuals//1,075 afro-caribbean individuals//1,178 thai ancestry individuals; 2,798 european ancestry individuals//228 french canadian founder population individuals(p-value = 5E-15 ;OR = 0.0294). 0.4 Identification of HKDC1 and BACE2 as genes influencing glycemic traits during pregnancy through genome-wide association studies. genome-wide association analysis NONHSAT215396.1 lncRNA C-peptide measurement 0.33 CCAGGGCAGC(A > G)TCCAGCTGGT chr8: 9326086 0.09325,0.9067 0.09840086646279306,0.90159913353720693 Region score:0.46; TSS score:0.24; Unmatched score:0.62; Average GERP:-1.1010772277227727 GeneName:AC022784.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000248538; TranscriptID:ENST00000520390; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0795; mirSVR-E:-25.94 | NCRV0000002983 27989323 NONHSAT130003.2 rs34881325 C N/A 7,118 finnish ancestry individuals EFO_0004762 N/A Associate Vascular endothelial growth factor levels rs34881325-C of NONHSAT130003.2 is significantly associated with the vascular endothelial growth factor levels by using GWAS analysis in 7,118 finnish ancestry individuals(p-value = 3E-10 ;OR = 0.118). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. genome-wide association analysis NONHSAT130003.2 lncRNA Vascular endothelial growth factor measurement 0.33 GGTAACTTGT(C > T)GTGCGGAGCG chr9: 2622134 0.6901,0.3099 0.68785837155963302,0.31214162844036697 Region score:0.49; TSS score:0.56; Unmatched score:0.98; Average GERP:2.3449000000000018 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000874061; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000874064; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:VLDLR-AS1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000236404; TranscriptID:ENST00000648733; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:VLDLR; CADD-Score:3; Consquence:5_prime_UTR; GeneID:ENSG00000147852; TranscriptID:ENST00000382100; AnnoType:5PRIME_UTR; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002984 28333195 NONHSAT001478.2 rs55938609 ? N/A 3,194 european ancestry cases//7,060 european ancestry controls. EFO_0001065 N/A Associate Endometriosis rs55938609-? of NONHSAT001478.2 is significantly associated with the endometriosis by using GWAS analysis in 3,194 european ancestry cases//7,060 european ancestry controls.(p-value = 6E-7 ;OR = 1.24). 0.4 Genome-wide genetic analyses highlight mitogen-activated protein kinase (MAPK) signaling in the pathogenesis of endometriosis. genome-wide association analysis NONHSAT001478.2 lncRNA Endometriosis 0.33 AGCTCTCTTG(G > C)CTCACTCACC chr1: 22143958 0.7969,0.2031 0.85537716615698267,0.14462283384301732 Region score:0.55; TSS score:0.55; Unmatched score:0.93; Average GERP:-0.6121558415841586 GeneName:AL445253.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000285873; TranscriptID:ENST00000648968; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000002875; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000350213; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:WNT4; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000162552; TranscriptID:ENST00000290167; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002985 28181414 miR-146a rs57095329 C N/A 176 AR patients and 206 healthy Chinese children as controls EFO_0005854 N/A no significance for risk allergic rhinitis rs57095329-C of hsa-mir-146a and its dysfunction is not significantly associated with Allergic rhinitis by using case-control analysis in 176 AR patients and 206 healthy Chinese children as controls -0.4 A functional variant of miRNA-149 confers risk for allergic rhinitis and comorbid asthma in Chinese children. case-control analysis hsa-mir-146a miRNA Allergic rhinitis -0.33 GAGAGTACAG(A > G)CAGGAAGCCT chr5: 160467840 0.8572,0.1428 0.91701707441386340,0.08298292558613659 Region score:0.55; TSS score:0.62; Unmatched score:0.87; Average GERP:3.053772277227722 GeneName:MIR3142HG; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775866; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002986 27863252 NONHSAT004978.2 rs828999 A N/A 170,494 european ancestry individuals EFO_0007989 N/A Associate Monocyte percentage of white cells rs828999-A of NONHSAT004978.2 is significantly associated with the monocyte percentage of white cells by using GWAS analysis in 170,494 european ancestry individuals(p-value = 6E-9 ;OR = 0.02076806). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT004978.2 lncRNA Monocypte percentage of leukocytes 0.33 TCTGACTTAA(G > A)CATGAGTAAA chr1: 108202312 0.4169,0.5831 0.44911123853211009,0.55088876146788990 Region score:0.34; TSS score:0.4; Unmatched score:0.47; Average GERP:0.24646138613861387 GeneName:AL359258.2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000260879; TranscriptID:ENST00000564063; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AL359258.3; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000280186; TranscriptID:ENST00000622910; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SLC25A24; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000085491; TranscriptID:ENST00000565488; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002987 23251661 NONHSAT068442.2 rs58632700 A N/A 815 hispanic children from 263 families EFO_0004730 N/A Associate Obesity-related traits rs58632700-A of NONHSAT068442.2 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 1E-7 ;OR = 0.05). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. genome-wide association analysis NONHSAT068442.2 lncRNA Hormone measurement 0.33 CACAGGCCAG(C > T)GGCGTCACTT chr19: 58480634 0.9976,0.002396 0.99901248725790010,0.00098751274209989 Region score:0.2; TSS score:0.21; Unmatched score:0.48; Average GERP:2.2183267326732645 GeneName:AC012313.7; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000269106; TranscriptID:ENST00000598051; AnnoType:UPSTREAM; mirSVR-Score:-0.5996; mirSVR-E:-22.64 | GeneName:RNU6-1337P; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000252334; TranscriptID:ENST00000516525; AnnoType:DOWNSTREAM; mirSVR-Score:-0.5996; mirSVR-E:-22.64 | GeneName:SLC27A5; CADD-Score:2; Consquence:NMD,3_prime_UTR; GeneID:ENSG00000083807; TranscriptID:ENST00000595851; AnnoType:3PRIME_UTR; mirSVR-Score:-0.5996; mirSVR-E:-22.64 | GeneName:ZNF446; CADD-Score:7; Consquence:missense; GeneID:ENSG00000083838; TranscriptID:ENST00000594369; AnnoType:NON_SYNONYMOUS; mirSVR-Score:-0.5996; mirSVR-E:-22.64 | NCRV0000002988 28928442 NONHSAT205713.1 rs62366894 ? N/A 46,936 european ancestry cases//74,874 european ancestry controls EFO_0007904 N/A Associate Childhood ear infection rs62366894-? of NONHSAT205713.1 is significantly associated with the childhood ear infection by using GWAS analysis in 46,936 european ancestry cases//74,874 european ancestry controls(p-value = 3E-7 ;OR = 0.0588). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. genome-wide association analysis NONHSAT205713.1 lncRNA Susceptibility to childhood ear infection measurement 0.451 AAGAAAGCAC(C > T)GCATGTTCCC chr5: 51336157 0.8874,0.1126 0.86416125127420998,0.13583874872579001 Region score:0.25; TSS score:0.14; Unmatched score:0.07; Average GERP:0.21063564356435643 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002988 27182965 NONHSAT205713.1 rs62366894 ? N/A 46,936 european ancestry cases//74,874 european ancestry controls EFO_0007904 N/A Associate Childhood ear infection rs62366894-? of NONHSAT205713.1 is significantly associated with the childhood ear infection by using GWAS analysis in 46,936 european ancestry cases//74,874 european ancestry controls(p-value = 3E-7 ;OR = 1.0604454). 0.4 Detection and interpretation of shared genetic influences on 42 human traits. genome-wide association analysis NONHSAT205713.1 lncRNA Susceptibility to childhood ear infection measurement 0.451 AAGAAAGCAC(C > T)GCATGTTCCC chr5: 51336157 0.8874,0.1126 0.86416125127420998,0.13583874872579001 Region score:0.25; TSS score:0.14; Unmatched score:0.07; Average GERP:0.21063564356435643 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002989 26625972 let-7 rs629367 C N/a 761 patients with surgically resected non-small cell lung cancer EFO_0003060 N/A No significance for risk Non-small cell lung cancer rs629367-C of let-7 and its dysfunction is not significantly associated with non-small cell lung cancer by using analysis of sequence variation in 761 patients with surgically resected non-small cell lung cancer. -0.4 The pri-let-7a-2 rs1143770C>T is associated with prognosis of surgically resected non-small cell lung cancer. analysis of sequence variation hsa-let-7a-1 miRNA Non-small cell lung cancer -0.33 ACAATGGACA(C > A)CTGATATACT chr11: 122146306 0.1486,0.8514 0.12741303516819571,0.87258696483180428 Region score:0.41; TSS score:0.3; Unmatched score:0.29; Average GERP:0.0035059999999999957 GeneName:MIR100HG; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000255248; TranscriptID:ENST00000534782; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIRLET7A2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000198975; TranscriptID:ENST00000362105; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000444950; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002990 21460842 NONHSAT017198.2 rs2280543 G N/A 1,607 japanese ancestry cases//1,428 japanese ancestry controls; 3,439 japanese ancestry cases//3,244 japanese ancestry controls EFO_0000731 N/A Associate Uterine fibroids rs2280543-G of NONHSAT017198.2 is significantly associated with the uterine fibroids by using GWAS analysis in 1,607 japanese ancestry cases//1,428 japanese ancestry controls; 3,439 japanese ancestry cases//3,244 japanese ancestry controls(p-value = 4E-12 ;OR = 1.39). 0.4 A genome-wide association study identifies three loci associated with susceptibility to uterine fibroids. genome-wide association analysis NONHSAT017198.2 lncRNA Uterine fibroid 0.33 GATGAGTCAA(C > T)CTTGCTGGGT chr11: 203788 0.9191,0.08087 0.94848209734964322,0.05151790265035677 Region score:0.36; TSS score:0.28; Unmatched score:0.55; Average GERP:-2.2230401980198016 GeneName:AC069287.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000254559; TranscriptID:ENST00000526963; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.2008; mirSVR-E:-13.22 | GeneName:BET1L; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000177951; TranscriptID:ENST00000382762; AnnoType:3PRIME_UTR; mirSVR-Score:-0.2008; mirSVR-E:-13.22 | GeneName:ODF3; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000177947; TranscriptID:ENST00000325113; AnnoType:DOWNSTREAM; mirSVR-Score:-0.2008; mirSVR-E:-13.22 | GeneName:RIC8A; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000177963; TranscriptID:ENST00000325207; AnnoType:UPSTREAM; mirSVR-Score:-0.2008; mirSVR-E:-13.22 | NCRV0000002991 26077004 let-7 rs61764370 G N/A 311 non-small cell lung cancer samples EFO_0003060 N/A no significance for risk non-small cell lung carcinoma rs61764370-G of hsa-let-7a-1 and its dysfunction is not significantly associated with Non-small cell lung carcinoma by using analysis of sequence variation in 311 non-small cell lung cancer samples -0.4 Comparison of the prevalence of KRAS-LCS6 polymorphism (rs61764370) within different tumour types (colorectal, breast, non-small cell lung cancer and brain tumours). A study of the Czech population. analysis of sequence variation hsa-let-7a-1 miRNA Non-small cell lung carcinoma -0.33 AAGGTGGGTG(A > C)ATCACTTGAG chr12: 25207290 0.9653,0.03474 0.93713366462793068,0.06286633537206931 Region score:0.55; TSS score:0.62; Unmatched score:0.6; Average GERP:0.16988118811881203 GeneName:AC092794.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000274987; TranscriptID:ENST00000612734; AnnoType:UPSTREAM; mirSVR-Score:-0.0434; mirSVR-E:-18.44 | GeneName:ETFRF1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000205707; TranscriptID:ENST00000381356; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0434; mirSVR-E:-18.44 | GeneName:KRAS; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000133703; TranscriptID:ENST00000256078; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0434; mirSVR-E:-18.44 | NCRV0000002992 23358156 NONHSAT216221.1 rs2981205 T N/A 12,441 european ancestry children; 5,548 european ancestry children EFO_0004337 N/A Associate Intelligence (childhood) rs2981205-T of NONHSAT216221.1 is significantly associated with the intelligence (childhood) by using GWAS analysis in 12,441 european ancestry children; 5,548 european ancestry children(p-value = 5E-6 ;OR = 0.06). 0.4 Childhood intelligence is heritable, highly polygenic and associated with FNBP1L. genome-wide association analysis NONHSAT216221.1 lncRNA Intelligence 0.33 ATCTGCCTGA(C > T)CTCAGGTGGG chr8: 106832219 0.8464,0.1536 0.81750127420998980,0.18249872579001019 Region score:0.35; TSS score:0.34; Unmatched score:0.13; Average GERP:-0.6263900990099008 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000865321; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002993 28177126 SNORD118 chr17:8076789 G Dominant 8 unrelated families with lcc Orphanet_313838 N/A Increasing risk Leukoencephalopathy with brain calcifications and cysts chr17:8076789-G of SNORD118 and its dysfunction is significantly associated with the increasing risk of Leukoencephalopathy with brain calcifications and cysts by using Pedigree analysis in 8 unrelated families with LCC. 0.4 Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts. Pedigree analysis SNORD118 snoRNA Coats plus syndrome 0.33 N/A N/A N/A N/A N/A N/A NCRV0000002994 23555923 hsa-mir-1206 rs2114358 C N/a 191 patients with tnbc and 192 healthy female controls EFO_0005537 N/A No significance for risk Triple-negative breast cancer rs2114358-C of hsa-mir-1206 and its dysfunction is not significantly associated with Triple-negative breast cancer by using case-control analysis in 191 patients with TNBC and 192 healthy female controls. -0.4 There is no association between microRNA gene polymorphisms and risk of triple negative breast cancer in a Chinese Han population. case-control analysis hsa-mir-1206 miRNA Triple-negative breast cancer -0.33 CTTGCAGTAG(G > A,C)TTTTTGCAAG chr8: 128008933 0.3285,0.6715,. 0.34152013251783893,0.65599515800203873,0.00248470948012232 Region score:0.22; TSS score:0.05; Unmatched score:0.14; Average GERP:-0.28456732673267326 GeneName:AC103705.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000278275; TranscriptID:ENST00000619013; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR1206; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000283200; TranscriptID:ENST00000637127; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000869494; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PVT1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000249859; TranscriptID:ENST00000513868; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RNU4-25P; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000222501; TranscriptID:ENST00000410569; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002995 27117709 NONHSAT159884.1 rs11820646 ? N/A 4,939 european ancestry estrogen receptor-negative cases//14,352 european ancestry controls; 7,333 european ancestry estrogen receptor-negative cases//7,797 european ancestry brca1 mutation carrier cases//7,455 european ancestry brca1 mutation carrier controls//42,468 european ancestry controls EFO_0000305 N/A Associate Breast cancer rs11820646-? of NONHSAT159884.1 is significantly associated with the breast cancer by using GWAS analysis in 4,939 european ancestry estrogen receptor-negative cases//14,352 european ancestry controls; 7,333 european ancestry estrogen receptor-negative cases//7,797 european ancestry brca1 mutation carrier cases//7,455 european ancestry brca1 mutation carrier controls//42,468 european ancestry controls(p-value = 9E-6 ;OR = 1.0752687). 0.4 Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer. genome-wide association analysis NONHSAT159884.1 lncRNA Breast cancer 0.565 TCAAAAGACA(T > C,G)GCATTCAAAT chr11: 129591276 0.3626,0.6374,. 0.35193679918450560,0.64803134556574923,0.00003185524974515 Region score:0.29; TSS score:0.2; Unmatched score:0.2; Average GERP:0.530559405940594 GeneName:AP003500.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000281386; TranscriptID:ENST00000626400; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000446519; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002995 23535729 NONHSAT159884.1 rs11820646 C N/A 10,052 european ancestry cases//12,575 european ancestry controls; 45,290 european ancestry cases//41,880 european ancestry controls EFO_0000305 N/A Associate Breast cancer rs11820646-C of NONHSAT159884.1 is significantly associated with the breast cancer by using GWAS analysis in 10,052 european ancestry cases//12,575 european ancestry controls; 45,290 european ancestry cases//41,880 european ancestry controls(p-value = 1E-9 ;OR = 1.05). 0.4 Large-scale genotyping identifies 41 new loci associated with breast cancer risk. genome-wide association analysis NONHSAT159884.1 lncRNA Breast cancer 0.565 TCAAAAGACA(T > C,G)GCATTCAAAT chr11: 129591276 0.3626,0.6374,. 0.35193679918450560,0.64803134556574923,0.00003185524974515 Region score:0.29; TSS score:0.2; Unmatched score:0.2; Average GERP:0.530559405940594 GeneName:AP003500.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000281386; TranscriptID:ENST00000626400; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000446519; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002995 29059683 NONHSAT159884.1 rs11820646 C N/A 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls EFO_0000305 N/A Associate Breast cancer rs11820646-C of NONHSAT159884.1 is significantly associated with the breast cancer by using GWAS analysis in 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls(p-value = 2E-14 ;OR = 1.0416667). 0.4 Association analysis identifies 65 new breast cancer risk loci. genome-wide association analysis NONHSAT159884.1 lncRNA Breast cancer 0.565 TCAAAAGACA(T > C,G)GCATTCAAAT chr11: 129591276 0.3626,0.6374,. 0.35193679918450560,0.64803134556574923,0.00003185524974515 Region score:0.29; TSS score:0.2; Unmatched score:0.2; Average GERP:0.530559405940594 GeneName:AP003500.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000281386; TranscriptID:ENST00000626400; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000446519; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002995 25751625 NONHSAT159884.1 rs11820646 C N/A 15,748 european ancestry cases//18,084 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls EFO_0000305 N/A Associate Breast cancer rs11820646-C of NONHSAT159884.1 is significantly associated with the breast cancer by using GWAS analysis in 15,748 european ancestry cases//18,084 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls(p-value = 1E-10 ;OR = 1.0526316). 0.4 Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer. genome-wide association analysis NONHSAT159884.1 lncRNA Breast cancer 0.565 TCAAAAGACA(T > C,G)GCATTCAAAT chr11: 129591276 0.3626,0.6374,. 0.35193679918450560,0.64803134556574923,0.00003185524974515 Region score:0.29; TSS score:0.2; Unmatched score:0.2; Average GERP:0.530559405940594 GeneName:AP003500.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000281386; TranscriptID:ENST00000626400; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000446519; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002996 25209759 miR-146a rs2910164 G Dominant 521 Han Chinese patients with psoriasis and 582 healthy controls EFO_0000676 N/A increasing risk psoriasis rs2910164-G of hsa-mir-146a and its dysfunction is significantly associated with the increasing risk of Psoriasis by using case-control analysis in 521 Han Chinese patients with psoriasis and 582 healthy controls 0.9 A single-nucleotide polymorphism of miR-146a and psoriasis: an association and functional study. case-control analysis hsa-mir-146a miRNA Psoriasis 0.393 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 0 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002996 31211819 miR-146a rs2910164 ? N/A women with psoriasis (n = 241) and healthy controls (n = 516) EFO_0000676 N/A no significance for risk psoriasis rs2910164-? of hsa-mir-146a and its dysfunction is not significantly associated with Psoriasis by using two-stage association study in women with psoriasis (n = 241) and healthy controls (n = 516) -0.4 MiR-21 binding site SNP within ITGAM associated with psoriasis susceptibility in women. two-stage association study hsa-mir-146a miRNA Psoriasis 0.393 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 0 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002997 27989323 NONHSAT205427.1 rs17317275 G N/A 3,634 finnish ancestry individuals EFO_0005140 N/A Associate Interleukin-9 levels rs17317275-G of NONHSAT205427.1 is significantly associated with the interleukin-9 levels by using GWAS analysis in 3,634 finnish ancestry individuals(p-value = 8E-6 ;OR = 0.4062). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. genome-wide association analysis NONHSAT205427.1 lncRNA Autoimmune disease 0.33 TGCTTGGGGT(A > G)AACTTCAGCT chr5: 20968388 0.9772,0.02276 0.97062149592252803,0.02937850407747196 Region score:0.4; TSS score:0.23; Unmatched score:0.03; Average GERP:-0.49483960396039595 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000002998 27863252 NONHSAT198706.1 rs16850073 T N/A 172,435 european ancestry individuals EFO_0004308 N/A Associate White blood cell count rs16850073-T of NONHSAT198706.1 is significantly associated with the white blood cell count by using GWAS analysis in 172,435 european ancestry individuals(p-value = 3E-34 ;OR = 0.04534241). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT198706.1 lncRNA Leukocyte count 0.33 TGGTTTTAGA(C > T)GTTTGATGTC chr4: 73838282 0.7562,0.2438 0.70997387869520897,0.29002612130479102 Region score:0.41; TSS score:0.67; Unmatched score:0.76; Average GERP:1.8884217821782174 GeneName:CXCL6; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000124875; TranscriptID:ENST00000226317; AnnoType:3PRIME_UTR; mirSVR-Score:-0.9039; mirSVR-E:-14.05 | NCRV0000002999 27723757 NONHSAT023550.2 rs1126809 G N/A 2,853 european ancestry cases and 37,405 european ancestry controls; 1,827 european ancestry cases and 2,181 european ancestry controls EFO_0004208 N/A Associate Vitiligo rs1126809-G of NONHSAT023550.2 is significantly associated with the vitiligo by using GWAS analysis in 2,853 european ancestry cases and 37,405 european ancestry controls; 1,827 european ancestry cases and 2,181 european ancestry controls(p-value = 1E-43 ;OR = 1.497006). 0.4 Genome-wide association studies of autoimmune vitiligo identify 23 new risk loci and highlight key pathways and regulatory variants. genome-wide association analysis NONHSAT023550.2 lncRNA Vitiligo 0.33 CAGTGGCTCC(G > A)AAGGCACCGT chr11: 89284793 0.9187,0.08127 0.82370508409785932,0.17629491590214067 Region score:0.27; TSS score:0.31; Unmatched score:0.54; Average GERP:2.4450792079207937 GeneName:TYR; CADD-Score:7; Consquence:missense; GeneID:ENSG00000077498; TranscriptID:ENST00000263321; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003000 26634245 NONHSAT129674.2 rs7016416 T N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs7016416-T of NONHSAT129674.2 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 5E-6 ;OR = 0.044). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT129674.2 lncRNA Pulmonary function measurement 0.33 GTGCCCGCCG(C > G,T)GCCGCCTCTT chr8: 143923488 0.7698,.,0.2302 0.71268157492354740,0.00310588685015290,0.28421253822629969 Region score:0.26; TSS score:0.29; Unmatched score:0.5; Average GERP:2.4623732673267313 GeneName:PLEC; CADD-Score:5; Consquence:synonymous; GeneID:ENSG00000178209; TranscriptID:ENST00000322810; AnnoType:SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003001 27126917 NONHSAT206680.1 rs853410 G N/A 941 european ancestry individuals EFO_0008568 N/A Associate Night sleep phenotypes rs853410-G of NONHSAT206680.1 is significantly associated with the night sleep phenotypes by using GWAS analysis in 941 european ancestry individuals(p-value = 9E-6 ;OR = 0.3658). 0.4 Genome-wide association analysis of actigraphic sleep phenotypes in the LIFE Adult Study. genome-wide association analysis NONHSAT206680.1 lncRNA Sleep disorder 0.33 N/A N/A N/A N/A N/A N/A NCRV0000003002 28077804 NONHSAT163152.1 rs10870468 ? N/A 31,478 european ancestry older adults; 2,588 european ancestry older adults EFO_0007680 N/A Associate Gait speed in old age rs10870468-? of NONHSAT163152.1 is significantly associated with the gait speed in old age by using GWAS analysis in 31,478 european ancestry older adults; 2,588 european ancestry older adults(p-value = 1E-6 ;OR = 0.0091). 0.4 The complex genetics of gait speed: genome-wide meta-analysis approach. genome-wide association analysis NONHSAT163152.1 lncRNA Gait measurement 0.33 GCCATGCGTC(C > T)GGTCACAGCA chr12: 132442096 0.7354,0.2646 0.66246973751274209,0.33753026248725790 Region score:0.23; TSS score:0.25; Unmatched score:0.13; Average GERP:0 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003003 27863252 NONHSAT056521.2 rs3208787 G N/A 171,529 european ancestry individuals EFO_0005192 N/A Associate Red cell distribution width rs3208787-G of NONHSAT056521.2 is significantly associated with the red cell distribution width by using GWAS analysis in 171,529 european ancestry individuals(p-value = 1E-11 ;OR = 0.03248959). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT056521.2 lncRNA Red blood cell distribution width 0.33 GATAACTGTT(A > G)TTATAACCAA chr17: 81558634 0.7019,0.2981 0.74549248216106014,0.25450751783893985 Region score:0.48; TSS score:0.57; Unmatched score:0.6; Average GERP:1.14019900990099 GeneName:FAAP100; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000185504; TranscriptID:ENST00000536161; AnnoType:UPSTREAM; mirSVR-Score:-0.0344; mirSVR-E:-10.23 | GeneName:NPLOC4; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000182446; TranscriptID:ENST00000331134; AnnoType:3PRIME_UTR; mirSVR-Score:-0.0344; mirSVR-E:-10.23 | NCRV0000003004 27863252 NONHSAT155755.1 rs7332 A N/A 170,761 european ancestry individuals EFO_0007986 N/A Associate High light scatter reticulocyte count rs7332-A of NONHSAT155755.1 is significantly associated with the high light scatter reticulocyte count by using GWAS analysis in 170,761 european ancestry individuals(p-value = 4E-11 ;OR = 0.0237027). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT155755.1 lncRNA Reticulocyte count 0.33 TAACTTCCCC(G > A)TGCTGTGGTG chr10: 79354304 0.3504,0.6496 0.38430969673802242,0.61569030326197757 Region score:0.37; TSS score:0.65; Unmatched score:0.73; Average GERP:0.09954653465346538 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000409509; AnnoType:REGULATORY; mirSVR-Score:-0.3498; mirSVR-E:-18.61 | GeneName:PPIF; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000108179; TranscriptID:ENST00000225174; AnnoType:3PRIME_UTR; mirSVR-Score:-0.3498; mirSVR-E:-18.61 | NCRV0000003005 26089329 NONHSAT151811.1 rs1937787 T N/A up to 1,592 african american cases//up to 13,154 african american controls EFO_0000712 N/A Associate Stroke rs1937787-T of NONHSAT151811.1 is significantly associated with the stroke by using GWAS analysis in up to 1,592 african american cases//up to 13,154 african american controls(p-value = 7E-7 ;OR = 0.27). 0.4 Meta-Analysis of Genome-Wide Association Studies Identifies Genetic Risk Factors for Stroke in African Americans. genome-wide association analysis NONHSAT151811.1 lncRNA Stroke 0.33 GTTCTTTCTA(T > C)AGGTCATATA chr1: 80373593 0.7919,0.2081 0.77733180428134556,0.22266819571865443 Region score:0.34; TSS score:0.28; Unmatched score:0.61; Average GERP:-1.4611435643564368 GeneName:AL606519.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000225598; TranscriptID:ENST00000458146; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003006 23049088 NONHSAT199385.1 rs11723530 ? N/A 187 european ancestry cases//1064 european ancestry controls; EFO_0004207 N/A Associate Myopia (pathological) rs11723530-? of NONHSAT199385.1 is significantly associated with the myopia (pathological) by using GWAS analysis in 187 european ancestry cases//1064 european ancestry controls; (p-value = 4E-6 ;OR = ?). 0.4 A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population. genome-wide association analysis NONHSAT199385.1 lncRNA Pathological myopia 0.33 CATAAAAATG(G > A)TAGGAGCAAT chr4: 169959732 0.7212,0.2788 0.62690335117227319,0.37309664882772680 Region score:0.19; TSS score:0.28; Unmatched score:0.16; Average GERP:-1.041831683168317 GeneName:AC084866.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000251200; TranscriptID:ENST00000509956; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LINC02275; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000248319; TranscriptID:ENST00000508313; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003007 30074406 GAS5 rs145204276 del AGGCA N/a Glioma development in a chinese population EFO_0005543 N/A Increasing risk Glioma rs145204276-del AGGCA of GAS5 and its dysfunction is significantly associated with the increasing risk of Glioma by using analysis of sequence variation in glioma development in a Chinese population. By using the disease cell lines or tissues, the interference and mutation of GAS5 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 LncRNA GAS5 Indel Genetic Polymorphism Contributes to Glioma Risk Through Interfering Binding of Transcriptional Factor TFAP2A. analysis of sequence variation; Function GAS5 lncRNA Glioma 0.593 GAGGGGGCGC(GAGGCA > G)AGGCAAGGAA chr1: 173868253 0.8798,0.1202 0.90242737003058103,0.09757262996941896 N/A GeneName:GAS5-AS1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000270084; TranscriptID:ENST00000602767; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GAS5; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000234741; TranscriptID:ENST00000431268; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000015994; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ZBTB37; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000185278; TranscriptID:ENST00000367701; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003008 28928442 NONHSAT187766.1 rs138302247 ? N/A 60,098 european ancestry cases//113,323 european ancestry controls EFO_0007924 N/A Associate Tonsillectomy rs138302247-? of NONHSAT187766.1 is significantly associated with the tonsillectomy by using GWAS analysis in 60,098 european ancestry cases//113,323 european ancestry controls(p-value = 3E-6 ;OR = 0.4152). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. genome-wide association analysis NONHSAT187766.1 lncRNA Tonsillectomy risk measurement 0.33 AAAGGTACTG(T > G)TAATATTCTA chr2: 172230528 0.999,0.0009984 0.99913194444444444,0.00086805555555555 Region score:0.4; TSS score:0.5; Unmatched score:0.26; Average GERP:-0.5607207920792078 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003009 27989323 NONHSAT183837.1 rs188654279 G N/A 3,409 finnish ancestry individuals EFO_0005140 N/A Associate Interleukin-7 levels rs188654279-G of NONHSAT183837.1 is significantly associated with the interleukin-7 levels by using GWAS analysis in 3,409 finnish ancestry individuals(p-value = 6E-6 ;OR = 0.7669). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. genome-wide association analysis NONHSAT183837.1 lncRNA Autoimmune disease 0.33 ATGTGAGAAC(G > A)GACTAATACA chr2: 236890971 0.9996,0.0003994 0.99818425076452599,0.00181574923547400 Region score:0.21; TSS score:0.22; Unmatched score:0.11; Average GERP:-0.4502257425742574 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003010 27863252 NONHSAT073752.2 rs7563124 A N/A 173,039 european ancestry individuals EFO_0004348 N/A Associate Hematocrit rs7563124-A of NONHSAT073752.2 is significantly associated with the hematocrit by using GWAS analysis in 173,039 european ancestry individuals(p-value = 8E-20 ;OR = 0.03930806). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT073752.2 lncRNA Hematocrit 0.33 CATGCCCGGC(T > A)AATTTTTTTG chr2: 113207621 0.7614,0.2386 0.74300777268093781,0.25699222731906218 Region score:0.39; TSS score:0.46; Unmatched score:0.37; Average GERP:-0.1132376237623762 GeneName:PAX8-AS1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000189223; TranscriptID:ENST00000456685; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PSD4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000125637; TranscriptID:ENST00000245796; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003011 25961943 NONHSAT179794.1 rs438811 T N/A up to 62,166 european ancestry individuals EFO_0000319 N/A Associate Triglycerides rs438811-T of NONHSAT179794.1 is significantly associated with the triglycerides by using GWAS analysis in up to 62,166 european ancestry individuals(p-value = 9E-37 ;OR = 0.096). 0.4 The impact of low-frequency and rare variants on lipid levels. genome-wide association analysis NONHSAT179794.1 lncRNA Cardiovascular disease 0.33 AATTTTTGAA(C > T)TTTTTTGTAG chr19: 44913484 0.7208,0.2792 0.70938455657492354,0.29061544342507645 Region score:0.27; TSS score:0.33; Unmatched score:0.7; Average GERP:0.03322772277227725 GeneName:AC011481.3; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000280087; TranscriptID:ENST00000623895; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:APOC1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000130208; TranscriptID:ENST00000588750; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:APOE; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000130203; TranscriptID:ENST00000252486; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003012 28029757 NONHSAT207134.1 rs141530233 ? N/A 1,015 european ancestry granulomatosis with polyangiitis cases//206 european ancestry microscopic polyangiitis cases//3,258 european ancestry controls.; 541 european ancestry granulomatosis with polyangiitis cases//30 european ancestry microscopic polyangiitis cases//1,465 european ancestry controls. EFO_0004826 N/A Associate Antineutrophil cytoplasmic antibody-associated vasculitis rs141530233-? of NONHSAT207134.1 is significantly associated with the antineutrophil cytoplasmic antibody-associated vasculitis by using GWAS analysis in 1,015 european ancestry granulomatosis with polyangiitis cases//206 european ancestry microscopic polyangiitis cases//3,258 european ancestry controls.; 541 european ancestry granulomatosis with polyangiitis cases//30 european ancestry microscopic polyangiitis cases//1,465 european ancestry controls.(p-value = 1E-89 ;OR = 2.99). 0.4 Identification of Functional and Expression Polymorphisms Associated With Risk for Antineutrophil Cytoplasmic Autoantibody-Associated Vasculitis. genome-wide association analysis NONHSAT207134.1 lncRNA Anti-neutrophil antibody associated vasculitis 0.33 CGAGCTGGGC(G > GA)GGCCCATGAC chr6: 33080911 N/A RS=141530233;RSPOS=33080911;dbSNPBuildID=134;SSR=0;SAO=0;VP=0x05020002120504001e000200;GENEINFO=HLA-DPB1:3115|HLA-DPA1:3113;WGT=1;VC=DIV;S3D;NSF;REF;R5;ASP;VLD;KGPhase1 N/A GeneName:HLA-DPA1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000231389; TranscriptID:ENST00000419277; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HLA-DPB1; CADD-Score:7; Consquence:frameshift; GeneID:ENSG00000223865; TranscriptID:ENST00000418931; AnnoType:FRAME_SHIFT; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000195743; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000788038; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RPL32P1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000224796; TranscriptID:ENST00000439737; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003013 27989323 NONHSAT098168.2 rs13143163 G N/A 3,685 finnish ancestry individuals EFO_0005140 N/A Associate Monokine induced by gamma interferon levels rs13143163-G of NONHSAT098168.2 is significantly associated with the monokine induced by gamma interferon levels by using GWAS analysis in 3,685 finnish ancestry individuals(p-value = 4E-6 ;OR = 0.2706). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. genome-wide association analysis NONHSAT098168.2 lncRNA Autoimmune disease 0.33 TTTTCAGAGA(G > C)AGAGAGATGG chr4: 122707083 0.979,0.02097 0.96048356269113149,0.03951643730886850 Region score:0.3; TSS score:0.1; Unmatched score:0.03; Average GERP:-0.06373757894736846 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003014 18634034 mir-146a rs2910164 T N/A 1,009 breast cancer cases and 1,093 cancer-free controls EFO_0000305 N/A no significance for risk breast carcinoma rs2910164-T of hsa-mir-146a and its dysfunction is not significantly associated with Breast carcinoma by using case-control analysis in 1,009 breast cancer cases and 1,093 cancer-free controls -0.4 Common genetic variants in pre-microRNAs were associated with increased risk of breast cancer in Chinese women. case-control analysis hsa-mir-146a miRNA Breast carcinoma -0.125 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 0 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003014 20640596 miR-146a rs2910164 T N/A 3,287 cases and 4,298 controls EFO_0000305 N/A no significance for risk breast carcinoma rs2910164-T of hsa-mir-146a and its dysfunction is not significantly associated with Breast carcinoma by using meta-analysis in 3,287 cases and 4,298 controls -0.4 The association between two polymorphisms in pre-miRNAs and breast cancer risk: a meta-analysis. meta-analysis hsa-mir-146a miRNA Breast carcinoma -0.125 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 0 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003014 24521023 miR-146a rs2910164 C N/a 236 patients with breast cancer and 203 healthy individuals. EFO_0000305 N/A No significance for risk Breast cancer rs2910164-C of miR-146a and its dysfunction is not significantly associated with breast cancer by using case-control analysis in 236 patients with breast cancer and 203 healthy individuals -0.4 hsa-mir-499 rs3746444 gene polymorphism is associated with susceptibility to breast cancer in an Iranian population. case-control analysis hsa-mir-146a miRNA Breast cancer -0.125 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 N/A 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003014 26476291 miR146a rs2910164 G N/A 160 sporadic breast cancer cases and matched controls in an Australian population, with a replicate population of 403 breast cancer cases EFO_0000305 N/A increasing risk breast carcinoma rs2910164-G of hsa-mir-146a and its dysfunction is significantly associated with the increasing risk of Breast carcinoma by using case-control analysis in 160 sporadic breast cancer cases and matched controls in an Australian population, with a replicate population of 403 breast cancer cases 0.4 Association of the microRNA-Single Nucleotide Polymorphism rs2910164 in miR146a with sporadic breast cancer susceptibility: A case control study. case-control analysis hsa-mir-146a miRNA Breast carcinoma -0.125 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 0 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003014 26125831 miR-146a rs2910164 C Recessive 321 breast cancer patients and 290 controls in the chinese population EFO_0000305 N/A Increasing risk Breast cancer rs2910164-C of miR-146a and its dysfunction is significantly associated with the increasing risk of breast cancer by using case-control analysis in 321 breast cancer patients and 290 controls in the Chinese population. 0.4 Associations of miRNA polymorphisms and expression levels with breast cancer risk in the Chinese population. case-control analysis hsa-mir-146a miRNA Breast cancer -0.125 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 N/A 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003015 24529757 NONHSAT039466.2 rs7148498 ? N/A 250 han chinese ancestry cases//250 han chinese ancestry controls EFO_0001357 N/A Associate Amyotrophic lateral sclerosis (sporadic) rs7148498-? of NONHSAT039466.2 is significantly associated with the amyotrophic lateral sclerosis (sporadic) by using GWAS analysis in 250 han chinese ancestry cases//250 han chinese ancestry controls(p-value = 1E-6 ;OR = ?). 0.4 Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations. genome-wide association analysis NONHSAT039466.2 lncRNA Sporadic amyotrophic lateral sclerosis 0.33 CCTTGAGTCA(C > T)CTTGTCTGCA chr14: 95641618 0.8678,0.1322 0.88076580020387359,0.11923419979612640 Region score:0.31; TSS score:0.26; Unmatched score:0.24; Average GERP:-0.8334853465346532 GeneName:AL133467.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000258927; TranscriptID:ENST00000555032; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AL133467.4; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000270038; TranscriptID:ENST00000602953; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003016 28636993 circ-ITCH rs10485505 T Dominant 1,600 hcc cases and 1,800 cancer-free controls EFO_0000182 N/A Increasing risk Hepatocellular carcinoma rs10485505-T of circ-ITCH and its dysfunction is significantly associated with the increasing risk of Hepatocellular carcinoma by using case-control analysis in 1,600 HCC cases and 1,800 cancer-free controls . 0.4 Polymorphisms and expression pattern of circular RNA circ-ITCH contributes to the carcinogenesis of hepatocellular carcinoma. case-control analysis circ-ITCH circRNA Hepatocellular cancer 0.33 TGTTTCTAAT(C > G,T)TATGACTAGA chr20: 34437762 0.9317,.,0.06829 0.94187213302752293,0.00006371049949031,0.05806415647298674 Region score:0.53; TSS score:0.22; Unmatched score:0.29; Average GERP:-0.10954158415841578 GeneName:ITCH-AS1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000236388; TranscriptID:ENST00000454205; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ITCH; CADD-Score:2; Consquence:intron; GeneID:ENSG00000078747; TranscriptID:ENST00000262650; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000649693; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003017 16251535 miR-206 rs759899676 T Dominant 75 patients with cll and 160 control subjects EFO_0000095 N/A Increasing risk Chronic lymphocytic leukemia rs759899676-T of miR-206 and its dysfunction is significantly associated with the increasing risk of chronic lymphocytic leukemia by using case-control analysis in 75 patients with CLL and 160 control subjects. 0.4 A MicroRNA signature associated with prognosis and progression in chronic lymphocytic leukemia. case-control analysis hsa-mir-206 miRNA Chronic lymphocytic leukemia 0.33 GGATTACTTT(G > A,T)CTATGGAATG chr6: 52144397 N/A 0.99998407237512742,.,0.00001592762487257 N/A GeneName:LINCMD1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000225613; TranscriptID:ENST00000418518; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR133B; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000199080; TranscriptID:ENST00000362210; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR206; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207604; TranscriptID:ENST00000384872; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003018 24888363 MIR137 rs185304769 T N/A 345 BD patients, 426 SZ patients and 1376 healthy individuals, all unrelated, in V?sterbotten region of Northern Sweden EFO_0000692 N/A increasing risk schizophrenia rs185304769-T of hsa-mir-137 and its dysfunction is significantly associated with the increasing risk of Schizophrenia by using case-control analysis in 345 BD patients, 426 SZ patients and 1376 healthy individuals, all unrelated, in V?sterbotten region of Northern Sweden 0.9 MIR137 variants identified in psychiatric patients affect synaptogenesis and neuronal transmission gene sets. case-control analysis hsa-mir-137 miRNA Schizophrenia 0.593 GAGGACCAAG(C > T)TGCCGCTGCC chr1: 98046175 0.9982,0.001797 0.99870189857288481,0.00129810142711518 Region score:0.64; TSS score:0.69; Unmatched score:0.93; Average GERP:3.461976744186046 GeneName:MIR137; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284202; TranscriptID:ENST00000385223; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR137HG; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000225206; TranscriptID:ENST00000634594; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR2682; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284247; TranscriptID:ENST00000580305; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000010436; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000366415; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003019 28159929 PRNCR1 rs1016343 T Dominant several case-control studies EFO_0000311 N/A increasing risk cancer rs1016343-T of PRNCR1 and its dysfunction is significantly associated with the increasing risk of Cancer by using meta-analysis in several case-control studies 0.4 The HOTAIR, PRNCR1 and POLR2E polymorphisms are associated with cancer risk: a meta-analysis. meta-analysis PRNCR1 lncRNA Cancer 0.33 CATTTCCCTC(C > T)CATGATTACT chr8: 127081052 0.7939,0.2061 0.79183390672782874,0.20816609327217125 Region score:0.27; TSS score:0.43; Unmatched score:0.44; Average GERP:-2.083060891089109 GeneName:CASC19; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000254166; TranscriptID:ENST00000523510; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000230484; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000869254; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PCAT1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000253438; TranscriptID:ENST00000646670; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PRNCR1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000282961; TranscriptID:ENST00000635449; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003020 27863252 NONHSAT053017.2 rs9906695 T N/A 170,494 european ancestry individuals EFO_0007989 N/A Associate Monocyte percentage of white cells rs9906695-T of NONHSAT053017.2 is significantly associated with the monocyte percentage of white cells by using GWAS analysis in 170,494 european ancestry individuals(p-value = 3E-11 ;OR = 0.02865212). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT053017.2 lncRNA Monocypte percentage of leukocytes 0.33 ACTGAAGTGG(C > A,T)GTATGATTTT chr17: 34219137 0.881,.,0.119 0.82689857288481141,0.00001592762487257,0.17308549949031600 Region score:0.42; TSS score:0.38; Unmatched score:0.08; Average GERP:-0.6531207920792081 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000553882; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003021 27626436 H19 rs2067051 T Dominant 703 Coal Workers' Pneumoconiosis cases and 705 controls. EFO_1000814 N/A decreasing risk anthracosis rs2067051-T of H19 and its dysfunction is significantly associated with the decreasing risk of Anthracosis by using case-control analysis in 703 Coal Workers' Pneumoconiosis cases and 705 controls. 0.4 Polymorphisms in Long Noncoding RNA H19 Contribute to the Protective Effects of Coal Workers' Pneumoconiosis in a Chinese Population. case-control analysis H19 lncRNA Anthracosis 0.33 CTCCTGGTGA(C > A,T)GTCCTGCTGC chr11: 1996938 0.7137,.,0.2863 1 Region score:0.24; TSS score:0.38; Unmatched score:0.9; Average GERP:0.018400990099009955 GeneName:H19; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000130600; TranscriptID:ENST00000414790; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LINC01219; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000232987; TranscriptID:ENST00000418612; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR675; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284010; TranscriptID:ENST00000390168; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000035875; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01972; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000275266; TranscriptID:ENST00000617997; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01973; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000274866; TranscriptID:ENST00000620857; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003022 28112199 NONHSAT185338.1 rs12711846 G N/A 1,842 european ancestry chronic lymphocytic leukemia cases//1,465 european ancestry hodgkin lymphoma cases//3,790 european ancestry multiple myeloma cases//7,324 european ancestry controls EFO_0001378 N/A Associate B-cell malignancies (chronic lymphocytic leukemia//hodgkin lymphoma or multiple myeloma) (pleiotropy) rs12711846-G of NONHSAT185338.1 is significantly associated with the b-cell malignancies (chronic lymphocytic leukemia//hodgkin lymphoma or multiple myeloma) (pleiotropy) by using GWAS analysis in 1,842 european ancestry chronic lymphocytic leukemia cases//1,465 european ancestry hodgkin lymphoma cases//3,790 european ancestry multiple myeloma cases//7,324 european ancestry controls(p-value = 3E-14 ;OR = ?). 0.4 Genome-wide association analysis of chronic lymphocytic leukaemia, Hodgkin lymphoma and multiple myeloma identifies pleiotropic risk loci. genome-wide association analysis NONHSAT185338.1 lncRNA Multiple myeloma 0.33 AACTCTTGTT(A > G)TCTTTGAAAC chr2: 111098716 0.7656,0.2344 0.74310333843017329,0.25689666156982670 Region score:0.16; TSS score:0.23; Unmatched score:0.3; Average GERP:-0.35023831683168344 GeneName:ACOXL-AS1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000204581; TranscriptID:ENST00000376593; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ACOXL; CADD-Score:2; Consquence:intron; GeneID:ENSG00000153093; TranscriptID:ENST00000439055; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR4435-2HG; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000172965; TranscriptID:ENST00000645030; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003023 26634245 NONHSAT161455.1 rs17368814 A N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs17368814-A of NONHSAT161455.1 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 3E-6 ;OR = 0.07). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT161455.1 lncRNA Pulmonary function measurement 0.33 CTCTGAAGTC(A > G)GCTACTTTCT chr11: 102877965 0.9403,0.0597 0.91837092252803261,0.08162907747196738 Region score:0.53; TSS score:0.5; Unmatched score:0.38; Average GERP:-1.1525247524752475 GeneName:BOLA3P1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000255469; TranscriptID:ENST00000530713; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MMP12; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000262406; TranscriptID:ENST00000571244; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000440660; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003024 27989323 NONHSAT108445.2 rs148287449 G N/A 7,565 finnish ancestry individuals EFO_0008130 N/A Associate Fibroblast growth factor basic levels rs148287449-G of NONHSAT108445.2 is significantly associated with the fibroblast growth factor basic levels by using GWAS analysis in 7,565 finnish ancestry individuals(p-value = 3E-6 ;OR = 0.2013). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. genome-wide association analysis NONHSAT108445.2 lncRNA Fibroblast growth factor basic measurement 0.33 ATGAAGGAAA(G > A)CTACCCTCCC chr6: 28171051 0.9972,0.002796 0.99643221202854230,0.00356778797145769 Region score:0.43; TSS score:0.17; Unmatched score:0.11; Average GERP:0.056594059405940575 GeneName:AL022393.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000280107; TranscriptID:ENST00000625142; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ZNF192P1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000226314; TranscriptID:ENST00000562227; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003025 27863252 NONHSAT029939.2 rs59883166 AT N/A 172,433 european ancestry individuals EFO_0004526 N/A Associate Mean corpuscular volume rs59883166-AT of NONHSAT029939.2 is significantly associated with the mean corpuscular volume by using GWAS analysis in 172,433 european ancestry individuals(p-value = 2E-11 ;OR = 0.03858732). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT029939.2 lncRNA Mean corpuscular volume 0.33 CACCCAGCTA(A > AT,ATT)TTTTTTTTTT chr12: 93364542 0.8502,0.1498,. 0.89361142966360856,0.10624522171253822,0.00014334862385321 N/A GeneName:AC124947.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000257252; TranscriptID:ENST00000552835; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003026 26152337 hsa-mir-449b rs10061133 G N/a 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs10061133-G of hsa-mir-449b and its dysfunction is not significantly associated with hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors. -0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. case-control analysis hsa-mir-449b miRNA Hepatocellular cancer -0.33 GCCAGCTAAC(A > G)ATACACTGCC chr5: 55170716 0.8778,0.1222 0.90871081804281345,0.09128918195718654 Region score:0.74; TSS score:0.59; Unmatched score:0.74; Average GERP:2.2918118811881194 GeneName:CDC20B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000164287; TranscriptID:ENST00000381375; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GPX8; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000164294; TranscriptID:ENST00000296734; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR449A; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000198983; TranscriptID:ENST00000362113; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR449B; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207728; TranscriptID:ENST00000384995; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR449C; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000251856; TranscriptID:ENST00000516047; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003027 28476931 NONHSAT067110.2 rs3760788 T N/A 509 pima indian ancestry individuals EFO_0001073 N/A Associate Resting metabolic rate rs3760788-T of NONHSAT067110.2 is significantly associated with the resting metabolic rate by using GWAS analysis in 509 pima indian ancestry individuals(p-value = 3E-6 ;OR = 61.29424). 0.4 A Genome-Wide Association Study Using a Custom Genotyping Array Identifies Variants in GPR158 Associated With Reduced Energy Expenditure in American Indians. genome-wide association analysis NONHSAT067110.2 lncRNA Obesity 0.33 CTGCGTCTCC(C > T)CCTCCATTAC chr19: 48812735 0.6562,0.3438 0.66655517329255861,0.33344482670744138 Region score:0.4; TSS score:0.5; Unmatched score:0.9; Average GERP:0.07483327722772283 GeneName:BCAT2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000105552; TranscriptID:ENST00000316273; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HSD17B14; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000087076; TranscriptID:ENST00000263278; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000110783; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000288843; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003028 28928442 NONHSAT096235.2 rs77790617 ? N/A 4,426 european ancestry cases//84,290 european ancestry controls EFO_0008407 N/A Associate Tuberculosis rs77790617-? of NONHSAT096235.2 is significantly associated with the tuberculosis by using GWAS analysis in 4,426 european ancestry cases//84,290 european ancestry controls(p-value = 4E-7 ;OR = 1.9662). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. genome-wide association analysis NONHSAT096235.2 lncRNA Susceptibility to mycobacterium tuberculosis infection measurement 0.33 TTCTGAGAAT(A > G)TATCTTTCAG chr4: 45323768 0.9914,0.008586 0.99448904179408766,0.00551095820591233 Region score:0.33; TSS score:0.27; Unmatched score:0.43; Average GERP:0.04533663366336637 GeneName:THAP12P9; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000248320; TranscriptID:ENST00000503971; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003029 20018283 NONHSAT196733.1 rs17366568 G N/A 4,659 european ancestry individuals; 13,795 european ancestry individuals EFO_0000319 N/A Associate Adiponectin levels rs17366568-G of NONHSAT196733.1 is significantly associated with the adiponectin levels by using GWAS analysis in 4,659 european ancestry individuals; 13,795 european ancestry individuals(p-value = 1E-41 ;OR = 0.13). 0.4 Clear detection of ADIPOQ locus as the major gene for plasma adiponectin: results of genome-wide association analyses including 4659 European individuals. genome-wide association analysis NONHSAT196733.1 lncRNA Cardiovascular disease 0.33 GGTTAGCATT(G > A)AATGGAGCAA chr3: 186852664 0.9349,0.0651 0.91760639653414882,0.08239360346585117 Region score:0.37; TSS score:0.34; Unmatched score:0.47; Average GERP:-0.7121405940594059 GeneName:ADIPOQ-AS1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000226482; TranscriptID:ENST00000422718; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ADIPOQ; CADD-Score:2; Consquence:intron; GeneID:ENSG00000181092; TranscriptID:ENST00000444204; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003030 26962152 NONHSAT172742.1 rs1156327 ? N/A 394 european american individuals with periodontal health//389 european american individuals with mild-moderate periodontitis//192 european american individuals with severe periodontitis EFO_0000649 N/A Associate Periodontal disease-related phenotypes rs1156327-? of NONHSAT172742.1 is significantly associated with the periodontal disease-related phenotypes by using GWAS analysis in 394 european american individuals with periodontal health//389 european american individuals with mild-moderate periodontitis//192 european american individuals with severe periodontitis(p-value = 3E-10 ;OR = 1.45). 0.4 Genome-wide association study of biologically informed periodontal complex traits offers novel insights into the genetic basis of periodontal disease. genome-wide association analysis NONHSAT172742.1 lncRNA Periodontitis 0.33 TCCAATGACC(T > A,C)ATGGCATGAA chr16: 19337202 0.2115,.,0.7885 0.15646502293577981,0.01324382008154943,0.83029115698267074 Region score:0.37; TSS score:0.24; Unmatched score:0.08; Average GERP:-0.2622286138613862 GeneName:AC130456.8; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000285869; TranscriptID:ENST00000648468; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003031 26249676 NONHSAT047766.2 rs1466921 T N/A 113 schizophrenia cases//126 controls EFO_0000692 N/A Associate Left superior temporal gyrus thickness (schizophrenia interaction) rs1466921-T of NONHSAT047766.2 is significantly associated with the left superior temporal gyrus thickness (schizophrenia interaction) by using GWAS analysis in 113 schizophrenia cases//126 controls(p-value = 9E-7 ;OR = 0.353). 0.4 Genetic underpinnings of left superior temporal gyrus thickness in patients with schizophrenia. genome-wide association analysis NONHSAT047766.2 lncRNA Schizophrenia 0.33 ATGGGAAACA(T > C)GCTGCAGCTG chr15: 82092316 0.245,0.755 0.26136436034658511,0.73863563965341488 Region score:0.39; TSS score:0.36; Unmatched score:0.66; Average GERP:-1.4710217821782177 GeneName:LINC01583; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000259518; TranscriptID:ENST00000558082; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003032 23251661 NONHSAT218638.1 rs7004587 A N/A 815 hispanic children from 263 families EFO_0004612 N/A Associate Obesity-related traits rs7004587-A of NONHSAT218638.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 3E-6 ;OR = 0.02). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. genome-wide association analysis NONHSAT218638.1 lncRNA High density lipoprotein cholesterol measurement 0.33 CCTTAGAAAA(G > A)ATAAATGGGC chr8: 107028124 0.973,0.02696 0.97638729612640163,0.02361270387359836 Region score:0.39; TSS score:0.15; Unmatched score:0.03; Average GERP:-0.8124712871287131 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003033 26210741 piRNA-021285 rs1326306 T N/a 441 breast cancer cases and 479 controls EFO_0000305 N/A Increasing risk Breast cancer rs1326306-T of piRNA-021285 and its dysfunction is significantly associated with the increasing risk of breast cancer by using meta-analysis in 441 breast cancer cases and 479 controls. By using the disease cell lines or tissues, the mutation of piRNA-021285 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 PIWI-interacting RNA 021285 is involved in breast tumorigenesis possibly by remodeling the cancer epigenome. meta-analysis; Function piRNA-021285 piRNA Breast cancer 0.593 CATTCAACAG(A > C)TTTTATTCTT chr13: 31364049 0.3846,0.6154 0.33477478338430173,0.66522521661569826 Region score:0.28; TSS score:0.07; Unmatched score:0.01; Average GERP:-1.0106129702970297 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003034 27951730 WT1-AS rs2234580 T N/A 313 AML patients EFO_0000222 N/A no significance for prognosis acute myeloid leukemia rs2234580-T of WT1-AS and its dysfunction is not significantly associated with Acute myeloid leukemia by using analysis of sequence variation in 313 AML patients -0.4 Long non-coding RNA GAS5 polymorphism predicts a poor prognosis of acute myeloid leukemia in Chinese patients via affecting hematopoietic reconstitution. analysis of sequence variation WT1-AS lncRNA Acute myeloid leukemia -0.33 GCGCGGGGAA(A > G)GAGGAGGAGC chr11:32435592 0.3486,0.6514 0.46597062945973496,0.53402937054026503 Region score:0.67;TSS score:0.64;Unmatched score:0.99;Average GERP:3.19 GeneName:RF02204; CADD_score:1; Consquence:upstream; GeneID:ENSG00000273677; TranscriptID:ENST00000613208; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF02209; CADD_score:1; Consquence:upstream; GeneID:ENSG00000273908; TranscriptID:ENST00000426618; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF02208; CADD_score:1; Consquence:upstream; GeneID:ENSG00000276530; TranscriptID:ENST00000614919; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF02210; CADD_score:1; Consquence:upstream; GeneID:ENSG00000277119; TranscriptID:ENST00000615200; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF02205; CADD_score:1; Consquence:upstream; GeneID:ENSG00000278045; TranscriptID:ENST00000613262; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF02203; CADD_score:1; Consquence:upstream; GeneID:ENSG00000278822; TranscriptID:ENST00000619639; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:WT1-AS; CADD_score:5; Consquence:noncoding_change; GeneID:ENSG00000183242; TranscriptID:ENST00000395900; AnnoType:NonCodingTranscript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD_score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000427352; AnnoType:RegulatoryFeature; mirSVR-Score:NA; mirSVR-E:NA | GeneName:WT1; CADD_score:3; Consquence:5prime_utr; GeneID:ENSG00000184937; TranscriptID:ENST00000332351; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003035 26545240 NONHSAT175021.1 rs2019216 C N/A 793 african american cases//948 african american controls//606 hispanic cases//305 hispanic controls EFO_0004710 N/A Associate Pelvic organ prolapse rs2019216-C of NONHSAT175021.1 is significantly associated with the pelvic organ prolapse by using GWAS analysis in 793 african american cases//948 african american controls//606 hispanic cases//305 hispanic controls(p-value = 7E-6 ;OR = 1.2987013). 0.4 Genetic Determinants of Pelvic Organ Prolapse among African American and Hispanic Women in the Women's Health Initiative. genome-wide association analysis NONHSAT175021.1 lncRNA Pelvic organ prolapse 0.33 CCACGCACTT(C > T)GCACCCCTCC chr17: 22410321 0.4497,0.5503 0.45526726554536187,0.54473273445463812 Region score:0.29; TSS score:0.15; Unmatched score:0.12; Average GERP:0.031515151515151545 GeneName:AC209154.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000266746; TranscriptID:ENST00000582156; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0471; mirSVR-E:-21.01 | GeneName:FLJ36000; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000276399; TranscriptID:ENST00000612344; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0471; mirSVR-E:-21.01 | NCRV0000003036 25476857 HOTAIR rs12826786 T N/A 515 gastric cardia adenocarcinoma patients and 654 control subjects EFO_1001252 N/A increasing risk gastric cardia carcinoma rs12826786-T of HOTAIR and its dysfunction is significantly associated with the increasing risk of Gastric cardia carcinoma by using case-control analysis in 515 gastric cardia adenocarcinoma patients and 654 control subjects 0.4 Associations between polymorphisms of HOTAIR and risk of gastric cardia adenocarcinoma in a population of north China. case-control analysis HOTAIR lncRNA Gastric cardia carcinoma 0.33 GTGAATTAGA(C > T)CTTTATCCTA chr12: 53961717 0.6424,0.3576 0.62241176095820591,0.37758823904179408 Region score:0.26; TSS score:0.59; Unmatched score:0.66; Average GERP:-0.08039504950495045 GeneName:HOTAIR; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000228630; TranscriptID:ENST00000424518; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC12; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000123407; TranscriptID:ENST00000243103; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000052264; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000458640; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01905; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000275589; TranscriptID:ENST00000611210; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01906; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277994; TranscriptID:ENST00000611352; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003037 27965458 HOTAIR rs7958904 C N/A 11 case-control studies EFO_0000311 N/A decreasing risk cancer rs7958904-C of HOTAIR and its dysfunction is significantly associated with the decreasing risk of Cancer by using meta-analysis in 11 case-control studies 0.4 Association between the HOTAIR polymorphisms and cancer risk: an updated meta-analysis. meta-analysis HOTAIR lncRNA Cancer 0.33 GTGGCTGACC(C > A,G)GAGCCGGGTG chr12: 53963768 0.4836,.,0.5164 0.48098241590214067,0.00000796381243628,0.51900962028542303 Region score:0.38; TSS score:0.62; Unmatched score:0.8; Average GERP:-1.4319297029702964 GeneName:AC012531.4; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000274817; TranscriptID:ENST00000616509; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC012531.5; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277129; TranscriptID:ENST00000611375; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOTAIR; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000228630; TranscriptID:ENST00000424518; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC12; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000123407; TranscriptID:ENST00000243103; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000458642; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01905; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000275589; TranscriptID:ENST00000611210; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01906; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277994; TranscriptID:ENST00000611352; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003038 28928442 NONHSAT108899.2 rs9268072 ? N/A 1,425 european ancestry cases//218,180 european ancestry controls EFO_0008405 N/A Associate Hepatitis b rs9268072-? of NONHSAT108899.2 is significantly associated with the hepatitis b by using GWAS analysis in 1,425 european ancestry cases//218,180 european ancestry controls(p-value = 1E-6 ;OR = 0.2518). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. genome-wide association analysis NONHSAT108899.2 lncRNA Susceptibility to hepatitis b infection measurement 0.33 GGCCAGTGAT(C > G)ATGAGCATTT chr6: 32264875 0.1456,0.8544 0.17464640672782874,0.82535359327217125 Region score:0.23; TSS score:0.1; Unmatched score:0.19; Average GERP:0 GeneName:TSBP1-AS1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000225914; TranscriptID:ENST00000425033; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003039 23251661 NONHSAT115250.2 rs11155053 A N/A 815 hispanic children from 263 families EFO_0004326 N/A Associate Obesity-related traits rs11155053-A of NONHSAT115250.2 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 9E-6 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. genome-wide association analysis NONHSAT115250.2 lncRNA Heart rate 0.33 GAGCACTTAA(C > T)GCAAAGAAAG chr6: 139338875 0.9227,0.07728 0.89646247451580020,0.10353752548419979 Region score:0.41; TSS score:0.56; Unmatched score:0.78; Average GERP:0.20743564356435645 GeneName:AL592429.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000218565; TranscriptID:ENST00000403909; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AL592429.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000226571; TranscriptID:ENST00000650173; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000203866; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003040 23251661 NONHSAT207152.1 rs9469457 A N/A 815 hispanic children from 263 families EFO_0003939 N/A Associate Obesity-related traits rs9469457-A of NONHSAT207152.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 9E-6 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. genome-wide association analysis NONHSAT207152.1 lncRNA Energy intake 0.33 GGGGTGAGAT(G > A)GTGCCATTCC chr6: 33522105 0.9559,0.04413 0.95663704128440366,0.04336295871559633 Region score:0.38; TSS score:0.27; Unmatched score:0.13; Average GERP:-0.04858118811881187 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003041 25327703 NONHSAT211294.1 rs140068132 A N/A 1,497 latino cases//3,213 latino controls; 1,643 latino cases//4,971 latino controls EFO_0000305 N/A Associate Breast cancer rs140068132-A of NONHSAT211294.1 is significantly associated with the breast cancer by using GWAS analysis in 1,497 latino cases//3,213 latino controls; 1,643 latino cases//4,971 latino controls(p-value = 9E-18 ;OR = 1.67). 0.4 Genome-wide association study of breast cancer in Latinas identifies novel protective variants on 6q25. genome-wide association analysis NONHSAT211294.1 lncRNA Breast cancer 0.33 TACATCAAAC(A > G)AATGCACGAA chr6: 151633699 0.9822,0.01777 0.98931256371049949,0.01068743628950050 Region score:0.46; TSS score:0.47; Unmatched score:0.34; Average GERP:-0.1834188118811882 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000809782; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003042 18264097 NONHSAT216396.1 rs6983267 G N/A 1,854 european ancestry cases//1,894 european ancestry controls; 3,268 european ancestry cases//3,366 european ancestry controls EFO_0001663 N/A Associate Prostate cancer rs6983267-G of NONHSAT216396.1 is significantly associated with the prostate cancer by using GWAS analysis in 1,854 european ancestry cases//1,894 european ancestry controls; 3,268 european ancestry cases//3,366 european ancestry controls(p-value = 9E-13 ;OR = 1.42). 0.4 Multiple newly identified loci associated with prostate cancer susceptibility. genome-wide association analysis NONHSAT216396.1 lncRNA Prostate cancer 0.663 CAGATGAAAG(G > T)CACTGAGAAA chr8: 127401060 0.6098,0.3902 0.62955530071355759,0.37044469928644240 Region score:0.81; TSS score:0.84; Unmatched score:0.71; Average GERP:4.0005643564356435 GeneName:CASC8; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000246228; TranscriptID:ENST00000502082; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CCAT2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000280997; TranscriptID:ENST00000630920; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000333360; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000869328; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PCAT1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000253438; TranscriptID:ENST00000645215; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:POU5F1B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000212993; TranscriptID:ENST00000645438; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003042 25939597 NONHSAT216396.1 rs6983267 G N/A 4,600 european ancestry cases//2,941 european ancestry controls; 7,779 european ancestry cases//7,623 european ancestry controls EFO_0001663 N/A Associate Prostate cancer rs6983267-G of NONHSAT216396.1 is significantly associated with the prostate cancer by using GWAS analysis in 4,600 european ancestry cases//2,941 european ancestry controls; 7,779 european ancestry cases//7,623 european ancestry controls(p-value = 4E-10 ;OR = 1.23). 0.4 Two susceptibility loci identified for prostate cancer aggressiveness. genome-wide association analysis NONHSAT216396.1 lncRNA Prostate cancer 0.663 CAGATGAAAG(G > T)CACTGAGAAA chr8: 127401060 0.6098,0.3902 0.62955530071355759,0.37044469928644240 Region score:0.81; TSS score:0.84; Unmatched score:0.71; Average GERP:4.0005643564356435 GeneName:CASC8; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000246228; TranscriptID:ENST00000502082; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CCAT2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000280997; TranscriptID:ENST00000630920; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000333360; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000869328; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PCAT1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000253438; TranscriptID:ENST00000645215; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:POU5F1B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000212993; TranscriptID:ENST00000645438; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003042 24753544 NONHSAT216396.1 rs6983267 G N/A 1,146 european ancestry cases//1,804 european ancestry controls; 1,854 european ancestry cases//1,437 european ancestry controls EFO_0001663 N/A Associate Prostate cancer rs6983267-G of NONHSAT216396.1 is significantly associated with the prostate cancer by using GWAS analysis in 1,146 european ancestry cases//1,804 european ancestry controls; 1,854 european ancestry cases//1,437 european ancestry controls(p-value = 4E-15 ;OR = 0.29). 0.4 Genetic variation in prostate-specific antigen-detected prostate cancer and the effect of control selection on genetic association studies. genome-wide association analysis NONHSAT216396.1 lncRNA Prostate cancer 0.663 CAGATGAAAG(G > T)CACTGAGAAA chr8: 127401060 0.6098,0.3902 0.62955530071355759,0.37044469928644240 Region score:0.81; TSS score:0.84; Unmatched score:0.71; Average GERP:4.0005643564356435 GeneName:CASC8; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000246228; TranscriptID:ENST00000502082; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CCAT2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000280997; TranscriptID:ENST00000630920; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000333360; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000869328; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PCAT1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000253438; TranscriptID:ENST00000645215; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:POU5F1B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000212993; TranscriptID:ENST00000645438; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003042 18264096 NONHSAT216396.1 rs6983267 G N/A 1,172 european ancestry cases//1,157 european ancestry controls; 3,941 european ancestry cases//3,964 european ancestry controls EFO_0001663 N/A Associate Prostate cancer rs6983267-G of NONHSAT216396.1 is significantly associated with the prostate cancer by using GWAS analysis in 1,172 european ancestry cases//1,157 european ancestry controls; 3,941 european ancestry cases//3,964 european ancestry controls(p-value = 7E-12 ;OR = 1.28). 0.4 Multiple loci identified in a genome-wide association study of prostate cancer. genome-wide association analysis NONHSAT216396.1 lncRNA Prostate cancer 0.663 CAGATGAAAG(G > T)CACTGAGAAA chr8: 127401060 0.6098,0.3902 0.62955530071355759,0.37044469928644240 Region score:0.81; TSS score:0.84; Unmatched score:0.71; Average GERP:4.0005643564356435 GeneName:CASC8; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000246228; TranscriptID:ENST00000502082; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CCAT2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000280997; TranscriptID:ENST00000630920; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000333360; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000869328; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PCAT1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000253438; TranscriptID:ENST00000645215; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:POU5F1B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000212993; TranscriptID:ENST00000645438; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003042 17401363 NONHSAT216396.1 rs6983267 G N/A 1,172 european ancestry cases//1,157 european ancestry controls; 3,124 european ancestry cases//3,142 european ancestry controls EFO_0001663 N/A Associate Prostate cancer rs6983267-G of NONHSAT216396.1 is significantly associated with the prostate cancer by using GWAS analysis in 1,172 european ancestry cases//1,157 european ancestry controls; 3,124 european ancestry cases//3,142 european ancestry controls(p-value = 9E-13 ;OR = 1.26). 0.4 Genome-wide association study of prostate cancer identifies a second risk locus at 8q24. genome-wide association analysis NONHSAT216396.1 lncRNA Prostate cancer 0.663 CAGATGAAAG(G > T)CACTGAGAAA chr8: 127401060 0.6098,0.3902 0.62955530071355759,0.37044469928644240 Region score:0.81; TSS score:0.84; Unmatched score:0.71; Average GERP:4.0005643564356435 GeneName:CASC8; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000246228; TranscriptID:ENST00000502082; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CCAT2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000280997; TranscriptID:ENST00000630920; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000333360; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000869328; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PCAT1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000253438; TranscriptID:ENST00000645215; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:POU5F1B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000212993; TranscriptID:ENST00000645438; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003042 21743057 NONHSAT216396.1 rs6983267 G N/A 2,782 european ancestry cases//4,458 european ancestry controls; 7,358 european ancestry cases//6,732 european ancestry controls EFO_0001663 N/A Associate Prostate cancer rs6983267-G of NONHSAT216396.1 is significantly associated with the prostate cancer by using GWAS analysis in 2,782 european ancestry cases//4,458 european ancestry controls; 7,358 european ancestry cases//6,732 european ancestry controls(p-value = 9E-6 ;OR = 1.2). 0.4 Genome-wide association study identifies new prostate cancer susceptibility loci. genome-wide association analysis NONHSAT216396.1 lncRNA Prostate cancer 0.663 CAGATGAAAG(G > T)CACTGAGAAA chr8: 127401060 0.6098,0.3902 0.62955530071355759,0.37044469928644240 Region score:0.81; TSS score:0.84; Unmatched score:0.71; Average GERP:4.0005643564356435 GeneName:CASC8; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000246228; TranscriptID:ENST00000502082; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CCAT2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000280997; TranscriptID:ENST00000630920; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000333360; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000869328; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PCAT1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000253438; TranscriptID:ENST00000645215; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:POU5F1B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000212993; TranscriptID:ENST00000645438; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003042 24740154 NONHSAT216396.1 rs6983267 G N/A 931 european ancestry cases//4,120 european ancestry controls; 2,571 european ancestry cases//921 european ancestry controls EFO_0001663 N/A Associate Prostate cancer (early onset) rs6983267-G of NONHSAT216396.1 is significantly associated with the prostate cancer (early onset) by using GWAS analysis in 931 european ancestry cases//4,120 european ancestry controls; 2,571 european ancestry cases//921 european ancestry controls(p-value = 1E-8 ;OR = 1.36). 0.4 Genome-wide association scan for variants associated with early-onset prostate cancer. genome-wide association analysis NONHSAT216396.1 lncRNA Prostate cancer 0.663 CAGATGAAAG(G > T)CACTGAGAAA chr8: 127401060 0.6098,0.3902 0.62955530071355759,0.37044469928644240 Region score:0.81; TSS score:0.84; Unmatched score:0.71; Average GERP:4.0005643564356435 GeneName:CASC8; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000246228; TranscriptID:ENST00000502082; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CCAT2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000280997; TranscriptID:ENST00000630920; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000333360; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000869328; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PCAT1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000253438; TranscriptID:ENST00000645215; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:POU5F1B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000212993; TranscriptID:ENST00000645438; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003042 26034056 NONHSAT216396.1 rs6983267 G N/A 6,406 european ancestry cases//601 african american cases//288 east asian ancestry cases//488 latino cases30,866 european ancestry controls//1,650 african american controls//2,938 east asian ancestry controls//3,141 latino controls; 4,599 european ancestry cases//2,265 african american cases//2,940 european ancestry controls//2,414 african american controls EFO_0001663 N/A Associate Prostate cancer rs6983267-G of NONHSAT216396.1 is significantly associated with the prostate cancer by using GWAS analysis in 6,406 european ancestry cases//601 african american cases//288 east asian ancestry cases//488 latino cases30,866 european ancestry controls//1,650 african american controls//2,938 east asian ancestry controls//3,141 latino controls; 4,599 european ancestry cases//2,265 african american cases//2,940 european ancestry controls//2,414 african american controls(p-value = 3E-24 ;OR = 1.25). 0.4 A large multiethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences. genome-wide association analysis NONHSAT216396.1 lncRNA Prostate cancer 0.663 CAGATGAAAG(G > T)CACTGAGAAA chr8: 127401060 0.6098,0.3902 0.62955530071355759,0.37044469928644240 Region score:0.81; TSS score:0.84; Unmatched score:0.71; Average GERP:4.0005643564356435 GeneName:CASC8; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000246228; TranscriptID:ENST00000502082; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CCAT2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000280997; TranscriptID:ENST00000630920; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000333360; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000869328; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PCAT1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000253438; TranscriptID:ENST00000645215; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:POU5F1B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000212993; TranscriptID:ENST00000645438; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003043 25261463 miR_148b rs11170877 G N/a 571 chinese gc patients and 571 cancer-free controls EFO_0000178 N/A Decreasing risk Gastric cancer rs11170877-G of miR_148b and its dysfunction is significantly associated with the decreasing risk of gastric cancer by using case-control analysis in 571 Chinese GC patients and 571 cancer-free controls. 0.4 Polymorphisms and haplotypes of the miR-148/152 family are associated with the risk and clinicopathological features of gastric cancer in a Northern Chinese population. case-control analysis hsa-mir-148b miRNA Gastric cancer 0.33 ACCAGTGGTG(A > G)TGGGAGGCTT chr12: 54340505 0.7987,0.2013 0.83707632517838939,0.16292367482161060 Region score:0.4; TSS score:0.13; Unmatched score:0.48; Average GERP:1.0027396039603957 GeneName:AC078778.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000258344; TranscriptID:ENST00000553061; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:COPZ1; CADD-Score:7; Consquence:start_lost; GeneID:ENSG00000111481; TranscriptID:ENST00000549043; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR148B; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000199122; TranscriptID:ENST00000362252; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RN7SL744P; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000264028; TranscriptID:ENST00000577604; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003044 27863252 NONHSAT061038.2 rs10409243 T N/A 169,822 european ancestry individuals EFO_0007987 N/A Associate Granulocyte count rs10409243-T of NONHSAT061038.2 is significantly associated with the granulocyte count by using GWAS analysis in 169,822 european ancestry individuals(p-value = 7E-9 ;OR = 0.02169456). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT061038.2 lncRNA Granulocyte count 0.33 AAAGAAGACA(C > A,G,T)AGCGGGGTTC chr19: 10222312 0.5797,.,.,0.4203 0.50259620285423037,0.00057339449541284,0.00312181447502548,0.49370858817533129 Region score:0.4; TSS score:0.68; Unmatched score:0.57; Average GERP:0.10211980198019809 GeneName:DNMT1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000130816; TranscriptID:ENST00000592342; AnnoType:INTRONIC; mirSVR-Score:-0.8233; mirSVR-E:-4.84 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000584242; AnnoType:REGULATORY; mirSVR-Score:-0.8233; mirSVR-E:-4.84 | GeneName:S1PR2; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000267534; TranscriptID:ENST00000646641; AnnoType:3PRIME_UTR; mirSVR-Score:-0.8233; mirSVR-E:-4.84 | NCRV0000003045 24861553 NONHSAT131816.2 rs11142387 C N/A 82,438 east asian ancestry individuals//4,301 south east asian ancestry individuals; up to 47,352 east asian ancestry individuals EFO_0001073 N/A Associate Body mass index rs11142387-C of NONHSAT131816.2 is significantly associated with the body mass index by using GWAS analysis in 82,438 east asian ancestry individuals//4,301 south east asian ancestry individuals; up to 47,352 east asian ancestry individuals(p-value = 3E-8 ;OR = 0.0324). 0.4 Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index. genome-wide association analysis NONHSAT131816.2 lncRNA Obesity 0.451 CTGGGCCCTG(A > C)CAACCACCCC chr9: 70383416 0.5116,0.4884 0.52366048674821610,0.47633951325178389 Region score:0.31; TSS score:0.18; Unmatched score:0.1; Average GERP:-0.8893247524752474 GeneName:KLF9; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000119138; TranscriptID:ENST00000377126; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000882167; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003045 22344221 NONHSAT131816.2 rs11142387 C N/A 26,620 japanese ancestry individuals; 35,625 east asian ancestry individuals EFO_0001073 N/A Associate Body mass index (snp x snp interaction) rs11142387-C of NONHSAT131816.2 is significantly associated with the body mass index (snp x snp interaction) by using GWAS analysis in 26,620 japanese ancestry individuals; 35,625 east asian ancestry individuals(p-value = 1E-9 ;OR = 0.04). 0.4 Common variants at CDKAL1 and KLF9 are associated with body mass index in east Asian populations. genome-wide association analysis NONHSAT131816.2 lncRNA Obesity 0.451 CTGGGCCCTG(A > C)CAACCACCCC chr9: 70383416 0.5116,0.4884 0.52366048674821610,0.47633951325178389 Region score:0.31; TSS score:0.18; Unmatched score:0.1; Average GERP:-0.8893247524752474 GeneName:KLF9; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000119138; TranscriptID:ENST00000377126; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000882167; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003046 24837172 NONHSAT108777.2 rs3749946 A N/A 603 north indian ancestry cases//622 north indian ancestry controls; 733 north indian ancestry cases//1,148 north indian ancestry controls EFO_0000729 N/A Associate Ulcerative colitis rs3749946-A of NONHSAT108777.2 is significantly associated with the ulcerative colitis by using GWAS analysis in 603 north indian ancestry cases//622 north indian ancestry controls; 733 north indian ancestry cases//1,148 north indian ancestry controls(p-value = 2E-15 ;OR = 1.97). 0.4 Genome-wide association scan in north Indians reveals three novel HLA-independent risk loci for ulcerative colitis. genome-wide association analysis NONHSAT108777.2 lncRNA Ulcerative colitis 0.33 AGTAGTCATT(C > A)CTTTATGCTG chr6: 31481085 0.8768,0.1232 0.88140290519877675,0.11859709480122324 Region score:0.24; TSS score:0.47; Unmatched score:0.3; Average GERP:0.11542574257425728 GeneName:HCP5; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000206337; TranscriptID:ENST00000467369; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003047 27467165 HOTAIR rs4759314 G N/A 510 cervical cancer patients (cases) and 713 cancer-free individuals (controls) in a Chinese Population EFO_0001061 N/A no significance for risk cervical carcinoma rs4759314-G of HOTAIR and its dysfunction is not significantly associated with Cervical carcinoma by using case-control analysis in 510 cervical cancer patients (cases) and 713 cancer-free individuals (controls) in a Chinese Population -0.4 Association of Long Non-Coding RNA HOTAIR Polymorphisms with Cervical Cancer Risk in a Chinese Population. case-control analysis HOTAIR lncRNA Cervical carcinoma -0.33 AAACAGGCCA(G > A)GCGGATGCAA chr12: 53968051 0.09505,0.905 0.06856046126401630,0.93143953873598369 Region score:0.43; TSS score:0.68; Unmatched score:0.83; Average GERP:2.8445544554455457 GeneName:AC012531.4; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000274817; TranscriptID:ENST00000616509; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC012531.5; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277129; TranscriptID:ENST00000611375; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOTAIR; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000228630; TranscriptID:ENST00000424518; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000458643; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01905; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000275589; TranscriptID:ENST00000611210; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01906; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000277994; TranscriptID:ENST00000611352; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003048 28743860 NONHSAT183032.1 rs6726821 G N/A 8,327 european ancestry individuals//2,087 individuals EFO_0007591 N/A Associate Tb-lm or tblh-bmd (pleiotropy) rs6726821-G of NONHSAT183032.1 is significantly associated with the tb-lm or tblh-bmd (pleiotropy) by using GWAS analysis in 8,327 european ancestry individuals//2,087 individuals(p-value = 4E-8 ;OR = ?). 0.4 Bivariate genome-wide association meta-analysis of pediatric musculoskeletal traits reveals pleiotropic effects at the SREBF1/TOM1L2 locus. genome-wide association analysis NONHSAT183032.1 lncRNA Bone mineral accretion measurement 0.33 CACTGTCTTG(T > G)GGGTTAGTCC chr2: 165721604 0.6753,0.3247 0.61542749745158002,0.38457250254841997 Region score:0.41; TSS score:0.45; Unmatched score:0.18; Average GERP:-0.34486831683168323 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003049 27863252 NONHSAT202777.1 rs2928166 C N/A 172,925 european ancestry individuals EFO_0004509 N/A Associate Hemoglobin concentration rs2928166-C of NONHSAT202777.1 is significantly associated with the hemoglobin concentration by using GWAS analysis in 172,925 european ancestry individuals(p-value = 3E-12 ;OR = 0.03737965). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT202777.1 lncRNA Hemoglobin measurement 0.33 CCCTCTGTTG(T > C)CCAGGCTGGA chr5: 77184008 0.5811,0.4189 0.72078873598369011,0.27921126401630988 Region score:0.27; TSS score:0.21; Unmatched score:0.07; Average GERP:-0.23602772277227715 GeneName:AC022414.1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000284762; TranscriptID:ENST00000646262; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003050 26252872 NONHSAT201500.1 rs190797076 G N/A 472 european ancestry cases//47 cases HP_0100543 N/A Associate Cognitive decline rate in late mild cognitive impairment rs190797076-G of NONHSAT201500.1 is significantly associated with the cognitive decline rate in late mild cognitive impairment by using GWAS analysis in 472 european ancestry cases//47 cases(p-value = 4E-6 ;OR = 0.6349). 0.4 Variations in the FRA10AC1 Fragile Site and 15q21 Are Associated with Cerebrospinal Fluid Abeta1-42 Level. genome-wide association analysis NONHSAT201500.1 lncRNA Cognitive impairment 0.33 ATTGAATAAA(G > A)ATACTTATTG chr4: 110589931 0.9966,0.003395 0.99147075688073394,0.00852924311926605 Region score:0.43; TSS score:0.26; Unmatched score:0.08; Average GERP:0.6001148514851484 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000311541; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003051 27863252 NONHSAT190541.1 rs558916355 T N/A 164,433 european ancestry individuals EFO_0007984 N/A Associate Platelet distribution width rs558916355-T of NONHSAT190541.1 is significantly associated with the platelet distribution width by using GWAS analysis in 164,433 european ancestry individuals(p-value = 3E-61 ;OR = 0.4589503). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT190541.1 lncRNA Platelet distribution width 0.33 TCCTGCATGA(C > T)GTCCATAGGA chr20: 59133359 0.9996,0.0003994 0.99658352446483180,0.00341647553516819 N/A GeneName:ZNF831; CADD-Score:2; Consquence:intron; GeneID:ENSG00000124203; TranscriptID:ENST00000637017; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003052 27701424 NONHSAT101850.2 rs10471753 C N/A 6,523 european ancestry individuals//6,490 individuals; 1,572 european ancestry individuals//6,655 individuals EFO_0007873 N/A Associate Hip minimal joint space width rs10471753-C of NONHSAT101850.2 is significantly associated with the hip minimal joint space width by using GWAS analysis in 6,523 european ancestry individuals//6,490 individuals; 1,572 european ancestry individuals//6,655 individuals(p-value = 4E-9 ;OR = 0.062). 0.4 Novel Genetic Variants for Cartilage Thickness and Hip Osteoarthritis. genome-wide association analysis NONHSAT101850.2 lncRNA Cartilage thickness measurement 0.33 TCCTAGTGAG(C > G)CTCATGACTG chr5: 68523125 0.6767,0.3233 0.67116622069317023,0.32883377930682976 Region score:0.39; TSS score:0.56; Unmatched score:0.57; Average GERP:-0.957359405940594 GeneName:AC010280.3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000249588; TranscriptID:ENST00000515504; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000757762; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000757763; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003053 28739976 NONHSAT215426.1 rs2898290 C N/A 150,134 european ancestry individuals; 87,359 european ancestry individuals//140,886 european and unknown ancestry individuals EFO_0000319 N/A Associate Systolic blood pressure rs2898290-C of NONHSAT215426.1 is significantly associated with the systolic blood pressure by using GWAS analysis in 150,134 european ancestry individuals; 87,359 european ancestry individuals//140,886 european and unknown ancestry individuals(p-value = 6E-8 ;OR = 0.39). 0.4 Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.LID - HYPERTENSIONAHA.117.09438 [pii]LID - 10.1161/HYPERTENSIONAHA.117.09438 [doi]AB - Elevated blood pressure genome-wide association analysis NONHSAT215426.1 lncRNA Cardiovascular disease 0.33 CCGGCCCCAG(T > C)GTTAGGAACC chr8: 11576400 0.6222,0.3778 0.52244202344546381,0.47755797655453618 Region score:0.36; TSS score:0.27; Unmatched score:0.7; Average GERP:-0.7101865346534654 GeneName:LINC00208; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000170983; TranscriptID:ENST00000304233; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003054 25918132 NONHSAT079144.2 rs7344105 G N/A 74 european ancestry cases//824 european ancestry controls EFO_0000270 N/A Associate Diisocyanate-induced asthma rs7344105-G of NONHSAT079144.2 is significantly associated with the diisocyanate-induced asthma by using GWAS analysis in 74 european ancestry cases//824 european ancestry controls(p-value = 2E-6 ;OR = 15.21). 0.4 Genome-Wide Association Study Identifies Novel Loci Associated With Diisocyanate-Induced Occupational Asthma. genome-wide association analysis NONHSAT079144.2 lncRNA Asthma 0.33 GGACCATGGC(A > G)GCTCCCAGGA chr20: 25245309 0.9311,0.06889 0.93032460499490316,0.06967539500509683 Region score:0.32; TSS score:0.53; Unmatched score:0.48; Average GERP:-0.04723366336633661 GeneName:AL121772.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000274414; TranscriptID:ENST00000618303; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PYGB; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000100994; TranscriptID:ENST00000216962; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003055 27863252 NONHSAT221416.1 rs8176759 A N/A 169,545 european ancestry individuals EFO_0007997 N/A Associate Granulocyte percentage of myeloid white cells rs8176759-A of NONHSAT221416.1 is significantly associated with the granulocyte percentage of myeloid white cells by using GWAS analysis in 169,545 european ancestry individuals(p-value = 4E-14 ;OR = 0.05503941). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT221416.1 lncRNA Granulocyte percentage of myeloid white cells 0.33 AAACATCATG(G > A)TATTGGCATA chr9: 133254260 0.847,0.153 0.88939060907237512,0.11060939092762487 Region score:0.18; TSS score:0.18; Unmatched score:0.15; Average GERP:0.1058510638297874 GeneName:ABO; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000175164; TranscriptID:ENST00000538324; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003056 26634245 NONHSAT064139.2 rs7249887 T N/A 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases EFO_0003892 N/A Associate Post bronchodilator fev1 in copd rs7249887-T of NONHSAT064139.2 is significantly associated with the post bronchodilator fev1 in copd by using GWAS analysis in 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases(p-value = 2E-6 ;OR = 0.145). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT064139.2 lncRNA Pulmonary function measurement 0.33 GCCAGTCTCC(C > T)CTGCCCATTC chr19: 31358462 0.7704,0.2296 0.82938328236493374,0.17061671763506625 Region score:0.37; TSS score:0.58; Unmatched score:0.27; Average GERP:-1.2227724752475244 GeneName:AC025809.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000267662; TranscriptID:ENST00000585336; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003057 28957384 NONHSAT172780.1 rs413117 ? N/A 1,421 european ancestry cases//154 hispanic/latino cases//121 east asian ancestry cases//81,843 european ancestry controls//8,406 hispanic/latino controls//7,397 east asian ancestry controls EFO_1002021 N/A Associate Ankle injury rs413117-? of NONHSAT172780.1 is significantly associated with the ankle injury by using GWAS analysis in 1,421 european ancestry cases//154 hispanic/latino cases//121 east asian ancestry cases//81,843 european ancestry controls//8,406 hispanic/latino controls//7,397 east asian ancestry controls(p-value = 3E-6 ;OR = 1.2232416). 0.4 Two genetic loci associated with ankle injury. genome-wide association analysis NONHSAT172780.1 lncRNA Ankle injury 0.33 CAGCCTGGCC(C > A)ACATGGTGAA chr16: 24099786 0.3682,0.6318 0.31137710244648318,0.68862289755351681 Region score:0.22; TSS score:0.14; Unmatched score:0.06; Average GERP:0.08002970297029707 GeneName:AC130448.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000279202; TranscriptID:ENST00000624179; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000534078; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PRKCB; CADD-Score:2; Consquence:intron; GeneID:ENSG00000166501; TranscriptID:ENST00000643927; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003058 21300955 NONHSAT191834.1 rs2836878 G N/A 63,678 european ancestry individuals 1,792 erasmus ruchpen individuals//715 orcadian individuals; 16,540 european ancestry individuals EFO_0000195 N/A Associate C-reactive protein levels rs2836878-G of NONHSAT191834.1 is significantly associated with the c-reactive protein levels by using GWAS analysis in 63,678 european ancestry individuals 1,792 erasmus ruchpen individuals//715 orcadian individuals; 16,540 european ancestry individuals(p-value = 2E-7 ;OR = 0.032). 0.4 Meta-analysis of genome-wide association studies in >80 000 subjects identifies multiple loci for C-reactive protein levels. genome-wide association analysis NONHSAT191834.1 lncRNA Metabolic syndrome 0.33 AGTTAAGAAC(G > A)GCTCATCCAG chr21: 39093608 0.7907,0.2093 0.77355695718654434,0.22644304281345565 Region score:0.28; TSS score:0.39; Unmatched score:0.14; Average GERP:-0.7416544554455443 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003059 29077507 NONHSAT187338.1 rs35520189 C N/A 677 african american women//544 african american men//115 asian women//113 asian men//1,825 european ancestry women//3,902 european ancestry men// 7,492 hispanic women//5,065 hispanic men EFO_0008568 N/A Associate Obstructive sleep apnea trait (apnea hypopnea index) rs35520189-C of NONHSAT187338.1 is significantly associated with the obstructive sleep apnea trait (apnea hypopnea index) by using GWAS analysis in 677 african american women//544 african american men//115 asian women//113 asian men//1,825 european ancestry women//3,902 european ancestry men// 7,492 hispanic women//5,065 hispanic men(p-value = 6E-7 ;OR = 0.052). 0.4 Multiethnic Meta-Analysis Identifies RAI1 as a Possible Obstructive Sleep Apnea-related Quantitative Trait Locus in Men. genome-wide association analysis NONHSAT187338.1 lncRNA Sleep disorder 0.33 ATCAGCTATA(A > C)AACTCTAACG chr2: 112861653 0.6891,0.3109 0.74239455912334352,0.25760544087665647 Region score:0.31; TSS score:0.07; Unmatched score:0; Average GERP:0 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003060 25197382 miRNA-1 rs9548934 T N/a 1013 coronary artery disease patients and 610 normal controls EFO_0000378 N/A Decreasing risk Coronary artery disease rs9548934-T of miRNA-1 and its dysfunction is significantly associated with the decreasing risk of coronary artery disease by using case-control analysis in 1013 coronary artery disease patients and 610 normal controls. 0.4 Polymorphism in miRNA-1 target site and circulating miRNA-1 phenotype are associated with the decreased risk and prognosis of coronary artery disease. case-control analysis hsa-mir-1-1 miRNA Coronary artery disease 0.33 TGACTCATTC(C > T)AATCACCTGC chr13: 39789504 N/A 0.99793737257900101,0.00206262742099898 Region score:0.45; TSS score:0.51; Unmatched score:0.61; Average GERP:0.04092 GeneName:COG6; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000133103; TranscriptID:ENST00000416691; AnnoType:3PRIME_UTR; mirSVR-Score:-0.0958; mirSVR-E:-17.67 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000479418; AnnoType:REGULATORY; mirSVR-Score:-0.0958; mirSVR-E:-17.67 | GeneName:RNY4P14; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000200526; TranscriptID:ENST00000363656; AnnoType:UPSTREAM; mirSVR-Score:-0.0958; mirSVR-E:-17.67 | NCRV0000003061 23478653 NONHSAT181360.1 rs13398721 ? N/A 139 individuals EFO_0004829 irinotecan and platinum-based chemotherapy Associate Response to irinotecan and platinum-based chemotherapy in non-small-cell lung cancer rs13398721-? of NONHSAT181360.1 is significantly associated with the response to irinotecan and platinum-based chemotherapy in non-small-cell lung cancer by using GWAS analysis in 139 individuals(p-value = 2E-7 ;OR = 7.1). 0.4 A genome-wide association study of survival in small-cell lung cancer patients treated with irinotecan plus cisplatin chemotherapy. genome-wide association analysis NONHSAT181360.1 lncRNA Response to irinotecan 0.33 ATCAGTCAAC(T > C)GCATGTGTAT chr2: 19429543 0.6538,0.3462 0.75614806320081549,0.24385193679918450 Region score:0.36; TSS score:0.37; Unmatched score:0.1; Average GERP:0.7386782178217823 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003062 21441570 NONHSAT153440.1 rs3007729 T N/A 973 european ancestry cases//1,856 european ancestry controls EFO_0003770 N/A Associate Diabetic retinopathy rs3007729-T of NONHSAT153440.1 is significantly associated with the diabetic retinopathy by using GWAS analysis in 973 european ancestry cases//1,856 european ancestry controls(p-value = 5E-6 ;OR = 1.35). 0.4 Genome-wide meta-analysis for severe diabetic retinopathy. genome-wide association analysis NONHSAT153440.1 lncRNA Diabetic retinopathy 0.33 ACCTCATTCC(T > C,G)TTTCTAGTGC chr1: 18468761 0.5541,0.4459,. 0.59739742609582059,0.40257868246687054,0.00002389143730886 Region score:0.27; TSS score:0.31; Unmatched score:0.14; Average GERP:-1.0813861386138615 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000349208; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003063 24550252 miR-146a rs2910164 G Dominant the same patient (n = 10) and primary cutaneous malignant melanoma and metastases from the same patient (n = 15) EFO_0000756 N/A increasing risk melanoma rs2910164-G of hsa-mir-146a and its dysfunction is significantly associated with the increasing risk of Melanoma by using case-control analysis in the same patient (n = 10) and primary cutaneous malignant melanoma and metastases from the same patient (n = 15) 1.4 miR-146a promotes the initiation and progression of melanoma by activating Notch signaling. case-control analysis hsa-mir-146a miRNA Melanoma 0.753 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 0 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003064 22778062 SNORD49B rs11871958 C N/A N/A function N/A significant changes in the structure function rs11871958-C of SNORD49B and its dysfunction having significant changes in the structure associated with function by using SNPfold prediction in nan 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD49B snoRNA function 0.049 CTGATGATAC(T > C,G)TGTAATAGGA chr17: 16439519 0.8492,0.1508,. 0.79693871049949031,0.20306128950050968,. Region score:0.24; TSS score:0.14; Unmatched score:0.86; Average GERP:-0.28122207920792075 GeneName:AC093484.4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000266651; TranscriptID:ENST00000585048; AnnoType:DOWNSTREAM; mirSVR-Score:-0.3456; mirSVR-E:-20.45 | GeneName:LRRC75A-AS1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000175061; TranscriptID:ENST00000497774; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.3456; mirSVR-E:-20.45 | GeneName:LRRC75A; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000181350; TranscriptID:ENST00000470794; AnnoType:DOWNSTREAM; mirSVR-Score:-0.3456; mirSVR-E:-20.45 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000091767; AnnoType:REGULATORY; mirSVR-Score:-0.3456; mirSVR-E:-20.45 | GeneName:SNORD49A; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277370; TranscriptID:ENST00000384229; AnnoType:UPSTREAM; mirSVR-Score:-0.3456; mirSVR-E:-20.45 | GeneName:SNORD49B; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000277108; TranscriptID:ENST00000365172; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.3456; mirSVR-E:-20.45 | GeneName:SNORD65; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277512; TranscriptID:ENST00000391079; AnnoType:UPSTREAM; mirSVR-Score:-0.3456; mirSVR-E:-20.45 | GeneName:TRPV2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000187688; TranscriptID:ENST00000338560; AnnoType:DOWNSTREAM; mirSVR-Score:-0.3456; mirSVR-E:-20.45 | NCRV0000003065 24024966 NONHSAT059073.2 rs346452 ? N/A up to 2,969 european ancestry individuals EFO_0000649 N/A Associate Periodontitis (pal4q3) rs346452-? of NONHSAT059073.2 is significantly associated with the periodontitis (pal4q3) by using GWAS analysis in up to 2,969 european ancestry individuals(p-value = 2E-6 ;OR = 1.32). 0.4 Genome-wide association study of chronic periodontitis in a general German population. genome-wide association analysis NONHSAT059073.2 lncRNA Periodontitis 0.33 TTTGATCAGT(G > A)TTATTTCTAC chr18: 42361001 0.5825,0.4175 0.60647617227319062,0.39352382772680937 Region score:0.32; TSS score:0.22; Unmatched score:0.05; Average GERP:-0.2807980198019802 GeneName:LINC00907; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000267586; TranscriptID:ENST00000593234; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003066 29235454 NONHSAT194637.1 rs11710845 ? N/A 56,819 european ancestry individuals//5,748 hispanic/latino individuals//5,119 east asian ancestry individuals//2,070 african american individuals; 37,930 european and asian ancestry individuals EFO_0004695 N/A Associate Intraocular pressure rs11710845-? of NONHSAT194637.1 is significantly associated with the intraocular pressure by using GWAS analysis in 56,819 european ancestry individuals//5,748 hispanic/latino individuals//5,119 east asian ancestry individuals//2,070 african american individuals; 37,930 european and asian ancestry individuals(p-value = 7E-9 ;OR = 0.09). 0.4 A large multi-ethnic genome-wide association study identifies novel genetic loci for intraocular pressure. genome-wide association analysis NONHSAT194637.1 lncRNA Intraocular pressure measurement 0.33 TCTTTGTGAA(C > T)CAAATACTAC chr3: 150347493 0.8744,0.1256 0.82284499235474006,0.17715500764525993 Region score:0.55; TSS score:0.7; Unmatched score:0.47; Average GERP:1.2183564356435639 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000160128; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003067 25944848 NONHSAT165944.1 rs17066873 C N/A up to 185 european ancestry cases EFO_0003761 N/A Associate Pharmacokinetics of antiepileptic drugs in severe mental disorder (concentration drug ratio) rs17066873-C of NONHSAT165944.1 is significantly associated with the pharmacokinetics of antiepileptic drugs in severe mental disorder (concentration drug ratio) by using GWAS analysis in up to 185 european ancestry cases(p-value = 2E-7 ;OR = 0.9277). 0.4 Genome-wide association study identifies common variants associated with pharmacokinetics of psychotropic drugs. genome-wide association analysis NONHSAT165944.1 lncRNA Unipolar depression 0.33 CTAATGATGG(T > C)CATTGCTAAT chr13: 76889874 0.9461,0.05391 0.94641150611620795,0.05358849388379204 Region score:0.42; TSS score:0.52; Unmatched score:0.29; Average GERP:-0.2957425742574257 GeneName:AC000403.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000278727; TranscriptID:ENST00000613696; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:KCTD12; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000178695; TranscriptID:ENST00000377474; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000485528; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003068 26634245 NONHSAT198812.1 rs1812329 A N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs1812329-A of NONHSAT198812.1 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 1E-12 ;OR = 0.062). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT198812.1 lncRNA Pulmonary function measurement 0.33 GGGATTACAG(G > A)TGTGAGTCAC chr4: 88948767 0.5196,0.4804 0.52785741590214067,0.47214258409785932 Region score:0.23; TSS score:0.09; Unmatched score:0.02; Average GERP:-0.12733333333333346 GeneName:FAM13A; CADD-Score:2; Consquence:intron; GeneID:ENSG00000138640; TranscriptID:ENST00000264344; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003069 27713147 miR-124-1 rs531564 G N/a 1358 0-iii stage resected crc patients and 1079 healthy controls EFO_0005842 N/A Poor prognosis Colorectal cancer rs531564-G of miR-124-1 and its dysfunction is significantly associated with the poor prognosis of colorectal cancer by using case-control analysis in 1358 0-III stage resected CRC patients and 1079 healthy controls. 0.4 MiR-608, pre-miR-124-1 and pre-miR26a-1 polymorphisms modify susceptibility and recurrence-free survival in surgically resected CRC individuals. case-control analysis hsa-mir-124-1 miRNA Colorectal cancer 0.33 CCCTGAGTCT(G > C)TTTGCATCTC chr8: 9903189 0.87,0.13 0.86338079765545361,0.13661920234454638 Region score:0.48; TSS score:0.58; Unmatched score:0.92; Average GERP:0.641257425742574 GeneName:LINC00599; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253230; TranscriptID:ENST00000517675; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR124-1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000284321; TranscriptID:ENST00000385275; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000847381; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003070 29228715 NONHSAT174160.1 rs9929215 ? N/A 978 austrian ancestry colorectal cancer cases//636 austrian ancestry advanced colorectal adenoma cases//4,294 european ancestry controls EFO_0005842 N/A Associate Colorectal cancer rs9929215-? of NONHSAT174160.1 is significantly associated with the colorectal cancer by using GWAS analysis in 978 austrian ancestry colorectal cancer cases//636 austrian ancestry advanced colorectal adenoma cases//4,294 european ancestry controls(p-value = 3E-6 ;OR = 1.767). 0.4 Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas. genome-wide association analysis NONHSAT174160.1 lncRNA Colorectal cancer 0.33 AAGTCCGAAA(G > A,C)GTGATGAAGG chr16: 86487884 0.9293,.,0.07069 0.92074413863404689,0.00002389143730886,0.07923196992864424 Region score:0.25; TSS score:0.28; Unmatched score:0.24; Average GERP:-1.4855044554455443 GeneName:FENDRR; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000268388; TranscriptID:ENST00000595886; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003071 25760438 NONHSAT167653.1 rs11454281 ? N/A 89 martu australian aboriginal ancestry cases//302 martu australian aboriginal ancestry controls EFO_0001360 N/A Associate Type 2 diabetes rs11454281-? of NONHSAT167653.1 is significantly associated with the type 2 diabetes by using GWAS analysis in 89 martu australian aboriginal ancestry cases//302 martu australian aboriginal ancestry controls(p-value = 9E-6 ;OR = 0.6). 0.4 First genome-wide association study in an Australian aboriginal population provides insights into genetic risk factors for body mass index and type 2 diabetes. genome-wide association analysis NONHSAT167653.1 lncRNA Type ii diabetes mellitus 0.33 AATGGGGGGG(G > GT)TTAATTACAA chr13: 64920644 N/A 0.99990443425076452,0.00009556574923547 N/A GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003072 23934736 NONHSAT188403.1 rs6085533 A N/A 1,260 african american individuals EFO_0005276 N/A Associate Metabolite levels (x-11787) rs6085533-A of NONHSAT188403.1 is significantly associated with the metabolite levels (x-11787) by using GWAS analysis in 1,260 african american individuals(p-value = 1E-6 ;OR = 0.04). 0.4 Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study. genome-wide association analysis NONHSAT188403.1 lncRNA Hydroxy-leucine measurement 0.33 TTCCAGAGGA(T > A)GGAAGACCAC chr20: 6394813 0.738,0.262 0.71115252293577981,0.28884747706422018 Region score:0.36; TSS score:0.2; Unmatched score:0; Average GERP:0.05634257425742575 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003073 24447667 miR-196a2 rs11614913 T N/a 295 coronary artery disease patients and 283 controls in a chinese population EFO_0000378 N/A No significance for risk Coronary artery disease rs11614913-T of miR-196a2 and its dysfunction is not significantly associated with coronary artery disease by using case-control analysis in 295 coronary artery disease patients and 283 controls in a Chinese population. -0.4 A common variant in pre-miR-146 is associated with coronary artery disease risk and its mature miRNA expression. case-control analysis hsa-mir-196a-2 miRNA Coronary artery disease 0 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003073 22159951 mir-196a2 rs11614913 C Dominant 956 cad patients diagnosed by coronary arterial angiography and 620 controls EFO_0000378 N/A Poor prognosis Coronary artery disease rs11614913-C of mir-196a2 and its dysfunction is significantly associated with the poor prognosis of coronary artery disease by using case-control analysis in 956 CAD patients diagnosed by coronary arterial angiography and 620 controls. 0.4 Polymorphisms of miRNAs genes are associated with the risk and prognosis of coronary artery disease. case-control analysis hsa-mir-196a-2 miRNA Coronary artery disease 0 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003074 21743469 NONHSAT001678.2 rs11249215 A N/A 3,023 european ancestry cases//8,779 european ancestry controls; 2,111 european ancestry cases//4,483 european ancestry controls EFO_0003898 N/A Associate Ankylosing spondylitis rs11249215-A of NONHSAT001678.2 is significantly associated with the ankylosing spondylitis by using GWAS analysis in 3,023 european ancestry cases//8,779 european ancestry controls; 2,111 european ancestry cases//4,483 european ancestry controls(p-value = 9E-11 ;OR = ?). 0.4 Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility. genome-wide association analysis NONHSAT001678.2 lncRNA Ankylosing spondylitis 0.33 GCCACATCCC(G > A)TCGTGTCCCC chr1: 24970693 0.5192,0.4808 0.56735792558613659,0.43264207441386340 Region score:0.39; TSS score:0.53; Unmatched score:0.49; Average GERP:-0.47237356435643585 GeneName:AL445471.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000261025; TranscriptID:ENST00000568143; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000351035; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003075 27863252 NONHSAT026062.2 rs10466905 A N/A 172,435 european ancestry individuals EFO_0004308 N/A Associate White blood cell count rs10466905-A of NONHSAT026062.2 is significantly associated with the white blood cell count by using GWAS analysis in 172,435 european ancestry individuals(p-value = 3E-18 ;OR = 0.0399174). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT026062.2 lncRNA Leukocyte count 0.33 TTTTAACTTA(G > A)TCACCTCTTT chr12: 6393666 0.8299,0.1701 0.80079319571865443,0.19920680428134556 Region score:0.23; TSS score:0.09; Unmatched score:0.28; Average GERP:-0.08750792079207921 GeneName:AC005840.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000256433; TranscriptID:ENST00000541888; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LTBR; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000111321; TranscriptID:ENST00000228918; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000048298; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003076 22823124 NONHSAT176778.1 rs9900808 A N/A 10,091 individuals from 4,622 families EFO_0003890 N/A Associate Cannabis use (initiation) rs9900808-A of NONHSAT176778.1 is significantly associated with the cannabis use (initiation) by using GWAS analysis in 10,091 individuals from 4,622 families(p-value = 2E-6 ;OR = 0.082). 0.4 The genetic aetiology of cannabis use initiation: a meta-analysis of genome-wide association studies and a SNP-based heritability estimation. genome-wide association analysis NONHSAT176778.1 lncRNA Drug dependence 0.33 ATTTTCCAAT(G > A)CAACTTGCAA chr17: 13159478 0.9339,0.06609 0.93987321610601427,0.06012678389398572 Region score:0.35; TSS score:0.18; Unmatched score:0.06; Average GERP:-0.3473831683168317 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003077 26257337 pri-miR-107 rs2296616 G N/A 1041 patients with SCZ (531 males and 510 females; mean age: 33.65?卤?9.14years) and 953 healthy controls (512 males and 441 females; mean age: 34.47?卤?10.49 years) in the chinese population EFO_0000692 N/A no significance for risk schizophrenia rs2296616-G of hsa-mir-107 and its dysfunction is not significantly associated with Schizophrenia by using case-control analysis in 1041 patients with SCZ (531 males and 510 females; mean age: 33.65?卤?9.14years) and 953 healthy controls (512 males and 441 females; mean age: 34.47?卤?10.49 years) in the chinese population -0.4 Polymorphisms in MicroRNA Genes And Genes Involving in NMDAR Signaling and Schizophrenia: A Case-Control Study in Chinese Han Population. case-control analysis hsa-mir-107 miRNA Schizophrenia -0.33 CATTCAACGC(G > A,C)CACATCCGAG chr10: 89593209 0.2975,0.7025,. 0.37211709989806320,0.62597158511722731,0.00191131498470948 Region score:0.51; TSS score:0.29; Unmatched score:0.51; Average GERP:3.0697495049504924 GeneName:MIR107; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000198997; TranscriptID:ENST00000362127; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PANK1; CADD-Score:5; Consquence:synonymous; GeneID:ENSG00000152782; TranscriptID:ENST00000307534; AnnoType:SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PANK1; CADD-Score:7; Consquence:missense; GeneID:ENSG00000152782; TranscriptID:ENST00000307534; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003078 26089329 NONHSAT165076.1 rs248812 A N/A up to 1,592 african american cases//up to 13,154 african american controls EFO_0000712 N/A Associate Stroke rs248812-A of NONHSAT165076.1 is significantly associated with the stroke by using GWAS analysis in up to 1,592 african american cases//up to 13,154 african american controls(p-value = 9E-7 ;OR = 0.26). 0.4 Meta-Analysis of Genome-Wide Association Studies Identifies Genetic Risk Factors for Stroke in African Americans. genome-wide association analysis NONHSAT165076.1 lncRNA Stroke 0.33 GATGGAAAGA(C > A)AAAAAGAGGA chr12: 97667368 0.3045,0.6955 0.25657810907237512,0.74342189092762487 Region score:0.24; TSS score:0.08; Unmatched score:0.03; Average GERP:-0.5939316831683169 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003079 27863252 NONHSAT164108.1 rs3833788 C N/A 172,332 european ancestry individuals EFO_0004527 N/A Associate Mean corpuscular hemoglobin rs3833788-C of NONHSAT164108.1 is significantly associated with the mean corpuscular hemoglobin by using GWAS analysis in 172,332 european ancestry individuals(p-value = 3E-39 ;OR = 0.04751259). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT164108.1 lncRNA Mean corpuscular hemoglobin 0.33 GTTGGTTTCT(CTCTCTTG > C)TCTCTTGTTT chr12: 120713259 0.6569,0.3431 0.63846680682976554,0.36153319317023445 N/A GeneName:AC069234.4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000276188; TranscriptID:ENST00000621276; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:UNC119B; CADD-Score:5; Consquence:splice,intron; GeneID:ENSG00000175970; TranscriptID:ENST00000344651; AnnoType:SPLICE_SITE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003080 27989323 NONHSAT156589.1 rs9423654 G N/A 3,677 finnish ancestry individuals EFO_0005140 N/A Associate Interleukin-2 receptor antagonist levels rs9423654-G of NONHSAT156589.1 is significantly associated with the interleukin-2 receptor antagonist levels by using GWAS analysis in 3,677 finnish ancestry individuals(p-value = 2E-6 ;OR = 0.1357). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. genome-wide association analysis NONHSAT156589.1 lncRNA Autoimmune disease 0.33 CGTCAGGTCC(C > A,G,T)CCTCACAGAC chr10: 5563371 0.5994,.,0.4006,. 0.46000573394495412,0.13092507645259938,0.40906122579001019,0.00000796381243628 Region score:0.25; TSS score:0.39; Unmatched score:0.3; Average GERP:-0.2253514851485149 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003081 26252872 NONHSAT151238.1 rs78649275 T N/A 472 european ancestry cases//47 cases HP_0100543 N/A Associate Cognitive decline rate in late mild cognitive impairment rs78649275-T of NONHSAT151238.1 is significantly associated with the cognitive decline rate in late mild cognitive impairment by using GWAS analysis in 472 european ancestry cases//47 cases(p-value = 4E-8 ;OR = 0.5951). 0.4 Variations in the FRA10AC1 Fragile Site and 15q21 Are Associated with Cerebrospinal Fluid Abeta1-42 Level. genome-wide association analysis NONHSAT151238.1 lncRNA Cognitive impairment 0.33 TTGATTCCTG(T > C)GGAAAATCTA chr1: 21150540 0.9968,0.003195 0.99503058103975535,0.00496941896024464 Region score:0.24; TSS score:0.32; Unmatched score:0.32; Average GERP:-0.08977128712871278 GeneName:EIF4G3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000075151; TranscriptID:ENST00000400422; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000002694; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003082 18846501 NONHSAT217877.1 rs4875598 G N/A 909 european ancestry trios EFO_0003888 N/A Associate Attention deficit hyperactivity disorder symptoms (maternal expressed emotions interaction) rs4875598-G of NONHSAT217877.1 is significantly associated with the attention deficit hyperactivity disorder symptoms (maternal expressed emotions interaction) by using GWAS analysis in 909 european ancestry trios(p-value = 9E-6 ;OR = 0.94). 0.4 Does parental expressed emotion moderate genetic effects in ADHD? An exploration using a genome wide association scan. genome-wide association analysis NONHSAT217877.1 lncRNA Attention deficit hyperactivity disorder 0.33 TGTTCAAGAA(G > A,C)AAAAGATGTC chr8: 5604231 0.3612,0.6388,. 0.34974675076452599,0.65000637104994903,0.00024687818552497 Region score:0.26; TSS score:0.17; Unmatched score:0.06; Average GERP:-1.1117821782178219 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003083 26025128 NONHSAT188258.1 rs7599706 ? N/A 489 european ancestry children EFO_0007591 in asthma (oral corticosteroid dose interaction) Associate Bone mineral accretion rs7599706-? of NONHSAT188258.1 is significantly associated with the bone mineral accretion by using GWAS analysis in 489 european ancestry children(p-value = 4E-8 ;OR = ?). 0.4 Genetic risk factors for decreased bone mineral accretion in children with asthma receiving multiple oral corticosteroid bursts. genome-wide association analysis NONHSAT188258.1 lncRNA Bone mineral accretion measurement 0.33 CTTTAAGATT(T > G)GTAGGAGAAA chr2: 236897044 0.854,0.146 0.88763857033639143,0.11236142966360856 Region score:0.48; TSS score:0.23; Unmatched score:0.09; Average GERP:-1.1110227722772281 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003084 23740937 NONHSAT174663.1 rs12711490 ? N/A up to 2,761 european ancestry systemic sclerosis cases//769 european ancestry systemic lupus erythematosus cases//7,381 european ancestry controls; up to 1,578 european ancestry systemic sclerosis cases//1,727 european ancestry systemic lupus erythematosus cases//6,893 european ancestry controls EFO_0000717 N/A Associate Systemic lupus erythematosus and systemic sclerosis rs12711490-? of NONHSAT174663.1 is significantly associated with the systemic lupus erythematosus and systemic sclerosis by using GWAS analysis in up to 2,761 european ancestry systemic sclerosis cases//769 european ancestry systemic lupus erythematosus cases//7,381 european ancestry controls; up to 1,578 european ancestry systemic sclerosis cases//1,727 european ancestry systemic lupus erythematosus cases//6,893 european ancestry controls(p-value = 3E-10 ;OR = 1.28). 0.4 A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci. genome-wide association analysis NONHSAT174663.1 lncRNA Systemic scleroderma 0.33 TTCAGTTGTT(T > C)TGATGGCCTA chr16: 85939422 0.893,0.107 0.82944699286442405,0.17055300713557594 Region score:0.24; TSS score:0.34; Unmatched score:0.13; Average GERP:-0.7914188118811881 GeneName:AC092723.5; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000285163; TranscriptID:ENST00000646986; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LINC02132; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000268804; TranscriptID:ENST00000598933; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003085 19801982 NONHSAT153491.1 rs6426749 C N/A 19,195 european ancestry individuals EFO_0007702 N/A Associate Bone mineral density (hip) rs6426749-C of NONHSAT153491.1 is significantly associated with the bone mineral density (hip) by using GWAS analysis in 19,195 european ancestry individuals(p-value = 9E-8 ;OR = 0.08). 0.4 Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies. genome-wide association analysis NONHSAT153491.1 lncRNA Hip bone mineral density 0.33 GGCTGCTGAG(G > C)TCCAGGCCAA chr1: 22384980 0.7853,0.2147 0.79774305555555555,0.20225694444444444 Region score:0.42; TSS score:0.3; Unmatched score:0.08; Average GERP:-1.058940594059406 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003086 27863252 NONHSAT217919.1 rs1864585 G N/A 171,542 european ancestry individuals EFO_0007990 N/A Associate Neutrophil percentage of white cells rs1864585-G of NONHSAT217919.1 is significantly associated with the neutrophil percentage of white cells by using GWAS analysis in 171,542 european ancestry individuals(p-value = 8E-12 ;OR = 0.02791705). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT217919.1 lncRNA Neutrophil percentage of leukocytes 0.33 TGCCGGGCAG(A > G)ACCACCCTGT chr8: 10875395 0.1855,0.8145 0.22642711518858307,0.77357288481141692 Region score:0.19; TSS score:0.31; Unmatched score:0.18; Average GERP:-1.5879091089108908 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003087 27863252 NONHSAT179793.1 rs7412 T N/A 170,763 european ancestry individuals EFO_0007986 N/A Associate High light scatter reticulocyte count rs7412-T of NONHSAT179793.1 is significantly associated with the high light scatter reticulocyte count by using GWAS analysis in 170,763 european ancestry individuals(p-value = 1E-35 ;OR = 0.08121525). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT179793.1 lncRNA Reticulocyte count 0.33 CCTGCAGAAG(C > T)GCCTGGCAGT chr19: 44908822 0.9249,0.07508 0.91786123853211009,0.08213876146788990 Region score:0.36; TSS score:0.39; Unmatched score:0.61; Average GERP:1.2422673267326734 GeneName:AC011481.3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000280087; TranscriptID:ENST00000623895; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:APOE; CADD-Score:7; Consquence:missense; GeneID:ENSG00000130203; TranscriptID:ENST00000252486; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003088 27328823 mir-320e rs10423365 G N/A 17,008 AD cases and 37,154 controls EFO_0000249 N/A decreasing risk Alzheimer's disease rs10423365-G of hsa-mir-320e and its dysfunction is significantly associated with the decreasing risk of Alzheimers disease by using case-control analysis in 17,008 AD cases and 37,154 controls 0.4 Genome-wide identification of microRNA-related variants associated with risk of Alzheimer's disease. case-control analysis hsa-mir-320e miRNA Alzheimers disease 0.33 AAGAACTGGG(A > G,T)AGAGAAGGCC chr19: 46709336 0.5391,0.4609,. 0.50600471457696228,0.49397139398572884,0.00002389143730886 Region score:0.41; TSS score:0.03; Unmatched score:0.39; Average GERP:0.13006930693069296 GeneName:MIR320E; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000211513; TranscriptID:ENST00000390179; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PRKD2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000105287; TranscriptID:ENST00000433867; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003089 27989323 NONHSAT212681.1 rs143319329 C N/A 3,309 finnish ancestry individuals EFO_0005140 N/A Associate Interleukin-1-beta levels rs143319329-C of NONHSAT212681.1 is significantly associated with the interleukin-1-beta levels by using GWAS analysis in 3,309 finnish ancestry individuals(p-value = 2E-6 ;OR = 0.2801). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. genome-wide association analysis NONHSAT212681.1 lncRNA Autoimmune disease 0.33 CAGGCTGGAG(C > G,T)GCAATGGCGC chr7: 128499405 0.9103,.,0.08966 0.95797496177370030,0.00014334862385321,0.04188168960244648 Region score:0.19; TSS score:0.06; Unmatched score:0.02; Average GERP:0.044950495049504935 GeneName:METTL2B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000165055; TranscriptID:ENST00000262432; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003090 22558069 NONHSAT174827.1 rs3803800 A N/A up to 9,103 japanese ancestry individuals; up to 1,629 japanese ancestry individuals EFO_0004568 N/A Associate Non-albumin protein levels rs3803800-A of NONHSAT174827.1 is significantly associated with the non-albumin protein levels by using GWAS analysis in up to 9,103 japanese ancestry individuals; up to 1,629 japanese ancestry individuals(p-value = 7E-15 ;OR = 0.104). 0.4 Association of common variants in TNFRSF13B, TNFSF13, and ANXA3 with serum levels of non-albumin protein and immunoglobulin isotypes in Japanese. genome-wide association analysis NONHSAT174827.1 lncRNA Serum non-albumin protein measurement 0.33 GCCTGGGAGA(A > G)TGGGGAGAGA chr17: 7559652 0.4403,0.5597 0.36584957951070336,0.63415042048929663 Region score:0.25; TSS score:0.39; Unmatched score:0.76; Average GERP:1.9282871287128722 GeneName:AC016876.3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000276384; TranscriptID:ENST00000610459; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000090876; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000548551; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SENP3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000161956; TranscriptID:ENST00000321337; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SENP3-EIF4A1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277957; TranscriptID:ENST00000614237; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TNFSF12; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000239697; TranscriptID:ENST00000293825; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TNFSF12-TNFSF13; CADD-Score:7; Consquence:missense; GeneID:ENSG00000248871; TranscriptID:ENST00000293826; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TNFSF13; CADD-Score:7; Consquence:missense; GeneID:ENSG00000161955; TranscriptID:ENST00000338784; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003091 22778062 SNORA46 rs78103641 A N/A N/A function N/A not significant changes in the structure function rs78103641-A of SNORA46 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in nan -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORA46 snoRNA function -0.049 GAGCCATGTT(C > T)CTTAACTCTA chr16: 58548506 0.973,0.02696 0.98752866972477064,0.01247133027522935 Region score:0.56; TSS score:0.33; Unmatched score:0.55; Average GERP:1.2501732673267327 GeneName:CNOT1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000125107; TranscriptID:ENST00000317147; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000086586; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORA46; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207493; TranscriptID:ENST00000384762; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003092 27863252 NONHSAT180243.1 rs2285627 C N/A 171,846 european ancestry individuals EFO_0005090 N/A Associate White blood cell count (basophil) rs2285627-C of NONHSAT180243.1 is significantly associated with the white blood cell count (basophil) by using GWAS analysis in 171,846 european ancestry individuals(p-value = 1E-9 ;OR = 0.02261553). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT180243.1 lncRNA Basophil count 0.33 GTCAGCTGCT(T > C,G)GGGGCTCCCA chr19: 19357128 0.4329,0.5671,. 0.40625000000000000,0.59373407237512742,0.00001592762487257 Region score:0.37; TSS score:0.63; Unmatched score:0.67; Average GERP:-0.11564717821782176 GeneName:MAU2; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000129933; TranscriptID:ENST00000262815; AnnoType:3PRIME_UTR; mirSVR-Score:-0.0391; mirSVR-E:-20.45 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000108227; AnnoType:REGULATORY; mirSVR-Score:-0.0391; mirSVR-E:-20.45 | NCRV0000003093 21946350 NONHSAT206941.1 rs1928168 T N/A 48,201 european ancestry individuals; 46,411 european ancestry individuals EFO_0003892 N/A Associate Pulmonary function rs1928168-T of NONHSAT206941.1 is significantly associated with the pulmonary function by using GWAS analysis in 48,201 european ancestry individuals; 46,411 european ancestry individuals(p-value = 2E-7 ;OR = 0.028). 0.4 Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function. genome-wide association analysis NONHSAT206941.1 lncRNA Pulmonary function measurement 0.451 AGGAGGGGAA(T > C)TGAGTGTGAG chr6: 22017509 0.7047,0.2953 0.65780294342507645,0.34219705657492354 Region score:0.25; TSS score:0.22; Unmatched score:0.06; Average GERP:0.001175148514851498 GeneName:CASC15; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000272168; TranscriptID:ENST00000444265; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000785595; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003093 23284291 NONHSAT206941.1 rs1928168 T N/A 50,047 european ancestry individuals EFO_0003892 smoking interaction Associate Pulmonary function (smoking interaction) rs1928168-T of NONHSAT206941.1 is significantly associated with the pulmonary function (smoking interaction) by using GWAS analysis in 50,047 european ancestry individuals(p-value = 2E-7 ;OR = ?). 0.4 Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function. genome-wide association analysis NONHSAT206941.1 lncRNA Pulmonary function measurement 0.451 AGGAGGGGAA(T > C)TGAGTGTGAG chr6: 22017509 0.7047,0.2953 0.65780294342507645,0.34219705657492354 Region score:0.25; TSS score:0.22; Unmatched score:0.06; Average GERP:0.001175148514851498 GeneName:CASC15; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000272168; TranscriptID:ENST00000444265; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000785595; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003094 27723756 NONHSAT174436.1 rs1362404 T N/A 1,812 european ancestry individuals EFO_0007874 bacterial taxa Associate Gut microbiota (bacterial taxa) rs1362404-T of NONHSAT174436.1 is significantly associated with the gut microbiota (bacterial taxa) by using GWAS analysis in 1,812 european ancestry individuals(p-value = 2E-8 ;OR = 0.23). 0.4 Genome-wide association analysis identifies variation in vitamin D receptor and other host factors influencing the gut microbiota. genome-wide association analysis NONHSAT174436.1 lncRNA Gut microbiome measurement 0.33 AGCCAAACTT(G > T)ATTTCATCCT chr16: 51973264 0.4389,0.5611 0.44356842507645259,0.55643157492354740 Region score:0.36; TSS score:0.15; Unmatched score:0.03; Average GERP:-1.114339801980198 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003095 28240269 NONHSAT161847.1 rs2255336 T N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0008250 N/A Associate Blood protein levels rs2255336-T of NONHSAT161847.1 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 1E-13 ;OR = 0.3993). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. genome-wide association analysis NONHSAT161847.1 lncRNA Nkg2-d type ii integral membrane protein measurement 0.33 CTCCATATTG(T > C)TACCATAATA chr12: 10379727 0.2376,0.7624 0.26337920489296636,0.73662079510703363 Region score:0.25; TSS score:0.65; Unmatched score:0.69; Average GERP:0.5128514851485148 GeneName:AC022075.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000245648; TranscriptID:ENST00000500682; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:KLRC4-KLRK1; CADD-Score:2; Consquence:NMD,3_prime_UTR; GeneID:ENSG00000255819; TranscriptID:ENST00000539300; AnnoType:3PRIME_UTR; mirSVR-Score:NA; mirSVR-E:NA | GeneName:KLRK1; CADD-Score:7; Consquence:missense; GeneID:ENSG00000213809; TranscriptID:ENST00000240618; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003096 25574825 NONHSAT003779.2 rs11209026 ? N/A 2,079 european ancestry atopic dermatitis cases//4,212 european ancestry psoriasis cases//11,899 european ancestry controls EFO_0000676 N/A Associate Inflammatory skin disease rs11209026-? of NONHSAT003779.2 is significantly associated with the inflammatory skin disease by using GWAS analysis in 2,079 european ancestry atopic dermatitis cases//4,212 european ancestry psoriasis cases//11,899 european ancestry controls(p-value = 2E-10 ;OR = ?). 0.4 Genome-wide comparative analysis of atopic dermatitis and psoriasis gives insight into opposing genetic mechanisms. genome-wide association analysis NONHSAT003779.2 lncRNA Psoriasis 0.451 AGATCATTCC(G > A)AACTGGGTAG chr1: 67240275 0.9772,0.02276 0.95546636085626911,0.04453363914373088 Region score:0.42; TSS score:0.36; Unmatched score:0.6; Average GERP:1.6307445544554449 GeneName:IL23R; CADD-Score:7; Consquence:missense; GeneID:ENSG00000162594; TranscriptID:ENST00000347310; AnnoType:NON_SYNONYMOUS; mirSVR-Score:-1.3115; mirSVR-E:-14.41 | NCRV0000003096 20953190 NONHSAT003779.2 rs11209026 ? N/A 2,178 european ancestry cases//5,175 european ancestry controls; 3,174 european ancestry cases//5,464 european ancestry controls EFO_0000676 N/A Associate Psoriasis rs11209026-? of NONHSAT003779.2 is significantly associated with the psoriasis by using GWAS analysis in 2,178 european ancestry cases//5,175 european ancestry controls; 3,174 european ancestry cases//5,464 european ancestry controls(p-value = 7E-7 ;OR = 1.49). 0.4 A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1. genome-wide association analysis NONHSAT003779.2 lncRNA Psoriasis 0.451 AGATCATTCC(G > A)AACTGGGTAG chr1: 67240275 0.9772,0.02276 0.95546636085626911,0.04453363914373088 Region score:0.42; TSS score:0.36; Unmatched score:0.6; Average GERP:1.6307445544554449 GeneName:IL23R; CADD-Score:7; Consquence:missense; GeneID:ENSG00000162594; TranscriptID:ENST00000347310; AnnoType:NON_SYNONYMOUS; mirSVR-Score:-1.3115; mirSVR-E:-14.41 | NCRV0000003097 26973201 miR-423 rs6505162 A Dominant 575 patients with lung cancer and 608 healthy controls EFO_0001071 N/A Decreasing risk Lung cancer rs6505162-A of miR-423 and its dysfunction is significantly associated with the decreasing risk of lung cancer by using case-control analysis in 575 patients with lung cancer and 608 healthy controls . 0.4 Association between polymorphisms in pre-miRNA genes and risk of lung cancer in a Chinese non-smoking female population. case-control analysis hsa-mir-423 miRNA Lung cancer 0.33 TTGCTTCCTA(A > C,T)CCCGCGCTTG chr17: 30117165 0.5022,0.4978,. 0.57055937818552497,0.42940876656472986,0.00003185524974515 Region score:0.43; TSS score:0.32; Unmatched score:0.93; Average GERP:3.269841584158416 GeneName:AC104984.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000265394; TranscriptID:ENST00000582938; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC104984.5; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000266919; TranscriptID:ENST00000586878; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3184; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284399; TranscriptID:ENST00000637796; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR423; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000283935; TranscriptID:ENST00000362201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000092957; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NSRP1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000126653; TranscriptID:ENST00000247026; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003098 26007630 NONHSAT176810.1 rs57968458 A N/A 2,194 european ancestry cases//222,555 european ancestry controls; 586 european ancestry cases//2,111 european ancestry controls EFO_0001378 N/A Associate Multiple myeloma rs57968458-A of NONHSAT176810.1 is significantly associated with the multiple myeloma by using GWAS analysis in 2,194 european ancestry cases//222,555 european ancestry controls; 586 european ancestry cases//2,111 european ancestry controls(p-value = 6E-11 ;OR = 0.36). 0.4 Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma. genome-wide association analysis NONHSAT176810.1 lncRNA Multiple myeloma 0.33 TTGGTTGAGC(G > A)CTGCTGGTGT chr17: 16916785 0.7786,0.2214 0.84057243883792048,0.15942756116207951 Region score:0.29; TSS score:0.27; Unmatched score:0.2; Average GERP:-0.1503762376237623 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000282609; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003099 28928442 NONHSAT174445.1 rs113428591 ? N/A 60,098 european ancestry cases//113,323 european ancestry controls EFO_0007924 N/A Associate Tonsillectomy rs113428591-? of NONHSAT174445.1 is significantly associated with the tonsillectomy by using GWAS analysis in 60,098 european ancestry cases//113,323 european ancestry controls(p-value = 2E-7 ;OR = 0.0614). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. genome-wide association analysis NONHSAT174445.1 lncRNA Tonsillectomy risk measurement 0.33 GACAAGCACT(TCTG > T)CTGCTCAGTT chr16: 54277490 0.8832,0.1168 0.86134206167176350,0.13865793832823649 N/A GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000537927; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003100 28928442 NONHSAT159991.1 rs199527622 ? N/A 46,936 european ancestry cases//74,874 european ancestry controls EFO_0007904 N/A Associate Childhood ear infection rs199527622-? of NONHSAT159991.1 is significantly associated with the childhood ear infection by using GWAS analysis in 46,936 european ancestry cases//74,874 european ancestry controls(p-value = 7E-6 ;OR = 0.1084). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. genome-wide association analysis NONHSAT159991.1 lncRNA Susceptibility to childhood ear infection measurement 0.33 TGAGAAGCAG(C > CG)GGGACGGCGG chr11: 1336641 0.9902,0.009784 0.98131689602446483,0.01868310397553516 N/A GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003101 25673413 NONHSAT211355.1 rs9364687 G N/A up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals EFO_0001073 N/A Associate Body mass index rs9364687-G of NONHSAT211355.1 is significantly associated with the body mass index by using GWAS analysis in up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals(p-value = 9E-7 ;OR = 0.02). 0.4 Genetic studies of body mass index yield new insights for obesity biology. genome-wide association analysis NONHSAT211355.1 lncRNA Obesity 0.33 CAACAAGAGC(G > T)CATCAGAAAC chr6: 163396879 0.6128,0.3872 0.67202631243628950,0.32797368756371049 Region score:0.52; TSS score:0.61; Unmatched score:0.63; Average GERP:1.5582693069306925 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003102 26198764 NONHSAT141673.2 rs12691307 A N/A 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls EFO_0000692 N/A Associate Schizophrenia rs12691307-A of NONHSAT141673.2 is significantly associated with the schizophrenia by using GWAS analysis in 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls(p-value = 2E-10 ;OR = 1.07). 0.4 Genome-wide association study of schizophrenia in Ashkenazi Jews. genome-wide association analysis NONHSAT141673.2 lncRNA Schizophrenia 0.451 AAGTGCAATG(A > G)CACGATCTCG chr16: 29928556 0.5521,0.4479 0.50923802242609582,0.49076197757390417 Region score:0.42; TSS score:0.13; Unmatched score:0.35; Average GERP:0.0352079207920792 GeneName:AC120114.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000247735; TranscriptID:ENST00000450909; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:KCTD13; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000174943; TranscriptID:ENST00000568000; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003102 25056061 NONHSAT141673.2 rs12691307 A N/A 32,405 european ancestry cases//42,221 european ancestry controls//1,235 european ancestry cases and 1,235 european ancestry controls from 1235 parent-offspring trios//1,836 east asian ancestry cases//3,383 east asian ancestry controls; 1,513 european ancestry cases//66,236 european ancestry controls EFO_0000692 N/A Associate Schizophrenia rs12691307-A of NONHSAT141673.2 is significantly associated with the schizophrenia by using GWAS analysis in 32,405 european ancestry cases//42,221 european ancestry controls//1,235 european ancestry cases and 1,235 european ancestry controls from 1235 parent-offspring trios//1,836 east asian ancestry cases//3,383 east asian ancestry controls; 1,513 european ancestry cases//66,236 european ancestry controls(p-value = 5E-11 ;OR = 1.073). 0.4 Biological insights from 108 schizophrenia-associated genetic loci. genome-wide association analysis NONHSAT141673.2 lncRNA Schizophrenia 0.451 AAGTGCAATG(A > G)CACGATCTCG chr16: 29928556 0.5521,0.4479 0.50923802242609582,0.49076197757390417 Region score:0.42; TSS score:0.13; Unmatched score:0.35; Average GERP:0.0352079207920792 GeneName:AC120114.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000247735; TranscriptID:ENST00000450909; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:KCTD13; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000174943; TranscriptID:ENST00000568000; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003103 26198764 NONHSAT114476.2 rs6568685 A N/A 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls EFO_0000692 N/A Associate Schizophrenia rs6568685-A of NONHSAT114476.2 is significantly associated with the schizophrenia by using GWAS analysis in 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls(p-value = 7E-7 ;OR = 1.07). 0.4 Genome-wide association study of schizophrenia in Ashkenazi Jews. genome-wide association analysis NONHSAT114476.2 lncRNA Schizophrenia 0.33 TAGTGGTTAC(A > C,T)GTATTAAAAA chr6: 111499910 0.108,0.892,. 0.15478465851172273,0.83174853465851172,0.01346680682976554 Region score:0.24; TSS score:0.19; Unmatched score:0.13; Average GERP:0.245619801980198 GeneName:AL136310.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000220506; TranscriptID:ENST00000404926; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TRAF3IP2-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000231889; TranscriptID:ENST00000440001; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003104 23555923 hsa-mir-373 rs10425222 A N/a 191 patients with tnbc and 192 healthy female controls EFO_0005537 N/A No significance for risk Triple-negative breast cancer rs10425222-A of hsa-mir-373 and its dysfunction is not significantly associated with Triple-negative breast cancer by using case-control analysis in 191 patients with TNBC and 192 healthy female controls. -0.4 There is no association between microRNA gene polymorphisms and risk of triple negative breast cancer in a Chinese Han population. case-control analysis hsa-mir-373 miRNA Triple-negative breast cancer -0.33 ACGGGGTTCA(C > A)CTGCAGATGA chr19: 53788945 0.8768,0.1232 0.91164150101936799,0.08835849898063200 Region score:0.39; TSS score:0.33; Unmatched score:0.47; Average GERP:0.08866336633663355 GeneName:AC008753.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000269564; TranscriptID:ENST00000597420; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC008753.3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000269877; TranscriptID:ENST00000595160; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR371A; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000199031; TranscriptID:ENST00000362161; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR371B; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284568; TranscriptID:ENST00000638082; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR372; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000199095; TranscriptID:ENST00000362225; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR373; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000199143; TranscriptID:ENST00000362273; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000593522; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NLRP12; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000142405; TranscriptID:ENST00000391773; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003105 27863252 NONHSAT179864.1 rs2287922 A N/A 164,454 european ancestry individuals EFO_0004584 N/A Associate Mean platelet volume rs2287922-A of NONHSAT179864.1 is significantly associated with the mean platelet volume by using GWAS analysis in 164,454 european ancestry individuals(p-value = 1E-11 ;OR = 0.02448993). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT179864.1 lncRNA Mean platelet volume 0.33 CGGGCCAGGC(G > A)GCCCAGCAGT chr19: 48728969 0.7851,0.2149 0.64349993628950050,0.35650006371049949 Region score:0.46; TSS score:0.51; Unmatched score:0.77; Average GERP:2.180389108910888 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000592352; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RASIP1; CADD-Score:7; Consquence:missense; GeneID:ENSG00000105538; TranscriptID:ENST00000222145; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003106 27718165 MIR146A rs2910164 G N/A 207 ulcerative colitis patients and 298 matched healthy controls EFO_0000729 N/A no significance for risk ulcerative colitis rs2910164-G of hsa-mir-146a and its dysfunction is not significantly associated with Ulcerative colitis by using case-control analysis in 207 ulcerative colitis patients and 298 matched healthy controls -0.4 Polymorphisms in MIR122, MIR196A2, and MIR124A Genes are Associated with Clinical Phenotypes in Inflammatory Bowel Diseases. case-control analysis hsa-mir-146a miRNA Ulcerative colitis -0.451 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 0 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003106 20848167 miR-146a rs2910164 G N/A 170 UC and 403 control subjects EFO_0000729 N/A no significance for risk ulcerative colitis rs2910164-G of hsa-mir-146a and its dysfunction is not significantly associated with Ulcerative colitis by using case-control analysis in 170 UC and 403 control subjects -0.4 Association study of common genetic variants in pre-microRNAs in patients with ulcerative colitis. case-control analysis hsa-mir-146a miRNA Ulcerative colitis -0.451 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 0 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003107 24888363 MIR137 rs66642155 ? Dominant 345 BD patients, 426 SZ patients and 1376 healthy individuals, all unrelated, in V?sterbotten region of Northern Sweden EFO_0000692 N/A increasing risk schizophrenia rs66642155-? of hsa-mir-137 and its dysfunction is significantly associated with the increasing risk of Schizophrenia by using case-control analysis in 345 BD patients, 426 SZ patients and 1376 healthy individuals, all unrelated, in V?sterbotten region of Northern Sweden 0.9 MIR137 variants identified in psychiatric patients affect synaptogenesis and neuronal transmission gene sets. case-control analysis hsa-mir-137 miRNA Schizophrenia 0.593 - - - - - - NCRV0000003108 24039173 NONHSAT149960.1 rs7535475 ? N/A 2,246 european ancestry individuals EFO_0003761 N/A Associate Functional impairment in major depressive disorder//bipolar disorder and schizophrenia rs7535475-? of NONHSAT149960.1 is significantly associated with the functional impairment in major depressive disorder//bipolar disorder and schizophrenia by using GWAS analysis in 2,246 european ancestry individuals(p-value = 3E-6 ;OR = ?). 0.4 Genetic predictors of risk and resilience in psychiatric disorders: a cross-disorder genome-wide association study of functional impairment in major depressive disorder, bipolar disorder, and schizophrenia. genome-wide association analysis NONHSAT149960.1 lncRNA Unipolar depression 0.33 TCCTGGGAAA(C > A,T)GAATAATACT chr1: 161493797 0.5793,0.4207,. 0.49664723496432212,0.50319348878695208,0.00015927624872579 Region score:0.23; TSS score:0.27; Unmatched score:0.16; Average GERP:0.08802105263157908 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003109 26152337 has-mir-4293 rs12220909 C N/A 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A no significance for risk hepatocellular carcinoma rs12220909-C of hsa-mir-4293 and its dysfunction is not significantly associated with Hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors -0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. case-control analysis hsa-mir-4293 miRNA Hepatocellular carcinoma -0.33 GTTCCTGTCA(G > C,T)GCTGGTGTGA chr10: 14383222 0.9619,0.03814,. 0.98156377420998980,0.01842826197757390,0.00000796381243628 Region score:0.29; TSS score:0.42; Unmatched score:0.43; Average GERP:0.6702418811881188 GeneName:FRMD4A; CADD-Score:2; Consquence:intron; GeneID:ENSG00000151474; TranscriptID:ENST00000475141; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR4293; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000266321; TranscriptID:ENST00000584305; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000396684; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003110 28892062 NONHSAT203162.1 rs4357030 T N/A up to 72,390 japanese ancestry women//up to 85,894 japanese ancestry men; up to 10,048 japanese ancestry women//up to 5,098 japanese ancestry men//up to 181,999 european ancestry women//up to 140,155 european ancestry controls EFO_0001073 N/A Associate Body mass index rs4357030-T of NONHSAT203162.1 is significantly associated with the body mass index by using GWAS analysis in up to 72,390 japanese ancestry women//up to 85,894 japanese ancestry men; up to 10,048 japanese ancestry women//up to 5,098 japanese ancestry men//up to 181,999 european ancestry women//up to 140,155 european ancestry controls(p-value = 4E-10 ;OR = 0.024). 0.4 Genome-wide association study identifies 112 new loci for body mass index in the Japanese population. genome-wide association analysis NONHSAT203162.1 lncRNA Obesity 0.33 TTCAGCTCTC(C > T)GTCATGGATG chr5: 124980338 0.3109,0.6891 0.29165870285423037,0.70834129714576962 Region score:0.57; TSS score:0.67; Unmatched score:0.49; Average GERP:3.601069306930692 GeneName:LINC02240; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000260192; TranscriptID:ENST00000642446; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000768039; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003111 28540026 NONHSAT118775.2 rs140364877 ? N/A schizophrenia cases and controls (see ripke//2014)cases//up to 1,190 controls EFO_0000692 N/A Associate Schizophrenia rs140364877-? of NONHSAT118775.2 is significantly associated with the schizophrenia by using GWAS analysis in schizophrenia cases and controls (see ripke//2014)cases//up to 1,190 controls(p-value = 2E-11 ;OR = 1.0869565). 0.4 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. genome-wide association analysis NONHSAT118775.2 lncRNA Schizophrenia 0.33 CACGCAGACA(C > T)GCGTCCGGCT chr7: 1845542 0.5978,0.4022 0.85265354230377166,0.14734645769622833 Region score:0.23; TSS score:0.12; Unmatched score:0.49; Average GERP:-0.000891566265060235 GeneName:AC104129.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000176349; TranscriptID:ENST00000480694; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0029; mirSVR-E:-12.78 | GeneName:MAD1L1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000002822; TranscriptID:ENST00000406869; AnnoType:INTRONIC; mirSVR-Score:-0.0029; mirSVR-E:-12.78 | GeneName:MIR4655; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000265089; TranscriptID:ENST00000580817; AnnoType:UPSTREAM; mirSVR-Score:-0.0029; mirSVR-E:-12.78 | NCRV0000003112 28537254 NONHSAT067101.2 rs492602 G N/A up to 11,988 european ancestry cases//up to 275,335 european ancestry controls; 7,044 european ancestry cases//11,434 european ancestry controls EFO_0000676 N/A Associate Psoriasis rs492602-G of NONHSAT067101.2 is significantly associated with the psoriasis by using GWAS analysis in up to 11,988 european ancestry cases//up to 275,335 european ancestry controls; 7,044 european ancestry cases//11,434 european ancestry controls(p-value = 7E-13 ;OR = 1.11). 0.4 Large scale meta-analysis characterizes genetic architecture for common psoriasis associated variants. genome-wide association analysis NONHSAT067101.2 lncRNA Psoriasis 0.33 CGATCAATGC(A > G)ATAGGCCGCC chr19: 48703160 0.6783,0.3217 0.56164787206931702,0.43835212793068297 Region score:0.2; TSS score:0.23; Unmatched score:0.34; Average GERP:-0.02174257425742565 GeneName:FUT2; CADD-Score:5; Consquence:synonymous; GeneID:ENSG00000176920; TranscriptID:ENST00000425340; AnnoType:SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003113 25673412 NONHSAT149677.1 rs2765539 T N/A up to 56,910 european ancestry men//up to 86,570 european ancestry women; up to 36,570 european ancestry men//30,172 european ancestry women//915 filipino ancestry men//735 filipino ancestry women//2,351 african american/afro-caribbean ancestry men//6,258 african american/afro-caribbean ancestry women//2,285 south asian ancestry men//506 south asian ancestry women//195 seychellois ancestry men//266 seychellois ancestry women EFO_0004343 N/A Associate Waist-hip ratio rs2765539-T of NONHSAT149677.1 is significantly associated with the waist-hip ratio by using GWAS analysis in up to 56,910 european ancestry men//up to 86,570 european ancestry women; up to 36,570 european ancestry men//30,172 european ancestry women//915 filipino ancestry men//735 filipino ancestry women//2,351 african american/afro-caribbean ancestry men//6,258 african american/afro-caribbean ancestry women//2,285 south asian ancestry men//506 south asian ancestry women//195 seychellois ancestry men//266 seychellois ancestry women(p-value = 1E-12 ;OR = 0.0271). 0.4 New genetic loci link adipose and insulin biology to body fat distribution. genome-wide association analysis NONHSAT149677.1 lncRNA Waist-hip ratio 0.33 CAACACACAC(C > G,T)TCGCAGCTCT chr1: 119006795 0.234,.,0.766 0.22477064220183486,0.01567278287461773,0.75955657492354740 Region score:0.28; TSS score:0.66; Unmatched score:0.65; Average GERP:-0.7248356435643564 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000370512; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003114 27135401 NONHSAT053287.2 rs11263763 A N/A 2,082 european ancestry cases//9,544 european ancestry controls; 4,553 european ancestry cases//27,600 european ancestry controls EFO_1001514 N/A Associate Endometrial endometrioid carcinoma rs11263763-A of NONHSAT053287.2 is significantly associated with the endometrial endometrioid carcinoma by using GWAS analysis in 2,082 european ancestry cases//9,544 european ancestry controls; 4,553 european ancestry cases//27,600 european ancestry controls(p-value = 7E-17 ;OR = 1.2). 0.4 Five endometrial cancer risk loci identified through genome-wide association analysis. genome-wide association analysis NONHSAT053287.2 lncRNA Endometrial endometrioid cancer 0.33 CCGAAATCGC(A > G)GCGCTTCAGT chr17: 37743574 0.3552,0.6448 0.56869584607543323,0.43130415392456676 Region score:0.44; TSS score:0.62; Unmatched score:0.86; Average GERP:-1.1021396039603955 GeneName:HNF1B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000275410; TranscriptID:ENST00000617811; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000093699; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003115 29213071 NONHSAT150028.1 rs1320977 A N/A 15,997 hispanic/latino individuals EFO_0004278 N/A Associate Qt interval rs1320977-A of NONHSAT150028.1 is significantly associated with the qt interval by using GWAS analysis in 15,997 hispanic/latino individuals(p-value = 3E-15 ;OR = 2.3). 0.4 GWAS of the electrocardiographic QT interval in Hispanics/Latinos generalizes previously identified loci and identifies population-specific signals. genome-wide association analysis NONHSAT150028.1 lncRNA Sudden cardiac arrest 0.33 CTAGAGTGGC(G > A)GGGCAAGTGG chr1: 169104150 0.8211,0.1789 0.82954255861365953,0.17045744138634046 Region score:0.46; TSS score:0.36; Unmatched score:0.76; Average GERP:-0.18387920792079204 GeneName:AL031726.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000237707; TranscriptID:ENST00000415637; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AL135926.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000285622; TranscriptID:ENST00000650631; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ATP1B1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000143153; TranscriptID:ENST00000367816; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003116 26965516 NONHSAT157209.1 rs704017 G N/A 4,508 east asian ancestry cases//16,588 east asian ancestry controls; 11,044 east asian ancestry cases//18,036 east asian ancestry controls EFO_0005842 N/A Associate Colorectal cancer rs704017-G of NONHSAT157209.1 is significantly associated with the colorectal cancer by using GWAS analysis in 4,508 east asian ancestry cases//16,588 east asian ancestry controls; 11,044 east asian ancestry cases//18,036 east asian ancestry controls(p-value = 2E-8 ;OR = 1.1). 0.4 Identification of Susceptibility Loci and Genes for Colorectal Cancer Risk. genome-wide association analysis NONHSAT157209.1 lncRNA Colorectal cancer 0.451 CAACAGGCCC(A > G)CGTTGCCTCT chr10: 79059375 0.5489,0.4511 0.47762965086646279,0.52237034913353720 Region score:0.64; TSS score:0.72; Unmatched score:0.56; Average GERP:2.1583594059405957 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000409414; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ZMIZ1-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000224596; TranscriptID:ENST00000456353; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003116 24836286 NONHSAT157209.1 rs704017 G N/A 2,098 east asian ancestry cases//6,172 east asian ancestry controls; 12,865 east asian ancestry cases//25,773 east asian ancestry controls//up to 16,984 european ancestry cases//up to 18,262 european ancestry controls EFO_0005842 N/A Associate Colorectal cancer rs704017-G of NONHSAT157209.1 is significantly associated with the colorectal cancer by using GWAS analysis in 2,098 east asian ancestry cases//6,172 east asian ancestry controls; 12,865 east asian ancestry cases//25,773 east asian ancestry controls//up to 16,984 european ancestry cases//up to 18,262 european ancestry controls(p-value = 2E-8 ;OR = 1.1). 0.4 Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk. genome-wide association analysis NONHSAT157209.1 lncRNA Colorectal cancer 0.451 CAACAGGCCC(A > G)CGTTGCCTCT chr10: 79059375 0.5489,0.4511 0.47762965086646279,0.52237034913353720 Region score:0.64; TSS score:0.72; Unmatched score:0.56; Average GERP:2.1583594059405957 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000409414; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ZMIZ1-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000224596; TranscriptID:ENST00000456353; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003117 28199695 NONHSAT168795.1 rs11848870 T N/A 41,355 european ancestry men and 43,369 european ancestry women EFO_0008377 N/A Associate Itch intensity from mosquito bite adjusted by bite size rs11848870-T of NONHSAT168795.1 is significantly associated with the itch intensity from mosquito bite adjusted by bite size by using GWAS analysis in 41,355 european ancestry men and 43,369 european ancestry women(p-value = 6E-6 ;OR = 0.127887). 0.4 GWAS of self-reported mosquito bite size, itch intensity and attractiveness to mosquitoes implicates immune-related predisposition loci. genome-wide association analysis NONHSAT168795.1 lncRNA Mosquito bite reaction itch intensity measurement 0.33 CCCAGCACAC(C > T)AGGATCGACG chr14: 90758729 0.9577,0.04233 0.95659722222222222,0.04340277777777777 Region score:0.4; TSS score:0.4; Unmatched score:0.64; Average GERP:-1.1892350495049508 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000505163; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TTC7B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000165914; TranscriptID:ENST00000328459; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003118 28928442 NONHSAT208940.1 rs111469561 ? N/A 24,994 european ancestry cases//37,451 european ancestry controls EFO_0008406 N/A Associate Plantar warts rs111469561-? of NONHSAT208940.1 is significantly associated with the plantar warts by using GWAS analysis in 24,994 european ancestry cases//37,451 european ancestry controls(p-value = 1E-6 ;OR = 0.29). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. genome-wide association analysis NONHSAT208940.1 lncRNA Susceptibility to plantar warts measurement 0.33 CACCACGCCC(G > A)GCTAATTTTG chr6: 28946964 0.9129,0.08706 0.91842666921508664,0.08157333078491335 Region score:0.22; TSS score:0.11; Unmatched score:0.13; Average GERP:0.09215841584158417 GeneName:LINC01556; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000204709; TranscriptID:ENST00000377186; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003119 23928854 miR-196a rs11614913 T N/A 400 Vogt-Koyanagi-Harada syndrome and 1,685 controls all belonging to a Chinese Han population Orphanet_3437 N/A no significance for risk Vogt-Koyanagi-Harada disease rs11614913-T of hsa-mir-196a-2 and its dysfunction is not significantly associated with Vogt-koyanagi-harada disease by using case-control analysis in 400 Vogt-Koyanagi-Harada syndrome and 1,685 controls all belonging to a Chinese Han population -0.4 A functional variant of pre-miRNA-196a2 confers risk for Behcet's disease but not for Vogt-Koyanagi-Harada syndrome or AAU in ankylosing spondylitis. case-control analysis hsa-mir-196a-2 miRNA Vogt-koyanagi-harada disease -0.33 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003120 27863252 NONHSAT108771.2 rs2523696 T N/A 171,529 european ancestry individuals EFO_0005192 N/A Associate Red cell distribution width rs2523696-T of NONHSAT108771.2 is significantly associated with the red cell distribution width by using GWAS analysis in 171,529 european ancestry individuals(p-value = 9E-15 ;OR = 0.02759642). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT108771.2 lncRNA Red blood cell distribution width 0.33 ATGTGATTAA(C > T)AAAAAGATCT chr6: 31446954 0.7586,0.2414 0.66087697502548419,0.33912302497451580 Region score:0.11; TSS score:0.12; Unmatched score:0.15; Average GERP:0.03068999999999998 GeneName:HCP5; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000206337; TranscriptID:ENST00000414046; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LINC01149; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000230174; TranscriptID:ENST00000430364; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003121 24888363 MIR137 rs1553269376 ? Dominant 345 BD patients, 426 SZ patients and 1376 healthy individuals, all unrelated, in V?sterbotten region of Northern Sweden EFO_0000692 N/A increasing risk schizophrenia rs1553269376-? of hsa-mir-137 and its dysfunction is significantly associated with the increasing risk of Schizophrenia by using case-control analysis in 345 BD patients, 426 SZ patients and 1376 healthy individuals, all unrelated, in V?sterbotten region of Northern Sweden 0.9 MIR137 variants identified in psychiatric patients affect synaptogenesis and neuronal transmission gene sets. case-control analysis hsa-mir-137 miRNA Schizophrenia 0.593 - chr1:98046174 - - - - NCRV0000003122 26486471 NONHSAT086605.2 rs5995441 ? N/A up to 1,635 european ancestry individuals with low vwf levels//up to 33,286 european ancestry individuals with normal vwf levels EFO_0004629 N/A Associate Low vwf levels rs5995441-? of NONHSAT086605.2 is significantly associated with the low vwf levels by using GWAS analysis in up to 1,635 european ancestry individuals with low vwf levels//up to 33,286 european ancestry individuals with normal vwf levels(p-value = 8E-7 ;OR = ?). 0.4 Genome-wide association studies identify genetic loci for low von Willebrand factor levels. genome-wide association analysis NONHSAT086605.2 lncRNA Von willebrand factor measurement 0.33 AACCACCCAC(T > C)CAACCATGGA chr22: 37525667 0.6104,0.3896 0.61465500764525993,0.38534499235474006 Region score:0.27; TSS score:0.49; Unmatched score:0.43; Average GERP:-0.835784269662921 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000146017; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003123 28928442 NONHSAT169396.1 rs2251244 ? N/A 52,218 european ancestry cases//10,235 european ancestry controls EFO_0008412 N/A Associate Yeast infection rs2251244-? of NONHSAT169396.1 is significantly associated with the yeast infection by using GWAS analysis in 52,218 european ancestry cases//10,235 european ancestry controls(p-value = 2E-9 ;OR = 0.0485). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. genome-wide association analysis NONHSAT169396.1 lncRNA Susceptibility to vaginal yeast infection measurement 0.33 TTCAAGACAC(A > C)ATGGTACTGA chr14: 61556546 0.5427,0.4573 0.42905039500509683,0.57094960499490316 Region score:0.36; TSS score:0.32; Unmatched score:0.49; Average GERP:-0.18069603960396036 GeneName:AL355916.2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000258989; TranscriptID:ENST00000556347; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LINC01303; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000250548; TranscriptID:ENST00000508827; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003124 18356149 miR-199a-2 rs1427199400 A Dominant >100 human tumor tissues and 20 cancer cell lines EFO_0001663 N/A Increasing risk Prostate cancer rs1427199400-A of miR-199a-2 and its dysfunction is significantly associated with the increasing risk of prostate cancer by using case-control analysis in >100 human tumor tissues and 20 cancer cell lines. 0.4 Genetic variations of microRNAs in human cancer and their effects on the expression of miRNAs. case-control analysis hsa-mir-199a-2 miRNA Prostate cancer 0.33 ATTCAGCTTT(C > A)CCCCCTGAAT chr1: 172144719 N/A 0.99997610856269113,0.00002389143730886 N/A GeneName:DNM3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197959; TranscriptID:ENST00000627582; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:DNM3OS; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000230630; TranscriptID:ENST00000417354; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR199A2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000208024; TranscriptID:ENST00000385289; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000377304; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003125 27863252 NONHSAT145456.2 rs377079849 C N/A 169,822 european ancestry individuals EFO_0007987 N/A Associate Granulocyte count rs377079849-C of NONHSAT145456.2 is significantly associated with the granulocyte count by using GWAS analysis in 169,822 european ancestry individuals(p-value = 2E-9 ;OR = 0.02318978). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT145456.2 lncRNA Granulocyte count 0.33 TATATATATA(CAT > C)ATATATATAT chr17: 7884457 0.5206,0.4794 0.54670775993883792,0.45329224006116207 N/A GeneName:CHD3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000170004; TranscriptID:ENST00000380358; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NAA38; CADD-Score:2; Consquence:intron; GeneID:ENSG00000183011; TranscriptID:ENST00000576861; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000090915; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003126 24475105 miR-101 rs1537146 G N/A 1064 breast cancer cases and 1073 cancer-free controls EFO_0000305 N/A no significance for risk breast carcinoma rs1537146-G of hsa-mir-101-1 and its dysfunction is not significantly associated with Breast carcinoma by using case-control analysis in 1064 breast cancer cases and 1073 cancer-free controls -0.4 Genetic variations in the flanking regions of miR-101-2 are associated with increased risk of breast cancer. case-control analysis hsa-mir-101-1 miRNA Breast carcinoma -0.33 CCAAATATGT(A > G)CAAATACTGT chr9: 4859303 0.6883,0.3117 0.69430905963302752,0.30569094036697247 Region score:0.21; TSS score:0.12; Unmatched score:0.16; Average GERP:-0.22220891089108913 GeneName:RCL1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000120158; TranscriptID:ENST00000381750; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003127 25387704 NONHSAT223629.1 rs5969978 ? N/A 2,383 european ancestry adolescents and 1,643 european ancestry adults from 1,613 families EFO_0000677 N/A Associate Electroencephalogram traits rs5969978-? of NONHSAT223629.1 is significantly associated with the electroencephalogram traits by using GWAS analysis in 2,383 european ancestry adolescents and 1,643 european ancestry adults from 1,613 families(p-value = 4E-6 ;OR = 0.064). 0.4 Heritability and molecular-genetic basis of resting EEG activity: a genome-wide association study. genome-wide association analysis NONHSAT223629.1 lncRNA Mental or behavioural disorder 0.33 AGCAAGGGCT(T > C)CTGGGAGACT chrX: 150945697 0.3497,0.6503 0.25459511977573904,0.74540488022426095 Region score:0.42; TSS score:0.21; Unmatched score:0.08; Average GERP:-0.05099643564356433 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003128 27005778 NONHSAT097346.2 rs9637599 C N/A 2,118 erasmus rucphen (founder/genetic isolate)//22,807 european ancestry individuals EFO_0004725 N/A Associate Metabolite levels (small molecules and protein measures) rs9637599-C of NONHSAT097346.2 is significantly associated with the metabolite levels (small molecules and protein measures) by using GWAS analysis in 2,118 erasmus rucphen (founder/genetic isolate)//22,807 european ancestry individuals(p-value = 2E-35 ;OR = 0.11). 0.4 Genome-wide study for circulating metabolites identifies 62 loci and reveals novel systemic effects of LPA. genome-wide association analysis NONHSAT097346.2 lncRNA Metabolite measurement 0.33 TGTGATCTTT(A > C)GGGAATGTCT chr4: 88285078 0.4922,0.5078 0.44627612130479102,0.55372387869520897 Region score:0.21; TSS score:0.32; Unmatched score:0.85; Average GERP:-0.39695643564356453 GeneName:AC107067.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000246375; TranscriptID:ENST00000500009; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000170565; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PPM1K; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000163644; TranscriptID:ENST00000608933; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003129 26034056 NONHSAT216393.1 rs72725879 T N/A 6,406 european ancestry cases//601 african american cases//288 east asian ancestry cases//488 latino cases30,866 european ancestry controls//1,650 african american controls//2,938 east asian ancestry controls//3,141 latino controls; 4,599 european ancestry cases//2,265 african american cases//2,940 european ancestry controls//2,414 african american controls EFO_0001663 N/A Associate Prostate cancer rs72725879-T of NONHSAT216393.1 is significantly associated with the prostate cancer by using GWAS analysis in 6,406 european ancestry cases//601 african american cases//288 east asian ancestry cases//488 latino cases30,866 european ancestry controls//1,650 african american controls//2,938 east asian ancestry controls//3,141 latino controls; 4,599 european ancestry cases//2,265 african american cases//2,940 european ancestry controls//2,414 african american controls(p-value = 3E-8 ;OR = 1.92). 0.4 A large multiethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences. genome-wide association analysis NONHSAT216393.1 lncRNA Prostate cancer 0.33 AATTTACTAA(C > T)ATATAATAAT chr8: 127091724 0.6436,0.3564 0.72207090978593272,0.27792909021406727 Region score:0.18; TSS score:0.12; Unmatched score:0.02; Average GERP:0.09284455445544557 GeneName:AC020688.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000224722; TranscriptID:ENST00000519282; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CASC19; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000254166; TranscriptID:ENST00000642100; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PCAT1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000253438; TranscriptID:ENST00000646670; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PRNCR1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000282961; TranscriptID:ENST00000635449; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003130 29064472 NONHSAT208721.1 rs15300 G N/A 114 african ancestry schizophrenia cases//69 african schizo-affective cases//41 african ancestry bipolar disorder cases//76 african ancestry controls//116 european ancestry schizophrenia cases//86 european ancestry schizo-affective cases//165 european ancestry bipolar disorder cases//182 european ancestry controls EFO_0005407 N/A Associate Pursuit maintenance gain rs15300-G of NONHSAT208721.1 is significantly associated with the pursuit maintenance gain by using GWAS analysis in 114 african ancestry schizophrenia cases//69 african schizo-affective cases//41 african ancestry bipolar disorder cases//76 african ancestry controls//116 european ancestry schizophrenia cases//86 european ancestry schizo-affective cases//165 european ancestry bipolar disorder cases//182 european ancestry controls(p-value = 2E-7 ;OR = ?). 0.4 Genome-wide association studies of smooth pursuit and antisaccade eye movements in psychotic disorders: findings from the B-SNIP study. genome-wide association analysis NONHSAT208721.1 lncRNA Psychosis 0.33 CACCATCAAA(A > G)TGGAATGAAT chr6: 8413179 0.9371,0.0629 0.93152714067278287,0.06847285932721712 Region score:0.56; TSS score:0.81; Unmatched score:0.82; Average GERP:1.9611089108910897 GeneName:AL355499.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000285216; TranscriptID:ENST00000644718; AnnoType:INTRONIC; mirSVR-Score:-1.2727; mirSVR-E:-13.48 | GeneName:SLC35B3; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000124786; TranscriptID:ENST00000379660; AnnoType:3PRIME_UTR; mirSVR-Score:-1.2727; mirSVR-E:-13.48 | NCRV0000003131 28935272 NONHSAT218506.1 rs202280 ? N/A 289 european ancestry women EFO_0001075 N/A Associate Overall survival in serous epithelial ovarian cancer treated with paclitaxel and cisplatin rs202280-? of NONHSAT218506.1 is significantly associated with the overall survival in serous epithelial ovarian cancer treated with paclitaxel and cisplatin by using GWAS analysis in 289 european ancestry women(p-value = 6E-6 ;OR = 2.0). 0.4 Genome-wide association study evaluating single-nucleotide polymorphisms and outcomes in patients with advanced stage serous ovarian or primary peritoneal cancer: An NRG Oncology/Gynecologic Oncology Group study. genome-wide association analysis NONHSAT218506.1 lncRNA Ovarian cancer 0.33 ACCGGAGTGC(A > G)TGGCCCTGCC chr8: 81290982 0.9617,0.03834 0.92414468654434250,0.07585531345565749 Region score:0.45; TSS score:0.37; Unmatched score:0.31; Average GERP:-1.33170693069307 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000860375; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003132 20167578 NONHSAT152520.1 rs6136 T N/A up to 9,813 european ancestry individuals HP_0001658 N/A Associate Soluble levels of adhesion molecules rs6136-T of NONHSAT152520.1 is significantly associated with the soluble levels of adhesion molecules by using GWAS analysis in up to 9,813 european ancestry individuals(p-value = 4E-61 ;OR = 22.6). 0.4 Large-scale genomic studies reveal central role of ABO in sP-selectin and sICAM-1 levels. genome-wide association analysis NONHSAT152520.1 lncRNA Myocardial infarction 0.33 GGCACGGTAG(T > G)TGACCAGTGG chr1: 169594713 0.9641,0.03594 0.93156695973496432,0.06843304026503567 Region score:0.29; TSS score:0.26; Unmatched score:0.57; Average GERP:0.6274643564356436 GeneName:SELP; CADD-Score:7; Consquence:missense; GeneID:ENSG00000174175; TranscriptID:ENST00000263686; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003133 27354352 NONHSAT211293.1 rs2046210 A N/A 7,619 east asian ancestry cases//6,286 east asian ancestry controls; 6,605 east asian ancestry cases//8,543 east asian ancestry controls EFO_0000305 N/A Associate Breast cancer rs2046210-A of NONHSAT211293.1 is significantly associated with the breast cancer by using GWAS analysis in 7,619 east asian ancestry cases//6,286 east asian ancestry controls; 6,605 east asian ancestry cases//8,543 east asian ancestry controls(p-value = 7E-15 ;OR = 1.22). 0.4 Genome-wide association study in East Asians identifies two novel breast cancer susceptibility loci. genome-wide association analysis NONHSAT211293.1 lncRNA Breast cancer 0.599 AGTCACATAC(G > A)CATCTACCTG chr6: 151627231 0.5879,0.4121 0.57598273445463812,0.42401726554536187 Region score:0.27; TSS score:0.21; Unmatched score:0.07; Average GERP:-0.1272871287128712 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003133 23544013 NONHSAT211293.1 rs2046210 C N/A 1,426 european ancestry cases//1,301 european ancestry controls; 6,031 european ancestry cases//5,933 european ancestry controls EFO_0000305 N/A Associate Breast cancer in brca1 mutation carriers rs2046210-C of NONHSAT211293.1 is significantly associated with the breast cancer in brca1 mutation carriers by using GWAS analysis in 1,426 european ancestry cases//1,301 european ancestry controls; 6,031 european ancestry cases//5,933 european ancestry controls(p-value = 5E-9 ;OR = 1.28). 0.4 Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk. genome-wide association analysis NONHSAT211293.1 lncRNA Breast cancer 0.599 AGTCACATAC(G > A)CATCTACCTG chr6: 151627231 0.5879,0.4121 0.57598273445463812,0.42401726554536187 Region score:0.27; TSS score:0.21; Unmatched score:0.07; Average GERP:-0.1272871287128712 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003133 19219042 NONHSAT211293.1 rs2046210 A N/A 1,505 chinese ancestry cases//1,522 chinese ancestry controls; 5,026 chinese ancestry cases//2,476 chinese ancestry controls//1,591 european ancestry cases//1,466 european ancestry controls EFO_0000305 N/A Associate Breast cancer rs2046210-A of NONHSAT211293.1 is significantly associated with the breast cancer by using GWAS analysis in 1,505 chinese ancestry cases//1,522 chinese ancestry controls; 5,026 chinese ancestry cases//2,476 chinese ancestry controls//1,591 european ancestry cases//1,466 european ancestry controls(p-value = 2E-15 ;OR = 1.29). 0.4 Genome-wide association study identifies a new breast cancer susceptibility locus at 6q25.1. genome-wide association analysis NONHSAT211293.1 lncRNA Breast cancer 0.599 AGTCACATAC(G > A)CATCTACCTG chr6: 151627231 0.5879,0.4121 0.57598273445463812,0.42401726554536187 Region score:0.27; TSS score:0.21; Unmatched score:0.07; Average GERP:-0.1272871287128712 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003133 23535733 NONHSAT211293.1 rs2046210 A N/A 4,193 european ancestry cases//35,194 european ancestry controls; 6,514 european ancestry cases//41,455 european ancestry controls EFO_0000305 N/A Associate Breast cancer rs2046210-A of NONHSAT211293.1 is significantly associated with the breast cancer by using GWAS analysis in 4,193 european ancestry cases//35,194 european ancestry controls; 6,514 european ancestry cases//41,455 european ancestry controls(p-value = 5E-16 ;OR = 1.15). 0.4 Genome-wide association studies identify four ER negative-specific breast cancer risk loci. genome-wide association analysis NONHSAT211293.1 lncRNA Breast cancer 0.599 AGTCACATAC(G > A)CATCTACCTG chr6: 151627231 0.5879,0.4121 0.57598273445463812,0.42401726554536187 Region score:0.27; TSS score:0.21; Unmatched score:0.07; Average GERP:-0.1272871287128712 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003133 25751625 NONHSAT211293.1 rs2046210 A N/A 15,748 european ancestry cases//18,084 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls EFO_0000305 N/A Associate Breast cancer rs2046210-A of NONHSAT211293.1 is significantly associated with the breast cancer by using GWAS analysis in 15,748 european ancestry cases//18,084 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls(p-value = 6E-24 ;OR = 1.08). 0.4 Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer. genome-wide association analysis NONHSAT211293.1 lncRNA Breast cancer 0.599 AGTCACATAC(G > A)CATCTACCTG chr6: 151627231 0.5879,0.4121 0.57598273445463812,0.42401726554536187 Region score:0.27; TSS score:0.21; Unmatched score:0.07; Average GERP:-0.1272871287128712 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003134 27741504 miR-423 rs6505162 A N/a 218 endometriosis patients and 202 healthy women age-matched controls EFO_0001065 N/A No significance for risk Endometriosis rs6505162-A of miR-423 and its dysfunction is not significantly associated with endometriosis by using case-control analysis in 218 endometriosis patients and 202 healthy women age-matched controls. -0.4 Up-regulation of ribosome biogenesis by MIR196A2 genetic variation promotes endometriosis development and progression. case-control analysis hsa-mir-423 miRNA Endometriosis -0.33 TTGCTTCCTA(A > C,T)CCCGCGCTTG chr17: 30117165 0.5022,0.4978,. 0.57055937818552497,0.42940876656472986,0.00003185524974515 Region score:0.43; TSS score:0.32; Unmatched score:0.93; Average GERP:3.269841584158416 GeneName:AC104984.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000265394; TranscriptID:ENST00000582938; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC104984.5; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000266919; TranscriptID:ENST00000586878; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3184; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284399; TranscriptID:ENST00000637796; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR423; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000283935; TranscriptID:ENST00000362201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000092957; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NSRP1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000126653; TranscriptID:ENST00000247026; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003135 21156761 NONHSAT105522.2 rs2961663 ? N/A 1,147 european ancestry acpa positive ra cases//774 european ancestry acpa negative ra cases//1,079 european ancestry controls; 887 european ancestry acpa positive ra cases//1,218 european ancestry controls EFO_0000685 N/A Associate Rheumatoid arthritis rs2961663-? of NONHSAT105522.2 is significantly associated with the rheumatoid arthritis by using GWAS analysis in 1,147 european ancestry acpa positive ra cases//774 european ancestry acpa negative ra cases//1,079 european ancestry controls; 887 european ancestry acpa positive ra cases//1,218 european ancestry controls(p-value = 4E-6 ;OR = ?). 0.4 A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis. genome-wide association analysis NONHSAT105522.2 lncRNA Rheumatoid arthritis 0.33 ACATTTATAC(C > G,T)GAGTTCTTTA chr5: 178186543 0.8912,.,0.1088 0.86479835626911314,0.00000796381243628,0.13519367991845056 Region score:0.34; TSS score:0.34; Unmatched score:0.53; Average GERP:0.17481833663366353 GeneName:GMCL2; CADD-Score:7; Consquence:missense; GeneID:ENSG00000244234; TranscriptID:ENST00000463439; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000779463; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003136 20585627 NONHSAT108741.2 rs6903896 ? N/A 9,126 european ancestry individuals HP_0025095 N/A Associate Common traits (other) rs6903896-? of NONHSAT108741.2 is significantly associated with the common traits (other) by using GWAS analysis in 9,126 european ancestry individuals(p-value = 6E-7 ;OR = ?). 0.4 Web-based, participant-driven studies yield novel genetic associations for common traits. genome-wide association analysis NONHSAT108741.2 lncRNA Sneeze 0.33 AAGAGGTTGA(G > A)AGGTTGGGGC chr6: 31200252 0.9203,0.07967 0.95250382262996941,0.04749617737003058 Region score:0.22; TSS score:0.16; Unmatched score:0.49; Average GERP:0.09454653465346541 GeneName:AL662844.3; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000271821; TranscriptID:ENST00000606909; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AL662844.4; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000272501; TranscriptID:ENST00000606367; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HCG27; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000206344; TranscriptID:ENST00000383331; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003137 29059683 NONHSAT081192.2 rs2822999 G N/A 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls EFO_0000305 N/A Associate Breast cancer rs2822999-G of NONHSAT081192.2 is significantly associated with the breast cancer by using GWAS analysis in 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls(p-value = 2E-11 ;OR = 0.0589). 0.4 Association analysis identifies 65 new breast cancer risk loci. genome-wide association analysis NONHSAT081192.2 lncRNA Breast cancer 0.33 TTTTGTAGTT(T > G)ATAACATATT chr21: 14992435 0.8912,0.1088 0.86970406472986748,0.13029593527013251 Region score:0.15; TSS score:0.17; Unmatched score:0.34; Average GERP:-0.39991603960396027 GeneName:AF127577.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000231201; TranscriptID:ENST00000436429; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AF127577.4; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000235609; TranscriptID:ENST00000432230; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000658804; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NRIP1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000180530; TranscriptID:ENST00000400202; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003138 25918132 NONHSAT170599.1 rs74609360 A N/A 74 european ancestry cases//824 european ancestry controls EFO_0000270 N/A Associate Diisocyanate-induced asthma rs74609360-A of NONHSAT170599.1 is significantly associated with the diisocyanate-induced asthma by using GWAS analysis in 74 european ancestry cases//824 european ancestry controls(p-value = 2E-7 ;OR = 4.14). 0.4 Genome-Wide Association Study Identifies Novel Loci Associated With Diisocyanate-Induced Occupational Asthma. genome-wide association analysis NONHSAT170599.1 lncRNA Asthma 0.33 GGCCTTGTGC(C > T)GGGGTCTGCT chr15: 31248192 0.9101,0.08986 0.95871559633027522,0.04128440366972477 Region score:0.26; TSS score:0.44; Unmatched score:0.13; Average GERP:-0.5064871287128713 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003139 28067908 NONHSAT206871.1 rs17119 ? N/A 12,366 european and unknown ancestry cases//33,609 european and unknown ancestry controls EFO_0000729 N/A Associate Ulcerative colitis rs17119-? of NONHSAT206871.1 is significantly associated with the ulcerative colitis by using GWAS analysis in 12,366 european and unknown ancestry cases//33,609 european and unknown ancestry controls(p-value = 7E-7 ;OR = ?). 0.4 Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease. genome-wide association analysis NONHSAT206871.1 lncRNA Ulcerative colitis 0.33 TTATTACAGT(G > A)GGATTAGAGT chr6: 14719265 0.2738,0.7262 0.26280581039755351,0.73719418960244648 Region score:0.29; TSS score:0.2; Unmatched score:0.09; Average GERP:-0.5867900990099011 GeneName:AL138720.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000234261; TranscriptID:ENST00000629853; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003140 29228715 NONHSAT003505.2 rs338241 ? N/A 636 austrian ancestry cases//4,294 european ancestry controls EFO_0005406 N/A Associate Colorectal adenoma (advanced) rs338241-? of NONHSAT003505.2 is significantly associated with the colorectal adenoma (advanced) by using GWAS analysis in 636 austrian ancestry cases//4,294 european ancestry controls(p-value = 6E-6 ;OR = 1.813). 0.4 Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas. genome-wide association analysis NONHSAT003505.2 lncRNA Colorectal adenoma 0.33 GGTGAGAGAC(A > G)TGTGGGCTGA chr1: 58468483 0.1068,0.8932 0.05984008664627930,0.94015991335372069 Region score:0.2; TSS score:0.45; Unmatched score:0.49; Average GERP:-0.2861146534653465 GeneName:DAB1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000173406; TranscriptID:ENST00000485760; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:OMA1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000162600; TranscriptID:ENST00000460671; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003141 26634245 NONHSAT101165.2 rs139817151 G N/A 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio in copd rs139817151-G of NONHSAT101165.2 is significantly associated with the post bronchodilator fev1/fvc ratio in copd by using GWAS analysis in 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases(p-value = 5E-6 ;OR = 0.249). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT101165.2 lncRNA Pulmonary function measurement 0.33 GTTACATAAA(A > G)TATCATCCTG chr5: 40967607 0.9988,0.001198 0.99887710244648318,0.00112289755351681 Region score:0.22; TSS score:0.05; Unmatched score:0.38; Average GERP:0.4307710891089111 GeneName:AC114967.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000248120; TranscriptID:ENST00000504890; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:C7; CADD-Score:2; Consquence:intron; GeneID:ENSG00000112936; TranscriptID:ENST00000313164; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003142 29773352 ANRIL rs10757269 A N/A 200 atherothrombotic stroke cases and 205 controls EFO_1001976 N/A no significance for risk atherothrombotic stroke rs10757269-A of ANRIL and its dysfunction is not significantly associated with Cardioembolic stroke by using case-control analysis in 200 atherothrombotic stroke cases and 205 controls -0.4 The ANRIL Genetic Variants and Their Interactions with Environmental Risk Factors on Atherothrombotic Stroke in a Han Chinese Population. case-control analysis ANRIL lncRNA Cardioembolic stroke -0.33 GTTCTTTTAG(A > C,G)TAATTTTTTT chr9: 22072265 0.3045,.,0.6955 0.36702822375127420,0.00000796381243628,0.63296381243628950 Region score:0.17; TSS score:0.08; Unmatched score:0.04; Average GERP:0.2568495049504951 GeneName:CDKN2B-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000240498; TranscriptID:ENST00000428597; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003143 24839885 NONHSAT106965.2 rs2272990 T N/A 3,121 european ancestry individuals//1,475 children from 1,031 families EFO_0005661 N/A Associate Preschool internalizing problems rs2272990-T of NONHSAT106965.2 is significantly associated with the preschool internalizing problems by using GWAS analysis in 3,121 european ancestry individuals//1,475 children from 1,031 families(p-value = 5E-7 ;OR = 0.39). 0.4 A genome-wide association meta-analysis of preschool internalizing problems. genome-wide association analysis NONHSAT106965.2 lncRNA Child behaviour checklist assessment 0.33 GCGGAGGCTT(T > C,G)GGGAAGGTGT chr6: 3076907 N/A 1 Region score:0.41; TSS score:0.16; Unmatched score:0.46; Average GERP:1.6621683168316839 GeneName:RIPK1; CADD-Score:5; Consquence:synonymous; GeneID:ENSG00000137275; TranscriptID:ENST00000259808; AnnoType:SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RIPK1; CADD-Score:7; Consquence:missense; GeneID:ENSG00000137275; TranscriptID:ENST00000259808; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003144 26192919 NONHSAT191238.1 rs2823286 G N/A 6,968 european ancestry cases//20,464 european ancestry controls; 10,679 european ancestry cases//26,715 european ancestry controls//397 iranian ancestry cases//342 iranian ancestry controls//1,239 indian ancestry cases//990 indian ancestry controls//1,134 east asian ancestry cases//3,719 east asian ancestry controls EFO_0000729 N/A Associate Ulcerative colitis rs2823286-G of NONHSAT191238.1 is significantly associated with the ulcerative colitis by using GWAS analysis in 6,968 european ancestry cases//20,464 european ancestry controls; 10,679 european ancestry cases//26,715 european ancestry controls//397 iranian ancestry cases//342 iranian ancestry controls//1,239 indian ancestry cases//990 indian ancestry controls//1,134 east asian ancestry cases//3,719 east asian ancestry controls(p-value = 2E-12 ;OR = 1.1033705). 0.4 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. genome-wide association analysis NONHSAT191238.1 lncRNA Ulcerative colitis 0.451 GGAACTCCCT(G > A)AATACACCCA chr21: 15445619 0.7654,0.2346 0.71994457186544342,0.28005542813455657 Region score:0.51; TSS score:0.49; Unmatched score:0.29; Average GERP:0.7481130693069303 GeneName:AJ009632.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000229425; TranscriptID:ENST00000634642; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003144 28067908 NONHSAT191238.1 rs2823286 ? N/A 12,366 european and unknown ancestry cases//33,609 european and unknown ancestry controls EFO_0000729 N/A Associate Ulcerative colitis rs2823286-? of NONHSAT191238.1 is significantly associated with the ulcerative colitis by using GWAS analysis in 12,366 european and unknown ancestry cases//33,609 european and unknown ancestry controls(p-value = 2E-13 ;OR = ?). 0.4 Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease. genome-wide association analysis NONHSAT191238.1 lncRNA Ulcerative colitis 0.451 GGAACTCCCT(G > A)AATACACCCA chr21: 15445619 0.7654,0.2346 0.71994457186544342,0.28005542813455657 Region score:0.51; TSS score:0.49; Unmatched score:0.29; Average GERP:0.7481130693069303 GeneName:AJ009632.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000229425; TranscriptID:ENST00000634642; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003145 25836258 miR-499 rs3746444 C N/a 102 subjects with as and 105 healthy controls in a han chinese population EFO_0003898 N/A No significance for risk Ankylosing spondylitis rs3746444-C of miR-499 and its dysfunction is not significantly associated with ankylosing spondylitis by using case-control analysis in 102 subjects with AS and 105 healthy controls in a Han Chinese population. -0.4 Association between ankylosing spondylitis and the miR-146a and miR-499 polymorphisms. case-control analysis hsa-mir-499a miRNA Ankylosing spondylitis -0.33 CCACGTGAAC(A > G)TCACAGCAAG chr20: 34990448 0.8165,0.1835 0.81708715596330275,0.18291284403669724 Region score:0.79; TSS score:0.85; Unmatched score:0.95; Average GERP:3.757564356435645 GeneName:MIR499A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207635; TranscriptID:ENST00000384903; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR499B; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283441; TranscriptID:ENST00000636498; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYH7B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000078814; TranscriptID:ENST00000262873; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003146 27225129 NONHSAT195730.1 rs3172494 T N/A 405,072 european ancestry individuals EFO_0004784 N/A Associate Educational attainment (years of education) rs3172494-T of NONHSAT195730.1 is significantly associated with the educational attainment (years of education) by using GWAS analysis in 405,072 european ancestry individuals(p-value = 9E-11 ;OR = 0.023141198). 0.4 Genome-wide association study identifies 74 loci associated with educational attainment. genome-wide association analysis NONHSAT195730.1 lncRNA Self reported educational attainment 0.33 AATCTGCTCA(G > T)TCCTCGACTG chr3: 48694054 0.892,0.108 0.88095693170234454,0.11904306829765545 Region score:0.55; TSS score:0.48; Unmatched score:0.78; Average GERP:3.8210198019802015 GeneName:IP6K2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000068745; TranscriptID:ENST00000328631; AnnoType:INTRONIC; mirSVR-Score:-0.2403; mirSVR-E:-19.37 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000685319; AnnoType:REGULATORY; mirSVR-Score:-0.2403; mirSVR-E:-19.37 | NCRV0000003147 27515689 NONHSAT198416.1 rs71610881 A N/A 1,346 european ancestry individuals EFO_0001663 radiotherapy Associate Response to radiotherapy in prostate cancer (overall toxicity) rs71610881-A of NONHSAT198416.1 is significantly associated with the response to radiotherapy in prostate cancer (overall toxicity) by using GWAS analysis in 1,346 european ancestry individuals(p-value = 5E-7 ;OR = 0.6). 0.4 Meta-analysis of Genome Wide Association Studies Identifies Genetic Markers of Late Toxicity Following Radiotherapy for Prostate Cancer. genome-wide association analysis NONHSAT198416.1 lncRNA Prostate cancer 0.33 CAGAGTCTTG(G > A)CAGCCTCCCA chr4: 26002024 0.981,0.01897 0.96840755606523955,0.03159244393476044 Region score:0.29; TSS score:0.09; Unmatched score:0.03; Average GERP:-0.5473762376237628 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000720065; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003148 25087078 NONHSAT183033.1 rs12987787 T N/A 405 european ancestry cases//127 african american cases//248 cases//2,330 european ancestry genetic generalised epilepsy cases//81 african american genetic generalised epilepsy cases//195 genetic generalised epilepsy cases//3,277 european ancestry focal epilepsy cases//222 african american focal epilepsy cases//487 han chinese ancestry focal epilepsy cases//1,324 focal epilepsy cases//up to 17,441 european ancestry controls//up to 2,843 african american controls//up to 2,875 han chinese ancestry controls//up to 2,998 controls EFO_0004263 N/A Associate Epilepsy rs12987787-T of NONHSAT183033.1 is significantly associated with the epilepsy by using GWAS analysis in 405 european ancestry cases//127 african american cases//248 cases//2,330 european ancestry genetic generalised epilepsy cases//81 african american genetic generalised epilepsy cases//195 genetic generalised epilepsy cases//3,277 european ancestry focal epilepsy cases//222 african american focal epilepsy cases//487 han chinese ancestry focal epilepsy cases//1,324 focal epilepsy cases//up to 17,441 european ancestry controls//up to 2,843 african american controls//up to 2,875 han chinese ancestry controls//up to 2,998 controls(p-value = 1E-7 ;OR = 1.12). 0.4 Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies. genome-wide association analysis NONHSAT183033.1 lncRNA Partial epilepsy 0.33 TTCTCTCTCT(T > C)TTTTTTTTTT chr2: 166001881 N/A 0.78191099643221202,0.21808900356778797 Region score:0.23; TSS score:0.07; Unmatched score:0.24; Average GERP:-0.32830900000000013 GeneName:SCN1A-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000236107; TranscriptID:ENST00000597623; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SCN1A; CADD-Score:2; Consquence:intron; GeneID:ENSG00000144285; TranscriptID:ENST00000303395; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003149 23266558 NONHSAT108734.2 rs3094188 C N/A 372 japanese ancestry cases,3,389 japanese ancestry controls; up to 1,151 japanese ancestry cases//up to 15,800 japanese ancestry controls EFO_0000384 N/A Associate Crohn's disease rs3094188-C of NONHSAT108734.2 is significantly associated with the crohn's disease by using GWAS analysis in 372 japanese ancestry cases,3,389 japanese ancestry controls; up to 1,151 japanese ancestry cases//up to 15,800 japanese ancestry controls(p-value = 7E-7 ;OR = 1.61). 0.4 A genome-wide association study identifies 2 susceptibility Loci for Crohn's disease in a Japanese population. genome-wide association analysis NONHSAT108734.2 lncRNA Crohn's disease 0.33 CCTTCCAACT(C > A)AGACATAAAA chr6: 31174468 0.2953,0.7047 0.30808008409785932,0.69191991590214067 Region score:0.11; TSS score:0.15; Unmatched score:0.2; Average GERP:-0.3258737623762376 GeneName:POU5F1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000204531; TranscriptID:ENST00000259915; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PSORS1C3; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000204528; TranscriptID:ENST00000412143; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003150 23400010 NONHSAT176545.1 rs11077614 G N/A 425 european ancestry cases//342 african american cases EFO_0000537 Thiazide-induced Associate Thiazide-induced adverse metabolic effects in hypertensive patients rs11077614-G of NONHSAT176545.1 is significantly associated with the thiazide-induced adverse metabolic effects in hypertensive patients by using GWAS analysis in 425 european ancestry cases//342 african american cases(p-value = 3E-6 ;OR = 3.25). 0.4 Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans. genome-wide association analysis NONHSAT176545.1 lncRNA Hypertension 0.33 AAATTAGCAA(G > A)TCAAAACCCC chr17: 72598490 0.6817,0.3183 0.59012646534148827,0.40987353465851172 Region score:0.34; TSS score:0.37; Unmatched score:0.41; Average GERP:-0.41214059405940584 GeneName:LINC00511; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000227036; TranscriptID:ENST00000581549; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003151 23342264 miR-142 rs1240205037 A Dominant 56 dlbcl cases EFO_0000403 N/A Increasing risk Diffuse large b-cell lymphoma rs1240205037-A of miR-142 and its dysfunction is significantly associated with the increasing risk of diffuse large B-cell lymphoma by using analysis of sequence variation in 56 DLBCL cases. 0.4 MicroRNA-142 is mutated in about 20% of diffuse large B-cell lymphoma. analysis of sequence variation hsa-mir-142 miRNA Diffuse large b-cell lymphoma 0.33 TGTTAGTAGT(G > A)CTTTCTACTT chr17: 58331289 N/A RS=1240205037;RSPOS=58331289;dbSNPBuildID=151;SSR=0;SAO=0;VP=0x050000080005000002000100;GENEINFO=TSPOAP1-AS1:100506779|MIR142:406934;WGT=1;VC=SNV;INT;ASP N/A GeneName:AC004687.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000265206; TranscriptID:ENST00000579003; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR142; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000284353; TranscriptID:ENST00000384835; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR4736; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000264399; TranscriptID:ENST00000581591; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000096246; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TSPOAP1-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000265148; TranscriptID:ENST00000580515; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TSPOAP1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000005379; TranscriptID:ENST00000343736; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003152 27325353 NONHSAT054540.2 rs2671668 A N/A 9,822 european ancestry individuals EFO_0007999 N/A Associate Lower body strength rs2671668-A of NONHSAT054540.2 is significantly associated with the lower body strength by using GWAS analysis in 9,822 european ancestry individuals(p-value = 9E-6 ;OR = 4.46). 0.4 GWAS analysis of handgrip and lower body strength in older adults in the CHARGE consortium. genome-wide association analysis NONHSAT054540.2 lncRNA Lower body strength measurement 0.33 TGTTGTTTTT(A > C,T)TAACCCTCAT chr17: 49461660 0.1278,.,0.8722 0.17301382517838939,0.00374299184505606,0.82324318297655453 Region score:0.35; TSS score:0.37; Unmatched score:0.67; Average GERP:0.4682221782178216 GeneName:AC091180.5; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000262039; TranscriptID:ENST00000576461; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LINC02075; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000249497; TranscriptID:ENST00000509950; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000557950; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003153 25961943 NONHSAT213445.1 rs10260606 C N/A up to 62,166 european ancestry individuals EFO_0000319 N/A Associate Cholesterol//total rs10260606-C of NONHSAT213445.1 is significantly associated with the cholesterol//total by using GWAS analysis in up to 62,166 european ancestry individuals(p-value = 1E-11 ;OR = 0.05). 0.4 The impact of low-frequency and rare variants on lipid levels. genome-wide association analysis NONHSAT213445.1 lncRNA Cardiovascular disease 0.33 TTGGGGTAAC(G > A,C)AGCCTGCCGG chr7: 44544952 0.7374,.,0.2626 0.76435875382262996,0.00005574668705402,0.23558549949031600 Region score:0.41; TSS score:0.57; Unmatched score:0.42; Average GERP:-0.8001910891089109 GeneName:NPC1L1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000015520; TranscriptID:ENST00000289547; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003154 28393844 LINC00305 rs2850711 ? Dominant 17 patients with atherosclerosis and 7 healthy controls EFO_0003914 N/A Increasing risk Atherosclerosis rs2850711-? of LINC00305 and its dysfunction is significantly associated with the increasing risk of atherosclerosis by using genome-wide association analysis in 17 patients with atherosclerosis and 7 healthy controls. By using the disease cell lines or tissues, the interference of LINC00305 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. Moreover, the ncRNA variation-disease association was validated by complex experiments. 1.4 Long noncoding RNA LINC00305 promotes inflammation by activating the AHRR-NF-kappaB pathway in human monocytes. genome-wide association analysis; Function; Mechanism LINC00305 lncRNA Atherosclerosis 0.753 GTTCTACCTC(A > T)AAGACCGATC chr18: 64119804 0.8774,0.1226 0.85884142456676860,0.14115857543323139 Region score:0.34; TSS score:0.32; Unmatched score:0.08; Average GERP:-0.2071519801980198 GeneName:LINC00305; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000179676; TranscriptID:ENST00000323355; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LINC01924; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000267134; TranscriptID:ENST00000589376; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000578658; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003155 28714907 NONHSAT200225.1 rs1372680 A N/A 1,331 german ancestry cases//1,934 german ancestry controls EFO_0003829 N/A Associate Alcohol dependence rs1372680-A of NONHSAT200225.1 is significantly associated with the alcohol dependence by using GWAS analysis in 1,331 german ancestry cases//1,934 german ancestry controls(p-value = 3E-6 ;OR = 1.482). 0.4 Genetic Contribution to Alcohol Dependence: Investigation of a Heterogeneous German Sample of Individuals with Alcohol Dependence, Chronic Alcoholic Pancreatitis, and Alcohol-Related Cirrhosis.LID - E183 [pii]LID - 10.3390/genes8070183 [doi genome-wide association analysis NONHSAT200225.1 lncRNA Alcohol dependence 0.33 TCCTAACACT(C > A,T)ATTCCTGGCT chr4: 99383388 0.8936,0.1064,. 0.90530230632008154,0.09468176605504587,0.00001592762487257 Region score:0.29; TSS score:0.41; Unmatched score:0.27; Average GERP:-0.7369651485148514 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000731256; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003156 28240269 NONHSAT207123.1 rs7775228 ? N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0008047 N/A Associate Blood protein levels rs7775228-? of NONHSAT207123.1 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 3E-6 ;OR = ?). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. genome-wide association analysis NONHSAT207123.1 lncRNA C-c motif chemokine 19 measurement 0.33 CTAGGCAAGA(T > C)TGTGATTGAA chr6: 32690302 0.7861,0.2139 0.84386149337410805,0.15613850662589194 Region score:0.29; TSS score:0.39; Unmatched score:0.39; Average GERP:-0.010510891089108914 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003157 20935629 NONHSAT213292.1 rs1055144 T N/A up to 77,167 european ancestry individuals; up to 113,636 european ancestry individuals EFO_0004343 N/A Associate Waist-hip ratio rs1055144-T of NONHSAT213292.1 is significantly associated with the waist-hip ratio by using GWAS analysis in up to 77,167 european ancestry individuals; up to 113,636 european ancestry individuals(p-value = 1E-24 ;OR = 0.04). 0.4 Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution. genome-wide association analysis NONHSAT213292.1 lncRNA Waist-hip ratio 0.33 CTCTCTTTTC(C > T)TCTCTGTGTT chr7: 25831489 0.7494,0.2506 0.83870890672782874,0.16129109327217125 Region score:0.53; TSS score:0.52; Unmatched score:0.27; Average GERP:0.42235900990098985 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000819552; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003158 25032714 ANRIL rs1333049 C Dominant 988 patients from an angiologic outpatient ward at a large university hospital EFO_0000612 N/A Increasing risk Myocardial infarction rs1333049-C of ANRIL and its dysfunction is significantly associated with the increasing risk of myocardial infarction by using case-control analysis in 988 patients from an angiologic outpatient ward at a large University hospital. 0.4 9p21.3 risk locus is associated with first-ever myocardial infarction in an Austrian cohort. case-control analysis ANRIL lncRNA Myocardial infarction 0.33 ATCAACAGTT(G > C)AAAAGCAGCC chr9: 22125504 0.5819,0.4181 0.58608084862385321,0.41391915137614678 Region score:0.28; TSS score:0.23; Unmatched score:0.16; Average GERP:-0.2969128712871284 GeneName:CDKN2B-AS1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000240498; TranscriptID:ENST00000428597; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000877606; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003159 26634245 NONHSAT199171.1 rs17766168 A N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs17766168-A of NONHSAT199171.1 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 3E-8 ;OR = 0.056). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT199171.1 lncRNA Pulmonary function measurement 0.33 ATCAAAAAGC(G > A,T)CAGTTCACTG chr4: 144351540 0.727,0.273,. 0.75864870030581039,0.24134333588175331,0.00000796381243628 Region score:0.46; TSS score:0.19; Unmatched score:0.09; Average GERP:-0.9396554455445544 GeneName:AC098588.1; CADD-Score:2; Consquence:intron,NMD; GeneID:ENSG00000285713; TranscriptID:ENST00000649263; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC098588.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000285783; TranscriptID:ENST00000650526; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003160 25867405 miR-149 rs71428439 G Dominant 730 unrelated subjects (IS, 348; healthy controls, 382). HP_0002140 N/A decreasing risk Ischemic stroke rs71428439-G of hsa-mir-149 and its dysfunction is significantly associated with the decreasing risk of Ischemic stroke by using case-control analysis in 730 unrelated subjects (IS, 348; healthy controls, 382). 0.9 Effect of a pre-microRNA-149 (miR-149) genetic variation on the risk of ischemic stroke in a Chinese Han population. case-control analysis hsa-mir-149 miRNA Ischemic stroke 0.593 GTGCTGGGGC(A > G)GCTGGAACAA chr2: 240456083 0.856,0.144 0.86584161569826707,0.13415838430173292 Region score:0.31; TSS score:0.43; Unmatched score:0.89; Average GERP:1.6272524752475235 GeneName:AC110619.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000218416; TranscriptID:ENST00000404891; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GPC1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000063660; TranscriptID:ENST00000264039; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR149; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207611; TranscriptID:ENST00000384879; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000133146; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003161 28869590 NONHSAT215675.1 rs12681990 C N/A 6,353 south asian ancestry cases//7,179 south asian ancestry controls//3,871 european ancestry cases//16,427 european ancestry controls//34,840 cases//114,981 controls; 7,888 south asian ancestry cases//20,679 south asian ancestry controls//387 european ancestry cases//2,092 european ancestry controls//19,998 east asian ancestry cases//30,983 east asian ancestry controls EFO_0001360 N/A Associate Type 2 diabetes rs12681990-C of NONHSAT215675.1 is significantly associated with the type 2 diabetes by using GWAS analysis in 6,353 south asian ancestry cases//7,179 south asian ancestry controls//3,871 european ancestry cases//16,427 european ancestry controls//34,840 cases//114,981 controls; 7,888 south asian ancestry cases//20,679 south asian ancestry controls//387 european ancestry cases//2,092 european ancestry controls//19,998 east asian ancestry cases//30,983 east asian ancestry controls(p-value = 3E-9 ;OR = 1.05). 0.4 Identification of new susceptibility loci for type 2 diabetes and shared etiological pathways with coronary heart disease. genome-wide association analysis NONHSAT215675.1 lncRNA Type ii diabetes mellitus 0.33 TCTCCACATT(T > C)AACCACGCTC chr8: 37001668 0.7039,0.2961 0.73361843781855249,0.26638156218144750 Region score:0.43; TSS score:0.36; Unmatched score:0.1; Average GERP:-0.20342475247524744 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003162 23648065 NONHSAT164697.1 rs894734 G N/A 294 japanese ancestry cases//2,249 japanese ancestry controls DOID_615 all antimetabolite drugs Associate Adverse response to chemotherapy (neutropenia/leucopenia) rs894734-G of NONHSAT164697.1 is significantly associated with the adverse response to chemotherapy (neutropenia/leucopenia) by using GWAS analysis in 294 japanese ancestry cases//2,249 japanese ancestry controls(p-value = 4E-6 ;OR = 1.619). 0.4 Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan. genome-wide association analysis NONHSAT164697.1 lncRNA Leukopenia 0.33 GTGACAGAAC(A > G)CAAAAATGAA chr12: 53925943 0.4101,0.5899 0.40578013506625891,0.59421986493374108 Region score:0.44; TSS score:0.48; Unmatched score:0.22; Average GERP:0.16719990099009904 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000458623; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003163 22778062 SNORA53 rs7955537 T N/a N/a function N/A Not significant changes in the structure Function rs7955537-T of SNORA53 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORA53 snoRNA Function -0.049 TATCAGGACT(C > G,T)GACTCGTGTG chr12: 98599865 0.982,.,0.01797 0.98267074413863404,0.00003981906218144,0.01728943679918450 Region score:0.57; TSS score:0.2; Unmatched score:0.55; Average GERP:2.0886475247524747 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000467161; AnnoType:REGULATORY; mirSVR-Score:-0.9799; mirSVR-E:-13.13 | GeneName:SLC25A3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000075415; TranscriptID:ENST00000228318; AnnoType:INTRONIC; mirSVR-Score:-0.9799; mirSVR-E:-13.13 | GeneName:SNORA53; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000212443; TranscriptID:ENST00000391141; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.9799; mirSVR-E:-13.13 | NCRV0000003164 28416818 NONHSAT157147.1 rs7394190 G N/A 7,323 european ancestry cases//102,776 european ancestry controls.; EFO_0000275 N/A Associate Incident atrial fibrillation rs7394190-G of NONHSAT157147.1 is significantly associated with the incident atrial fibrillation by using GWAS analysis in 7,323 european ancestry cases//102,776 european ancestry controls.; (p-value = 3E-8 ;OR = 1.15). 0.4 Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation. genome-wide association analysis NONHSAT157147.1 lncRNA Atrial fibrillation 0.33 TAGTAATACC(G > A,T)AATATTCAAG chr10: 73661890 0.5871,0.4129,. 0.65053198267074413,0.34946005351681957,0.00000796381243628 Region score:0.11; TSS score:0.25; Unmatched score:0.17; Average GERP:0.09536363636363651 GeneName:AC073389.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000271848; TranscriptID:ENST00000606726; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000407937; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SYNPO2L; CADD-Score:2; Consquence:intron; GeneID:ENSG00000166317; TranscriptID:ENST00000606523; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003165 22818121 miR-219-1 rs213210 G N/A 388 patients with NSCLC EFO_0003060 N/A no significance for risk non-small cell lung carcinoma rs213210-G of hsa-mir-219a-1 and its dysfunction is not significantly associated with Non-small cell lung carcinoma by using analysis of sequence variation in 388 patients with NSCLC -0.4 The prognostic impact of microRNA sequence polymorphisms on the recurrence of patients with completely resected non-small cell lung cancer. analysis of sequence variation hsa-mir-219a-1 miRNA Non-small cell lung carcinoma -0.33 GTGTGTTCTC(A > C,G)GGACTAGAAG chr6: 33208047 0.8251,.,0.1749 0.89192310142711518,0.00001592762487257,0.10806097094801223 Region score:0.27; TSS score:0.57; Unmatched score:0.93; Average GERP:-0.5706584158415842 GeneName:HSD17B8; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000204228; TranscriptID:ENST00000374662; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR219A1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000199036; TranscriptID:ENST00000362166; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000195766; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RING1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000204227; TranscriptID:ENST00000374656; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SLC39A7; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000112473; TranscriptID:ENST00000374677; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003166 28135244 NONHSAT152568.1 rs1057239 A N/A 140,886 european ancestry individuals; 190,318 european ancestry individuals EFO_0006336 N/A Associate Diastolic blood pressure rs1057239-A of NONHSAT152568.1 is significantly associated with the diastolic blood pressure by using GWAS analysis in 140,886 european ancestry individuals; 190,318 european ancestry individuals(p-value = 4E-6 ;OR = 0.1253). 0.4 Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk. genome-wide association analysis NONHSAT152568.1 lncRNA Diastolic blood pressure 0.33 GCAGGTCCTG(G > A)GCTCAAAAGG chr1: 175161068 0.6853,0.3147 0.60912812181447502,0.39087187818552497 Region score:0.69; TSS score:0.55; Unmatched score:0.77; Average GERP:-0.4729702970297028 GeneName:KIAA0040; CADD-Score:3; Consquence:5_prime_UTR; GeneID:ENSG00000235750; TranscriptID:ENST00000545251; AnnoType:5PRIME_UTR; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003167 23544013 NONHSAT099095.2 rs4691139 G N/A 683 european ancestry cases//2,044 european ancestry controls; 1,706 european ancestry cases//10,258 european ancestry controls EFO_0001075 N/A Associate Ovarian cancer in brca1 mutation carriers rs4691139-G of NONHSAT099095.2 is significantly associated with the ovarian cancer in brca1 mutation carriers by using GWAS analysis in 683 european ancestry cases//2,044 european ancestry controls; 1,706 european ancestry cases//10,258 european ancestry controls(p-value = 3E-8 ;OR = 1.2). 0.4 Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk. genome-wide association analysis NONHSAT099095.2 lncRNA Ovarian cancer 0.451 GTTCAGCTCT(A > G,T)GATTAGTCCA chr4: 164987569 0.3632,0.6368,. 0.44282779051987767,0.55713239041794087,0.00003981906218144 Region score:0.1; TSS score:0.07; Unmatched score:0.53; Average GERP:-1.2828287128712874 GeneName:AC106872.4; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000248229; TranscriptID:ENST00000510050; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003167 28346442 NONHSAT099095.2 rs4691139 G N/A 2,933 european ancestry carrier cases//16,103 european ancestry carrier controls EFO_0001075 N/A Associate Ovarian cancer in brca1 mutation carriers rs4691139-G of NONHSAT099095.2 is significantly associated with the ovarian cancer in brca1 mutation carriers by using GWAS analysis in 2,933 european ancestry carrier cases//16,103 european ancestry carrier controls(p-value = 4E-7 ;OR = 1.1581223). 0.4 Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer. genome-wide association analysis NONHSAT099095.2 lncRNA Ovarian cancer 0.451 GTTCAGCTCT(A > G,T)GATTAGTCCA chr4: 164987569 0.3632,0.6368,. 0.44282779051987767,0.55713239041794087,0.00003981906218144 Region score:0.1; TSS score:0.07; Unmatched score:0.53; Average GERP:-1.2828287128712874 GeneName:AC106872.4; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000248229; TranscriptID:ENST00000510050; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003168 25282103 NONHSAT096531.2 rs17081935 T N/A 253,288 european ancestry individuals; 80,067 european ancestry individuals EFO_0004339 N/A Associate Height rs17081935-T of NONHSAT096531.2 is significantly associated with the height by using GWAS analysis in 253,288 european ancestry individuals; 80,067 european ancestry individuals(p-value = 7E-17 ;OR = 0.031). 0.4 Defining the role of common variation in the genomic and biological architecture of adult human height. genome-wide association analysis NONHSAT096531.2 lncRNA Body height 0.451 TATTCTCTAA(C > A,T)GTGTCTGCTT chr4: 56957310 0.7813,.,0.2187 0.81541475535168195,0.00001592762487257,0.18456931702344546 Region score:0.36; TSS score:0.39; Unmatched score:0.2; Average GERP:-0.8117405940594058 GeneName:AC069307.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000269949; TranscriptID:ENST00000602820; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:REST; CADD-Score:2; Consquence:intron; GeneID:ENSG00000084093; TranscriptID:ENST00000640343; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003168 20881960 NONHSAT096531.2 rs17081935 T N/A 133,653 european ancestry individuals; 50,074 european ancestry individuals EFO_0004339 N/A Associate Height rs17081935-T of NONHSAT096531.2 is significantly associated with the height by using GWAS analysis in 133,653 european ancestry individuals; 50,074 european ancestry individuals(p-value = 4E-11 ;OR = 0.03). 0.4 Hundreds of variants clustered in genomic loci and biological pathways affect human height. genome-wide association analysis NONHSAT096531.2 lncRNA Body height 0.451 TATTCTCTAA(C > A,T)GTGTCTGCTT chr4: 56957310 0.7813,.,0.2187 0.81541475535168195,0.00001592762487257,0.18456931702344546 Region score:0.36; TSS score:0.39; Unmatched score:0.2; Average GERP:-0.8117405940594058 GeneName:AC069307.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000269949; TranscriptID:ENST00000602820; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:REST; CADD-Score:2; Consquence:intron; GeneID:ENSG00000084093; TranscriptID:ENST00000640343; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003169 24509480 NONHSAT079869.2 rs4812829 A N/A 12,171 european ancestry cases//56,862 european ancestry controls//6,952 east asian ancestry cases//11,865 east asian ancestry controls//5,561 south asian ancestry cases//14,458 south asian ancestry controls//1,804 mexican ancestry cases//779 mexican ancestry controls; 21,491 european ancestry cases//55,647 european ancestry controls EFO_0001360 N/A Associate Type 2 diabetes rs4812829-A of NONHSAT079869.2 is significantly associated with the type 2 diabetes by using GWAS analysis in 12,171 european ancestry cases//56,862 european ancestry controls//6,952 east asian ancestry cases//11,865 east asian ancestry controls//5,561 south asian ancestry cases//14,458 south asian ancestry controls//1,804 mexican ancestry cases//779 mexican ancestry controls; 21,491 european ancestry cases//55,647 european ancestry controls(p-value = 5E-8 ;OR = 1.07). 0.4 Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. genome-wide association analysis NONHSAT079869.2 lncRNA Type ii diabetes mellitus 0.52 GCATCTTCAA(G > A)TGCTCTAAAC chr20: 44360627 0.7446,0.2554 0.80903574159021406,0.19096425840978593 Region score:0.27; TSS score:0.18; Unmatched score:0.21; Average GERP:-0.21771613861386135 GeneName:HNF4A; CADD-Score:2; Consquence:intron; GeneID:ENSG00000101076; TranscriptID:ENST00000316673; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003169 21874001 NONHSAT079869.2 rs4812829 A N/A 5,561 south asian ancestry cases//14,458 south asian ancestry controls; 13,170 south asian ancestry cases//25,398 south asian ancestry controls EFO_0001360 N/A Associate Type 2 diabetes rs4812829-A of NONHSAT079869.2 is significantly associated with the type 2 diabetes by using GWAS analysis in 5,561 south asian ancestry cases//14,458 south asian ancestry controls; 13,170 south asian ancestry cases//25,398 south asian ancestry controls(p-value = 3E-10 ;OR = 1.09). 0.4 Genome-wide association study in individuals of South Asian ancestry identifies six new type 2 diabetes susceptibility loci. genome-wide association analysis NONHSAT079869.2 lncRNA Type ii diabetes mellitus 0.52 GCATCTTCAA(G > A)TGCTCTAAAC chr20: 44360627 0.7446,0.2554 0.80903574159021406,0.19096425840978593 Region score:0.27; TSS score:0.18; Unmatched score:0.21; Average GERP:-0.21771613861386135 GeneName:HNF4A; CADD-Score:2; Consquence:intron; GeneID:ENSG00000101076; TranscriptID:ENST00000316673; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003169 28869590 NONHSAT079869.2 rs4812829 A N/A 6,353 south asian ancestry cases//7,179 south asian ancestry controls//3,871 european ancestry cases//16,427 european ancestry controls//34,840 cases//114,981 controls; 7,888 south asian ancestry cases//20,679 south asian ancestry controls//387 european ancestry cases//2,092 european ancestry controls//19,998 east asian ancestry cases//30,983 east asian ancestry controls EFO_0001360 N/A Associate Type 2 diabetes rs4812829-A of NONHSAT079869.2 is significantly associated with the type 2 diabetes by using GWAS analysis in 6,353 south asian ancestry cases//7,179 south asian ancestry controls//3,871 european ancestry cases//16,427 european ancestry controls//34,840 cases//114,981 controls; 7,888 south asian ancestry cases//20,679 south asian ancestry controls//387 european ancestry cases//2,092 european ancestry controls//19,998 east asian ancestry cases//30,983 east asian ancestry controls(p-value = 4E-10 ;OR = 0.057). 0.4 Identification of new susceptibility loci for type 2 diabetes and shared etiological pathways with coronary heart disease. genome-wide association analysis NONHSAT079869.2 lncRNA Type ii diabetes mellitus 0.52 GCATCTTCAA(G > A)TGCTCTAAAC chr20: 44360627 0.7446,0.2554 0.80903574159021406,0.19096425840978593 Region score:0.27; TSS score:0.18; Unmatched score:0.21; Average GERP:-0.21771613861386135 GeneName:HNF4A; CADD-Score:2; Consquence:intron; GeneID:ENSG00000101076; TranscriptID:ENST00000316673; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003170 25673412 NONHSAT141480.2 rs2650492 A N/A up to 56,910 european ancestry men//up to 86,570 european ancestry women; up to 36,570 european ancestry men//30,172 european ancestry women//915 filipino ancestry men//735 filipino ancestry women//2,351 african american/afro-caribbean ancestry men//6,258 african american/afro-caribbean ancestry women//2,285 south asian ancestry men//506 south asian ancestry women//195 seychellois ancestry men//266 seychellois ancestry women EFO_0004342 N/A Associate Waist circumference rs2650492-A of NONHSAT141480.2 is significantly associated with the waist circumference by using GWAS analysis in up to 56,910 european ancestry men//up to 86,570 european ancestry women; up to 36,570 european ancestry men//30,172 european ancestry women//915 filipino ancestry men//735 filipino ancestry women//2,351 african american/afro-caribbean ancestry men//6,258 african american/afro-caribbean ancestry women//2,285 south asian ancestry men//506 south asian ancestry women//195 seychellois ancestry men//266 seychellois ancestry women(p-value = 2E-11 ;OR = 0.0256). 0.4 New genetic loci link adipose and insulin biology to body fat distribution. genome-wide association analysis NONHSAT141480.2 lncRNA Waist circumference 0.33 GTGGACACCA(G > A)GGGGCGAGTG chr16: 28322090 0.8868,0.1132 0.81419629204892966,0.18580370795107033 Region score:0.55; TSS score:0.78; Unmatched score:0.65; Average GERP:-1.5620792079207917 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000280223; AnnoType:REGULATORY; mirSVR-Score:-0.0293; mirSVR-E:-23.71 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000534908; AnnoType:REGULATORY; mirSVR-Score:-0.0293; mirSVR-E:-23.71 | GeneName:SBK1; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000188322; TranscriptID:ENST00000341901; AnnoType:3PRIME_UTR; mirSVR-Score:-0.0293; mirSVR-E:-23.71 | NCRV0000003171 22959728 NONHSAT174934.1 rs7477 T N/A 4,243 european ancestry cases//5,112 european ancestry controls EFO_0000253 N/A Associate Amyotrophic lateral sclerosis rs7477-T of NONHSAT174934.1 is significantly associated with the amyotrophic lateral sclerosis by using GWAS analysis in 4,243 european ancestry cases//5,112 european ancestry controls(p-value = 3E-7 ;OR = 1.3). 0.4 Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1. genome-wide association analysis NONHSAT174934.1 lncRNA Amyotrophic lateral sclerosis 0.451 GACCCTAGTC(A > C)ACGGAACCAG chr17: 16342702 0.7704,0.2296 0.64887550968399592,0.35112449031600407 Region score:0.39; TSS score:0.43; Unmatched score:0.67; Average GERP:-0.698444554455446 GeneName:CENPV; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000166582; TranscriptID:ENST00000299736; AnnoType:3PRIME_UTR; mirSVR-Score:-0.5178; mirSVR-E:-23.87 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000550354; AnnoType:REGULATORY; mirSVR-Score:-0.5178; mirSVR-E:-23.87 | GeneName:PIGL; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000108474; TranscriptID:ENST00000431149; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.5178; mirSVR-E:-23.87 | NCRV0000003171 24931836 NONHSAT174934.1 rs7477 A N/A 4,377 european ancestry cases//13,017 european ancestry controls EFO_0000253 N/A Associate Amyotrophic lateral sclerosis rs7477-A of NONHSAT174934.1 is significantly associated with the amyotrophic lateral sclerosis by using GWAS analysis in 4,377 european ancestry cases//13,017 european ancestry controls(p-value = 3E-7 ;OR = 1.16). 0.4 C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysis. genome-wide association analysis NONHSAT174934.1 lncRNA Amyotrophic lateral sclerosis 0.451 GACCCTAGTC(A > C)ACGGAACCAG chr17: 16342702 0.7704,0.2296 0.64887550968399592,0.35112449031600407 Region score:0.39; TSS score:0.43; Unmatched score:0.67; Average GERP:-0.698444554455446 GeneName:CENPV; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000166582; TranscriptID:ENST00000299736; AnnoType:3PRIME_UTR; mirSVR-Score:-0.5178; mirSVR-E:-23.87 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000550354; AnnoType:REGULATORY; mirSVR-Score:-0.5178; mirSVR-E:-23.87 | GeneName:PIGL; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000108474; TranscriptID:ENST00000431149; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.5178; mirSVR-E:-23.87 | NCRV0000003172 27863252 NONHSAT107130.2 rs138692864 A N/A 171,529 european ancestry individuals EFO_0005192 N/A Associate Red cell distribution width rs138692864-A of NONHSAT107130.2 is significantly associated with the red cell distribution width by using GWAS analysis in 171,529 european ancestry individuals(p-value = 3E-10 ;OR = 0.1671573). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT107130.2 lncRNA Red blood cell distribution width 0.33 TACAGGTTAG(T > A)TTTTCCTGTT chr6: 3466533 0.999,0.0009984 0.99645610346585117,0.00354389653414882 Region score:0.35; TSS score:0.31; Unmatched score:0.16; Average GERP:-1.0823851485148517 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000781259; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003173 19448621 NONHSAT105374.2 rs365132 T N/A 17,438 european ancestry female individuals EFO_0004704 N/A Associate Menarche and menopause (age at onset) rs365132-T of NONHSAT105374.2 is significantly associated with the menarche and menopause (age at onset) by using GWAS analysis in 17,438 european ancestry female individuals(p-value = 8E-14 ;OR = 0.39). 0.4 Genome-wide association studies identify loci associated with age at menarche and age at natural menopause. genome-wide association analysis NONHSAT105374.2 lncRNA Age at menopause 0.451 AACTTAGCTG(G > T)GTCTCTGTAA chr5: 176951573 0.4115,0.5885 0.41698521916411824,0.58301478083588175 Region score:0.46; TSS score:0.55; Unmatched score:0.76; Average GERP:1.5755752475247526 GeneName:UIMC1; CADD-Score:5; Consquence:synonymous; GeneID:ENSG00000087206; TranscriptID:ENST00000377227; AnnoType:SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003173 22267201 NONHSAT105374.2 rs365132 T N/A 38,968 european ancestry female individuals; up to 14,435 european ancestry female individuals EFO_0004704 N/A Associate Menopause (age at onset) rs365132-T of NONHSAT105374.2 is significantly associated with the menopause (age at onset) by using GWAS analysis in 38,968 european ancestry female individuals; up to 14,435 european ancestry female individuals(p-value = 9E-32 ;OR = 0.287). 0.4 Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. genome-wide association analysis NONHSAT105374.2 lncRNA Age at menopause 0.451 AACTTAGCTG(G > T)GTCTCTGTAA chr5: 176951573 0.4115,0.5885 0.41698521916411824,0.58301478083588175 Region score:0.46; TSS score:0.55; Unmatched score:0.76; Average GERP:1.5755752475247526 GeneName:UIMC1; CADD-Score:5; Consquence:synonymous; GeneID:ENSG00000087206; TranscriptID:ENST00000377227; AnnoType:SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003174 23251661 NONHSAT222090.1 rs1443438 A N/A 815 hispanic children from 263 families EFO_0004748 N/A Associate Obesity-related traits rs1443438-A of NONHSAT222090.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 1E-9 ;OR = 0.04). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. genome-wide association analysis NONHSAT222090.1 lncRNA Thyroid stimulating hormone measurement 0.33 AGATGTTGCA(T > A,C)GGAGCACTGG chr9: 97787746 0.2075,.,0.7925 0.26740093017329255,0.00113882517838939,0.73146024464831804 Region score:0.35; TSS score:0.34; Unmatched score:0.09; Average GERP:-0.249229702970297 GeneName:PTCSC2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000236130; TranscriptID:ENST00000649461; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003175 25987655 NONHSAT135763.2 rs7865267 T N/A 3,126 child cases; 182 child cases EFO_0004881 N/A Associate Asparaginase hypersensitivity in acute lymphoblastic leukemia rs7865267 -T of NONHSAT135763.2 is significantly associated with the asparaginase hypersensitivity in acute lymphoblastic leukemia by using GWAS analysis in 3,126 child cases; 182 child cases(p-value = 3E-6 ;OR = 2.012). 0.4 Genome-wide analysis links NFATC2 with asparaginase hypersensitivity. genome-wide association analysis NONHSAT135763.2 lncRNA Asparaginase hypersensitivity 0.33 CGGTCATGTA(C > T)GTGAAGCACT chr9: 138043623 0.7662,0.2338 0.81060461264016309,0.18939538735983690 Region score:0.29; TSS score:0.36; Unmatched score:0.34; Average GERP:-2.136306930693069 GeneName:CACNA1B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000148408; TranscriptID:ENST00000371372; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003176 28928442 NONHSAT174966.1 rs11658309 ? N/A 52,487 european ancestry cases//22,017 european ancestry controls EFO_0008408 N/A Associate Strep throat rs11658309-? of NONHSAT174966.1 is significantly associated with the strep throat by using GWAS analysis in 52,487 european ancestry cases//22,017 european ancestry controls(p-value = 5E-7 ;OR = 0.0286). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. genome-wide association analysis NONHSAT174966.1 lncRNA Susceptibility to strep throat measurement 0.33 GGCCAGGCTG(T > G)TCTTGAACTC chr17: 17858933 0.636,0.364 0.47790042048929663,0.52209957951070336 Region score:0.14; TSS score:0.05; Unmatched score:0.25; Average GERP:-0.1780297029702967 GeneName:AC122129.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000197815; TranscriptID:ENST00000354746; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TOM1L2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000175662; TranscriptID:ENST00000379504; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003177 18821564 NONHSAT205290.1 rs11134178 T N/A 105 european ancestry cases//34 hispanic cases//26 african american cases//22 cases EFO_0003888 N/A Associate Attention deficit hyperactivity disorder rs11134178-T of NONHSAT205290.1 is significantly associated with the attention deficit hyperactivity disorder by using GWAS analysis in 105 european ancestry cases//34 hispanic cases//26 african american cases//22 cases(p-value = 3E-6 ;OR = ?). 0.4 Genome-wide association study of response to methylphenidate in 187 children with attention-deficit/hyperactivity disorder. genome-wide association analysis NONHSAT205290.1 lncRNA Attention deficit hyperactivity disorder 0.33 GTCACTAACC(T > C)GAAGGCCATG chr5: 6834054 0.9754,0.02456 0.96437786697247706,0.03562213302752293 Region score:0.19; TSS score:0.26; Unmatched score:0.21; Average GERP:-1.1090009900990094 GeneName:LINC02236; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000251365; TranscriptID:ENST00000648399; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003178 25740697 piR_015481 rs2070766 G N/a 1147 patients with crc (cases) and 1203 cancer漏free individuals EFO_0005842 N/A No significance for risk Colorectal cancer rs2070766-G of piR_015481 and its dysfunction is not significantly associated with colorectal cancer by using case-control analysis in 1147 patients with CRC (cases) and 1203 cancer漏free individuals . -0.4 Genetic variants in noncoding PIWI-interacting RNA and colorectal cancer risk. case-control analysis piR_015481 piRNA Colorectal cancer -0.33 CCTCCTCCCC(C > A,G,T)CGCAGGGTCT chr22: 23895034 0.8265,.,0.1735,. 0.82873821355759429,.,0.17123789500509683,0.00002389143730886 Region score:0.42; TSS score:0.51; Unmatched score:0.93; Average GERP:1.0667227722772277 GeneName:AP000350.4; CADD-Score:5; Consquence:splice,intron; GeneID:ENSG00000251357; TranscriptID:ENST00000433835; AnnoType:SPLICE_SITE; mirSVR-Score:-0.1886; mirSVR-E:-15.78 | GeneName:MIF-AS1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000218537; TranscriptID:ENST00000406213; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.1886; mirSVR-E:-15.78 | GeneName:MIF; CADD-Score:5; Consquence:splice,intron; GeneID:ENSG00000240972; TranscriptID:ENST00000215754; AnnoType:SPLICE_SITE; mirSVR-Score:-0.1886; mirSVR-E:-15.78 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000144308; AnnoType:REGULATORY; mirSVR-Score:-0.1886; mirSVR-E:-15.78 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000668130; AnnoType:REGULATORY; mirSVR-Score:-0.1886; mirSVR-E:-15.78 | NCRV0000003179 25461247 NONHSAT215574.1 rs9314308 C N/A up to 737 european ancestry individuals//up to 545 black individuals//up to 314 hispanic individuals EFO_0000180 N/A Associate Response to efavirenz-containing treatment in hiv 1 infection (virologic failure) rs9314308-C of NONHSAT215574.1 is significantly associated with the response to efavirenz-containing treatment in hiv 1 infection (virologic failure) by using GWAS analysis in up to 737 european ancestry individuals//up to 545 black individuals//up to 314 hispanic individuals(p-value = 9E-6 ;OR = 1.55). 0.4 Genome-wide association study of virologic response with efavirenz-containing or abacavir-containing regimens in AIDS clinical trials group protocols. genome-wide association analysis NONHSAT215574.1 lncRNA Hiv-1 infection 0.33 TGTGGTACCT(C > G)TGGCTCTTCT chr8: 25687163 0.5118,0.4882 0.48666061416921508,0.51333938583078491 Region score:0.35; TSS score:0.43; Unmatched score:0.53; Average GERP:-0.012608415841584123 GeneName:AC009623.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253100; TranscriptID:ENST00000517964; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000850515; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003180 27323017 let-7 rs10877887 C Dominant 89 hcc patients and 95 healthy controls in a chinese populations EFO_0000182 N/A Increased risk and poor prognosis Hepatocellular carcinoma rs10877887-C of let-7 and its dysfunction is significantly associated with the increasing risk and poor prognosis of Hepatocellular carcinoma by using case-control analysis in 89 HCC patients and 95 healthy controls in a chinese populations. 0.4 A single nucleotide polymorphism in the promoter region (rs10877887) of let-7 is associated with hepatocellular carcinoma in a Chinese population.LID - 10.4238/gmr.15027661 [doi]AB - Hepatocellular carcinoma (HCC) is a complex polygenic diseas case-control analysis hsa-let-7a-1 miRNA Hepatocellular cancer 0.33 AGCGGCTCTC(T > C)CCGCAGGACA chr12: 62603400 0.602,0.398 0.57891341743119266,0.42108658256880733 Region score:0.44; TSS score:0.42; Unmatched score:0.97; Average GERP:-0.4853336633663367 GeneName:AC048341.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000257354; TranscriptID:ENST00000550290; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC048341.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000275180; TranscriptID:ENST00000619323; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LINC01465; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000221949; TranscriptID:ENST00000408887; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIRLET7I; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000199179; TranscriptID:ENST00000362309; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MON2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000061987; TranscriptID:ENST00000393630; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000052984; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003181 28892062 NONHSAT127778.2 rs12680842 G N/A up to 72,390 japanese ancestry women//up to 85,894 japanese ancestry men; up to 10,048 japanese ancestry women//up to 5,098 japanese ancestry men//up to 181,999 european ancestry women//up to 140,155 european ancestry controls EFO_0001073 N/A Associate Body mass index rs12680842-G of NONHSAT127778.2 is significantly associated with the body mass index by using GWAS analysis in up to 72,390 japanese ancestry women//up to 85,894 japanese ancestry men; up to 10,048 japanese ancestry women//up to 5,098 japanese ancestry men//up to 181,999 european ancestry women//up to 140,155 european ancestry controls(p-value = 2E-11 ;OR = 0.016). 0.4 Genome-wide association study identifies 112 new loci for body mass index in the Japanese population. genome-wide association analysis NONHSAT127778.2 lncRNA Obesity 0.451 ACTGTTGATG(A > G)TCACCTATGC chr8: 94570378 0.6631,0.3369 0.70185079001019367,0.29814920998980632 Region score:0.19; TSS score:0.24; Unmatched score:0.21; Average GERP:-0.061256039603960366 GeneName:AC023632.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000253175; TranscriptID:ENST00000518463; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC023632.2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000253704; TranscriptID:ENST00000523011; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003181 25673413 NONHSAT127778.2 rs12680842 A N/A up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals EFO_0001073 N/A Associate Body mass index rs12680842-A of NONHSAT127778.2 is significantly associated with the body mass index by using GWAS analysis in up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals(p-value = 3E-6 ;OR = 0.015). 0.4 Genetic studies of body mass index yield new insights for obesity biology. genome-wide association analysis NONHSAT127778.2 lncRNA Obesity 0.451 ACTGTTGATG(A > G)TCACCTATGC chr8: 94570378 0.6631,0.3369 0.70185079001019367,0.29814920998980632 Region score:0.19; TSS score:0.24; Unmatched score:0.21; Average GERP:-0.061256039603960366 GeneName:AC023632.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000253175; TranscriptID:ENST00000518463; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC023632.2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000253704; TranscriptID:ENST00000523011; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003182 25477429 NONHSAT196716.1 rs5030062 A N/A 5,275 european ancestry individuals EFO_0000319 N/A Associate Plasma renin activity levels rs5030062-A of NONHSAT196716.1 is significantly associated with the plasma renin activity levels by using GWAS analysis in 5,275 european ancestry individuals(p-value = 9E-9 ;OR = ?). 0.4 Genome-wide meta-analyses of plasma renin activity and concentration reveal association with the kininogen 1 and prekallikrein genes. genome-wide association analysis NONHSAT196716.1 lncRNA Cardiovascular disease 0.33 TTATAGTTTT(A > C)ATCTTGCCTT chr3: 186736391 0.6587,0.3413 0.64970374617737003,0.35029625382262996 Region score:0.17; TSS score:0.1; Unmatched score:0.06; Average GERP:0.247108 GeneName:AC068631.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000197099; TranscriptID:ENST00000627551; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:KNG1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000113889; TranscriptID:ENST00000644859; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003183 21793975 miR-33b hsa-mir-33b Deletion - Dominant 48 medulloblastomas EFO_0002939 N/A Increasing risk Medulloblastomas Deletion of miR-33b and its dysfunction is significantly associated with the increasing risk of medulloblastomas by using analysis of sequence variation in 48 medulloblastomas. 0.4 Genetic alterations in microRNAs in medulloblastomas. analysis of sequence variation; Function hsa-mir-33b miRNA Medulloblastoma 0.33 N/A N/A N/A N/A N/A N/A NCRV0000003184 27989323 NONHSAT157895.1 rs1149926 C N/A 3,682 finnish ancestry individuals EFO_0005140 N/A Associate Stem cell growth factor beta levels rs1149926-C of NONHSAT157895.1 is significantly associated with the stem cell growth factor beta levels by using GWAS analysis in 3,682 finnish ancestry individuals(p-value = 7E-6 ;OR = 0.3378). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. genome-wide association analysis NONHSAT157895.1 lncRNA Autoimmune disease 0.33 GGTCACATTG(C > T)AAGCAATATT chr10: 9148986 0.9603,0.03974 0.95161187563710499,0.04838812436289500 Region score:0.31; TSS score:0.17; Unmatched score:0.01; Average GERP:-1.0142049504950497 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003185 27863252 NONHSAT221416.1 rs8176759 A N/A 164,339 european ancestry individuals EFO_0007985 N/A Associate Plateletcrit rs8176759-A of NONHSAT221416.1 is significantly associated with the plateletcrit by using GWAS analysis in 164,339 european ancestry individuals(p-value = 2E-10 ;OR = 0.04763889). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT221416.1 lncRNA Plateletcrit 0.33 AAACATCATG(G > A)TATTGGCATA chr9: 133254260 0.847,0.153 0.88939060907237512,0.11060939092762487 Region score:0.18; TSS score:0.18; Unmatched score:0.15; Average GERP:0.1058510638297874 GeneName:ABO; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000175164; TranscriptID:ENST00000538324; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003186 29213071 NONHSAT169770.1 rs114194742 T N/A 15,997 hispanic/latino individuals EFO_0004278 N/A Associate Qt interval rs114194742-T of NONHSAT169770.1 is significantly associated with the qt interval by using GWAS analysis in 15,997 hispanic/latino individuals(p-value = 3E-6 ;OR = 14.52). 0.4 GWAS of the electrocardiographic QT interval in Hispanics/Latinos generalizes previously identified loci and identifies population-specific signals. genome-wide association analysis NONHSAT169770.1 lncRNA Sudden cardiac arrest 0.33 TGGTCCTCTC(C > T)CTCAGCGGTC chr14: 104815588 0.9972,0.002796 0.99652777777777777,0.00347222222222222 Region score:0.39; TSS score:0.44; Unmatched score:0.58; Average GERP:0.05882828282828277 GeneName:AL590326.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000279140; TranscriptID:ENST00000625139; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000073723; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000508907; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003187 28636993 circ-ITCH rs6059851 A N/a 1,600 hcc cases and 1,800 cancer-free controls EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs6059851-A of circ-ITCH and its dysfunction is not significantly associated with Hepatocellular carcinoma by using case-control analysis in 1,600 HCC cases and 1,800 cancer-free controls . -0.4 Polymorphisms and expression pattern of circular RNA circ-ITCH contributes to the carcinogenesis of hepatocellular carcinoma. case-control analysis circ-ITCH circRNA Hepatocellular cancer -0.33 TTGGTAGTCT(G > A)TTTTATCTGA chr20: 34460140 0.6016,0.3984 0.56181511213047910,0.43818488786952089 Region score:0.42; TSS score:0.09; Unmatched score:0.17; Average GERP:0.3454198019801977 GeneName:ITCH; CADD-Score:2; Consquence:intron; GeneID:ENSG00000078747; TranscriptID:ENST00000262650; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000649694; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003188 27989323 NONHSAT192463.1 rs199832865 TAGA N/A 3,685 finnish ancestry individuals EFO_0005140 N/A Associate Interferon gamma-induced protein 10 levels rs199832865-TAGA of NONHSAT192463.1 is significantly associated with the interferon gamma-induced protein 10 levels by using GWAS analysis in 3,685 finnish ancestry individuals(p-value = 2E-6 ;OR = 0.7659). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. genome-wide association analysis NONHSAT192463.1 lncRNA Autoimmune disease 0.33 ATCTTTGTTT(TAGA > T)AGAAGAACTG chr22: 44388329 0.998,0.001997 0.99314315749235474,0.00685684250764525 N/A GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003189 27863252 NONHSAT197590.1 rs200516372 G N/A 170,721 european ancestry individuals EFO_0005091 N/A Associate Monocyte count rs200516372-G of NONHSAT197590.1 is significantly associated with the monocyte count by using GWAS analysis in 170,721 european ancestry individuals(p-value = 1E-11 ;OR = 0.05996357). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT197590.1 lncRNA Monocyte count 0.33 AAAAAAAAAG(A > G)AAAGAAAGAA chr3: 141484141 0.8806,0.1194 0.91340946738022426,0.08659053261977573 Region score:0.21; TSS score:0.36; Unmatched score:0.45; Average GERP:0.1886840425531915 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000702933; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RASA2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000155903; TranscriptID:ENST00000286364; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003190 28199695 NONHSAT162383.1 rs10878725 T N/A 41,355 european ancestry men and 43,369 european ancestry women EFO_0008377 N/A Associate Itch intensity from mosquito bite adjusted by bite size rs10878725-T of NONHSAT162383.1 is significantly associated with the itch intensity from mosquito bite adjusted by bite size by using GWAS analysis in 41,355 european ancestry men and 43,369 european ancestry women(p-value = 4E-11 ;OR = 0.0210225). 0.4 GWAS of self-reported mosquito bite size, itch intensity and attractiveness to mosquitoes implicates immune-related predisposition loci. genome-wide association analysis NONHSAT162383.1 lncRNA Mosquito bite reaction itch intensity measurement 0.33 TATACCACTT(C > T)CCCATATACA chr12: 68020930 0.5986,0.4014 0.57022489806320081,0.42977510193679918 Region score:0.44; TSS score:0.22; Unmatched score:0.42; Average GERP:-0.5168343564356437 GeneName:IFNG-AS1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000255733; TranscriptID:ENST00000538665; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003191 28247064 NONHSAT192799.1 rs41157 T N/A 3,146 individuals EFO_0000249 N/A Associate Cerebrospinal p-tau181p levels rs41157-T of NONHSAT192799.1 is significantly associated with the cerebrospinal p-tau181p levels by using GWAS analysis in 3,146 individuals(p-value = 4E-6 ;OR = 0.025). 0.4 Genome-wide association study identifies four novel loci associated with Alzheimer's endophenotypes and disease modifiers. genome-wide association analysis NONHSAT192799.1 lncRNA Alzheimers disease 0.33 CATTTTGCAT(T > C)GCTCTTAAAT chr22: 30009162 0.2462,0.7538 0.29906504841997961,0.70093495158002038 Region score:0.42; TSS score:0.27; Unmatched score:0.46; Average GERP:1.4578772277227745 GeneName:AC003681.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000279159; TranscriptID:ENST00000624945; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HORMAD2-AS1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000227117; TranscriptID:ENST00000429350; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR6818; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000275818; TranscriptID:ENST00000621576; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MTMR3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000100330; TranscriptID:ENST00000401950; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003192 26631737 NONHSAT013865.2 rs12764441 T N/A up to 54,116 european ancestry cases HP_0012594 N/A Associate Microalbuminuria rs12764441-T of NONHSAT013865.2 is significantly associated with the microalbuminuria by using GWAS analysis in up to 54,116 european ancestry cases(p-value = 4E-6 ;OR = 0.1). 0.4 Genome-wide Association Studies Identify Genetic Loci Associated With Albuminuria in Diabetes. genome-wide association analysis NONHSAT013865.2 lncRNA Microalbuminuria 0.33 GAATCCTTAA(C > T)CCAGGACCCA chr10: 70931894 0.4499,0.5501 0.49704542558613659,0.50295457441386340 Region score:0.29; TSS score:0.35; Unmatched score:0.6; Average GERP:0.06174257425742575 GeneName:AC073176.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000271409; TranscriptID:ENST00000603033; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC073176.3; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000285300; TranscriptID:ENST00000646051; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003193 20139978 NONHSAT203752.1 rs4580814 T N/A 14,377 japanese ancestry individuals EFO_0004527 N/A Associate Mean corpuscular hemoglobin concentration rs4580814-T of NONHSAT203752.1 is significantly associated with the mean corpuscular hemoglobin concentration by using GWAS analysis in 14,377 japanese ancestry individuals(p-value = 5E-10 ;OR = 0.083). 0.4 Genome-wide association study of hematological and biochemical traits in a Japanese population. genome-wide association analysis NONHSAT203752.1 lncRNA Mean corpuscular hemoglobin 0.33 TCCGTCAATG(G > T)GGAATTGGGC chr5: 1113129 0.6438,0.3562 0.55040296890927624,0.44959703109072375 Region score:0.3; TSS score:0.58; Unmatched score:0.7; Average GERP:-0.31499772277227683 GeneName:SLC12A7; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000113504; TranscriptID:ENST00000264930; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003194 22491018 NONHSAT171196.1 rs7164176 ? N/A 1,157 european and other ancestry rheumatoid arthritis cases; 526 european and other ancestry rheumatoid arthritis cases EFO_0000685 tocilizumab Associate Response to tocilizumab in rheumatoid arthritis rs7164176-? of NONHSAT171196.1 is significantly associated with the response to tocilizumab in rheumatoid arthritis by using GWAS analysis in 1,157 european and other ancestry rheumatoid arthritis cases; 526 european and other ancestry rheumatoid arthritis cases(p-value = 5E-7 ;OR = 0.28). 0.4 Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis. genome-wide association analysis NONHSAT171196.1 lncRNA Rheumatoid arthritis 0.33 GAAAATGACT(G > A)AGTCACCCTG chr15: 91668544 0.2937,0.7063 0.34431543068297655,0.65568456931702344 Region score:0.38; TSS score:0.46; Unmatched score:0.17; Average GERP:-0.8402396039603964 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003195 29221444 NONHSAT158538.1 rs192211484 ? N/A 345 african american cases//346 african american controls; 137 african american cases//68 african american controls EFO_0004723 N/A Associate Coronary artery calcified atherosclerotic plaque (90 or 130 hu threshold) in type 2 diabetes rs192211484-? of NONHSAT158538.1 is significantly associated with the coronary artery calcified atherosclerotic plaque (90 or 130 hu threshold) in type 2 diabetes by using GWAS analysis in 345 african american cases//346 african american controls; 137 african american cases//68 african american controls(p-value = 9E-6 ;OR = 0.343). 0.4 Genome-wide association study of coronary artery calcified atherosclerotic plaque in African Americans with type 2 diabetes. genome-wide association analysis NONHSAT158538.1 lncRNA Coronary artery calcification 0.33 AATGAAGTTA(C > A)AGAACTCAGG chr10: 118452055 0.9996,0.0003994 0.99953809887869520,0.00046190112130479 Region score:0.26; TSS score:0.05; Unmatched score:0.01; Average GERP:0.03757299999999994 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000417280; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003196 23028341 NONHSAT210396.1 rs3763317 C N/A 1,999 han chinese ancestry male individuals; 1,496 han chinese ancestry male individuals EFO_0005741 N/A Associate Complement c3 and c4 levels rs3763317-C of NONHSAT210396.1 is significantly associated with the complement c3 and c4 levels by using GWAS analysis in 1,999 han chinese ancestry male individuals; 1,496 han chinese ancestry male individuals(p-value = 9E-66 ;OR = 0.12). 0.4 Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects. genome-wide association analysis NONHSAT210396.1 lncRNA Infectious disease 0.33 TGATGCCTCC(C > T)TGACTCCTTT chr6: 32409011 0.4179,0.5821 0.51354644495412844,0.48645355504587155 Region score:0.19; TSS score:0.39; Unmatched score:0.4; Average GERP:-0.6917831683168317 GeneName:BTNL2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000204290; TranscriptID:ENST00000454136; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TSBP1-AS1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000225914; TranscriptID:ENST00000642577; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003197 27863252 NONHSAT200257.1 rs7679673 A N/A 170,702 european ancestry individuals EFO_0004833 N/A Associate Neutrophil count rs7679673-A of NONHSAT200257.1 is significantly associated with the neutrophil count by using GWAS analysis in 170,702 european ancestry individuals(p-value = 2E-10 ;OR = 0.02345559). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT200257.1 lncRNA Neutrophil count 0.33 ATTTTTGACA(C > A)AACTCTATCA chr4: 105140377 0.4083,0.5917 0.48941609327217125,0.51058390672782874 Region score:0.14; TSS score:0.18; Unmatched score:0.43; Average GERP:-0.9553586138613857 GeneName:AC004069.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000251259; TranscriptID:ENST00000504082; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000171428; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003198 27126917 NONHSAT025096.2 rs141697342 G N/A 941 european ancestry individuals EFO_0008568 N/A Associate Night sleep phenotypes rs141697342-G of NONHSAT025096.2 is significantly associated with the night sleep phenotypes by using GWAS analysis in 941 european ancestry individuals(p-value = 1E-6 ;OR = 0.6406). 0.4 Genome-wide association analysis of actigraphic sleep phenotypes in the LIFE Adult Study. genome-wide association analysis NONHSAT025096.2 lncRNA Sleep disorder 0.33 N/A N/A N/A N/A N/A N/A NCRV0000003199 22688191 NONHSAT208963.1 rs886424 ? N/A 2,111 european ancestry schizophrenia cases//836 european ancestry bipolar disorder cases//2,535 european ancestry controls EFO_0000677 N/A Associate Bipolar disorder and schizophrenia rs886424-? of NONHSAT208963.1 is significantly associated with the bipolar disorder and schizophrenia by using GWAS analysis in 2,111 european ancestry schizophrenia cases//836 european ancestry bipolar disorder cases//2,535 european ancestry controls(p-value = 9E-7 ;OR = 1.37). 0.4 Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder. genome-wide association analysis NONHSAT208963.1 lncRNA Mental or behavioural disorder 0.33 CTGCTCCTCA(C > T)CTGTACCCAG chr6: 30814225 0.9595,0.04054 0.91164946483180428,0.08835053516819571 Region score:0.21; TSS score:0.3; Unmatched score:0.57; Average GERP:-0.5504029702970293 GeneName:LINC00243; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000214894; TranscriptID:ENST00000399196; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000195451; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003200 26634245 NONHSAT184659.1 rs180765220 T N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio rs180765220-T of NONHSAT184659.1 is significantly associated with the post bronchodilator fev1/fvc ratio by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 5E-6 ;OR = 0.168). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT184659.1 lncRNA Pulmonary function measurement 0.33 CAAGAGAAGA(C > T)ATGAACTTAG chr2: 55929425 0.9998,0.0001997 0.99989647043832823,0.00010352956167176 Region score:0.36; TSS score:0.3; Unmatched score:0.12; Average GERP:-0.19239108910891095 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000117405; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003201 27863252 NONHSAT180721.1 rs74929147 A N/A 172,332 european ancestry individuals EFO_0004527 N/A Associate Mean corpuscular hemoglobin rs74929147-A of NONHSAT180721.1 is significantly associated with the mean corpuscular hemoglobin by using GWAS analysis in 172,332 european ancestry individuals(p-value = 1E-10 ;OR = 0.04950154). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT180721.1 lncRNA Mean corpuscular hemoglobin 0.33 GGAAACCCAC(G > A,C)GGGCTGAGCG chr19: 18302251 0.9675,0.03255,. 0.95015449796126401,0.04983753822629969,0.00000796381243628 Region score:0.41; TSS score:0.58; Unmatched score:0.34; Average GERP:0.03447999999999998 GeneName:LSM4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000130520; TranscriptID:ENST00000593829; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003202 25614447 hsa-mir-4293 rs12220909 C N/a 576 patients with lung cancer in a southern chinese population, and the significant results were validated in two additional cohorts of 346 and 368 patients, respectively EFO_0001071 N/A No significance for risk Lung cancer rs12220909-C of hsa-mir-4293 and its dysfunction is not significantly associated with Lung Cancer by using case-control analysis in 576 patients with lung cancer in a southern Chinese population, and the significant results were validated in two additional cohorts of 346 and 368 patients, respectively. -0.4 Sequence Variation in Mature MicroRNA-499 Confers Unfavorable Prognosis of Lung Cancer Patients Treated with Platinum-Based Chemotherapy. case-control analysis hsa-mir-4293 miRNA Lung cancer -0.33 GTTCCTGTCA(G > C,T)GCTGGTGTGA chr10: 14383222 0.9619,0.03814,. 0.98156377420998980,0.01842826197757390,0.00000796381243628 Region score:0.29; TSS score:0.42; Unmatched score:0.43; Average GERP:0.6702418811881188 GeneName:FRMD4A; CADD-Score:2; Consquence:intron; GeneID:ENSG00000151474; TranscriptID:ENST00000475141; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR4293; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000266321; TranscriptID:ENST00000584305; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000396684; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003203 26257337 pri-miR-132 rs3803808 A N/a 1041 patients with scz (531 males and 510 females; mean age: 33.65?隆脌?9.14years) and 953 healthy controls (512 males and 441 females; mean age: 34.47?隆脌?10.49 years) in the chinese population EFO_0000692 N/A No significance for risk Schizophrenia rs3803808-A of pri-miR-132 and its dysfunction is not significantly associated with schizophrenia by using case-control analysis in 1041 patients with SCZ (531 males and 510 females; mean age: 33.65?隆脌?9.14years) and 953 healthy controls (512 males and 441 females; mean age: 34.47?隆脌?10.49 years) in the chinese population. -0.4 Polymorphisms in MicroRNA Genes And Genes Involving in NMDAR Signaling and Schizophrenia: A Case-Control Study in Chinese Han Population. case-control analysis hsa-mir-132 miRNA Schizophrenia -0.33 GCCCTGGCTG(G > A)GATACCTTGG chr17: 2049683 0.8482,0.1518 0.93332696228338430,0.06667303771661569 Region score:0.39; TSS score:0.4; Unmatched score:0.8; Average GERP:-1.0868613861386136 GeneName:AC090617.5; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000263050; TranscriptID:ENST00000572790; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HIC1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000177374; TranscriptID:ENST00000571990; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR132; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000267200; TranscriptID:ENST00000591554; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR212; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000267195; TranscriptID:ENST00000586026; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000090180; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003204 23535732 NONHSAT080918.2 rs6062509 A N/A 11,085 european ancestry cases//11,463 european ancestry controls; 19,662 european ancestry cases//19,715 european ancestry controls EFO_0001663 N/A Associate Prostate cancer rs6062509-A of NONHSAT080918.2 is significantly associated with the prostate cancer by using GWAS analysis in 11,085 european ancestry cases//11,463 european ancestry controls; 19,662 european ancestry cases//19,715 european ancestry controls(p-value = 4E-16 ;OR = 1.12). 0.4 Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. genome-wide association analysis NONHSAT080918.2 lncRNA Prostate cancer 0.33 CAGCAGAGGC(G > T)ATGGGACACA chr20: 63731211 0.2897,0.7103 0.26343495158002038,0.73656504841997961 Region score:0.29; TSS score:0.23; Unmatched score:0.53; Average GERP:-0.3313504158415842 GeneName:AL121845.3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000273154; TranscriptID:ENST00000632538; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AL121845.4; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000274501; TranscriptID:ENST00000613401; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000657803; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ZGPAT; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197114; TranscriptID:ENST00000328969; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003205 28892062 NONHSAT053287.2 rs11658063 C N/A up to 72,390 japanese ancestry women//up to 85,894 japanese ancestry men; up to 10,048 japanese ancestry women//up to 5,098 japanese ancestry men//up to 181,999 european ancestry women//up to 140,155 european ancestry controls EFO_0001073 N/A Associate Body mass index rs11658063-C of NONHSAT053287.2 is significantly associated with the body mass index by using GWAS analysis in up to 72,390 japanese ancestry women//up to 85,894 japanese ancestry men; up to 10,048 japanese ancestry women//up to 5,098 japanese ancestry men//up to 181,999 european ancestry women//up to 140,155 european ancestry controls(p-value = 6E-9 ;OR = 0.024). 0.4 Genome-wide association study identifies 112 new loci for body mass index in the Japanese population. genome-wide association analysis NONHSAT053287.2 lncRNA Obesity 0.33 CACCGCGCTT(G > C,T)GTTTCTTTGG chr17: 37743881 0.3245,0.6755,. 0.62134461009174311,0.37863946228338430,0.00001592762487257 Region score:0.26; TSS score:0.61; Unmatched score:0.82; Average GERP:-1.122929702970298 GeneName:HNF1B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000275410; TranscriptID:ENST00000617811; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000093699; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003206 22778062 SNORA44 rs16837624 C N/a N/a function N/A Not significant changes in the structure Function rs16837624-C of SNORA44 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORA44 snoRNA Function -0.049 CAGTTGGAGA(T > G)CCCATGGCTA chr1: 28580472 0.9467,0.05331 0.94592571355759429,0.05407428644240570 Region score:0.38; TSS score:0.25; Unmatched score:0.72; Average GERP:3.0179534653465367 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000003885; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNHG12; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000197989; TranscriptID:ENST00000648327; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORA16A; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000274582; TranscriptID:ENST00000384342; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORA16A; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000280498; TranscriptID:ENST00000628458; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORA44; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000273544; TranscriptID:ENST00000384584; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORA61; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000278274; TranscriptID:ENST00000384581; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORD99; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000221539; TranscriptID:ENST00000408612; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TRNAU1AP; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180098; TranscriptID:ENST00000373830; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003207 27064256 NONHSAT134879.2 rs3739821 G N/A 5,612 east asian ancestry cases//12,451 east asian ancestry controls//337 indian ancestry cases//2,538 indian ancestry controls//576 european ancestry cases//4,940 european ancestry controls; 430 european ancestry cases//3,133 european ancestry controls//90 nepalese ancestry cases//205 nepalese ancestry controls//2,340 east asian ancestry cases//3,865 east asian ancestry controls//628 south asian ancestry cases//552 south asian ancestry controls//99 latin american cases//224 latin american controls//391 saudi arabian ancestry cases//1,659 saudi arabian ancestry controls EFO_1001506 N/A Associate Glaucoma (primary angle closure) rs3739821-G of NONHSAT134879.2 is significantly associated with the glaucoma (primary angle closure) by using GWAS analysis in 5,612 east asian ancestry cases//12,451 east asian ancestry controls//337 indian ancestry cases//2,538 indian ancestry controls//576 european ancestry cases//4,940 european ancestry controls; 430 european ancestry cases//3,133 european ancestry controls//90 nepalese ancestry cases//205 nepalese ancestry controls//2,340 east asian ancestry cases//3,865 east asian ancestry controls//628 south asian ancestry cases//552 south asian ancestry controls//99 latin american cases//224 latin american controls//391 saudi arabian ancestry cases//1,659 saudi arabian ancestry controls(p-value = 5E-11 ;OR = 1.15). 0.4 Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma. genome-wide association analysis NONHSAT134879.2 lncRNA Primary angle closure glaucoma 0.33 CACACCTCCT(A > G)CAGGTCAGGC chr9: 127940198 0.5363,0.4637 0.41592603211009174,0.58407396788990825 Region score:0.33; TSS score:0.28; Unmatched score:0.52; Average GERP:-0.756842574257426 GeneName:AL157935.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000227218; TranscriptID:ENST00000415141; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:DPM2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000136908; TranscriptID:ENST00000314392; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:FAM102A; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000167106; TranscriptID:ENST00000373095; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000894964; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003208 28078323 NONHSAT203460.1 rs12654437 ? N/A 3,964 african american ancestry individuals. HP_0100543 N/A Associate Cognitive decline (age-related) rs12654437-? of NONHSAT203460.1 is significantly associated with the cognitive decline (age-related) by using GWAS analysis in 3,964 african american ancestry individuals.(p-value = 4E-6 ;OR = 0.004). 0.4 Genetic architecture of age-related cognitive decline in African Americans. genome-wide association analysis NONHSAT203460.1 lncRNA Cognitive impairment 0.33 TTAAAAATAA(T > G)CATATTAATC chr5: 155461007 0.5875,0.4125 0.65437054026503567,0.34562945973496432 Region score:0.4; TSS score:0.29; Unmatched score:0.1; Average GERP:-0.8308669999999997 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003209 26198764 NONHSAT187912.1 rs59979824 C N/A 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls EFO_0000692 N/A Associate Schizophrenia rs59979824-C of NONHSAT187912.1 is significantly associated with the schizophrenia by using GWAS analysis in 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls(p-value = 2E-8 ;OR = 1.0638298). 0.4 Genome-wide association study of schizophrenia in Ashkenazi Jews. genome-wide association analysis NONHSAT187912.1 lncRNA Schizophrenia 0.52 TCCCCACAAT(C > A)TTGAATCATT chr2: 192983614 0.7326,0.2674 0.72769336136595310,0.27230663863404689 Region score:0.34; TSS score:0.14; Unmatched score:0.06; Average GERP:0.49718891089108946 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003209 25056061 NONHSAT187912.1 rs59979824 C N/A 32,405 european ancestry cases//42,221 european ancestry controls//1,235 european ancestry cases and 1,235 european ancestry controls from 1235 parent-offspring trios//1,836 east asian ancestry cases//3,383 east asian ancestry controls; 1,513 european ancestry cases//66,236 european ancestry controls EFO_0000692 N/A Associate Schizophrenia rs59979824-C of NONHSAT187912.1 is significantly associated with the schizophrenia by using GWAS analysis in 32,405 european ancestry cases//42,221 european ancestry controls//1,235 european ancestry cases and 1,235 european ancestry controls from 1235 parent-offspring trios//1,836 east asian ancestry cases//3,383 east asian ancestry controls; 1,513 european ancestry cases//66,236 european ancestry controls(p-value = 8E-9 ;OR = 1.0672358). 0.4 Biological insights from 108 schizophrenia-associated genetic loci. genome-wide association analysis NONHSAT187912.1 lncRNA Schizophrenia 0.52 TCCCCACAAT(C > A)TTGAATCATT chr2: 192983614 0.7326,0.2674 0.72769336136595310,0.27230663863404689 Region score:0.34; TSS score:0.14; Unmatched score:0.06; Average GERP:0.49718891089108946 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003209 28540026 NONHSAT187912.1 rs59979824 ? N/A schizophrenia cases and controls (see ripke//2014)cases//up to 1,190 controls EFO_0000692 N/A Associate Schizophrenia rs59979824-? of NONHSAT187912.1 is significantly associated with the schizophrenia by using GWAS analysis in schizophrenia cases and controls (see ripke//2014)cases//up to 1,190 controls(p-value = 6E-9 ;OR = 1.0638298). 0.4 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. genome-wide association analysis NONHSAT187912.1 lncRNA Schizophrenia 0.52 TCCCCACAAT(C > A)TTGAATCATT chr2: 192983614 0.7326,0.2674 0.72769336136595310,0.27230663863404689 Region score:0.34; TSS score:0.14; Unmatched score:0.06; Average GERP:0.49718891089108946 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003210 28498854 NONHSAT215731.1 rs10096908 ? N/A up to 31,155 african individuals; up to 4,187 african individuals//up to 14,016 korean ancestry individuals//up to 23,914 european ancestry individuals//up to 12,278 hispanic individuals EFO_0005763 N/A Associate Blood pressure traits (multi-trait analysis) rs10096908-? of NONHSAT215731.1 is significantly associated with the blood pressure traits (multi-trait analysis) by using GWAS analysis in up to 31,155 african individuals; up to 4,187 african individuals//up to 14,016 korean ancestry individuals//up to 23,914 european ancestry individuals//up to 12,278 hispanic individuals(p-value = 2E-6 ;OR = ?). 0.4 Single-trait and multi-trait genome-wide association analyses identify novel loci for blood pressure in African-ancestry populations. genome-wide association analysis NONHSAT215731.1 lncRNA Pulse pressure measurement 0.33 GACTTGGTGG(C > T)ATCGCAAGAC chr8: 41784039 0.9032,0.09685 0.90143189347604485,0.09856810652395514 Region score:0.19; TSS score:0.2; Unmatched score:0.14; Average GERP:-0.11250396039603963 GeneName:ANK1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000029534; TranscriptID:ENST00000265709; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003211 30872409 miR-146a rs2910164 ? N/A Three hundred samples EFO_0001061 N/A no significance for risk cervical carcinoma rs2910164-? of hsa-mir-146a and its dysfunction is not significantly associated with Cervical carcinoma by using two-stage association study in Three hundred samples -0.4 Impacts of single nucleotide polymorphisms in three microRNAs (miR-146a, miR-196a2 and miR-499) on the susceptibility to cervical cancer among Indian women. two-stage association study hsa-mir-146a miRNA Cervical carcinoma 0 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 0 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003211 22952151 miR-146a rs2910164 G N/A 2 studies involving 20660 subjects EFO_0001061 N/A increasing risk Cervical cancer rs2910164-G of hsa-mir-146a and its dysfunction is significantly associated with the increasing risk of Cervical carcinoma by using meta-analysis in 2 studies involving 20660 subjects 0.4 The association of miR-146a rs2910164 and miR-196a2 rs11614913 polymorphisms with cancer risk: a meta-analysis of 32 studies. meta-analysis hsa-mir-146a miRNA Cervical carcinoma 0 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 0 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003212 20935629 NONHSAT150556.1 rs4846567 G N/A up to 77,167 european ancestry individuals; up to 113,636 european ancestry individuals EFO_0004343 N/A Associate Waist-hip ratio rs4846567-G of NONHSAT150556.1 is significantly associated with the waist-hip ratio by using GWAS analysis in up to 77,167 european ancestry individuals; up to 113,636 european ancestry individuals(p-value = 7E-21 ;OR = 0.03). 0.4 Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution. genome-wide association analysis NONHSAT150556.1 lncRNA Waist-hip ratio 0.33 AGGCTTTTTT(G > T)TGTGTGGGCA chr1: 219577375 0.7774,0.2226 0.77213143476044852,0.22786856523955147 Region score:0.44; TSS score:0.3; Unmatched score:0.16; Average GERP:2.3486247524752493 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000387133; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003213 22808956 NONHSAT178159.1 rs1623523 ? N/A 914 european ancestry cases//5,259 european ancestry controls; 1,454 european ancestry cases//1,666 european ancestry controls EFO_0004826 N/A Associate Antineutrophil cytoplasmic antibody-associated vasculitis rs1623523-? of NONHSAT178159.1 is significantly associated with the antineutrophil cytoplasmic antibody-associated vasculitis by using GWAS analysis in 914 european ancestry cases//5,259 european ancestry controls; 1,454 european ancestry cases//1,666 european ancestry controls(p-value = 3E-6 ;OR = ?). 0.4 Genetically distinct subsets within ANCA-associated vasculitis. genome-wide association analysis NONHSAT178159.1 lncRNA Anti-neutrophil antibody associated vasculitis 0.33 TGTACTTGAA(T > C)GAATCTTTAG chr18: 3328748 0.8083,0.1917 0.79053580530071355,0.20946419469928644 Region score:0.32; TSS score:0.38; Unmatched score:0.16; Average GERP:1.6434554455445551 GeneName:AP001025.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000266578; TranscriptID:ENST00000578787; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003214 18356149 miR-362 rs370341989 T Dominant >100 human tumor tissues and 20 cancer cell lines EFO_0004289 N/A Increasing risk Lymphoblastic leukemia rs370341989-T of miR-362 and its dysfunction is significantly associated with the increasing risk of Lymphoblastic leukemia by using case-control analysis in >100 human tumor tissues and 20 cancer cell lines. 0.4 Genetic variations of microRNAs in human cancer and their effects on the expression of miRNAs. case-control analysis hsa-mir-362 miRNA Lymphoid leukemia 0.33 GTTTGCTATG(C > T)GGTGCCAGAT chrX: 50009102 0.9997,0.0002649 0.99915583588175331,0.00084416411824668 N/A GeneName:CLCN5; CADD-Score:2; Consquence:intron; GeneID:ENSG00000171365; TranscriptID:ENST00000376088; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR362; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000208015; TranscriptID:ENST00000385280; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR500A; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207785; TranscriptID:ENST00000385051; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR500B; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000239057; TranscriptID:ENST00000458843; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR501; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000211538; TranscriptID:ENST00000390204; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR660; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207970; TranscriptID:ENST00000385235; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003215 24529757 NONHSAT015365.2 rs10458771 ? N/A 250 han chinese ancestry cases//250 han chinese ancestry controls EFO_0001357 N/A Associate Amyotrophic lateral sclerosis (sporadic) rs10458771-? of NONHSAT015365.2 is significantly associated with the amyotrophic lateral sclerosis (sporadic) by using GWAS analysis in 250 han chinese ancestry cases//250 han chinese ancestry controls(p-value = 3E-6 ;OR = ?). 0.4 Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations. genome-wide association analysis NONHSAT015365.2 lncRNA Sporadic amyotrophic lateral sclerosis 0.33 AAATCCGAGG(A > G)CTAGTCACCA chr10: 86402481 0.1248,0.8752 0.13412652905198776,0.86587347094801223 Region score:0.35; TSS score:0.61; Unmatched score:0.44; Average GERP:0.025263366336633536 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003216 24047446 NONHSAT107764.2 rs3950186 T N/A 1,080 european ancestry cases//1,588 european ancestry controls EFO_0006788 N/A Associate Anxiety and major depressive disorder rs3950186-T of NONHSAT107764.2 is significantly associated with the anxiety and major depressive disorder by using GWAS analysis in 1,080 european ancestry cases//1,588 european ancestry controls(p-value = 8E-6 ;OR = 1.319). 0.4 Genome-wide association study of co-occurring anxiety in major depression. genome-wide association analysis NONHSAT107764.2 lncRNA Anxiety disorder 0.33 ATTCGTTCTT(C > T)TCTTCTTATA chr6: 11811081 0.4099,0.5901 0.49144686544342507,0.50855313455657492 Region score:0.33; TSS score:0.51; Unmatched score:0.77; Average GERP:0.7637089108910892 GeneName:ADTRP; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000111863; TranscriptID:ENST00000379415; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AL022724.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000234427; TranscriptID:ENST00000412132; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000783164; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003217 26634245 NONHSAT215353.1 rs143335239 A N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio rs143335239-A of NONHSAT215353.1 is significantly associated with the post bronchodilator fev1/fvc ratio by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 3E-6 ;OR = 0.271). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT215353.1 lncRNA Pulmonary function measurement 0.33 TTTTTGAGAC(G > A)GAGTCCTGCC chr8: 6643288 0.9998,0.0001997 0.99967348369011213,0.00032651630988786 Region score:0.24; TSS score:0.44; Unmatched score:0.61; Average GERP:-0.1435841584158416 GeneName:MCPH1-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000249898; TranscriptID:ENST00000515608; AnnoType:INTRONIC; mirSVR-Score:-0.2364; mirSVR-E:-18.22 | GeneName:MCPH1; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000147316; TranscriptID:ENST00000344683; AnnoType:3PRIME_UTR; mirSVR-Score:-0.2364; mirSVR-E:-18.22 | NCRV0000003218 27863252 NONHSAT219162.1 rs3780378 T N/A 170,672 european ancestry individuals EFO_0007994 N/A Associate Neutrophil percentage of granulocytes rs3780378-T of NONHSAT219162.1 is significantly associated with the neutrophil percentage of granulocytes by using GWAS analysis in 170,672 european ancestry individuals(p-value = 2E-10 ;OR = 0.0227039). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT219162.1 lncRNA Neutrophil percentage of granulocytes 0.33 GCCTCATGCA(C > T)ATCCATGTTG chr9: 5112288 0.4828,0.5172 0.50004778287461773,0.49995221712538226 Region score:0.35; TSS score:0.13; Unmatched score:0.37; Average GERP:-0.26690594059405937 GeneName:IGHEP2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000254017; TranscriptID:ENST00000519308; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:JAK2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000096968; TranscriptID:ENST00000381652; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MTND4P14; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000236254; TranscriptID:ENST00000435799; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MTND5P14; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000230225; TranscriptID:ENST00000441481; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TCF3P1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000236567; TranscriptID:ENST00000423021; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003219 27989323 NONHSAT057193.2 rs12456390 C N/A 7,118 finnish ancestry individuals EFO_0004762 N/A Associate Vascular endothelial growth factor levels rs12456390-C of NONHSAT057193.2 is significantly associated with the vascular endothelial growth factor levels by using GWAS analysis in 7,118 finnish ancestry individuals(p-value = 5E-6 ;OR = 0.0815). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. genome-wide association analysis NONHSAT057193.2 lncRNA Vascular endothelial growth factor measurement 0.33 AATATCTATA(T > C)ACCTCTACAC chr18: 8998032 0.7857,0.2143 0.76443839194699286,0.23556160805300713 Region score:0.32; TSS score:0.24; Unmatched score:0.07; Average GERP:-0.42616336633663343 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000568962; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003220 27863252 NONHSAT220313.1 rs605642 A N/A 170,672 european ancestry individuals EFO_0007994 N/A Associate Neutrophil percentage of granulocytes rs605642-A of NONHSAT220313.1 is significantly associated with the neutrophil percentage of granulocytes by using GWAS analysis in 170,672 european ancestry individuals(p-value = 1E-12 ;OR = 0.02606256). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT220313.1 lncRNA Neutrophil percentage of granulocytes 0.33 GAAATGATGG(C > A)TTTGAAGCTG chr9: 133005082 0.5745,0.4255 0.49752325433231396,0.50247674566768603 Region score:0.28; TSS score:0.52; Unmatched score:0.34; Average GERP:-0.9401170297029703 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003221 27701053 MiRNA-196a2 rs11614913 T N/a 180 aids-nhl cases and 529 hiv-infected matched controls EFO_1000077 N/A Decreasing risk Central nervous system (cns) aids-nhl rs11614913-T of MiRNA-196a2 and its dysfunction is significantly associated with the decreasing risk of central nervous system (CNS) AIDS-NHL by using case-control analysis in 180 AIDS-NHL cases and 529 HIV-infected matched controls. 0.4 MicroRNA-related polymorphisms and non-Hodgkin lymphoma susceptibility in the Multicenter AIDS Cohort Study. case-control analysis hsa-mir-196a-2 miRNA Aids-related primary central nervous system lymphoma 0.33 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003222 23028342 NONHSAT128492.2 rs4871297 A N/A up to 2,916 european ancestry type 1 diabetes cases with nephropathy//3,315 european ancestry type 1 diabetes cases without nephropathy; up to 1,493 european ancestry type 1 diabetes cases with nephropathy//3,191 european ancestry type 1 diabetes cases without nephropathy EFO_0004996 N/A Associate Type 1 diabetes nephropathy rs4871297-A of NONHSAT128492.2 is significantly associated with the type 1 diabetes nephropathy by using GWAS analysis in up to 2,916 european ancestry type 1 diabetes cases with nephropathy//3,315 european ancestry type 1 diabetes cases without nephropathy; up to 1,493 european ancestry type 1 diabetes cases with nephropathy//3,191 european ancestry type 1 diabetes cases without nephropathy(p-value = 2E-6 ;OR = 1.23). 0.4 New susceptibility loci associated with kidney disease in type 1 diabetes. genome-wide association analysis NONHSAT128492.2 lncRNA Type 1 diabetes nephropathy 0.33 TCTTCTCCAC(G > A)ATGGAATCAA chr8: 122693916 0.4411,0.5589 0.45613532110091743,0.54386467889908256 Region score:0.42; TSS score:0.55; Unmatched score:0.83; Average GERP:1.1466346534653467 GeneName:LINC01151; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253819; TranscriptID:ENST00000521608; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000868100; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003223 20351715 NONHSAT170667.1 rs12912251 ? N/A 4,387 european ancestry bipolar cases//1,695 european ancestry major depressive disorder cases//7,970 european ancestry controls EFO_0000677 N/A Associate Bipolar disorder or major depressive disorder (combined) rs12912251-? of NONHSAT170667.1 is significantly associated with the bipolar disorder or major depressive disorder (combined) by using GWAS analysis in 4,387 european ancestry bipolar cases//1,695 european ancestry major depressive disorder cases//7,970 european ancestry controls(p-value = 1E-6 ;OR = ?). 0.4 Meta-analysis of genome-wide association data of bipolar disorder and major depressive disorder. genome-wide association analysis NONHSAT170667.1 lncRNA Mental or behavioural disorder 0.33 ACAGAAGACA(G > T)TAGACAATAA chr15: 38694167 0.8163,0.1837 0.75262805810397553,0.24737194189602446 Region score:0.24; TSS score:0.3; Unmatched score:0.25; Average GERP:-0.23517425742574247 GeneName:C15orf53; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000175779; TranscriptID:ENST00000318792; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003224 27770636 NONHSAT100136.2 rs921390 T N/A 1,825 african american ancestry cases//3,784 african american ancestry controls; EFO_1001870 N/A Associate Late-onset alzheimer's disease rs921390-T of NONHSAT100136.2 is significantly associated with the late-onset alzheimer's disease by using GWAS analysis in 1,825 african american ancestry cases//3,784 african american ancestry controls; (p-value = 1E-6 ;OR = 0.58). 0.4 Two novel loci, COBL and SLC10A2, for Alzheimer's disease in African Americans. genome-wide association analysis NONHSAT100136.2 lncRNA Late-onset alzheimers disease 0.33 GGAGGTCGGT(C > T)GCTGATGTTG chr5: 4515659 0.9954,0.004593 0.99577917940876656,0.00422082059123343 Region score:0.26; TSS score:0.3; Unmatched score:0.48; Average GERP:-2.1174376237623758 GeneName:AC106799.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000231291; TranscriptID:ENST00000503188; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC106799.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000248973; TranscriptID:ENST00000507435; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003225 27399966 NONHSAT184970.1 rs6705628 ? N/A 1,659 chinese ancestry cases//3,398 chinese ancestry controls//4,036 european ancestry cases//6,959 european ancestry controls; 3,043 chinese ancestry cases//5,074 chinese ancestry controls//2,643 european ancestry cases//9,032 european ancestry controls EFO_0002690 N/A Associate Systemic lupus erythematosus rs6705628-? of NONHSAT184970.1 is significantly associated with the systemic lupus erythematosus by using GWAS analysis in 1,659 chinese ancestry cases//3,398 chinese ancestry controls//4,036 european ancestry cases//6,959 european ancestry controls; 3,043 chinese ancestry cases//5,074 chinese ancestry controls//2,643 european ancestry cases//9,032 european ancestry controls(p-value = 3E-8 ;OR = 1.4). 0.4 Genome-wide association meta-analysis in Chinese and European individuals identifies ten new loci associated with systemic lupus erythematosus. genome-wide association analysis NONHSAT184970.1 lncRNA Systemic lupus erythematosus 0.451 CCTTTCCTCC(C > T)CCGTGCGGAA chr2: 73981235 0.8504,0.1496 0.88336996687054026,0.11663003312945973 Region score:0.45; TSS score:0.39; Unmatched score:0.95; Average GERP:-1.225464356435643 GeneName:AC073046.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000235499; TranscriptID:ENST00000441217; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:DGUOK-AS1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000237883; TranscriptID:ENST00000453103; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000119105; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000610144; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003225 23273568 NONHSAT184970.1 rs6705628 C N/A 1,656 han chinese ancestry cases//3,394 han chinese ancestry controls; 3,256 han chinese ancestry cases//5,667 han chinese ancestry controls//453 thai ancestry cases//963 thai ancestry controls EFO_0002690 N/A Associate Systemic lupus erythematosus rs6705628-C of NONHSAT184970.1 is significantly associated with the systemic lupus erythematosus by using GWAS analysis in 1,656 han chinese ancestry cases//3,394 han chinese ancestry controls; 3,256 han chinese ancestry cases//5,667 han chinese ancestry controls//453 thai ancestry cases//963 thai ancestry controls(p-value = 7E-17 ;OR = 1.3333). 0.4 Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians. genome-wide association analysis NONHSAT184970.1 lncRNA Systemic lupus erythematosus 0.451 CCTTTCCTCC(C > T)CCGTGCGGAA chr2: 73981235 0.8504,0.1496 0.88336996687054026,0.11663003312945973 Region score:0.45; TSS score:0.39; Unmatched score:0.95; Average GERP:-1.225464356435643 GeneName:AC073046.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000235499; TranscriptID:ENST00000441217; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:DGUOK-AS1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000237883; TranscriptID:ENST00000453103; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000119105; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000610144; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003226 27863252 NONHSAT044111.2 rs261332 G N/A 172,925 european ancestry individuals EFO_0004509 N/A Associate Hemoglobin concentration rs261332-G of NONHSAT044111.2 is significantly associated with the hemoglobin concentration by using GWAS analysis in 172,925 european ancestry individuals(p-value = 7E-9 ;OR = 0.02541862). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT044111.2 lncRNA Hemoglobin measurement 0.33 ACCCTTGCAT(A > G)TTAACACATA chr15: 58435126 0.1823,0.8177 0.20225694444444444,0.79774305555555555 Region score:0.28; TSS score:0.15; Unmatched score:0.34; Average GERP:-0.512501386138614 GeneName:ALDH1A2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000128918; TranscriptID:ENST00000558239; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LIPC-AS1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000259293; TranscriptID:ENST00000561083; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LIPC; CADD-Score:2; Consquence:intron; GeneID:ENSG00000166035; TranscriptID:ENST00000299022; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003227 26634245 NONHSAT047598.2 rs3971859 T N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs3971859-T of NONHSAT047598.2 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 3E-7 ;OR = 0.082). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT047598.2 lncRNA Pulmonary function measurement 0.33 GAGGGCCCGG(C > T)AGCAGGAGAG chr15: 78733935 0.7065,0.2935 0.66150611620795107,0.33849388379204892 Region score:0.28; TSS score:0.36; Unmatched score:0.46; Average GERP:0.13445940594059408 GeneName:AC022748.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000261303; TranscriptID:ENST00000564933; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003228 28604730 NONHSAT151500.1 rs3754287 T N/A 7,426 european ancestry cases//55,627 european ancestry controls EFO_0000708 N/A Associate Squamous cell lung carcinoma rs3754287-T of NONHSAT151500.1 is significantly associated with the squamous cell lung carcinoma by using GWAS analysis in 7,426 european ancestry cases//55,627 european ancestry controls(p-value = 2E-6 ;OR = 1.1387107). 0.4 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. genome-wide association analysis NONHSAT151500.1 lncRNA Squamous cell lung cancer 0.33 GGATCCCTCC(C > T)GGGTGTGAAA chr1: 41486926 0.8371,0.1629 0.83979994903160040,0.16020005096839959 Region score:0.35; TSS score:0.64; Unmatched score:0.72; Average GERP:1.7929138613861393 GeneName:EDN2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000127129; TranscriptID:ENST00000372587; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000355120; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003229 28120872 NONHSAT173368.1 rs1364121 A N/A 66 han chinese ancestry non-responder cases//160 han chinese ancestry responder cases; 79 han chinese ancestry non-responder cases//291 han chinese ancestry responder cases EFO_0001061 platinum-based neoadjuvant chemotherapy Associate Response to platinum-based neoadjuvant chemotherapy in cervical cancer rs1364121-A of NONHSAT173368.1 is significantly associated with the response to platinum-based neoadjuvant chemotherapy in cervical cancer by using GWAS analysis in 66 han chinese ancestry non-responder cases//160 han chinese ancestry responder cases; 79 han chinese ancestry non-responder cases//291 han chinese ancestry responder cases(p-value = 3E-6 ;OR = 1.98). 0.4 Genome-wide association study identifies four SNPs associated with response to platinum-based neoadjuvant chemotherapy for cervical cancer. genome-wide association analysis NONHSAT173368.1 lncRNA Cervical cancer 0.33 TCAGAGGTAC(C > G,T)TGAGTTCAGA chr16: 83706502 0.4367,.,0.5633 0.36759365443425076,0.00003981906218144,0.63236652650356778 Region score:0.2; TSS score:0.21; Unmatched score:0.06; Average GERP:0.10712673267326726 GeneName:AC009063.3; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000261103; TranscriptID:ENST00000565904; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CDH13; CADD-Score:2; Consquence:intron; GeneID:ENSG00000140945; TranscriptID:ENST00000268613; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000544095; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003230 25241909 NONHSAT198812.1 rs2869966 T N/A 3,777 european ancestry cases//3,520 european ancestry smoker controls EFO_0000341 N/A Associate Chronic obstructive pulmonary disease rs2869966-T of NONHSAT198812.1 is significantly associated with the chronic obstructive pulmonary disease by using GWAS analysis in 3,777 european ancestry cases//3,520 european ancestry smoker controls(p-value = 7E-10 ;OR = 1.29). 0.4 Genetic susceptibility for chronic bronchitis in chronic obstructive pulmonary disease. genome-wide association analysis NONHSAT198812.1 lncRNA Chronic obstructive pulmonary disease 0.33 TACAGACATA(C > T)ATTATACATA chr4: 88947927 0.52,0.48 0.52906791539245667,0.47093208460754332 Region score:0.36; TSS score:0.2; Unmatched score:0.04; Average GERP:-0.22514851485148518 GeneName:FAM13A; CADD-Score:2; Consquence:intron; GeneID:ENSG00000138640; TranscriptID:ENST00000264344; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003231 19165918 NONHSAT201694.1 rs2313132 ? N/A 431 european ancestry cases//2,155 european ancestry controls; 447 european ancestry trios//293 trios EFO_0002690 N/A Associate Systemic lupus erythematosus rs2313132-? of NONHSAT201694.1 is significantly associated with the systemic lupus erythematosus by using GWAS analysis in 431 european ancestry cases//2,155 european ancestry controls; 447 european ancestry trios//293 trios(p-value = 8E-6 ;OR = ?). 0.4 Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus. genome-wide association analysis NONHSAT201694.1 lncRNA Systemic lupus erythematosus 0.33 TCTTGAGAGT(G > A,T)TATCGATCCC chr4: 137771096 0.06589,0.9341,. 0.07316354485219164,0.91645960754332313,0.01037684760448521 Region score:0.39; TSS score:0.15; Unmatched score:0.05; Average GERP:-0.12169683168316833 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003232 19079260 NONHSAT018519.2 rs6265 G N/A 72,598 european ancestry individuals//1,160 african american individuals; up to 11,036 european ancestry individuals//32,615 individuals EFO_0001073 N/A Associate Body mass index rs6265-G of NONHSAT018519.2 is significantly associated with the body mass index by using GWAS analysis in 72,598 european ancestry individuals//1,160 african american individuals; up to 11,036 european ancestry individuals//32,615 individuals(p-value = 5E-10 ;OR = 4.58). 0.4 Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity. genome-wide association analysis NONHSAT018519.2 lncRNA Obesity 0.451 TCTTCTATCA(C > T)GTGTTCGAAA chr11: 27658369 0.7987,0.2013 0.83567469418960244,0.16432530581039755 Region score:0.5; TSS score:0.56; Unmatched score:0.75; Average GERP:3.0963910891089115 GeneName:BDNF-AS; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000245573; TranscriptID:ENST00000499008; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.6233; mirSVR-E:-17.45 | GeneName:BDNF; CADD-Score:7; Consquence:missense; GeneID:ENSG00000176697; TranscriptID:ENST00000438929; AnnoType:NON_SYNONYMOUS; mirSVR-Score:-0.6233; mirSVR-E:-17.45 | NCRV0000003232 28892062 NONHSAT018519.2 rs6265 T N/A up to 72,390 japanese ancestry women//up to 85,894 japanese ancestry men; up to 10,048 japanese ancestry women//up to 5,098 japanese ancestry men//up to 181,999 european ancestry women//up to 140,155 european ancestry controls EFO_0001073 N/A Associate Body mass index rs6265-T of NONHSAT018519.2 is significantly associated with the body mass index by using GWAS analysis in up to 72,390 japanese ancestry women//up to 85,894 japanese ancestry men; up to 10,048 japanese ancestry women//up to 5,098 japanese ancestry men//up to 181,999 european ancestry women//up to 140,155 european ancestry controls(p-value = 2E-51 ;OR = 0.04). 0.4 Genome-wide association study identifies 112 new loci for body mass index in the Japanese population. genome-wide association analysis NONHSAT018519.2 lncRNA Obesity 0.451 TCTTCTATCA(C > T)GTGTTCGAAA chr11: 27658369 0.7987,0.2013 0.83567469418960244,0.16432530581039755 Region score:0.5; TSS score:0.56; Unmatched score:0.75; Average GERP:3.0963910891089115 GeneName:BDNF-AS; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000245573; TranscriptID:ENST00000499008; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.6233; mirSVR-E:-17.45 | GeneName:BDNF; CADD-Score:7; Consquence:missense; GeneID:ENSG00000176697; TranscriptID:ENST00000438929; AnnoType:NON_SYNONYMOUS; mirSVR-Score:-0.6233; mirSVR-E:-17.45 | NCRV0000003233 27863252 NONHSAT180720.1 rs11086102 C N/A 170,721 european ancestry individuals EFO_0005091 N/A Associate Monocyte count rs11086102-C of NONHSAT180720.1 is significantly associated with the monocyte count by using GWAS analysis in 170,721 european ancestry individuals(p-value = 3E-20 ;OR = 0.03434421). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT180720.1 lncRNA Monocyte count 0.33 CAAAAATCAC(G > C)TTGATAAATC chr19: 18287818 0.3091,0.6909 0.35284467380224260,0.64715532619775739 Region score:0.42; TSS score:0.41; Unmatched score:0.45; Average GERP:0.3769940594059408 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000586481; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000586483; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RPL39P38; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000241464; TranscriptID:ENST00000467018; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003234 28441456 NONHSAT208001.1 rs55671240 A N/A 2,187 european ancestry individuals EFO_0007955 N/A Associate Facial morphology (factor 12//vertical position of sublabial sulcus relative to central midface) rs55671240-A of NONHSAT208001.1 is significantly associated with the facial morphology (factor 12//vertical position of sublabial sulcus relative to central midface) by using GWAS analysis in 2,187 european ancestry individuals(p-value = 2E-6 ;OR = 0.1462). 0.4 Genome-wide association study of facial morphology reveals novel associations with FREM1 and PARK2. genome-wide association analysis NONHSAT208001.1 lncRNA Mouth morphology measurement 0.33 TTGTTTTCTG(AT > A)TTTTTTTTTT chr6: 126128915 N/A 1 N/A GeneName:TRMT11; CADD-Score:2; Consquence:intron,NMD; GeneID:ENSG00000066651; TranscriptID:ENST00000648977; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003235 28232668 NONHSAT188042.1 rs6734545 A N/A 2,033 han chinese ancestry cases//4,051 han chinese ancestry controls; 1,346 han chinese ancestry cases//4,542 han chinese ancestry controls EFO_0003959 N/A Associate Nonsyndromic cleft lip with cleft palate rs6734545-A of NONHSAT188042.1 is significantly associated with the nonsyndromic cleft lip with cleft palate by using GWAS analysis in 2,033 han chinese ancestry cases//4,051 han chinese ancestry controls; 1,346 han chinese ancestry cases//4,542 han chinese ancestry controls(p-value = 8E-7 ;OR = 1.2). 0.4 Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity. genome-wide association analysis NONHSAT188042.1 lncRNA Cleft lip 0.33 ACATCACATT(C > A)CTCATCAACT chr2: 219789274 0.9347,0.0653 0.97733498980632008,0.02266501019367991 Region score:0.32; TSS score:0.22; Unmatched score:0.05; Average GERP:-0.3799425742574259 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003236 23300278 NONHSAT144766.2 rs623323 T N/A 842 punjabi sikh ancestry cases//774 punjabi sikh ancestry controls; up to 2,512 punjabi sikh ancestry cases and 3,201 punjabi sikh ancestry controls//up to 16,128 south asian ancestry cases and 23,846 south asian ancestry controls//up to 16,746 east asian ancestry cases and 16,961 east asian ancestry controls//up to 8,130 european ancestry cases and 38,987 european ancestry controls EFO_0001360 N/A Associate Type 2 diabetes rs623323-T of NONHSAT144766.2 is significantly associated with the type 2 diabetes by using GWAS analysis in 842 punjabi sikh ancestry cases//774 punjabi sikh ancestry controls; up to 2,512 punjabi sikh ancestry cases and 3,201 punjabi sikh ancestry controls//up to 16,128 south asian ancestry cases and 23,846 south asian ancestry controls//up to 16,746 east asian ancestry cases and 16,961 east asian ancestry controls//up to 8,130 european ancestry cases and 38,987 european ancestry controls(p-value = 4E-6 ;OR = 1.28). 0.4 Genome-wide association study identifies a novel locus contributing to type 2 diabetes susceptibility in Sikhs of Punjabi origin from India. genome-wide association analysis NONHSAT144766.2 lncRNA Type ii diabetes mellitus 0.33 GAGAGATGGA(T > C)TTTTTGGCCC chr17: 796780 0.2085,0.7915 0.21377261722731906,0.78622738277268093 Region score:0.26; TSS score:0.25; Unmatched score:0.1; Average GERP:-0.5648990099009901 GeneName:AC087392.5; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000277491; TranscriptID:ENST00000612517; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MRM3; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000171861; TranscriptID:ENST00000304478; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NXN; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000167693; TranscriptID:ENST00000336868; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003237 28067908 NONHSAT210327.1 rs71559680 ? N/A 12,194 european and unknown ancestry cases//28,072 european and unknown ancestry controls EFO_0000384 N/A Associate Crohn's disease rs71559680-? of NONHSAT210327.1 is significantly associated with the crohn's disease by using GWAS analysis in 12,194 european and unknown ancestry cases//28,072 european and unknown ancestry controls(p-value = 2E-8 ;OR = ?). 0.4 Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease. genome-wide association analysis NONHSAT210327.1 lncRNA Crohn's disease 0.451 GACAGCATAA(CTAG > CCAT)TAGTATATAA chr6: 21430496 N/A RS=71559680;RSPOS=21430497;dbSNPBuildID=130;SSR=0;SAO=0;VP=0x050128000005000102020800;WGT=1;VC=MNV;PM;PMC;SLO;ASP;GNO;MTP N/A N/A NCRV0000003237 26192919 NONHSAT210327.1 rs71559680 A N/A 5,956 european ancestry cases//14,927 european ancestry controls; 14,594 european ancestry cases//26,715 european ancestry controls//151 iranian ancestry cases//342 iranian ancestry controls//184 indian ancestry cases//990 indian ancestry controls//1,690 east asian ancestry cases//3,719 east asian ancestry controls EFO_0000384 N/A Associate Crohn's disease rs71559680-A of NONHSAT210327.1 is significantly associated with the crohn's disease by using GWAS analysis in 5,956 european ancestry cases//14,927 european ancestry controls; 14,594 european ancestry cases//26,715 european ancestry controls//151 iranian ancestry cases//342 iranian ancestry controls//184 indian ancestry cases//990 indian ancestry controls//1,690 east asian ancestry cases//3,719 east asian ancestry controls(p-value = 2E-15 ;OR = 1.1003201). 0.4 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. genome-wide association analysis NONHSAT210327.1 lncRNA Crohn's disease 0.451 GACAGCATAA(CTAG > CCAT)TAGTATATAA chr6: 21430496 N/A RS=71559680;RSPOS=21430497;dbSNPBuildID=130;SSR=0;SAO=0;VP=0x050128000005000102020800;WGT=1;VC=MNV;PM;PMC;SLO;ASP;GNO;MTP N/A N/A NCRV0000003238 26034056 NONHSAT028094.2 rs10875943 C N/A 6,406 european ancestry cases//601 african american cases//288 east asian ancestry cases//488 latino cases30,866 european ancestry controls//1,650 african american controls//2,938 east asian ancestry controls//3,141 latino controls; 4,599 european ancestry cases//2,265 african american cases//2,940 european ancestry controls//2,414 african american controls EFO_0001663 N/A Associate Prostate cancer rs10875943-C of NONHSAT028094.2 is significantly associated with the prostate cancer by using GWAS analysis in 6,406 european ancestry cases//601 african american cases//288 east asian ancestry cases//488 latino cases30,866 european ancestry controls//1,650 african american controls//2,938 east asian ancestry controls//3,141 latino controls; 4,599 european ancestry cases//2,265 african american cases//2,940 european ancestry controls//2,414 african american controls(p-value = 2E-6 ;OR = 1.12). 0.4 A large multiethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences. genome-wide association analysis NONHSAT028094.2 lncRNA Prostate cancer 0.451 AGCCTGACCC(T > A,C)AGGGCAATGC chr12: 49282227 0.4181,.,0.5819 0.56766851427115188,0.00061321355759429,0.43171827217125382 Region score:0.28; TSS score:0.46; Unmatched score:0.71; Average GERP:-0.5208534653465349 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000051601; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003238 21743467 NONHSAT028094.2 rs10875943 C N/A 6,621 european ancestry cases//6,939 european ancestry controls; 22,957 european ancestry cases//23,234 european ancestry controls//420 east asian ancestry cases//433 east asian ancestry controls//112 african american cases//298 african american controls//7,140 cases//5,455 controls EFO_0001663 N/A Associate Prostate cancer rs10875943-C of NONHSAT028094.2 is significantly associated with the prostate cancer by using GWAS analysis in 6,621 european ancestry cases//6,939 european ancestry controls; 22,957 european ancestry cases//23,234 european ancestry controls//420 east asian ancestry cases//433 east asian ancestry controls//112 african american cases//298 african american controls//7,140 cases//5,455 controls(p-value = 7E-12 ;OR = 1.07). 0.4 Seven prostate cancer susceptibility loci identified by a multi-stage genome-wide association study. genome-wide association analysis NONHSAT028094.2 lncRNA Prostate cancer 0.451 AGCCTGACCC(T > A,C)AGGGCAATGC chr12: 49282227 0.4181,.,0.5819 0.56766851427115188,0.00061321355759429,0.43171827217125382 Region score:0.28; TSS score:0.46; Unmatched score:0.71; Average GERP:-0.5208534653465349 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000051601; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003239 25517131 NONHSAT188100.1 rs734556 ? N/A 2,640 individuals; up to 714 individuals EFO_0006898 N/A Associate Airway wall thickness rs734556-? of NONHSAT188100.1 is significantly associated with the airway wall thickness by using GWAS analysis in 2,640 individuals; up to 714 individuals(p-value = 2E-6 ;OR = 0.036). 0.4 Novel genes for airway wall thickness identified with combined genome-wide association and expression analyses. genome-wide association analysis NONHSAT188100.1 lncRNA Airway wall thickness measurement 0.33 GGACTGAAGG(C > G,T)TAAGGGGAGA chr2: 223696612 0.6444,.,0.3556 0.54913672273190621,0.00635512232415902,0.44450815494393476 Region score:0.33; TSS score:0.51; Unmatched score:0.22; Average GERP:-0.9639633663366335 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000638145; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003240 25288136 NONHSAT211718.1 rs6968554 A N/A 17,479 european ancestry high consumption individuals//31,049 european ancestry no or low consumption individuals; 6,497 european ancestry high consumption individuals//432 african american high consumption individuals//6,972 european ancestry no or low consumption individuals//3,413 african american no or low consumption individuals EFO_0004330 N/A Associate Coffee consumption rs6968554-A of NONHSAT211718.1 is significantly associated with the coffee consumption by using GWAS analysis in 17,479 european ancestry high consumption individuals//31,049 european ancestry no or low consumption individuals; 6,497 european ancestry high consumption individuals//432 african american high consumption individuals//6,972 european ancestry no or low consumption individuals//3,413 african american no or low consumption individuals(p-value = 7E-15 ;OR = 0.2). 0.4 Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption. genome-wide association analysis NONHSAT211718.1 lncRNA Coffee consumption 0.33 AAGCTGGTAG(A > G,T)TCAGAAGTTC chr7: 17247482 0.4561,0.5439,. 0.38622101172273190,0.61376306065239551,0.00001592762487257 Region score:0.31; TSS score:0.18; Unmatched score:0.04; Average GERP:-0.03999009900990111 GeneName:AC073332.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000237773; TranscriptID:ENST00000643090; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AHR; CADD-Score:3; Consquence:5_prime_UTR; GeneID:ENSG00000106546; TranscriptID:ENST00000642825; AnnoType:5PRIME_UTR; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003241 20966902 NONHSAT029092.2 rs7302017 G N/A 1,779 filipino ancestry females EFO_0004342 N/A Associate Waist circumference rs7302017-G of NONHSAT029092.2 is significantly associated with the waist circumference by using GWAS analysis in 1,779 filipino ancestry females(p-value = 5E-6 ;OR = 1.71). 0.4 Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women. genome-wide association analysis NONHSAT029092.2 lncRNA Waist circumference 0.33 CTTATTTAGT(G > A)TAATGTCCTC chr12: 62610803 0.2865,0.7135 0.21498311671763506,0.78501688328236493 Region score:0.25; TSS score:0.12; Unmatched score:0.05; Average GERP:-0.009821386138613832 GeneName:AC048341.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000257354; TranscriptID:ENST00000550290; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003242 21073609 miR-196a2 rs11614913 T N/a 552 gc, and 697 non-cancer subjects EFO_0000178 N/A Poor prognosis Gastric cancer rs11614913-T of miR-196a2 and its dysfunction is significantly associated with the increasing risk of gastric cancer by using case-control analysis in 552 GC, and 697 non-cancer subjects. 0.4 Association between common genetic variants in pre-microRNAs and gastric cancer risk in Japanese population. case-control analysis hsa-mir-196a-2 miRNA Gastric cancer 0.077 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003242 26345764 miR-196a-2 rs11614913 T N/A 8285 patients and 10,716 controls. EFO_0000178 N/A no significance for risk gastric carcinoma rs11614913-T of hsa-mir-196a-2 and its dysfunction is not significantly associated with Gastric carcinoma by using meta-analysis in 8285 patients and 10,716 controls. -0.4 Association between five common polymorphisms in microRNA genes and the risk of gastric cancer: a meta-analysis. meta-analysis hsa-mir-196a-2 miRNA Gastric carcinoma 0.077 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003242 28922434 miR-196a2 rs11614913 T N/A 142 gastric cancer patients and 288 age and gender matched cancer-free controls EFO_0000178 N/A no significance for risk gastric carcinoma rs11614913-T of hsa-mir-196a-2 and its dysfunction is not significantly associated with Gastric carcinoma by using case-control analysis in 142 gastric cancer patients and 288 age and gender matched cancer-free controls -0.4 Association of microRNA Polymorphisms with the Risk of Gastric Cancer in a Romanian Population. case-control analysis hsa-mir-196a-2 miRNA Gastric carcinoma 0.077 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003242 25202115 miR-196a2 rs11614913 C N/A 130 advanced GCs performing chemotherapy. EFO_0000178 N/A no significance for risk gastric carcinoma rs11614913-C of hsa-mir-196a-2 and its dysfunction is not significantly associated with Gastric carcinoma by using case-control analysis in 130 advanced GCs performing chemotherapy. -0.4 Association between common genetic variants in pre-microRNAs and prognosis of advanced gastric cancer treated with chemotherapy. case-control analysis hsa-mir-196a-2 miRNA Gastric carcinoma 0.077 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003242 19834808 miR-196a-2 rs11614913 C recessive 213 gastric cancer patients and 213 age- and sex-matched controls EFO_0000178 N/A increasing risk gastric carcinoma rs11614913-C of hsa-mir-196a-2 and its dysfunction is significantly associated with the increasing risk of Gastric carcinoma by using case-control analysis in 213 gastric cancer patients and 213 age- and sex-matched controls 0.4 Association of microRNA-196a-2 gene polymorphism with gastric cancer risk in a Chinese population. case-control analysis hsa-mir-196a-2 miRNA Gastric carcinoma 0.077 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003242 23423813 MIR196A2 rs11614913 C recessive The test set comprised 749 cases and 900 controls, while the validation set enrolled 940 cases and 1046 controls EFO_0000178 N/A decreased risk and better prognosis gastric carcinoma rs11614913-C of hsa-mir-196a-2 and its dysfunction is significantly associated with the decreasing risk and better prognosis of Gastric carcinoma by using case-control analysis in The test set comprised 749 cases and 900 controls, while the validation set enrolled 940 cases and 1046 controls 0.4 A functional polymorphism in MIR196A2 is associated with risk and prognosis of gastric cancer. case-control analysis hsa-mir-196a-2 miRNA Gastric carcinoma 0.077 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003242 24716941 miR-196a2 rs11614913 C recessive 524 subjects without cancer and 827 subjects with at least one type of cancer, such as gastric (n=160), lung (n=148), colorectal (n=116) or others. EFO_0000178 N/A increasing risk gastric carcinoma rs11614913-C of hsa-mir-196a-2 and its dysfunction is significantly associated with the increasing risk of Gastric carcinoma by using case-control analysis in 524 subjects without cancer and 827 subjects with at least one type of cancer, such as gastric (n=160), lung (n=148), colorectal (n=116) or others. 0.4 Association analysis of single nucleotide polymorphisms in miR-146a and miR-196a2 on the prevalence of cancer in elderly Japanese: a case-control study. case-control analysis hsa-mir-196a-2 miRNA Gastric carcinoma 0.077 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003242 26406571 miR-196a2 rs11614913 C N/A several case-control studies EFO_0000178 N/A no significance for risk gastric carcinoma rs11614913-C of hsa-mir-196a-2 and its dysfunction is not significantly associated with Gastric carcinoma by using meta-analysis in several case-control studies -0.4 The association between two common polymorphisms (miR-146a rs2910164 and miR-196a2 rs11614913) and susceptibility to gastric cancer: A meta-analysis. meta-analysis hsa-mir-196a-2 miRNA Gastric carcinoma 0.077 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003242 23975664 mir-196a2 rs11614913 ? Dominant 674 advanced gastric cancer patients received 5-fluorouracil (f), leucovorin (l), oxaliplatin (o) or fl + cisplatin (p) or additional docetaxel (t) to flo (flot) within four clinical trials EFO_0000178 N/A Better prognosis Gastric cancer rs11614913-? of mir-196a2 and its dysfunction is significantly associated with the better prognosis of gastric cancer by using case-control analysis in 674 advanced gastric cancer patients received 5-fluorouracil (F), leucovorin (L), oxaliplatin (O) or FL + cisplatin (P) or additional docetaxel (T) to FLO (FLOT) within four clinical trials. 0.4 Prognostic role of microRNA polymorphisms in advanced gastric cancer: a translational study of the Arbeitsgemeinschaft Internistische Onkologie (AIO). case-control analysis hsa-mir-196a-2 miRNA Gastric cancer 0.077 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003243 27846195 NONHSAT202605.1 rs192381152 A N/A 1,390 european ancestry individuals EFO_0000692 paliperidone Associate Response to paliperidone in schizophrenia (panss score) rs192381152-A of NONHSAT202605.1 is significantly associated with the response to paliperidone in schizophrenia (panss score) by using GWAS analysis in 1,390 european ancestry individuals(p-value = 3E-6 ;OR = 4.0968). 0.4 Genome-wide association study of paliperidone efficacy. genome-wide association analysis NONHSAT202605.1 lncRNA Schizophrenia 0.33 AAAATGTAGT(A > G)TATATATATA chr5: 56031173 0.8528,0.1472 0.89105504587155963,0.10894495412844036 Region score:0.28; TSS score:0.18; Unmatched score:0; Average GERP:0.149 GeneName:AC008892.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000249236; TranscriptID:ENST00000645512; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003244 27182965 NONHSAT163387.1 rs9300169 ? N/A 9,009 european ancestry cases//8,491 european ancestry controls EFO_0004191 N/A Associate Male-pattern baldness rs9300169-? of NONHSAT163387.1 is significantly associated with the male-pattern baldness by using GWAS analysis in 9,009 european ancestry cases//8,491 european ancestry controls(p-value = 4E-12 ;OR = 1.1918951). 0.4 Detection and interpretation of shared genetic influences on 42 human traits. genome-wide association analysis NONHSAT163387.1 lncRNA Androgenetic alopecia 0.33 GAACCATAGC(A > G)ACACACCACA chr12: 26273738 0.5509,0.4491 0.46022075688073394,0.53977924311926605 Region score:0.4; TSS score:0.43; Unmatched score:0.49; Average GERP:-0.4956089108910891 GeneName:AC022509.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000255750; TranscriptID:ENST00000541940; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC022509.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000256234; TranscriptID:ENST00000540392; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC022509.4; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000278095; TranscriptID:ENST00000621404; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000049985; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SSPN; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000123096; TranscriptID:ENST00000534829; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003245 28430825 NONHSAT216823.1 rs149352150 G N/A 16,559 african ancestry men//26,193 african ancestry women; 2,458 african ancestry men//7,685 african ancestry women//152,893 european ancestry men//171,977 european ancestry women EFO_0001073 N/A Associate Body mass index (adult) rs149352150-G of NONHSAT216823.1 is significantly associated with the body mass index (adult) by using GWAS analysis in 16,559 african ancestry men//26,193 african ancestry women; 2,458 african ancestry men//7,685 african ancestry women//152,893 european ancestry men//171,977 european ancestry women(p-value = 5E-8 ;OR = 0.299). 0.4 Discovery and fine-mapping of adiposity loci using high density imputation of genome-wide association studies in individuals of African ancestry: African Ancestry Anthropometry Genetics Consortium. genome-wide association analysis NONHSAT216823.1 lncRNA Obesity 0.33 AAAGAAAAAG(A > G)GGTAAAGAGA chr8: 19878643 0.999,0.0009984 0.99921954638124362,0.00078045361875637 Region score:0.31; TSS score:0.14; Unmatched score:0.03; Average GERP:-0.45201782178217814 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003246 27863252 NONHSAT144904.2 rs4455005 A N/A 164,339 european ancestry individuals EFO_0007985 N/A Associate Plateletcrit rs4455005-A of NONHSAT144904.2 is significantly associated with the plateletcrit by using GWAS analysis in 164,339 european ancestry individuals(p-value = 4E-24 ;OR = 0.03903548). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT144904.2 lncRNA Plateletcrit 0.33 CCCCCAGGTG(G > A)GTCCTCGAGC chr17: 2055242 0.4345,0.5655 0.36988723241590214,0.63011276758409785 N/A GeneName:HIC1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000177374; TranscriptID:ENST00000322941; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR212; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000267195; TranscriptID:ENST00000586026; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000282083; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000547106; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SMG6; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000070366; TranscriptID:ENST00000263073; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003247 27863252 NONHSAT179957.1 rs45541434 T N/A 164,339 european ancestry individuals EFO_0007985 N/A Associate Plateletcrit rs45541434-T of NONHSAT179957.1 is significantly associated with the plateletcrit by using GWAS analysis in 164,339 european ancestry individuals(p-value = 5E-10 ;OR = 0.1052062). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT179957.1 lncRNA Plateletcrit 0.33 CTGCAGCTGC(C > T)GGAGCAGGAC chr19: 55182101 0.9948,0.005192 0.99323872324159021,0.00676127675840978 Region score:0.3; TSS score:0.37; Unmatched score:0.55; Average GERP:1.4393396039603965 GeneName:AC010327.3; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000267577; TranscriptID:ENST00000591665; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PTPRH; CADD-Score:7; Consquence:missense; GeneID:ENSG00000080031; TranscriptID:ENST00000376350; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SYT5; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000129990; TranscriptID:ENST00000354308; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003248 27798624 NONHSAT112236.2 rs236349 G N/A 127,919 european ancestry individuals//2,478 asian ancestry individuals//1,734 black individuals//684 mixed ancestry individuals//1,436 individuals; 130,795 european ancestry individuals EFO_0003777 N/A Associate Resting heart rate rs236349-G of NONHSAT112236.2 is significantly associated with the resting heart rate by using GWAS analysis in 127,919 european ancestry individuals//2,478 asian ancestry individuals//1,734 black individuals//684 mixed ancestry individuals//1,436 individuals; 130,795 european ancestry individuals(p-value = 1E-15 ;OR = 0.2812). 0.4 Identification of genomic loci associated with resting heart rate and shared genetic predictors with all-cause mortality. genome-wide association analysis NONHSAT112236.2 lncRNA Heart disease 0.33 TCCAGGAGGC(A > G)TAAGATTGGT chr6: 36852789 0.345,0.655 0.32011340468909276,0.67988659531090723 Region score:0.4; TSS score:0.26; Unmatched score:0.27; Average GERP:0.11659207920792072 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000320472; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PPIL1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000137168; TranscriptID:ENST00000373699; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003249 21743057 NONHSAT216393.1 rs13252298 A N/A 2,782 european ancestry cases//4,458 european ancestry controls; 7,358 european ancestry cases//6,732 european ancestry controls EFO_0001663 N/A Associate Prostate cancer rs13252298-A of NONHSAT216393.1 is significantly associated with the prostate cancer by using GWAS analysis in 2,782 european ancestry cases//4,458 european ancestry controls; 7,358 european ancestry cases//6,732 european ancestry controls(p-value = 4E-6 ;OR = 1.12). 0.4 Genome-wide association study identifies new prostate cancer susceptibility loci. genome-wide association analysis NONHSAT216393.1 lncRNA Prostate cancer 0.451 CAGATACAAT(A > G)TCAGAAACTT chr8: 127082911 0.7075,0.2925 0.76690717380224260,0.23309282619775739 Region score:0.29; TSS score:0.32; Unmatched score:0.47; Average GERP:-0.5908851485148515 GeneName:AC020688.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000224722; TranscriptID:ENST00000519282; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CASC19; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000254166; TranscriptID:ENST00000523510; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PCAT1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000253438; TranscriptID:ENST00000646670; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PRNCR1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000282961; TranscriptID:ENST00000635449; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003249 26034056 NONHSAT216393.1 rs13252298 A N/A 6,406 european ancestry cases//601 african american cases//288 east asian ancestry cases//488 latino cases30,866 european ancestry controls//1,650 african american controls//2,938 east asian ancestry controls//3,141 latino controls; 4,599 european ancestry cases//2,265 african american cases//2,940 european ancestry controls//2,414 african american controls EFO_0001663 N/A Associate Prostate cancer rs13252298-A of NONHSAT216393.1 is significantly associated with the prostate cancer by using GWAS analysis in 6,406 european ancestry cases//601 african american cases//288 east asian ancestry cases//488 latino cases30,866 european ancestry controls//1,650 african american controls//2,938 east asian ancestry controls//3,141 latino controls; 4,599 european ancestry cases//2,265 african american cases//2,940 european ancestry controls//2,414 african american controls(p-value = 2E-6 ;OR = 1.11). 0.4 A large multiethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences. genome-wide association analysis NONHSAT216393.1 lncRNA Prostate cancer 0.451 CAGATACAAT(A > G)TCAGAAACTT chr8: 127082911 0.7075,0.2925 0.76690717380224260,0.23309282619775739 Region score:0.29; TSS score:0.32; Unmatched score:0.47; Average GERP:-0.5908851485148515 GeneName:AC020688.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000224722; TranscriptID:ENST00000519282; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CASC19; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000254166; TranscriptID:ENST00000523510; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PCAT1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000253438; TranscriptID:ENST00000646670; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PRNCR1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000282961; TranscriptID:ENST00000635449; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003250 28928442 NONHSAT206987.1 rs28551159 ? N/A 35,000 european ancestry cases//33,478 european ancestry controls EFO_0008413 N/A Associate Urinary tract infection frequency rs28551159-? of NONHSAT206987.1 is significantly associated with the urinary tract infection frequency by using GWAS analysis in 35,000 european ancestry cases//33,478 european ancestry controls(p-value = 1E-7 ;OR = 0.0622). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. genome-wide association analysis NONHSAT206987.1 lncRNA Susceptibility to urinary tract infection measurement 0.33 ATGAACCCGG(A > G)AGGCAGAGCT chr6: 26376140 0.9193,0.08067 0.92150070081549439,0.07849929918450560 Region score:0.21; TSS score:0.37; Unmatched score:0.48; Average GERP:-0.025148514851485157 GeneName:BTN3A2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000186470; TranscriptID:ENST00000356386; AnnoType:INTRONIC; mirSVR-Score:-0.0653; mirSVR-E:-14.25 | NCRV0000003251 26192919 NONHSAT206588.1 rs7773324 G N/A 5,956 european ancestry cases//14,927 european ancestry controls; 14,594 european ancestry cases//26,715 european ancestry controls//151 iranian ancestry cases//342 iranian ancestry controls//184 indian ancestry cases//990 indian ancestry controls//1,690 east asian ancestry cases//3,719 east asian ancestry controls EFO_0000384 N/A Associate Crohn's disease rs7773324-G of NONHSAT206588.1 is significantly associated with the crohn's disease by using GWAS analysis in 5,956 european ancestry cases//14,927 european ancestry controls; 14,594 european ancestry cases//26,715 european ancestry controls//151 iranian ancestry cases//342 iranian ancestry controls//184 indian ancestry cases//990 indian ancestry controls//1,690 east asian ancestry cases//3,719 east asian ancestry controls(p-value = 1E-9 ;OR = 1.0819273). 0.4 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. genome-wide association analysis NONHSAT206588.1 lncRNA Crohn's disease 0.33 TCCCTGTTTC(G > A,C)CTCATTGGAC chr6: 382559 0.6522,0.3478,. 0.53144113149847094,0.45512391692150866,0.01343495158002038 Region score:0.36; TSS score:0.44; Unmatched score:0.25; Average GERP:-0.968444554455446 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003252 27126917 NONHSAT113712.2 rs6919854 T N/A 874 european ancestry individuals EFO_0007828 N/A Associate Daytime sleep phenotypes rs6919854-T of NONHSAT113712.2 is significantly associated with the daytime sleep phenotypes by using GWAS analysis in 874 european ancestry individuals(p-value = 7E-6 ;OR = 0.07633). 0.4 Genome-wide association analysis of actigraphic sleep phenotypes in the LIFE Adult Study. genome-wide association analysis NONHSAT113712.2 lncRNA Daytime rest measurement 0.33 ACATTCCATA(A > C,T)GTCAGAACTC chr6: 79878444 0.4185,.,0.5815 0.39500509683995922,0.00000796381243628,0.60498693934760448 Region score:0.17; TSS score:0.2; Unmatched score:0.15; Average GERP:0.10935643564356429 GeneName:AL132875.2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000233835; TranscriptID:ENST00000436418; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003253 24684796 NONHSAT211829.1 rs7800418 T N/A 423 type 2 diabetes cases and 127 unaffected siblings from 257 families EFO_0003925 N/A Associate Cognitive function rs7800418-T of NONHSAT211829.1 is significantly associated with the cognitive function by using GWAS analysis in 423 type 2 diabetes cases and 127 unaffected siblings from 257 families(p-value = 7E-7 ;OR = 1.9628). 0.4 Heritability and genetic association analysis of cognition in the Diabetes Heart Study. genome-wide association analysis NONHSAT211829.1 lncRNA Cognition 0.33 AGTTACTATT(C > A,T)GCAGCATACC chr7: 26566386 0.7015,.,0.2985 0.64850917431192660,0.00000796381243628,0.35148286187563710 Region score:0.33; TSS score:0.17; Unmatched score:0.11; Average GERP:0.1279405940594058 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003254 21302353 NONHSAT202627.1 rs1844437 C N/A 3,304 european ancestry individuals EFO_0004242 N/A Associate Hoarding rs1844437-C of NONHSAT202627.1 is significantly associated with the hoarding by using GWAS analysis in 3,304 european ancestry individuals(p-value = 2E-6 ;OR = 0.62). 0.4 Genome-wide association study of hoarding traits. genome-wide association analysis NONHSAT202627.1 lncRNA Obsessive-compulsive disorder 0.33 ATGAAAATAA(C > A,G)TAAACAAGCT chr5: 58025127 0.133,.,0.867 0.15206103465851172,0.00857702599388379,0.83936193934760448 Region score:0.4; TSS score:0.24; Unmatched score:0.04; Average GERP:-0.28509108910891073 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003255 27863252 NONHSAT187004.1 rs7596219 G N/A 164,454 european ancestry individuals EFO_0004584 N/A Associate Mean platelet volume rs7596219-G of NONHSAT187004.1 is significantly associated with the mean platelet volume by using GWAS analysis in 164,454 european ancestry individuals(p-value = 2E-12 ;OR = 0.08218895). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT187004.1 lncRNA Mean platelet volume 0.33 TCTAACTTCC(A > G)GATATTTATC chr2: 66415818 0.8139,0.1861 0.85837155963302752,0.14162844036697247 Region score:0.21; TSS score:0.23; Unmatched score:0.04; Average GERP:-0.24081836734693882 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003256 27670397 NONHSAT184420.1 rs12464483 A N/A 148 european ancestry cases//810 european ancestry controls; 58 european ancestry cases//352 european ancestry controls EFO_0003843 N/A Associate Pre-treatment pain in head and neck squamous cell carcinoma rs12464483-A of NONHSAT184420.1 is significantly associated with the pre-treatment pain in head and neck squamous cell carcinoma by using GWAS analysis in 148 european ancestry cases//810 european ancestry controls; 58 european ancestry cases//352 european ancestry controls(p-value = 2E-6 ;OR = 1.7). 0.4 Genome-wide association study suggests common variants within RP11-634B7.4 gene influencing severe pre-treatment pain in head and neck cancer patients. genome-wide association analysis NONHSAT184420.1 lncRNA Pain 0.33 CGAAGTGGAC(G > A)AGGTGGGAAA chr2: 30666058 0.8363,0.1637 0.86289500509683995,0.13710499490316004 Region score:0.26; TSS score:0.36; Unmatched score:0.35; Average GERP:-0.6910910891089108 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000114862; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003257 28334935 NONHSAT215396.1 rs4841132 A N/A 12,586 hispanic/latino individuals EFO_0006334 N/A Associate Iron status biomarkers (total iron binding capacity) rs4841132-A of NONHSAT215396.1 is significantly associated with the iron status biomarkers (total iron binding capacity) by using GWAS analysis in 12,586 hispanic/latino individuals(p-value = 7E-8 ;OR = 0.116). 0.4 Genome-wide association study of iron traits and relation to diabetes in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL): potential genomic intersection of iron and glucose regulation? genome-wide association analysis NONHSAT215396.1 lncRNA Total iron binding capacity 0.33 CCAGGGCAGC(A > G)TCCAGCTGGT chr8: 9326086 0.09325,0.9067 0.09840086646279306,0.90159913353720693 Region score:0.46; TSS score:0.24; Unmatched score:0.62; Average GERP:-1.1010772277227727 GeneName:AC022784.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000248538; TranscriptID:ENST00000520390; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0795; mirSVR-E:-25.94 | NCRV0000003258 27863252 NONHSAT211335.1 rs2451279 G N/A 170,143 european ancestry individuals EFO_0009390 N/A Associate Sum basophil neutrophil counts rs2451279-G of NONHSAT211335.1 is significantly associated with the sum basophil neutrophil counts by using GWAS analysis in 170,143 european ancestry individuals(p-value = 4E-12 ;OR = 0.02611341). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT211335.1 lncRNA Sum of neutrophil and eosinophil counts 0.33 CATGGAGAAG(A > G)GCTGGCTCAG chr6: 159094045 0.1889,0.8111 0.26914500509683995,0.73085499490316004 Region score:0.2; TSS score:0.32; Unmatched score:0.32; Average GERP:-1.5931219801980196 GeneName:AL035530.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000226032; TranscriptID:ENST00000645980; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AL356417.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000224478; TranscriptID:ENST00000642586; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AL356417.3; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000285492; TranscriptID:ENST00000642829; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003259 23527680 NONHSAT103631.2 rs10463833 A N/A 1,851 individuals; 155 individuals EFO_0003888 N/A Associate Attention deficit hyperactivity disorder (hyperactivity-impulsivity symptoms) rs10463833-A of NONHSAT103631.2 is significantly associated with the attention deficit hyperactivity disorder (hyperactivity-impulsivity symptoms) by using GWAS analysis in 1,851 individuals; 155 individuals(p-value = 5E-6 ;OR = ?). 0.4 Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits. genome-wide association analysis NONHSAT103631.2 lncRNA Attention deficit hyperactivity disorder 0.33 GGTGAACCCA(G > A,T)TGTCTACTGA chr5: 127786620 0.7813,0.2187,. 0.83466329001019367,0.16530485474006116,0.00003185524974515 Region score:0.37; TSS score:0.28; Unmatched score:0.51; Average GERP:0.6244821782178217 GeneName:CCDC192; CADD-Score:2; Consquence:intron; GeneID:ENSG00000230561; TranscriptID:ENST00000514853; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CUL1P1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000251032; TranscriptID:ENST00000509510; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003260 28441456 NONHSAT224225.1 rs143386295 T N/A 2,187 european ancestry individuals EFO_0007845 N/A Associate Facial morphology (factor 15//philtrum width) rs143386295-T of NONHSAT224225.1 is significantly associated with the facial morphology (factor 15//philtrum width) by using GWAS analysis in 2,187 european ancestry individuals(p-value = 1E-6 ;OR = 0.7395). 0.4 Genome-wide association study of facial morphology reveals novel associations with FREM1 and PARK2. genome-wide association analysis NONHSAT224225.1 lncRNA Lip morphology measurement 0.33 AGCGGGGTGG(A > T)TCACTTGAGG chrX: 130112644 0.9748,0.02517 0.97757390417940876,0.02242609582059123 Region score:0.34; TSS score:0.48; Unmatched score:0.51; Average GERP:0.11468316831683159 GeneName:ELF4; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000102034; TranscriptID:ENST00000308167; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003261 28346442 NONHSAT031256.2 rs7953249 G N/A 14,049 european ancestry cases,?40,941 european ancestry controls EFO_1001516 N/A Associate High-grade serous ovarian cancer rs7953249-G of NONHSAT031256.2 is significantly associated with the high-grade serous ovarian cancer by using GWAS analysis in 14,049 european ancestry cases,?40,941 european ancestry controls(p-value = 8E-7 ;OR = 1.0811644). 0.4 Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer. genome-wide association analysis NONHSAT031256.2 lncRNA Ovarian serous cancer 0.33 GATATCTGTC(G > A)ACGGTAAATG chr12: 120965921 0.4311,0.5689 0.40623407237512742,0.59376592762487257 Region score:0.26; TSS score:0.34; Unmatched score:0.36; Average GERP:-0.8084158415841585 GeneName:HNF1A-AS1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000241388; TranscriptID:ENST00000539163; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000472095; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000472096; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003262 26178671 let-7 rs10877887 C N/a 503 metabolic syndrome patients and 529 normal controls in a chinese population EFO_0000195 N/A Increasing risk Metabolic syndrome rs10877887-C of let-7 and its dysfunction is significantly associated with the increasing risk of metabolic syndrome by using case-control analysis in 503 metabolic syndrome patients and 529 normal controls in a Chinese population. 0.4 Let-7 related genetic variation and risk of metabolic syndrome in a Chinese population. case-control analysis hsa-let-7a-1 miRNA Metabolic syndrome 0.33 AGCGGCTCTC(T > C)CCGCAGGACA chr12: 62603400 0.602,0.398 0.57891341743119266,0.42108658256880733 Region score:0.44; TSS score:0.42; Unmatched score:0.97; Average GERP:-0.4853336633663367 GeneName:AC048341.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000257354; TranscriptID:ENST00000550290; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC048341.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000275180; TranscriptID:ENST00000619323; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LINC01465; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000221949; TranscriptID:ENST00000408887; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIRLET7I; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000199179; TranscriptID:ENST00000362309; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MON2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000061987; TranscriptID:ENST00000393630; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000052984; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003263 25740697 piR_020980 rs9368782 G N/a 1147 patients with crc (cases) and 1203 cancer漏free individuals EFO_0005842 N/A No significance for risk Colorectal cancer rs9368782-G of piR_020980 and its dysfunction is not significantly associated with colorectal cancer by using case-control analysis in 1147 patients with CRC (cases) and 1203 cancer漏free individuals . -0.4 Genetic variants in noncoding PIWI-interacting RNA and colorectal cancer risk. case-control analysis piR_020980 piRNA Colorectal cancer -0.33 CTAAAGACAG(A > G)CTTGCAGTTC chr6: 33904839 0.7376,0.2624 0.76639748980632008,0.23360251019367991 Region score:0.17; TSS score:0.47; Unmatched score:0.41; Average GERP:-1.185616831683168 GeneName:AL138889.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000233183; TranscriptID:ENST00000451317; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003264 21750679 NONHSAT184315.1 rs13021401 T N/A 564 european ancestry cases//1,776 european ancestry controls; 1,682 european ancestry cases//3,926 european ancestry controls EFO_0000717 N/A Associate Systemic sclerosis rs13021401-T of NONHSAT184315.1 is significantly associated with the systemic sclerosis by using GWAS analysis in 564 european ancestry cases//1,776 european ancestry controls; 1,682 european ancestry cases//3,926 european ancestry controls(p-value = 3E-6 ;OR = 1.21). 0.4 Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis. genome-wide association analysis NONHSAT184315.1 lncRNA Systemic scleroderma 0.33 GCACAGCAGC(C > T)TTGCCTGCCT chr2: 20488758 0.6697,0.3303 0.75341647553516819,0.24658352446483180 Region score:0.26; TSS score:0.5; Unmatched score:0.34; Average GERP:-1.1431049504950492 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000113811; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003265 28240269 NONHSAT061043.2 rs5498 G N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0004520 N/A Associate Blood protein levels rs5498-G of NONHSAT061043.2 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 8E-267 ;OR = 1.217). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. genome-wide association analysis NONHSAT061043.2 lncRNA Icam-1 measurement 0.33 GGTCACCCGC(A > G)AGGTGACCGT chr19: 10285007 0.6412,0.3588 0.64197884811416921,0.35802115188583078 Region score:0.31; TSS score:0.24; Unmatched score:0.46; Average GERP:-1.2877524752475251 GeneName:AC011511.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000266978; TranscriptID:ENST00000592893; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC011511.5; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000267607; TranscriptID:ENST00000589379; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ICAM1; CADD-Score:7; Consquence:missense; GeneID:ENSG00000090339; TranscriptID:ENST00000264832; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ICAM4; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000105371; TranscriptID:ENST00000340992; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ICAM5; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000105376; TranscriptID:ENST00000221980; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003266 27576168 miR-34b/c rs28690953 G Dominant 754 adhd subjects and 766 controls EFO_0003888 N/A Increasing risk Attention deficit and hyperactivity disorder rs28690953-G of miR-34b/c and its dysfunction is significantly associated with the increasing risk of Attention deficit and hyperactivity disorder by using case-control analysis in 754 ADHD subjects and 766 controls . 0.4 Preliminary evidence for association of genetic variants in pri-miR-34b/c and abnormal miR-34c expression with attention deficit and hyperactivity disorder. case-control analysis hsa-mir-34b miRNA Attention deficit hyperactivity disorder 0.33 TTGTTTTTTT(T > G)TCAATATTCC chr11: 111513701 0.9433,0.05671 0.90736493374108053,0.09263506625891946 Region score:0.35; TSS score:0.54; Unmatched score:0.78; Average GERP:-1.333681188118812 GeneName:AP002008.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000254980; TranscriptID:ENST00000530283; AnnoType:DOWNSTREAM; mirSVR-Score:-1.1041; mirSVR-E:-12.96 | GeneName:BTG4; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000137707; TranscriptID:ENST00000356018; AnnoType:UPSTREAM; mirSVR-Score:-1.1041; mirSVR-E:-12.96 | GeneName:C11orf88; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000183644; TranscriptID:ENST00000332814; AnnoType:UPSTREAM; mirSVR-Score:-1.1041; mirSVR-E:-12.96 | GeneName:MIR34B; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207811; TranscriptID:ENST00000385076; AnnoType:DOWNSTREAM; mirSVR-Score:-1.1041; mirSVR-E:-12.96 | GeneName:MIR34C; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207562; TranscriptID:ENST00000384831; AnnoType:DOWNSTREAM; mirSVR-Score:-1.1041; mirSVR-E:-12.96 | NCRV0000003267 25650003 miR-146a rs2910164 G Codominant Chinese Uygur (n = 662), Kazak (n = 612), and Southern Han (n = 654) populations EFO_1000049 N/A increasing risk pulmonary tuberculosis rs2910164-G of hsa-mir-146a and its dysfunction is significantly associated with the increasing risk of Pulmonary tuberculosis by using case-control analysis in Chinese Uygur (n = 662), Kazak (n = 612), and Southern Han (n = 654) populations 0.4 Association of the miR-146a, miR-149, miR-196a2 and miR-499 polymorphisms with susceptibility to pulmonary tuberculosis in the Chinese Uygur, Kazak and Southern Han populations. case-control analysis hsa-mir-146a miRNA Pulmonary tuberculosis 0.33 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 0 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003268 24888363 MIR137 rs58335419 ? Dominant 345 BD patients, 426 SZ patients and 1376 healthy individuals, all unrelated, in V?sterbotten region of Northern Sweden EFO_0000289 N/A increasing risk bipolar disorder rs58335419-? of hsa-mir-137 and its dysfunction is significantly associated with the increasing risk of Bipolar disorder by using case-control analysis in 345 BD patients, 426 SZ patients and 1376 healthy individuals, all unrelated, in V?sterbotten region of Northern Sweden 0.9 MIR137 variants identified in psychiatric patients affect synaptogenesis and neuronal transmission gene sets. case-control analysis hsa-mir-137 miRNA Bipolar disorder 0.593 GGACCAAGCT(G > GCCGCTGCCGCTGCTA)CCGCTGCCGC chr1: 98046177 0 RS=58335419;RSPOS=98046223;dbSNPBuildID=129;SSR=0;SAO=0;VP=0x050028020005000002000200;GENEINFO=MIR137:406928|MIR2682:100616452|MIR137HG:400765;WGT=1;VC=DIV;PM;PMC;R5;ASP - GeneName:MIR137; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284202; TranscriptID:ENST00000385223; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR137HG; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000225206; TranscriptID:ENST00000634594; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR2682; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284247; TranscriptID:ENST00000580305; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000010436; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000366415; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003269 27863252 NONHSAT206588.1 rs55713716 A N/A 170,536 european ancestry individuals EFO_0007996 N/A Associate Eosinophil percentage of granulocytes rs55713716-A of NONHSAT206588.1 is significantly associated with the eosinophil percentage of granulocytes by using GWAS analysis in 170,536 european ancestry individuals(p-value = 1E-19 ;OR = 0.04562594). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT206588.1 lncRNA Eosinophil percentage of granulocytes 0.33 TGTGGTGGAC(G > A,T)TACACCATGG chr6: 376329 0.4297,0.5703,. 0.38993214831804281,0.60999617737003058,0.00007167431192660 Region score:0.37; TSS score:0.26; Unmatched score:0.2; Average GERP:-0.9792594059405939 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003270 28468790 NONHSAT168869.1 rs35946663 ? N/A 483 european ancestry trios//406 european ancestry cases//2,976 european ancestry controls//355 european and other ancestry trios//187 non-european ancestry trios. Orphanet_2445 N/A Associate Conotruncal heart defects (inherited effects) rs35946663-? of NONHSAT168869.1 is significantly associated with the conotruncal heart defects (inherited effects) by using GWAS analysis in 483 european ancestry trios//406 european ancestry cases//2,976 european ancestry controls//355 european and other ancestry trios//187 non-european ancestry trios.(p-value = 5E-6 ;OR = 1.272462). 0.4 Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects. genome-wide association analysis NONHSAT168869.1 lncRNA Conotruncal heart malformations 0.33 CCTTCCGGAT(G > A)GGGACGCGAC chr14: 96363661 0.75,0.25 0.67768061926605504,0.32231938073394495 Region score:0.41; TSS score:0.32; Unmatched score:0.92; Average GERP:-1.445115247524753 GeneName:ATG2B; CADD-Score:3; Consquence:5_prime_UTR; GeneID:ENSG00000066739; TranscriptID:ENST00000359933; AnnoType:5PRIME_UTR; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GSKIP; CADD-Score:3; Consquence:5_prime_UTR; GeneID:ENSG00000100744; TranscriptID:ENST00000556095; AnnoType:5PRIME_UTR; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000072751; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003271 24023260 NONHSAT179793.1 rs7412 T N/A 1,782 filipino ancestry mothers; 1,719 filipino ancestry offsprings EFO_0000319 N/A Associate Lipid traits rs7412-T of NONHSAT179793.1 is significantly associated with the lipid traits by using GWAS analysis in 1,782 filipino ancestry mothers; 1,719 filipino ancestry offsprings(p-value = 2E-30 ;OR = 0.09). 0.4 Genetic association with lipids in Filipinos: waist circumference modifies an APOA5 effect on triglyceride levels. genome-wide association analysis NONHSAT179793.1 lncRNA Cardiovascular disease 0.69 CCTGCAGAAG(C > T)GCCTGGCAGT chr19: 44908822 0.9249,0.07508 0.91786123853211009,0.08213876146788990 Region score:0.36; TSS score:0.39; Unmatched score:0.61; Average GERP:1.2422673267326734 GeneName:AC011481.3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000280087; TranscriptID:ENST00000623895; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:APOE; CADD-Score:7; Consquence:missense; GeneID:ENSG00000130203; TranscriptID:ENST00000252486; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003271 28270201 NONHSAT179793.1 rs7412 T N/A 19,259 british ancestry individuals from 6863 families. EFO_0000319 N/A Associate Cholesterol//total rs7412-T of NONHSAT179793.1 is significantly associated with the cholesterol//total by using GWAS analysis in 19,259 british ancestry individuals from 6863 families.(p-value = 5E-94 ;OR = 0.41957754). 0.4 Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants. genome-wide association analysis NONHSAT179793.1 lncRNA Cardiovascular disease 0.69 CCTGCAGAAG(C > T)GCCTGGCAGT chr19: 44908822 0.9249,0.07508 0.91786123853211009,0.08213876146788990 Region score:0.36; TSS score:0.39; Unmatched score:0.61; Average GERP:1.2422673267326734 GeneName:AC011481.3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000280087; TranscriptID:ENST00000623895; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:APOE; CADD-Score:7; Consquence:missense; GeneID:ENSG00000130203; TranscriptID:ENST00000252486; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003271 25961943 NONHSAT179793.1 rs7412 C N/A up to 62,166 european ancestry individuals EFO_0000319 N/A Associate Cholesterol//total rs7412-C of NONHSAT179793.1 is significantly associated with the cholesterol//total by using GWAS analysis in up to 62,166 european ancestry individuals(p-value = 8E-239 ;OR = 0.413). 0.4 The impact of low-frequency and rare variants on lipid levels. genome-wide association analysis NONHSAT179793.1 lncRNA Cardiovascular disease 0.69 CCTGCAGAAG(C > T)GCCTGGCAGT chr19: 44908822 0.9249,0.07508 0.91786123853211009,0.08213876146788990 Region score:0.36; TSS score:0.39; Unmatched score:0.61; Average GERP:1.2422673267326734 GeneName:AC011481.3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000280087; TranscriptID:ENST00000623895; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:APOE; CADD-Score:7; Consquence:missense; GeneID:ENSG00000130203; TranscriptID:ENST00000252486; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003271 27179730 NONHSAT179793.1 rs7412 ? N/A 883 european ancestry individuals with clinical and behavioral ideal cardiovascular health//10,825 european ancestry individuals without clinical and behavioral ideal cardiovascular health; 522 european ancestry individuals EFO_0000319 N/A Associate Ideal cardiovascular health (clinical and behavioural) rs7412-? of NONHSAT179793.1 is significantly associated with the ideal cardiovascular health (clinical and behavioural) by using GWAS analysis in 883 european ancestry individuals with clinical and behavioral ideal cardiovascular health//10,825 european ancestry individuals without clinical and behavioral ideal cardiovascular health; 522 european ancestry individuals(p-value = 9E-16 ;OR = ?). 0.4 Genetic loci associated with ideal cardiovascular health: A meta-analysis of genome-wide association studies. genome-wide association analysis NONHSAT179793.1 lncRNA Cardiovascular disease 0.69 CCTGCAGAAG(C > T)GCCTGGCAGT chr19: 44908822 0.9249,0.07508 0.91786123853211009,0.08213876146788990 Region score:0.36; TSS score:0.39; Unmatched score:0.61; Average GERP:1.2422673267326734 GeneName:AC011481.3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000280087; TranscriptID:ENST00000623895; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:APOE; CADD-Score:7; Consquence:missense; GeneID:ENSG00000130203; TranscriptID:ENST00000252486; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003271 28334899 NONHSAT179793.1 rs7412 T N/A 32,285 east asian ancestry individuals//173,082 european ancestry individuals; 8,478 chinese ancestry individuals EFO_0000319 N/A Associate Ldl cholesterol levels rs7412-T of NONHSAT179793.1 is significantly associated with the ldl cholesterol levels by using GWAS analysis in 32,285 east asian ancestry individuals//173,082 european ancestry individuals; 8,478 chinese ancestry individuals(p-value = 2E-286 ;OR = 0.59). 0.4 Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels. genome-wide association analysis NONHSAT179793.1 lncRNA Cardiovascular disease 0.69 CCTGCAGAAG(C > T)GCCTGGCAGT chr19: 44908822 0.9249,0.07508 0.91786123853211009,0.08213876146788990 Region score:0.36; TSS score:0.39; Unmatched score:0.61; Average GERP:1.2422673267326734 GeneName:AC011481.3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000280087; TranscriptID:ENST00000623895; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:APOE; CADD-Score:7; Consquence:missense; GeneID:ENSG00000130203; TranscriptID:ENST00000252486; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003271 28548082 NONHSAT179793.1 rs7412 T N/A up to 1,476 mylopotamos (founder/genetic isolate) individuals//up to 1,737 pomak (founder/genetic isolate) individuals EFO_0000319 N/A Associate Total cholesterol levels rs7412-T of NONHSAT179793.1 is significantly associated with the total cholesterol levels by using GWAS analysis in up to 1,476 mylopotamos (founder/genetic isolate) individuals//up to 1,737 pomak (founder/genetic isolate) individuals(p-value = 1E-8 ;OR = 0.27). 0.4 Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits. genome-wide association analysis NONHSAT179793.1 lncRNA Cardiovascular disease 0.69 CCTGCAGAAG(C > T)GCCTGGCAGT chr19: 44908822 0.9249,0.07508 0.91786123853211009,0.08213876146788990 Region score:0.36; TSS score:0.39; Unmatched score:0.61; Average GERP:1.2422673267326734 GeneName:AC011481.3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000280087; TranscriptID:ENST00000623895; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:APOE; CADD-Score:7; Consquence:missense; GeneID:ENSG00000130203; TranscriptID:ENST00000252486; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003271 23067351 NONHSAT179793.1 rs7412 ? N/A 1,249 african american individuals EFO_0000319 N/A Associate Ldl cholesterol rs7412-? of NONHSAT179793.1 is significantly associated with the ldl cholesterol by using GWAS analysis in 1,249 african american individuals(p-value = 2E-9 ;OR = 12.3). 0.4 High density GWAS for LDL cholesterol in African Americans using electronic medical records reveals a strong protective variant in APOE. genome-wide association analysis NONHSAT179793.1 lncRNA Cardiovascular disease 0.69 CCTGCAGAAG(C > T)GCCTGGCAGT chr19: 44908822 0.9249,0.07508 0.91786123853211009,0.08213876146788990 Region score:0.36; TSS score:0.39; Unmatched score:0.61; Average GERP:1.2422673267326734 GeneName:AC011481.3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000280087; TranscriptID:ENST00000623895; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:APOE; CADD-Score:7; Consquence:missense; GeneID:ENSG00000130203; TranscriptID:ENST00000252486; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003271 28753643 NONHSAT179793.1 rs7412 T N/A 22,156 european//asian//african//arabic//native american//pacific islander and other ancestry EFO_0000319 N/A Associate Lipoprotein phospholipase a2 activity in cardiovascular disease rs7412-T of NONHSAT179793.1 is significantly associated with the lipoprotein phospholipase a2 activity in cardiovascular disease by using GWAS analysis in 22,156 european//asian//african//arabic//native american//pacific islander and other ancestry(p-value = 8E-78 ;OR = 17.11). 0.4 Pharmacogenetic meta-analysis of baseline risk factors, pharmacodynamic, efficacy and tolerability endpoints from two large global cardiovascular outcomes trials for darapladib. genome-wide association analysis NONHSAT179793.1 lncRNA Cardiovascular disease 0.69 CCTGCAGAAG(C > T)GCCTGGCAGT chr19: 44908822 0.9249,0.07508 0.91786123853211009,0.08213876146788990 Region score:0.36; TSS score:0.39; Unmatched score:0.61; Average GERP:1.2422673267326734 GeneName:AC011481.3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000280087; TranscriptID:ENST00000623895; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:APOE; CADD-Score:7; Consquence:missense; GeneID:ENSG00000130203; TranscriptID:ENST00000252486; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003271 28371326 NONHSAT179793.1 rs7412 T N/A 862 han chinese ancestry cases//880 han chinese ancestry controls; 656 han chinese ancestry cases//933 han chinese ancestry controls EFO_0000319 N/A Associate Ldl cholesterol levels rs7412-T of NONHSAT179793.1 is significantly associated with the ldl cholesterol levels by using GWAS analysis in 862 han chinese ancestry cases//880 han chinese ancestry controls; 656 han chinese ancestry cases//933 han chinese ancestry controls(p-value = 7E-15 ;OR = 0.313). 0.4 Susceptibility loci for metabolic syndrome and metabolic components identified in Han Chinese: a multi-stage genome-wide association study. genome-wide association analysis NONHSAT179793.1 lncRNA Cardiovascular disease 0.69 CCTGCAGAAG(C > T)GCCTGGCAGT chr19: 44908822 0.9249,0.07508 0.91786123853211009,0.08213876146788990 Region score:0.36; TSS score:0.39; Unmatched score:0.61; Average GERP:1.2422673267326734 GeneName:AC011481.3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000280087; TranscriptID:ENST00000623895; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:APOE; CADD-Score:7; Consquence:missense; GeneID:ENSG00000130203; TranscriptID:ENST00000252486; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003271 28512139 NONHSAT179793.1 rs7412 T N/A 13,781 european ancestry individuals EFO_0000319 N/A Associate Lipoprotein (a) levels rs7412-T of NONHSAT179793.1 is significantly associated with the lipoprotein (a) levels by using GWAS analysis in 13,781 european ancestry individuals(p-value = 3E-10 ;OR = 3.34). 0.4 A genome-wide association meta-analysis on lipoprotein (a) concentrations adjusted for apolipoprotein (a) isoforms. genome-wide association analysis NONHSAT179793.1 lncRNA Cardiovascular disease 0.69 CCTGCAGAAG(C > T)GCCTGGCAGT chr19: 44908822 0.9249,0.07508 0.91786123853211009,0.08213876146788990 Region score:0.36; TSS score:0.39; Unmatched score:0.61; Average GERP:1.2422673267326734 GeneName:AC011481.3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000280087; TranscriptID:ENST00000623895; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:APOE; CADD-Score:7; Consquence:missense; GeneID:ENSG00000130203; TranscriptID:ENST00000252486; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003272 24963161 NONHSAT151562.1 rs17103186 C N/A 3,178 chinese ancestry individuals//2,138 malay ancestry individuals//2,124 asian indian ancestry individuals; 2,473 chinese ancestry individuals//2,747 japanese ancestry individuals EFO_0004345 N/A Associate Corneal curvature rs17103186-C of NONHSAT151562.1 is significantly associated with the corneal curvature by using GWAS analysis in 3,178 chinese ancestry individuals//2,138 malay ancestry individuals//2,124 asian indian ancestry individuals; 2,473 chinese ancestry individuals//2,747 japanese ancestry individuals(p-value = 3E-12 ;OR = 0.11). 0.4 CMPK1 and RBP3 are associated with corneal curvature in Asian populations. genome-wide association analysis NONHSAT151562.1 lncRNA Corneal topography 0.33 AGAGATAGTC(C > T)GGGGTAGGTG chr1: 47388842 0.9273,0.07268 0.97018348623853211,0.02981651376146788 Region score:0.45; TSS score:0.37; Unmatched score:0.4; Average GERP:-0.1015871287128713 GeneName:LINC01389; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000225762; TranscriptID:ENST00000420876; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000251671; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000356605; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003273 25231870 NONHSAT170398.1 rs7141210 T N/A up to 182,413 european ancestry females EFO_0004703 N/A Associate Menarche (age at onset) rs7141210-T of NONHSAT170398.1 is significantly associated with the menarche (age at onset) by using GWAS analysis in up to 182,413 european ancestry females(p-value = 6E-9 ;OR = 0.03). 0.4 Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. genome-wide association analysis NONHSAT170398.1 lncRNA Age at menarche 0.33 TTTCTTGGAG(T > C)CTGGGATTCC chr14: 100716133 0.5483,0.4517 0.45592029816513761,0.54407970183486238 Region score:0.34; TSS score:0.51; Unmatched score:0.3; Average GERP:-1.1507782178217825 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003274 24978643 MIR146A rs2910164 G recessive 350 ESRD patients and 350 age-matched, sex-matched, and ethnically matched controls. EFO_0003884 N/A increasing risk chronic kidney disease rs2910164-G of hsa-mir-146a and its dysfunction is significantly associated with the increasing risk of Chronic kidney disease by using case-control analysis in 350 ESRD patients and 350 age-matched, sex-matched, and ethnically matched controls. 0.4 Genetic variants of MicroRNA-related genes in susceptibility and prognosis of end-stage renal disease and renal allograft outcome among north Indians. case-control analysis hsa-mir-146a miRNA Chronic kidney disease 0.33 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 0 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003275 27863252 NONHSAT204675.1 rs3812049 G N/A 171,643 european ancestry individuals EFO_0004587 N/A Associate Lymphocyte counts rs3812049-G of NONHSAT204675.1 is significantly associated with the lymphocyte counts by using GWAS analysis in 171,643 european ancestry individuals(p-value = 1E-9 ;OR = 0.02515204). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT204675.1 lncRNA Lymphocyte count 0.33 TTCACCAAAG(C > A,G,T)GGGGGGAAAA chr5: 128083158 0.2388,.,0.7612,. 0.22860919979612640,0.00050968399592252,0.76357830020387359,0.00730281600407747 Region score:0.47; TSS score:0.46; Unmatched score:0.97; Average GERP:0.5216738613861385 GeneName:LINC01184; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000245937; TranscriptID:ENST00000501702; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000186556; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SLC12A2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000064651; TranscriptID:ENST00000262461; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003276 27989323 NONHSAT089391.2 rs62243190 C N/A 8,243 finnish ancestry individuals EFO_0005140 N/A Associate Macrophage inflammatory protein 1b levels rs62243190-C of NONHSAT089391.2 is significantly associated with the macrophage inflammatory protein 1b levels by using GWAS analysis in 8,243 finnish ancestry individuals(p-value = 4E-29 ;OR = 0.4572). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. genome-wide association analysis NONHSAT089391.2 lncRNA Autoimmune disease 0.33 GTCAGGAGTT(C > T)GAGACCAGCC chr3: 45483446 0.9972,0.002796 0.99622515290519877,0.00377484709480122 Region score:0.27; TSS score:0.08; Unmatched score:0.05; Average GERP:-0.2095980198019801 GeneName:LARS2-AS1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000232455; TranscriptID:ENST00000442534; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LARS2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000011376; TranscriptID:ENST00000415258; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003277 25778476 NONHSAT209123.1 rs1129187 T N/A 10,352 cases//9,207 controls; 1,250 european ancestry cases//536 european ancestry controls EFO_0000249 N/A Associate Alzheimer's disease in apoe e4+ carriers rs1129187-T of NONHSAT209123.1 is significantly associated with the alzheimer's disease in apoe e4+ carriers by using GWAS analysis in 10,352 cases//9,207 controls; 1,250 european ancestry cases//536 european ancestry controls(p-value = 7E-6 ;OR = 1.13). 0.4 A novel Alzheimer disease locus located near the gene encoding tau protein. genome-wide association analysis NONHSAT209123.1 lncRNA Alzheimers disease 0.33 TGAGCTACCT(G > C,T)GCTCCAGCCC chr6: 42964462 0.6685,.,0.3315 0.60813264525993883,.,0.39186735474006116 Region score:0.37; TSS score:0.53; Unmatched score:0.73; Average GERP:1.7792782178217827 GeneName:GNMT; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000124713; TranscriptID:ENST00000372808; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000790939; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PEX6; CADD-Score:7; Consquence:missense; GeneID:ENSG00000124587; TranscriptID:ENST00000304611; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003278 29059683 NONHSAT097630.2 rs10016947 C N/A 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls EFO_0000305 N/A Associate Breast cancer rs10016947-C of NONHSAT097630.2 is significantly associated with the breast cancer by using GWAS analysis in 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls(p-value = 9E-6 ;OR = 0.0611). 0.4 Association analysis identifies 65 new breast cancer risk loci. genome-wide association analysis NONHSAT097630.2 lncRNA Breast cancer 0.33 TGTATATTTT(T > C)ATTAACTCCA chr4: 103450498 0.8882,0.1118 0.86909881498470948,0.13090118501529051 Region score:0.3; TSS score:0.11; Unmatched score:0.12; Average GERP:0.042376237623762435 GeneName:LINC02428; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000248740; TranscriptID:ENST00000513793; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003279 26634245 NONHSAT201292.1 rs114681481 T N/A 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases EFO_0003892 N/A Associate Post bronchodilator fev1 in copd rs114681481-T of NONHSAT201292.1 is significantly associated with the post bronchodilator fev1 in copd by using GWAS analysis in 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases(p-value = 3E-6 ;OR = 0.664). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT201292.1 lncRNA Pulmonary function measurement 0.33 TCACTGCAGC(C > T)TCTATCTGGC chr4: 66464543 0.997,0.002995 0.99737194189602446,0.00262805810397553 Region score:0.29; TSS score:0.1; Unmatched score:0; Average GERP:-0.1187029702970296 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003280 23251661 NONHSAT155419.1 rs28461806 G N/A 815 hispanic children from 263 families EFO_0004626 N/A Associate Obesity-related traits rs28461806-G of NONHSAT155419.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 2E-6 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. genome-wide association analysis NONHSAT155419.1 lncRNA Igfbp-3 measurement 0.33 CTGCTGCTCC(T > C)TCCTCTCCAC chr10: 43260306 N/A 0.99996018093781855,0.00003981906218144 Region score:0.21; TSS score:0.33; Unmatched score:0.29; Average GERP:-0.47458247524752445 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000401878; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RASGEF1A; CADD-Score:2; Consquence:intron; GeneID:ENSG00000198915; TranscriptID:ENST00000395810; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003281 22968431 NONHSAT088006.2 rs17036170 ? N/A 783 european ancestry cases//3,001 european ancestry controls; 307 european ancestry cases//2,587 european ancestry controls EFO_0004228 N/A Associate Drug-induced liver injury rs17036170-? of NONHSAT088006.2 is significantly associated with the drug-induced liver injury by using GWAS analysis in 783 european ancestry cases//3,001 european ancestry controls; 307 european ancestry cases//2,587 european ancestry controls(p-value = 2E-8 ;OR = 11.3). 0.4 Limited contribution of common genetic variants to risk for liver injury due to a variety of drugs. genome-wide association analysis NONHSAT088006.2 lncRNA Drug-induced liver injury 0.33 AGAGGCAGCA(G > A)AGGTTAACAG chr3: 12288912 0.9944,0.005591 0.99031600407747196,0.00968399592252803 Region score:0.49; TSS score:0.67; Unmatched score:0.95; Average GERP:-1.9775445544554466 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000148607; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PPARG; CADD-Score:3; Consquence:5_prime_UTR; GeneID:ENSG00000132170; TranscriptID:ENST00000397012; AnnoType:5PRIME_UTR; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003282 21647738 NONHSAT007009.2 rs876537 C N/A 1,709 filipino ancestry female individuals EFO_0000195 N/A Associate C-reactive protein rs876537-C of NONHSAT007009.2 is significantly associated with the c-reactive protein by using GWAS analysis in 1,709 filipino ancestry female individuals(p-value = 1E-9 ;OR = 0.288). 0.4 Genome-wide association with C-reactive protein levels in CLHNS: evidence for the CRP and HNF1A loci and their interaction with exposure to a pathogenic environment. genome-wide association analysis NONHSAT007009.2 lncRNA Metabolic syndrome 0.33 CAAAGTCCCA(C > T)ATGTTCACAT chr1: 159705143 0.6458,0.3542 0.65479262232415902,0.34520737767584097 Region score:0.55; TSS score:0.54; Unmatched score:0.61; Average GERP:0.6897435643564357 GeneName:CRPP1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000223603; TranscriptID:ENST00000412857; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003283 28928442 NONHSAT106563.2 rs79224643 ? N/A 1,425 european ancestry cases//218,180 european ancestry controls EFO_0008405 N/A Associate Hepatitis b rs79224643-? of NONHSAT106563.2 is significantly associated with the hepatitis b by using GWAS analysis in 1,425 european ancestry cases//218,180 european ancestry controls(p-value = 8E-6 ;OR = 0.9663). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. genome-wide association analysis NONHSAT106563.2 lncRNA Susceptibility to hepatitis b infection measurement 0.33 TTAAATTTAG(G > T)TTTTTTGATG chr6: 1931664 0.9956,0.004393 0.99409881498470948,0.00590118501529051 Region score:0.42; TSS score:0.15; Unmatched score:0.29; Average GERP:-0.7852198019801979 GeneName:GMDS; CADD-Score:2; Consquence:intron; GeneID:ENSG00000112699; TranscriptID:ENST00000380815; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003284 21383967 NONHSAT217631.1 rs975730 ? N/A 4,533 european ancestry celiac disease cases//5,539 european ancestry rheumatoid arthritis cases//27,981 european ancestry controls; 2,169 european ancestry celiac disease cases//2,845 european ancestry rheumatoid arthritis cases//7,199 european ancestry controls EFO_0000540 N/A Associate Celiac disease or rheumatoid arthritis rs975730-? of NONHSAT217631.1 is significantly associated with the celiac disease or rheumatoid arthritis by using GWAS analysis in 4,533 european ancestry celiac disease cases//5,539 european ancestry rheumatoid arthritis cases//27,981 european ancestry controls; 2,169 european ancestry celiac disease cases//2,845 european ancestry rheumatoid arthritis cases//7,199 european ancestry controls(p-value = 2E-8 ;OR = ?). 0.4 Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci. genome-wide association analysis NONHSAT217631.1 lncRNA Immune system disease 0.33 TTAGAAATAT(G > A)AACGGACCAC chr8: 128303768 0.4617,0.5383 0.52310301987767584,0.47689698012232415 Region score:0.36; TSS score:0.17; Unmatched score:0.05; Average GERP:-0.3490623762376238 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003285 28397307 miR-4513 rs2168518 A Dominant 16,144 advanced amd cases and 17,832 controls EFO_0001365 N/A Increasing risk Age-related macular degeneration rs2168518-A of miR-4513 and its dysfunction is significantly associated with the increasing risk of age-related macular degeneration by using case-control analysis in 16,144 advanced AMD cases and 17,832 controls. 0.4 Genetic variants in microRNAs and their binding sites within gene 3'UTRs associate with susceptibility to age-related macular degeneration. case-control analysis hsa-mir-4513 miRNA Age-related macular degeneration 0.33 GCCTCCAGCC(G > A)TCAGTCTCCC chr15: 74788737 0.7554,0.2446 0.57552083333333333,0.42447916666666666 Region score:0.44; TSS score:0.5; Unmatched score:0.72; Average GERP:-0.038679207920792144 GeneName:CSK; CADD-Score:2; Consquence:intron; GeneID:ENSG00000103653; TranscriptID:ENST00000220003; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR4513; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000264386; TranscriptID:ENST00000581077; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000079299; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000521422; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003286 28604730 NONHSAT130430.2 rs62560775 G N/A 29,266 european ancestry cases//56,450 european ancestry controls EFO_0001071 N/A Associate Lung cancer rs62560775-G of NONHSAT130430.2 is significantly associated with the lung cancer by using GWAS analysis in 29,266 european ancestry cases//56,450 european ancestry controls(p-value = 6E-7 ;OR = 1.1056006). 0.4 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. genome-wide association analysis NONHSAT130430.2 lncRNA Lung cancer 0.33 GAAACTCCAC(A > G)TTCTCATTTC chr9: 22052069 0.8347,0.1653 0.87561321355759429,0.12438678644240570 Region score:0.37; TSS score:0.26; Unmatched score:0.29; Average GERP:0.1960583861386139 GeneName:CDKN2B-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000240498; TranscriptID:ENST00000428597; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003287 26152337 hsa-mir-646 rs6513496 C N/a 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs6513496-C of hsa-mir-646 and its dysfunction is not significantly associated with hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors. -0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. case-control analysis hsa-mir-646 miRNA Hepatocellular cancer -0.33 AGCCTGGAGA(T > C)CAGGAGTCTG chr20: 60308476 0.7272,0.2728 0.72441227064220183,0.27558772935779816 Region score:0.31; TSS score:0.19; Unmatched score:0.44; Average GERP:-1.8598564356435638 GeneName:MIR646; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207802; TranscriptID:ENST00000385067; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR646HG; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000228340; TranscriptID:ENST00000432910; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003288 28195142 NONHSAT076862.2 rs11693806 C N/A 2,637 european ancestry cases//364 non-array typed//familial imputed icelandic ancestry cases//134,811 european ancestry controls//152,739 non-array typed//familial imputed icelandic ancestry controls. EFO_0002892 N/A Associate Thyroid cancer rs11693806-C of NONHSAT076862.2 is significantly associated with the thyroid cancer by using GWAS analysis in 2,637 european ancestry cases//364 non-array typed//familial imputed icelandic ancestry cases//134,811 european ancestry controls//152,739 non-array typed//familial imputed icelandic ancestry controls.(p-value = 2E-24 ;OR = 1.43). 0.4 A genome-wide association study yields five novel thyroid cancer risk loci. genome-wide association analysis NONHSAT076862.2 lncRNA Thyroid cancer 0.33 TTCTCCCTCA(C > G)GAATGTCTGG chr2: 217427435 0.4984,0.5016 0.36813519367991845,0.63186480632008154 Region score:0.23; TSS score:0.34; Unmatched score:0.46; Average GERP:1.4573455445544554 GeneName:DIRC3; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000231672; TranscriptID:ENST00000474063; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003289 27863252 NONHSAT175610.1 rs8079549 T N/A 171,542 european ancestry individuals EFO_0007990 N/A Associate Neutrophil percentage of white cells rs8079549-T of NONHSAT175610.1 is significantly associated with the neutrophil percentage of white cells by using GWAS analysis in 171,542 european ancestry individuals(p-value = 1E-9 ;OR = 0.02218288). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT175610.1 lncRNA Neutrophil percentage of leukocytes 0.33 CTGCCTGCCT(G > T)CCTTCCTTCT chr17: 75070887 0.2969,0.7031 0.39919406218144750,0.60080593781855249 Region score:0.13; TSS score:0.22; Unmatched score:0.16; Average GERP:0.08744444444444445 GeneName:KCTD2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180901; TranscriptID:ENST00000375286; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TRIM80P; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000232724; TranscriptID:ENST00000455685; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003290 25673413 NONHSAT049678.2 rs1439620 A N/A up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals EFO_0001073 N/A Associate Body mass index rs1439620-A of NONHSAT049678.2 is significantly associated with the body mass index by using GWAS analysis in up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals(p-value = 2E-6 ;OR = 0.016). 0.4 Genetic studies of body mass index yield new insights for obesity biology. genome-wide association analysis NONHSAT049678.2 lncRNA Obesity 0.33 AAACACTTCT(A > G)TTACTATCAA chr15: 92886416 0.3071,0.6929 0.33612863149847094,0.66387136850152905 Region score:0.35; TSS score:0.22; Unmatched score:0.67; Average GERP:-0.5677756000000003 GeneName:AC013394.1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000279765; TranscriptID:ENST00000629685; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LINC01578; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000272888; TranscriptID:ENST00000557682; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000081329; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003291 28334935 NONHSAT108210.2 rs1799945 C N/A 12,580 hispanic/latino individuals EFO_0006332 N/A Associate Iron status biomarkers (iron levels) rs1799945-C of NONHSAT108210.2 is significantly associated with the iron status biomarkers (iron levels) by using GWAS analysis in 12,580 hispanic/latino individuals(p-value = 4E-26 ;OR = 0.365). 0.4 Genome-wide association study of iron traits and relation to diabetes in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL): potential genomic intersection of iron and glucose regulation? genome-wide association analysis NONHSAT108210.2 lncRNA Serum iron measurement 0.33 GTTCTATGAT(C > G)ATGAGAGTCG chr6: 26090951 0.9269,0.07308 0.89884365443425076,0.10115634556574923 Region score:0.3; TSS score:0.25; Unmatched score:0.49; Average GERP:0.6539455445544557 GeneName:HFE; CADD-Score:7; Consquence:missense; GeneID:ENSG00000010704; TranscriptID:ENST00000357618; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003292 27846195 NONHSAT033481.2 rs191581512 G N/A 1,390 european ancestry cases EFO_0000692 paliperidone Associate Response to paliperidone in schizophrenia (negative marder score) rs191581512-G of NONHSAT033481.2 is significantly associated with the response to paliperidone in schizophrenia (negative marder score) by using GWAS analysis in 1,390 european ancestry cases(p-value = 2E-6 ;OR = 4.7236). 0.4 Genome-wide association study of paliperidone efficacy. genome-wide association analysis NONHSAT033481.2 lncRNA Schizophrenia 0.33 CACACTGCAG(G > T)GGAAAGAGGC chr13: 44105194 0.9988,0.001198 0.99788958970438328,0.00211041029561671 Region score:0.29; TSS score:0.54; Unmatched score:0.37; Average GERP:-1.0671316831683173 GeneName:LINC00390; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000226519; TranscriptID:ENST00000432331; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000480381; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003293 27758888 MIR2052HG rs4476990 ? dominant Only North American patients were offered participation in collection of blood specimens and 5221 of 6827 (76.5%) of the North American patients contributed blood EFO_0000305 anastrozole; exemestane better prognosis breast carcinoma rs4476990-? of hsa-mir-2052 and its dysfunction is significantly associated with the better prognosis of Breast carcinoma by using genome-wide association analysis in Only North American patients were offered participation in collection of blood specimens and 5221 of 6827 (76.5%) of the North American patients contributed blood 1.4 Genetic Polymorphisms in the Long Noncoding RNA MIR2052HG Offer a Pharmacogenomic Basis for the Response of Breast Cancer Patients to Aromatase Inhibitor Therapy. genome-wide association analysis hsa-mir-2052 miRNA Breast carcinoma 0.753 AGGCTGCTCT(T > A,C,G)GAACTCCTGA chr8: 74566177 0.3486,.,0.6514,. 0.31586869266055045,0.00264398572884811,0.68148732161060142,. Region score:0.21; TSS score:0.14; Unmatched score:0.01; Average GERP:0.12460396039603938 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003294 22778062 SNORD115-20 rs7176931 G N/a N/a function N/A Not significant changes in the structure Function rs7176931-G of SNORD115-20 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD115-20 snoRNA Function -0.049 ATCATGCTCA(A > G)TAGGATTATG chr15: 25206324 0.9219,0.07808 0.93022903924566768,0.06977096075433231 Region score:0.36; TSS score:0.09; Unmatched score:0.52; Average GERP:-0.27342475247524756 GeneName:SNHG14; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000224078; TranscriptID:ENST00000424333; AnnoType:INTRONIC; mirSVR-Score:-0.0600; mirSVR-E:-12.00 | GeneName:SNORD115-17; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000201482; TranscriptID:ENST00000364612; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0600; mirSVR-E:-12.00 | GeneName:SNORD115-18; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000200163; TranscriptID:ENST00000363293; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0600; mirSVR-E:-12.00 | GeneName:SNORD115-19; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000199968; TranscriptID:ENST00000363098; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0600; mirSVR-E:-12.00 | GeneName:SNORD115-20; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000201969; TranscriptID:ENST00000365099; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0600; mirSVR-E:-12.00 | GeneName:SNORD115-21; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000199833; TranscriptID:ENST00000362963; AnnoType:UPSTREAM; mirSVR-Score:-0.0600; mirSVR-E:-12.00 | GeneName:SNORD115-22; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000201326; TranscriptID:ENST00000364456; AnnoType:UPSTREAM; mirSVR-Score:-0.0600; mirSVR-E:-12.00 | NCRV0000003295 21106707 NONHSAT177882.1 rs8093763 A N/A 673 european ancestry individuals; 834 european ancestry individuals EFO_0007592 N/A Associate Response to bleomycin (chromatid breaks) rs8093763-A of NONHSAT177882.1 is significantly associated with the response to bleomycin (chromatid breaks) by using GWAS analysis in 673 european ancestry individuals; 834 european ancestry individuals(p-value = 3E-8 ;OR = 0.18). 0.4 A genetic variant near the PMAIP1/Noxa gene is associated with increased bleomycin sensitivity. genome-wide association analysis NONHSAT177882.1 lncRNA Response to bleomycin 0.33 TGGGCCTCAA(G > A)TCAGGGCACA chr18: 59836146 0.6903,0.3097 0.70874745158002038,0.29125254841997961 Region score:0.3; TSS score:0.6; Unmatched score:0.42; Average GERP:-0.6815054455445543 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000577846; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000577847; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003296 27182965 NONHSAT200063.1 rs7659874 ? N/A 33,790 european ancestry individuals EFO_0004884 N/A Associate Breast size rs7659874-? of NONHSAT200063.1 is significantly associated with the breast size by using GWAS analysis in 33,790 european ancestry individuals(p-value = 9E-13 ;OR = 0.105). 0.4 Detection and interpretation of shared genetic influences on 42 human traits. genome-wide association analysis NONHSAT200063.1 lncRNA Breast size 0.33 GAGTGAAAAC(A > G)GGATGACTGA chr4: 74621799 0.6124,0.3876 0.68139175586136595,0.31860824413863404 Region score:0.28; TSS score:0.39; Unmatched score:0.2; Average GERP:-0.3562049504950495 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000726825; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003297 23251661 NONHSAT161055.1 rs10833583 A N/A 815 hispanic children from 263 families EFO_0005118 N/A Associate Obesity-related traits rs10833583-A of NONHSAT161055.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 7E-6 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. genome-wide association analysis NONHSAT161055.1 lncRNA Igfbp-1 measurement 0.33 TAATGCATCA(G > A)TATTAAAAGC chr11: 21647747 0.9077,0.09225 0.90879841997961264,0.09120158002038735 Region score:0.26; TSS score:0.12; Unmatched score:0.02; Average GERP:-0.3489514851485148 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003298 28181694 NONHSAT149780.1 rs10888574 G N/A 488 european ancestry female children//445 european ancestry male children; 245 european ancestry female children//241 european ancestry male children EFO_0007621 N/A Associate Pediatric bone mineral content (hip) rs10888574-G of NONHSAT149780.1 is significantly associated with the pediatric bone mineral content (hip) by using GWAS analysis in 488 european ancestry female children//445 european ancestry male children; 245 european ancestry female children//241 european ancestry male children(p-value = 8E-11 ;OR = 0.263931). 0.4 A Genomewide Association Study Identifies Two Sex-Specific Loci, at SPTB and IZUMO3, Influencing Pediatric Bone Mineral Density at Multiple Skeletal Sites. genome-wide association analysis NONHSAT149780.1 lncRNA Bone mineral content measurement 0.33 ACAGGCACCC(A > G)CCACCACGCC chr1: 150191796 0.6288,0.3712 0.71698203363914373,0.28301796636085626 Region score:0.21; TSS score:0.17; Unmatched score:0.07; Average GERP:0.0204949494949495 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000372351; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003299 28613276 NONHSAT112236.2 rs236349 G N/A 27,850 european ancestry individuals; 24,125 european ancestry individuals//11,234 hispanic/latino individuals//6,899 african american individuals MONDO_0000992 N/A Associate Heart rate variability traits (pvrsa/hf) rs236349-G of NONHSAT112236.2 is significantly associated with the heart rate variability traits (pvrsa/hf) by using GWAS analysis in 27,850 european ancestry individuals; 24,125 european ancestry individuals//11,234 hispanic/latino individuals//6,899 african american individuals(p-value = 3E-15 ;OR = 0.068785). 0.4 Genetic loci associated with heart rate variability and their effects on cardiac disease risk. genome-wide association analysis NONHSAT112236.2 lncRNA Heart conduction disease 0.33 TCCAGGAGGC(A > G)TAAGATTGGT chr6: 36852789 0.345,0.655 0.32011340468909276,0.67988659531090723 Region score:0.4; TSS score:0.26; Unmatched score:0.27; Average GERP:0.11659207920792072 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000320472; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PPIL1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000137168; TranscriptID:ENST00000373699; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003300 28928442 NONHSAT141812.2 rs11642862 ? N/A 60,098 european ancestry cases//113,323 european ancestry controls EFO_0007924 N/A Associate Tonsillectomy rs11642862-? of NONHSAT141812.2 is significantly associated with the tonsillectomy by using GWAS analysis in 60,098 european ancestry cases//113,323 european ancestry controls(p-value = 2E-6 ;OR = 0.0617). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. genome-wide association analysis NONHSAT141812.2 lncRNA Tonsillectomy risk measurement 0.33 TCCCTGCCTA(C > T)TGGCTCACAA chr16: 30774503 0.9435,0.05651 0.91017615953109072,0.08982384046890927 Region score:0.5; TSS score:0.81; Unmatched score:0.77; Average GERP:-0.265830693069307 GeneName:AC106886.4; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000280211; TranscriptID:ENST00000623557; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.1479; mirSVR-E:-25.46 | GeneName:RNF40; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000103549; TranscriptID:ENST00000324685; AnnoType:3PRIME_UTR; mirSVR-Score:-0.1479; mirSVR-E:-25.46 | GeneName:ZNF629; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000102870; TranscriptID:ENST00000262525; AnnoType:DOWNSTREAM; mirSVR-Score:-0.1479; mirSVR-E:-25.46 | NCRV0000003301 23104005 NONHSAT129017.2 rs188140481 A N/A 5,141 european ancestry cases//54,444 european ancestry controls; up to 5,470 european ancestry cases//up to 7,583 european ancestry controls EFO_0001663 N/A Associate Prostate cancer rs188140481-A of NONHSAT129017.2 is significantly associated with the prostate cancer by using GWAS analysis in 5,141 european ancestry cases//54,444 european ancestry controls; up to 5,470 european ancestry cases//up to 7,583 european ancestry controls(p-value = 6E-34 ;OR = 2.9). 0.4 A study based on whole-genome sequencing yields a rare variant at 8q24 associated with prostate cancer. genome-wide association analysis NONHSAT129017.2 lncRNA Prostate cancer 0.33 ATATAAAATA(T > A,C)ACGAAACAAA chr8: 127179427 0.9978,0.002196,. 0.99673483690112130,0.00325719928644240,0.00000796381243628 Region score:0.5; TSS score:0.44; Unmatched score:0.24; Average GERP:-0.7563712871287129 GeneName:CASC19; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000254166; TranscriptID:ENST00000641934; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000869275; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PCAT1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000253438; TranscriptID:ENST00000646670; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003302 24816252 NONHSAT209556.1 rs6901004 C N/A 7,824 european ancestry individuals EFO_0005664 N/A Associate Blood metabolite levels rs6901004-C of NONHSAT209556.1 is significantly associated with the blood metabolite levels by using GWAS analysis in 7,824 european ancestry individuals(p-value = 1E-11 ;OR = 0.006). 0.4 An atlas of genetic influences on human blood metabolites. genome-wide association analysis NONHSAT209556.1 lncRNA Blood metabolite measurement 0.33 ATTATCTACA(C > G)TATTTGGTAC chr6: 111233619 0.5351,0.4649 0.52937850407747196,0.47062149592252803 Region score:0.39; TSS score:0.07; Unmatched score:0.04; Average GERP:0.08242574257425742 GeneName:AL360227.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000231046; TranscriptID:ENST00000425364; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SLC16A10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000112394; TranscriptID:ENST00000368850; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003303 27622933 NONHSAT196346.1 rs142484554 ? N/A 2,963 european ancestry responder cases//2,005 european ancestry non-responder cases EFO_0003761 N/A Associate Response to citalopram or escitalopram in depression rs142484554-? of NONHSAT196346.1 is significantly associated with the response to citalopram or escitalopram in depression by using GWAS analysis in 2,963 european ancestry responder cases//2,005 european ancestry non-responder cases(p-value = 3E-7 ;OR = 1.459854). 0.4 Analysis of 23andMe antidepressant efficacy survey data: implication of circadian rhythm and neuroplasticity in bupropion response. genome-wide association analysis NONHSAT196346.1 lncRNA Unipolar depression 0.33 GCAGAAGGTG(AAGG > A)AGGAGGAGAA chr3: 141059453 0.9455,0.05451 0.89850121049949031,0.10149878950050968 N/A GeneName:SPSB4; CADD-Score:2; Consquence:intron; GeneID:ENSG00000175093; TranscriptID:ENST00000310546; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003304 27015805 NONHSAT150790.1 rs553626126 ? N/A 45,627 middle-aged british individuals EFO_0007796 N/A Associate Parental longevity (combined parental age at death) rs553626126-? of NONHSAT150790.1 is significantly associated with the parental longevity (combined parental age at death) by using GWAS analysis in 45,627 middle-aged british individuals(p-value = 9E-6 ;OR = 0.176503). 0.4 Human longevity is influenced by many genetic variants: evidence from 75,000 UK Biobank participants. genome-wide association analysis NONHSAT150790.1 lncRNA Parental longevity 0.33 CCATGGGCTC(C > T)CTGGCCTCTC chr1: 234778947 0.9958,0.004193 0.99310333843017329,0.00689666156982670 N/A GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003305 27863252 NONHSAT003744.2 rs1892534 T N/A 169,219 european ancestry individuals EFO_0007988 N/A Associate Myeloid white cell count rs1892534-T of NONHSAT003744.2 is significantly associated with the myeloid white cell count by using GWAS analysis in 169,219 european ancestry individuals(p-value = 8E-36 ;OR = 0.04634622). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT003744.2 lncRNA Myeloid white cell count 0.33 GCTGATGGAT(C > T)AAGACATACT chr1: 65640261 0.4661,0.5339 0.55370795107033639,0.44629204892966360 Region score:0.29; TSS score:0.71; Unmatched score:0.7; Average GERP:-1.211846534653465 GeneName:LEPR; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000116678; TranscriptID:ENST00000349533; AnnoType:3PRIME_UTR; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003306 27863252 NONHSAT008671.2 rs1434282 T N/A 172,433 european ancestry individuals EFO_0004526 N/A Associate Mean corpuscular volume rs1434282-T of NONHSAT008671.2 is significantly associated with the mean corpuscular volume by using GWAS analysis in 172,433 european ancestry individuals(p-value = 1E-39 ;OR = 0.05252996). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT008671.2 lncRNA Mean corpuscular volume 0.33 TCCCAAGAGA(C > T)GTTATCAGTC chr1: 199041592 0.219,0.781 0.23566513761467889,0.76433486238532110 Region score:0.7; TSS score:0.66; Unmatched score:0.73; Average GERP:2.7453069306930686 GeneName:LINC01221; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000235492; TranscriptID:ENST00000432488; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003307 27989323 NONHSAT197521.1 rs2712431 C N/A 8,293 finnish ancestry individuals EFO_0005140 N/A Associate Monocyte chemoattractant protein-1 levels rs2712431-C of NONHSAT197521.1 is significantly associated with the monocyte chemoattractant protein-1 levels by using GWAS analysis in 8,293 finnish ancestry individuals(p-value = 5E-6 ;OR = 0.0787). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. genome-wide association analysis NONHSAT197521.1 lncRNA Autoimmune disease 0.33 AGCCCTCCAG(C > A,G)GAGCTTTGTC chr3: 128598047 0.2865,0.7135,. 0.30495030581039755,0.69471521406727828,0.00033448012232415 Region score:0.35; TSS score:0.25; Unmatched score:0.12; Average GERP:-0.1386534653465347 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003308 22778062 SNORA81 rs73063489 T N/A N/A function N/A not significant changes in the structure function rs73063489-T of SNORA81 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in nan -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORA81 snoRNA function -0.049 TGCAATAATG(C > T)TAGCAGAGTA chr3: 186786743 0.9984,0.001597 0.99955402650356778,0.00044597349643221 Region score:0.47; TSS score:0.4; Unmatched score:0.7; Average GERP:3.430659405940595 GeneName:AC112907.3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000263826; TranscriptID:ENST00000577781; AnnoType:UPSTREAM; mirSVR-Score:-1.2763; mirSVR-E:-11.98 | GeneName:EIF4A2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000156976; TranscriptID:ENST00000323963; AnnoType:INTRONIC; mirSVR-Score:-1.2763; mirSVR-E:-11.98 | GeneName:MIR1248; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000283958; TranscriptID:ENST00000629190; AnnoType:NONCODING_CHANGE; mirSVR-Score:-1.2763; mirSVR-E:-11.98 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000711728; AnnoType:REGULATORY; mirSVR-Score:-1.2763; mirSVR-E:-11.98 | GeneName:RFC4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000163918; TranscriptID:ENST00000392481; AnnoType:DOWNSTREAM; mirSVR-Score:-1.2763; mirSVR-E:-11.98 | GeneName:SNORA4; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000263776; TranscriptID:ENST00000584302; AnnoType:UPSTREAM; mirSVR-Score:-1.2763; mirSVR-E:-11.98 | GeneName:SNORA63B; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000200418; TranscriptID:ENST00000363548; AnnoType:DOWNSTREAM; mirSVR-Score:-1.2763; mirSVR-E:-11.98 | GeneName:SNORA63; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000200320; TranscriptID:ENST00000363450; AnnoType:UPSTREAM; mirSVR-Score:-1.2763; mirSVR-E:-11.98 | GeneName:SNORA81; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000221420; TranscriptID:ENST00000408493; AnnoType:NONCODING_CHANGE; mirSVR-Score:-1.2763; mirSVR-E:-11.98 | GeneName:SNORD2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000238942; TranscriptID:ENST00000459163; AnnoType:DOWNSTREAM; mirSVR-Score:-1.2763; mirSVR-E:-11.98 | NCRV0000003309 28448500 NONHSAT121628.2 rs2245368 C N/A 561 african american women//352 filipino ancestry women//725 indian ancestry women//19,366 european ancestry women//251 african american men//4,654 indian ancestry men//11,727 european ancestry men//959 european ancestry individuals; 1,437 african american women//5,184 european ancestry women//64 african american men//5,416 european ancestry men EFO_0001073 joint analysis main effects and smoking interaction Associate Body mass index in physically inactive individuals rs2245368-C of NONHSAT121628.2 is significantly associated with the body mass index in physically inactive individuals by using GWAS analysis in 561 african american women//352 filipino ancestry women//725 indian ancestry women//19,366 european ancestry women//251 african american men//4,654 indian ancestry men//11,727 european ancestry men//959 european ancestry individuals; 1,437 african american women//5,184 european ancestry women//64 african american men//5,416 european ancestry men(p-value = 6E-6 ;OR = 0.0586). 0.4 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. genome-wide association analysis NONHSAT121628.2 lncRNA Obesity 0.565 CCCTCGCTGG(C > T)CCGTTACATT chr7: 76978826 0.3387,0.6613 0.21696610601427115,0.78303389398572884 Region score:0.43; TSS score:0.34; Unmatched score:0.68; Average GERP:1.0656138613861392 GeneName:AC114737.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000225703; TranscriptID:ENST00000434531; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC114737.3; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000283398; TranscriptID:ENST00000636708; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:DTX2P1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000186704; TranscriptID:ENST00000425797; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:DTX2P1-UPK3BP1-PMS2P11; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000265479; TranscriptID:ENST00000636308; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003309 28443625 NONHSAT121628.2 rs2245368 T N/A 98,173 european ancestry women//64,373 european ancestry men//5,829 european ancestry individuals//10,500 african american/afro-caribbean ancestry women//2,706 african american/afro-caribbean ancestry men//1,030 indian asian ancestry women//7,648 indian asian ancestry men//1,793 filipino ancestry women//2,944 hispanic/latino ancestry women//1,764 hispanic/latino ancestry men; 21,496 european ancestry women//24,385 european ancestry men//118,364 european ancestry individuals//2,326 african american/afro-caribbean ancestry women//855 african american/afro-caribbean ancestry men EFO_0001073 adjusted for smoking behaviour Associate Bmi (adjusted for smoking behaviour) rs2245368-T of NONHSAT121628.2 is significantly associated with the bmi (adjusted for smoking behaviour) by using GWAS analysis in 98,173 european ancestry women//64,373 european ancestry men//5,829 european ancestry individuals//10,500 african american/afro-caribbean ancestry women//2,706 african american/afro-caribbean ancestry men//1,030 indian asian ancestry women//7,648 indian asian ancestry men//1,793 filipino ancestry women//2,944 hispanic/latino ancestry women//1,764 hispanic/latino ancestry men; 21,496 european ancestry women//24,385 european ancestry men//118,364 european ancestry individuals//2,326 african american/afro-caribbean ancestry women//855 african american/afro-caribbean ancestry men(p-value = 3E-10 ;OR = 0.0331). 0.4 Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits. genome-wide association analysis NONHSAT121628.2 lncRNA Obesity 0.565 CCCTCGCTGG(C > T)CCGTTACATT chr7: 76978826 0.3387,0.6613 0.21696610601427115,0.78303389398572884 Region score:0.43; TSS score:0.34; Unmatched score:0.68; Average GERP:1.0656138613861392 GeneName:AC114737.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000225703; TranscriptID:ENST00000434531; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC114737.3; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000283398; TranscriptID:ENST00000636708; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:DTX2P1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000186704; TranscriptID:ENST00000425797; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:DTX2P1-UPK3BP1-PMS2P11; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000265479; TranscriptID:ENST00000636308; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003309 25673413 NONHSAT121628.2 rs2245368 C N/A up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals EFO_0001073 N/A Associate Body mass index rs2245368-C of NONHSAT121628.2 is significantly associated with the body mass index by using GWAS analysis in up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals(p-value = 1E-6 ;OR = 0.034). 0.4 Genetic studies of body mass index yield new insights for obesity biology. genome-wide association analysis NONHSAT121628.2 lncRNA Obesity 0.565 CCCTCGCTGG(C > T)CCGTTACATT chr7: 76978826 0.3387,0.6613 0.21696610601427115,0.78303389398572884 Region score:0.43; TSS score:0.34; Unmatched score:0.68; Average GERP:1.0656138613861392 GeneName:AC114737.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000225703; TranscriptID:ENST00000434531; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC114737.3; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000283398; TranscriptID:ENST00000636708; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:DTX2P1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000186704; TranscriptID:ENST00000425797; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:DTX2P1-UPK3BP1-PMS2P11; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000265479; TranscriptID:ENST00000636308; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003309 28448500 NONHSAT121628.2 rs2245368 ? N/A 561 african american women//352 filipino ancestry women//725 indian ancestry women//19,366 european ancestry women//251 african american men//4,654 indian ancestry men//11,727 european ancestry men//959 european ancestry individuals; 1,437 african american women//5,184 european ancestry women//64 african american men//5,416 european ancestry men EFO_0001073 joint analysis main effects and physical activity interaction Associate Body mass index (joint analysis main effects and physical activity interaction) rs2245368-? of NONHSAT121628.2 is significantly associated with the body mass index (joint analysis main effects and physical activity interaction) by using GWAS analysis in 561 african american women//352 filipino ancestry women//725 indian ancestry women//19,366 european ancestry women//251 african american men//4,654 indian ancestry men//11,727 european ancestry men//959 european ancestry individuals; 1,437 african american women//5,184 european ancestry women//64 african american men//5,416 european ancestry men(p-value = 5E-9 ;OR = ?). 0.4 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. genome-wide association analysis NONHSAT121628.2 lncRNA Obesity 0.565 CCCTCGCTGG(C > T)CCGTTACATT chr7: 76978826 0.3387,0.6613 0.21696610601427115,0.78303389398572884 Region score:0.43; TSS score:0.34; Unmatched score:0.68; Average GERP:1.0656138613861392 GeneName:AC114737.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000225703; TranscriptID:ENST00000434531; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC114737.3; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000283398; TranscriptID:ENST00000636708; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:DTX2P1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000186704; TranscriptID:ENST00000425797; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:DTX2P1-UPK3BP1-PMS2P11; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000265479; TranscriptID:ENST00000636308; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003310 26480920 NONHSAT217720.1 rs16910486 A N/A 1,152 european ancestry males//1,361 european ancestry females EFO_0004765 N/A Associate Visceral adipose tissue rs16910486-A of NONHSAT217720.1 is significantly associated with the visceral adipose tissue by using GWAS analysis in 1,152 european ancestry males//1,361 european ancestry females(p-value = 6E-7 ;OR = 0.07). 0.4 Genome-wide association studies suggest sex-specific loci associated with abdominal and visceral fat. genome-wide association analysis NONHSAT217720.1 lncRNA Visceral adipose tissue measurement 0.33 CAGGGCTCCC(A > G)ACTTCAGGAG chr8: 139340115 0.8758,0.1242 0.87508760193679918,0.12491239806320081 Region score:0.31; TSS score:0.18; Unmatched score:0.18; Average GERP:-1.3991584158415846 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000871586; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003311 27492330 IFNG-AS1 rs7134599 ? dominant 50 anonymized samples, 19 for the initial profiling experiment and 31 for the validation cohort EFO_0000729 N/A increasing risk ulcerative colitis rs7134599-? of IFNG-AS1 and its dysfunction is significantly associated with the increasing risk of Ulcerative colitis by using case-control analysis in 50 anonymized samples, 19 for the initial profiling experiment and 31 for the validation cohort 0.9 A long noncoding RNA signature for ulcerative colitis identifies IFNG-AS1 as an enhancer of inflammation. case-control analysis IFNG-AS1 lncRNA Ulcerative colitis 0.593 AGATCAAGAC(G > A)TGCTTATAAT chr12: 68106295 0.8013,0.1987 0.69092443934760448,0.30907556065239551 Region score:0.4; TSS score:0.32; Unmatched score:0.2; Average GERP:0.6950237623762376 GeneName:IFNG-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000255733; TranscriptID:ENST00000536914; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000461537; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003312 27225129 NONHSAT177655.1 rs12957516 T N/A 280,007 european ancestry individuals EFO_0004784 N/A Associate Educational attainment (college completion) rs12957516-T of NONHSAT177655.1 is significantly associated with the educational attainment (college completion) by using GWAS analysis in 280,007 european ancestry individuals(p-value = 2E-8 ;OR = 1.037373). 0.4 Genome-wide association study identifies 74 loci associated with educational attainment. genome-wide association analysis NONHSAT177655.1 lncRNA Self reported educational attainment 0.33 ATGGACTCAA(C > T)TGGGGACAGT chr18: 37635554 0.5325,0.4675 0.46614583333333333,0.53385416666666666 Region score:0.45; TSS score:0.32; Unmatched score:0.08; Average GERP:-0.19769405940594065 GeneName:AC009899.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000285940; TranscriptID:ENST00000649194; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000573460; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003313 24159190 NONHSAT181238.1 rs55794209 A N/A 5110 european ancestry individuals EFO_0003777 N/A Associate Serum dimethylarginine levels (asymmetric/symetric ratio) rs55794209-A of NONHSAT181238.1 is significantly associated with the serum dimethylarginine levels (asymmetric/symetric ratio) by using GWAS analysis in 5110 european ancestry individuals(p-value = 3E-6 ;OR = 0.227). 0.4 Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality. genome-wide association analysis NONHSAT181238.1 lncRNA Heart disease 0.33 GGCAAGGCCA(C > A)CACAGTCTCC chr2: 9505503 0.9854,0.01458 0.97383887614678899,0.02616112385321100 Region score:0.31; TSS score:0.07; Unmatched score:0.49; Average GERP:-1.4825996039603964 GeneName:AC080162.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000239300; TranscriptID:ENST00000480764; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ADAM17; CADD-Score:2; Consquence:intron; GeneID:ENSG00000151694; TranscriptID:ENST00000497134; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003314 24529757 NONHSAT220546.1 rs776776 ? N/A 250 han chinese ancestry cases//250 han chinese ancestry controls EFO_0001357 N/A Associate Amyotrophic lateral sclerosis (sporadic) rs776776-? of NONHSAT220546.1 is significantly associated with the amyotrophic lateral sclerosis (sporadic) by using GWAS analysis in 250 han chinese ancestry cases//250 han chinese ancestry controls(p-value = 2E-6 ;OR = ?). 0.4 Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations. genome-wide association analysis NONHSAT220546.1 lncRNA Sporadic amyotrophic lateral sclerosis 0.33 GCACTACCAT(A > G)TACTCTTGTT chr9: 18657560 0.3782,0.6218 0.44397457951070336,0.55602542048929663 Region score:0.35; TSS score:0.21; Unmatched score:0.35; Average GERP:-0.9696440594059409 GeneName:ADAMTSL1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000178031; TranscriptID:ENST00000380548; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000876860; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003315 26830138 NONHSAT212859.1 rs116932763 A N/A 2,478 european ancestry cases//979 ancestry controls both from the same 1,070 families EFO_0000249 N/A Associate Alzheimer disease and age of onset rs116932763-A of NONHSAT212859.1 is significantly associated with the alzheimer disease and age of onset by using GWAS analysis in 2,478 european ancestry cases//979 ancestry controls both from the same 1,070 families(p-value = 2E-7 ;OR = 5.171). 0.4 Family-based association analyses of imputed genotypes reveal genome-wide significant association of Alzheimer's disease with OSBPL6, PTPRG, and PDCL3. genome-wide association analysis NONHSAT212859.1 lncRNA Alzheimers disease 0.33 TGGCCTCTCC(G > A)GTTGTCTGTG chr7: 149851920 0.9864,0.01358 0.98774369266055045,0.01225630733944954 Region score:0.4; TSS score:0.29; Unmatched score:0.37; Average GERP:-0.36249801980198004 GeneName:AC004877.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000280149; TranscriptID:ENST00000623941; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ZNF862; CADD-Score:2; Consquence:intron; GeneID:ENSG00000106479; TranscriptID:ENST00000223210; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003316 28540026 NONHSAT210476.1 rs73416724 A N/A up to 6,197 european ancestry asd cases//up to 7,377 european ancestry controls//up to 1,190 asd cases//up to 1,190 controls EFO_0003756 N/A Associate Autism spectrum disorder rs73416724-A of NONHSAT210476.1 is significantly associated with the autism spectrum disorder by using GWAS analysis in up to 6,197 european ancestry asd cases//up to 7,377 european ancestry controls//up to 1,190 asd cases//up to 1,190 controls(p-value = 3E-8 ;OR = 1.09). 0.4 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. genome-wide association analysis NONHSAT210476.1 lncRNA Autism spectrum disorder 0.33 GCCCACCGAA(A > G)TCCTGTCCCC chr6: 43370064 0.9135,0.08646 0.89501306065239551,0.10498693934760448 Region score:0.45; TSS score:0.6; Unmatched score:0.9; Average GERP:-0.8394465346534654 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000197124; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000791056; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ZNF318; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000171467; TranscriptID:ENST00000361428; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003317 21357676 NONHSAT211718.1 rs6968865 T N/A 5,840 european ancestry individuals//771 sorbian (founder/genetic isolate) individuals; 4,050 european ancestry individuals EFO_0004330 N/A Associate Coffee consumption rs6968865-T of NONHSAT211718.1 is significantly associated with the coffee consumption by using GWAS analysis in 5,840 european ancestry individuals//771 sorbian (founder/genetic isolate) individuals; 4,050 european ancestry individuals(p-value = 2E-11 ;OR = 0.26). 0.4 Sequence variants at CYP1A1-CYP1A2 and AHR associate with coffee consumption. genome-wide association analysis NONHSAT211718.1 lncRNA Coffee consumption 0.33 GGTTGGGAGA(A > T)ATCTCCACAC chr7: 17247645 0.5433,0.4567 0.47633154943934760,0.52366845056065239 Region score:0.29; TSS score:0.12; Unmatched score:0.03; Average GERP:0.05885148514851481 GeneName:AC073332.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000237773; TranscriptID:ENST00000643090; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AHR; CADD-Score:3; Consquence:5_prime_UTR; GeneID:ENSG00000106546; TranscriptID:ENST00000642825; AnnoType:5PRIME_UTR; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003318 23563607 NONHSAT103742.2 rs10058074 A N/A 8,097 european ancestry tall individuals//8,099 european ancestry short individuals; 4,872 european ancestry tall individuals//4,831 european ancestry short individuals EFO_0004339 N/A Associate Height rs10058074-A of NONHSAT103742.2 is significantly associated with the height by using GWAS analysis in 8,097 european ancestry tall individuals//8,099 european ancestry short individuals; 4,872 european ancestry tall individuals//4,831 european ancestry short individuals(p-value = 4E-12 ;OR = 1.15). 0.4 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. genome-wide association analysis NONHSAT103742.2 lncRNA Body height 0.33 ATAGGAAATT(G > A)AAGATAAATA chr5: 132350453 0.8425,0.1575 0.69118724515800203,0.30881275484199796 Region score:0.21; TSS score:0.15; Unmatched score:0.17; Average GERP:-0.4044730495049505 GeneName:MIR3936HG; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000233006; TranscriptID:ENST00000621103; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000769434; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003319 23419831 NONHSAT205734.1 rs7702276 T N/A 555 european ancestry individuals EFO_0000249 N/A Associate Alzheimer's disease biomarkers rs7702276-T of NONHSAT205734.1 is significantly associated with the alzheimer's disease biomarkers by using GWAS analysis in 555 european ancestry individuals(p-value = 1E-6 ;OR = ?). 0.4 APOE and BCHE as modulators of cerebral amyloid deposition: a florbetapir PET genome-wide association study. genome-wide association analysis NONHSAT205734.1 lncRNA Alzheimers disease 0.33 GTGTATAATA(C > T)TCATAAAGTT chr5: 52509908 0.4768,0.5232 0.52212347094801223,0.47787652905198776 Region score:0.23; TSS score:0.08; Unmatched score:0.02; Average GERP:0.30228178217821783 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003320 28928442 NONHSAT149895.1 rs144824089 ? N/A 60,098 european ancestry cases//113,323 european ancestry controls EFO_0007924 N/A Associate Tonsillectomy rs144824089-? of NONHSAT149895.1 is significantly associated with the tonsillectomy by using GWAS analysis in 60,098 european ancestry cases//113,323 european ancestry controls(p-value = 4E-6 ;OR = 0.7571). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. genome-wide association analysis NONHSAT149895.1 lncRNA Tonsillectomy risk measurement 0.33 ACCTGGCAGC(C > G)TTTTGGTTAA chr1: 157210312 0.9962,0.003794 0.99331039755351681,0.00668960244648318 Region score:0.35; TSS score:0.13; Unmatched score:0.06; Average GERP:-0.1104633663366336 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003321 23459097 PCGEM1 rs6434568 C N/a 656 cases and 702 controls EFO_0001663 N/A Increasing risk Prostate cancer rs6434568-C of PCGEM1 and its dysfunction is significantly associated with the increasing risk of prostate cancer by using case-control analysis in 656 cases and 702 controls. 0.4 Association between lncrna PCGEM1 polymorphisms and prostate cancer risk. case-control analysis PCGEM1 lncRNA Prostate cancer 0.33 TGAAACCAGC(C > A,T)TAAATATGTT chr2: 192758626 N/A 0.49936289500509683,0.50063710499490316,. Region score:0.27; TSS score:0.1; Unmatched score:0.03; Average GERP:0.5389057425742577 GeneName:PCGEM1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000227418; TranscriptID:ENST00000454040; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003322 24995424 miR-122 rs4309483 A Dominant 1,300 hbv-positive hcc cases, 1,344 hbv carriers, and 1,344 persons who cleared hbv naturally EFO_0004239 N/A Decreasing risk Chronic hepatitis b virus infection rs4309483-A of miR-122 and its dysfunction is significantly associated with the decreasing risk of chronic hepatitis B virus infection by using case-control analysis in 1,300 HBV-positive HCC cases, 1,344 HBV carriers, and 1,344 persons who cleared HBV naturally . By using the disease cell lines or tissues, the mutation of miR-122 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 A genetic variant in microRNA-122 regulatory region confers risk for chronic hepatitis B virus infection and hepatocellular carcinoma in Han Chinese. case-control analysis; Function hsa-mir-122 miRNA Chronic hepatitis b infection 0.593 CATCACCGCC(A > C)CTTAAGGAGA chr18: 58418685 0.3199,0.6801 0.29948713047910295,0.70051286952089704 Region score:0.39; TSS score:0.22; Unmatched score:0.06; Average GERP:-0.26521990099009907 GeneName:AC105105.2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000267675; TranscriptID:ENST00000585470; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003323 23934736 NONHSAT218862.1 rs11775199 A N/A 1,260 african american individuals EFO_0005275 N/A Associate Metabolite levels (dihydroxy docosatrienoic acid) rs11775199-A of NONHSAT218862.1 is significantly associated with the metabolite levels (dihydroxy docosatrienoic acid) by using GWAS analysis in 1,260 african american individuals(p-value = 7E-6 ;OR = 0.11). 0.4 Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study. genome-wide association analysis NONHSAT218862.1 lncRNA Dihydroxy docosatrienoic acid measurement 0.33 GGCCTGGTCA(A > G)CTCACCTTAA chr8: 128268703 0.762,0.238 0.69542399337410805,0.30457600662589194 Region score:0.47; TSS score:0.28; Unmatched score:0.18; Average GERP:-1.0337485148514851 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003324 22778062 SNORD115-36 rs72546395 T N/a N/a function N/A Not significant changes in the structure Function rs72546395-T of SNORD115-36 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD115-36 snoRNA Function -0.049 AATAGGATTA(C > T)GCTGAGGCCC chr15: 25236156 0.9567,0.04333 0.95493278542303771,0.04506721457696228 Region score:0.31; TSS score:0.09; Unmatched score:0.48; Average GERP:0.038783168316831915 GeneName:SNHG14; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000224078; TranscriptID:ENST00000453082; AnnoType:INTRONIC; mirSVR-Score:-0.0147; mirSVR-E:-17.97 | GeneName:SNORD115-34; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000199311; TranscriptID:ENST00000362441; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0147; mirSVR-E:-17.97 | GeneName:SNORD115-35; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000201992; TranscriptID:ENST00000365122; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0147; mirSVR-E:-17.97 | GeneName:SNORD115-36; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000202499; TranscriptID:ENST00000365629; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0147; mirSVR-E:-17.97 | GeneName:SNORD115-37; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000200638; TranscriptID:ENST00000363768; AnnoType:UPSTREAM; mirSVR-Score:-0.0147; mirSVR-E:-17.97 | GeneName:SNORD115-38; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000201907; TranscriptID:ENST00000365037; AnnoType:UPSTREAM; mirSVR-Score:-0.0147; mirSVR-E:-17.97 | NCRV0000003325 19164563 microRNA-146a rs2910164 GC N/a 16 samples of thyroid tissue derived from ptc patients EFO_0002892 N/A Increasing risk Thyroid cancer rs2910164-GC of microRNA-146a and its dysfunction is significantly associated with the increasing risk of thyroid cancer by using case-control analysis in 16 samples of thyroid tissue derived from PTC patients. By using the disease cell lines or tissues, the interference and mutation of microRNA-146a has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. Moreover, the ncRNA variation-disease association was validated by complex experiments. 1.4 Polymorphic mature microRNAs from passenger strand of pre-miR-146a contribute to thyroid cancer. case-control analysis; Function; Mechanism hsa-mir-146a miRNA Thyroid cancer 0.753 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 N/A 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003326 27629369 NONHSAT210735.1 rs17718467 ? N/A 8,490 european ancestry individuals//1,228 african american individuals//867 hispanic american individuals//175 individuals EFO_0007865 N/A Associate Loneliness rs17718467-? of NONHSAT210735.1 is significantly associated with the loneliness by using GWAS analysis in 8,490 european ancestry individuals//1,228 african american individuals//867 hispanic american individuals//175 individuals(p-value = 4E-6 ;OR = 0.126). 0.4 Genome-Wide Association Study of Loneliness Demonstrates a Role for Common Variation. genome-wide association analysis NONHSAT210735.1 lncRNA Loneliness measurement 0.33 ATGATGCTCT(G > C)CCATCCACTA chr6: 81791045 0.9894,0.01058 0.98126911314984709,0.01873088685015290 Region score:0.35; TSS score:0.18; Unmatched score:0.01; Average GERP:-0.6216346534653465 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003327 27718165 MIR122 rs17669 C N/A 207 ulcerative colitis patients, and 298 matched healthy controls EFO_0000729 N/A no significance for risk ulcerative colitis rs17669-C of hsa-mir-122 and its dysfunction is not significantly associated with Ulcerative colitis by using case-control analysis in 207 ulcerative colitis patients, and 298 matched healthy controls -0.4 Polymorphisms in MIR122, MIR196A2, and MIR124A Genes are Associated with Clinical Phenotypes in Inflammatory Bowel Diseases. case-control analysis hsa-mir-122 miRNA Ulcerative colitis -0.33 TAAAGTCTGG(C > T)TCTTTTGCAC chr18: 58451261 0.2975,0.7025 0.27535677879714576,0.72464322120285423 Region score:0.34; TSS score:0.28; Unmatched score:0.18; Average GERP:-0.8432356435643568 GeneName:MIR122; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000284440; TranscriptID:ENST00000385044; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR122HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000267391; TranscriptID:ENST00000590797; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3591; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207778; TranscriptID:ENST00000636727; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003328 23251661 NONHSAT133998.2 rs10125054 A N/A 815 hispanic children from 263 families EFO_0003940 N/A Associate Obesity-related traits rs10125054-A of NONHSAT133998.2 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 4E-6 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. genome-wide association analysis NONHSAT133998.2 lncRNA Physical activity 0.33 AAAAAAGGCC(G > A)ACTGGCAGAG chr9: 112035757 0.6765,0.3235 0.73301318807339449,0.26698681192660550 Region score:0.44; TSS score:0.44; Unmatched score:0.57; Average GERP:-0.21988039603960396 GeneName:AL138756.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000259953; TranscriptID:ENST00000563434; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003329 21998595 NONHSAT208667.1 rs2224391 A N/A 20,427 african ancestry individuals; up to 16,436 african american individuals EFO_0004339 N/A Associate Height rs2224391-A of NONHSAT208667.1 is significantly associated with the height by using GWAS analysis in 20,427 african ancestry individuals; up to 16,436 african american individuals(p-value = 3E-6 ;OR = 0.049). 0.4 Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry. genome-wide association analysis NONHSAT208667.1 lncRNA Body height 0.33 CGGTACAGAG(A > C,G)TAACACTTGT chr6: 5260703 0.597,0.403,. 0.57368119266055045,0.42631880733944954,. Region score:0.41; TSS score:0.45; Unmatched score:0.9; Average GERP:2.5667693069306936 GeneName:FARS2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000145982; TranscriptID:ENST00000324331; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LYRM4; CADD-Score:7; Consquence:missense; GeneID:ENSG00000214113; TranscriptID:ENST00000500576; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000192524; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003330 23251661 NONHSAT038090.2 rs746630 G N/A 815 hispanic children from 263 families EFO_0005116 N/A Associate Obesity-related traits rs746630-G of NONHSAT038090.2 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 4E-6 ;OR = 0.04). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. genome-wide association analysis NONHSAT038090.2 lncRNA Urinary metabolite measurement 0.33 ACTTCTGACT(G > C)TATGACCTGT chr14: 82788861 0.8538,0.1462 0.90632963812436289,0.09367036187563710 Region score:0.35; TSS score:0.25; Unmatched score:0.36; Average GERP:-0.44683168316831673 GeneName:AL355095.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000258683; TranscriptID:ENST00000554451; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003331 24554482 NONHSAT188344.1 rs502716 ? N/A 40 european ancestry cases//37 african american cases//13 hispanic cases//85 european ancestry controls//49 african american controls//30 hispanic controls EFO_0000180 N/A Associate Response to anti-retroviral therapy (ddi/d4t) in hiv-1 infection (grade 1 peripheral neuropathy) rs502716-? of NONHSAT188344.1 is significantly associated with the response to anti-retroviral therapy (ddi/d4t) in hiv-1 infection (grade 1 peripheral neuropathy) by using GWAS analysis in 40 european ancestry cases//37 african american cases//13 hispanic cases//85 european ancestry controls//49 african american controls//30 hispanic controls(p-value = 4E-6 ;OR = 14.0). 0.4 Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384. genome-wide association analysis NONHSAT188344.1 lncRNA Hiv-1 infection 0.33 TTTTGATACC(G > A)CAATGATTAA chr20: 945754 0.7354,0.2646 0.70445495667686034,0.29554504332313965 Region score:0.33; TSS score:0.43; Unmatched score:0.21; Average GERP:-1.3542504950495051 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003332 23534349 NONHSAT204520.1 rs6861497 A N/A 455 african american individuals EFO_0003777 N/A Associate Qrs duration rs6861497-A of NONHSAT204520.1 is significantly associated with the qrs duration by using GWAS analysis in 455 african american individuals(p-value = 5E-6 ;OR = 2.34). 0.4 Generalization of variants identified by genome-wide association studies for electrocardiographic traits in African Americans. genome-wide association analysis NONHSAT204520.1 lncRNA Heart disease 0.33 TAAAAGATAT(A > G)TTAATTTCAT chr5: 102067882 0.3836,0.6164 0.43306415647298674,0.56693584352701325 Region score:0.3; TSS score:0.12; Unmatched score:0; Average GERP:0.21021306930693068 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003333 27488534 NONHSAT179751.1 rs2316205 C N/A 437 european ancestry individuals//364 african american individuals//453 latino individuals//674 japanese american individuals//311 native hawaiian ancestry individuals EFO_0004318 N/A Associate Nicotine metabolite ratio in current smokers rs2316205-C of NONHSAT179751.1 is significantly associated with the nicotine metabolite ratio in current smokers by using GWAS analysis in 437 european ancestry individuals//364 african american individuals//453 latino individuals//674 japanese american individuals//311 native hawaiian ancestry individuals(p-value = 4E-14 ;OR = 0.1786). 0.4 Novel Association of Genetic Markers Affecting CYP2A6 Activity and Lung Cancer Risk. genome-wide association analysis NONHSAT179751.1 lncRNA Smoking behavior 0.33 AATTTTAAAT(T > C)GGATTATTAG chr19: 40840863 0.6178,0.3822 0.60278892711518858,0.39721107288481141 Region score:0.33; TSS score:0.15; Unmatched score:0.04; Average GERP:0 GeneName:AC008537.1; CADD-Score:2; Consquence:intron,NMD; GeneID:ENSG00000268797; TranscriptID:ENST00000601627; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC008537.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000269843; TranscriptID:ENST00000596135; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC008537.3; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000279108; TranscriptID:ENST00000623128; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CYP2A6; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000255974; TranscriptID:ENST00000301141; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003334 26625972 let-7 rs17276588 A N/a 761 patients with surgically resected non-small cell lung cancer EFO_0003060 N/A No significance for risk Non-small cell lung cancer rs17276588-A of let-7 and its dysfunction is not significantly associated with non-small cell lung cancer by using analysis of sequence variation in 761 patients with surgically resected non-small cell lung cancer. -0.4 The pri-let-7a-2 rs1143770C>T is associated with prognosis of surgically resected non-small cell lung cancer. analysis of sequence variation hsa-let-7a-1 miRNA Non-small cell lung cancer -0.33 ACCAATGTGG(G > A)ACTTTGCAAG chrX: 53557457 0.9012,0.09881 0.94305874108053007,0.05694125891946992 Region score:0.66; TSS score:0.13; Unmatched score:0.41; Average GERP:1.1050594059405945 GeneName:HUWE1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000086758; TranscriptID:ENST00000342160; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR98; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000271886; TranscriptID:ENST00000606724; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIRLET7F2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000208012; TranscriptID:ENST00000385277; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003335 19138993 pre-mir423 rs6505162 A Dominant 346 Caucasian esophageal cancer patients (85.5% with esophageal adenocarcinoma) and 346 frequency-matched (age, gender, and ethnicity) controls EFO_0002916 N/A decreasing risk esophageal cancer rs6505162-A of hsa-mir-423 and its dysfunction is significantly associated with the decreasing risk of Esophageal carcinoma by using case-control analysis in 346 Caucasian esophageal cancer patients (85.5% with esophageal adenocarcinoma) and 346 frequency-matched (age, gender, and ethnicity) controls 0.4 Genetic variations in microRNA-related genes are novel susceptibility loci for esophageal cancer risk. case-control analysis hsa-mir-423 miRNA Esophageal carcinoma 0.33 TTGCTTCCTA(A > C,T)CCCGCGCTTG chr17: 30117165 0.5022,0.4978,. 0.57055937818552497,0.42940876656472986,0.00003185524974515 Region score:0.43; TSS score:0.32; Unmatched score:0.93; Average GERP:3.269841584158416 GeneName:AC104984.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000265394; TranscriptID:ENST00000582938; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC104984.5; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000266919; TranscriptID:ENST00000586878; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3184; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284399; TranscriptID:ENST00000637796; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR423; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000283935; TranscriptID:ENST00000362201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000092957; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NSRP1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000126653; TranscriptID:ENST00000247026; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003336 23342264 miR-142 chr17:56408606 C Dominant 56 DLBCL cases EFO_0000403 N/A increasing risk diffuse large B-cell lymphoma chr17:56408606-C of hsa-mir-142 and its dysfunction is significantly associated with the increasing risk of Diffuse large b-cell lymphoma by using analysis of sequence variation in 56 DLBCL cases 0.4 MicroRNA-142 is mutated in about 20% of diffuse large B-cell lymphoma. analysis of sequence variation hsa-mir-142 miRNA Diffuse large b-cell lymphoma 0.33 AGTACACTCA(T > C)CCATAAAGTA chr17:56408606 - - - GeneName:MIR4736; CADD_Score:1; Consquence:downstream; GeneID:ENSG00000264399; TranscriptID:ENST00000581591; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:BZRAP1; CADD_Score:1; Consquence:upstream; GeneID:ENSG00000005379; TranscriptID:ENST00000343736; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR142; CADD_Score:5; Consquence:noncoding_change; GeneID:ENSG00000265206; TranscriptID:ENST00000579003; AnnoType:NonCodingTranscript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD_Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000283927; AnnoType:RegulatoryFeature; mirSVR-Score:NA; mirSVR-E:NA | GeneName:BZRAP1-AS1; CADD_Score:2; Consquence:intronic; GeneID:ENSG00000265148; TranscriptID:ENST00000579527; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003337 27997041 NONHSAT173433.1 rs12445022 A N/A 2,275 european ancestry cases//12,285 european ancestry controls; 1,928 european ancestry cases//38,443 european ancestry controls EFO_1001504 N/A Associate Small vessel stroke rs12445022-A of NONHSAT173433.1 is significantly associated with the small vessel stroke by using GWAS analysis in 2,275 european ancestry cases//12,285 european ancestry controls; 1,928 european ancestry cases//38,443 european ancestry controls(p-value = 3E-9 ;OR = 1.16). 0.4 Genetic variation at 16q24.2 is associated with small vessel stroke. genome-wide association analysis NONHSAT173433.1 lncRNA Small vessel stroke 0.33 GAGAGCCTGG(G > A)AACCCTTACC chr16: 87541726 0.7929,0.2071 0.74020451070336391,0.25979548929663608 Region score:0.34; TSS score:0.55; Unmatched score:0.36; Average GERP:-1.0310277227722768 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003338 19890347 NONHSAT116151.2 rs13208776 ? N/A 32 romanian founder cases//44 european ancestry controls EFO_0004208 N/A Associate Vitiligo rs13208776-? of NONHSAT116151.2 is significantly associated with the vitiligo by using GWAS analysis in 32 romanian founder cases//44 european ancestry controls(p-value = 9E-8 ;OR = ?). 0.4 Genome-wide association study of generalized vitiligo in an isolated European founder population identifies SMOC2, in close proximity to IDDM8. genome-wide association analysis NONHSAT116151.2 lncRNA Vitiligo 0.33 TGGGAAGGGC(G > A,C)TCTGGAAGGA chr6: 168540944 0.8686,0.1314,. 0.77647171253822629,0.22350439602446483,0.00002389143730886 Region score:0.37; TSS score:0.47; Unmatched score:0.47; Average GERP:-1.0629336633663364 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000813314; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SMOC2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000112562; TranscriptID:ENST00000354536; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003339 26390057 NONHSAT060414.2 rs740406 A N/A 31,516 east asian ancestry individuals// 35,352 european ancestry individuals//33,126 south asian ancestry individuals; 87,205 individuals//48,268 east asian ancestry individuals//68,456 european ancestry individuals and 16,328 south asian ancestry individuals EFO_0005763 N/A Associate Pulse pressure rs740406-A of NONHSAT060414.2 is significantly associated with the pulse pressure by using GWAS analysis in 31,516 east asian ancestry individuals// 35,352 european ancestry individuals//33,126 south asian ancestry individuals; 87,205 individuals//48,268 east asian ancestry individuals//68,456 european ancestry individuals and 16,328 south asian ancestry individuals(p-value = 3E-15 ;OR = 0.5495422). 0.4 Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation. genome-wide association analysis NONHSAT060414.2 lncRNA Pulse pressure measurement 0.33 GAACCCTAAA(A > G,T)ACTAGGATAC chr19: 2232222 0.7875,0.2125,. 0.83969641946992864,0.16029561671763506,0.00000796381243628 Region score:0.35; TSS score:0.64; Unmatched score:0.64; Average GERP:-0.8514158415841586 GeneName:DOT1L; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000104885; TranscriptID:ENST00000398665; AnnoType:3PRIME_UTR; mirSVR-Score:-0.0016; mirSVR-E:-12.87 | GeneName:MIR1227; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000221411; TranscriptID:ENST00000408484; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0016; mirSVR-E:-12.87 | GeneName:MIR6789; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000284129; TranscriptID:ENST00000619892; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0016; mirSVR-E:-12.87 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000582021; AnnoType:REGULATORY; mirSVR-Score:-0.0016; mirSVR-E:-12.87 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000582022; AnnoType:REGULATORY; mirSVR-Score:-0.0016; mirSVR-E:-12.87 | GeneName:PLEKHJ1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000104886; TranscriptID:ENST00000587394; AnnoType:INTRONIC; mirSVR-Score:-0.0016; mirSVR-E:-12.87 | GeneName:SF3A2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000104897; TranscriptID:ENST00000221494; AnnoType:UPSTREAM; mirSVR-Score:-0.0016; mirSVR-E:-12.87 | NCRV0000003340 21801394 NONHSAT108734.2 rs3094188 A N/A 424 european ancestry cases//1,881 european ancestry controls EFO_0004276 N/A Associate Drug-induced stevens-johnson syndrome or toxic epidermal necrolysis (sjs/ten) rs3094188-A of NONHSAT108734.2 is significantly associated with the drug-induced stevens-johnson syndrome or toxic epidermal necrolysis (sjs/ten) by using GWAS analysis in 424 european ancestry cases//1,881 european ancestry controls(p-value = 3E-8 ;OR = 1.59). 0.4 Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe. genome-wide association analysis NONHSAT108734.2 lncRNA Stevens-johnson syndrome 0.33 CCTTCCAACT(C > A)AGACATAAAA chr6: 31174468 0.2953,0.7047 0.30808008409785932,0.69191991590214067 Region score:0.11; TSS score:0.15; Unmatched score:0.2; Average GERP:-0.3258737623762376 GeneName:POU5F1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000204531; TranscriptID:ENST00000259915; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PSORS1C3; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000204528; TranscriptID:ENST00000412143; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003341 19079260 NONHSAT018519.2 rs6265 G N/A 72,598 european ancestry individuals//1,160 african american individuals; up to 11,036 european ancestry individuals//32,615 individuals EFO_0004338 N/A Associate Weight rs6265-G of NONHSAT018519.2 is significantly associated with the weight by using GWAS analysis in 72,598 european ancestry individuals//1,160 african american individuals; up to 11,036 european ancestry individuals//32,615 individuals(p-value = 2E-7 ;OR = 4.0). 0.4 Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity. genome-wide association analysis NONHSAT018519.2 lncRNA Body weight 0.33 TCTTCTATCA(C > T)GTGTTCGAAA chr11: 27658369 0.7987,0.2013 0.83567469418960244,0.16432530581039755 Region score:0.5; TSS score:0.56; Unmatched score:0.75; Average GERP:3.0963910891089115 GeneName:BDNF-AS; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000245573; TranscriptID:ENST00000499008; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.6233; mirSVR-E:-17.45 | GeneName:BDNF; CADD-Score:7; Consquence:missense; GeneID:ENSG00000176697; TranscriptID:ENST00000438929; AnnoType:NON_SYNONYMOUS; mirSVR-Score:-0.6233; mirSVR-E:-17.45 | NCRV0000003342 23497314 MIR133A2 chr20:61162197 C Dominant 120 individuals with familial atrial fibrillation Orphanet_334 N/A increasing risk Familial atrial fibrillation chr20:61162197-C of hsa-mir-133a-2 and its dysfunction is significantly associated with the increasing risk of Familial atrial fibrillation by using analysis of sequence variation in 120 individuals with familial atrial fibrillation 0.9 A heterozygous variant in the human cardiac miR-133 gene, MIR133A2, alters miRNA duplex processing and strand abundance. analysis of sequence variation hsa-mir-133a-2 miRNA Familial atrial fibrillation 0.593 TTCAACCAGC(T > C)GTAGCTGTGC chr20:61162197 - - - GeneName:C20orf166; CADD_Score:7; Consquence:non_synonymous; GeneID:ENSG00000174407; TranscriptID:ENST00000370527; AnnoType:CodingTranscript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR133A2; CADD_Score:5; Consquence:noncoding_change; GeneID:ENSG00000207764; TranscriptID:ENST00000347538; AnnoType:NonCodingTranscript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD_Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00001228216; AnnoType:RegulatoryFeature; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003343 28240269 NONHSAT149861.1 rs9427116 T N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0008187 N/A Associate Blood protein levels rs9427116-T of NONHSAT149861.1 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 1E-14 ;OR = 0.3392). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. genome-wide association analysis NONHSAT149861.1 lncRNA Interleukin 6 receptor subunit alpha measurement 0.33 TGTTGAAGTC(T > C)TAATTTCGGC chr1: 154658647 0.5683,0.4317 0.55462378950050968,0.44537621049949031 Region score:0.38; TSS score:0.33; Unmatched score:0.16; Average GERP:-0.4234910891089108 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003344 28181414 miR-196a2 rs11614913 T N/A 176 AR patients and 206 healthy Chinese children as controls EFO_0005854 N/A no significance for risk allergic rhinitis rs11614913-T of hsa-mir-196a-2 and its dysfunction is not significantly associated with Allergic rhinitis by using case-control analysis in 176 AR patients and 206 healthy Chinese children as controls -0.4 A functional variant of miRNA-149 confers risk for allergic rhinitis and comorbid asthma in Chinese children. case-control analysis hsa-mir-196a-2 miRNA Allergic rhinitis -0.33 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003345 29030599 NONHSAT179793.1 rs429358 C N/A up to 586,626 european ancestry individuals//up to 19,433 african ancestry individuals EFO_0007796 N/A Associate Parental lifespan rs429358-C of NONHSAT179793.1 is significantly associated with the parental lifespan by using GWAS analysis in up to 586,626 european ancestry individuals//up to 19,433 african ancestry individuals(p-value = 1E-27 ;OR = 0.9). 0.4 Genome-wide meta-analysis associates HLA-DQA1/DRB1 and LPA and lifestyle factors with human longevity. genome-wide association analysis NONHSAT179793.1 lncRNA Parental longevity 0.33 GGAGGACGTG(T > C)GCGGCCGCCT chr19: 44908684 0.8494,0.1506 0.84440303261977573,0.15559696738022426 Region score:0.28; TSS score:0.39; Unmatched score:0.64; Average GERP:1.473687128712871 GeneName:AC011481.3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000280087; TranscriptID:ENST00000623895; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:APOE; CADD-Score:7; Consquence:missense; GeneID:ENSG00000130203; TranscriptID:ENST00000252486; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TOMM40; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000130204; TranscriptID:ENST00000252487; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003346 27863252 NONHSAT155096.1 rs1912580 C N/A 172,378 european ancestry individuals EFO_0007991 N/A Associate Eosinophil percentage of white cells rs1912580-C of NONHSAT155096.1 is significantly associated with the eosinophil percentage of white cells by using GWAS analysis in 172,378 european ancestry individuals(p-value = 4E-17 ;OR = 0.04177164). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT155096.1 lncRNA Eosinophil percentage of leukocytes 0.33 ATTGTGCCTA(G > C)GGGAGTTATA chr10: 8995019 0.8536,0.1464 0.84365443425076452,0.15634556574923547 Region score:0.23; TSS score:0.14; Unmatched score:0.06; Average GERP:-0.8022855445544554 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003347 26077951 NONHSAT125810.2 rs643472 ? N/A 152 cases//3,111 controls; 67 cases//457 controls Orphanet_278 N/A Associate Corticobasal degeneration rs643472-? of NONHSAT125810.2 is significantly associated with the corticobasal degeneration by using GWAS analysis in 152 cases//3,111 controls; 67 cases//457 controls(p-value = 1E-6 ;OR = 1.83). 0.4 Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy. genome-wide association analysis NONHSAT125810.2 lncRNA Corticobasal degeneration 0.33 GACACTGAGT(C > T)GGGCAGATAA chr8: 29296260 0.2638,0.7362 0.26417558613659531,0.73582441386340468 Region score:0.29; TSS score:0.3; Unmatched score:0.17; Average GERP:-0.09958218255445539 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003348 27863252 NONHSAT061038.2 rs10409243 T N/A 170,384 european ancestry individuals EFO_0009390 N/A Associate Sum neutrophil eosinophil counts rs10409243-T of NONHSAT061038.2 is significantly associated with the sum neutrophil eosinophil counts by using GWAS analysis in 170,384 european ancestry individuals(p-value = 5E-9 ;OR = 0.02187366). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT061038.2 lncRNA Sum of neutrophil and eosinophil counts 0.33 AAAGAAGACA(C > A,G,T)AGCGGGGTTC chr19: 10222312 0.5797,.,.,0.4203 0.50259620285423037,0.00057339449541284,0.00312181447502548,0.49370858817533129 Region score:0.4; TSS score:0.68; Unmatched score:0.57; Average GERP:0.10211980198019809 GeneName:DNMT1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000130816; TranscriptID:ENST00000592342; AnnoType:INTRONIC; mirSVR-Score:-0.8233; mirSVR-E:-4.84 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000584242; AnnoType:REGULATORY; mirSVR-Score:-0.8233; mirSVR-E:-4.84 | GeneName:S1PR2; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000267534; TranscriptID:ENST00000646641; AnnoType:3PRIME_UTR; mirSVR-Score:-0.8233; mirSVR-E:-4.84 | NCRV0000003349 27421647 pre-mir-618 rs2682818 A Dominant 440 breast cancer cases and 807 controls EFO_0000305 N/A Increasing risk Breast cancer rs2682818-A of pre-mir-618 and its dysfunction is significantly associated with the increasing risk of breast cancer by using case-control analysis in 440 breast cancer cases and 807 controls. 0.4 Association of single nucleotide polymorphisms in Pre-miR-27a, Pre-miR-196a2, Pre-miR-423, miR-608 and Pre-miR-618 with breast cancer susceptibility in a South American population. case-control analysis hsa-mir-618 miRNA Breast cancer 0.33 CACAGGGTAA(A > C,T)CCTGCTTGTC chr12: 80935757 0.2424,0.7576,. 0.19708046636085626,0.80291953363914373,. Region score:0.28; TSS score:0.39; Unmatched score:0.77; Average GERP:-0.7771772277227725 GeneName:ACSS3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000111058; TranscriptID:ENST00000549175; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LIN7A; CADD-Score:2; Consquence:intron; GeneID:ENSG00000111052; TranscriptID:ENST00000552864; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR618; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000208022; TranscriptID:ENST00000385287; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000054588; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003350 27659466 NONHSAT201025.1 rs1344852 ? N/A 59,565 european ancestry individuals//690 orcadian (founder/genetic isolate) individuals; 13,263 european ancestry individuals//3,603 african american individuals//4,619 indian ancestry individuals EFO_0003777 N/A Associate Qrs duration rs1344852-? of NONHSAT201025.1 is significantly associated with the qrs duration by using GWAS analysis in 59,565 european ancestry individuals//690 orcadian (founder/genetic isolate) individuals; 13,263 european ancestry individuals//3,603 african american individuals//4,619 indian ancestry individuals(p-value = 1E-9 ;OR = 0.47). 0.4 52 Genetic Loci Influencing Myocardial Mass. genome-wide association analysis NONHSAT201025.1 lncRNA Heart disease 0.33 ATCTACTTGA(G > A,C,T)AGATTAGAAG chr4: 20182314 0.1092,.,0.8908,. 0.01898572884811416,0.10521788990825688,0.86532396788990825,0.01047241335372069 Region score:0.49; TSS score:0.3; Unmatched score:0.08; Average GERP:-0.29344356435643576 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003351 27863252 NONHSAT207106.1 rs6929796 A N/A 170,763 european ancestry individuals EFO_0007986 N/A Associate High light scatter reticulocyte count rs6929796-A of NONHSAT207106.1 is significantly associated with the high light scatter reticulocyte count by using GWAS analysis in 170,763 european ancestry individuals(p-value = 7E-12 ;OR = 0.03316401). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT207106.1 lncRNA Reticulocyte count 0.33 TTATAAAGTC(G > A)TCAAAAAGTA chr6: 31554892 0.7308,0.2692 0.77170935270132517,0.22829064729867482 Region score:0.37; TSS score:0.22; Unmatched score:0.11; Average GERP:0.7080105940594059 GeneName:NFKBIL1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000204498; TranscriptID:ENST00000376148; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003352 27863252 NONHSAT197523.1 rs6782228 C N/A 169,219 european ancestry individuals EFO_0007988 N/A Associate Myeloid white cell count rs6782228-C of NONHSAT197523.1 is significantly associated with the myeloid white cell count by using GWAS analysis in 169,219 european ancestry individuals(p-value = 2E-22 ;OR = 0.03977305). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT197523.1 lncRNA Myeloid white cell count 0.33 AGCCAGGCAG(G > C)ACTGGACTTG chr3: 128604581 0.6859,0.3141 0.71094546381243628,0.28905453618756371 Region score:0.25; TSS score:0.41; Unmatched score:0.29; Average GERP:-0.473041287128713 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000700244; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003353 25103824 mir-4742 rs7522956 C Dominant 452 early-stage and 526 late-stage nsclc cases in a caucasian population EFO_0003060 N/A Increasing risk Non-small cell lung cancer rs7522956-C of mir-4742 and its dysfunction is significantly associated with the increasing risk of non-small cell lung cancer by using case-control analysis in 452 early-stage and 526 late-stage NSCLC cases in a Caucasian population. 0.4 Polymorphisms in MicroRNAs are associated with survival in non-small cell lung cancer. case-control analysis hsa-mir-4742 miRNA Non-small cell lung cancer 0.33 CAGATATTTA(A > C)TCTGCCTCAA chr1: 224398256 0.7684,0.2316 0.72219833078491335,0.27780166921508664 Region score:0.42; TSS score:0.21; Unmatched score:0.37; Average GERP:0.7699910891089106 GeneName:MIR4742; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000266618; TranscriptID:ENST00000581069; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:WDR26; CADD-Score:2; Consquence:intron; GeneID:ENSG00000162923; TranscriptID:ENST00000414423; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003354 25944848 LOC100505718 rs16935279 C Dominant 1334 individuals diagnosed with a severe mental disorder in Norwegian EFO_0000677 N/A poor prognosis mental or behavioural disorder rs16935279-C of LOC100505718 and its dysfunction is significantly associated with the poor prognosis of Mental or behavioural disorder by using analysis of sequence variation in 1334 individuals diagnosed with a severe mental disorder in Norwegian 0.4 Genome-wide association study identifies common variants associated with pharmacokinetics of psychotropic drugs. analysis of sequence variation LOC100505718 lncRNA Mental or behavioural disorder 0.33 ATGTTTTCAA(T > C)GCCTAGTAAA chr8: 68961217 0.9247,0.07528 0.97508123088685015,0.02491876911314984 Region score:0.31; TSS score:0.15; Unmatched score:0.16; Average GERP:0.06834316831683174 GeneName:LINC01592; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000253658; TranscriptID:ENST00000518540; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003355 24925725 NONHSAT207102.1 rs9263871 G N/A 588 european ancestry cases//1,412 european ancestry controls EFO_0005761 N/A Associate Lupus nephritis in systemic lupus erythematosus rs9263871-G of NONHSAT207102.1 is significantly associated with the lupus nephritis in systemic lupus erythematosus by using GWAS analysis in 588 european ancestry cases//1,412 european ancestry controls(p-value = 9E-6 ;OR = 1.7). 0.4 Lupus nephritis susceptibility loci in women with systemic lupus erythematosus. genome-wide association analysis NONHSAT207102.1 lncRNA Lupus nephritis 0.33 GAAATGCTGG(A > G)GATGTCCTCA chr6: 31202751 0.619,0.381 0.64764908256880733,0.35235091743119266 Region score:0.21; TSS score:0.36; Unmatched score:0.84; Average GERP:-0.34527959183673457 GeneName:AL662844.3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000271821; TranscriptID:ENST00000606909; AnnoType:UPSTREAM; mirSVR-Score:-0.5130; mirSVR-E:-14.97 | GeneName:AL662844.4; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000272501; TranscriptID:ENST00000606367; AnnoType:UPSTREAM; mirSVR-Score:-0.5130; mirSVR-E:-14.97 | GeneName:HCG27; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000206344; TranscriptID:ENST00000383331; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.5130; mirSVR-E:-14.97 | NCRV0000003356 28240269 NONHSAT207112.1 rs2227955 G N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0008140 N/A Associate Blood protein levels rs2227955-G of NONHSAT207112.1 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 4E-9 ;OR = 0.8484). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. genome-wide association analysis NONHSAT207112.1 lncRNA Gp41 c34 peptide, hiv measurement 0.33 CTTCAAACCT(T > G)CATCACTCAC chr6: 31810300 0.9517,0.04832 0.95706708715596330,0.04293291284403669 Region score:0.33; TSS score:0.43; Unmatched score:0.58; Average GERP:2.9151683168316826 GeneName:HSPA1L; CADD-Score:7; Consquence:missense; GeneID:ENSG00000204390; TranscriptID:ENST00000375654; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LSM2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000204392; TranscriptID:ENST00000375661; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003357 27890468 NONHSAT220447.1 rs36030485 ? N/A 9,650 european ancestry bipolar disorder cases//2,950 european ancestry adhd cases//1,659 european and unknown ancestry adhd cases//16,325 european ancestry controls//2,942 european and unknown ancestry controls//2,096 controls EFO_0000677 N/A Associate Bipolar disorder or attention deficit hyperactivity disorder rs36030485-? of NONHSAT220447.1 is significantly associated with the bipolar disorder or attention deficit hyperactivity disorder by using GWAS analysis in 9,650 european ancestry bipolar disorder cases//2,950 european ancestry adhd cases//1,659 european and unknown ancestry adhd cases//16,325 european ancestry controls//2,942 european and unknown ancestry controls//2,096 controls(p-value = 9E-7 ;OR = ?). 0.4 Genetic Overlap Between Attention-Deficit/Hyperactivity Disorder and Bipolar Disorder: Evidence From Genome-wide Association Study Meta-analysis. genome-wide association analysis NONHSAT220447.1 lncRNA Mental or behavioural disorder 0.33 TTTCCATTCT(C > T)CCACAGAGAC chr9: 2411646 0.981,0.01897 0.96459288990825688,0.03540711009174311 Region score:0.49; TSS score:0.4; Unmatched score:0.37; Average GERP:-0.163165 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000874020; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003358 22491950 MSNP1AS rs4307059 T N/a Autism spectrum disorder EFO_0003756 N/A Increasing risk Autism spectrum disorder rs4307059-T of MSNP1AS and its dysfunction is significantly associated with the increasing risk of autism spectrum disorder by using genome-wide association analysis in autism spectrum disorder. By using the disease cell lines or tissues, the interference and mutation of MSNP1AS has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. Moreover, the ncRNA variation-disease association was validated by complex experiments. 1.4 A noncoding RNA antisense to moesin at 5p14.1 in autism. genome-wide association analysis; Function; Mechanism MSNP1AS lncRNA Autism spectrum disorder 0.753 GTCCGAATTG(T > A,C)TTCATGTAAC chr5: 25967594 0.7855,.,0.2145 0.74264143730886850,.,0.25735856269113149 Region score:0.35; TSS score:0.17; Unmatched score:0.04; Average GERP:0.11097029702970292 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003359 26152337 hsa-mir-604 rs2368393 G N/a 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs2368393-G of hsa-mir-604 and its dysfunction is not significantly associated with hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors. -0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. case-control analysis hsa-mir-604 miRNA Hepatocellular cancer -0.33 AGTGGACACG(A > G)GAGCGTGGAA chr10: 29545069 0.6705,0.3295 0.69442851681957186,0.30557148318042813 Region score:0.28; TSS score:0.08; Unmatched score:0.35; Average GERP:-1.5080584158415835 GeneName:MIR604; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207612; TranscriptID:ENST00000384880; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SVIL; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197321; TranscriptID:ENST00000355867; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003360 19214202 ANRIL rs1333048 ? Recessive 151 generalized agp, 137 localized agp, and 1104 controls EFO_0006342 N/A Increasing risk Aggressive periodontitis rs1333048-? of ANRIL and its dysfunction is significantly associated with the increasing risk of aggressive periodontitis by using case-control analysis in 151 Generalized AgP, 137 Localized AgP, and 1104 controls. 0.4 Identification of a shared genetic susceptibility locus for coronary heart disease and periodontitis. case-control analysis ANRIL lncRNA Aggressive periodontitis 0.33 GGAGATGTTT(A > C)AATGTCGAAT chr9: 22125348 0.5579,0.4421 0.55785709734964322,0.44214290265035677 Region score:0.23; TSS score:0.38; Unmatched score:0.26; Average GERP:-0.30606930693069295 GeneName:CDKN2B-AS1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000240498; TranscriptID:ENST00000428597; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000877606; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003361 27863252 NONHSAT188919.1 rs6125961 A N/A 170,721 european ancestry individuals EFO_0005091 N/A Associate Monocyte count rs6125961-A of NONHSAT188919.1 is significantly associated with the monocyte count by using GWAS analysis in 170,721 european ancestry individuals(p-value = 2E-57 ;OR = 0.0715748). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT188919.1 lncRNA Monocyte count 0.33 TAGGACCCCG(C > A,T)GGGGAGGCCC chr20: 50267587 0.8856,0.1144,. 0.86328523190621814,0.13669884046890927,0.00001592762487257 Region score:0.46; TSS score:0.51; Unmatched score:0.9; Average GERP:-0.49119801980198036 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000653820; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000653827; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SMIM25; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000224397; TranscriptID:ENST00000425497; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003362 26192919 NONHSAT076899.2 rs11677953 ? N/A 12,882 european ancestry cases//21,770 european ancestry controls; 25,273 european ancestry cases//26,715 european ancestry controls//548 iranian ancestry cases//342 iranian ancestry control//1,423 indian ancestry cases//990 indian ancestry controls//2,824 east asian ancestry cases//3,719 east asian ancestry controls EFO_0003767 N/A Associate Inflammatory bowel disease rs11677953-? of NONHSAT076899.2 is significantly associated with the inflammatory bowel disease by using GWAS analysis in 12,882 european ancestry cases//21,770 european ancestry controls; 25,273 european ancestry cases//26,715 european ancestry controls//548 iranian ancestry cases//342 iranian ancestry control//1,423 indian ancestry cases//990 indian ancestry controls//2,824 east asian ancestry cases//3,719 east asian ancestry controls(p-value = 3E-15 ;OR = ?). 0.4 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. genome-wide association analysis NONHSAT076899.2 lncRNA Inflammatory bowel disease 0.33 CCATACTGGT(G > A)TAAACCCGTA chr2: 218256940 0.6603,0.3397 0.62992163608562691,0.37007836391437308 Region score:0.24; TSS score:0.21; Unmatched score:0.43; Average GERP:-0.08708217821782183 GeneName:AC021016.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000261338; TranscriptID:ENST00000562328; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ARPC2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000163466; TranscriptID:ENST00000295685; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GPBAR1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000179921; TranscriptID:ENST00000522678; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003363 27225188 PAX8-AS1 rs1110839 G N/A 1486 cervical cancer patients and 1536 cancer-free controls EFO_0001061 N/A decreasing risk cervical carcinoma rs1110839-G of PAX8-AS1 and its dysfunction is significantly associated with the decreasing risk of Cervical carcinoma by using case-control analysis in 1486 cervical cancer patients and 1536 cancer-free controls 0.4 Expression quantitative trait loci in long non-coding RNA PAX8-AS1 are associated with decreased risk of cervical cancer. case-control analysis PAX8-AS1 lncRNA Cervical carcinoma 0.33 GGTCCTCATC(G > A,C,T)CCCCCTTCTT chr2: 113236840 0.5234,.,.,0.4766 0.54211264016309887,0.00003185524974515,.,0.45785550458715596 Region score:0.28; TSS score:0.18; Unmatched score:0.78; Average GERP:-2.77929099009901 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000617174; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PAX8-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000189223; TranscriptID:ENST00000422956; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PAX8; CADD-Score:2; Consquence:intron; GeneID:ENSG00000125618; TranscriptID:ENST00000263334; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003364 25839716 NONHSAT167587.1 rs117093004 ? N/A 922 european ancestry individuals EFO_0007042 N/A Associate Polychlorinated biphenyl levels rs117093004-? of NONHSAT167587.1 is significantly associated with the polychlorinated biphenyl levels by using GWAS analysis in 922 european ancestry individuals(p-value = 5E-7 ;OR = 1.64). 0.4 Genome-wide association study of plasma levels of polychlorinated biphenyls disclose an association with the CYP2B6 gene in a population-based sample. genome-wide association analysis NONHSAT167587.1 lncRNA Polychlorinated biphenyls measurement 0.33 TCTTGTGAAC(C > G,T)CTGAGATTCA chr13: 56545119 0.997,.,0.002995 0.99186098369011213,0.00001592762487257,0.00812308868501529 Region score:0.39; TSS score:0.28; Unmatched score:0.07; Average GERP:0.5818415841584159 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003365 23400010 NONHSAT212066.1 rs7801534 G N/A 425 european ancestry cases//342 african american cases EFO_0000537 Thiazide-induced Associate Thiazide-induced adverse metabolic effects in hypertensive patients rs7801534-G of NONHSAT212066.1 is significantly associated with the thiazide-induced adverse metabolic effects in hypertensive patients by using GWAS analysis in 425 european ancestry cases//342 african american cases(p-value = 7E-7 ;OR = 4.96). 0.4 Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans. genome-wide association analysis NONHSAT212066.1 lncRNA Hypertension 0.33 CCTTCATGAT(A > G)AAGCCCCTTT chr7: 49290084 0.9006,0.09944 0.90591551987767584,0.09408448012232415 Region score:0.31; TSS score:0.21; Unmatched score:0.08; Average GERP:-0.8460445544554454 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003366 24322204 NONHSAT206096.1 rs147721431 ? N/A 388 european ancestry cases//1,020 european ancestry controls EFO_0000289 N/A Associate Bipolar disorder (body mass index interaction) rs147721431-? of NONHSAT206096.1 is significantly associated with the bipolar disorder (body mass index interaction) by using GWAS analysis in 388 european ancestry cases//1,020 european ancestry controls(p-value = 1E-6 ;OR = ?). 0.4 Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2. genome-wide association analysis NONHSAT206096.1 lncRNA Bipolar disorder 0.33 TCTATGGGTT(C > T)TATATCCATG chr5: 93007488 0.9964,0.003594 0.99063455657492354,0.00936544342507645 Region score:0.23; TSS score:0.08; Unmatched score:0; Average GERP:-0.37020495049504937 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003367 28247064 NONHSAT208618.1 rs316341 G N/A 3,146 individuals EFO_0000249 N/A Associate Cerebrospinal fluid ab1-42 levels rs316341-G of NONHSAT208618.1 is significantly associated with the cerebrospinal fluid ab1-42 levels by using GWAS analysis in 3,146 individuals(p-value = 2E-8 ;OR = 0.025). 0.4 Genome-wide association study identifies four novel loci associated with Alzheimer's endophenotypes and disease modifiers. genome-wide association analysis NONHSAT208618.1 lncRNA Alzheimers disease 0.33 TAAAAAAAAG(G > A)AAAAGGAAAT chr6: 2838014 0.277,0.723 0.29311608053007135,0.70688391946992864 Region score:0.25; TSS score:0.09; Unmatched score:0.33; Average GERP:-0.3184564356435636 GeneName:SERPINB1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000021355; TranscriptID:ENST00000380739; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003368 26384301 HOTAIR rs4759314 G N/a 1,275 gc cases and 1,646 cancer-free controls (753 cases and 1,057 controls for the test set, with additional 522 cases and 589 controls for the validation set) in a chinese population EFO_0000178 N/A Increasing risk Gastric cancer rs4759314-G of HOTAIR and its dysfunction is significantly associated with the increasing risk of gastric cancer by using case-control analysis in 1,275 GC cases and 1,646 cancer-free controls (753 cases and 1,057 controls for the test set, with additional 522 cases and 589 controls for the validation set) in a Chinese population. 0.4 The association analysis of lncRNA HOTAIR genetic variants and gastric cancer risk in a Chinese population. case-control analysis HOTAIR lncRNA Gastric cancer 0.33 AAACAGGCCA(G > A)GCGGATGCAA chr12: 53968051 0.09505,0.905 0.06856046126401630,0.93143953873598369 Region score:0.43; TSS score:0.68; Unmatched score:0.83; Average GERP:2.8445544554455457 GeneName:AC012531.4; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000274817; TranscriptID:ENST00000616509; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC012531.5; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277129; TranscriptID:ENST00000611375; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOTAIR; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000228630; TranscriptID:ENST00000424518; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000458643; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01905; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000275589; TranscriptID:ENST00000611210; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01906; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000277994; TranscriptID:ENST00000611352; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003369 25673413 NONHSAT210418.1 rs943466 G N/A up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals EFO_0001073 N/A Associate Body mass index rs943466-G of NONHSAT210418.1 is significantly associated with the body mass index by using GWAS analysis in up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals(p-value = 9E-6 ;OR = 0.015). 0.4 Genetic studies of body mass index yield new insights for obesity biology. genome-wide association analysis NONHSAT210418.1 lncRNA Obesity 0.52 TAGAACAAGT(G > A)ACCATCTTCC chr6: 33764010 0.7282,0.2718 0.74581899847094801,0.25418100152905198 Region score:0.19; TSS score:0.27; Unmatched score:0.07; Average GERP:-0.12162316831683169 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003369 28448500 NONHSAT210418.1 rs943466 G N/A 2,518 african american women//86,278 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//55,137 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men EFO_0001073 joint analysis main effects and physical activity interaction Associate Body mass index rs943466-G of NONHSAT210418.1 is significantly associated with the body mass index by using GWAS analysis in 2,518 african american women//86,278 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//55,137 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men(p-value = 3E-8 ;OR = 0.0242). 0.4 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. genome-wide association analysis NONHSAT210418.1 lncRNA Obesity 0.52 TAGAACAAGT(G > A)ACCATCTTCC chr6: 33764010 0.7282,0.2718 0.74581899847094801,0.25418100152905198 Region score:0.19; TSS score:0.27; Unmatched score:0.07; Average GERP:-0.12162316831683169 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003369 28448500 NONHSAT210418.1 rs943466 ? N/A 2,518 african american women//86,278 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//55,137 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men EFO_0001073 joint analysis main effects and physical activity interaction Associate Body mass index (joint analysis main effects and physical activity interaction) rs943466-? of NONHSAT210418.1 is significantly associated with the body mass index (joint analysis main effects and physical activity interaction) by using GWAS analysis in 2,518 african american women//86,278 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//55,137 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men(p-value = 7E-6 ;OR = ?). 0.4 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. genome-wide association analysis NONHSAT210418.1 lncRNA Obesity 0.52 TAGAACAAGT(G > A)ACCATCTTCC chr6: 33764010 0.7282,0.2718 0.74581899847094801,0.25418100152905198 Region score:0.19; TSS score:0.27; Unmatched score:0.07; Average GERP:-0.12162316831683169 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003370 23534349 NONHSAT204317.1 rs6894385 C N/A 455 african american individuals EFO_0004278 N/A Associate Qt interval rs6894385-C of NONHSAT204317.1 is significantly associated with the qt interval by using GWAS analysis in 455 african american individuals(p-value = 1E-6 ;OR = 9.92). 0.4 Generalization of variants identified by genome-wide association studies for electrocardiographic traits in African Americans. genome-wide association analysis NONHSAT204317.1 lncRNA Sudden cardiac arrest 0.33 TCTAGCTATC(A > C)AGTCTGTCTT chr5: 73981078 0.8103,0.1897 0.83843017329255861,0.16156982670744138 Region score:0.23; TSS score:0.12; Unmatched score:0.07; Average GERP:-0.3050544554455445 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003371 21743057 NONHSAT216393.1 rs1016343 T N/A 2,782 european ancestry cases//4,458 european ancestry controls; 7,358 european ancestry cases//6,732 european ancestry controls EFO_0001663 N/A Associate Prostate cancer rs1016343-T of NONHSAT216393.1 is significantly associated with the prostate cancer by using GWAS analysis in 2,782 european ancestry cases//4,458 european ancestry controls; 7,358 european ancestry cases//6,732 european ancestry controls(p-value = 4E-10 ;OR = 1.31). 0.4 Genome-wide association study identifies new prostate cancer susceptibility loci. genome-wide association analysis NONHSAT216393.1 lncRNA Prostate cancer 0.52 CATTTCCCTC(C > T)CATGATTACT chr8: 127081052 0.7939,0.2061 0.79183390672782874,0.20816609327217125 Region score:0.27; TSS score:0.43; Unmatched score:0.44; Average GERP:-2.083060891089109 GeneName:CASC19; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000254166; TranscriptID:ENST00000523510; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000230484; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000869254; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PCAT1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000253438; TranscriptID:ENST00000646670; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PRNCR1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000282961; TranscriptID:ENST00000635449; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003371 26034056 NONHSAT216393.1 rs1016343 T N/A 6,406 european ancestry cases//601 african american cases//288 east asian ancestry cases//488 latino cases30,866 european ancestry controls//1,650 african american controls//2,938 east asian ancestry controls//3,141 latino controls; 4,599 european ancestry cases//2,265 african american cases//2,940 european ancestry controls//2,414 african american controls EFO_0001663 N/A Associate Prostate cancer rs1016343-T of NONHSAT216393.1 is significantly associated with the prostate cancer by using GWAS analysis in 6,406 european ancestry cases//601 african american cases//288 east asian ancestry cases//488 latino cases30,866 european ancestry controls//1,650 african american controls//2,938 east asian ancestry controls//3,141 latino controls; 4,599 european ancestry cases//2,265 african american cases//2,940 european ancestry controls//2,414 african american controls(p-value = 5E-21 ;OR = 1.28). 0.4 A large multiethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences. genome-wide association analysis NONHSAT216393.1 lncRNA Prostate cancer 0.52 CATTTCCCTC(C > T)CATGATTACT chr8: 127081052 0.7939,0.2061 0.79183390672782874,0.20816609327217125 Region score:0.27; TSS score:0.43; Unmatched score:0.44; Average GERP:-2.083060891089109 GeneName:CASC19; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000254166; TranscriptID:ENST00000523510; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000230484; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000869254; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PCAT1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000253438; TranscriptID:ENST00000646670; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PRNCR1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000282961; TranscriptID:ENST00000635449; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003371 18264097 NONHSAT216393.1 rs1016343 T N/A 1,854 european ancestry cases//1,894 european ancestry controls; 3,268 european ancestry cases//3,366 european ancestry controls EFO_0001663 N/A Associate Prostate cancer rs1016343-T of NONHSAT216393.1 is significantly associated with the prostate cancer by using GWAS analysis in 1,854 european ancestry cases//1,894 european ancestry controls; 3,268 european ancestry cases//3,366 european ancestry controls(p-value = 1E-7 ;OR = 1.37). 0.4 Multiple newly identified loci associated with prostate cancer susceptibility. genome-wide association analysis NONHSAT216393.1 lncRNA Prostate cancer 0.52 CATTTCCCTC(C > T)CATGATTACT chr8: 127081052 0.7939,0.2061 0.79183390672782874,0.20816609327217125 Region score:0.27; TSS score:0.43; Unmatched score:0.44; Average GERP:-2.083060891089109 GeneName:CASC19; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000254166; TranscriptID:ENST00000523510; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000230484; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000869254; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PCAT1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000253438; TranscriptID:ENST00000646670; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PRNCR1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000282961; TranscriptID:ENST00000635449; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003372 22778062 SNORA44 rs41307828 A N/A N/A function N/A not significant changes in the structure function rs41307828-A of SNORA44 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in nan -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORA44 snoRNA function -0.049 TACTGACCTG(C > T)GCTGTCAAAG chr1: 28580428 0.9848,0.01518 0.97177624872579001,0.02822375127420998 Region score:0.35; TSS score:0.33; Unmatched score:0.71; Average GERP:3.076267326732675 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000003885; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNHG12; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000197989; TranscriptID:ENST00000648327; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORA16A; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000274582; TranscriptID:ENST00000384342; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORA16A; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000280498; TranscriptID:ENST00000628458; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORA44; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000273544; TranscriptID:ENST00000384584; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORA61; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000278274; TranscriptID:ENST00000384581; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORD99; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000221539; TranscriptID:ENST00000408612; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TRNAU1AP; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180098; TranscriptID:ENST00000373830; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003373 25760438 NONHSAT167522.1 rs79490558 ? N/A 89 martu australian aboriginal ancestry cases//302 martu australian aboriginal ancestry controls EFO_0001360 N/A Associate Type 2 diabetes rs79490558-? of NONHSAT167522.1 is significantly associated with the type 2 diabetes by using GWAS analysis in 89 martu australian aboriginal ancestry cases//302 martu australian aboriginal ancestry controls(p-value = 1E-6 ;OR = 0.31). 0.4 First genome-wide association study in an Australian aboriginal population provides insights into genetic risk factors for body mass index and type 2 diabetes. genome-wide association analysis NONHSAT167522.1 lncRNA Type ii diabetes mellitus 0.33 GTGTTCATCG(C > A)ATGTTTACCA chr13: 45312051 0.9511,0.04892 0.97967635066258919,0.02032364933741080 Region score:0.27; TSS score:0.3; Unmatched score:0.46; Average GERP:-0.4707073267326734 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000480710; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003374 27863252 NONHSAT217648.1 rs1982094 T N/A 172,435 european ancestry individuals EFO_0004308 N/A Associate White blood cell count rs1982094-T of NONHSAT217648.1 is significantly associated with the white blood cell count by using GWAS analysis in 172,435 european ancestry individuals(p-value = 8E-15 ;OR = 0.07033336). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT217648.1 lncRNA Leukocyte count 0.33 CCTAACTTTC(C > T)CTTCCATCTC chr8: 129612570 0.8864,0.1136 0.94813965341488277,0.05186034658511722 Region score:0.34; TSS score:0.31; Unmatched score:0.12; Average GERP:-0.08521782178217828 GeneName:CCDC26; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000229140; TranscriptID:ENST00000446592; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003375 26634245 NONHSAT197740.1 rs192376484 A N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs192376484-A of NONHSAT197740.1 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 5E-7 ;OR = 2.355). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT197740.1 lncRNA Pulmonary function measurement 0.33 CTTTAGAGCA(G > A)AGTAATTTTT chr3: 161338027 N/A RS=192376484;RSPOS=161338027;dbSNPBuildID=135;SSR=0;SAO=0;VP=0x050000000005000014000100;WGT=1;VC=SNV;ASP;KGPhase1 Region score:0.23; TSS score:0.29; Unmatched score:0.14; Average GERP:-0.2910495049504951 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003376 27989323 NONHSAT164682.1 rs17647312 C N/A 3,557 finnish ancestry individuals EFO_0005140 N/A Associate Interleukin-13 levels rs17647312-C of NONHSAT164682.1 is significantly associated with the interleukin-13 levels by using GWAS analysis in 3,557 finnish ancestry individuals(p-value = 8E-6 ;OR = 0.4546). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. genome-wide association analysis NONHSAT164682.1 lncRNA Autoimmune disease 0.33 TGCCACACTG(C > T)GACCTCTCTG chr12: 52145057 0.9834,0.01657 0.97653860856269113,0.02346139143730886 Region score:0.46; TSS score:0.47; Unmatched score:0.38; Average GERP:-0.7309752475247525 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003377 22778062 SNORA25 rs80077790 C N/A N/A function N/A not significant changes in the structure function rs80077790-C of SNORA25 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in nan -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORA25 snoRNA function -0.049 - - - - - - NCRV0000003378 17554300 NONHSAT171996.1 rs2398162 A N/A 1,952 european ancestry cases//2,938 european ancestry controls EFO_0000537 N/A Associate Hypertension rs2398162-A of NONHSAT171996.1 is significantly associated with the hypertension by using GWAS analysis in 1,952 european ancestry cases//2,938 european ancestry controls(p-value = 6E-6 ;OR = 1.31). 0.4 Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. genome-wide association analysis NONHSAT171996.1 lncRNA Hypertension 0.33 ACTACTGGGC(A > G)TTGTTTCGGA chr15: 96287321 0.7093,0.2907 0.76927242609582059,0.23072757390417940 Region score:0.2; TSS score:0.2; Unmatched score:0.33; Average GERP:-0.8189762376237627 GeneName:AC012409.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000275443; TranscriptID:ENST00000619812; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC016251.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000279645; TranscriptID:ENST00000624299; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NR2F2-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000247809; TranscriptID:ENST00000502125; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003379 27989323 NONHSAT222126.1 rs144160960 C N/A 7,118 finnish ancestry individuals EFO_0004762 N/A Associate Vascular endothelial growth factor levels rs144160960-C of NONHSAT222126.1 is significantly associated with the vascular endothelial growth factor levels by using GWAS analysis in 7,118 finnish ancestry individuals(p-value = 9E-6 ;OR = 0.2573). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. genome-wide association analysis NONHSAT222126.1 lncRNA Vascular endothelial growth factor measurement 0.33 TAGGTGTGAG(C > A)CACTGCACCC chr9: 107259206 0.994,0.00599 0.98806224515800203,0.01193775484199796 Region score:0.37; TSS score:0.11; Unmatched score:0; Average GERP:0.08315000000000002 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003380 19654303 NONHSAT170724.1 rs748404 ? N/A 1,952 european ancestry cases//1,438 european ancestry controls; 2,465 european ancestry cases//3,005 european ancestry controls//3,143 individuals//3,762 individuals EFO_0001071 N/A Associate Lung cancer rs748404-? of NONHSAT170724.1 is significantly associated with the lung cancer by using GWAS analysis in 1,952 european ancestry cases//1,438 european ancestry controls; 2,465 european ancestry cases//3,005 european ancestry controls//3,143 individuals//3,762 individuals(p-value = 1E-6 ;OR = 1.15). 0.4 Deciphering the impact of common genetic variation on lung cancer risk: a genome-wide association study. genome-wide association analysis NONHSAT170724.1 lncRNA Lung cancer 0.33 TTTGCTCACT(T > C)GCCCTCAGGT chr15: 43267033 0.8476,0.1524 0.82879396024464831,0.17120603975535168 Region score:0.54; TSS score:0.64; Unmatched score:0.93; Average GERP:2.0162178217821776 GeneName:ATP5PDP1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000261679; TranscriptID:ENST00000567898; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000514063; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000514064; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TGM5; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000104055; TranscriptID:ENST00000220420; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003381 22778062 SNORD17 rs11700054 A N/A N/A function N/A not significant changes in the structure function rs11700054-A of SNORD17 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in nan -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD17 snoRNA function -0.049 CAAGCAGTTC(A > T)CAGTAGAACA chr20: 17962816 0 RS=11700054;RSPOS=17962816;dbSNPBuildID=120;SSR=0;SAO=0;VP=0x050000080005000102000100;GENEINFO=SNORD17:692086|SNX5:27131;WGT=1;VC=SNV;INT;ASP;GNO Region score:0.47; TSS score:0.32; Unmatched score:0.74; Average GERP:1.5698009900990098 GeneName:OVOL2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000125850; TranscriptID:ENST00000486776; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORD17; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000212232; TranscriptID:ENST00000390930; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNX5; CADD-Score:2; Consquence:intron; GeneID:ENSG00000089006; TranscriptID:ENST00000377768; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003382 23817570 NONHSAT176939.1 rs8067378 G N/A up to 1,364 han chinese ancestry cases//up to 3,028 han chinese ancestry controls; 4,167 han chinese ancestry cases//7,196 han chinese ancestry controls EFO_0001061 N/A Associate Cervical cancer rs8067378-G of NONHSAT176939.1 is significantly associated with the cervical cancer by using GWAS analysis in up to 1,364 han chinese ancestry cases//up to 3,028 han chinese ancestry controls; 4,167 han chinese ancestry cases//7,196 han chinese ancestry controls(p-value = 9E-10 ;OR = 1.19). 0.4 A genome-wide association study identifies two new cervical cancer susceptibility loci at 4q12 and 17q12. genome-wide association analysis NONHSAT176939.1 lncRNA Cervical cancer 0.33 CGTTATAAAT(A > G)GGGAAAAACG chr17: 39895095 0.5685,0.4315 0.51615061162079510,0.48384938837920489 Region score:0.74; TSS score:0.72; Unmatched score:0.69; Average GERP:0.1089841584158415 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003383 26634245 NONHSAT069698.2 rs181043431 T N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio rs181043431-T of NONHSAT069698.2 is significantly associated with the post bronchodilator fev1/fvc ratio by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 4E-6 ;OR = 0.439). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT069698.2 lncRNA Pulmonary function measurement 0.33 CGAGGCCCCT(C > T)GTTAATCTGG chr2: 26686308 0.9992,0.0007987 0.99859836901121304,0.00140163098878695 Region score:0.29; TSS score:0.44; Unmatched score:0.14; Average GERP:0.19275049504950498 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003384 27989323 NONHSAT172070.1 rs116300444 C N/A 8,186 finnish ancestry individuals EFO_0005140 N/A Associate Trail levels rs116300444-C of NONHSAT172070.1 is significantly associated with the trail levels by using GWAS analysis in 8,186 finnish ancestry individuals(p-value = 6E-6 ;OR = 0.2228). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. genome-wide association analysis NONHSAT172070.1 lncRNA Autoimmune disease 0.33 TCAACACATT(C > A,T)GCCGACAGAA chr15: 101523438 0.991,.,0.008986 0.98724197247706422,0.00039819062181447,0.01235983690112130 Region score:0.33; TSS score:0.41; Unmatched score:0.42; Average GERP:-0.8678100000000002 GeneName:AC090164.3; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000277210; TranscriptID:ENST00000610780; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC090164.4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000282793; TranscriptID:ENST00000632451; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000527925; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PCSK6; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000140479; TranscriptID:ENST00000557794; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003385 30113224 MEG3 rs4081134 A N/A 526 lung cancer patients and 526 healthy controls in Chinese Northeast Population EFO_0001071 N/A decreasing risk lung carcinoma rs4081134-A of MEG3 and its dysfunction is significantly associated with the decreasing risk of Lung carcinoma by using case-control analysis in 526 lung cancer patients and 526 healthy controls in Chinese Northeast Population 0.4 Association Between Long Noncoding RNA MEG3 Polymorphisms and Lung Cancer Susceptibility in Chinese Northeast Population. case-control analysis MEG3 lncRNA Lung carcinoma 0.33 TGCTTTCCAT(G > A)TGTCACACAC chr14: 100855451 0.731,0.269 0.71148700305810397,0.28851299694189602 Region score:0.22; TSS score:0.18; Unmatched score:0.25; Average GERP:-0.597950495049505 GeneName:AL117190.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000258399; TranscriptID:ENST00000637474; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AL117190.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000258663; TranscriptID:ENST00000554041; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MEG3; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000214548; TranscriptID:ENST00000524035; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR770; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000211574; TranscriptID:ENST00000390219; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000276116; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003386 27918536 NONHSAT192941.1 rs9611519 T N/A 122,867 european ancestry individuals; 137,994 european ancestry individuals EFO_0007660 N/A Associate Neuroticism rs9611519-T of NONHSAT192941.1 is significantly associated with the neuroticism by using GWAS analysis in 122,867 european ancestry individuals; 137,994 european ancestry individuals(p-value = 9E-9 ;OR = 0.053). 0.4 Genome-wide analyses for personality traits identify six genomic loci and show correlations with psychiatric disorders. genome-wide association analysis NONHSAT192941.1 lncRNA Neuroticism measurement 0.33 AGGCTGCTCC(C > G,T)GTCAGCTGTT chr22: 41217184 0.7594,.,0.2406 0.76783893985728848,.,0.23216106014271151 Region score:0.23; TSS score:0.27; Unmatched score:0.5; Average GERP:2.445079207920792 GeneName:AL035681.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000235513; TranscriptID:ENST00000441316; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.1925; mirSVR-E:-13.73 | GeneName:L3MBTL2; CADD-Score:5; Consquence:synonymous; GeneID:ENSG00000100395; TranscriptID:ENST00000216237; AnnoType:SYNONYMOUS; mirSVR-Score:-0.1925; mirSVR-E:-13.73 | NCRV0000003387 28654678 NONHSAT151283.1 rs75251726 ? N/A 389 east asian ancestry individuals//189 south asian ancestry individuals//492 european ancestry individuals//467 sub-saharan african ancestry individuals//59 african american individuals//157 hispanic/latino individuals EFO_0000769 N/A Associate Epstein-barr virus copy number in lymphoblastoid cell lines rs75251726-? of NONHSAT151283.1 is significantly associated with the epstein-barr virus copy number in lymphoblastoid cell lines by using GWAS analysis in 389 east asian ancestry individuals//189 south asian ancestry individuals//492 european ancestry individuals//467 sub-saharan african ancestry individuals//59 african american individuals//157 hispanic/latino individuals(p-value = 9E-6 ;OR = ?). 0.4 Genetic factors affecting EBV copy number in lymphoblastoid cell lines derived from the 1000 Genome Project samples. genome-wide association analysis NONHSAT151283.1 lncRNA Epstein-barr virus infection 0.33 ATGACAGCTA(T > C)GCCACTGTCT chr1: 25130790 0.9774,0.02256 0.97591743119266055,0.02408256880733944 Region score:0.37; TSS score:0.43; Unmatched score:0.27; Average GERP:0.10085990099009906 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003388 17447842 NONHSAT202526.1 rs1373692 ? N/A 547 european ancestry cases//928 european ancestry controls; 1,266 european ancestry cases//559 european ancestry controls//up to 428 european ancestry trios EFO_0000384 N/A Associate Crohn's disease rs1373692-? of NONHSAT202526.1 is significantly associated with the crohn's disease by using GWAS analysis in 547 european ancestry cases//928 european ancestry controls; 1,266 european ancestry cases//559 european ancestry controls//up to 428 european ancestry trios(p-value = 2E-12 ;OR = 1.46). 0.4 Novel Crohn disease locus identified by genome-wide association maps to a gene desert on 5p13.1 and modulates expression of PTGER4. genome-wide association analysis NONHSAT202526.1 lncRNA Crohn's disease 0.33 GAAGTCCTAG(A > C,T)TCTCCTTTTG chr5: 40431081 0.5208,0.4792,. 0.42015481651376146,0.57980536442405708,0.00003981906218144 Region score:0.24; TSS score:0.11; Unmatched score:0.03; Average GERP:-0.1949742574257426 GeneName:AC093277.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000283286; TranscriptID:ENST00000637776; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003389 24952745 NONHSAT206373.1 rs10040989 A N/A up to 70,389 european ancestry individuals//up to 672 orcadian individuals; up to 33,316 european ancestry individuals EFO_0004278 N/A Associate Qt interval rs10040989-A of NONHSAT206373.1 is significantly associated with the qt interval by using GWAS analysis in up to 70,389 european ancestry individuals//up to 672 orcadian individuals; up to 33,316 european ancestry individuals(p-value = 5E-11 ;OR = 0.85). 0.4 Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization. genome-wide association analysis NONHSAT206373.1 lncRNA Sudden cardiac arrest 0.33 GACCATTTCT(G > A)TATCTTCAGA chr5: 138238036 0.9377,0.0623 0.89642265545361875,0.10357734454638124 Region score:0.31; TSS score:0.26; Unmatched score:0.1; Average GERP:0.22216435643564364 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003390 26345764 miRNA-149 rs2292832 C N/A 8285 patients and 10,716 controls. EFO_0000178 N/A no significance for risk gastric carcinoma rs2292832-C of hsa-mir-149 and its dysfunction is not significantly associated with Gastric carcinoma by using meta-analysis in 8285 patients and 10,716 controls. -0.4 Association between five common polymorphisms in microRNA genes and the risk of gastric cancer: a meta-analysis. meta-analysis hsa-mir-149 miRNA Gastric carcinoma 0 CTGGGGCAGC(T > A,C)GGAACAACGC chr2: 240456086 0.3866,.,0.6134 0.31987449031600407,0.00025484199796126,0.67987066768603465 Region score:0.3; TSS score:0.39; Unmatched score:0.89; Average GERP:1.5002722772277222 GeneName:AC110619.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000218416; TranscriptID:ENST00000404891; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GPC1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000063660; TranscriptID:ENST00000264039; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR149; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207611; TranscriptID:ENST00000384879; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000133146; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003390 30274913 miR-149 rs2292832 T N/A 320 cases and 354 controls EFO_0000178 N/A increasing risk gastric carcinoma rs2292832-T of hsa-mir-149 and its dysfunction is significantly associated with the increasing risk of Gastric carcinoma by using two-stage association study in 320 cases and 354 controls 0.4 Association Between miR-149 Gene rs2292832 Polymorphism and Risk of Gastric Cancer. two-stage association study hsa-mir-149 miRNA Gastric carcinoma 0 CTGGGGCAGC(T > A,C)GGAACAACGC chr2: 240456086 0.3866,.,0.6134 0.31987449031600407,0.00025484199796126,0.67987066768603465 Region score:0.3; TSS score:0.39; Unmatched score:0.89; Average GERP:1.5002722772277222 GeneName:AC110619.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000218416; TranscriptID:ENST00000404891; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GPC1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000063660; TranscriptID:ENST00000264039; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR149; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207611; TranscriptID:ENST00000384879; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000133146; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003391 20598377 NONHSAT061216.2 rs3745672 ? N/A 590 european ancestry cases//825 european ancestry controls EFO_0003885 N/A Associate Multiple sclerosis rs3745672-? of NONHSAT061216.2 is significantly associated with the multiple sclerosis by using GWAS analysis in 590 european ancestry cases//825 european ancestry controls(p-value = 1E-6 ;OR = 7.39). 0.4 Evidence for VAV2 and ZNF433 as susceptibility genes for multiple sclerosis. genome-wide association analysis NONHSAT061216.2 lncRNA Multiple sclerosis 0.33 GCCTTTCAGG(T > C)GACTCCCACG chr19: 12035555 0.9289,0.07109 0.93021311162079510,0.06978688837920489 Region score:0.61; TSS score:0.49; Unmatched score:0.94; Average GERP:-0.27906930693069315 GeneName:AC008770.1; CADD-Score:2; Consquence:intron,NMD; GeneID:ENSG00000257355; TranscriptID:ENST00000547473; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000107240; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000584746; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ZNF433-AS1; CADD-Score:5; Consquence:splice,non_coding_exon; GeneID:ENSG00000219665; TranscriptID:ENST00000476474; AnnoType:SPLICE_SITE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ZNF433; CADD-Score:3; Consquence:5_prime_UTR; GeneID:ENSG00000197647; TranscriptID:ENST00000344980; AnnoType:5PRIME_UTR; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003392 26835600 NONHSAT000719.2 rs11121022 C N/A 38,937 european ancestry morning chronotype individuals//50,346 european ancestry evening chronotype individuals EFO_0004354 N/A Associate Morning vs. evening chronotype rs11121022-C of NONHSAT000719.2 is significantly associated with the morning vs. evening chronotype by using GWAS analysis in 38,937 european ancestry morning chronotype individuals//50,346 european ancestry evening chronotype individuals(p-value = 2E-8 ;OR = 1.07). 0.4 GWAS of 89,283 individuals identifies genetic variants associated with self-reporting of being a morning person. genome-wide association analysis NONHSAT000719.2 lncRNA Circadian rhythm 0.33 TTAGGGGGGA(A > C,T)GTCTTTCACC chr1: 7776599 0.6955,0.3045,. 0.67146884556574923,0.32851522680937818,0.00001592762487257 Region score:0.15; TSS score:0.02; Unmatched score:0.07; Average GERP:-0.34289108910891086 GeneName:VAMP3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000049245; TranscriptID:ENST00000054666; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:Z98884.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000269925; TranscriptID:ENST00000602406; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003393 23535729 NONHSAT022220.2 rs3903072 G N/A 10,052 european ancestry cases//12,575 european ancestry controls; 45,290 european ancestry cases//41,880 european ancestry controls EFO_0000305 N/A Associate Breast cancer rs3903072-G of NONHSAT022220.2 is significantly associated with the breast cancer by using GWAS analysis in 10,052 european ancestry cases//12,575 european ancestry controls; 45,290 european ancestry cases//41,880 european ancestry controls(p-value = 9E-12 ;OR = 1.05). 0.4 Large-scale genotyping identifies 41 new loci associated with breast cancer risk. genome-wide association analysis NONHSAT022220.2 lncRNA Breast cancer 0.52 TTCTGTGCTG(G > T)ATTAGGTCAG chr11: 65815595 0.6835,0.3165 0.65757995667686034,0.34242004332313965 Region score:0.32; TSS score:0.33; Unmatched score:0.1; Average GERP:-0.8008000000000002 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003393 29059683 NONHSAT022220.2 rs3903072 G N/A 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls EFO_0000305 N/A Associate Breast cancer rs3903072-G of NONHSAT022220.2 is significantly associated with the breast cancer by using GWAS analysis in 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls(p-value = 2E-12 ;OR = 1.0309278). 0.4 Association analysis identifies 65 new breast cancer risk loci. genome-wide association analysis NONHSAT022220.2 lncRNA Breast cancer 0.52 TTCTGTGCTG(G > T)ATTAGGTCAG chr11: 65815595 0.6835,0.3165 0.65757995667686034,0.34242004332313965 Region score:0.32; TSS score:0.33; Unmatched score:0.1; Average GERP:-0.8008000000000002 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003393 25751625 NONHSAT022220.2 rs3903072 G N/A 15,748 european ancestry cases//18,084 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls EFO_0000305 N/A Associate Breast cancer rs3903072-G of NONHSAT022220.2 is significantly associated with the breast cancer by using GWAS analysis in 15,748 european ancestry cases//18,084 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls(p-value = 1E-10 ;OR = 1.0526316). 0.4 Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer. genome-wide association analysis NONHSAT022220.2 lncRNA Breast cancer 0.52 TTCTGTGCTG(G > T)ATTAGGTCAG chr11: 65815595 0.6835,0.3165 0.65757995667686034,0.34242004332313965 Region score:0.32; TSS score:0.33; Unmatched score:0.1; Average GERP:-0.8008000000000002 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003394 22661538 mir604 rs2368392 ? N/A 1,097 patients with CRC EFO_0005842 N/A no significance for risk colorectal cancer rs2368392-? of hsa-mir-604 and its dysfunction is not significantly associated with Colorectal cancer by using analysis of sequence variation in 1,097 patients with CRC -0.4 Genetic polymorphisms in MicroRNA-related genes as predictors of clinical outcomes in colorectal adenocarcinoma patients. analysis of sequence variation hsa-mir-604 miRNA Colorectal cancer -0.33 ACACGAGAGC(G > A)TGGAAGGTCA chr10: 29545074 0.6769,0.3231 0.70142870795107033,0.29857129204892966 Region score:0.32; TSS score:0.14; Unmatched score:0.33; Average GERP:-1.4355336633663358 GeneName:MIR604; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207612; TranscriptID:ENST00000384880; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SVIL; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197321; TranscriptID:ENST00000355867; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003395 27863252 NONHSAT188791.1 rs4142441 G N/A 169,545 european ancestry individuals EFO_0007997 N/A Associate Granulocyte percentage of myeloid white cells rs4142441-G of NONHSAT188791.1 is significantly associated with the granulocyte percentage of myeloid white cells by using GWAS analysis in 169,545 european ancestry individuals(p-value = 2E-20 ;OR = 0.04678187). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT188791.1 lncRNA Granulocyte percentage of myeloid white cells 0.33 CGTGCGCCTT(A > G)CGTAATTTCC chr20: 44210980 0.8377,0.1623 0.85020865188583078,0.14979134811416921 Region score:0.55; TSS score:0.41; Unmatched score:0.94; Average GERP:0.8392910891089101 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000137486; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:OSER1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000132823; TranscriptID:ENST00000372970; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:OSER1-DT; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000223891; TranscriptID:ENST00000437730; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003396 25865299 miR-146a rs2910164 C Recessive 5433 ccd cases and 6278 controls EFO_0003763 N/A Decreasing risk Cardio-cerebrovascular diseases rs2910164-C of miR-146a and its dysfunction is significantly associated with the decreasing risk of cardio-cerebrovascular diseases by using meta-analysis in 5433 CCD cases and 6278 controls. 0.4 Association of miR-146a rs2910164 polymorphism with cardio-cerebrovascular diseases: A systematic review and meta-analysis. meta-analysis hsa-mir-146a miRNA Cerebrovascular disorder 0.33 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 N/A 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003397 27863252 NONHSAT197523.1 rs6782228 C N/A 171,748 european ancestry individuals EFO_0007993 N/A Associate Lymphocyte percentage of white cells rs6782228-C of NONHSAT197523.1 is significantly associated with the lymphocyte percentage of white cells by using GWAS analysis in 171,748 european ancestry individuals(p-value = 3E-23 ;OR = 0.04021163). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT197523.1 lncRNA Lymphocyte percentage of leukocytes 0.33 AGCCAGGCAG(G > C)ACTGGACTTG chr3: 128604581 0.6859,0.3141 0.71094546381243628,0.28905453618756371 Region score:0.25; TSS score:0.41; Unmatched score:0.29; Average GERP:-0.473041287128713 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000700244; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003398 27117709 NONHSAT202081.1 rs2736108 ? N/A 4,939 european ancestry estrogen receptor-negative cases//14,352 european ancestry controls; 7,333 european ancestry estrogen receptor-negative cases//7,797 european ancestry brca1 mutation carrier cases//7,455 european ancestry brca1 mutation carrier controls//42,468 european ancestry controls EFO_0000305 N/A Associate Breast cancer rs2736108-? of NONHSAT202081.1 is significantly associated with the breast cancer by using GWAS analysis in 4,939 european ancestry estrogen receptor-negative cases//14,352 european ancestry controls; 7,333 european ancestry estrogen receptor-negative cases//7,797 european ancestry brca1 mutation carrier cases//7,455 european ancestry brca1 mutation carrier controls//42,468 european ancestry controls(p-value = 3E-14 ;OR = 1.1235955). 0.4 Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer. genome-wide association analysis NONHSAT202081.1 lncRNA Breast cancer 0.451 TGTCCACACT(C > T)GCGCCCTGAT chr5: 1297373 0.7216,0.2784 0.75681702344546381,0.24318297655453618 Region score:0.28; TSS score:0.43; Unmatched score:0.43; Average GERP:0.03451485148514858 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000746748; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TERT; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000164362; TranscriptID:ENST00000310581; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003398 25751625 NONHSAT202081.1 rs2736108 C N/A 15,748 european ancestry cases//18,084 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls EFO_0000305 N/A Associate Breast cancer rs2736108-C of NONHSAT202081.1 is significantly associated with the breast cancer by using GWAS analysis in 15,748 european ancestry cases//18,084 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls(p-value = 2E-9 ;OR = 1.0638298). 0.4 Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer. genome-wide association analysis NONHSAT202081.1 lncRNA Breast cancer 0.451 TGTCCACACT(C > T)GCGCCCTGAT chr5: 1297373 0.7216,0.2784 0.75681702344546381,0.24318297655453618 Region score:0.28; TSS score:0.43; Unmatched score:0.43; Average GERP:0.03451485148514858 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000746748; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TERT; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000164362; TranscriptID:ENST00000310581; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003399 27702941 NONHSAT211718.1 rs6968554 A N/A 9,054 european ancestry individuals; 822 european ancestry individuals EFO_0007872 N/A Associate Caffeine metabolism (plasma 1,3,7-trimethylxanthine (caffeine) level) rs6968554-A of NONHSAT211718.1 is significantly associated with the caffeine metabolism (plasma 1,3,7-trimethylxanthine (caffeine) level) by using GWAS analysis in 9,054 european ancestry individuals; 822 european ancestry individuals(p-value = 5E-13 ;OR = 7.22). 0.4 Genome-wide association study of caffeine metabolites provides new insights to caffeine metabolism and dietary caffeine-consumption behavior. genome-wide association analysis NONHSAT211718.1 lncRNA Caffeine metabolite measurement 0.33 AAGCTGGTAG(A > G,T)TCAGAAGTTC chr7: 17247482 0.4561,0.5439,. 0.38622101172273190,0.61376306065239551,0.00001592762487257 Region score:0.31; TSS score:0.18; Unmatched score:0.04; Average GERP:-0.03999009900990111 GeneName:AC073332.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000237773; TranscriptID:ENST00000643090; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AHR; CADD-Score:3; Consquence:5_prime_UTR; GeneID:ENSG00000106546; TranscriptID:ENST00000642825; AnnoType:5PRIME_UTR; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003400 27863421 GAS5 rs145204276 del Dominant 600 newly diagnosed incident crc cases and 600 healthy controls in stage i, and 800 newly diagnosed incident crc cases and 800 healthy controls in stage ii EFO_0005842 N/A Decreasing risk Colorectal cancer rs145204276-del of GAS5 and its dysfunction is significantly associated with the decreasing risk of Colorectal cancer by using case-control analysis in 600 newly diagnosed incident CRC cases and 600 healthy controls in stage I, and 800 newly diagnosed incident CRC cases and 800 healthy controls in stage II. 0.4 LncRNA GAS5 contributes to lymphatic metastasis in colorectal cancer. case-control analysis GAS5 lncRNA Colorectal cancer 0.33 GAGGGGGCGC(GAGGCA > G)AGGCAAGGAA chr1: 173868253 0.8798,0.1202 0.90242737003058103,0.09757262996941896 N/A GeneName:GAS5-AS1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000270084; TranscriptID:ENST00000602767; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GAS5; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000234741; TranscriptID:ENST00000431268; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000015994; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ZBTB37; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000185278; TranscriptID:ENST00000367701; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003401 27958378 NONHSAT194803.1 rs1478173 ? N/A 2,095 european ancestry exposed individuals//42,907 european ancestry unexposed individuals//1,167 african american exposed individuals//10,564 african american unexposed individuals//794 hispanic/latino american exposed individuals//14,330 hispanic/latino american unexposed individuals EFO_0007922 sulfonylurea treatment interaction Associate Jt interval (sulfonylurea treatment interaction) rs1478173-? of NONHSAT194803.1 is significantly associated with the jt interval (sulfonylurea treatment interaction) by using GWAS analysis in 2,095 european ancestry exposed individuals//42,907 european ancestry unexposed individuals//1,167 african american exposed individuals//10,564 african american unexposed individuals//794 hispanic/latino american exposed individuals//14,330 hispanic/latino american unexposed individuals(p-value = 1E-12 ;OR = 15.0). 0.4 Large-scale pharmacogenomic study of sulfonylureas and the QT, JT and QRS intervals: CHARGE Pharmacogenomics Working Group. genome-wide association analysis NONHSAT194803.1 lncRNA Response to sulfonylurea 0.33 AATGAGTTGA(A > C)AATTTCAGTT chr3: 162558617 0.9427,0.05731 0.89939315749235474,0.10060684250764525 Region score:0.35; TSS score:0.2; Unmatched score:0.03; Average GERP:-0.34054455445544546 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003402 17554260 NONHSAT017487.2 rs3741208 T N/A 2,000 european ancestry cases//3,000 european ancestry controls; 2,997 european ancestry trios//4,000 european ancestry cases//5,000 european ancestry controls EFO_0001359 N/A Associate Type 1 diabetes rs3741208-T of NONHSAT017487.2 is significantly associated with the type 1 diabetes by using GWAS analysis in 2,000 european ancestry cases//3,000 european ancestry controls; 2,997 european ancestry trios//4,000 european ancestry cases//5,000 european ancestry controls(p-value = 2E-7 ;OR = 1.25). 0.4 Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. genome-wide association analysis NONHSAT017487.2 lncRNA Type i diabetes mellitus 0.33 CTCTCCCGGC(A > G,T)TTTCTCCTCA chr11: 2148544 0.3271,0.6729,. 0.35827599388379204,0.64168418705402650,0.00003981906218144 Region score:0.24; TSS score:0.57; Unmatched score:0.66; Average GERP:-1.2294000000000005 GeneName:IGF2-AS; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000099869; TranscriptID:ENST00000381361; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.2276; mirSVR-E:-17.12 | GeneName:IGF2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000167244; TranscriptID:ENST00000641326; AnnoType:INTRONIC; mirSVR-Score:-0.2276; mirSVR-E:-17.12 | GeneName:IGF2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000284779; TranscriptID:ENST00000643349; AnnoType:INTRONIC; mirSVR-Score:-0.2276; mirSVR-E:-17.12 | GeneName:INS-IGF2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000129965; TranscriptID:ENST00000397270; AnnoType:INTRONIC; mirSVR-Score:-0.2276; mirSVR-E:-17.12 | NCRV0000003403 27989323 NONHSAT150608.1 rs3002131 G N/A 7,681 finnish ancestry individuals EFO_0005140 N/A Associate Interleukin-10 levels rs3002131-G of NONHSAT150608.1 is significantly associated with the interleukin-10 levels by using GWAS analysis in 7,681 finnish ancestry individuals(p-value = 5E-6 ;OR = 0.1182). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. genome-wide association analysis NONHSAT150608.1 lncRNA Autoimmune disease 0.33 ACAAGTCTTA(G > A,C)TGTGGACAAA chr1: 222602315 0.9575,.,0.04253 0.92619935015290519,0.00007167431192660,0.07372897553516819 Region score:0.35; TSS score:0.19; Unmatched score:0.14; Average GERP:0.05277940594059403 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003404 27863252 NONHSAT142350.2 rs535680968 CT N/A 170,672 european ancestry individuals EFO_0007994 N/A Associate Neutrophil percentage of granulocytes rs535680968-CT of NONHSAT142350.2 is significantly associated with the neutrophil percentage of granulocytes by using GWAS analysis in 170,672 european ancestry individuals(p-value = 6E-11 ;OR = 0.0262416). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT142350.2 lncRNA Neutrophil percentage of granulocytes 0.33 TACTTATTTA(C > CT,CTT,CTTT)TTTTTTTTTT chr16: 48622152 0.5899,0.4101,.,. 0.57713748725790010,0.38292399337410805,0.03986684505606523,0.00007167431192660 N/A GeneName:AC007611.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000260086; TranscriptID:ENST00000564212; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC023813.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000259912; TranscriptID:ENST00000565055; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:N4BP1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000102921; TranscriptID:ENST00000564124; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003405 20935630 NONHSAT172828.1 rs7359397 T N/A up to 123,865 european ancestry individuals; up to 125,931 european ancestry individuals EFO_0001073 N/A Associate Body mass index rs7359397-T of NONHSAT172828.1 is significantly associated with the body mass index by using GWAS analysis in up to 123,865 european ancestry individuals; up to 125,931 european ancestry individuals(p-value = 2E-20 ;OR = 0.15). 0.4 Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. genome-wide association analysis NONHSAT172828.1 lncRNA Obesity 0.33 GCTGTGCTTT(C > T)GGAGCCATCC chr16: 28874338 0.8063,0.1937 0.73048865953109072,0.26951134046890927 Region score:0.34; TSS score:0.33; Unmatched score:0.34; Average GERP:-1.410826732673267 GeneName:ATP2A1-AS1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000260442; TranscriptID:ENST00000561547; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ATP2A1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000196296; TranscriptID:ENST00000357084; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SH2B1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000178188; TranscriptID:ENST00000322610; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003406 25891929 miR-146a rs2910164 C N/a 249 epilepsy patients and 249 healthy controls in two regions of china. EFO_0000474 N/A No significance for risk Epilepsy rs2910164-C of miR-146a and its dysfunction is not significantly associated with epilepsy by using case-control analysis in 249 epilepsy patients and 249 healthy controls in two regions of China. . -0.4 A functional polymorphism of the microRNA-146a gene is associated with susceptibility to drug-resistant epilepsy and seizures frequency. case-control analysis hsa-mir-146a miRNA Epilepsy -0.33 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 N/A 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003407 27863252 NONHSAT197522.1 rs11359909 A N/A 170,702 european ancestry individuals EFO_0004833 N/A Associate Neutrophil count rs11359909-A of NONHSAT197522.1 is significantly associated with the neutrophil count by using GWAS analysis in 170,702 european ancestry individuals(p-value = 1E-34 ;OR = 0.07165217). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT197522.1 lncRNA Neutrophil count 0.33 TAGGAAGCAG(AG > A)GGGGGGACCC chr3: 128603030 N/A 0.11369935015290519,0.88630064984709480 N/A GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003408 25966223 let-7 rs10877887 C Dominant 69 lung cancer patients and 75 healthy controls in Chinese EFO_0000571 N/A increasing risk lung adenocarcinoma rs10877887-C of hsa-let-7a-1 and its dysfunction is significantly associated with the increasing risk of Lung adenocarcinoma by using case-control analysis in 69 lung cancer patients and 75 healthy controls in Chinese 0.4 A single nucleotide polymorphism in the promoter region of let-7 family is associated with lung cancer risk in Chinese. case-control analysis hsa-let-7a-1 miRNA Lung adenocarcinoma 0.33 AGCGGCTCTC(T > C)CCGCAGGACA chr12: 62603400 0.602,0.398 0.57891341743119266,0.42108658256880733 Region score:0.44; TSS score:0.42; Unmatched score:0.97; Average GERP:-0.4853336633663367 GeneName:AC048341.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000257354; TranscriptID:ENST00000550290; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC048341.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000275180; TranscriptID:ENST00000619323; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LINC01465; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000221949; TranscriptID:ENST00000408887; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIRLET7I; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000199179; TranscriptID:ENST00000362309; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MON2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000061987; TranscriptID:ENST00000393630; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000052984; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003409 24978643 MIR499A rs3746444 G Dominant 350 ESRD patients and 350 age-matched, sex-matched, and ethnically matched controls. EFO_0003086 N/A increasing risk kidney disease rs3746444-G of hsa-mir-499a and its dysfunction is significantly associated with the increasing risk of Kidney disease by using case-control analysis in 350 ESRD patients and 350 age-matched, sex-matched, and ethnically matched controls. 0.4 Genetic variants of MicroRNA-related genes in susceptibility and prognosis of end-stage renal disease and renal allograft outcome among north Indians. case-control analysis hsa-mir-499a miRNA Kidney disease 0.33 CCACGTGAAC(A > G)TCACAGCAAG chr20: 34990448 0.8165,0.1835 0.81708715596330275,0.18291284403669724 Region score:0.79; TSS score:0.85; Unmatched score:0.95; Average GERP:3.757564356435645 GeneName:MIR499A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207635; TranscriptID:ENST00000384903; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR499B; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283441; TranscriptID:ENST00000636498; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYH7B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000078814; TranscriptID:ENST00000262873; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003410 21926972 NONHSAT170667.1 rs12912251 G N/A 7,481 european ancestry cases//9,250 european ancestry controls; 4,496 european ancestry cases//42,422 european ancestry controls EFO_0000289 N/A Associate Bipolar disorder rs12912251-G of NONHSAT170667.1 is significantly associated with the bipolar disorder by using GWAS analysis in 7,481 european ancestry cases//9,250 european ancestry controls; 4,496 european ancestry cases//42,422 european ancestry controls(p-value = 3E-6 ;OR = 1.1). 0.4 Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. genome-wide association analysis NONHSAT170667.1 lncRNA Bipolar disorder 0.33 ACAGAAGACA(G > T)TAGACAATAA chr15: 38694167 0.8163,0.1837 0.75262805810397553,0.24737194189602446 Region score:0.24; TSS score:0.3; Unmatched score:0.25; Average GERP:-0.23517425742574247 GeneName:C15orf53; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000175779; TranscriptID:ENST00000318792; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003411 28820441 NONHSAT093206.2 rs7611820 ? N/A 2,703 individuals EFO_0000319 N/A Associate Monocyte chemoattractant protein-1 (red blood cell fatty acid level interaction) rs7611820-? of NONHSAT093206.2 is significantly associated with the monocyte chemoattractant protein-1 (red blood cell fatty acid level interaction) by using GWAS analysis in 2,703 individuals(p-value = 5E-10 ;OR = 1.3171505). 0.4 Genome-Wide Interaction Study of Omega-3 PUFAs and Other Fatty Acids on Inflammatory Biomarkers of Cardiovascular Health in the Framingham Heart Study.LID - E900 [pii]LID - 10.3390/nu9080900 [doi]AB - Numerous genetic loci have been identified genome-wide association analysis NONHSAT093206.2 lncRNA Cardiovascular disease 0.33 TCTCCGCTTC(G > A)TGACCACCAG chr3: 170654068 0.7222,0.2778 0.77497451580020387,0.22502548419979612 Region score:0.29; TSS score:0.24; Unmatched score:0.55; Average GERP:0.018333069306930704 GeneName:AC026316.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000213174; TranscriptID:ENST00000398900; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC026316.3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000244738; TranscriptID:ENST00000497988; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC026316.4; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000285051; TranscriptID:ENST00000643719; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC026316.5; CADD-Score:2; Consquence:intron; GeneID:ENSG00000285218; TranscriptID:ENST00000486975; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003412 27622933 NONHSAT208327.1 rs57043326 ? N/A 1,311 european ancestry non-responder cases//192,178 european ancestry healthy controls EFO_0003761 antidepressants Associate Non-response to antidepressants and depression rs57043326-? of NONHSAT208327.1 is significantly associated with the non-response to antidepressants and depression by using GWAS analysis in 1,311 european ancestry non-responder cases//192,178 european ancestry healthy controls(p-value = 8E-7 ;OR = 2.65252). 0.4 Analysis of 23andMe antidepressant efficacy survey data: implication of circadian rhythm and neuroplasticity in bupropion response. genome-wide association analysis NONHSAT208327.1 lncRNA Unipolar depression 0.33 ATTAACATCA(A > G)TGTAATTCCT chr6: 158893901 0.9515,0.04852 0.94763793323139653,0.05236206676860346 Region score:0.25; TSS score:0.4; Unmatched score:0.23; Average GERP:0.08968316831683175 GeneName:C6orf99; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000203711; TranscriptID:ENST00000643288; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000811365; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003413 24564958 NONHSAT183033.1 rs2304003 T N/A up to 5,628 european ancestry individuals EFO_0005427 N/A Associate Social communication problems rs2304003-T of NONHSAT183033.1 is significantly associated with the social communication problems by using GWAS analysis in up to 5,628 european ancestry individuals(p-value = 9E-6 ;OR = 0.14). 0.4 Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence. genome-wide association analysis NONHSAT183033.1 lncRNA Social communication impairment 0.33 TCCAGATGGT(T > C)ATGTTCTCCT chr2: 165857571 0.2388,0.7612 0.22098783129459734,0.77901216870540265 Region score:0.52; TSS score:0.82; Unmatched score:0.66; Average GERP:1.7131465346534647 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000626789; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TTC21B; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000123607; TranscriptID:ENST00000486672; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003414 28540026 NONHSAT118775.2 rs140364877 ? N/A up to 6,197 european ancestry asd cases//up to 7,377 european ancestry controls//up to 1,190 asd cases//up to 1,190 controls EFO_0003756 N/A Associate Autism spectrum disorder rs140364877-? of NONHSAT118775.2 is significantly associated with the autism spectrum disorder by using GWAS analysis in up to 6,197 european ancestry asd cases//up to 7,377 european ancestry controls//up to 1,190 asd cases//up to 1,190 controls(p-value = 2E-11 ;OR = 1.0869565). 0.4 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. genome-wide association analysis NONHSAT118775.2 lncRNA Autism spectrum disorder 0.33 CACGCAGACA(C > T)GCGTCCGGCT chr7: 1845542 0.5978,0.4022 0.85265354230377166,0.14734645769622833 Region score:0.23; TSS score:0.12; Unmatched score:0.49; Average GERP:-0.000891566265060235 GeneName:AC104129.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000176349; TranscriptID:ENST00000480694; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0029; mirSVR-E:-12.78 | GeneName:MAD1L1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000002822; TranscriptID:ENST00000406869; AnnoType:INTRONIC; mirSVR-Score:-0.0029; mirSVR-E:-12.78 | GeneName:MIR4655; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000265089; TranscriptID:ENST00000580817; AnnoType:UPSTREAM; mirSVR-Score:-0.0029; mirSVR-E:-12.78 | NCRV0000003415 23793025 NONHSAT015739.2 rs6583954 T N/A 23,285 european ancestry cases//95,425 european ancestry controls EFO_0003821 N/A Associate Migraine rs6583954-T of NONHSAT015739.2 is significantly associated with the migraine by using GWAS analysis in 23,285 european ancestry cases//95,425 european ancestry controls(p-value = 4E-6 ;OR = 1.08). 0.4 Genome-wide meta-analysis identifies new susceptibility loci for migraine. genome-wide association analysis NONHSAT015739.2 lncRNA Migraine disorder 0.33 GCCCAGCAAT(C > T)GGGACCTCTA chr10: 94774506 0.7714,0.2286 0.82573585626911314,0.17426414373088685 Region score:0.2; TSS score:0.11; Unmatched score:0.48; Average GERP:-0.0018514851485148323 GeneName:AL583836.1; CADD-Score:2; Consquence:intron,NMD; GeneID:ENSG00000276490; TranscriptID:ENST00000464755; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CYP2C19; CADD-Score:2; Consquence:intron; GeneID:ENSG00000165841; TranscriptID:ENST00000371321; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MTND4P19; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000230338; TranscriptID:ENST00000446659; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003416 23251661 NONHSAT067101.2 rs516246 A N/A 815 hispanic children from 263 families EFO_0004620 N/A Associate Obesity-related traits rs516246-A of NONHSAT067101.2 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 2E-6 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. genome-wide association analysis NONHSAT067101.2 lncRNA Vitamin b12 measurement 0.33 CCCGGGCCTC(C > T)ATCTCCCAGC chr19: 48702915 0.6793,0.3207 0.56168769113149847,0.43831230886850152 Region score:0.17; TSS score:0.18; Unmatched score:0.15; Average GERP:-1.6955256435643564 GeneName:FUT2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000176920; TranscriptID:ENST00000425340; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003417 27016271 NONHSAT039800.2 rs2180386 A N/A 149 isolated population cases//210 isolated population controls EFO_1001510 N/A Associate Developmental language disorder (linguistic errors) rs2180386-A of NONHSAT039800.2 is significantly associated with the developmental language disorder (linguistic errors) by using GWAS analysis in 149 isolated population cases//210 isolated population controls(p-value = 7E-6 ;OR = 0.21). 0.4 Genome-Wide Association and Exome Sequencing Study of Language Disorder in an Isolated Population.LID - 10.1542/peds.2015-2469 [doi]LID - e20152469 [pii]AB - BACKGROUND AND OBJECTIVE: Developmental language disorder (DLD) is a highly preva genome-wide association analysis NONHSAT039800.2 lncRNA Specific language impairment 0.33 TCAACTGTTA(C > A)TCACCCTCCT chr14: 100898928 0.4379,0.5621 0.45696355759429153,0.54303644240570846 Region score:0.26; TSS score:0.24; Unmatched score:0.31; Average GERP:-0.7598574257425741 GeneName:AL117190.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000258399; TranscriptID:ENST00000637474; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MEG8; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000225746; TranscriptID:ENST00000553584; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF02145; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000276225; TranscriptID:ENST00000617245; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF02146; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000275134; TranscriptID:ENST00000610604; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RTL1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000254656; TranscriptID:ENST00000649591; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORD112; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000275662; TranscriptID:ENST00000458974; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003418 27863252 NONHSAT076891.2 rs55799208 A N/A 170,494 european ancestry individuals EFO_0007989 N/A Associate Monocyte percentage of white cells rs55799208-A of NONHSAT076891.2 is significantly associated with the monocyte percentage of white cells by using GWAS analysis in 170,494 european ancestry individuals(p-value = 5E-11 ;OR = 0.2343691). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT076891.2 lncRNA Monocypte percentage of leukocytes 0.33 CATGCCACAC(G > A)CACACTGACC chr2: 218135259 0.9992,0.0007987 0.99875764525993883,0.00124235474006116 Region score:0.3; TSS score:0.45; Unmatched score:0.56; Average GERP:2.868386138613863 GeneName:CXCR2; CADD-Score:7; Consquence:missense; GeneID:ENSG00000180871; TranscriptID:ENST00000318507; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003419 23408906 NONHSAT211278.1 rs9497965 T N/A up to 14,459 european ancestry females//up to 10,936 european ancestry males//up to 433 old order amish females//up to 592 old order amish males EFO_1000627 N/A Associate Thyroid hormone levels rs9497965-T of NONHSAT211278.1 is significantly associated with the thyroid hormone levels by using GWAS analysis in up to 14,459 european ancestry females//up to 10,936 european ancestry males//up to 433 old order amish females//up to 592 old order amish males(p-value = 2E-8 ;OR = 0.051). 0.4 A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function. genome-wide association analysis NONHSAT211278.1 lncRNA Thyroid disease 0.33 GCAAATATAG(C > T)AGTTGTGACT chr6: 148200156 0.6288,0.3712 0.59523126911314984,0.40476873088685015 Region score:0.33; TSS score:0.26; Unmatched score:0.07; Average GERP:-1.1270329702970294 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003420 24952745 NONHSAT081876.2 rs1805128 T N/A up to 70,389 european ancestry individuals//up to 672 orcadian individuals; up to 33,316 european ancestry individuals EFO_0004278 N/A Associate Qt interval rs1805128-T of NONHSAT081876.2 is significantly associated with the qt interval by using GWAS analysis in up to 70,389 european ancestry individuals//up to 672 orcadian individuals; up to 33,316 european ancestry individuals(p-value = 2E-18 ;OR = 7.42). 0.4 Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization. genome-wide association analysis NONHSAT081876.2 lncRNA Sudden cardiac arrest 0.33 TGCCAGGCAT(C > T)GGACTCGATG chr21: 34449382 N/A 1 Region score:0.25; TSS score:0.38; Unmatched score:0.43; Average GERP:2.684732673267326 GeneName:KCNE1; CADD-Score:7; Consquence:missense; GeneID:ENSG00000180509; TranscriptID:ENST00000337385; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003421 27863252 NONHSAT158283.1 rs182049218 T N/A 171,748 european ancestry individuals EFO_0007993 N/A Associate Lymphocyte percentage of white cells rs182049218-T of NONHSAT158283.1 is significantly associated with the lymphocyte percentage of white cells by using GWAS analysis in 171,748 european ancestry individuals(p-value = 1E-9 ;OR = 0.0626506). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT158283.1 lncRNA Lymphocyte percentage of leukocytes 0.33 TGCAGCTAGC(C > T)GAGATCACGC chr10: 70572970 0.988,0.01198 0.97288321865443425,0.02711678134556574 Region score:0.26; TSS score:0.15; Unmatched score:0.07; Average GERP:-0.10835000000000003 GeneName:PALD1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000107719; TranscriptID:ENST00000263563; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003422 27863252 NONHSAT220330.1 rs2810491 C N/A 166,066 european ancestry individuals EFO_0004309 N/A Associate Platelet count rs2810491-C of NONHSAT220330.1 is significantly associated with the platelet count by using GWAS analysis in 166,066 european ancestry individuals(p-value = 2E-21 ;OR = 0.03988658). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT220330.1 lncRNA Platelet count 0.33 TGCAAGGACA(T > C)TCTGGGGGCC chr9: 134058209 0.6464,0.3536 0.73845247196738022,0.26154752803261977 Region score:0.27; TSS score:0.3; Unmatched score:0.56; Average GERP:-0.9506217821782177 GeneName:AL445931.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000235138; TranscriptID:ENST00000412181; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:BRD3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000169925; TranscriptID:ENST00000303407; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003423 20205591 NONHSAT125479.2 rs4872511 ? N/A 515 african american cases EFO_0000180 N/A Associate Hiv-1 viral setpoint rs4872511-? of NONHSAT125479.2 is significantly associated with the hiv-1 viral setpoint by using GWAS analysis in 515 african american cases(p-value = 9E-6 ;OR = ?). 0.4 Host determinants of HIV-1 control in African Americans. genome-wide association analysis NONHSAT125479.2 lncRNA Hiv-1 infection 0.33 TAGTGACATA(C > T)ATATCACAGG chr8: 22543476 0.9712,0.02875 0.98799057084607543,0.01200942915392456 Region score:0.44; TSS score:0.23; Unmatched score:0.46; Average GERP:0.311583861386139 GeneName:AC037459.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000251034; TranscriptID:ENST00000514980; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PPP3CC; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000120910; TranscriptID:ENST00000397775; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SORBS3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000120896; TranscriptID:ENST00000523941; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003424 28443625 NONHSAT208090.1 rs13201877 A N/A 98,173 european ancestry women//64,373 european ancestry men//5,829 european ancestry individuals//10,500 african american/afro-caribbean ancestry women//2,706 african american/afro-caribbean ancestry men//1,030 indian asian ancestry women//7,648 indian asian ancestry men//1,793 filipino ancestry women//2,944 hispanic/latino ancestry women//1,764 hispanic/latino ancestry men; 21,496 european ancestry women//24,385 european ancestry men//118,364 european ancestry individuals//2,326 african american/afro-caribbean ancestry women//855 african american/afro-caribbean ancestry men EFO_0001073 adjusted for smoking behaviour Associate Bmi (adjusted for smoking behaviour) rs13201877-A of NONHSAT208090.1 is significantly associated with the bmi (adjusted for smoking behaviour) by using GWAS analysis in 98,173 european ancestry women//64,373 european ancestry men//5,829 european ancestry individuals//10,500 african american/afro-caribbean ancestry women//2,706 african american/afro-caribbean ancestry men//1,030 indian asian ancestry women//7,648 indian asian ancestry men//1,793 filipino ancestry women//2,944 hispanic/latino ancestry women//1,764 hispanic/latino ancestry men; 21,496 european ancestry women//24,385 european ancestry men//118,364 european ancestry individuals//2,326 african american/afro-caribbean ancestry women//855 african american/afro-caribbean ancestry men(p-value = 5E-6 ;OR = 0.0221). 0.4 Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits. genome-wide association analysis NONHSAT208090.1 lncRNA Obesity 0.451 CCTTGGAAAA(A > G)CAAGTCAGAA chr6: 137354404 0.9353,0.0647 0.90172655453618756,0.09827344546381243 Region score:0.51; TSS score:0.57; Unmatched score:0.25; Average GERP:0.09019306930693068 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000806844; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003424 25673413 NONHSAT208090.1 rs13201877 G N/A up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals EFO_0001073 N/A Associate Body mass index rs13201877-G of NONHSAT208090.1 is significantly associated with the body mass index by using GWAS analysis in up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals(p-value = 2E-7 ;OR = 0.023). 0.4 Genetic studies of body mass index yield new insights for obesity biology. genome-wide association analysis NONHSAT208090.1 lncRNA Obesity 0.451 CCTTGGAAAA(A > G)CAAGTCAGAA chr6: 137354404 0.9353,0.0647 0.90172655453618756,0.09827344546381243 Region score:0.51; TSS score:0.57; Unmatched score:0.25; Average GERP:0.09019306930693068 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000806844; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003425 27117709 NONHSAT211293.1 rs11155804 ? N/A 4,939 european ancestry cases//14,352 european ancestry controls; 7,333 european ancestry cases//42,468 european ancestry controls EFO_1000650 N/A Associate Breast cancer (estrogen-receptor negative) rs11155804-? of NONHSAT211293.1 is significantly associated with the breast cancer (estrogen-receptor negative) by using GWAS analysis in 4,939 european ancestry cases//14,352 european ancestry controls; 7,333 european ancestry cases//42,468 european ancestry controls(p-value = 8E-18 ;OR = 1.16). 0.4 Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer. genome-wide association analysis NONHSAT211293.1 lncRNA Estrogen-receptor negative breast cancer 0.33 AAAGAAAGAG(T > A)GAGAGAAAGA chr6: 151625017 0.6591,0.3409 0.64162844036697247,0.35837155963302752 Region score:0.35; TSS score:0.29; Unmatched score:0.08; Average GERP:-0.3533350515463919 GeneName:CCDC170; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000120262; TranscriptID:ENST00000239374; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003426 21139019 NONHSAT103660.2 rs10089 ? N/A 239 european ancestry cases//107 european ancestry controls EFO_0004243 N/A Associate Ileal carcinoids rs10089-? of NONHSAT103660.2 is significantly associated with the ileal carcinoids by using GWAS analysis in 239 european ancestry cases//107 european ancestry controls(p-value = 2E-6 ;OR = 2.56). 0.4 A pilot genome-wide association study shows genomic variants enriched in the non-tumor cells of patients with well-differentiated neuroendocrine tumors of the ileum. genome-wide association analysis NONHSAT103660.2 lncRNA Carcinoid tumor 0.33 TGATTCTTCT(C > T)TGTTGAACTG chr5: 128186851 0.756,0.244 0.77978465851172273,0.22021534148827726 Region score:0.66; TSS score:0.92; Unmatched score:0.93; Average GERP:2.400055445544556 GeneName:SLC12A2; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000064651; TranscriptID:ENST00000262461; AnnoType:3PRIME_UTR; mirSVR-Score:-0.6818; mirSVR-E:-11.58 | NCRV0000003427 28540026 NONHSAT108251.2 rs61747867 T N/A up to 6,197 european ancestry asd cases//up to 7,377 european ancestry controls//up to 1,190 asd cases//up to 1,190 controls EFO_0003756 N/A Associate Autism spectrum disorder rs61747867-T of NONHSAT108251.2 is significantly associated with the autism spectrum disorder by using GWAS analysis in up to 6,197 european ancestry asd cases//up to 7,377 european ancestry controls//up to 1,190 asd cases//up to 1,190 controls(p-value = 2E-9 ;OR = 1.08). 0.4 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. genome-wide association analysis NONHSAT108251.2 lncRNA Autism spectrum disorder 0.33 GCGTCGGGGG(G > A,C,T)TGACGCGGGT chr6: 26272320 0.8878,.,.,0.1122 0.85471616972477064,.,0.00001592762487257,0.14526790265035677 Region score:0.54; TSS score:0.69; Unmatched score:0.88; Average GERP:3.0230792079207913 GeneName:HIST1H2APS4; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000218690; TranscriptID:ENST00000362070; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HIST1H2BI; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000278588; TranscriptID:ENST00000377733; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HIST1H3G; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000273983; TranscriptID:ENST00000614378; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000195013; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003428 26634245 NONHSAT023893.2 rs569444 A N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio rs569444-A of NONHSAT023893.2 is significantly associated with the post bronchodilator fev1/fvc ratio by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 2E-7 ;OR = 0.016). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT023893.2 lncRNA Pulmonary function measurement 0.33 TTCTGCTTCC(G > A)ATCAGATAAA chr11: 102836574 0.9251,0.07488 0.91065398827726809,0.08934601172273190 Region score:0.51; TSS score:0.45; Unmatched score:0.63; Average GERP:-0.2576495049504947 GeneName:MMP3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000149968; TranscriptID:ENST00000299855; AnnoType:INTRONIC; mirSVR-Score:-0.0137; mirSVR-E:-10.28 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000440650; AnnoType:REGULATORY; mirSVR-Score:-0.0137; mirSVR-E:-10.28 | GeneName:WTAPP1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000255282; TranscriptID:ENST00000525739; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0137; mirSVR-E:-10.28 | NCRV0000003429 23770605 NONHSAT217438.1 rs2511714 G N/A 2,179 european ancestry cases//6,221 european ancestry controls; 1,709 european ancestry cases//6,318 european ancestry controls EFO_0000095 N/A Associate Chronic lymphocytic leukemia rs2511714-G of NONHSAT217438.1 is significantly associated with the chronic lymphocytic leukemia by using GWAS analysis in 2,179 european ancestry cases//6,221 european ancestry controls; 1,709 european ancestry cases//6,318 european ancestry controls(p-value = 5E-8 ;OR = 1.19). 0.4 Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia. genome-wide association analysis NONHSAT217438.1 lncRNA Chronic lymphocytic leukemia 0.451 ACCAGGCAGG(T > G)TGCTTGAAAT chr8: 102566646 0.6871,0.3129 0.60219960499490316,0.39780039500509683 Region score:0.32; TSS score:0.36; Unmatched score:0.28; Average GERP:-0.29906752475247533 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000864445; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003429 26956414 NONHSAT217438.1 rs2511714 G N/A 3,100 european ancestry cases//7,667 european ancestry controls; 1,958 cases// 5,530 controls EFO_0000095 N/A Associate Chronic lymphocytic leukemia rs2511714-G of NONHSAT217438.1 is significantly associated with the chronic lymphocytic leukemia by using GWAS analysis in 3,100 european ancestry cases//7,667 european ancestry controls; 1,958 cases// 5,530 controls(p-value = 2E-7 ;OR = 1.19). 0.4 Meta-analysis of genome-wide association studies discovers multiple loci for chronic lymphocytic leukemia. genome-wide association analysis NONHSAT217438.1 lncRNA Chronic lymphocytic leukemia 0.451 ACCAGGCAGG(T > G)TGCTTGAAAT chr8: 102566646 0.6871,0.3129 0.60219960499490316,0.39780039500509683 Region score:0.32; TSS score:0.36; Unmatched score:0.28; Average GERP:-0.29906752475247533 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000864445; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003430 28240269 NONHSAT221416.1 rs7857390 A N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0008312 N/A Associate Blood protein levels rs7857390-A of NONHSAT221416.1 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 6E-11 ;OR = 0.2949). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. genome-wide association analysis NONHSAT221416.1 lncRNA Tyrosine-protein kinase receptor tie-1, soluble measurement 0.33 TCCACTTCCA(A > G)GCAAGGTAGA chr9: 133253159 0.3095,0.6905 0.32677115188583078,0.67322884811416921 Region score:0.19; TSS score:0.33; Unmatched score:0.23; Average GERP:0.10477227722772273 GeneName:ABO; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000175164; TranscriptID:ENST00000538324; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003431 23251661 NONHSAT172439.1 rs744738 A N/A 815 hispanic children from 263 families EFO_0004684 N/A Associate Obesity-related traits rs744738-A of NONHSAT172439.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 6E-6 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. genome-wide association analysis NONHSAT172439.1 lncRNA Tumor necrosis factor-alpha measurement 0.33 GATTAGTAGA(G > A)ATTGAGATGT chr15: 95829400 0.8476,0.1524 0.91196005351681957,0.08803994648318042 Region score:0.41; TSS score:0.35; Unmatched score:0.2; Average GERP:-0.14910297029702976 GeneName:AC015574.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000275016; TranscriptID:ENST00000612595; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000526664; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000526665; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003432 27622933 NONHSAT190968.1 rs190544851 ? N/A 1,311 european ancestry non-responder cases//192,178 european ancestry healthy controls EFO_0003761 antidepressants Associate Non-response to antidepressants and depression rs190544851-? of NONHSAT190968.1 is significantly associated with the non-response to antidepressants and depression by using GWAS analysis in 1,311 european ancestry non-responder cases//192,178 european ancestry healthy controls(p-value = 3E-7 ;OR = 14.29). 0.4 Analysis of 23andMe antidepressant efficacy survey data: implication of circadian rhythm and neuroplasticity in bupropion response. genome-wide association analysis NONHSAT190968.1 lncRNA Unipolar depression 0.33 CCTGGGGCAC(T > G)CCAGCATGTG chr21: 38360474 0.9978,0.002196 0.99621718909276248,0.00378281090723751 Region score:0.35; TSS score:0.23; Unmatched score:0.01; Average GERP:-0.3863534653465351 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003433 27863252 NONHSAT154780.1 rs58653258 C N/A 169,545 european ancestry individuals EFO_0007997 N/A Associate Granulocyte percentage of myeloid white cells rs58653258-C of NONHSAT154780.1 is significantly associated with the granulocyte percentage of myeloid white cells by using GWAS analysis in 169,545 european ancestry individuals(p-value = 4E-10 ;OR = 0.03826984). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT154780.1 lncRNA Granulocyte percentage of myeloid white cells 0.33 AGTGGAACAG(T > C)CTTGTTCAAA chr1: 234855153 0.9393,0.0607 0.92476586391437308,0.07523413608562691 Region score:0.42; TSS score:0.2; Unmatched score:0.09; Average GERP:-0.1894277227722771 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003434 23001122 NONHSAT173881.1 rs3803662 ? N/A 823 european ancestry cases//2,795 european ancestry controls; 438 european ancestry cases//474 european ancestry controls EFO_0000305 N/A Associate Breast cancer (male) rs3803662-? of NONHSAT173881.1 is significantly associated with the breast cancer (male) by using GWAS analysis in 823 european ancestry cases//2,795 european ancestry controls; 438 european ancestry cases//474 european ancestry controls(p-value = 4E-15 ;OR = 1.5). 0.4 Genome-wide association study identifies a common variant in RAD51B associated with male breast cancer risk. genome-wide association analysis NONHSAT173881.1 lncRNA Breast cancer 0.69 CTTCGCTAAG(A > G)GACAGCTATA chr16: 52552429 0.4403,0.5597 0.38320272680937818,0.61679727319062181 Region score:0.42; TSS score:0.54; Unmatched score:0.66; Average GERP:1.469700693069307 GeneName:CASC16; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000249231; TranscriptID:ENST00000510238; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TOX3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000103460; TranscriptID:ENST00000407228; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003434 19330030 NONHSAT173881.1 rs3803662 T N/A 1,145 european ancestry cases//1,142 european ancestry controls; 8,625 european ancestry cases//9,657 european ancestry controls EFO_0000305 N/A Associate Breast cancer rs3803662-T of NONHSAT173881.1 is significantly associated with the breast cancer by using GWAS analysis in 1,145 european ancestry cases//1,142 european ancestry controls; 8,625 european ancestry cases//9,657 european ancestry controls(p-value = 1E-9 ;OR = 1.16). 0.4 A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1). genome-wide association analysis NONHSAT173881.1 lncRNA Breast cancer 0.69 CTTCGCTAAG(A > G)GACAGCTATA chr16: 52552429 0.4403,0.5597 0.38320272680937818,0.61679727319062181 Region score:0.42; TSS score:0.54; Unmatched score:0.66; Average GERP:1.469700693069307 GeneName:CASC16; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000249231; TranscriptID:ENST00000510238; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TOX3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000103460; TranscriptID:ENST00000407228; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003434 23535733 NONHSAT173881.1 rs3803662 T N/A 4,193 european ancestry cases//35,194 european ancestry controls; 6,514 european ancestry cases//41,455 european ancestry controls EFO_0000305 N/A Associate Breast cancer rs3803662-T of NONHSAT173881.1 is significantly associated with the breast cancer by using GWAS analysis in 4,193 european ancestry cases//35,194 european ancestry controls; 6,514 european ancestry cases//41,455 european ancestry controls(p-value = 6E-13 ;OR = 1.14). 0.4 Genome-wide association studies identify four ER negative-specific breast cancer risk loci. genome-wide association analysis NONHSAT173881.1 lncRNA Breast cancer 0.69 CTTCGCTAAG(A > G)GACAGCTATA chr16: 52552429 0.4403,0.5597 0.38320272680937818,0.61679727319062181 Region score:0.42; TSS score:0.54; Unmatched score:0.66; Average GERP:1.469700693069307 GeneName:CASC16; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000249231; TranscriptID:ENST00000510238; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TOX3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000103460; TranscriptID:ENST00000407228; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003434 17529967 NONHSAT173881.1 rs3803662 T N/A 390 european ancestry cases//364 european ancestry controls; 4,364 east asian ancestry cases//24,174 european ancestry controls//3,564 east asian ancestry controls//24,391 european ancestry controls EFO_0000305 N/A Associate Breast cancer rs3803662-T of NONHSAT173881.1 is significantly associated with the breast cancer by using GWAS analysis in 390 european ancestry cases//364 european ancestry controls; 4,364 east asian ancestry cases//24,174 european ancestry controls//3,564 east asian ancestry controls//24,391 european ancestry controls(p-value = 1E-36 ;OR = 1.2). 0.4 Genome-wide association study identifies novel breast cancer susceptibility loci. genome-wide association analysis NONHSAT173881.1 lncRNA Breast cancer 0.69 CTTCGCTAAG(A > G)GACAGCTATA chr16: 52552429 0.4403,0.5597 0.38320272680937818,0.61679727319062181 Region score:0.42; TSS score:0.54; Unmatched score:0.66; Average GERP:1.469700693069307 GeneName:CASC16; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000249231; TranscriptID:ENST00000510238; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TOX3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000103460; TranscriptID:ENST00000407228; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003434 20872241 NONHSAT173881.1 rs3803662 A N/A 2,702 european ancestry female cases//5,726 european ancestry controls; up to 7,386 cases//7,576 controls EFO_0000305 N/A Associate Breast cancer rs3803662-A of NONHSAT173881.1 is significantly associated with the breast cancer by using GWAS analysis in 2,702 european ancestry female cases//5,726 european ancestry controls; up to 7,386 cases//7,576 controls(p-value = 4E-7 ;OR = 1.22). 0.4 A combined analysis of genome-wide association studies in breast cancer. genome-wide association analysis NONHSAT173881.1 lncRNA Breast cancer 0.69 CTTCGCTAAG(A > G)GACAGCTATA chr16: 52552429 0.4403,0.5597 0.38320272680937818,0.61679727319062181 Region score:0.42; TSS score:0.54; Unmatched score:0.66; Average GERP:1.469700693069307 GeneName:CASC16; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000249231; TranscriptID:ENST00000510238; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TOX3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000103460; TranscriptID:ENST00000407228; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003434 24143190 NONHSAT173881.1 rs3803662 T N/A 2,642 japanese ancestry cases//2,099 japanese ancestry controls; 2,885 japanese ancestry cases//3,395 japanese ancestry controls EFO_0000305 N/A Associate Breast cancer rs3803662-T of NONHSAT173881.1 is significantly associated with the breast cancer by using GWAS analysis in 2,642 japanese ancestry cases//2,099 japanese ancestry controls; 2,885 japanese ancestry cases//3,395 japanese ancestry controls(p-value = 3E-11 ;OR = 1.213). 0.4 Genome-wide association study of breast cancer in the Japanese population. genome-wide association analysis NONHSAT173881.1 lncRNA Breast cancer 0.69 CTTCGCTAAG(A > G)GACAGCTATA chr16: 52552429 0.4403,0.5597 0.38320272680937818,0.61679727319062181 Region score:0.42; TSS score:0.54; Unmatched score:0.66; Average GERP:1.469700693069307 GeneName:CASC16; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000249231; TranscriptID:ENST00000510238; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TOX3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000103460; TranscriptID:ENST00000407228; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003434 20453838 NONHSAT173881.1 rs3803662 A N/A 3,659 european ancestry cases//4,897 european ancestry controls; 12,576 european ancestry cases//12,223 european ancestry controls EFO_0000305 N/A Associate Breast cancer rs3803662-A of NONHSAT173881.1 is significantly associated with the breast cancer by using GWAS analysis in 3,659 european ancestry cases//4,897 european ancestry controls; 12,576 european ancestry cases//12,223 european ancestry controls(p-value = 3E-15 ;OR = 1.3). 0.4 Genome-wide association study identifies five new breast cancer susceptibility loci. genome-wide association analysis NONHSAT173881.1 lncRNA Breast cancer 0.69 CTTCGCTAAG(A > G)GACAGCTATA chr16: 52552429 0.4403,0.5597 0.38320272680937818,0.61679727319062181 Region score:0.42; TSS score:0.54; Unmatched score:0.66; Average GERP:1.469700693069307 GeneName:CASC16; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000249231; TranscriptID:ENST00000510238; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TOX3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000103460; TranscriptID:ENST00000407228; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003434 23535729 NONHSAT173881.1 rs3803662 A N/A 10,052 european ancestry cases//12,575 european ancestry controls; 45,290 european ancestry cases//41,880 european ancestry controls EFO_0000305 N/A Associate Breast cancer rs3803662-A of NONHSAT173881.1 is significantly associated with the breast cancer by using GWAS analysis in 10,052 european ancestry cases//12,575 european ancestry controls; 45,290 european ancestry cases//41,880 european ancestry controls(p-value = 2E-114 ;OR = 1.24). 0.4 Large-scale genotyping identifies 41 new loci associated with breast cancer risk. genome-wide association analysis NONHSAT173881.1 lncRNA Breast cancer 0.69 CTTCGCTAAG(A > G)GACAGCTATA chr16: 52552429 0.4403,0.5597 0.38320272680937818,0.61679727319062181 Region score:0.42; TSS score:0.54; Unmatched score:0.66; Average GERP:1.469700693069307 GeneName:CASC16; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000249231; TranscriptID:ENST00000510238; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TOX3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000103460; TranscriptID:ENST00000407228; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003434 17529974 NONHSAT173881.1 rs3803662 T N/A 1,599 european ancestry cases//11,546 european ancestry controls; 2,954 european ancestry cases//5,967 european ancestry controls//up to 561 japanese ancestry cases//up to 565 japanese ancestry control//up to 422 african american cases//up to 448 african american controls//up to 418 hispanic cases//up to 422 hispanic controls//up to 148 cases//up to 293 controls EFO_0000305 N/A Associate Breast cancer rs3803662-T of NONHSAT173881.1 is significantly associated with the breast cancer by using GWAS analysis in 1,599 european ancestry cases//11,546 european ancestry controls; 2,954 european ancestry cases//5,967 european ancestry controls//up to 561 japanese ancestry cases//up to 565 japanese ancestry control//up to 422 african american cases//up to 448 african american controls//up to 418 hispanic cases//up to 422 hispanic controls//up to 148 cases//up to 293 controls(p-value = 6E-19 ;OR = 1.28). 0.4 Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer. genome-wide association analysis NONHSAT173881.1 lncRNA Breast cancer 0.69 CTTCGCTAAG(A > G)GACAGCTATA chr16: 52552429 0.4403,0.5597 0.38320272680937818,0.61679727319062181 Region score:0.42; TSS score:0.54; Unmatched score:0.66; Average GERP:1.469700693069307 GeneName:CASC16; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000249231; TranscriptID:ENST00000510238; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TOX3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000103460; TranscriptID:ENST00000407228; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003434 25751625 NONHSAT173881.1 rs3803662 A N/A 15,748 european ancestry cases//18,084 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls EFO_0000305 N/A Associate Breast cancer rs3803662-A of NONHSAT173881.1 is significantly associated with the breast cancer by using GWAS analysis in 15,748 european ancestry cases//18,084 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls(p-value = 4E-117 ;OR = 1.24). 0.4 Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer. genome-wide association analysis NONHSAT173881.1 lncRNA Breast cancer 0.69 CTTCGCTAAG(A > G)GACAGCTATA chr16: 52552429 0.4403,0.5597 0.38320272680937818,0.61679727319062181 Region score:0.42; TSS score:0.54; Unmatched score:0.66; Average GERP:1.469700693069307 GeneName:CASC16; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000249231; TranscriptID:ENST00000510238; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TOX3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000103460; TranscriptID:ENST00000407228; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003435 23670970 NONHSAT154486.1 rs4077468 A N/A 644 cystic fibrosis-related diabetes cases//2,415 cystic fibrosis controls; 124 cystic fibrosis-related diabetes cases//570 cystic fibrosis controls EFO_0001360 N/A Associate Cystic fibrosis-related diabetes rs4077468-A of NONHSAT154486.1 is significantly associated with the cystic fibrosis-related diabetes by using GWAS analysis in 644 cystic fibrosis-related diabetes cases//2,415 cystic fibrosis controls; 124 cystic fibrosis-related diabetes cases//570 cystic fibrosis controls(p-value = 1E-9 ;OR = 1.39). 0.4 Genetic modifiers of cystic fibrosis-related diabetes. genome-wide association analysis NONHSAT154486.1 lncRNA Type ii diabetes mellitus 0.33 GAAATCACTT(A > G)TCCAAGATCA chr1: 205945629 0.6418,0.3582 0.65304058358817533,0.34695941641182466 Region score:0.27; TSS score:0.43; Unmatched score:0.46; Average GERP:0.07949207920792074 GeneName:SLC26A9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000174502; TranscriptID:ENST00000367134; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003436 28957384 NONHSAT098927.2 rs115005126 C N/A 1,421 european ancestry cases//154 hispanic/latino cases//121 east asian ancestry cases//81,843 european ancestry controls//8,406 hispanic/latino controls//7,397 east asian ancestry controls EFO_1002021 N/A Associate Ankle injury rs115005126-C of NONHSAT098927.2 is significantly associated with the ankle injury by using GWAS analysis in 1,421 european ancestry cases//154 hispanic/latino cases//121 east asian ancestry cases//81,843 european ancestry controls//8,406 hispanic/latino controls//7,397 east asian ancestry controls(p-value = 7E-6 ;OR = 1.7271). 0.4 Two genetic loci associated with ankle injury. genome-wide association analysis NONHSAT098927.2 lncRNA Ankle injury 0.33 GATCATAGAG(T > C)AGACAGCCTG chr4: 155463483 0.9904,0.009585 0.98634206167176350,0.01365793832823649 Region score:0.41; TSS score:0.09; Unmatched score:0.49; Average GERP:-0.1397227722772276 GeneName:MTATP6P9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000248420; TranscriptID:ENST00000515039; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MTCO1P9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000251223; TranscriptID:ENST00000505577; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MTCO2P9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000249386; TranscriptID:ENST00000503214; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MTND1P22; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000251407; TranscriptID:ENST00000510572; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MTND2P33; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000248907; TranscriptID:ENST00000506452; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000175140; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003437 26733130 NONHSAT208011.1 rs577721086 C N/A up to 20,132 european ancestry individuals; 10,092 european and east asian ancestry individuals EFO_0007701 N/A Associate Bone mineral density (spine) rs577721086-C of NONHSAT208011.1 is significantly associated with the bone mineral density (spine) by using GWAS analysis in up to 20,132 european ancestry individuals; 10,092 european and east asian ancestry individuals(p-value = 7E-10 ;OR = 0.137). 0.4 Sequence variants in the PTCH1 gene associate with spine bone mineral density and osteoporotic fractures. genome-wide association analysis NONHSAT208011.1 lncRNA Spine bone mineral density 0.33 ACATGCTACC(T > C)GCGGCCGCCC chr6: 127118902 0.9866,0.01338 0.97171253822629969,0.02828746177370030 N/A GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000202388; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000804611; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RSPO3; CADD-Score:3; Consquence:5_prime_UTR; GeneID:ENSG00000146374; TranscriptID:ENST00000356698; AnnoType:5PRIME_UTR; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003438 23870195 NONHSAT178942.1 rs10502575 A N/A 5,823 african american individuals; 9,992 european ancestry individuals EFO_0004723 N/A Associate Coronary artery calcification rs10502575-A of NONHSAT178942.1 is significantly associated with the coronary artery calcification by using GWAS analysis in 5,823 african american individuals; 9,992 european ancestry individuals(p-value = 1E-7 ;OR = 0.22). 0.4 Genetics of coronary artery calcification among African Americans, a meta-analysis. genome-wide association analysis NONHSAT178942.1 lncRNA Coronary artery calcification 0.33 AGGTAATTAT(A > G)TATACGAACG chr18: 31756628 0.9345,0.0655 0.93151917686034658,0.06848082313965341 Region score:0.24; TSS score:0.14; Unmatched score:0.08; Average GERP:-0.012532000000000026 GeneName:SLC25A52; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000141437; TranscriptID:ENST00000269205; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003439 19862010 NONHSAT184699.1 rs2540917 C N/A 24,167 european ancestry individuals; 9,456 european ancestry individuals EFO_0004526 N/A Associate Mean corpuscular volume rs2540917-C of NONHSAT184699.1 is significantly associated with the mean corpuscular volume by using GWAS analysis in 24,167 european ancestry individuals; 9,456 european ancestry individuals(p-value = 1E-14 ;OR = 0.0). 0.4 Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. genome-wide association analysis NONHSAT184699.1 lncRNA Mean corpuscular volume 0.33 TTCAGGGGCC(T > C)AGAGATTGCC chr2: 60381624 0.8335,0.1665 0.72735888124362895,0.27264111875637104 Region score:0.19; TSS score:0.11; Unmatched score:0.12; Average GERP:0.1620396039603961 GeneName:MIR4432HG; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000228590; TranscriptID:ENST00000441598; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RNU1-32P; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000200807; TranscriptID:ENST00000363937; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003440 25281659 NONHSAT198353.1 rs1380294 T N/A 28,238 european ancestry individuals EFO_0006785 N/A Associate Infant length rs1380294-T of NONHSAT198353.1 is significantly associated with the infant length by using GWAS analysis in 28,238 european ancestry individuals(p-value = 3E-14 ;OR = 0.108). 0.4 A novel common variant in DCST2 is associated with length in early life and height in adulthood. genome-wide association analysis NONHSAT198353.1 lncRNA Infant body height 0.33 CTGCGCTTTG(C > T)GTTTTAAGTG chr4: 18022498 0.7358,0.2642 0.74913990825688073,0.25086009174311926 Region score:0.45; TSS score:0.51; Unmatched score:0.94; Average GERP:-0.3197326732673268 GeneName:LCORL; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000178177; TranscriptID:ENST00000382226; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000166457; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000718722; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003441 23382691 NONHSAT170386.1 rs2614463 T N/A 2,247 european ancestry individuals EFO_0002690 N/A Associate Igg glycosylation rs2614463-T of NONHSAT170386.1 is significantly associated with the igg glycosylation by using GWAS analysis in 2,247 european ancestry individuals(p-value = 7E-6 ;OR = 0.1731). 0.4 Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. genome-wide association analysis NONHSAT170386.1 lncRNA Systemic lupus erythematosus 0.33 CCCTCGCCAG(A > T)TGGTGATTTC chr14: 99279937 0.8183,0.1817 0.71757931957186544,0.28242068042813455 Region score:0.44; TSS score:0.41; Unmatched score:0.18; Average GERP:-2.112544554455446 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003442 20339536 NONHSAT218025.1 rs10091038 A N/A 3,928 european ancestry individuals GO_0036273 N/A Associate Response to statin therapy rs10091038-A of NONHSAT218025.1 is significantly associated with the response to statin therapy by using GWAS analysis in 3,928 european ancestry individuals(p-value = 3E-8 ;OR = ?). 0.4 Genome-wide association of lipid-lowering response to statins in combined study populations. genome-wide association analysis NONHSAT218025.1 lncRNA Response to statin 0.33 ATCTCCAATT(A > C)TGTCTTCCCC chr8: 29502788 0.3672,0.6328 0.43567628695208970,0.56432371304791029 Region score:0.45; TSS score:0.41; Unmatched score:0.17; Average GERP:-0.18350495049504945 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003443 26634245 NONHSAT047598.2 rs3971860 A N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs3971860-A of NONHSAT047598.2 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 2E-7 ;OR = 0.082). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT047598.2 lncRNA Pulmonary function measurement 0.33 AGGGCCCGGC(A > G,T)GCAGGAGAGG chr15: 78733936 0.7065,0.2935,. 0.66073362640163098,0.33925840978593272,0.00000796381243628 Region score:0.27; TSS score:0.36; Unmatched score:0.43; Average GERP:0.10087524752475248 GeneName:AC022748.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000261303; TranscriptID:ENST00000564933; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003444 28739976 NONHSAT189066.1 rs6015450 G N/A 150,134 european ancestry individuals; 87,359 european ancestry individuals//140,886 european and unknown ancestry individuals EFO_0000319 N/A Associate Systolic blood pressure rs6015450-G of NONHSAT189066.1 is significantly associated with the systolic blood pressure by using GWAS analysis in 150,134 european ancestry individuals; 87,359 european ancestry individuals//140,886 european and unknown ancestry individuals(p-value = 4E-13 ;OR = 0.802). 0.4 Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.LID - HYPERTENSIONAHA.117.09438 [pii]LID - 10.1161/HYPERTENSIONAHA.117.09438 [doi]AB - Elevated blood pressure genome-wide association analysis NONHSAT189066.1 lncRNA Cardiovascular disease 0.451 GGAATGCCTT(A > G)TTATTGCCTC chr20: 59176062 0.9022,0.09784 0.86678930937818552,0.13321069062181447 Region score:0.39; TSS score:0.18; Unmatched score:0.12; Average GERP:-0.6414472277227723 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000656350; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ZNF831; CADD-Score:2; Consquence:intron; GeneID:ENSG00000124203; TranscriptID:ENST00000637017; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003444 21909115 NONHSAT189066.1 rs6015450 G N/A 69,395 european ancestry individuals; up to 133,361 european ancestry individuals EFO_0000319 N/A Associate Systolic blood pressure rs6015450-G of NONHSAT189066.1 is significantly associated with the systolic blood pressure by using GWAS analysis in 69,395 european ancestry individuals; up to 133,361 european ancestry individuals(p-value = 4E-23 ;OR = 0.896). 0.4 Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. genome-wide association analysis NONHSAT189066.1 lncRNA Cardiovascular disease 0.451 GGAATGCCTT(A > G)TTATTGCCTC chr20: 59176062 0.9022,0.09784 0.86678930937818552,0.13321069062181447 Region score:0.39; TSS score:0.18; Unmatched score:0.12; Average GERP:-0.6414472277227723 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000656350; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ZNF831; CADD-Score:2; Consquence:intron; GeneID:ENSG00000124203; TranscriptID:ENST00000637017; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003445 27629089 NONHSAT077717.2 rs473651 A N/A 918 european ancestry cases//3,864 european ancestry controls EFO_1001050 N/A Associate Multiple system atrophy rs473651-A of NONHSAT077717.2 is significantly associated with the multiple system atrophy by using GWAS analysis in 918 european ancestry cases//3,864 european ancestry controls(p-value = 4E-6 ;OR = 1.2820514). 0.4 A genome-wide association study in multiple system atrophy. genome-wide association analysis NONHSAT077717.2 lncRNA Multiple system atrophy 0.33 GCCTCAGGCA(A > C)CGGGCTTTCC chr2: 238426760 0.603,0.397 0.53562213302752293,0.46437786697247706 Region score:0.34; TSS score:0.36; Unmatched score:0.98; Average GERP:-1.013073584158416 GeneName:AC016999.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000229915; TranscriptID:ENST00000447880; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ASB1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000065802; TranscriptID:ENST00000264607; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000132832; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003446 28739976 NONHSAT176422.1 rs2240736 T N/A 150,134 european ancestry individuals; 87,359 european ancestry individuals//140,886 european and unknown ancestry individuals EFO_0000319 N/A Associate Systolic blood pressure rs2240736-T of NONHSAT176422.1 is significantly associated with the systolic blood pressure by using GWAS analysis in 150,134 european ancestry individuals; 87,359 european ancestry individuals//140,886 european and unknown ancestry individuals(p-value = 4E-6 ;OR = 0.389). 0.4 Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.LID - HYPERTENSIONAHA.117.09438 [pii]LID - 10.1161/HYPERTENSIONAHA.117.09438 [doi]AB - Elevated blood pressure genome-wide association analysis NONHSAT176422.1 lncRNA Cardiovascular disease 0.33 GTCTAACCCT(C > T)GTCTTGTTCT chr17: 61408032 0.4315,0.5685 0.33885225535168195,0.66114774464831804 Region score:0.38; TSS score:0.34; Unmatched score:0.71; Average GERP:1.4797257425742576 GeneName:C17orf82; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000187013; TranscriptID:ENST00000623772; AnnoType:UPSTREAM; mirSVR-Score:-0.1371; mirSVR-E:-18.09 | GeneName:TBX2-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000267280; TranscriptID:ENST00000592009; AnnoType:INTRONIC; mirSVR-Score:-0.1371; mirSVR-E:-18.09 | GeneName:TBX2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000121068; TranscriptID:ENST00000240328; AnnoType:INTRONIC; mirSVR-Score:-0.1371; mirSVR-E:-18.09 | NCRV0000003447 20041166 NONHSAT210396.1 rs3763313 ? N/A 2,362 european ancestry cases EFO_0000180 N/A Associate Hiv-1 control rs3763313-? of NONHSAT210396.1 is significantly associated with the hiv-1 control by using GWAS analysis in 2,362 european ancestry cases(p-value = 2E-6 ;OR = ?). 0.4 Common genetic variation and the control of HIV-1 in humans. genome-wide association analysis NONHSAT210396.1 lncRNA Hiv-1 infection 0.33 TTTCCAAGAA(A > C)CTACTGCTAG chr6: 32408694 0.7857,0.2143 0.79875445973496432,0.20124554026503567 Region score:0.17; TSS score:0.41; Unmatched score:0.5; Average GERP:-0.5233953465346534 GeneName:BTNL2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000204290; TranscriptID:ENST00000454136; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TSBP1-AS1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000225914; TranscriptID:ENST00000642577; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003448 22778062 SNORD115-8 rs2011153 G N/A N/A function N/A not significant changes in the structure function rs2011153-G of SNORD115-8 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in nan -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD115-8 snoRNA function -0.049 GGGTTGGGTC(A > G)ATGATGAGAA chr15: 25184311 0.7037,0.2963 0.74599420234454638,0.25400579765545361 Region score:0.43; TSS score:0.08; Unmatched score:0.47; Average GERP:-0.11644851485148527 GeneName:SNHG14; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000224078; TranscriptID:ENST00000414175; AnnoType:UPSTREAM; mirSVR-Score:-0.0163; mirSVR-E:-11.72 | GeneName:SNORD115-10; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000201943; TranscriptID:ENST00000365073; AnnoType:UPSTREAM; mirSVR-Score:-0.0163; mirSVR-E:-11.72 | GeneName:SNORD115-6; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000200812; TranscriptID:ENST00000363942; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0163; mirSVR-E:-11.72 | GeneName:SNORD115-7; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000278089; TranscriptID:ENST00000365306; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0163; mirSVR-E:-11.72 | GeneName:SNORD115-8; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000200726; TranscriptID:ENST00000363856; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0163; mirSVR-E:-11.72 | GeneName:SNORD115-9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000199782; TranscriptID:ENST00000362912; AnnoType:UPSTREAM; mirSVR-Score:-0.0163; mirSVR-E:-11.72 | NCRV0000003449 27213290 LINC00673 rs11655237 A dominant replication I (1,222 cases and 1,282 controls) and replication II (1,381 cases and 1,595 controls), and replication III (266 cases with cancer and 330 controls) EFO_0002618 N/A increasing risk pancreatic carcinoma rs11655237-A of LINC00673 and its dysfunction is significantly associated with the increasing risk of Pancreatic carcinoma by using genome-wide association analysis in replication I (1,222 cases and 1,282 controls) and replication II (1,381 cases and 1,595 controls), and replication III (266 cases with cancer and 330 controls) 1.4 Pancreatic cancer risk variant in LINC00673 creates a miR-1231 binding site and interferes with PTPN11 degradation. genome-wide association analysis LINC00673 lncRNA Pancreatic carcinoma 0.753 ACTCTGTATC(C > T)GGCTGGAAGA chr17: 72404025 0.7656,0.2344 0.83446419469928644,0.16553580530071355 Region score:0.57; TSS score:0.62; Unmatched score:0.62; Average GERP:1.1302118811881186 GeneName:LINC00511; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000227036; TranscriptID:ENST00000457958; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000097935; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003450 28259691 HOTAIR rs12826786 T Dominant 143 Iranian BPH patients and 250 normal male controls EFO_0000284 N/A increasing risk benign prostatic hyperplasia rs12826786-T of HOTAIR and its dysfunction is significantly associated with the increasing risk of Benign prostatic hyperplasia by using case-control analysis in 143 Iranian BPH patients and 250 normal male controls 0.4 HOTAIR genetic variants are associated with prostate cancer and benign prostate hyperplasia in an Iranian population. case-control analysis HOTAIR lncRNA Benign prostatic hyperplasia 0.33 GTGAATTAGA(C > T)CTTTATCCTA chr12: 53961717 0.6424,0.3576 0.62241176095820591,0.37758823904179408 Region score:0.26; TSS score:0.59; Unmatched score:0.66; Average GERP:-0.08039504950495045 GeneName:HOTAIR; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000228630; TranscriptID:ENST00000424518; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC12; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000123407; TranscriptID:ENST00000243103; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000052264; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000458640; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01905; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000275589; TranscriptID:ENST00000611210; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01906; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277994; TranscriptID:ENST00000611352; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003451 28112199 NONHSAT185338.1 rs12711846 G N/A 1,842 european ancestry chronic lymphocytic leukemia cases//1,465 european ancestry hodgkin lymphoma cases//3,790 european ancestry multiple myeloma cases//7,324 european ancestry controls EFO_0000183 N/A Associate B-cell malignancies (chronic lymphocytic leukemia//hodgkin lymphoma or multiple myeloma) (pleiotropy) rs12711846-G of NONHSAT185338.1 is significantly associated with the b-cell malignancies (chronic lymphocytic leukemia//hodgkin lymphoma or multiple myeloma) (pleiotropy) by using GWAS analysis in 1,842 european ancestry chronic lymphocytic leukemia cases//1,465 european ancestry hodgkin lymphoma cases//3,790 european ancestry multiple myeloma cases//7,324 european ancestry controls(p-value = 3E-14 ;OR = ?). 0.4 Genome-wide association analysis of chronic lymphocytic leukaemia, Hodgkin lymphoma and multiple myeloma identifies pleiotropic risk loci. genome-wide association analysis NONHSAT185338.1 lncRNA Hodgkins lymphoma 0.33 AACTCTTGTT(A > G)TCTTTGAAAC chr2: 111098716 0.7656,0.2344 0.74310333843017329,0.25689666156982670 Region score:0.16; TSS score:0.23; Unmatched score:0.3; Average GERP:-0.35023831683168344 GeneName:ACOXL-AS1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000204581; TranscriptID:ENST00000376593; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ACOXL; CADD-Score:2; Consquence:intron; GeneID:ENSG00000153093; TranscriptID:ENST00000439055; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR4435-2HG; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000172965; TranscriptID:ENST00000645030; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003452 21978540 miR-146a rs2910164 G N/a 808 cases and 1,101 controls EFO_0000641 N/A Increasing risk Papillary thyroid carcinoma rs2910164-G of miR-146a and its dysfunction is significantly associated with the increasing risk of papillary thyroid carcinoma by using meta-analysis in 808 cases and 1,101 controls. 0.4 The association between common genetic variant of microRNA-146a and cancer susceptibility. meta-analysis hsa-mir-146a miRNA Papillary thyroid cancer 0.451 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 N/A 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003452 23451063 miR-146a rs2910164 GG recessive 753 PTCs, 484 BNs and 760 controls EFO_0000641 N/A poor prognosis papillary thyroid carcinoma rs2910164-GG of hsa-mir-146a and its dysfunction is significantly associated with the increasing risk of Papillary thyroid carcinoma by using case-control analysis in 753 PTCs, 484 BNs and 760 controls 0.4 Association between the rs2910164 polymorphism in pre-Mir-146a sequence and thyroid carcinogenesis. case-control analysis hsa-mir-146a miRNA Papillary thyroid carcinoma 0.451 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 0 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003453 20889312 NONHSAT188523.1 rs6046396 ? N/A 651 european ancestry bipolar cases//1,171 european ancestry schizophrenia cases//2,412 european ancestry controls EFO_0000677 N/A Associate Bipolar disorder and schizophrenia rs6046396-? of NONHSAT188523.1 is significantly associated with the bipolar disorder and schizophrenia by using GWAS analysis in 651 european ancestry bipolar cases//1,171 european ancestry schizophrenia cases//2,412 european ancestry controls(p-value = 4E-7 ;OR = 1.2815). 0.4 A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder. genome-wide association analysis NONHSAT188523.1 lncRNA Mental or behavioural disorder 0.33 TGTTTATGAG(G > A)AGGACGCTAA chr20: 19871859 0.3468,0.6532 0.31476172273190621,0.68523827726809378 Region score:0.32; TSS score:0.27; Unmatched score:0.09; Average GERP:-0.197164693069307 GeneName:RIN2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000132669; TranscriptID:ENST00000432334; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003454 20453842 NONHSAT170965.1 rs17374222 A N/A 5,539 european ancestry cases//20,169 european ancestry controls; 6,768 european ancestry cases//8,806 european ancestry controls EFO_0000685 N/A Associate Rheumatoid arthritis rs17374222-A of NONHSAT170965.1 is significantly associated with the rheumatoid arthritis by using GWAS analysis in 5,539 european ancestry cases//20,169 european ancestry controls; 6,768 european ancestry cases//8,806 european ancestry controls(p-value = 2E-6 ;OR = 1.13). 0.4 Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci. genome-wide association analysis NONHSAT170965.1 lncRNA Rheumatoid arthritis 0.33 CTCGCCCGTG(C > A)AGCCAAGAGG chr15: 69703005 0.4171,0.5829 0.43089003567787971,0.56910996432212028 Region score:0.36; TSS score:0.26; Unmatched score:0.11; Average GERP:-0.5885227722772275 GeneName:DRAIC; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000245750; TranscriptID:ENST00000558941; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003455 26252872 NONHSAT149126.1 rs74852193 G N/A 472 european ancestry cases//47 cases HP_0100543 N/A Associate Cognitive decline rate in late mild cognitive impairment rs74852193-G of NONHSAT149126.1 is significantly associated with the cognitive decline rate in late mild cognitive impairment by using GWAS analysis in 472 european ancestry cases//47 cases(p-value = 7E-8 ;OR = 0.2625). 0.4 Variations in the FRA10AC1 Fragile Site and 15q21 Are Associated with Cerebrospinal Fluid Abeta1-42 Level. genome-wide association analysis NONHSAT149126.1 lncRNA Cognitive impairment 0.33 GTGCCTCTCC(G > A)CAAGAGGCTC chr1: 68698339 0.9788,0.02117 0.96193297655453618,0.03806702344546381 Region score:0.37; TSS score:0.21; Unmatched score:0.06; Average GERP:0.056378376237623734 GeneName:AL033530.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000285407; TranscriptID:ENST00000643361; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003456 23396134 NONHSAT131771.2 rs11145465 A N/A 37,382 european ancestry individuals//3,995 chinese ancestry individuals//2,273 malay ancestry individuals//2,108 indian ancestry individuals HP_0000539 N/A Associate Refractive error rs11145465-A of NONHSAT131771.2 is significantly associated with the refractive error by using GWAS analysis in 37,382 european ancestry individuals//3,995 chinese ancestry individuals//2,273 malay ancestry individuals//2,108 indian ancestry individuals(p-value = 7E-9 ;OR = 0.124). 0.4 Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia. genome-wide association analysis NONHSAT131771.2 lncRNA Abnormality of refraction 0.33 TTACTGTCAT(C > A)TCCCTGTGAG chr9: 69151677 0.8664,0.1336 0.81330434505606523,0.18669565494393476 Region score:0.84; TSS score:0.63; Unmatched score:0.87; Average GERP:1.4683366336633665 GeneName:AL358113.1; CADD-Score:7; Consquence:missense; GeneID:ENSG00000285130; TranscriptID:ENST00000642889; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TJP2; CADD-Score:3; Consquence:5_prime_UTR; GeneID:ENSG00000119139; TranscriptID:ENST00000453658; AnnoType:5PRIME_UTR; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003457 23555923 hsa-mir-149 rs2292832 C N/A 191 patients with TNBC and 192 healthy female controls EFO_0005537 N/A no significance for risk triple-negative breast cancer rs2292832-C of hsa-mir-149 and its dysfunction is not significantly associated with Triple-negative breast cancer by using case-control analysis in 191 patients with TNBC and 192 healthy female controls -0.4 There is no association between microRNA gene polymorphisms and risk of triple negative breast cancer in a Chinese Han population. case-control analysis hsa-mir-149 miRNA Triple-negative breast cancer -0.33 CTGGGGCAGC(T > A,C)GGAACAACGC chr2: 240456086 0.3866,.,0.6134 0.31987449031600407,0.00025484199796126,0.67987066768603465 Region score:0.3; TSS score:0.39; Unmatched score:0.89; Average GERP:1.5002722772277222 GeneName:AC110619.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000218416; TranscriptID:ENST00000404891; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GPC1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000063660; TranscriptID:ENST00000264039; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR149; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207611; TranscriptID:ENST00000384879; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000133146; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003458 20543847 NONHSAT027070.2 rs2900333 C N/A 979 european ancestry cases//4,947 european ancestry controls; 664 european ancestry cases//3,456 european ancestry controls EFO_0005088 N/A Associate Testicular germ cell cancer rs2900333-C of NONHSAT027070.2 is significantly associated with the testicular germ cell cancer by using GWAS analysis in 979 european ancestry cases//4,947 european ancestry controls; 664 european ancestry cases//3,456 european ancestry controls(p-value = 6E-10 ;OR = 1.27). 0.4 Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer. genome-wide association analysis NONHSAT027070.2 lncRNA Testicular cancer 0.451 AGGGAGAAAT(C > A,G,T)GCAATTATTT chr12: 14500933 0.733,.,.,0.267 0.72176032110091743,0.00004778287461773,0.00001592762487257,0.27817596839959225 Region score:0.39; TSS score:0.47; Unmatched score:0.34; Average GERP:0.8622478217821781 GeneName:ATF7IP; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000171681; TranscriptID:ENST00000544627; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PLBD1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000121316; TranscriptID:ENST00000240617; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003458 23666240 NONHSAT027070.2 rs2900333 C N/A 986 european ancestry cases//4,946 european ancestry controls; 1,064 european ancestry cases//10,082 european ancestry controls EFO_0005088 N/A Associate Testicular germ cell tumor rs2900333-C of NONHSAT027070.2 is significantly associated with the testicular germ cell tumor by using GWAS analysis in 986 european ancestry cases//4,946 european ancestry controls; 1,064 european ancestry cases//10,082 european ancestry controls(p-value = 1E-13 ;OR = 1.32). 0.4 Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14. genome-wide association analysis NONHSAT027070.2 lncRNA Testicular cancer 0.451 AGGGAGAAAT(C > A,G,T)GCAATTATTT chr12: 14500933 0.733,.,.,0.267 0.72176032110091743,0.00004778287461773,0.00001592762487257,0.27817596839959225 Region score:0.39; TSS score:0.47; Unmatched score:0.34; Average GERP:0.8622478217821781 GeneName:ATF7IP; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000171681; TranscriptID:ENST00000544627; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PLBD1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000121316; TranscriptID:ENST00000240617; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003459 28199695 NONHSAT108751.2 rs1634794 T N/A 41,355 european ancestry men and 43,369 european ancestry women EFO_0008377 N/A Associate Itch intensity from mosquito bite adjusted by bite size rs1634794-T of NONHSAT108751.2 is significantly associated with the itch intensity from mosquito bite adjusted by bite size by using GWAS analysis in 41,355 european ancestry men and 43,369 european ancestry women(p-value = 7E-10 ;OR = 0.0287016). 0.4 GWAS of self-reported mosquito bite size, itch intensity and attractiveness to mosquitoes implicates immune-related predisposition loci. genome-wide association analysis NONHSAT108751.2 lncRNA Mosquito bite reaction itch intensity measurement 0.33 AAGGCGCCGC(G > T)GAGGAACTCA chr6: 31308537 0.4497,0.5503 0.49601012996941896,0.50398987003058103 Region score:0.44; TSS score:0.48; Unmatched score:0.73; Average GERP:1.1431138613861385 GeneName:AL671883.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000229836; TranscriptID:ENST00000421191; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HLA-B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000234745; TranscriptID:ENST00000640615; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000787542; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003460 29773352 ANRIL rs1004638 A N/A 200 atherothrombotic stroke cases and 205 controls EFO_1001976 N/A no significance for risk atherothrombotic stroke rs1004638-A of ANRIL and its dysfunction is not significantly associated with Cardioembolic stroke by using case-control analysis in 200 atherothrombotic stroke cases and 205 controls -0.4 The ANRIL Genetic Variants and Their Interactions with Environmental Risk Factors on Atherothrombotic Stroke in a Han Chinese Population. case-control analysis ANRIL lncRNA Cardioembolic stroke -0.33 GCTTCACTTA(A > C,T)GCTGCCCTAG chr9: 22115590 0.3105,.,0.6895 0.34069189602446483,0.00000796381243628,0.65930014016309887 Region score:0.16; TSS score:0.23; Unmatched score:0.27; Average GERP:-0.23638049504950506 GeneName:CDKN2B-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000240498; TranscriptID:ENST00000428597; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000877604; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01909; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277653; TranscriptID:ENST00000617921; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003461 26634245 NONHSAT157337.1 rs143988467 G N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio rs143988467-G of NONHSAT157337.1 is significantly associated with the post bronchodilator fev1/fvc ratio by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 3E-6 ;OR = 0.049). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT157337.1 lncRNA Pulmonary function measurement 0.33 CGGGTTCAAG(C > G,T)GATTCTCCTG chr10: 93557637 0.994,0.00599,. 0.99143093781855249,0.00840182212028542,0.00016724006116207 Region score:0.24; TSS score:0.19; Unmatched score:0.01; Average GERP:0.08444554455445537 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003462 24105470 NONHSAT197991.1 rs10937273 A N/A 7,827 east asian ancestry individuals; 10,252 east asian ancestry individuals EFO_0000319 N/A Associate Adiponectin levels rs10937273-A of NONHSAT197991.1 is significantly associated with the adiponectin levels by using GWAS analysis in 7,827 east asian ancestry individuals; 10,252 east asian ancestry individuals(p-value = 2E-22 ;OR = 0.12). 0.4 A meta-analysis of genome-wide association studies for adiponectin levels in East Asians identifies a novel locus near WDR11-FGFR2. genome-wide association analysis NONHSAT197991.1 lncRNA Cardiovascular disease 0.33 AACCTCCCAC(G > A)CTTCACAGGA chr3: 186831906 0.6815,0.3185 0.66759046890927624,0.33240953109072375 Region score:0.38; TSS score:0.37; Unmatched score:0.25; Average GERP:-0.4577233663366337 GeneName:AC112907.2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000231982; TranscriptID:ENST00000448639; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003463 28250457 NONHSAT183488.1 rs715 ? N/A 476 european ancestry cases//1,733 european ancestry controls; 172 european ancestry cases//1,134 european ancestry controls EFO_1002009 N/A Associate Macular telangiectasia type 2 rs715-? of NONHSAT183488.1 is significantly associated with the macular telangiectasia type 2 by using GWAS analysis in 476 european ancestry cases//1,733 european ancestry controls; 172 european ancestry cases//1,134 european ancestry controls(p-value = 1E-15 ;OR = 1.923077). 0.4 Genome-wide analyses identify common variants associated with macular telangiectasia type 2. genome-wide association analysis NONHSAT183488.1 lncRNA Macular telangiectasia type 2 0.33 TTCTGAACTC(T > C)TTCTATACTT chr2: 210678331 0.7638,0.2362 0.72770928899082568,0.27229071100917431 Region score:0.52; TSS score:0.86; Unmatched score:0.84; Average GERP:0.6805089108910892 GeneName:CPS1; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000021826; TranscriptID:ENST00000430249; AnnoType:3PRIME_UTR; mirSVR-Score:-1.1081; mirSVR-E:-13.72 | NCRV0000003464 29077507 NONHSAT187338.1 rs35520189 C N/A 677 african american women//544 african american men//115 asian women//113 asian men//1,825 european ancestry women//3,902 european ancestry men// 7,492 hispanic women//5,065 hispanic men EFO_0003918 N/A Associate Obstructive sleep apnea trait (apnea hypopnea index) rs35520189-C of NONHSAT187338.1 is significantly associated with the obstructive sleep apnea trait (apnea hypopnea index) by using GWAS analysis in 677 african american women//544 african american men//115 asian women//113 asian men//1,825 european ancestry women//3,902 european ancestry men// 7,492 hispanic women//5,065 hispanic men(p-value = 6E-6 ;OR = 0.064). 0.4 Multiethnic Meta-Analysis Identifies RAI1 as a Possible Obstructive Sleep Apnea-related Quantitative Trait Locus in Men. genome-wide association analysis NONHSAT187338.1 lncRNA Obstructive sleep apnea 0.33 ATCAGCTATA(A > C)AACTCTAACG chr2: 112861653 0.6891,0.3109 0.74239455912334352,0.25760544087665647 Region score:0.31; TSS score:0.07; Unmatched score:0; Average GERP:0 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003465 27899403 NONHSAT165336.1 rs9316871 G N/A 4,972 european ancestry cases//99,858 european ancestry controls; 2,482 european ancestry cases//2,750 cases//2,645 european ancestry controls//5,263 controls EFO_0004214 N/A Associate Abdominal aortic aneurysm rs9316871-G of NONHSAT165336.1 is significantly associated with the abdominal aortic aneurysm by using GWAS analysis in 4,972 european ancestry cases//99,858 european ancestry controls; 2,482 european ancestry cases//2,750 cases//2,645 european ancestry controls//5,263 controls(p-value = 5E-10 ;OR = 1.15). 0.4 Meta-Analysis of Genome-Wide Association Studies for Abdominal Aortic Aneurysm Identifies Four New Disease-Specific Risk Loci. genome-wide association analysis NONHSAT165336.1 lncRNA Abdominal aortic aneurysm 0.33 TCATTCATGC(A > G)TCTTAAATTG chr13: 22287782 0.7552,0.2448 0.77633632772680937,0.22366367227319062 Region score:0.35; TSS score:0.26; Unmatched score:0.05; Average GERP:-0.4581059405940593 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000475598; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003466 27989323 NONHSAT178947.1 rs138987090 G N/A 8,186 finnish ancestry individuals EFO_0005140 N/A Associate Trail levels rs138987090-G of NONHSAT178947.1 is significantly associated with the trail levels by using GWAS analysis in 8,186 finnish ancestry individuals(p-value = 5E-23 ;OR = 0.7497). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. genome-wide association analysis NONHSAT178947.1 lncRNA Autoimmune disease 0.33 GTGCAGACAT(A > G)GTGATTTTAT chr18: 32786284 0.9952,0.004792 0.99507836391437308,0.00492163608562691 Region score:0.36; TSS score:0.1; Unmatched score:0.04; Average GERP:-0.49140198019801984 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003467 28453575 NONHSAT160034.1 rs334 T N/A 12,502 hispanic/latino individuals; 7,106 hispanic/latino individuals EFO_0004348 N/A Associate Hematocrit rs334-T of NONHSAT160034.1 is significantly associated with the hematocrit by using GWAS analysis in 12,502 hispanic/latino individuals; 7,106 hispanic/latino individuals(p-value = 1E-10 ;OR = 1.32). 0.4 Genome-wide association study of red blood cell traits in Hispanics/Latinos: The Hispanic Community Health Study/Study of Latinos. genome-wide association analysis NONHSAT160034.1 lncRNA Hematocrit 0.33 AGACTTCTCC(T > A,C,G)CAGGAGTCAG chr11: 5227002 0.9726,0.02736,.,. 0.94176063965341488,0.05823936034658511,.,. N/A GeneName:AC104389.6; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000285498; TranscriptID:ENST00000644706; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HBB; CADD-Score:7; Consquence:missense; GeneID:ENSG00000244734; TranscriptID:ENST00000647020; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF00621; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000221031; TranscriptID:ENST00000408104; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003468 23535732 NONHSAT159596.1 rs11568818 A N/A 11,085 european ancestry cases//11,463 european ancestry controls; 19,662 european ancestry cases//19,715 european ancestry controls EFO_0001663 N/A Associate Prostate cancer rs11568818-A of NONHSAT159596.1 is significantly associated with the prostate cancer by using GWAS analysis in 11,085 european ancestry cases//11,463 european ancestry controls; 19,662 european ancestry cases//19,715 european ancestry controls(p-value = 2E-11 ;OR = 1.1). 0.4 Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. genome-wide association analysis NONHSAT159596.1 lncRNA Prostate cancer 0.33 ACAATGTATT(T > A,C)GTCTTTCAAA chr11: 102530930 0.6418,.,0.3582 0.58378727064220183,0.00002389143730886,0.41618883792048929 Region score:0.91; TSS score:0.94; Unmatched score:0.97; Average GERP:0.9710881188118818 GeneName:MMP7; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000137673; TranscriptID:ENST00000260227; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000440575; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003469 19514064 miR-196a2 rs11614913 C Recessive 1,324 chd cases and 1,783 non-chd controls EFO_0005207 N/A Increasing risk Congenital heart disease rs11614913-C of miR-196a2 and its dysfunction is significantly associated with the increasing risk of congenital heart disease by using case-control analysis in 1,324 CHD cases and 1,783 non-CHD controls. By using the disease cell lines or tissues, the mutation of miR-196a2 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 Functional variant in microRNA-196a2 contributes to the susceptibility of congenital heart disease in a Chinese population. case-control analysis; Function hsa-mir-196a-2 miRNA Congenital heart disease 0.593 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003470 28928442 NONHSAT067101.2 rs281377 ? N/A 52,218 european ancestry cases//10,235 european ancestry controls EFO_0008412 N/A Associate Yeast infection rs281377-? of NONHSAT067101.2 is significantly associated with the yeast infection by using GWAS analysis in 52,218 european ancestry cases//10,235 european ancestry controls(p-value = 5E-7 ;OR = 0.0321). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. genome-wide association analysis NONHSAT067101.2 lncRNA Susceptibility to vaginal yeast infection measurement 0.33 ACCACCTGAA(C > T)GACTGGATGG chr19: 48703346 0.504,0.496 0.57179376911314984,0.42820623088685015 Region score:0.22; TSS score:0.29; Unmatched score:0.35; Average GERP:0.683168316831683 GeneName:FUT2; CADD-Score:5; Consquence:synonymous; GeneID:ENSG00000176920; TranscriptID:ENST00000425340; AnnoType:SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003471 21829377 NONHSAT180792.1 rs12459897 T N/A 8,866 european ancestry individuals EFO_0000319 N/A Associate Plasma omega-3 polyunsaturated fatty acid level (eicosapentaenoic acid) rs12459897-T of NONHSAT180792.1 is significantly associated with the plasma omega-3 polyunsaturated fatty acid level (eicosapentaenoic acid) by using GWAS analysis in 8,866 european ancestry individuals(p-value = 8E-7 ;OR = 0.09). 0.4 Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium. genome-wide association analysis NONHSAT180792.1 lncRNA Cardiovascular disease 0.33 GGTAAAAAGG(G > T)CTTTCTACAC chr19: 31105872 0.9964,0.003594 0.98787907747196738,0.01212092252803261 Region score:0.34; TSS score:0.13; Unmatched score:0.17; Average GERP:-1.0086059405940593 GeneName:AC020912.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000284430; TranscriptID:ENST00000638312; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000588039; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003472 26634245 NONHSAT047580.2 rs8040868NR ? N/A 6,659 european ancestry current and former smoker individuals EFO_0003892 N/A Associate Pre bronchodilator fev1 rs8040868NR-? of NONHSAT047580.2 is significantly associated with the pre bronchodilator fev1 by using GWAS analysis in 6,659 european ancestry current and former smoker individuals(p-value = 4E-11 ;OR = 0.08504). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT047580.2 lncRNA Pulmonary function measurement 0.33 N/A N/A N/A N/A N/A N/A NCRV0000003473 24716941 miR-196a2 rs11614913 C N/A 524 subjects without cancer and 827 subjects with at least one type of cancer, such as gastric (n=160), lung (n=148), colorectal (n=116) or others. EFO_0000311 N/A no significance for risk cancer rs11614913-C of hsa-mir-196a-2 and its dysfunction is not significantly associated with Cancer by using case-control analysis in 524 subjects without cancer and 827 subjects with at least one type of cancer, such as gastric (n=160), lung (n=148), colorectal (n=116) or others. -0.4 Association analysis of single nucleotide polymorphisms in miR-146a and miR-196a2 on the prevalence of cancer in elderly Japanese: a case-control study. case-control analysis hsa-mir-196a-2 miRNA Cancer 0.503 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003473 27397105 MIR196A2 rs11614913 T N/A Cancer cell lines EFO_0000311 N/A decreasing risk cancer rs11614913-T of hsa-mir-196a-2 and its dysfunction is significantly associated with the decreasing risk of Cancer by using analysis of sequence variation in Cancer cell lines 0.9 MicroRNA Genetic Variation: From Population Analysis to Functional Implications of Three Allele Variants Associated with Cancer. analysis of sequence variation hsa-mir-196a-2 miRNA Cancer 0.503 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003473 21625865 miR-196a2 rs11614913 C recessive 6,540 cases and 7,562 controls EFO_0000311 N/A increasing risk cancer rs11614913-C of hsa-mir-196a-2 and its dysfunction is significantly associated with the increasing risk of Cancer by using Pedigree analysis in 6,540 cases and 7,562 controls 0.4 A genetic variant in microRNA-196a2 is associated with increased cancer risk: a meta-analysis. Pedigree analysis hsa-mir-196a-2 miRNA Cancer 0.503 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003474 29773352 ANRIL rs1333049 C N/a 200 atherothrombotic stroke cases and 205 controls EFO_1001976 N/A No significance for risk Atherothrombotic stroke rs1333049-C of ANRIL and its dysfunction is not significantly associated with atherothrombotic stroke by using case-control analysis in 200 atherothrombotic stroke cases and 205 controls. -0.4 The ANRIL Genetic Variants and Their Interactions with Environmental Risk Factors on Atherothrombotic Stroke in a Han Chinese Population. case-control analysis ANRIL lncRNA Cardioembolic stroke -0.33 ATCAACAGTT(G > C)AAAAGCAGCC chr9: 22125504 0.5819,0.4181 0.58608084862385321,0.41391915137614678 Region score:0.28; TSS score:0.23; Unmatched score:0.16; Average GERP:-0.2969128712871284 GeneName:CDKN2B-AS1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000240498; TranscriptID:ENST00000428597; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000877606; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003475 26830138 NONHSAT164918.1 rs190909796 T N/A 2,478 european ancestry cases//979 ancestry controls both from the same 1,070 families EFO_0000249 N/A Associate Alzheimer disease and age of onset rs190909796-T of NONHSAT164918.1 is significantly associated with the alzheimer disease and age of onset by using GWAS analysis in 2,478 european ancestry cases//979 ancestry controls both from the same 1,070 families(p-value = 5E-7 ;OR = 5.038). 0.4 Family-based association analyses of imputed genotypes reveal genome-wide significant association of Alzheimer's disease with OSBPL6, PTPRG, and PDCL3. genome-wide association analysis NONHSAT164918.1 lncRNA Alzheimers disease 0.33 TGGTAGAATT(C > T)GGCTGTGAAT chr12: 80080902 0.9994,0.000599 0.99806479357798165,0.00193520642201834 Region score:0.11; TSS score:0.05; Unmatched score:0; Average GERP:0.08938 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003476 22885922 NONHSAT053287.2 rs11651052 A N/A 6,377 european ancestry male cases//5,794 european ancestry female cases//22,243 european ancestry male controls//34,619 european ancestry female controls; 12,938 european ancestry male cases//8,553 european ancestry female cases//904 pakistani ancestry male cases//274 pakistani ancestry female cases//30,273 european ancestry male controls//25,374 european ancestry female controls//2,088 pakistani ancestry male controls//384 pakistani ancestry female controls EFO_0001360 N/A Associate Type 2 diabetes rs11651052-A of NONHSAT053287.2 is significantly associated with the type 2 diabetes by using GWAS analysis in 6,377 european ancestry male cases//5,794 european ancestry female cases//22,243 european ancestry male controls//34,619 european ancestry female controls; 12,938 european ancestry male cases//8,553 european ancestry female cases//904 pakistani ancestry male cases//274 pakistani ancestry female cases//30,273 european ancestry male controls//25,374 european ancestry female controls//2,088 pakistani ancestry male controls//384 pakistani ancestry female controls(p-value = 2E-11 ;OR = 1.1). 0.4 Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes. genome-wide association analysis NONHSAT053287.2 lncRNA Type ii diabetes mellitus 0.33 CTAGAACTCC(G > A)GGAACTCCAA chr17: 37742390 0.4239,0.5761 0.49823999745158002,0.50176000254841997 Region score:0.38; TSS score:0.43; Unmatched score:0.72; Average GERP:-1.6867455445544552 GeneName:HNF1B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000275410; TranscriptID:ENST00000617811; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000093699; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003477 25811787 NONHSAT068203.2 rs7249211 G N/A up to 5,529 european ancestry male individuals//up to 9,753 european ancestry female individuals EFO_0004531 N/A Associate Urate levels in lean individuals rs7249211-G of NONHSAT068203.2 is significantly associated with the urate levels in lean individuals by using GWAS analysis in up to 5,529 european ancestry male individuals//up to 9,753 european ancestry female individuals(p-value = 6E-6 ;OR = 0.104). 0.4 Modulation of genetic associations with serum urate levels by body-mass-index in humans. genome-wide association analysis NONHSAT068203.2 lncRNA Urate measurement 0.33 CAGGCATCAC(A > G)TCCGTGTTCC chr19: 56906546 0.6697,0.3303 0.66141851427115188,0.33858148572884811 Region score:0.33; TSS score:0.26; Unmatched score:0.01; Average GERP:-0.05301188118811877 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003478 23251661 NONHSAT209020.1 rs2296743 A N/A 815 hispanic children from 263 families EFO_0003939 N/A Associate Obesity-related traits rs2296743-A of NONHSAT209020.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 8E-6 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. genome-wide association analysis NONHSAT209020.1 lncRNA Energy intake 0.33 AACACCATCC(C > T)TGCCCCACCT chr6: 33772248 0.5859,0.4141 0.66065398827726809,0.33934601172273190 Region score:0.42; TSS score:0.61; Unmatched score:0.75; Average GERP:-0.7076683168316831 GeneName:LEMD2; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000161904; TranscriptID:ENST00000293760; AnnoType:3PRIME_UTR; mirSVR-Score:-0.0790; mirSVR-E:-22.08 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000788272; AnnoType:REGULATORY; mirSVR-Score:-0.0790; mirSVR-E:-22.08 | NCRV0000003479 22634755 NONHSAT159410.1 rs3824999 ? N/A 8,323 european ancestry cases//9,457 european ancestry controls; 19,513 european ancestry cases//17,657 european ancestry controls//1,583 japanese ancestry cases//1,898 japanese ancestry controls EFO_0005842 N/A Associate Colorectal cancer rs3824999-? of NONHSAT159410.1 is significantly associated with the colorectal cancer by using GWAS analysis in 8,323 european ancestry cases//9,457 european ancestry controls; 19,513 european ancestry cases//17,657 european ancestry controls//1,583 japanese ancestry cases//1,898 japanese ancestry controls(p-value = 4E-10 ;OR = 1.08). 0.4 Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk. genome-wide association analysis NONHSAT159410.1 lncRNA Colorectal cancer 0.52 GACATGTCAA(T > G)TTAGAGAACC chr11: 74634505 0.6731,0.3269 0.60987672018348623,0.39012327981651376 Region score:0.37; TSS score:0.19; Unmatched score:0.27; Average GERP:0.3738980198019802 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000435532; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000435533; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:POLD3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000077514; TranscriptID:ENST00000263681; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003479 25990418 NONHSAT159410.1 rs3824999 C N/A 7,577 european ancestry cases//9,979 european ancestry controls EFO_0005842 N/A Associate Colorectal cancer rs3824999-C of NONHSAT159410.1 is significantly associated with the colorectal cancer by using GWAS analysis in 7,577 european ancestry cases//9,979 european ancestry controls(p-value = 8E-11 ;OR = 1.15). 0.4 A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer. genome-wide association analysis NONHSAT159410.1 lncRNA Colorectal cancer 0.52 GACATGTCAA(T > G)TTAGAGAACC chr11: 74634505 0.6731,0.3269 0.60987672018348623,0.39012327981651376 Region score:0.37; TSS score:0.19; Unmatched score:0.27; Average GERP:0.3738980198019802 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000435532; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000435533; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:POLD3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000077514; TranscriptID:ENST00000263681; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003479 26151821 NONHSAT159410.1 rs3824999 G N/A 18,299 european ancestry cases//19,656 european ancestry controls; 4,725 east asian ancestry cases//9,969 east asian ancestry controls EFO_0005842 N/A Associate Colorectal cancer rs3824999-G of NONHSAT159410.1 is significantly associated with the colorectal cancer by using GWAS analysis in 18,299 european ancestry cases//19,656 european ancestry controls; 4,725 east asian ancestry cases//9,969 east asian ancestry controls(p-value = 1E-6 ;OR = 1.0752687). 0.4 Genome-wide association study of colorectal cancer identifies six new susceptibility loci. genome-wide association analysis NONHSAT159410.1 lncRNA Colorectal cancer 0.52 GACATGTCAA(T > G)TTAGAGAACC chr11: 74634505 0.6731,0.3269 0.60987672018348623,0.39012327981651376 Region score:0.37; TSS score:0.19; Unmatched score:0.27; Average GERP:0.3738980198019802 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000435532; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000435533; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:POLD3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000077514; TranscriptID:ENST00000263681; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003480 25673413 NONHSAT006361.2 rs4357530 G N/A up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals EFO_0001073 N/A Associate Body mass index rs4357530-G of NONHSAT006361.2 is significantly associated with the body mass index by using GWAS analysis in up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals(p-value = 2E-6 ;OR = 0.016). 0.4 Genetic studies of body mass index yield new insights for obesity biology. genome-wide association analysis NONHSAT006361.2 lncRNA Obesity 0.33 GTTTAAGTAA(G > A)GCACCCCATA chr1: 151130677 0.3846,0.6154 0.42359518348623853,0.57640481651376146 Region score:0.44; TSS score:0.55; Unmatched score:0.73; Average GERP:-0.17286336633663357 GeneName:AL592424.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000261168; TranscriptID:ENST00000563624; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000013583; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SEMA6C; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000143434; TranscriptID:ENST00000368913; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003481 27424800 mir-124-1 rs56280384 ? N/a Schizophrenias EFO_0000692 N/A Increasing risk Schizophrenia rs56280384-? of mir-124-1 and its dysfunction is significantly associated with the increasing risk of Schizophrenia by using genome-wide association analysis in Schizophrenias. 0.4 Schizophrenia risk variants affecting microRNA function and site-specific regulation of NT5C2 by miR-206. genome-wide association analysis hsa-mir-124-1 miRNA Schizophrenia 0.33 CGTGCCCGCG(C > G,T)CTGGGAGGCG chr8: 9906864 0.4111,.,0.5889 0.29950305810397553,0.09357479612640163,0.60692214576962283 Region score:0.36; TSS score:0.57; Unmatched score:0.86; Average GERP:1.2173699999999996 GeneName:LINC00599; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000253230; TranscriptID:ENST00000517675; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR124-1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284321; TranscriptID:ENST00000385275; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000847381; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003482 24816252 NONHSAT071625.2 rs13538 A N/A up to 5,591 european ancestry individuals; up to 1,767 european ancestry individuals EFO_0005664 N/A Associate Blood metabolite levels rs13538-A of NONHSAT071625.2 is significantly associated with the blood metabolite levels by using GWAS analysis in up to 5,591 european ancestry individuals; up to 1,767 european ancestry individuals(p-value = 8E-157 ;OR = 0.119). 0.4 An atlas of genetic influences on human blood metabolites. genome-wide association analysis NONHSAT071625.2 lncRNA Blood metabolite measurement 0.33 ACTGTCCACA(A > G)AGAGATGAAA chr2: 73641201 0.7304,0.2696 0.69170489296636085,0.30829510703363914 Region score:0.18; TSS score:0.47; Unmatched score:0.73; Average GERP:-0.02917128712871282 GeneName:ALMS1P1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000163016; TranscriptID:ENST00000450720; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000610056; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NAT8; CADD-Score:7; Consquence:missense; GeneID:ENSG00000144035; TranscriptID:ENST00000272425; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003483 26621817 NONHSAT028182.2 rs12817211 C N/A 5,725 european ancestry colorectal carcinoma cases//2,212 european ancestry endometrial carcinoma cases//13,396 european ancestry controls EFO_1001512 N/A Associate Colorectal or endometrial cancer rs12817211-C of NONHSAT028182.2 is significantly associated with the colorectal or endometrial cancer by using GWAS analysis in 5,725 european ancestry colorectal carcinoma cases//2,212 european ancestry endometrial carcinoma cases//13,396 european ancestry controls(p-value = 3E-6 ;OR = 1.12). 0.4 Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1. genome-wide association analysis NONHSAT028182.2 lncRNA Endometrial cancer 0.33 AAATCAGCCT(C > T)ACTCGTATCT chr12: 50185615 0.9193,0.08067 0.86489392201834862,0.13510607798165137 Region score:0.45; TSS score:0.3; Unmatched score:0.63; Average GERP:0.4031455445544551 GeneName:AC008147.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000257298; TranscriptID:ENST00000552061; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LIMA1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000050405; TranscriptID:ENST00000394943; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003484 28199695 NONHSAT099588.2 rs71638129 G N/A 41,355 european ancestry men and 43,369 european ancestry women EFO_0008377 N/A Associate Itch intensity from mosquito bite adjusted by bite size rs71638129-G of NONHSAT099588.2 is significantly associated with the itch intensity from mosquito bite adjusted by bite size by using GWAS analysis in 41,355 european ancestry men and 43,369 european ancestry women(p-value = 2E-6 ;OR = 0.0207213). 0.4 GWAS of self-reported mosquito bite size, itch intensity and attractiveness to mosquitoes implicates immune-related predisposition loci. genome-wide association analysis NONHSAT099588.2 lncRNA Mosquito bite reaction itch intensity measurement 0.33 GATGAGTGCC(G > A)GGATGGAGTG chr4: 184965594 N/A 0.75364742609582059,0.24635257390417940 Region score:0.25; TSS score:0.18; Unmatched score:0.14; Average GERP:0 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000745399; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003485 26634245 NONHSAT023893.2 rs563096 A N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio rs563096-A of NONHSAT023893.2 is significantly associated with the post bronchodilator fev1/fvc ratio by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 2E-7 ;OR = 0.016). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT023893.2 lncRNA Pulmonary function measurement 0.33 TTCCCCAAAA(A > T)TCCTCCTCCC chr11: 102836635 0.9251,0.07488 0.91066991590214067,0.08933008409785932 Region score:0.37; TSS score:0.46; Unmatched score:0.61; Average GERP:-0.7086356435643565 GeneName:MMP3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000149968; TranscriptID:ENST00000299855; AnnoType:INTRONIC; mirSVR-Score:-0.3893; mirSVR-E:-13.80 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000440650; AnnoType:REGULATORY; mirSVR-Score:-0.3893; mirSVR-E:-13.80 | GeneName:WTAPP1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000255282; TranscriptID:ENST00000525739; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.3893; mirSVR-E:-13.80 | NCRV0000003486 20834067 NONHSAT189924.1 rs4468878 ? N/A 1,173 individuals EFO_0004300 N/A Associate Longevity rs4468878-? of NONHSAT189924.1 is significantly associated with the longevity by using GWAS analysis in 1,173 individuals(p-value = 1E-6 ;OR = ?). 0.4 Joint influence of small-effect genetic variants on human longevity. genome-wide association analysis NONHSAT189924.1 lncRNA Longevity 0.33 GTGGAAAGCA(T > C)ATACATGATG chr20: 61353181 0.4976,0.5024 0.49464831804281345,0.50535168195718654 Region score:0.31; TSS score:0.35; Unmatched score:0.19; Average GERP:-2.2503069306930703 GeneName:CDH4; CADD-Score:2; Consquence:intron; GeneID:ENSG00000179242; TranscriptID:ENST00000614565; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003487 26426696 miR-146a rs2910164 G N/a 145 patients with renal biopsy-proved iga nephropathy (igan) and 179 healthy controls EFO_0004194 N/A No significance for risk Iga nephropathy rs2910164-G of miR-146a and its dysfunction is not significantly associated with IgA nephropathy by using case-control analysis in 145 patients with renal biopsy-proved IgA nephropathy (IgAN) and 179 healthy controls . -0.4 Genetic Variation in miR-146a Is Not Associated with Susceptibility to IgA Nephropathy in Adults from a Chinese Han Population. case-control analysis hsa-mir-146a miRNA Iga glomerulonephritis -0.33 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 N/A 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003488 28031287 NONHSAT179731.1 rs2304176 ? N/A 133 japanese ancestry individuals. EFO_0005772 N/A Associate Cerebrospinal fluid biomarker levels rs2304176-? of NONHSAT179731.1 is significantly associated with the cerebrospinal fluid biomarker levels by using GWAS analysis in 133 japanese ancestry individuals.(p-value = 7E-33 ;OR = ?). 0.4 Genome-wide quantitative trait loci mapping of the human cerebrospinal fluid proteome. genome-wide association analysis NONHSAT179731.1 lncRNA Neurodegenerative disease 0.33 CAACTTCTCT(T > C,G)ACCGCCATGG chr19: 38304255 0.6585,0.3415,. 0.74981683231396534,0.25017520387359836,0.00000796381243628 Region score:0.38; TSS score:0.62; Unmatched score:0.94; Average GERP:-1.169678316831683 GeneName:AC011479.1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000267748; TranscriptID:ENST00000591889; AnnoType:INTRONIC; mirSVR-Score:-0.1905; mirSVR-E:-17.29 | GeneName:C19orf33; CADD-Score:3; Consquence:5_prime_UTR; GeneID:ENSG00000167644; TranscriptID:ENST00000301246; AnnoType:5PRIME_UTR; mirSVR-Score:-0.1905; mirSVR-E:-17.29 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000589512; AnnoType:REGULATORY; mirSVR-Score:-0.1905; mirSVR-E:-17.29 | GeneName:YIF1B; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000167645; TranscriptID:ENST00000339413; AnnoType:DOWNSTREAM; mirSVR-Score:-0.1905; mirSVR-E:-17.29 | NCRV0000003489 25154761 miR-146a rs2910164 C Recessive 400 nsclc patients and 400 cancer-free healthy controls in the chinese population EFO_0003060 N/A Increasing risk Nonsmall cell lung cancer rs2910164-C of miR-146a and its dysfunction is significantly associated with the increasing risk of nonsmall cell lung cancer by using case-control analysis in 400 NSCLC patients and 400 cancer-free healthy controls in the Chinese population. By using the disease cell lines or tissues, the mutation of miR-146a has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 MicroRNA-146a rs2910164 polymorphism is associated with susceptibility to non-small cell lung cancer in the Chinese population. case-control analysis; Function hsa-mir-146a miRNA Non-small cell lung cancer 0.667 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 N/A 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003489 22818121 miR-146a rs2910164 G N/A 388 patients with NSCLC EFO_0003060 N/A decreasing risk non-small cell lung carcinoma rs2910164-G of hsa-mir-146a and its dysfunction is significantly associated with the decreasing risk of Non-small cell lung carcinoma by using analysis of sequence variation in 388 patients with NSCLC 0.4 The prognostic impact of microRNA sequence polymorphisms on the recurrence of patients with completely resected non-small cell lung cancer. analysis of sequence variation hsa-mir-146a miRNA Non-small cell lung carcinoma 0.667 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 0 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003490 27989323 NONHSAT022478.2 rs190553906 G N/A 3,636 finnish ancestry individuals EFO_0005140 N/A Associate Interleukin-18 levels rs190553906-G of NONHSAT022478.2 is significantly associated with the interleukin-18 levels by using GWAS analysis in 3,636 finnish ancestry individuals(p-value = 9E-6 ;OR = 0.9941). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. genome-wide association analysis NONHSAT022478.2 lncRNA Autoimmune disease 0.33 GGCAAAAGAA(G > C)AAAATGAGAC chr11: 67891251 N/A 1 Region score:0.33; TSS score:0.25; Unmatched score:0.39; Average GERP:0.6468762376237625 GeneName:AP003716.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000251637; TranscriptID:ENST00000511677; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RNU6-46P; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000206587; TranscriptID:ENST00000383860; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003491 27798627 NONHSAT188655.1 rs293566 T N/A 189,656 european ancestry women//48,408 european ancestry men; EFO_0007862 N/A Associate Age at first birth rs293566-T of NONHSAT188655.1 is significantly associated with the age at first birth by using GWAS analysis in 189,656 european ancestry women//48,408 european ancestry men; (p-value = 1E-6 ;OR = 0.079). 0.4 Genome-wide analysis identifies 12 loci influencing human reproductive behavior. genome-wide association analysis NONHSAT188655.1 lncRNA Reproductive behaviour measurement 0.33 CTCCTGCAGC(T > C)CAAACTACTT chr20: 32510074 0.3385,0.6615 0.46266564729867482,0.53733435270132517 Region score:0.17; TSS score:0.28; Unmatched score:0.43; Average GERP:-0.9112280198019802 GeneName:AL034550.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000277301; TranscriptID:ENST00000620523; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000298170; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000649150; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NOL4L; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197183; TranscriptID:ENST00000621426; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003492 19734901 NONHSAT130617.2 rs2814707 ? N/A 2,323 european ancestry cases//9,013 european ancestry controls; 2,532 european ancestry cases//5,940 european ancestry controls EFO_0000253 N/A Associate Amyotrophic lateral sclerosis rs2814707-? of NONHSAT130617.2 is significantly associated with the amyotrophic lateral sclerosis by using GWAS analysis in 2,323 european ancestry cases//9,013 european ancestry controls; 2,532 european ancestry cases//5,940 european ancestry controls(p-value = 7E-9 ;OR = 1.22). 0.4 Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis. genome-wide association analysis NONHSAT130617.2 lncRNA Amyotrophic lateral sclerosis 0.33 AAAGCCAGTG(C > G,T)CAACCCTGGA chr9: 27536399 0.8275,.,0.1725 0.78739009938837920,0.00000796381243628,0.21260193679918450 Region score:0.3; TSS score:0.29; Unmatched score:0.13; Average GERP:-0.09781722772277229 GeneName:AL451123.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000285103; TranscriptID:ENST00000645861; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000334774; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003493 27863252 NONHSAT197521.1 rs4328821 G N/A 172,378 european ancestry individuals EFO_0007991 N/A Associate Eosinophil percentage of white cells rs4328821-G of NONHSAT197521.1 is significantly associated with the eosinophil percentage of white cells by using GWAS analysis in 172,378 european ancestry individuals(p-value = 2E-145 ;OR = 0.147194). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT197521.1 lncRNA Eosinophil percentage of leukocytes 0.33 CGTGCACCCA(A > G)TTTTAGAGAT chr3: 128597592 0.8073,0.1927 0.85647617227319062,0.14352382772680937 Region score:0.21; TSS score:0.16; Unmatched score:0.03; Average GERP:0.03414851485148518 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003494 28714975 NONHSAT179793.1 rs7412 C N/A 18,467 european and unknown ancestry cases//45,264 european and unknown ancestry controls; 57,347 european and unknown ancestry cases//219,521 european and unknown ancestry controls EFO_0000378 N/A Associate Coronary artery disease (myocardial infartum//percutaneous transluminal coronary angioplasty//coronary artery bypass grafting//angina or chromic ischemic heart disease) rs7412-C of NONHSAT179793.1 is significantly associated with the coronary artery disease (myocardial infartum//percutaneous transluminal coronary angioplasty//coronary artery bypass grafting//angina or chromic ischemic heart disease) by using GWAS analysis in 18,467 european and unknown ancestry cases//45,264 european and unknown ancestry controls; 57,347 european and unknown ancestry cases//219,521 european and unknown ancestry controls(p-value = 2E-19 ;OR = 1.15). 0.4 Association analyses based on false discovery rate implicate new loci for coronary artery disease. genome-wide association analysis NONHSAT179793.1 lncRNA Coronary artery disease 0.33 CCTGCAGAAG(C > T)GCCTGGCAGT chr19: 44908822 0.9249,0.07508 0.91786123853211009,0.08213876146788990 Region score:0.36; TSS score:0.39; Unmatched score:0.61; Average GERP:1.2422673267326734 GeneName:AC011481.3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000280087; TranscriptID:ENST00000623895; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:APOE; CADD-Score:7; Consquence:missense; GeneID:ENSG00000130203; TranscriptID:ENST00000252486; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003495 26265699 NONHSAT056714.2 rs4789693 C N/A 274 european ancestry osteonecrosis cases//25 black osteonecrosis cases//68 hispanic osteonecrosis cases//6 asian ancestry osteonecrosis cases//27 other ancestry osteonecrosis cases// 1,477 european ancestry treated controls//223 black treated controls//572 hispanic treated controls//48 asian ancestry treated controls//235 other ancestry treated controls EFO_0004259 Glucocorticoid-induced Associate Glucocorticoid-induced osteonecrosis rs4789693-C of NONHSAT056714.2 is significantly associated with the glucocorticoid-induced osteonecrosis by using GWAS analysis in 274 european ancestry osteonecrosis cases//25 black osteonecrosis cases//68 hispanic osteonecrosis cases//6 asian ancestry osteonecrosis cases//27 other ancestry osteonecrosis cases// 1,477 european ancestry treated controls//223 black treated controls//572 hispanic treated controls//48 asian ancestry treated controls//235 other ancestry treated controls(p-value = 6E-6 ;OR = ?). 0.4 Genetics of glucocorticoid-associated osteonecrosis in children with acute lymphoblastic leukemia. genome-wide association analysis NONHSAT056714.2 lncRNA Osteonecrosis 0.33 TCCAGAACAC(A > C,T)GGGGTCATTT chr17: 82463994 0.6292,0.3708,. 0.67503663353720693,0.32496336646279306,. Region score:0.16; TSS score:0.2; Unmatched score:0.44; Average GERP:-1.3967163265306115 GeneName:AC132938.5; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000279744; TranscriptID:ENST00000623828; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NARF; CADD-Score:2; Consquence:intron; GeneID:ENSG00000141562; TranscriptID:ENST00000309794; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003496 27863252 NONHSAT010798.2 rs3811444 T N/A 172,851 european ancestry individuals EFO_0004527 N/A Associate Mean corpuscular hemoglobin concentration rs3811444-T of NONHSAT010798.2 is significantly associated with the mean corpuscular hemoglobin concentration by using GWAS analysis in 172,851 european ancestry individuals(p-value = 4E-39 ;OR = 0.04786762). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT010798.2 lncRNA Mean corpuscular hemoglobin 0.33 GGGGAAACCA(C > T)GCCATCTCCT chr1: 247876149 0.7726,0.2274 0.74839927370030581,0.25160072629969418 Region score:0.13; TSS score:0.23; Unmatched score:0.34; Average GERP:0.6634764356435642 GeneName:TRIM58; CADD-Score:7; Consquence:missense; GeneID:ENSG00000162722; TranscriptID:ENST00000366481; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003497 19293314 miRNA-499 rs3746444 G N/A 1,058 incident lung cancer patients and 1,035 cancer-free controls EFO_0001071 N/A no significance for risk lung carcinoma rs3746444-G of hsa-mir-499a and its dysfunction is not significantly associated with Lung carcinoma by using case-control analysis in 1,058 incident lung cancer patients and 1,035 cancer-free controls -0.4 A functional genetic variant in microRNA-196a2 is associated with increased susceptibility of lung cancer in Chinese. case-control analysis hsa-mir-499a miRNA Lung carcinoma 0.798 CCACGTGAAC(A > G)TCACAGCAAG chr20: 34990448 0.8165,0.1835 0.81708715596330275,0.18291284403669724 Region score:0.79; TSS score:0.85; Unmatched score:0.95; Average GERP:3.757564356435645 GeneName:MIR499A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207635; TranscriptID:ENST00000384903; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR499B; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283441; TranscriptID:ENST00000636498; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYH7B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000078814; TranscriptID:ENST00000262873; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003497 25614447 hsa-mir-499 rs3746444 C Dominant 576 patients with lung cancer in a southern chinese population, and the significant results were validated in two additional cohorts of 346 and 368 patients, respectively EFO_0001071 cisplatinum Poor prognosis Lung cancer rs3746444-C of hsa-mir-499 and its dysfunction is significantly associated with the poor prognosis of Lung Cancer by using case-control analysis in 576 patients with lung cancer in a southern Chinese population, and the significant results were validated in two additional cohorts of 346 and 368 patients, respectively. By using the disease cell lines or tissues, the mutation of hsa-mir-499 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. Moreover, the ncRNA variation-disease association was validated by complex experiments. Furthermore, the physiological function of hsa-mir-499(mutation or interference expression) is documented by organism models in vivo such as xenograft or transgenic model etc. 2 Sequence Variation in Mature MicroRNA-499 Confers Unfavorable Prognosis of Lung Cancer Patients Treated with Platinum-Based Chemotherapy. case-control analysis; Function; Mechanism; Animal model hsa-mir-499a miRNA Lung cancer 0.798 CCACGTGAAC(A > G)TCACAGCAAG chr20: 34990448 0.8165,0.1835 0.81708715596330275,0.18291284403669724 Region score:0.79; TSS score:0.85; Unmatched score:0.95; Average GERP:3.757564356435645 GeneName:MIR499A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207635; TranscriptID:ENST00000384903; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR499B; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283441; TranscriptID:ENST00000636498; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYH7B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000078814; TranscriptID:ENST00000262873; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003498 21738478 NONHSAT197521.1 rs4328821 A N/A 8,794 japanese ancestry individuals; 5,998 japanese ancestry individuals EFO_0005090 N/A Associate White blood cell types rs4328821-A of NONHSAT197521.1 is significantly associated with the white blood cell types by using GWAS analysis in 8,794 japanese ancestry individuals; 5,998 japanese ancestry individuals(p-value = 5E-40 ;OR = 0.161). 0.4 Identification of nine novel loci associated with white blood cell subtypes in a Japanese population. genome-wide association analysis NONHSAT197521.1 lncRNA Basophil count 0.52 CGTGCACCCA(A > G)TTTTAGAGAT chr3: 128597592 0.8073,0.1927 0.85647617227319062,0.14352382772680937 Region score:0.21; TSS score:0.16; Unmatched score:0.03; Average GERP:0.03414851485148518 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003498 28158719 NONHSAT197521.1 rs4328821 A N/A up to 11,809 hispanic/latino american individuals; up to 7,200 hispanic/latino american individuals EFO_0005090 N/A Associate White blood cell count (basophil) rs4328821-A of NONHSAT197521.1 is significantly associated with the white blood cell count (basophil) by using GWAS analysis in up to 11,809 hispanic/latino american individuals; up to 7,200 hispanic/latino american individuals(p-value = 1E-20 ;OR = 0.066). 0.4 Genome-wide association of white blood cell counts in Hispanic/Latino Americans: the Hispanic Community Health Study/Study of Latinos. genome-wide association analysis NONHSAT197521.1 lncRNA Basophil count 0.52 CGTGCACCCA(A > G)TTTTAGAGAT chr3: 128597592 0.8073,0.1927 0.85647617227319062,0.14352382772680937 Region score:0.21; TSS score:0.16; Unmatched score:0.03; Average GERP:0.03414851485148518 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003498 21738480 NONHSAT197521.1 rs4328821 A N/A 19,509 european ancestry individuals; 11,823 european ancestry individuals EFO_0005090 N/A Associate White blood cell count rs4328821-A of NONHSAT197521.1 is significantly associated with the white blood cell count by using GWAS analysis in 19,509 european ancestry individuals; 11,823 european ancestry individuals(p-value = 4E-13 ;OR = 0.01). 0.4 Multiple loci are associated with white blood cell phenotypes. genome-wide association analysis NONHSAT197521.1 lncRNA Basophil count 0.52 CGTGCACCCA(A > G)TTTTAGAGAT chr3: 128597592 0.8073,0.1927 0.85647617227319062,0.14352382772680937 Region score:0.21; TSS score:0.16; Unmatched score:0.03; Average GERP:0.03414851485148518 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003499 27863252 NONHSAT076891.2 rs55799208 A N/A 172,435 european ancestry individuals EFO_0004308 N/A Associate White blood cell count rs55799208-A of NONHSAT076891.2 is significantly associated with the white blood cell count by using GWAS analysis in 172,435 european ancestry individuals(p-value = 6E-32 ;OR = 0.4224498). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT076891.2 lncRNA Leukocyte count 0.33 CATGCCACAC(G > A)CACACTGACC chr2: 218135259 0.9992,0.0007987 0.99875764525993883,0.00124235474006116 Region score:0.3; TSS score:0.45; Unmatched score:0.56; Average GERP:2.868386138613863 GeneName:CXCR2; CADD-Score:7; Consquence:missense; GeneID:ENSG00000180871; TranscriptID:ENST00000318507; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003500 23954879 pre-mir-27a rs895819 G Dominant 264 females diagnosed with unilateral breast cancer in Qilu Hospital and 255 health subjects EFO_0000305 N/A decreasing risk breast carcinoma rs895819-G of hsa-mir-27a and its dysfunction is significantly associated with the decreasing risk of Breast carcinoma by using case-control analysis in 264 females diagnosed with unilateral breast cancer in Qilu Hospital and 255 health subjects 0.9 A genetic variant in pre-miR-27a is associated with a reduced breast cancer risk in younger Chinese population. case-control analysis hsa-mir-27a miRNA Breast carcinoma 0.607 CACGACTTGG(T > C)GTGGACCCTG chr19: 13836478 0.6362,0.3638 0.63091711264016309,0.36908288735983690 Region score:0.57; TSS score:0.41; Unmatched score:0.75; Average GERP:2.158386138613861 GeneName:AC020916.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000267519; TranscriptID:ENST00000587762; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR23A; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207980; TranscriptID:ENST00000385245; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR24-2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284387; TranscriptID:ENST00000386972; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR27A; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207808; TranscriptID:ENST00000385073; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000107447; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ZSWIM4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000132003; TranscriptID:ENST00000254323; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003500 19921425 pre-miRNA-27a rs895819 G Dominant 1,217 german familial breast cancer (bc) patients and 1,422 unrelated healthy german women EFO_0000305 N/A Decreasing risk Breast cancer rs895819-G of pre-miRNA-27a and its dysfunction is significantly associated with the decreasing risk of breast cancer by using case-control analysis in 1,217 German familial breast cancer (BC) patients and 1,422 unrelated healthy German women. 0.4 A genetic variant in the pre-miR-27a oncogene is associated with a reduced familial breast cancer risk. case-control analysis hsa-mir-27a miRNA Breast cancer 0.607 CACGACTTGG(T > C)GTGGACCCTG chr19: 13836478 0.6362,0.3638 0.63091711264016309,0.36908288735983690 Region score:0.57; TSS score:0.41; Unmatched score:0.75; Average GERP:2.158386138613861 GeneName:AC020916.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000267519; TranscriptID:ENST00000587762; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR23A; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207980; TranscriptID:ENST00000385245; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR24-2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284387; TranscriptID:ENST00000386972; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR27A; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207808; TranscriptID:ENST00000385073; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000107447; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ZSWIM4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000132003; TranscriptID:ENST00000254323; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003500 26125831 miR-27a rs895819 G N/a 321 breast cancer patients and 290 controls in the chinese population EFO_0000305 N/A No significance for risk Breast cancer rs895819-G of miR-27a and its dysfunction is not significantly associated with breast cancer by using case-control analysis in 321 breast cancer patients and 290 controls in the Chinese population. -0.4 Associations of miRNA polymorphisms and expression levels with breast cancer risk in the Chinese population. case-control analysis hsa-mir-27a miRNA Breast cancer 0.607 CACGACTTGG(T > C)GTGGACCCTG chr19: 13836478 0.6362,0.3638 0.63091711264016309,0.36908288735983690 Region score:0.57; TSS score:0.41; Unmatched score:0.75; Average GERP:2.158386138613861 GeneName:AC020916.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000267519; TranscriptID:ENST00000587762; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR23A; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207980; TranscriptID:ENST00000385245; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR24-2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284387; TranscriptID:ENST00000386972; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR27A; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207808; TranscriptID:ENST00000385073; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000107447; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ZSWIM4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000132003; TranscriptID:ENST00000254323; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003500 25556434 miR-27a rs895819 G N/A 7,813 cases and 9,602 controls EFO_0000305 N/A decreasing risk breast carcinoma rs895819-G of hsa-mir-27a and its dysfunction is significantly associated with the decreasing risk of Breast carcinoma by using meta-analysis in 7,813 cases and 9,602 controls 0.4 Association of a pre-miR-27a polymorphism with cancer risk: an updated meta-analysis. meta-analysis hsa-mir-27a miRNA Breast carcinoma 0.607 CACGACTTGG(T > C)GTGGACCCTG chr19: 13836478 0.6362,0.3638 0.63091711264016309,0.36908288735983690 Region score:0.57; TSS score:0.41; Unmatched score:0.75; Average GERP:2.158386138613861 GeneName:AC020916.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000267519; TranscriptID:ENST00000587762; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR23A; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207980; TranscriptID:ENST00000385245; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR24-2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284387; TranscriptID:ENST00000386972; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR27A; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207808; TranscriptID:ENST00000385073; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000107447; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ZSWIM4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000132003; TranscriptID:ENST00000254323; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003500 23266669 pre-mir-27a rs895819 G N/A 3,255 cases and 4,181 controls EFO_0000305 N/A decreasing risk breast carcinoma rs895819-G of hsa-mir-27a and its dysfunction is significantly associated with the decreasing risk of Breast carcinoma by using Pedigree analysis in 3,255 cases and 4,181 controls 0.4 Pre-mir-27a rs895819 polymorphism and cancer risk: a meta-analysis. Pedigree analysis hsa-mir-27a miRNA Breast carcinoma 0.607 CACGACTTGG(T > C)GTGGACCCTG chr19: 13836478 0.6362,0.3638 0.63091711264016309,0.36908288735983690 Region score:0.57; TSS score:0.41; Unmatched score:0.75; Average GERP:2.158386138613861 GeneName:AC020916.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000267519; TranscriptID:ENST00000587762; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR23A; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207980; TranscriptID:ENST00000385245; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR24-2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284387; TranscriptID:ENST00000386972; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR27A; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207808; TranscriptID:ENST00000385073; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000107447; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ZSWIM4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000132003; TranscriptID:ENST00000254323; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003501 22354554 NONHSAT013600.2 rs6479891 T N/A 814 european ancestry cases//658 european ancestry controls//2,400 controls; 1,744 european ancestry cases//7,010 european ancestry controls EFO_0002609 N/A Associate Arthritis (juvenile idiopathic) rs6479891-T of NONHSAT013600.2 is significantly associated with the arthritis (juvenile idiopathic) by using GWAS analysis in 814 european ancestry cases//658 european ancestry controls//2,400 controls; 1,744 european ancestry cases//7,010 european ancestry controls(p-value = 2E-7 ;OR = 1.19). 0.4 Genome-wide association analysis of juvenile idiopathic arthritis identifies a new susceptibility locus at chromosomal region 3q13. genome-wide association analysis NONHSAT013600.2 lncRNA Chronic childhood arthritis 0.33 TACAATGCCA(T > A,C)GAAACAAGCC chr10: 63246696 0.2095,.,0.7905 0.01713812436289500,0.13215946738022426,0.85070240825688073 Region score:0.5; TSS score:0.1; Unmatched score:0.05; Average GERP:0 GeneName:JMJD1C; CADD-Score:2; Consquence:intron; GeneID:ENSG00000171988; TranscriptID:ENST00000399262; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003502 27770636 NONHSAT189188.1 rs147597631 T N/A 1,825 african american ancestry cases//3,784 african american ancestry controls; EFO_1001870 N/A Associate Late-onset alzheimer's disease rs147597631-T of NONHSAT189188.1 is significantly associated with the late-onset alzheimer's disease by using GWAS analysis in 1,825 african american ancestry cases//3,784 african american ancestry controls; (p-value = 2E-6 ;OR = 0.18). 0.4 Two novel loci, COBL and SLC10A2, for Alzheimer's disease in African Americans. genome-wide association analysis NONHSAT189188.1 lncRNA Late-onset alzheimers disease 0.33 AGGCTGGTCT(C > T)GAGCTCCTGA chr20: 566915 0.9784,0.02157 0.98005064984709480,0.01994935015290519 Region score:0.32; TSS score:0.21; Unmatched score:0.13; Average GERP:-0.27303861386138595 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003503 20622881 NONHSAT130433.2 rs2383207 G N/A 1,292 european ancestry cases//30,503 european ancestry controls; 3,267 european ancestry cases//7,451 european ancestry controls EFO_0004214 N/A Associate Abdominal aortic aneurysm rs2383207-G of NONHSAT130433.2 is significantly associated with the abdominal aortic aneurysm by using GWAS analysis in 1,292 european ancestry cases//30,503 european ancestry controls; 3,267 european ancestry cases//7,451 european ancestry controls(p-value = 2E-8 ;OR = 1.27). 0.4 Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm. genome-wide association analysis NONHSAT130433.2 lncRNA Abdominal aortic aneurysm 0.33 GGATCCCTTC(A > G)GCTAAGCATG chr9: 22115960 0.3109,0.6891 0.34080338939857288,0.65919661060142711 Region score:0.28; TSS score:0.22; Unmatched score:0.31; Average GERP:0.5067666336633664 GeneName:CDKN2B-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000240498; TranscriptID:ENST00000428597; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01909; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277653; TranscriptID:ENST00000617921; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003504 22778062 SNORD115-34 rs72546394 T N/A N/A function N/A not significant changes in the structure function rs72546394-T of SNORD115-34 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in nan -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD115-34 snoRNA function -0.049 TGAGAACCTT(A > T)TAATGTTCTG chr15: 25232407 0.9858,0.01418 0.98737735728848114,0.01262264271151885 Region score:0.59; TSS score:0.17; Unmatched score:0.57; Average GERP:0.1861920792079208 GeneName:SNHG14; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000224078; TranscriptID:ENST00000453082; AnnoType:INTRONIC; mirSVR-Score:-1.2024; mirSVR-E:-19.17 | GeneName:SNORD115-32; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000200949; TranscriptID:ENST00000364079; AnnoType:DOWNSTREAM; mirSVR-Score:-1.2024; mirSVR-E:-19.17 | GeneName:SNORD115-33; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000200593; TranscriptID:ENST00000363723; AnnoType:DOWNSTREAM; mirSVR-Score:-1.2024; mirSVR-E:-19.17 | GeneName:SNORD115-34; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000199311; TranscriptID:ENST00000362441; AnnoType:NONCODING_CHANGE; mirSVR-Score:-1.2024; mirSVR-E:-19.17 | GeneName:SNORD115-35; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000201992; TranscriptID:ENST00000365122; AnnoType:UPSTREAM; mirSVR-Score:-1.2024; mirSVR-E:-19.17 | GeneName:SNORD115-36; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000202499; TranscriptID:ENST00000365629; AnnoType:UPSTREAM; mirSVR-Score:-1.2024; mirSVR-E:-19.17 | NCRV0000003505 25944697 H19 rs217727 T recessive 500 gastric cancer patients and 500 healthy controls. EFO_0000178 N/A increasing risk gastric carcinoma rs217727-T of H19 and its dysfunction is significantly associated with the increasing risk of Gastric carcinoma by using case-control analysis in 500 gastric cancer patients and 500 healthy controls. 0.4 Tag SNPs in long non-coding RNA H19 contribute to susceptibility to gastric cancer in the Chinese Han population. case-control analysis H19 lncRNA Gastric carcinoma 0.33 TCAACCGTCC(G > A)CCGCAGGGGG chr11: 1995678 0.7979,0.2021 1 Region score:0.7; TSS score:0.82; Unmatched score:0.94; Average GERP:-0.47433900495049497 GeneName:H19; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000130600; TranscriptID:ENST00000414790; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.5598; mirSVR-E:-26.23 | GeneName:LINC01219; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000232987; TranscriptID:ENST00000418612; AnnoType:DOWNSTREAM; mirSVR-Score:-0.5598; mirSVR-E:-26.23 | GeneName:MIR675; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000284010; TranscriptID:ENST00000390168; AnnoType:DOWNSTREAM; mirSVR-Score:-0.5598; mirSVR-E:-26.23 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000035875; AnnoType:REGULATORY; mirSVR-Score:-0.5598; mirSVR-E:-26.23 | GeneName:RF01972; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000275266; TranscriptID:ENST00000617997; AnnoType:UPSTREAM; mirSVR-Score:-0.5598; mirSVR-E:-26.23 | GeneName:RF01973; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000274866; TranscriptID:ENST00000620857; AnnoType:UPSTREAM; mirSVR-Score:-0.5598; mirSVR-E:-26.23 | NCRV0000003506 25217961 NONHSAT223344.1 rs2807031 C N/A 34,379 european ancestry cases//33,164 european ancestry controls//5,327 african ancestry cases//5,136 african ancestry controls//2,563 japanese ancestry cases//4,391 japanese ancestry controls//1,034 latino cases//1,046 latino controls EFO_0001663 N/A Associate Prostate cancer rs2807031-C of NONHSAT223344.1 is significantly associated with the prostate cancer by using GWAS analysis in 34,379 european ancestry cases//33,164 european ancestry controls//5,327 african ancestry cases//5,136 african ancestry controls//2,563 japanese ancestry cases//4,391 japanese ancestry controls//1,034 latino cases//1,046 latino controls(p-value = 3E-11 ;OR = 1.07). 0.4 A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer. genome-wide association analysis NONHSAT223344.1 lncRNA Prostate cancer 0.451 GGCCACGGGC(T > C)ATGCTTTCCC chrX: 52867918 0.125,0.875 0.82885767074413863,0.17114232925586136 Region score:0.33; TSS score:0.21; Unmatched score:0.48; Average GERP:-0.2857930693069306 GeneName:XAGE3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000171402; TranscriptID:ENST00000346279; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003506 25939597 NONHSAT223344.1 rs2807031 C N/A 4,600 european ancestry cases//2,941 european ancestry controls; 7,779 european ancestry cases//7,623 european ancestry controls EFO_0001663 N/A Associate Prostate cancer rs2807031-C of NONHSAT223344.1 is significantly associated with the prostate cancer by using GWAS analysis in 4,600 european ancestry cases//2,941 european ancestry controls; 7,779 european ancestry cases//7,623 european ancestry controls(p-value = 4E-6 ;OR = 1.15). 0.4 Two susceptibility loci identified for prostate cancer aggressiveness. genome-wide association analysis NONHSAT223344.1 lncRNA Prostate cancer 0.451 GGCCACGGGC(T > C)ATGCTTTCCC chrX: 52867918 0.125,0.875 0.82885767074413863,0.17114232925586136 Region score:0.33; TSS score:0.21; Unmatched score:0.48; Average GERP:-0.2857930693069306 GeneName:XAGE3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000171402; TranscriptID:ENST00000346279; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003507 26152337 hsa-mir-577 rs34115976 G N/a 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs34115976-G of hsa-mir-577 and its dysfunction is not significantly associated with hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors. -0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. case-control analysis hsa-mir-577 miRNA Hepatocellular cancer -0.33 CTTCATTTCC(C > G)CATATCTACT chr4: 114656841 0.896,0.104 0.87045266309887869,0.12954733690112130 Region score:0.3; TSS score:0.09; Unmatched score:0.47; Average GERP:-0.6896732673267327 GeneName:MIR577; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207931; TranscriptID:ENST00000385196; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000734018; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:UGT8; CADD-Score:2; Consquence:intron; GeneID:ENSG00000174607; TranscriptID:ENST00000310836; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003508 26192919 NONHSAT203343.1 rs6863411 T N/A 6,968 european ancestry cases//20,464 european ancestry controls; 10,679 european ancestry cases//26,715 european ancestry controls//397 iranian ancestry cases//342 iranian ancestry controls//1,239 indian ancestry cases//990 indian ancestry controls//1,134 east asian ancestry cases//3,719 east asian ancestry controls EFO_0000729 N/A Associate Ulcerative colitis rs6863411-T of NONHSAT203343.1 is significantly associated with the ulcerative colitis by using GWAS analysis in 6,968 european ancestry cases//20,464 european ancestry controls; 10,679 european ancestry cases//26,715 european ancestry controls//397 iranian ancestry cases//342 iranian ancestry controls//1,239 indian ancestry cases//990 indian ancestry controls//1,134 east asian ancestry cases//3,719 east asian ancestry controls(p-value = 6E-7 ;OR = 1.0674366). 0.4 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. genome-wide association analysis NONHSAT203343.1 lncRNA Ulcerative colitis 0.33 CTGATTAATC(A > T)CATAACTCTT chr5: 142133639 0.3337,0.6663 0.32366526503567787,0.67633473496432212 Region score:0.38; TSS score:0.2; Unmatched score:0.22; Average GERP:0.19251485148514857 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000187964; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NDFIP1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000131507; TranscriptID:ENST00000253814; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003509 24105470 NONHSAT016698.2 rs3943077 A N/A 7,827 east asian ancestry individuals; 10,252 east asian ancestry individuals EFO_0000319 N/A Associate Adiponectin levels rs3943077-A of NONHSAT016698.2 is significantly associated with the adiponectin levels by using GWAS analysis in 7,827 east asian ancestry individuals; 10,252 east asian ancestry individuals(p-value = 3E-14 ;OR = 0.07). 0.4 A meta-analysis of genome-wide association studies for adiponectin levels in East Asians identifies a novel locus near WDR11-FGFR2. genome-wide association analysis NONHSAT016698.2 lncRNA Cardiovascular disease 0.33 ACAGAGAAGG(A > G)AACTGAGACC chr10: 121185572 0.4844,0.5156 0.42963971712538226,0.57036028287461773 Region score:0.34; TSS score:0.39; Unmatched score:0.42; Average GERP:-0.3409356435643563 GeneName:LINC01153; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000227143; TranscriptID:ENST00000429809; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003510 27639821 NONHSAT166495.1 rs945177 A N/A 149 european ancestry cases//591 european ancestry controls; up to 2,534 individuals HP_0100806 N/A Associate Mortality in sepsis rs945177-A of NONHSAT166495.1 is significantly associated with the mortality in sepsis by using GWAS analysis in 149 european ancestry cases//591 european ancestry controls; up to 2,534 individuals(p-value = 1E-6 ;OR = 14.7). 0.4 Genetic Factors of the Disease Course after Sepsis: A Genome-Wide Study for 28Day Mortality. genome-wide association analysis NONHSAT166495.1 lncRNA Sepsis 0.33 CATGTTGGGC(G > A,T)CTCGCTGTAA chr13: 27047848 0.8267,0.1733,. 0.92582505096839959,0.07389621559633027,0.00027873343527013 Region score:0.42; TSS score:0.23; Unmatched score:0.15; Average GERP:-0.8202306930693071 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003511 20621067 miR-126 rs4636297 G N/a Mll-af4 all patient EFO_0000220 N/A Decreasing risk Mll-af4 all rs4636297-G of miR-126 and its dysfunction is significantly associated with the decreasing risk of MLL-AF4 ALL by using analysis of sequence variation in MLL-AF4 ALL patient. By using the disease cell lines or tissues, the mutation of miR-126 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 Alteration of processing induced by a single nucleotide polymorphism in pri-miR-126. analysis of sequence variation; Function hsa-mir-126 miRNA Acute lymphoblastic leukemia 0.593 CGCATCGAAA(A > G)CGCCGCTGAG chr9: 136670698 0.3057,0.6943 0.35495508409785932,0.64504491590214067 Region score:0.32; TSS score:0.31; Unmatched score:0.76; Average GERP:0.7106336633663374 GeneName:AGPAT2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000169692; TranscriptID:ENST00000371696; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:EGFL7; CADD-Score:2; Consquence:intron; GeneID:ENSG00000172889; TranscriptID:ENST00000371699; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR126; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000199161; TranscriptID:ENST00000362291; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000243058; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000338220; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003512 22778062 SNORA45 rs2073686 A N/a N/a function N/A Not significant changes in the structure Function rs2073686-A of SNORA45 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORA45 snoRNA Function -0.049 GGGGGCAGTC(G > A)GTGCCCCCGT chr11: 8685536 0.8169,0.1831 0.84332791794087665,0.15667208205912334 Region score:0.22; TSS score:0.3; Unmatched score:0.73; Average GERP:1.6956564356435633 GeneName:AC091053.2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000254900; TranscriptID:ENST00000534169; AnnoType:DOWNSTREAM; mirSVR-Score:-0.6197; mirSVR-E:-34.15 | GeneName:RPL27A; CADD-Score:2; Consquence:intron; GeneID:ENSG00000166441; TranscriptID:ENST00000314138; AnnoType:INTRONIC; mirSVR-Score:-0.6197; mirSVR-E:-34.15 | GeneName:SNORA3A; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000200983; TranscriptID:ENST00000364113; AnnoType:DOWNSTREAM; mirSVR-Score:-0.6197; mirSVR-E:-34.15 | GeneName:SNORA3B; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000212607; TranscriptID:ENST00000391305; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.6197; mirSVR-E:-34.15 | GeneName:TRIM66; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000166436; TranscriptID:ENST00000646038; AnnoType:UPSTREAM; mirSVR-Score:-0.6197; mirSVR-E:-34.15 | NCRV0000003513 27126917 NONHSAT203811.1 rs26877 T N/A 941 european ancestry individuals EFO_0008568 N/A Associate Night sleep phenotypes rs26877-T of NONHSAT203811.1 is significantly associated with the night sleep phenotypes by using GWAS analysis in 941 european ancestry individuals(p-value = 6E-6 ;OR = 0.2569). 0.4 Genome-wide association analysis of actigraphic sleep phenotypes in the LIFE Adult Study. genome-wide association analysis NONHSAT203811.1 lncRNA Sleep disorder 0.33 N/A N/A N/A N/A N/A N/A NCRV0000003514 27863252 NONHSAT170599.1 rs8024893 G N/A 171,529 european ancestry individuals EFO_0005192 N/A Associate Red cell distribution width rs8024893-G of NONHSAT170599.1 is significantly associated with the red cell distribution width by using GWAS analysis in 171,529 european ancestry individuals(p-value = 4E-11 ;OR = 0.03722595). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT170599.1 lncRNA Red blood cell distribution width 0.33 TGACGATGAT(A > C,G)ACACTCAAAT chr15: 31248786 0.2061,.,0.7939 0.17837347094801223,0.00140959480122324,0.82021693425076452 Region score:0.39; TSS score:0.38; Unmatched score:0.12; Average GERP:-0.8302594059405941 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000511444; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003515 26634245 NONHSAT064137.2 rs11878732 A N/A 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases EFO_0003892 N/A Associate Post bronchodilator fev1 in copd rs11878732-A of NONHSAT064137.2 is significantly associated with the post bronchodilator fev1 in copd by using GWAS analysis in 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases(p-value = 2E-7 ;OR = 0.136). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT064137.2 lncRNA Pulmonary function measurement 0.33 TAACTTTCTA(T > A)CCCATCATTC chr19: 31337942 0.6815,0.3185 0.76890609072375127,0.23109390927624872 Region score:0.32; TSS score:0.34; Unmatched score:0.28; Average GERP:1.7899405940594058 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000288041; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TSHZ3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000121297; TranscriptID:ENST00000240587; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003516 19197348 NONHSAT196500.1 rs2222328 C N/A 2,906 kosraen individuals EFO_0004342 N/A Associate Quantitative traits rs2222328-C of NONHSAT196500.1 is significantly associated with the quantitative traits by using GWAS analysis in 2,906 kosraen individuals(p-value = 8E-7 ;OR = 0.22). 0.4 Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae. genome-wide association analysis NONHSAT196500.1 lncRNA Waist circumference 0.33 ATAGATCCAC(T > C)GTAGCAAATC chr3: 159541502 0.7616,0.2384 0.83541985219164118,0.16458014780835881 Region score:0.51; TSS score:0.52; Unmatched score:0.28; Average GERP:3.013277227722774 GeneName:IQCJ-SCHIP1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000283154; TranscriptID:ENST00000485419; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003517 29083406 NONHSAT016133.2 rs10883723 C N/A 180,129 european ancestry cases//180,709 european ancestry controls EFO_0003785 N/A Associate Allergic disease (asthma//hay fever or eczema) rs10883723-C of NONHSAT016133.2 is significantly associated with the allergic disease (asthma//hay fever or eczema) by using GWAS analysis in 180,129 european ancestry cases//180,709 european ancestry controls(p-value = 2E-8 ;OR = 1.03). 0.4 Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology. genome-wide association analysis NONHSAT016133.2 lncRNA Allergy 0.33 TACCTGCTCC(T > C)ACCCTGATCT chr10: 102466075 0.7398,0.2602 0.71078618756371049,0.28921381243628950 Region score:0.71; TSS score:0.58; Unmatched score:0.92; Average GERP:0.03120049504950493 GeneName:ACTR1A; CADD-Score:2; Consquence:intron,NMD; GeneID:ENSG00000138107; TranscriptID:ENST00000636707; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MFSD13A; CADD-Score:3; Consquence:5_prime_UTR; GeneID:ENSG00000138111; TranscriptID:ENST00000238936; AnnoType:5PRIME_UTR; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RPARP-AS1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000269609; TranscriptID:ENST00000594818; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003518 27863252 NONHSAT151306.1 rs112203773 A N/A 171,542 european ancestry individuals EFO_0007990 N/A Associate Neutrophil percentage of white cells rs112203773-A of NONHSAT151306.1 is significantly associated with the neutrophil percentage of white cells by using GWAS analysis in 171,542 european ancestry individuals(p-value = 4E-9 ;OR = 0.0381765). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT151306.1 lncRNA Neutrophil percentage of leukocytes 0.33 TGTTCCGCGG(C > A,T)GGGAACGTGT chr1: 26692640 0.9712,0.02875,. 0.94548770387359836,0.05444858562691131,0.00006371049949031 Region score:0.64; TSS score:0.51; Unmatched score:0.85; Average GERP:1.3548772277227714 GeneName:AL512408.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000260063; TranscriptID:ENST00000569378; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ARID1A; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000117713; TranscriptID:ENST00000324856; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000250867; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000351584; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003519 19525953 NONHSAT108547.2 rs2523393 A N/A 2,624 european ancestry cases//7,220 european ancestry controls; 2,215 european ancestry cases//2,116 european ancestry controls EFO_0003885 N/A Associate Multiple sclerosis rs2523393-A of NONHSAT108547.2 is significantly associated with the multiple sclerosis by using GWAS analysis in 2,624 european ancestry cases//7,220 european ancestry controls; 2,215 european ancestry cases//2,116 european ancestry controls(p-value = 1E-17 ;OR = 1.28). 0.4 Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci. genome-wide association analysis NONHSAT108547.2 lncRNA Multiple sclerosis 0.33 AGGCCTAGAT(A > G,T)AACCTGACAG chr6: 29737882 0.6302,0.3698,. 0.60533734709480122,0.39465468909276248,0.00000796381243628 Region score:0.31; TSS score:0.1; Unmatched score:0.31; Average GERP:-0.15132673267326746 GeneName:HLA-F-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000214922; TranscriptID:ENST00000458236; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HLA-F; CADD-Score:2; Consquence:intron; GeneID:ENSG00000204642; TranscriptID:ENST00000465459; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MICE; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000273340; TranscriptID:ENST00000510438; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000320142; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000787144; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003520 28181414 miR-149 rs2292832 C Recessive 176 ar patients and 206 healthy chinese children as controls EFO_0005854 N/A Increasing risk Allergic rhinitis rs2292832-C of miR-149 and its dysfunction is significantly associated with the increasing risk of allergic rhinitis by using case-control analysis in 176 AR patients and 206 healthy Chinese children as controls. By using the disease cell lines or tissues, the mutation of miR-149 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 A functional variant of miRNA-149 confers risk for allergic rhinitis and comorbid asthma in Chinese children. case-control analysis; Function hsa-mir-149 miRNA Allergic rhinitis 0.593 CTGGGGCAGC(T > A,C)GGAACAACGC chr2: 240456086 0.3866,.,0.6134 0.31987449031600407,0.00025484199796126,0.67987066768603465 Region score:0.3; TSS score:0.39; Unmatched score:0.89; Average GERP:1.5002722772277222 GeneName:AC110619.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000218416; TranscriptID:ENST00000404891; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GPC1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000063660; TranscriptID:ENST00000264039; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR149; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207611; TranscriptID:ENST00000384879; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000133146; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003521 28991256 NONHSAT152805.1 rs7523273 A N/A 7,699 chinese ancestry cases//35,476 european ancestry cases//18,327 chinese ancestry controls//46,839 european ancestry controls; 4,384 chinese ancestry cases//5,770 chinese ancestry controls EFO_0000692 N/A Associate Schizophrenia rs7523273-A of NONHSAT152805.1 is significantly associated with the schizophrenia by using GWAS analysis in 7,699 chinese ancestry cases//35,476 european ancestry cases//18,327 chinese ancestry controls//46,839 european ancestry controls; 4,384 chinese ancestry cases//5,770 chinese ancestry controls(p-value = 6E-7 ;OR = 1.055). 0.4 Genome-wide association analysis identifies 30 new susceptibility loci for schizophrenia. genome-wide association analysis NONHSAT152805.1 lncRNA Schizophrenia 0.52 ACTACATAAC(A > G)CGTTATACTT chr1: 207803738 0.7466,0.2534 0.71452917940876656,0.28547082059123343 Region score:0.33; TSS score:0.22; Unmatched score:0.24; Average GERP:-1.5901405940594058 GeneName:MIR29B2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284203; TranscriptID:ENST00000385055; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR29B2CHG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000203709; TranscriptID:ENST00000608023; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR29C; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284214; TranscriptID:ENST00000385231; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003521 25056061 NONHSAT152805.1 rs7523273 A N/A 32,405 european ancestry cases//42,221 european ancestry controls//1,235 european ancestry cases and 1,235 european ancestry controls from 1235 parent-offspring trios//1,836 east asian ancestry cases//3,383 east asian ancestry controls; 1,513 european ancestry cases//66,236 european ancestry controls EFO_0000692 N/A Associate Schizophrenia rs7523273-A of NONHSAT152805.1 is significantly associated with the schizophrenia by using GWAS analysis in 32,405 european ancestry cases//42,221 european ancestry controls//1,235 european ancestry cases and 1,235 european ancestry controls from 1235 parent-offspring trios//1,836 east asian ancestry cases//3,383 east asian ancestry controls; 1,513 european ancestry cases//66,236 european ancestry controls(p-value = 4E-8 ;OR = 1.063). 0.4 Biological insights from 108 schizophrenia-associated genetic loci. genome-wide association analysis NONHSAT152805.1 lncRNA Schizophrenia 0.52 ACTACATAAC(A > G)CGTTATACTT chr1: 207803738 0.7466,0.2534 0.71452917940876656,0.28547082059123343 Region score:0.33; TSS score:0.22; Unmatched score:0.24; Average GERP:-1.5901405940594058 GeneName:MIR29B2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284203; TranscriptID:ENST00000385055; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR29B2CHG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000203709; TranscriptID:ENST00000608023; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR29C; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284214; TranscriptID:ENST00000385231; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003521 26198764 NONHSAT152805.1 rs7523273 A N/A 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls EFO_0000692 N/A Associate Schizophrenia rs7523273-A of NONHSAT152805.1 is significantly associated with the schizophrenia by using GWAS analysis in 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls(p-value = 4E-7 ;OR = 1.06). 0.4 Genome-wide association study of schizophrenia in Ashkenazi Jews. genome-wide association analysis NONHSAT152805.1 lncRNA Schizophrenia 0.52 ACTACATAAC(A > G)CGTTATACTT chr1: 207803738 0.7466,0.2534 0.71452917940876656,0.28547082059123343 Region score:0.33; TSS score:0.22; Unmatched score:0.24; Average GERP:-1.5901405940594058 GeneName:MIR29B2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284203; TranscriptID:ENST00000385055; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR29B2CHG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000203709; TranscriptID:ENST00000608023; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR29C; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284214; TranscriptID:ENST00000385231; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003522 23251661 NONHSAT170155.1 rs17102423 A N/A 815 hispanic children from 263 families EFO_0005188 N/A Associate Obesity-related traits rs17102423-A of NONHSAT170155.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 4E-7 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. genome-wide association analysis NONHSAT170155.1 lncRNA Ccl11 measurement 0.33 ACGGAGTTTC(G > T)GACTTTTCCT chr14: 65138010 0.6484,0.3516 0.62247547145769622,0.37752452854230377 Region score:0.33; TSS score:0.34; Unmatched score:0.16; Average GERP:-0.7156564356435648 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003523 22778062 SNORD116-17 rs3803327 T N/A N/A function N/A not significant changes in the structure function rs3803327-T of SNORD116-17 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in nan -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD116-17 snoRNA function -0.049 AACTCTATAC(C > T)GTCATCCTCG chr15: 25083655 0.99,0.009984 0.99701357033639143,0.00298642966360856 Region score:0.28; TSS score:0.09; Unmatched score:0.41; Average GERP:0.3370079207920789 GeneName:AC124312.3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000261069; TranscriptID:ENST00000567527; AnnoType:UPSTREAM; mirSVR-Score:-0.9228; mirSVR-E:-14.65 | GeneName:SNHG14; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000224078; TranscriptID:ENST00000640631; AnnoType:INTRONIC; mirSVR-Score:-0.9228; mirSVR-E:-14.65 | GeneName:SNORD116-13; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207137; TranscriptID:ENST00000384408; AnnoType:DOWNSTREAM; mirSVR-Score:-0.9228; mirSVR-E:-14.65 | GeneName:SNORD116-14; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000206621; TranscriptID:ENST00000383894; AnnoType:DOWNSTREAM; mirSVR-Score:-0.9228; mirSVR-E:-14.65 | GeneName:SNORD116-15; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207174; TranscriptID:ENST00000384445; AnnoType:DOWNSTREAM; mirSVR-Score:-0.9228; mirSVR-E:-14.65 | GeneName:SNORD116-16; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207263; TranscriptID:ENST00000384533; AnnoType:DOWNSTREAM; mirSVR-Score:-0.9228; mirSVR-E:-14.65 | GeneName:SNORD116-17; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000206656; TranscriptID:ENST00000383929; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.9228; mirSVR-E:-14.65 | GeneName:SNORD116-18; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000206688; TranscriptID:ENST00000383961; AnnoType:UPSTREAM; mirSVR-Score:-0.9228; mirSVR-E:-14.65 | GeneName:SNORD116-19; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207460; TranscriptID:ENST00000384729; AnnoType:UPSTREAM; mirSVR-Score:-0.9228; mirSVR-E:-14.65 | GeneName:SNORD116-20; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000278715; TranscriptID:ENST00000384529; AnnoType:UPSTREAM; mirSVR-Score:-0.9228; mirSVR-E:-14.65 | NCRV0000003524 24903457 NONHSAT182293.1 rs13390641 A N/A 7,486 korean ancestry individuals; 4,544 east asian ancestry individuals EFO_0006336 N/A Associate Blood pressure rs13390641-A of NONHSAT182293.1 is significantly associated with the blood pressure by using GWAS analysis in 7,486 korean ancestry individuals; 4,544 east asian ancestry individuals(p-value = 4E-8 ;OR = 14.4). 0.4 Identification of a genetic variant at 2q12.1 associated with blood pressure in East Asians by genome-wide scan including gene-environment interactions. genome-wide association analysis NONHSAT182293.1 lncRNA Diastolic blood pressure 0.33 GCATTTTACT(G > A)CTTAATTGTA chr2: 103419975 0.871,0.129 0.87503185524974515,0.12496814475025484 Region score:0.42; TSS score:0.39; Unmatched score:0.17; Average GERP:0.13453663366336643 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003525 28358873 NEAT1 chr11:65201466 ? Dominant 278 pRCC patients EFO_0000640 N/A poor prognosis papillary renal cell carcinoma chr11:65201466-? of NEAT1 and its dysfunction is significantly associated with the poor prognosis of Papillary renal cell carcinoma by using analysis of sequence variation in 278 pRCC patients 0.4 Whole-genome analysis of papillary kidney cancer finds significant noncoding alterations. analysis of sequence variation NEAT1 lncRNA Papillary renal cell carcinoma 0.451 - chr11:65201466 - - - - NCRV0000003525 28358873 NEAT1 chr11:65201466 - Dominant 278 prcc patients EFO_0000640 N/A Poor prognosis Papillary renal-cell carcinoma chr11:65201466 of NEAT1 and its dysfunction is significantly associated with the poor prognosis of papillary renal-cell carcinoma by using analysis of sequence variation in 278 pRCC patients . 0.4 Whole-genome analysis of papillary kidney cancer finds significant noncoding alterations. analysis of sequence variation NEAT1 lncRNA Papillary renal cell cancer 0.451 N/A N/A N/A N/A N/A N/A NCRV0000003526 28008999 NONHSAT024857.2 rs56404409 ? N/A 269 polish ancestry child cases//259 polish ancestry adult cases//582 polish ancestry controls; 121 polish ancestry child cases//85 polish ancestry adult cases//352 polish ancestry controls EFO_0000729 N/A Associate Ulcerative colitis rs56404409-? of NONHSAT024857.2 is significantly associated with the ulcerative colitis by using GWAS analysis in 269 polish ancestry child cases//259 polish ancestry adult cases//582 polish ancestry controls; 121 polish ancestry child cases//85 polish ancestry adult cases//352 polish ancestry controls(p-value = 6E-6 ;OR = 1.5007368). 0.4 Genetic architecture differences between pediatric and adult-onset inflammatory bowel diseases in the Polish population. genome-wide association analysis NONHSAT024857.2 lncRNA Ulcerative colitis 0.33 TTTAAGTCCT(G > A)TTCCTAAACA chr11: 123459759 0.8972,0.1028 0.83776917686034658,0.16223082313965341 Region score:0.26; TSS score:0.39; Unmatched score:0.54; Average GERP:-0.05346831683168318 GeneName:GRAMD1B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000023171; TranscriptID:ENST00000635736; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003527 25673412 NONHSAT036194.2 rs12885454 A N/A up to 56,910 european ancestry men//up to 86,570 european ancestry women; up to 36,570 european ancestry men//30,172 european ancestry women//915 filipino ancestry men//735 filipino ancestry women//2,351 african american/afro-caribbean ancestry men//6,258 african american/afro-caribbean ancestry women//2,285 south asian ancestry men//506 south asian ancestry women//195 seychellois ancestry men//266 seychellois ancestry women EFO_0004342 N/A Associate Waist circumference rs12885454-A of NONHSAT036194.2 is significantly associated with the waist circumference by using GWAS analysis in up to 56,910 european ancestry men//up to 86,570 european ancestry women; up to 36,570 european ancestry men//30,172 european ancestry women//915 filipino ancestry men//735 filipino ancestry women//2,351 african american/afro-caribbean ancestry men//6,258 african american/afro-caribbean ancestry women//2,285 south asian ancestry men//506 south asian ancestry women//195 seychellois ancestry men//266 seychellois ancestry women(p-value = 1E-6 ;OR = 0.0221). 0.4 New genetic loci link adipose and insulin biology to body fat distribution. genome-wide association analysis NONHSAT036194.2 lncRNA Waist circumference 0.33 TTCAATTGAC(C > A)CAATTTCCAT chr14: 29267632 0.6873,0.3127 0.72136213047910295,0.27863786952089704 Region score:0.34; TSS score:0.22; Unmatched score:0.46; Average GERP:-0.24853198019801973 GeneName:AL133166.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000257522; TranscriptID:ENST00000551040; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003528 21591024 miRNA-146a rs2910164 C N/a 1,166 brca1 and 560 brca2 mutation carriers EFO_0009443 N/A No significance for risk Breast cancer risk in brca1 and brca2 mutation carriers rs2910164-C of miRNA-146a and its dysfunction is not significantly associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers by using Pedigree analysis in 1,166 BRCA1 and 560 BRCA2 mutation carriers. -0.4 The rs2910164:G>C SNP in the MIR146A gene is not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers. Pedigree analysis hsa-mir-146a miRNA Brcax breast cancer -0.33 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 N/A 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003529 24475105 miR-101 rs7536540 C N/a 1064 breast cancer cases and 1073 cancer-free controls EFO_0000305 N/A No significance for risk Breast cancer rs7536540-C of miR-101 and its dysfunction is not significantly associated with breast cancer by using case-control analysis in 1064 breast cancer cases and 1073 cancer-free controls. -0.4 Genetic variations in the flanking regions of miR-101-2 are associated with increased risk of breast cancer. case-control analysis hsa-mir-101-1 miRNA Breast cancer -0.33 GGAACTACTA(C > G)GTTCTAAAGC chr1: 65058899 0.3812,0.6188 0.36123853211009174,0.63876146788990825 Region score:0.35; TSS score:0.17; Unmatched score:0.24; Average GERP:-0.31819504950495053 GeneName:MIR101-1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000199135; TranscriptID:ENST00000362265; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3671; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000265996; TranscriptID:ENST00000580455; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003530 28739976 NONHSAT119718.2 rs1859168 C N/A 150,134 european ancestry individuals; 87,359 european ancestry individuals//140,886 european and unknown ancestry individuals EFO_0006336 N/A Associate Diastolic blood pressure rs1859168-C of NONHSAT119718.2 is significantly associated with the diastolic blood pressure by using GWAS analysis in 150,134 european ancestry individuals; 87,359 european ancestry individuals//140,886 european and unknown ancestry individuals(p-value = 1E-8 ;OR = 0.464). 0.4 Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.LID - HYPERTENSIONAHA.117.09438 [pii]LID - 10.1161/HYPERTENSIONAHA.117.09438 [doi]AB - Elevated blood pressure genome-wide association analysis NONHSAT119718.2 lncRNA Diastolic blood pressure 0.33 AAGCTTGGGG(A > C,G,T)CTGAATTCTT chr7: 27202740 0.131,0.869,.,. 0.05706867991845056,0.91546413098878695,0.01676382517838939,0.01070336391437308 Region score:0.23; TSS score:0.39; Unmatched score:0.6; Average GERP:0.2936633663366335 GeneName:HOTTIP; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000243766; TranscriptID:ENST00000521028; AnnoType:INTRONIC; mirSVR-Score:-0.6879; mirSVR-E:-15.84 | GeneName:HOXA13; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000106031; TranscriptID:ENST00000222753; AnnoType:UPSTREAM; mirSVR-Score:-0.6879; mirSVR-E:-15.84 | GeneName:RF02040; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000276609; TranscriptID:ENST00000620415; AnnoType:DOWNSTREAM; mirSVR-Score:-0.6879; mirSVR-E:-15.84 | GeneName:RF02041; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000278708; TranscriptID:ENST00000616633; AnnoType:DOWNSTREAM; mirSVR-Score:-0.6879; mirSVR-E:-15.84 | GeneName:RF02042; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000277469; TranscriptID:ENST00000619957; AnnoType:DOWNSTREAM; mirSVR-Score:-0.6879; mirSVR-E:-15.84 | GeneName:RF02043; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277553; TranscriptID:ENST00000618195; AnnoType:UPSTREAM; mirSVR-Score:-0.6879; mirSVR-E:-15.84 | NCRV0000003531 28135244 NONHSAT091726.2 rs17282160 T N/A 140,886 european ancestry individuals; 190,318 european ancestry individuals EFO_0006336 N/A Associate Diastolic blood pressure rs17282160-T of NONHSAT091726.2 is significantly associated with the diastolic blood pressure by using GWAS analysis in 140,886 european ancestry individuals; 190,318 european ancestry individuals(p-value = 5E-6 ;OR = 0.1578). 0.4 Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk. genome-wide association analysis NONHSAT091726.2 lncRNA Diastolic blood pressure 0.33 CACAAAGCAC(C > T)GGTCAAGATC chr3: 127499961 0.9115,0.08846 0.86361174821610601,0.13638825178389398 Region score:0.19; TSS score:0.08; Unmatched score:0.06; Average GERP:-0.08982000000000005 GeneName:LINC01471; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000239921; TranscriptID:ENST00000461398; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003532 21743469 NONHSAT003779.2 rs11209026 G N/A 3,023 european ancestry cases//8,779 european ancestry controls; 2,111 european ancestry cases//4,483 european ancestry controls EFO_0003898 N/A Associate Ankylosing spondylitis rs11209026-G of NONHSAT003779.2 is significantly associated with the ankylosing spondylitis by using GWAS analysis in 3,023 european ancestry cases//8,779 european ancestry controls; 2,111 european ancestry cases//4,483 european ancestry controls(p-value = 2E-17 ;OR = ?). 0.4 Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility. genome-wide association analysis NONHSAT003779.2 lncRNA Ankylosing spondylitis 0.451 AGATCATTCC(G > A)AACTGGGTAG chr1: 67240275 0.9772,0.02276 0.95546636085626911,0.04453363914373088 Region score:0.42; TSS score:0.36; Unmatched score:0.6; Average GERP:1.6307445544554449 GeneName:IL23R; CADD-Score:7; Consquence:missense; GeneID:ENSG00000162594; TranscriptID:ENST00000347310; AnnoType:NON_SYNONYMOUS; mirSVR-Score:-1.3115; mirSVR-E:-14.41 | NCRV0000003532 20062062 NONHSAT003779.2 rs11209026 ? N/A 2,053 european ancestry cases//5,140 european ancestry controls; 898 european ancestry cases//1,518 european ancestry controls EFO_0003898 N/A Associate Ankylosing spondylitis rs11209026-? of NONHSAT003779.2 is significantly associated with the ankylosing spondylitis by using GWAS analysis in 2,053 european ancestry cases//5,140 european ancestry controls; 898 european ancestry cases//1,518 european ancestry controls(p-value = 9E-14 ;OR = 1.89). 0.4 Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci. genome-wide association analysis NONHSAT003779.2 lncRNA Ankylosing spondylitis 0.451 AGATCATTCC(G > A)AACTGGGTAG chr1: 67240275 0.9772,0.02276 0.95546636085626911,0.04453363914373088 Region score:0.42; TSS score:0.36; Unmatched score:0.6; Average GERP:1.6307445544554449 GeneName:IL23R; CADD-Score:7; Consquence:missense; GeneID:ENSG00000162594; TranscriptID:ENST00000347310; AnnoType:NON_SYNONYMOUS; mirSVR-Score:-1.3115; mirSVR-E:-14.41 | NCRV0000003533 27021288 NONHSAT155513.1 rs140265971 A N/A 1,060 european ancestry adult cases HP_0000718 N/A Associate Aggressiveness in attention deficit hyperactivity disorder rs140265971-A of NONHSAT155513.1 is significantly associated with the aggressiveness in attention deficit hyperactivity disorder by using GWAS analysis in 1,060 european ancestry adult cases(p-value = 7E-6 ;OR = 3.1539). 0.4 Genome-wide analyses of aggressiveness in attention-deficit hyperactivity disorder. genome-wide association analysis NONHSAT155513.1 lncRNA Aggressive behavior 0.33 ACAGTATTAG(G > A)GTGGGAGTGT chr10: 57552143 0.9798,0.02017 0.97080466360856269,0.02919533639143730 Region score:0.2; TSS score:0.03; Unmatched score:0; Average GERP:0 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003534 28247064 NONHSAT172359.1 rs656900 C N/A 3,146 individuals EFO_0000249 N/A Associate Cerebrospinal p-tau181p levels rs656900-C of NONHSAT172359.1 is significantly associated with the cerebrospinal p-tau181p levels by using GWAS analysis in 3,146 individuals(p-value = 8E-6 ;OR = 0.031). 0.4 Genome-wide association study identifies four novel loci associated with Alzheimer's endophenotypes and disease modifiers. genome-wide association analysis NONHSAT172359.1 lncRNA Alzheimers disease 0.33 AATTCTACTT(T > C)GAGGTATTTA chr15: 79809690 0.6711,0.3289 0.70251178644240570,0.29748821355759429 Region score:0.3; TSS score:0.12; Unmatched score:0.02; Average GERP:-0.5106299801980196 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003535 26007630 NONHSAT208975.1 rs6919908 T N/A 2,194 european ancestry multiple myeloma cases//251 european ancestry monoclonal gammopathy cases//294,390 european ancestry controls; 586 european ancestry multiple myeloma cases//2,111 european ancestry controls EFO_0000203 N/A Associate Multiple myeloma and monoclonal gammopathy rs6919908-T of NONHSAT208975.1 is significantly associated with the multiple myeloma and monoclonal gammopathy by using GWAS analysis in 2,194 european ancestry multiple myeloma cases//251 european ancestry monoclonal gammopathy cases//294,390 european ancestry controls; 586 european ancestry multiple myeloma cases//2,111 european ancestry controls(p-value = 6E-10 ;OR = 0.23). 0.4 Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma. genome-wide association analysis NONHSAT208975.1 lncRNA Monoclonal gammopathy 0.33 CATACATCTG(T > C)GACAGGGGAT chr6: 31277183 0.1466,0.8534 0.17508441641182466,0.82491558358817533 Region score:0.27; TSS score:0.41; Unmatched score:0.46; Average GERP:0.05903947368421048 GeneName:HLA-B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000234745; TranscriptID:ENST00000640615; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RPL3P2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000227939; TranscriptID:ENST00000413027; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:USP8P1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000214892; TranscriptID:ENST00000494673; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003536 24324551 NONHSAT152243.1 rs631288 ? N/A 580 brazilian ancestry individuals EFO_0005529 N/A Associate Pr interval in tripanosoma cruzi seropositivity rs631288-? of NONHSAT152243.1 is significantly associated with the pr interval in tripanosoma cruzi seropositivity by using GWAS analysis in 580 brazilian ancestry individuals(p-value = 3E-6 ;OR = ?). 0.4 Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects. genome-wide association analysis NONHSAT152243.1 lncRNA Chagas cardiomyopathy 0.33 TCATTTCTTC(C > A,T)GATTCATCCC chr1: 147507700 0.9776,.,0.02236 0.97047018348623853,0.00000796381243628,0.02952185270132517 Region score:0.49; TSS score:0.22; Unmatched score:0.14; Average GERP:0.12179306930693078 GeneName:LINC00624; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000278811; TranscriptID:ENST00000621316; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003537 23906647 miR-96 rs2402960 ? N/A 695 adults with ADHD (266 and 396 subjects with and without comorbid SUD, respectively), 403 subjects with SUD without life-time diagnosis of ADHD and 485 sex-matched controls from Spain EFO_0003888 N/A no significance for risk attention deficit hyperactivity disorder rs2402960-? of hsa-mir-96 and its dysfunction is not significantly associated with Attention deficit hyperactivity disorder by using case-control analysis in 695 adults with ADHD (266 and 396 subjects with and without comorbid SUD, respectively), 403 subjects with SUD without life-time diagnosis of ADHD and 485 sex-matched controls from Spain -0.4 Evaluation of single nucleotide polymorphisms in the miR-183-96-182 cluster in adulthood attention-deficit and hyperactivity disorder (ADHD) and substance use disorders (SUDs). case-control analysis hsa-mir-96 miRNA Attention deficit hyperactivity disorder -0.33 CACCACAGCA(C > T)GGGTGCCCTC chr7: 129765934 0.2638,0.7362 0.28230122324159021,0.71769877675840978 Region score:0.22; TSS score:0.18; Unmatched score:0.13; Average GERP:-0.5285662376237624 GeneName:MIR182; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207990; TranscriptID:ENST00000385255; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003538 28636993 circ-ITCH rs7266300 T N/A 1,600 HCC cases and 1,800 cancer-free controls EFO_0000182 N/A no significance for risk hepatocellular carcinoma rs7266300-T of circ-ITCH and its dysfunction is not significantly associated with Hepatocellular carcinoma by using case-control analysis in 1,600 HCC cases and 1,800 cancer-free controls -0.4 Polymorphisms and expression pattern of circular RNA circ-ITCH contributes to the carcinogenesis of hepatocellular carcinoma. case-control analysis circ-ITCH circRNA Hepatocellular carcinoma -0.33 ATGTCTGGGA(A > G,T)GTTTTTTTTT chr20: 34449603 0.9311,.,0.06889 0.94187213302752293,.,0.05812786697247706 Region score:0.24; TSS score:0.02; Unmatched score:0.16; Average GERP:-0.30290800000000007 GeneName:ITCH; CADD-Score:2; Consquence:intron; GeneID:ENSG00000078747; TranscriptID:ENST00000262650; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ITCH-IT1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000231795; TranscriptID:ENST00000418598; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003539 27515689 NONHSAT056843.2 rs62091368 A N/A 1,245 european ancestry individuals EFO_0001663 radiotherapy Associate Response to radiotherapy in prostate cancer (toxicity//decreased urine stream) rs62091368-A of NONHSAT056843.2 is significantly associated with the response to radiotherapy in prostate cancer (toxicity//decreased urine stream) by using GWAS analysis in 1,245 european ancestry individuals(p-value = 4E-6 ;OR = 4.36). 0.4 Meta-analysis of Genome Wide Association Studies Identifies Genetic Markers of Late Toxicity Following Radiotherapy for Prostate Cancer. genome-wide association analysis NONHSAT056843.2 lncRNA Prostate cancer 0.33 TTTCCTGTTC(G > A,C)TCAGCGCCTA chr18: 514471 0.9485,0.05152,. 0.94059792303771661,0.05939411314984709,0.00000796381243628 Region score:0.27; TSS score:0.28; Unmatched score:0.19; Average GERP:-0.6906465346534658 GeneName:LINC01925; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000264265; TranscriptID:ENST00000579492; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000567281; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003540 27182965 NONHSAT183166.1 rs17400325 ? N/A 106,086 european ancestry cases//85,757 european ancestry controls HP_0000545 N/A Associate Myopia rs17400325-? of NONHSAT183166.1 is significantly associated with the myopia by using GWAS analysis in 106,086 european ancestry cases//85,757 european ancestry controls(p-value = 1E-20 ;OR = 1.1848341). 0.4 Detection and interpretation of shared genetic influences on 42 human traits. genome-wide association analysis NONHSAT183166.1 lncRNA Myopia 0.33 AGAGGTTCCA(T > C)AGAGTTGGGC chr2: 177701185 0.9778,0.02216 0.97167271916411824,0.02832728083588175 Region score:0.33; TSS score:0.41; Unmatched score:0.49; Average GERP:3.1736435643564342 GeneName:AC012499.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000229941; TranscriptID:ENST00000412133; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PDE11A; CADD-Score:7; Consquence:missense; GeneID:ENSG00000128655; TranscriptID:ENST00000286063; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PDE11A; CADD-Score:7; Consquence:missense; GeneID:ENSG00000284741; TranscriptID:ENST00000358450; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003541 28441456 NONHSAT167992.1 rs140008767 G N/A 2,187 european ancestry individuals EFO_0007841 N/A Associate Facial morphology (factor 18) rs140008767-G of NONHSAT167992.1 is significantly associated with the facial morphology (factor 18) by using GWAS analysis in 2,187 european ancestry individuals(p-value = 4E-7 ;OR = 0.3317). 0.4 Genome-wide association study of facial morphology reveals novel associations with FREM1 and PARK2. genome-wide association analysis NONHSAT167992.1 lncRNA Facial morphology measurement 0.33 TACATTTCCC(A > G)TGTGTCTTGC chr13: 106005571 0.9848,0.01518 0.97106746941896024,0.02893253058103975 Region score:0.27; TSS score:0.26; Unmatched score:0.09; Average GERP:-0.6066039603960396 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000489934; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003542 27863252 NONHSAT093154.2 rs9811216 C N/A 170,672 european ancestry individuals EFO_0007994 N/A Associate Neutrophil percentage of granulocytes rs9811216-C of NONHSAT093154.2 is significantly associated with the neutrophil percentage of granulocytes by using GWAS analysis in 170,672 european ancestry individuals(p-value = 6E-14 ;OR = 0.03071594). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT093154.2 lncRNA Neutrophil percentage of granulocytes 0.33 CTCCTCATGT(T > C)ACCGCCCGCT chr3: 169769713 0.6166,0.3834 0.68753185524974515,0.31246814475025484 Region score:0.5; TSS score:0.43; Unmatched score:0.9; Average GERP:-2.3033970297029707 GeneName:AC078802.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000269889; TranscriptID:ENST00000602879; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ACTRT3; CADD-Score:3; Consquence:5_prime_UTR; GeneID:ENSG00000184378; TranscriptID:ENST00000330368; AnnoType:5PRIME_UTR; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYNN; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000085274; TranscriptID:ENST00000349841; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000161539; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000708233; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF00024; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277925; TranscriptID:ENST00000363312; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TERC; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000270141; TranscriptID:ENST00000602385; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003543 22158537 NONHSAT174630.1 rs17797882 T N/A 5,999 east asian ancestry cases//9,001 east asian ancestry controls//794 malay ancestry cases//1,240 malay ancestry controls//159 filipino ancestry cases//1,624 filipino ancestry controls; 18,127 east asian ancestry cases//17,746 east asian ancestry controls EFO_0001360 N/A Associate Type 2 diabetes rs17797882-T of NONHSAT174630.1 is significantly associated with the type 2 diabetes by using GWAS analysis in 5,999 east asian ancestry cases//9,001 east asian ancestry controls//794 malay ancestry cases//1,240 malay ancestry controls//159 filipino ancestry cases//1,624 filipino ancestry controls; 18,127 east asian ancestry cases//17,746 east asian ancestry controls(p-value = 9E-7 ;OR = 1.08). 0.4 Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians. genome-wide association analysis NONHSAT174630.1 lncRNA Type ii diabetes mellitus 0.33 AAAATATATG(C > G,T)GGGACCATGG chr16: 79373021 0.9195,.,0.08047 0.95368246687054026,0.00000796381243628,0.04630956931702344 Region score:0.35; TSS score:0.32; Unmatched score:0.22; Average GERP:-2.280012574257426 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000543093; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003544 27863252 NONHSAT199163.1 rs4835473 T N/A 170,548 european ancestry individuals EFO_0007986 N/A Associate Immature fraction of reticulocytes rs4835473-T of NONHSAT199163.1 is significantly associated with the immature fraction of reticulocytes by using GWAS analysis in 170,548 european ancestry individuals(p-value = 1E-41 ;OR = 0.05190101). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT199163.1 lncRNA Reticulocyte count 0.33 TTGAAATATA(A > T)AAAAGAGAGA chr4: 143982419 0.2778,0.7222 0.29387264271151885,0.70612735728848114 Region score:0.13; TSS score:0.07; Unmatched score:0.28; Average GERP:0.06254485148514859 GeneName:AC139713.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000251600; TranscriptID:ENST00000509873; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003545 28177126 SNORD118 rs117735243 ? Dominant 8 unrelated families with lcc Orphanet_313838 N/A Increasing risk Leukoencephalopathy with brain calcifications and cysts rs117735243-? of SNORD118 and its dysfunction is significantly associated with the increasing risk of Leukoencephalopathy with brain calcifications and cysts by using Pedigree analysis in 8 unrelated families with LCC. 0.4 Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts. Pedigree analysis SNORD118 snoRNA Coats plus syndrome 0.33 CCCACCTGAC(G > A,C,T)ATACAGACAA chr17: 8173586 0.9984,0.001597,.,. 0.99901248725790010,0.00091583843017329,0.00007167431192660,. Region score:0.65; TSS score:0.47; Unmatched score:0.9; Average GERP:-0.3170891089108914 GeneName:AC129492.4; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000266824; TranscriptID:ENST00000581248; AnnoType:UPSTREAM; mirSVR-Score:-0.5644; mirSVR-E:-15.33 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000282324; AnnoType:REGULATORY; mirSVR-Score:-0.5644; mirSVR-E:-15.33 | GeneName:SNORD118; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000200463; TranscriptID:ENST00000363593; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.5644; mirSVR-E:-15.33 | GeneName:TMEM107; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000179029; TranscriptID:ENST00000316425; AnnoType:DOWNSTREAM; mirSVR-Score:-0.5644; mirSVR-E:-15.33 | NCRV0000003546 26818947 NONHSAT170687.1 rs67839313 C N/A 15,463 japanese ancestry cases//26,183 japanese ancestry controls; 20,490 east asian ancestry cases//22,922 east asian ancestry controls//38,947 european ancestry cases//121,903 european ancestry controls//10,587 south asian ancestry cases//14,378 south asian ancestry controls//3,848 mexican/latino cases//4,366 mexican/latino controls EFO_0001360 N/A Associate Type 2 diabetes rs67839313-C of NONHSAT170687.1 is significantly associated with the type 2 diabetes by using GWAS analysis in 15,463 japanese ancestry cases//26,183 japanese ancestry controls; 20,490 east asian ancestry cases//22,922 east asian ancestry controls//38,947 european ancestry cases//121,903 european ancestry controls//10,587 south asian ancestry cases//14,378 south asian ancestry controls//3,848 mexican/latino cases//4,366 mexican/latino controls(p-value = 2E-8 ;OR = 1.09). 0.4 Genome-wide association studies in the Japanese population identify seven novel loci for type 2 diabetes. genome-wide association analysis NONHSAT170687.1 lncRNA Type ii diabetes mellitus 0.33 GGAAAAAGTC(T > C)GCCCTTCTTT chr15: 40327523 0.7813,0.2187 0.84881498470948012,0.15118501529051987 Region score:0.37; TSS score:0.51; Unmatched score:0.54; Average GERP:3.662217821782179 GeneName:CCDC9B; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000188549; TranscriptID:ENST00000397536; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:INAFM2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000259330; TranscriptID:ENST00000638170; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RNA5SP392; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000252714; TranscriptID:ENST00000516905; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003547 27863252 NONHSAT193035.1 rs5769707 T N/A 170,494 european ancestry individuals EFO_0007989 N/A Associate Monocyte percentage of white cells rs5769707-T of NONHSAT193035.1 is significantly associated with the monocyte percentage of white cells by using GWAS analysis in 170,494 european ancestry individuals(p-value = 3E-10 ;OR = 0.02297405). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT193035.1 lncRNA Monocypte percentage of leukocytes 0.33 AAGCTAATTA(G > T)CGCAGCCTCA chr22: 49619754 0.5715,0.4285 0.51951134046890927,0.48048865953109072 Region score:0.37; TSS score:0.4; Unmatched score:0.53; Average GERP:0.04362371134020618 GeneName:C22orf34; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000188511; TranscriptID:ENST00000343999; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.2632; mirSVR-E:-10.22 | GeneName:Z97192.3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000235111; TranscriptID:ENST00000420902; AnnoType:UPSTREAM; mirSVR-Score:-0.2632; mirSVR-E:-10.22 | NCRV0000003548 25017104 NONHSAT172113.1 rs8041227 G N/A 657 european ancestry cases//9,296 european ancestry controls EFO_0004232 N/A Associate Eosinophilic esophagitis rs8041227-G of NONHSAT172113.1 is significantly associated with the eosinophilic esophagitis by using GWAS analysis in 657 european ancestry cases//9,296 european ancestry controls(p-value = 6E-10 ;OR = 1.52). 0.4 Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease. genome-wide association analysis NONHSAT172113.1 lncRNA Eosinophilic esophagitis 0.33 ATTGAGAAGA(G > A)GAGCCCAGCC chr15: 31246339 0.8984,0.1016 0.83198744903160040,0.16801255096839959 Region score:0.36; TSS score:0.37; Unmatched score:0.12; Average GERP:-0.4528356435643564 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003549 26621817 NONHSAT159414.1 rs606460 G N/A 5,725 european ancestry colorectal carcinoma cases//2,212 european ancestry endometrial carcinoma cases//13,396 european ancestry controls EFO_0005842 N/A Associate Colorectal or endometrial cancer rs606460-G of NONHSAT159414.1 is significantly associated with the colorectal or endometrial cancer by using GWAS analysis in 5,725 european ancestry colorectal carcinoma cases//2,212 european ancestry endometrial carcinoma cases//13,396 european ancestry controls(p-value = 4E-6 ;OR = 1.11). 0.4 Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1. genome-wide association analysis NONHSAT159414.1 lncRNA Colorectal cancer 0.33 CGAGGCCTCT(A > C,G)TCCACTCATT chr11: 75537412 0.387,.,0.613 0.34556574923547400,0.00001592762487257,0.65441832313965341 Region score:0.49; TSS score:0.45; Unmatched score:0.56; Average GERP:-0.3426469306930694 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000435805; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003550 26989097 NONHSAT196902.1 rs9875578 ? N/A up to 902 european ancestry cases//up to 78 cases EFO_0006788 N/A Associate Response to cognitive-behavioural therapy in anxiety disorder rs9875578-? of NONHSAT196902.1 is significantly associated with the response to cognitive-behavioural therapy in anxiety disorder by using GWAS analysis in up to 902 european ancestry cases//up to 78 cases(p-value = 1E-6 ;OR = ?). 0.4 Genome-wide association study of response to cognitive-behavioural therapy in children with anxiety disorders. genome-wide association analysis NONHSAT196902.1 lncRNA Anxiety disorder 0.33 TTTGCCTCCT(G > A,C)GGTTCAAGCG chr3: 13752941 0.5407,0.4593,. 0.49773031345565749,0.50157683486238532,0.00069285168195718 Region score:0.12; TSS score:0.13; Unmatched score:0.01; Average GERP:0.06892079207920793 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003551 27989323 NONHSAT193808.1 rs137933720 C N/A 8,243 finnish ancestry individuals EFO_0005140 N/A Associate Macrophage inflammatory protein 1b levels rs137933720-C of NONHSAT193808.1 is significantly associated with the macrophage inflammatory protein 1b levels by using GWAS analysis in 8,243 finnish ancestry individuals(p-value = 4E-8 ;OR = 0.2566). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. genome-wide association analysis NONHSAT193808.1 lncRNA Autoimmune disease 0.33 GGGCCACATA(C > T)CTACCCTTGA chr3: 43908879 0.9986,0.001398 0.99867004332313965,0.00132995667686034 Region score:0.3; TSS score:0.47; Unmatched score:0.16; Average GERP:-0.951833663366336 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000684203; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003552 27863252 NONHSAT197523.1 rs6782228 C N/A 170,702 european ancestry individuals EFO_0004833 N/A Associate Neutrophil count rs6782228-C of NONHSAT197523.1 is significantly associated with the neutrophil count by using GWAS analysis in 170,702 european ancestry individuals(p-value = 6E-17 ;OR = 0.03407596). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT197523.1 lncRNA Neutrophil count 0.33 AGCCAGGCAG(G > C)ACTGGACTTG chr3: 128604581 0.6859,0.3141 0.71094546381243628,0.28905453618756371 Region score:0.25; TSS score:0.41; Unmatched score:0.29; Average GERP:-0.473041287128713 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000700244; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003553 20171287 NONHSAT194156.1 rs10511089 ? N/A 740 european ancestry individuals EFO_0004464 N/A Associate Brain structure rs10511089-? of NONHSAT194156.1 is significantly associated with the brain structure by using GWAS analysis in 740 european ancestry individuals(p-value = 7E-7 ;OR = ?). 0.4 Voxelwise genome-wide association study (vGWAS). genome-wide association analysis NONHSAT194156.1 lncRNA Brain measurement 0.33 TGGACTTGGA(G > T)AAATTCTGAG chr3: 84431917 0.9038,0.09625 0.90950719928644240,0.09049280071355759 Region score:0.36; TSS score:0.25; Unmatched score:0.06; Average GERP:-0.3753864356435646 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003554 22778062 SNORD115-11 rs72546380 A N/a N/a function N/A Not significant changes in the structure Function rs72546380-A of SNORD115-11 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD115-11 snoRNA Function -0.049 ATAGGATTAC(G > A,C,T)CTGAGGCCCA chr15: 25189486 0.9974,0.002596,.,. 0.99726044852191641,0.00273955147808358,.,. Region score:0.25; TSS score:0.13; Unmatched score:0.45; Average GERP:-0.24399009900990098 GeneName:SNHG14; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000224078; TranscriptID:ENST00000414175; AnnoType:INTRONIC; mirSVR-Score:-0.0172; mirSVR-E:-17.97 | GeneName:SNORD115-10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000201943; TranscriptID:ENST00000365073; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0172; mirSVR-E:-17.97 | GeneName:SNORD115-11; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000200486; TranscriptID:ENST00000363616; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0172; mirSVR-E:-17.97 | GeneName:SNORD115-12; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000199453; TranscriptID:ENST00000362583; AnnoType:UPSTREAM; mirSVR-Score:-0.0172; mirSVR-E:-17.97 | GeneName:SNORD115-13; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000273835; TranscriptID:ENST00000363358; AnnoType:UPSTREAM; mirSVR-Score:-0.0172; mirSVR-E:-17.97 | GeneName:SNORD115-9; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000199782; TranscriptID:ENST00000362912; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0172; mirSVR-E:-17.97 | NCRV0000003555 27723756 NONHSAT159782.1 rs7113056 C N/A 1,812 european ancestry individuals EFO_0007874 bacterial taxa Associate Gut microbiota (bacterial taxa) rs7113056-C of NONHSAT159782.1 is significantly associated with the gut microbiota (bacterial taxa) by using GWAS analysis in 1,812 european ancestry individuals(p-value = 2E-13 ;OR = 0.5). 0.4 Genome-wide association analysis identifies variation in vitamin D receptor and other host factors influencing the gut microbiota. genome-wide association analysis NONHSAT159782.1 lncRNA Gut microbiome measurement 0.33 TGGGCTCAAG(C > T)GATCCACCTC chr11: 122227835 0.7873,0.2127 0.86432052752293577,0.13567947247706422 Region score:0.31; TSS score:0.23; Unmatched score:0.11; Average GERP:-0.305856415841584 GeneName:MIR100HG; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000255248; TranscriptID:ENST00000527474; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003556 26621817 NONHSAT023343.2 rs11607499 T N/A 5,725 european ancestry colorectal carcinoma cases//2,212 european ancestry endometrial carcinoma cases//13,396 european ancestry controls EFO_1001512 N/A Associate Colorectal or endometrial cancer rs11607499-T of NONHSAT023343.2 is significantly associated with the colorectal or endometrial cancer by using GWAS analysis in 5,725 european ancestry colorectal carcinoma cases//2,212 european ancestry endometrial carcinoma cases//13,396 european ancestry controls(p-value = 2E-6 ;OR = 1.27). 0.4 Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1. genome-wide association analysis NONHSAT023343.2 lncRNA Endometrial cancer 0.33 GATCTGGCAA(T > C)CCTTCTCCTT chr11: 82100187 0.9299,0.07009 0.96185333843017329,0.03814666156982670 Region score:0.46; TSS score:0.08; Unmatched score:0.45; Average GERP:-0.05529702970297029 GeneName:MIR4300HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000245832; TranscriptID:ENST00000500502; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003557 26068415 NONHSAT183488.1 rs715 T N/A up to 7,478 european ancestry individuals; 1,182 european ancestry individuals EFO_0004725 N/A Associate Amino acid levels rs715-T of NONHSAT183488.1 is significantly associated with the amino acid levels by using GWAS analysis in up to 7,478 european ancestry individuals; 1,182 european ancestry individuals(p-value = 3E-11 ;OR = 0.0311). 0.4 Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels. genome-wide association analysis NONHSAT183488.1 lncRNA Metabolite measurement 0.33 TTCTGAACTC(T > C)TTCTATACTT chr2: 210678331 0.7638,0.2362 0.72770928899082568,0.27229071100917431 Region score:0.52; TSS score:0.86; Unmatched score:0.84; Average GERP:0.6805089108910892 GeneName:CPS1; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000021826; TranscriptID:ENST00000430249; AnnoType:3PRIME_UTR; mirSVR-Score:-1.1081; mirSVR-E:-13.72 | NCRV0000003558 28441456 NONHSAT177004.1 rs143314913 A N/A 2,187 european ancestry individuals EFO_0007841 N/A Associate Facial morphology (factor 16) rs143314913-A of NONHSAT177004.1 is significantly associated with the facial morphology (factor 16) by using GWAS analysis in 2,187 european ancestry individuals(p-value = 1E-6 ;OR = 0.5785). 0.4 Genome-wide association study of facial morphology reveals novel associations with FREM1 and PARK2. genome-wide association analysis NONHSAT177004.1 lncRNA Facial morphology measurement 0.33 GGGTGGTGCC(G > A)CCAGAGGGCA chr17: 49860329 0.994,0.00599 0.98862767584097859,0.01137232415902140 Region score:0.48; TSS score:0.36; Unmatched score:0.24; Average GERP:-0.29108069306930695 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000283680; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003559 19820698 NONHSAT206981.1 rs198846 A N/A 6,316 european ancestry individuals//9,685 indian asian ancestry individuals; 5,187 european ancestry individuals//6,721 indian asian ancestry individuals EFO_0004509 N/A Associate Hemoglobin rs198846-A of NONHSAT206981.1 is significantly associated with the hemoglobin by using GWAS analysis in 6,316 european ancestry individuals//9,685 indian asian ancestry individuals; 5,187 european ancestry individuals//6,721 indian asian ancestry individuals(p-value = 1E-8 ;OR = ?). 0.4 Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels. genome-wide association analysis NONHSAT206981.1 lncRNA Hemoglobin measurement 0.451 GTGGCCGGGG(A > G,T)AATGAGGACC chr6: 26107235 0.1072,0.8928,. 0.12598751274209989,0.86556288226299694,0.00844960499490316 Region score:0.31; TSS score:0.11; Unmatched score:0.15; Average GERP:0.041252475247524754 GeneName:HIST1H1T; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000187475; TranscriptID:ENST00000338379; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HIST1H4C; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000197061; TranscriptID:ENST00000377803; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003559 28017375 NONHSAT206981.1 rs198846 ? N/A up to 40,258 european ancestry individuals//16,128 african american individuals//up to 15,252 east asian ancestry individuals.; 16,389 european and african american individuals EFO_0004509 N/A Associate Hemoglobin levels rs198846-? of NONHSAT206981.1 is significantly associated with the hemoglobin levels by using GWAS analysis in up to 40,258 european ancestry individuals//16,128 african american individuals//up to 15,252 east asian ancestry individuals.; 16,389 european and african american individuals(p-value = 1E-8 ;OR = ?). 0.4 Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis. genome-wide association analysis NONHSAT206981.1 lncRNA Hemoglobin measurement 0.451 GTGGCCGGGG(A > G,T)AATGAGGACC chr6: 26107235 0.1072,0.8928,. 0.12598751274209989,0.86556288226299694,0.00844960499490316 Region score:0.31; TSS score:0.11; Unmatched score:0.15; Average GERP:0.041252475247524754 GeneName:HIST1H1T; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000187475; TranscriptID:ENST00000338379; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HIST1H4C; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000197061; TranscriptID:ENST00000377803; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003560 28931965 PTENP1 rs7853346 G dominant 768 Gastric Cancer patients and 768 cancer-free controls in a Chinese population EFO_0000178 N/A decreasing risk gastric carcinoma rs7853346-G of PTENP1 and its dysfunction is significantly associated with the decreasing risk of Gastric carcinoma by using case-control analysis in 768 Gastric Cancer patients and 768 cancer-free controls in a Chinese population 0.4 Polymorphisms in lncRNA PTENP1 and the Risk of Gastric Cancer in a Chinese Population. case-control analysis PTENP1 lncRNA Gastric carcinoma 0.33 CTATAATCCA(C > G)ATGATTCTTT chr9: 33676096 0.7175,0.2825 0.67917781600407747,0.32082218399592252 Region score:0.26; TSS score:0.29; Unmatched score:0.57; Average GERP:0.22284000000000007 GeneName:PTENP1-AS; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000281128; TranscriptID:ENST00000627688; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PTENP1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000237984; TranscriptID:ENST00000532280; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003561 29213071 NONHSAT183231.1 rs13413665 T N/A 15,997 hispanic/latino individuals EFO_0004278 N/A Associate Qt interval rs13413665-T of NONHSAT183231.1 is significantly associated with the qt interval by using GWAS analysis in 15,997 hispanic/latino individuals(p-value = 3E-6 ;OR = 3.36). 0.4 GWAS of the electrocardiographic QT interval in Hispanics/Latinos generalizes previously identified loci and identifies population-specific signals. genome-wide association analysis NONHSAT183231.1 lncRNA Sudden cardiac arrest 0.33 GCTGTGCCTG(T > C)CCCCAACTGA chr2: 181262936 0.9681,0.03195 0.96730058613659531,0.03269941386340468 Region score:0.46; TSS score:0.2; Unmatched score:0.36; Average GERP:-0.26272673267326724 GeneName:LINC01934; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000234663; TranscriptID:ENST00000435411; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000630058; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003562 25673412 NONHSAT170927.1 rs1440372 C N/A up to 56,910 european ancestry men//up to 86,570 european ancestry women; up to 36,570 european ancestry men//30,172 european ancestry women//915 filipino ancestry men//735 filipino ancestry women//2,351 african american/afro-caribbean ancestry men//6,258 african american/afro-caribbean ancestry women//2,285 south asian ancestry men//506 south asian ancestry women//195 seychellois ancestry men//266 seychellois ancestry women EFO_0007788 N/A Associate Waist-to-hip ratio adjusted for body mass index rs1440372-C of NONHSAT170927.1 is significantly associated with the waist-to-hip ratio adjusted for body mass index by using GWAS analysis in up to 56,910 european ancestry men//up to 86,570 european ancestry women; up to 36,570 european ancestry men//30,172 european ancestry women//915 filipino ancestry men//735 filipino ancestry women//2,351 african american/afro-caribbean ancestry men//6,258 african american/afro-caribbean ancestry women//2,285 south asian ancestry men//506 south asian ancestry women//195 seychellois ancestry men//266 seychellois ancestry women(p-value = 1E-10 ;OR = 0.0244). 0.4 New genetic loci link adipose and insulin biology to body fat distribution. genome-wide association analysis NONHSAT170927.1 lncRNA Bmi-adjusted waist-hip ratio 0.451 GATCTTTGCT(T > C)GCTTTTCTTC chr15: 66740813 0.1713,0.8287 0.20690781090723751,0.79309218909276248 Region score:0.37; TSS score:0.26; Unmatched score:0.16; Average GERP:0.9008386138613861 GeneName:AC013564.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000274995; TranscriptID:ENST00000612806; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000519134; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SMAD6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000137834; TranscriptID:ENST00000288840; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003562 28443625 NONHSAT170927.1 rs1440372 T N/A 95,362 european ancestry women//62,085 european ancestry men//5,829 european ancestry individuals//10,500 african american/afro-caribbean ancestry women//2,706 african american/afro-caribbean ancestry men//1,030 indian asian ancestry women//7,648 indian asian ancestry men//1,793 filipino ancestry women//2,944 hispanic/latino ancestry women//1,764 hispanic/latino ancestry men; 21,496 european ancestry women//24,385 european ancestry men//118,364 european ancestry individuals//2,326 african american/afro-caribbean ancestry women//855 african american/afro-caribbean ancestry men EFO_0007788 adjusted for smoking behaviour Associate Waist-to-hip ratio adjusted for bmi (adjusted for smoking behaviour) rs1440372-T of NONHSAT170927.1 is significantly associated with the waist-to-hip ratio adjusted for bmi (adjusted for smoking behaviour) by using GWAS analysis in 95,362 european ancestry women//62,085 european ancestry men//5,829 european ancestry individuals//10,500 african american/afro-caribbean ancestry women//2,706 african american/afro-caribbean ancestry men//1,030 indian asian ancestry women//7,648 indian asian ancestry men//1,793 filipino ancestry women//2,944 hispanic/latino ancestry women//1,764 hispanic/latino ancestry men; 21,496 european ancestry women//24,385 european ancestry men//118,364 european ancestry individuals//2,326 african american/afro-caribbean ancestry women//855 african american/afro-caribbean ancestry men(p-value = 7E-6 ;OR = 0.0177). 0.4 Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits. genome-wide association analysis NONHSAT170927.1 lncRNA Bmi-adjusted waist-hip ratio 0.451 GATCTTTGCT(T > C)GCTTTTCTTC chr15: 66740813 0.1713,0.8287 0.20690781090723751,0.79309218909276248 Region score:0.37; TSS score:0.26; Unmatched score:0.16; Average GERP:0.9008386138613861 GeneName:AC013564.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000274995; TranscriptID:ENST00000612806; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000519134; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SMAD6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000137834; TranscriptID:ENST00000288840; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003563 18311140 NONHSAT089433.2 rs6441961 A N/A 767 european ancestry cases//1,422 european ancestry controls; 1,643 european ancestry cases//3,406 european ancestry controls EFO_0001060 N/A Associate Celiac disease rs6441961-A of NONHSAT089433.2 is significantly associated with the celiac disease by using GWAS analysis in 767 european ancestry cases//1,422 european ancestry controls; 1,643 european ancestry cases//3,406 european ancestry controls(p-value = 3E-7 ;OR = 1.21). 0.4 Newly identified genetic risk variants for celiac disease related to the immune response. genome-wide association analysis NONHSAT089433.2 lncRNA Celiac disease 0.33 TGGTTATAGG(T > C)AGCCTTGATA chr3: 46310893 0.2668,0.7332 0.25812308868501529,0.74187691131498470 Region score:0.29; TSS score:0.41; Unmatched score:0.54; Average GERP:1.147891089108911 GeneName:UQCRC2P1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000236736; TranscriptID:ENST00000417777; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003564 25147783 NONHSAT067101.2 rs492602 C N/A 1,725 european ancestry cases//258 african ancestry cases//117 cases EFO_0004620 N/A Associate Vitamin b levels in ischemic stroke rs492602-C of NONHSAT067101.2 is significantly associated with the vitamin b levels in ischemic stroke by using GWAS analysis in 1,725 european ancestry cases//258 african ancestry cases//117 cases(p-value = 2E-7 ;OR = 0.143). 0.4 Genetic Associations with Plasma B12, B6, and Folate Levels in an Ischemic Stroke Population from the Vitamin Intervention for Stroke Prevention (VISP) Trial. genome-wide association analysis NONHSAT067101.2 lncRNA Vitamin b12 measurement 0.451 CGATCAATGC(A > G)ATAGGCCGCC chr19: 48703160 0.6783,0.3217 0.56164787206931702,0.43835212793068297 Region score:0.2; TSS score:0.23; Unmatched score:0.34; Average GERP:-0.02174257425742565 GeneName:FUT2; CADD-Score:5; Consquence:synonymous; GeneID:ENSG00000176920; TranscriptID:ENST00000425340; AnnoType:SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003564 18776911 NONHSAT067101.2 rs492602 A N/A 1,658 european ancestry female individuals; 1,059 european ancestry female individuals EFO_0004620 N/A Associate Vitamin b12 levels rs492602-A of NONHSAT067101.2 is significantly associated with the vitamin b12 levels by using GWAS analysis in 1,658 european ancestry female individuals; 1,059 european ancestry female individuals(p-value = 5E-17 ;OR = 0.09). 0.4 Common variants of FUT2 are associated with plasma vitamin B12 levels. genome-wide association analysis NONHSAT067101.2 lncRNA Vitamin b12 measurement 0.451 CGATCAATGC(A > G)ATAGGCCGCC chr19: 48703160 0.6783,0.3217 0.56164787206931702,0.43835212793068297 Region score:0.2; TSS score:0.23; Unmatched score:0.34; Average GERP:-0.02174257425742565 GeneName:FUT2; CADD-Score:5; Consquence:synonymous; GeneID:ENSG00000176920; TranscriptID:ENST00000425340; AnnoType:SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003565 20173735 NONHSAT188374.1 rs1127354 A N/A 988 european ancestry cases//198 african american cases//100 hispanic cases EFO_0004220 N/A Associate Chronic hepatitis c infection rs1127354-A of NONHSAT188374.1 is significantly associated with the chronic hepatitis c infection by using GWAS analysis in 988 european ancestry cases//198 african american cases//100 hispanic cases(p-value = 2E-58 ;OR = ?). 0.4 ITPA gene variants protect against anaemia in patients treated for chronic hepatitis C. genome-wide association analysis NONHSAT188374.1 lncRNA Chronic hepatitis c infection 0.33 AGATAAGTTT(C > A,G)CATGCACTTT chr20: 3213196 0.9105,0.08946,. 0.93423483690112130,0.06576516309887869,. Region score:0.38; TSS score:0.26; Unmatched score:0.51; Average GERP:3.0514167326732644 GeneName:ITPA; CADD-Score:7; Consquence:missense; GeneID:ENSG00000125877; TranscriptID:ENST00000380113; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003566 19514064 mir-499 rs3746444 G Recessive 1,324 chd cases and 1,783 non-chd controls EFO_0005207 N/A Decreasing risk Congenital heart disease rs3746444-G of mir-499 and its dysfunction is significantly associated with the decreasing risk of congenital heart disease by using case-control analysis in 1,324 CHD cases and 1,783 non-CHD controls. 0.4 Functional variant in microRNA-196a2 contributes to the susceptibility of congenital heart disease in a Chinese population. case-control analysis hsa-mir-499a miRNA Congenital heart disease 0.33 CCACGTGAAC(A > G)TCACAGCAAG chr20: 34990448 0.8165,0.1835 0.81708715596330275,0.18291284403669724 Region score:0.79; TSS score:0.85; Unmatched score:0.95; Average GERP:3.757564356435645 GeneName:MIR499A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207635; TranscriptID:ENST00000384903; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR499B; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283441; TranscriptID:ENST00000636498; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYH7B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000078814; TranscriptID:ENST00000262873; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003567 24743840 NONHSAT165681.1 rs7999699 ? N/A 9,287 european ancestry cases//9,117 european ancestry controls EFO_0005842 diet interaction Associate Colorectal cancer (diet interaction) rs7999699-? of NONHSAT165681.1 is significantly associated with the colorectal cancer (diet interaction) by using GWAS analysis in 9,287 european ancestry cases//9,117 european ancestry controls(p-value = 3E-6 ;OR = 1.32). 0.4 Genome-wide diet-gene interaction analyses for risk of colorectal cancer. genome-wide association analysis NONHSAT165681.1 lncRNA Colorectal cancer 0.33 TATTAAGACT(A > G)CAGAAAGCAA chr13: 47795595 0.4495,0.5505 0.50893539755351681,0.49106460244648318 Region score:0.28; TSS score:0.26; Unmatched score:0.04; Average GERP:-0.4358304950495049 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000271960; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SUCLA2; CADD-Score:2; Consquence:intron,NMD; GeneID:ENSG00000136143; TranscriptID:ENST00000643584; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003568 27082954 NONHSAT002563.2 rs710913 G N/A 104 european ancestry cases//1,519 european ancestry controls//34 african american cases//520 african american controls EFO_0004265 traffic-related air pollution interaction Associate Peripheral arterial disease (traffic-related air pollution interaction) rs710913-G of NONHSAT002563.2 is significantly associated with the peripheral arterial disease (traffic-related air pollution interaction) by using GWAS analysis in 104 european ancestry cases//1,519 european ancestry controls//34 african american cases//520 african american controls(p-value = 7E-6 ;OR = ?). 0.4 Genetic Variants in the Bone Morphogenic Protein Gene Family Modify the Association between Residential Exposure to Traffic and Peripheral Arterial Disease. genome-wide association analysis NONHSAT002563.2 lncRNA Peripheral arterial disease 0.33 CTGCAGCTCC(T > A,C)GGACTCCATC chr1: 39524254 0.3237,.,0.6763 0.35865029306829765,0.00003185524974515,0.64131785168195718 Region score:0.23; TSS score:0.18; Unmatched score:0.55; Average GERP:-0.9471613861386137 GeneName:BMP8A; CADD-Score:2; Consquence:intron; GeneID:ENSG00000183682; TranscriptID:ENST00000331593; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000354633; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PPIEL; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000243970; TranscriptID:ENST00000331856; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003569 22778062 SNORD115-8 rs72546343 C N/a N/a function N/A Not significant changes in the structure Function rs72546343-C of SNORD115-8 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD115-8 snoRNA Function -0.049 GTTGGGTCAA(T > C,G)GATGAGAACC chr15: 25184313 0.9922,0.007788,. 0.99178134556574923,0.00821865443425076,. Region score:0.49; TSS score:0.09; Unmatched score:0.5; Average GERP:-0.07119009900990116 GeneName:SNHG14; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000224078; TranscriptID:ENST00000414175; AnnoType:UPSTREAM; mirSVR-Score:-0.0163; mirSVR-E:-11.72 | GeneName:SNORD115-10; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000201943; TranscriptID:ENST00000365073; AnnoType:UPSTREAM; mirSVR-Score:-0.0163; mirSVR-E:-11.72 | GeneName:SNORD115-6; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000200812; TranscriptID:ENST00000363942; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0163; mirSVR-E:-11.72 | GeneName:SNORD115-7; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000278089; TranscriptID:ENST00000365306; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0163; mirSVR-E:-11.72 | GeneName:SNORD115-8; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000200726; TranscriptID:ENST00000363856; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0163; mirSVR-E:-11.72 | GeneName:SNORD115-9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000199782; TranscriptID:ENST00000362912; AnnoType:UPSTREAM; mirSVR-Score:-0.0163; mirSVR-E:-11.72 | NCRV0000003570 25673412 NONHSAT113087.2 rs943005 T N/A up to 56,910 european ancestry men//up to 86,570 european ancestry women; up to 36,570 european ancestry men//30,172 european ancestry women//915 filipino ancestry men//735 filipino ancestry women//2,351 african american/afro-caribbean ancestry men//6,258 african american/afro-caribbean ancestry women//2,285 south asian ancestry men//506 south asian ancestry women//195 seychellois ancestry men//266 seychellois ancestry women EFO_0004342 N/A Associate Waist circumference rs943005-T of NONHSAT113087.2 is significantly associated with the waist circumference by using GWAS analysis in up to 56,910 european ancestry men//up to 86,570 european ancestry women; up to 36,570 european ancestry men//30,172 european ancestry women//915 filipino ancestry men//735 filipino ancestry women//2,351 african american/afro-caribbean ancestry men//6,258 african american/afro-caribbean ancestry women//2,285 south asian ancestry men//506 south asian ancestry women//195 seychellois ancestry men//266 seychellois ancestry women(p-value = 1E-10 ;OR = 0.0371). 0.4 New genetic loci link adipose and insulin biology to body fat distribution. genome-wide association analysis NONHSAT113087.2 lncRNA Waist circumference 0.33 GACAGGGCTA(C > T)ACTAAATAAA chr6: 50898107 0.8257,0.1743 0.84124139908256880,0.15875860091743119 Region score:0.43; TSS score:0.02; Unmatched score:0.49; Average GERP:0.11490099009900978 GeneName:AL049693.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000216913; TranscriptID:ENST00000402760; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003571 27718165 MIR122 rs17669 C N/a 267 crohn隆炉s disease patients and 298 matched healthy controls EFO_0000384 N/A No significance for risk Crohn隆炉s disease rs17669-C of MIR122 and its dysfunction is not significantly associated with Crohn隆炉s disease by using case-control analysis in 267 Crohn隆炉s disease patients and 298 matched healthy controls. -0.4 Polymorphisms in MIR122, MIR196A2, and MIR124A Genes are Associated with Clinical Phenotypes in Inflammatory Bowel Diseases. case-control analysis hsa-mir-122 miRNA Crohn's disease -0.33 TAAAGTCTGG(C > T)TCTTTTGCAC chr18: 58451261 0.2975,0.7025 0.27535677879714576,0.72464322120285423 Region score:0.34; TSS score:0.28; Unmatched score:0.18; Average GERP:-0.8432356435643568 GeneName:MIR122; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000284440; TranscriptID:ENST00000385044; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR122HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000267391; TranscriptID:ENST00000590797; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3591; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207778; TranscriptID:ENST00000636727; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003572 26545240 NONHSAT039800.2 rs1950626 G N/A 154 african american cases//948 african american controls//163 hispanic cases//305 hispanic controls EFO_0004710 N/A Associate Pelvic organ prolapse (moderate/severe) rs1950626-G of NONHSAT039800.2 is significantly associated with the pelvic organ prolapse (moderate/severe) by using GWAS analysis in 154 african american cases//948 african american controls//163 hispanic cases//305 hispanic controls(p-value = 3E-7 ;OR = 2.96). 0.4 Genetic Determinants of Pelvic Organ Prolapse among African American and Hispanic Women in the Women's Health Initiative. genome-wide association analysis NONHSAT039800.2 lncRNA Pelvic organ prolapse 0.33 AAATCGTATA(A > G)GGAGGAAATG chr14: 100907636 0.08906,0.9109 0.15441035932721712,0.84558964067278287 Region score:0.42; TSS score:0.23; Unmatched score:0.32; Average GERP:-0.8253178217821784 GeneName:AL117190.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000258399; TranscriptID:ENST00000637474; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MEG8; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000225746; TranscriptID:ENST00000554323; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR370; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000199005; TranscriptID:ENST00000362135; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RTL1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000254656; TranscriptID:ENST00000649591; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003573 27328823 mir-3615 rs745666 C N/A 17,008 AD cases and 37,154 controls EFO_0000249 N/A decreasing risk Alzheimer's disease rs745666-C of hsa-mir-3615 and its dysfunction is significantly associated with the decreasing risk of Alzheimers disease by using case-control analysis in 17,008 AD cases and 37,154 controls 0.4 Genome-wide identification of microRNA-related variants associated with risk of Alzheimer's disease. case-control analysis hsa-mir-3615 miRNA Alzheimers disease 0.33 TTGGTCTGTG(G > C)TCCTCTCTCG chr17: 74748659 0.5903,0.4097 0.58464736238532110,0.41535263761467889 Region score:0.41; TSS score:0.56; Unmatched score:0.97; Average GERP:-0.13699999999999982 GeneName:AC016888.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000266036; TranscriptID:ENST00000585285; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0365; mirSVR-E:-23.78 | GeneName:MIR3615; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000284186; TranscriptID:ENST00000581999; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0365; mirSVR-E:-23.78 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000098254; AnnoType:REGULATORY; mirSVR-Score:-0.0365; mirSVR-E:-23.78 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000564172; AnnoType:REGULATORY; mirSVR-Score:-0.0365; mirSVR-E:-23.78 | GeneName:RAB37; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000172794; TranscriptID:ENST00000392614; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0365; mirSVR-E:-23.78 | GeneName:SLC9A3R1; CADD-Score:3; Consquence:5_prime_UTR; GeneID:ENSG00000109062; TranscriptID:ENST00000262613; AnnoType:5PRIME_UTR; mirSVR-Score:-0.0365; mirSVR-E:-23.78 | NCRV0000003574 28073927 NONHSAT200309.1 rs10021731 C N/A 20,373 european ancestry individuals//2,131 erasmus rucphen (founder/genetic isolate) individuals; 7,302 asian ancestry individuals EFO_0004190 N/A Associate Optic disc area rs10021731-C of NONHSAT200309.1 is significantly associated with the optic disc area by using GWAS analysis in 20,373 european ancestry individuals//2,131 erasmus rucphen (founder/genetic isolate) individuals; 7,302 asian ancestry individuals(p-value = 2E-8 ;OR = 0.025). 0.4 New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics. genome-wide association analysis NONHSAT200309.1 lncRNA Open-angle glaucoma 0.33 TAAACTAAAA(T > C)TTTAGTGCAA chr4: 114560759 0.6074,0.3926 0.59209352701325178,0.40790647298674821 Region score:0.33; TSS score:0.19; Unmatched score:0.01; Average GERP:0.09113861386138604 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003575 28892059 NONHSAT176251.1 rs5910 C N/A 20,184 european ancestry cases//397,324 european ancestry controls; 5,851 european ancestry cases//5,866 european ancestry controls EFO_0002508 N/A Associate Parkinson's disease rs5910-C of NONHSAT176251.1 is significantly associated with the parkinson's disease by using GWAS analysis in 20,184 european ancestry cases//397,324 european ancestry controls; 5,851 european ancestry cases//5,866 european ancestry controls(p-value = 4E-6 ;OR = 1.056). 0.4 A meta-analysis of genome-wide association studies identifies 17 new Parkinson's disease risk loci. genome-wide association analysis NONHSAT176251.1 lncRNA Parkinson's disease 0.33 TGAAGAAGCC(G > A)ACCTGGGGGT chr17: 44372421 0.6026,0.3974 0.61524432976554536,0.38475567023445463 Region score:0.28; TSS score:0.33; Unmatched score:0.5; Average GERP:1.0715940594059408 GeneName:ITGA2B; CADD-Score:5; Consquence:splice,synonymous; GeneID:ENSG00000005961; TranscriptID:ENST00000262407; AnnoType:SPLICE_SITE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003576 26528553 NONHSAT116095.2 rs3010562 ? N/A 127 hutterite individuals EFO_0007753 N/A Associate Gut microbiome composition (summer and winter) rs3010562-? of NONHSAT116095.2 is significantly associated with the gut microbiome composition (summer and winter) by using GWAS analysis in 127 hutterite individuals(p-value = 3E-7 ;OR = 0.6652993). 0.4 Genome-Wide Association Studies of the Human Gut Microbiota. genome-wide association analysis NONHSAT116095.2 lncRNA Seasonal gut microbiome measurement 0.33 TTTCAAACAG(C > T)TTGTGCTCAC chr6: 167351763 0.6663,0.3337 0.69345693170234454,0.30654306829765545 Region score:0.38; TSS score:0.38; Unmatched score:0.45; Average GERP:0.08261386138613858 GeneName:AL021331.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000217447; TranscriptID:ENST00000402817; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000324235; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000812995; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TTLL2; CADD-Score:2; Consquence:intron,NMD; GeneID:ENSG00000120440; TranscriptID:ENST00000515138; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003577 26634245 NONHSAT047596.2 rs11639382 A N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs11639382-A of NONHSAT047596.2 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 7E-7 ;OR = 0.047). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT047596.2 lncRNA Pulmonary function measurement 0.33 CACAGAAACA(G > A,C)CAGAAGAAAC chr15: 78731926 0.7059,0.2941,. 0.66360856269113149,0.33637550968399592,0.00001592762487257 Region score:0.3; TSS score:0.28; Unmatched score:0.47; Average GERP:0.2823069306930694 GeneName:AC022748.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000261303; TranscriptID:ENST00000564933; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CHRNB4; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000117971; TranscriptID:ENST00000558216; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003578 25436638 NONHSAT034433.2 rs1409005 T N/A 4,501 european ancestry individuals//351 african american individuals EFO_1000627 N/A Associate Serum thyroid-stimulating hormone levels rs1409005-T of NONHSAT034433.2 is significantly associated with the serum thyroid-stimulating hormone levels by using GWAS analysis in 4,501 european ancestry individuals//351 african american individuals(p-value = 5E-7 ;OR = 0.25). 0.4 Genetic variants associated with serum thyroid stimulating hormone (TSH) levels in European Americans and African Americans from the eMERGE Network. genome-wide association analysis NONHSAT034433.2 lncRNA Thyroid disease 0.33 ATCCTTAACC(C > T)TTGAACCTAA chr13: 78581477 0.8804,0.1196 0.87586805555555555,0.12413194444444444 Region score:0.32; TSS score:0.49; Unmatched score:0.47; Average GERP:2.4916306930693066 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000485826; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RNF219-AS1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000234377; TranscriptID:ENST00000607862; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003579 28448500 NONHSAT201188.1 rs13130484 T N/A 2,518 african american women//86,278 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//55,137 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men EFO_0001073 joint analysis main effects and physical activity interaction Associate Body mass index rs13130484-T of NONHSAT201188.1 is significantly associated with the body mass index by using GWAS analysis in 2,518 african american women//86,278 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//55,137 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men(p-value = 6E-12 ;OR = 0.0393). 0.4 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. genome-wide association analysis NONHSAT201188.1 lncRNA Obesity 0.599 CCAGTCATGG(C > A,T)AGAGGCAATG chr4: 45173674 0.6737,.,0.3263 0.63984454638124362,.,0.36015545361875637 Region score:0.33; TSS score:0.18; Unmatched score:0.03; Average GERP:-0.6220663366336632 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003579 23669352 NONHSAT201188.1 rs13130484 T N/A up to 13,627 european ancestry individuals; up to 16,253 european ancestry individuals EFO_0001073 N/A Associate Body mass index rs13130484-T of NONHSAT201188.1 is significantly associated with the body mass index by using GWAS analysis in up to 13,627 european ancestry individuals; up to 16,253 european ancestry individuals(p-value = 6E-9 ;OR = 0.05). 0.4 Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course. genome-wide association analysis NONHSAT201188.1 lncRNA Obesity 0.599 CCAGTCATGG(C > A,T)AGAGGCAATG chr4: 45173674 0.6737,.,0.3263 0.63984454638124362,.,0.36015545361875637 Region score:0.33; TSS score:0.18; Unmatched score:0.03; Average GERP:-0.6220663366336632 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003579 23563607 NONHSAT201188.1 rs13130484 T N/A 93,015 european ancestry overweight individuals//32,858 european ancestry class i obese individuals//9,889 european ancestry class ii obese individuals//2,896 european ancestry class iii obese individuals//up to 65,840 european ancestry controls; 65,332 european ancestry overweight individuals//22,373 european ancestry class i obese individuals//5,476 european ancestry class ii obese individuals//1,162 european ancestry class iii obese individuals//up to 39,294 european ancestry controls EFO_0001073 N/A Associate Obesity rs13130484-T of NONHSAT201188.1 is significantly associated with the obesity by using GWAS analysis in 93,015 european ancestry overweight individuals//32,858 european ancestry class i obese individuals//9,889 european ancestry class ii obese individuals//2,896 european ancestry class iii obese individuals//up to 65,840 european ancestry controls; 65,332 european ancestry overweight individuals//22,373 european ancestry class i obese individuals//5,476 european ancestry class ii obese individuals//1,162 european ancestry class iii obese individuals//up to 39,294 european ancestry controls(p-value = 3E-18 ;OR = 1.14). 0.4 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. genome-wide association analysis NONHSAT201188.1 lncRNA Obesity 0.599 CCAGTCATGG(C > A,T)AGAGGCAATG chr4: 45173674 0.6737,.,0.3263 0.63984454638124362,.,0.36015545361875637 Region score:0.33; TSS score:0.18; Unmatched score:0.03; Average GERP:-0.6220663366336632 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003579 26604143 NONHSAT201188.1 rs13130484 T N/A 34,744 european ancestry children; 11,313 european ancestry children EFO_0001073 N/A Associate Childhood body mass index rs13130484-T of NONHSAT201188.1 is significantly associated with the childhood body mass index by using GWAS analysis in 34,744 european ancestry children; 11,313 european ancestry children(p-value = 2E-23 ;OR = 0.067). 0.4 Genome-wide association analysis identifies three new susceptibility loci for childhood body mass index. genome-wide association analysis NONHSAT201188.1 lncRNA Obesity 0.599 CCAGTCATGG(C > A,T)AGAGGCAATG chr4: 45173674 0.6737,.,0.3263 0.63984454638124362,.,0.36015545361875637 Region score:0.33; TSS score:0.18; Unmatched score:0.03; Average GERP:-0.6220663366336632 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003579 28448500 NONHSAT201188.1 rs13130484 ? N/A 2,518 african american women//86,278 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//55,137 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men EFO_0001073 joint analysis main effects and physical activity interaction Associate Body mass index (joint analysis main effects and physical activity interaction) rs13130484-? of NONHSAT201188.1 is significantly associated with the body mass index (joint analysis main effects and physical activity interaction) by using GWAS analysis in 2,518 african american women//86,278 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//55,137 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men(p-value = 1E-7 ;OR = ?). 0.4 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. genome-wide association analysis NONHSAT201188.1 lncRNA Obesity 0.599 CCAGTCATGG(C > A,T)AGAGGCAATG chr4: 45173674 0.6737,.,0.3263 0.63984454638124362,.,0.36015545361875637 Region score:0.33; TSS score:0.18; Unmatched score:0.03; Average GERP:-0.6220663366336632 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003580 26634245 NONHSAT169868.1 rs116590076 C N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio rs116590076-C of NONHSAT169868.1 is significantly associated with the post bronchodilator fev1/fvc ratio by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 3E-6 ;OR = 0.285). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT169868.1 lncRNA Pulmonary function measurement 0.33 TGCATTCATA(T > C)AAATTATGGT chr14: 28069785 0.999,0.0009984 0.99966551987767584,0.00033448012232415 Region score:0.35; TSS score:0.21; Unmatched score:0.05; Average GERP:-0.5595849504950496 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003581 17903292 NONHSAT190812.1 rs9305354 ? N/A 822 individuals EFO_0004285 N/A Associate Urinary albumin excretion rs9305354-? of NONHSAT190812.1 is significantly associated with the urinary albumin excretion by using GWAS analysis in 822 individuals(p-value = 8E-6 ;OR = ?). 0.4 A genome-wide association for kidney function and endocrine-related traits in the NHLBI's Framingham Heart Study. genome-wide association analysis NONHSAT190812.1 lncRNA Albuminuria 0.33 ATCCCAGAAG(C > T)TGCTTAACAT chr21: 28102877 0.7025,0.2975 0.75102733180428134,0.24897266819571865 Region score:0.19; TSS score:0.18; Unmatched score:0.28; Average GERP:-0.8084643564356435 GeneName:LINC01697; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000232079; TranscriptID:ENST00000426534; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003582 27225129 NONHSAT208908.1 rs2179152 T N/A 405,072 european ancestry individuals EFO_0004784 N/A Associate Educational attainment (years of education) rs2179152-T of NONHSAT208908.1 is significantly associated with the educational attainment (years of education) by using GWAS analysis in 405,072 european ancestry individuals(p-value = 9E-9 ;OR = 0.013233004). 0.4 Genome-wide association study identifies 74 loci associated with educational attainment. genome-wide association analysis NONHSAT208908.1 lncRNA Self reported educational attainment 0.33 TCAGTTGTTT(T > C)ATTGTTAACT chr6: 26325660 0.2061,0.7939 0.26976618246687054,0.73023381753312945 Region score:0.25; TSS score:0.28; Unmatched score:0.31; Average GERP:-0.271688118811881 GeneName:HIST1H3PS1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000220875; TranscriptID:ENST00000404612; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003583 27603512 miR-200b rs7549819 C Recessive 523 ischemic stroke patients and 400 control subjects HP_0002140 N/A Decreasing risk Ischemic stroke rs7549819-C of miR-200b and its dysfunction is significantly associated with the decreasing risk of ischemic stroke by using case-control analysis in 523 ischemic stroke patients and 400 control subjects. 0.4 Association of the Single Nucleotide Polymorphisms in microRNAs 130b, 200b, and 495 with Ischemic Stroke Susceptibility and Post-Stroke Mortality. case-control analysis hsa-mir-200b miRNA Ischemic stroke 0.33 CCGGCCCGTC(C > T)GCCGGGTGGG chr1: 1165623 0.2025,0.7975 0.13880925076452599,0.86119074923547400 Region score:0.37; TSS score:0.63; Unmatched score:0.69; Average GERP:-1.405548712871287 GeneName:AL390719.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000272141; TranscriptID:ENST00000606993; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR200A; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207607; TranscriptID:ENST00000384875; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR200B; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207730; TranscriptID:ENST00000384997; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR429; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000198976; TranscriptID:ENST00000362106; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000344515; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003584 27424800 miR-8064 rs4687672 ? N/a Schizophrenias EFO_0000692 N/A Increasing risk Schizophrenia rs4687672-? of miR-8064 and its dysfunction is significantly associated with the increasing risk of Schizophrenia by using genome-wide association analysis in Schizophrenias. 0.4 Schizophrenia risk variants affecting microRNA function and site-specific regulation of NT5C2 by miR-206. genome-wide association analysis hsa-mir-8064 miRNA Schizophrenia 0.33 AAGGATGTCC(G > A)CTCGCTCAGT chr3: 52846527 0.753,0.247 0.74409085117227319,0.25590914882772680 Region score:0.31; TSS score:0.22; Unmatched score:0.36; Average GERP:-0.99770099009901 GeneName:AC099667.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000279144; TranscriptID:ENST00000624222; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR8064; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000275789; TranscriptID:ENST00000612863; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000304074; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000686364; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:STIMATE; CADD-Score:2; Consquence:intron; GeneID:ENSG00000213533; TranscriptID:ENST00000355083; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TMEM110-MUSTN1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000248592; TranscriptID:ENST00000504329; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003585 22829776 NONHSAT174831.1 rs9901675 A N/A 21,791 european ancestry individuals; 8,175 european ancestry individuals EFO_0004696 N/A Associate Sex hormone-binding globulin levels rs9901675-A of NONHSAT174831.1 is significantly associated with the sex hormone-binding globulin levels by using GWAS analysis in 21,791 european ancestry individuals; 8,175 european ancestry individuals(p-value = 1E-7 ;OR = 0.057). 0.4 A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation. genome-wide association analysis NONHSAT174831.1 lncRNA Sex hormone-binding globulin measurement 0.33 ACGCCCATCC(G > A)CCTACCAGGC chr17: 7581494 0.9297,0.07029 0.94675395005096839,0.05324604994903160 Region score:0.37; TSS score:0.62; Unmatched score:0.74; Average GERP:1.4306366336633656 GeneName:AC016876.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000233223; TranscriptID:ENST00000573187; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC016876.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000264772; TranscriptID:ENST00000581621; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CD68; CADD-Score:7; Consquence:missense; GeneID:ENSG00000129226; TranscriptID:ENST00000250092; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:EIF4A1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000161960; TranscriptID:ENST00000293831; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MPDU1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000129255; TranscriptID:ENST00000250124; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000090881; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SENP3-EIF4A1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000277957; TranscriptID:ENST00000614237; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORA67; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000277985; TranscriptID:ENST00000384423; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORD10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000238917; TranscriptID:ENST00000459579; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003586 28928442 NONHSAT203365.1 rs79031633 ? N/A 1,115 european ancestry cases//88,076 european ancestry controls EFO_0008416 N/A Associate Rheumatic fever rs79031633-? of NONHSAT203365.1 is significantly associated with the rheumatic fever by using GWAS analysis in 1,115 european ancestry cases//88,076 european ancestry controls(p-value = 9E-6 ;OR = 6.6284). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. genome-wide association analysis NONHSAT203365.1 lncRNA Susceptibility to rheumatic fever measurement 0.33 CATACTCCAC(A > G)TTTTAAAAGT chr5: 144899445 0.9964,0.003594 0.99829574413863404,0.00170425586136595 Region score:0.36; TSS score:0.09; Unmatched score:0; Average GERP:-0.39914257425742583 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003587 19915575 NONHSAT175269.1 rs393152 A N/A 1,713 european ancestry cases//3,978 european ancestry controls; 3,361 european ancestry cases//4,573 european ancestry controls EFO_0002508 N/A Associate Parkinson's disease rs393152-A of NONHSAT175269.1 is significantly associated with the parkinson's disease by using GWAS analysis in 1,713 european ancestry cases//3,978 european ancestry controls; 3,361 european ancestry cases//4,573 european ancestry controls(p-value = 2E-16 ;OR = 1.3). 0.4 Genome-wide association study reveals genetic risk underlying Parkinson's disease. genome-wide association analysis NONHSAT175269.1 lncRNA Parkinson's disease 0.33 AGGAGAGGAT(A > G)TGAGGAAAGA chr17: 45641777 0.7524,0.2476 0.70132517838939857,0.29867482161060142 Region score:0.45; TSS score:0.26; Unmatched score:0.43; Average GERP:-0.7131821782178223 GeneName:LINC02210; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000204650; TranscriptID:ENST00000591271; AnnoType:INTRONIC; mirSVR-Score:-0.0572; mirSVR-E:-14.85 | GeneName:LINC02210-CRHR1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000263715; TranscriptID:ENST00000634540; AnnoType:INTRONIC; mirSVR-Score:-0.0572; mirSVR-E:-14.85 | NCRV0000003588 22778062 SNORD115-3 rs12899841 A N/A N/A function N/A not significant changes in the structure function rs12899841-A of SNORD115-3 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in nan -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD115-3 snoRNA function -0.049 ATCATGCTTA(G > A,C)TAGGATTACG chr15: 25174989 0.9974,0.002596,. 0.98964704383282364,0.01033702854230377,0.00001592762487257 Region score:0.43; TSS score:0.12; Unmatched score:0.58; Average GERP:-0.058728712871287135 GeneName:SNHG14; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000224078; TranscriptID:ENST00000441592; AnnoType:INTRONIC; mirSVR-Score:-0.5504; mirSVR-E:-8.30 | GeneName:SNORD115-1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000201831; TranscriptID:ENST00000364961; AnnoType:DOWNSTREAM; mirSVR-Score:-0.5504; mirSVR-E:-8.30 | GeneName:SNORD115-2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000199712; TranscriptID:ENST00000362842; AnnoType:DOWNSTREAM; mirSVR-Score:-0.5504; mirSVR-E:-8.30 | GeneName:SNORD115-3; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000199970; TranscriptID:ENST00000363100; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.5504; mirSVR-E:-8.30 | GeneName:SNORD115-4; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000200680; TranscriptID:ENST00000363810; AnnoType:UPSTREAM; mirSVR-Score:-0.5504; mirSVR-E:-8.30 | GeneName:SNORD115-5; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000200503; TranscriptID:ENST00000363633; AnnoType:UPSTREAM; mirSVR-Score:-0.5504; mirSVR-E:-8.30 | NCRV0000003589 27863252 NONHSAT192444.1 rs4822191 A N/A 172,433 european ancestry individuals EFO_0004526 N/A Associate Mean corpuscular volume rs4822191-A of NONHSAT192444.1 is significantly associated with the mean corpuscular volume by using GWAS analysis in 172,433 european ancestry individuals(p-value = 3E-9 ;OR = 0.02104635). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT192444.1 lncRNA Mean corpuscular volume 0.33 TCAGGAGTTG(G > A)GCACCAGCCT chr22: 42745014 0.4942,0.5058 0.55395482925586136,0.44604517074413863 Region score:0.21; TSS score:0.18; Unmatched score:0.08; Average GERP:0.09069306930693062 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000673153; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003590 23028342 NONHSAT189084.1 rs11698685 G N/A up to 2,916 european ancestry type 1 diabetes cases with nephropathy//3,315 european ancestry type 1 diabetes cases without nephropathy; up to 1,493 european ancestry type 1 diabetes cases with nephropathy//3,191 european ancestry type 1 diabetes cases without nephropathy EFO_0004996 N/A Associate Type 1 diabetes nephropathy rs11698685-G of NONHSAT189084.1 is significantly associated with the type 1 diabetes nephropathy by using GWAS analysis in up to 2,916 european ancestry type 1 diabetes cases with nephropathy//3,315 european ancestry type 1 diabetes cases without nephropathy; up to 1,493 european ancestry type 1 diabetes cases with nephropathy//3,191 european ancestry type 1 diabetes cases without nephropathy(p-value = 1E-6 ;OR = 1.27). 0.4 New susceptibility loci associated with kidney disease in type 1 diabetes. genome-wide association analysis NONHSAT189084.1 lncRNA Type 1 diabetes nephropathy 0.33 AAGTGGCTTC(G > A)TACAAATCTG chr20: 60320788 0.737,0.263 0.70697948521916411,0.29302051478083588 Region score:0.2; TSS score:0.21; Unmatched score:0.28; Average GERP:-1.132327722772277 GeneName:MIR646HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000228340; TranscriptID:ENST00000432910; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003591 27863252 NONHSAT061043.2 rs5498 G N/A 171,643 european ancestry individuals EFO_0004587 N/A Associate Lymphocyte counts rs5498-G of NONHSAT061043.2 is significantly associated with the lymphocyte counts by using GWAS analysis in 171,643 european ancestry individuals(p-value = 7E-30 ;OR = 0.04115269). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT061043.2 lncRNA Lymphocyte count 0.33 GGTCACCCGC(A > G)AGGTGACCGT chr19: 10285007 0.6412,0.3588 0.64197884811416921,0.35802115188583078 Region score:0.31; TSS score:0.24; Unmatched score:0.46; Average GERP:-1.2877524752475251 GeneName:AC011511.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000266978; TranscriptID:ENST00000592893; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC011511.5; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000267607; TranscriptID:ENST00000589379; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ICAM1; CADD-Score:7; Consquence:missense; GeneID:ENSG00000090339; TranscriptID:ENST00000264832; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ICAM4; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000105371; TranscriptID:ENST00000340992; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ICAM5; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000105376; TranscriptID:ENST00000221980; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003592 22778062 SNORA54 rs10488672 T N/A N/A function N/A not significant changes in the structure function rs10488672-T of SNORA54 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in nan -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORA54 snoRNA function -0.049 CTATTGCACC(G > A,C)GAATGGAACC chr11: 2963843 0.9752,0.02476,. 0.96488755096839959,0.03506466615698267,0.00004778287461773 Region score:0.46; TSS score:0.3; Unmatched score:0.52; Average GERP:0.29208340594059407 GeneName:NAP1L4; CADD-Score:2; Consquence:intron; GeneID:ENSG00000205531; TranscriptID:ENST00000380542; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORA54; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207008; TranscriptID:ENST00000384281; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003593 23251661 NONHSAT080692.2 rs4925325 A N/A 815 hispanic children from 263 families EFO_0004611 N/A Associate Obesity-related traits rs4925325-A of NONHSAT080692.2 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 7E-6 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. genome-wide association analysis NONHSAT080692.2 lncRNA Low density lipoprotein cholesterol measurement 0.33 TGCGTGGATT(G > A)TTCGAAGTGT chr20: 61939168 0.7346,0.2654 0.77062627420998980,0.22937372579001019 Region score:0.11; TSS score:0.42; Unmatched score:0.23; Average GERP:-1.0734673267326733 GeneName:CDH4; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000179242; TranscriptID:ENST00000614565; AnnoType:3PRIME_UTR; mirSVR-Score:-0.0025; mirSVR-E:-10.03 | NCRV0000003594 24413317 miR-423 rs6505162 C N/A 16399 cases and 21779 controls from seven published studies in eight common cancers EFO_0000311 N/A increasing risk cancer rs6505162-C of hsa-mir-423 and its dysfunction is significantly associated with the increasing risk of Cancer by using meta-analysis in 16399 cases and 21779 controls from seven published studies in eight common cancers 0.4 MicroRNA sequence polymorphisms and the risk of different types of cancer. meta-analysis hsa-mir-423 miRNA Cancer 0.33 TTGCTTCCTA(A > C,T)CCCGCGCTTG chr17: 30117165 0.5022,0.4978,. 0.57055937818552497,0.42940876656472986,0.00003185524974515 Region score:0.43; TSS score:0.32; Unmatched score:0.93; Average GERP:3.269841584158416 GeneName:AC104984.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000265394; TranscriptID:ENST00000582938; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC104984.5; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000266919; TranscriptID:ENST00000586878; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3184; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284399; TranscriptID:ENST00000637796; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR423; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000283935; TranscriptID:ENST00000362201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000092957; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NSRP1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000126653; TranscriptID:ENST00000247026; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003595 24024966 NONHSAT036467.2 rs12587630 A N/A up to 3,915 european ancestry individuals EFO_0000649 N/A Associate Periodontitis (cdc/aap) rs12587630-A of NONHSAT036467.2 is significantly associated with the periodontitis (cdc/aap) by using GWAS analysis in up to 3,915 european ancestry individuals(p-value = 7E-6 ;OR = 2.69). 0.4 Genome-wide association study of chronic periodontitis in a general German population. genome-wide association analysis NONHSAT036467.2 lncRNA Periodontitis 0.33 ACCGAGCAAG(A > G,T)CTAGGTTATT chr14: 37597370 0.9349,0.0651,. 0.96454510703363914,0.03544692915392456,0.00000796381243628 Region score:0.42; TSS score:0.59; Unmatched score:0.81; Average GERP:0.8809217821782181 GeneName:FOXA1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000129514; TranscriptID:ENST00000250448; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TTC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000139865; TranscriptID:ENST00000556845; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003596 27718165 MIR124A rs531564 C N/A 267 Crohn鈥檚 disease patients and 298 matched healthy controls EFO_0000384 N/A no significance for risk Crohn's disease rs531564-C of hsa-mir-124-1 and its dysfunction is not significantly associated with Crohn's disease by using case-control analysis in 267 Crohn鈥檚 disease patients and 298 matched healthy controls -0.4 Polymorphisms in MIR122, MIR196A2, and MIR124A Genes are Associated with Clinical Phenotypes in Inflammatory Bowel Diseases. case-control analysis hsa-mir-124-1 miRNA Crohn's disease -0.33 CCCTGAGTCT(G > C)TTTGCATCTC chr8: 9903189 0.87,0.13 0.86338079765545361,0.13661920234454638 Region score:0.48; TSS score:0.58; Unmatched score:0.92; Average GERP:0.641257425742574 GeneName:LINC00599; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253230; TranscriptID:ENST00000517675; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR124-1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000284321; TranscriptID:ENST00000385275; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000847381; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003597 28165464 NONHSAT129023.2 rs2466029 G N/A 4,478 european ancestry cases and 13,213 european ancestry controls.; 1,722 european ancestry cases and 4,385 european ancestry controls. EFO_0000095 N/A Associate Chronic lymphocytic leukemia rs2466029-G of NONHSAT129023.2 is significantly associated with the chronic lymphocytic leukemia by using GWAS analysis in 4,478 european ancestry cases and 13,213 european ancestry controls.; 1,722 european ancestry cases and 4,385 european ancestry controls.(p-value = 7E-16 ;OR = 1.23). 0.4 Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia. genome-wide association analysis NONHSAT129023.2 lncRNA Chronic lymphocytic leukemia 0.33 AGCACTCTGG(C > G,T)AGGCCAAGGC chr8: 127188726 0.517,0.483,. 0.51979007390417940,0.48008250509683995,0.00012742099898063 Region score:0.23; TSS score:0.13; Unmatched score:0.18; Average GERP:0.02331683168316829 GeneName:CASC19; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000254166; TranscriptID:ENST00000521815; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000869275; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PCAT1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000253438; TranscriptID:ENST00000646670; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003598 23903073 NONHSAT212943.1 rs1561176 G N/A 1,089 korean ancestry females; 2,090 korean ancestry individuals EFO_0004365 N/A Associate Personality dimensions rs1561176-G of NONHSAT212943.1 is significantly associated with the personality dimensions by using GWAS analysis in 1,089 korean ancestry females; 2,090 korean ancestry individuals(p-value = 7E-6 ;OR = 0.06). 0.4 Genome-wide association study of the five-factor model of personality in young Korean women. genome-wide association analysis NONHSAT212943.1 lncRNA Personality trait 0.33 ACATTCTTGC(T > G)CCCCCTAGAG chr7: 155217003 0.7865,0.2135 0.84016628440366972,0.15983371559633027 Region score:0.26; TSS score:0.29; Unmatched score:0.23; Average GERP:-0.5382881188118808 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000844658; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000844659; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003599 23251661 NONHSAT173412.1 rs1867485 G N/A 815 hispanic children from 263 families EFO_0005115 N/A Associate Obesity-related traits rs1867485-G of NONHSAT173412.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 3E-6 ;OR = 0.04). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. genome-wide association analysis NONHSAT173412.1 lncRNA Metabolic rate measurement 0.33 ACCTGGATGG(G > A)AGGTCAGAGA chr16: 86647425 0.3886,0.6114 0.44229421508664627,0.55770578491335372 Region score:0.19; TSS score:0.17; Unmatched score:0.05; Average GERP:0.12499009900990085 GeneName:AC009154.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000261161; TranscriptID:ENST00000565822; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003600 28062665 NONHSAT172778.1 rs7404928 T N/A 1,381 japanese ancestry cases//1,505 japanese ancestry controls; 512 japanese ancestry cases//6,512 japanese ancestry controls EFO_1001486 N/A Associate Primary biliary cholangitis rs7404928-T of NONHSAT172778.1 is significantly associated with the primary biliary cholangitis by using GWAS analysis in 1,381 japanese ancestry cases//1,505 japanese ancestry controls; 512 japanese ancestry cases//6,512 japanese ancestry controls(p-value = 4E-9 ;OR = 1.26). 0.4 Genome-wide association studies identify PRKCB as a novel genetic susceptibility locus for primary biliary cholangitis in the Japanese population. genome-wide association analysis NONHSAT172778.1 lncRNA Primary biliary cirrhosis 0.33 GTAAAGCCCA(T > C)GGGTGTTCCC chr16: 23877519 0.737,0.263 0.78110665137614678,0.21889334862385321 Region score:0.36; TSS score:0.33; Unmatched score:0.23; Average GERP:-0.3476099009900989 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000534033; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PRKCB; CADD-Score:2; Consquence:intron; GeneID:ENSG00000166501; TranscriptID:ENST00000643927; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003601 23382691 NONHSAT084503.2 rs16982515 C N/A 2,247 european ancestry individuals EFO_0002690 N/A Associate Igg glycosylation rs16982515-C of NONHSAT084503.2 is significantly associated with the igg glycosylation by using GWAS analysis in 2,247 european ancestry individuals(p-value = 3E-6 ;OR = 0.3117). 0.4 Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. genome-wide association analysis NONHSAT084503.2 lncRNA Systemic lupus erythematosus 0.33 TTAAGGACAA(C > G)CCCTGGGCGG chr22: 26645319 0.8894,0.1106 0.90290519877675840,0.09709480122324159 Region score:0.58; TSS score:0.48; Unmatched score:0.92; Average GERP:-0.6515376237623764 GeneName:ISCA2P1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000226912; TranscriptID:ENST00000425548; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIAT; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000225783; TranscriptID:ENST00000421867; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000668874; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000668876; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003602 26584805 NONHSAT060409.2 rs2074552 T N/A 717 singaporean chinese ancestry myocardial infarction cases//644 singaporean chinese ancestry controls EFO_0000319 N/A Associate Plasma omega-6 polyunsaturated fatty acid levels (gamma-linolenic acid) rs2074552-T of NONHSAT060409.2 is significantly associated with the plasma omega-6 polyunsaturated fatty acid levels (gamma-linolenic acid) by using GWAS analysis in 717 singaporean chinese ancestry myocardial infarction cases//644 singaporean chinese ancestry controls(p-value = 2E-6 ;OR = 0.1056). 0.4 A genome-wide association study of n-3 and n-6 plasma fatty acids in a Singaporean Chinese population. genome-wide association analysis NONHSAT060409.2 lncRNA Cardiovascular disease 0.33 GTCCTCTGTG(C > T)GGGTGGGAGG chr19: 2214058 0.5383,0.4617 0.48700305810397553,0.51299694189602446 Region score:0.35; TSS score:0.12; Unmatched score:0.34; Average GERP:-2.421836633663367 GeneName:AC004490.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000267122; TranscriptID:ENST00000585593; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:DOT1L; CADD-Score:2; Consquence:intron; GeneID:ENSG00000104885; TranscriptID:ENST00000398665; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000105820; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003603 27863252 NONHSAT076891.2 rs55799208 A N/A 169,219 european ancestry individuals EFO_0007988 N/A Associate Myeloid white cell count rs55799208-A of NONHSAT076891.2 is significantly associated with the myeloid white cell count by using GWAS analysis in 169,219 european ancestry individuals(p-value = 3E-40 ;OR = 0.4780301). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT076891.2 lncRNA Myeloid white cell count 0.33 CATGCCACAC(G > A)CACACTGACC chr2: 218135259 0.9992,0.0007987 0.99875764525993883,0.00124235474006116 Region score:0.3; TSS score:0.45; Unmatched score:0.56; Average GERP:2.868386138613863 GeneName:CXCR2; CADD-Score:7; Consquence:missense; GeneID:ENSG00000180871; TranscriptID:ENST00000318507; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003604 19176441 NONHSAT204051.1 rs267759 A N/A 356 european ancestry cases//53 black cases//78 cases EFO_0000220 N/A Associate Response to treatment for acute lymphoblastic leukemia rs267759-A of NONHSAT204051.1 is significantly associated with the response to treatment for acute lymphoblastic leukemia by using GWAS analysis in 356 european ancestry cases//53 black cases//78 cases(p-value = 7E-6 ;OR = 3.23). 0.4 Genome-wide interrogation of germline genetic variation associated with treatment response in childhood acute lymphoblastic leukemia. genome-wide association analysis NONHSAT204051.1 lncRNA Acute lymphoblastic leukemia 0.33 CCAGAAATAT(A > G)TGAATCTCAA chr5: 36137518 0.1148,0.8852 0.06998598369011213,0.93001401630988786 Region score:0.3; TSS score:0.09; Unmatched score:0.14; Average GERP:-0.14211089108910893 GeneName:LMBRD2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000164187; TranscriptID:ENST00000296603; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003605 28724990 NONHSAT200176.1 rs9991501 ? N/A 27,488 european ancestry individuals//842 old order amish individuals; 42,360 european ancestry individuals//380 african american individuals//2,350 korean ancestry individuals EFO_0004980 N/A Associate Appendicular lean mass rs9991501-? of NONHSAT200176.1 is significantly associated with the appendicular lean mass by using GWAS analysis in 27,488 european ancestry individuals//842 old order amish individuals; 42,360 european ancestry individuals//380 african american individuals//2,350 korean ancestry individuals(p-value = 1E-7 ;OR = 0.19). 0.4 Large meta-analysis of genome-wide association studies identifies five loci for lean body mass. genome-wide association analysis NONHSAT200176.1 lncRNA Appendicular lean mass 0.33 ACTGATTTTT(C > T)GTTTTAAAAC chr4: 87337331 0.01158,0.9884 0.97770132517838939,0.02229867482161060 Region score:0.35; TSS score:0.29; Unmatched score:0.43; Average GERP:1.5597623762376238 GeneName:AC108516.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000255723; TranscriptID:ENST00000508163; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HSD17B11; CADD-Score:7; Consquence:missense; GeneID:ENSG00000198189; TranscriptID:ENST00000358290; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003606 28443625 NONHSAT208974.1 rs1049281 C N/A 95,362 european ancestry women//62,085 european ancestry men//5,829 european ancestry individuals//10,500 african american/afro-caribbean ancestry women//2,706 african american/afro-caribbean ancestry men//1,030 indian asian ancestry women//7,648 indian asian ancestry men//1,793 filipino ancestry women//2,944 hispanic/latino ancestry women//1,764 hispanic/latino ancestry men; 21,496 european ancestry women//24,385 european ancestry men//118,364 european ancestry individuals//2,326 african american/afro-caribbean ancestry women//855 african american/afro-caribbean ancestry men EFO_0007788 adjusted for smoking behaviour Associate Waist-to-hip ratio adjusted for bmi (adjusted for smoking behaviour) rs1049281-C of NONHSAT208974.1 is significantly associated with the waist-to-hip ratio adjusted for bmi (adjusted for smoking behaviour) by using GWAS analysis in 95,362 european ancestry women//62,085 european ancestry men//5,829 european ancestry individuals//10,500 african american/afro-caribbean ancestry women//2,706 african american/afro-caribbean ancestry men//1,030 indian asian ancestry women//7,648 indian asian ancestry men//1,793 filipino ancestry women//2,944 hispanic/latino ancestry women//1,764 hispanic/latino ancestry men; 21,496 european ancestry women//24,385 european ancestry men//118,364 european ancestry individuals//2,326 african american/afro-caribbean ancestry women//855 african american/afro-caribbean ancestry men(p-value = 1E-18 ;OR = 0.026). 0.4 Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits. genome-wide association analysis NONHSAT208974.1 lncRNA Bmi-adjusted waist-hip ratio 0.33 TCTCAACTTC(T > C)AGGAATTGAC chr6: 31268790 0.2412,0.7588 0.30233817533129459,0.69766182466870540 Region score:0.51; TSS score:0.59; Unmatched score:0.72; Average GERP:-0.9204455445544556 GeneName:HLA-B; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000234745; TranscriptID:ENST00000640615; AnnoType:DOWNSTREAM; mirSVR-Score:-0.1348; mirSVR-E:-19.76 | GeneName:HLA-C; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000204525; TranscriptID:ENST00000376228; AnnoType:3PRIME_UTR; mirSVR-Score:-0.1348; mirSVR-E:-19.76 | NCRV0000003607 27863252 NONHSAT011933.2 rs2491251 G N/A 169,545 european ancestry individuals EFO_0007997 N/A Associate Granulocyte percentage of myeloid white cells rs2491251-G of NONHSAT011933.2 is significantly associated with the granulocyte percentage of myeloid white cells by using GWAS analysis in 169,545 european ancestry individuals(p-value = 2E-11 ;OR = 0.02848554). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT011933.2 lncRNA Granulocyte percentage of myeloid white cells 0.33 TCCATCTCAA(A > G)AAAAAAAAAG chr10: 28525363 0.1643,0.8357 0.21069858562691131,0.78930141437308868 Region score:0.18; TSS score:0.05; Unmatched score:0.07; Average GERP:0.07081818181818185 GeneName:WAC-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000254635; TranscriptID:ENST00000528337; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003608 27863252 NONHSAT198706.1 rs16850073 T N/A 169,545 european ancestry individuals EFO_0007997 N/A Associate Granulocyte percentage of myeloid white cells rs16850073-T of NONHSAT198706.1 is significantly associated with the granulocyte percentage of myeloid white cells by using GWAS analysis in 169,545 european ancestry individuals(p-value = 5E-23 ;OR = 0.03661964). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT198706.1 lncRNA Granulocyte percentage of myeloid white cells 0.33 TGGTTTTAGA(C > T)GTTTGATGTC chr4: 73838282 0.7562,0.2438 0.70997387869520897,0.29002612130479102 Region score:0.41; TSS score:0.67; Unmatched score:0.76; Average GERP:1.8884217821782174 GeneName:CXCL6; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000124875; TranscriptID:ENST00000226317; AnnoType:3PRIME_UTR; mirSVR-Score:-0.9039; mirSVR-E:-14.05 | NCRV0000003609 27863252 NONHSAT206639.1 rs34978289 CT N/A 170,548 european ancestry individuals EFO_0007986 N/A Associate Immature fraction of reticulocytes rs34978289-CT of NONHSAT206639.1 is significantly associated with the immature fraction of reticulocytes by using GWAS analysis in 170,548 european ancestry individuals(p-value = 6E-9 ;OR = 0.02070095). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT206639.1 lncRNA Reticulocyte count 0.33 ATGGCTACCC(C > CT)GGCCTGGACT chr6: 2504388 0.5331,0.4669 0.48774369266055045,0.51225630733944954 N/A GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003610 23472165 NONHSAT208843.1 rs6907340 A N/A 1,514 european ancestry cases//12,660 european ancestry controls; 505 european ancestry cases//1,811 european ancestry controls EFO_0001065 N/A Associate Endometriosis rs6907340-A of NONHSAT208843.1 is significantly associated with the endometriosis by using GWAS analysis in 1,514 european ancestry cases//12,660 european ancestry controls; 505 european ancestry cases//1,811 european ancestry controls(p-value = 2E-7 ;OR = 1.2). 0.4 Genome-wide association study link novel loci to endometriosis. genome-wide association analysis NONHSAT208843.1 lncRNA Endometriosis 0.33 TTAATCATTC(C > T)ATATCACCAT chr6: 19803537 0.4746,0.5254 0.52550012742099898,0.47449987257900101 Region score:0.34; TSS score:0.53; Unmatched score:0.81; Average GERP:0.3907534653465348 GeneName:AL022068.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000228412; TranscriptID:ENST00000607810; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003611 26394269 NONHSAT196511.1 rs485499 T N/A 2,764 european ancestry cases//10,475 european ancestry controls; 3,716 european ancestry cases// 4,261 european ancestry controls EFO_1001486 N/A Associate Primary biliary cholangitis rs485499-T of NONHSAT196511.1 is significantly associated with the primary biliary cholangitis by using GWAS analysis in 2,764 european ancestry cases//10,475 european ancestry controls; 3,716 european ancestry cases// 4,261 european ancestry controls(p-value = 1E-23 ;OR = 1.4084507). 0.4 International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways. genome-wide association analysis NONHSAT196511.1 lncRNA Primary biliary cirrhosis 0.33 GGTAAACTCA(T > C)GTCCCAGTTT chr3: 160028076 0.8207,0.1793 0.71319125891946992,0.28680874108053007 Region score:0.33; TSS score:0.39; Unmatched score:0.49; Average GERP:-0.2576613861386138 GeneName:IL12A-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000244040; TranscriptID:ENST00000642756; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LINC01100; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000242107; TranscriptID:ENST00000471921; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003612 28957384 NONHSAT218138.1 rs7459609 T N/A 1,421 european ancestry cases//154 hispanic/latino cases//121 east asian ancestry cases//81,843 european ancestry controls//8,406 hispanic/latino controls//7,397 east asian ancestry controls EFO_1002021 N/A Associate Ankle injury rs7459609-T of NONHSAT218138.1 is significantly associated with the ankle injury by using GWAS analysis in 1,421 european ancestry cases//154 hispanic/latino cases//121 east asian ancestry cases//81,843 european ancestry controls//8,406 hispanic/latino controls//7,397 east asian ancestry controls(p-value = 8E-7 ;OR = 1.3844). 0.4 Two genetic loci associated with ankle injury. genome-wide association analysis NONHSAT218138.1 lncRNA Ankle injury 0.33 TGGGCCAGGG(T > A,C)GACAGCTGTC chr8: 42660788 0.1006,.,0.8994 0.08682148318042813,0.01254300458715596,0.90063551223241590 Region score:0.43; TSS score:0.64; Unmatched score:0.37; Average GERP:-1.3724099009900996 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000853985; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003613 22778062 SNORD9 rs1998332 T N/A N/A function N/A not significant changes in the structure function rs1998332-T of SNORD9 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in nan -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD9 snoRNA function -0.049 CCAAGTTAGG(G > A)TAAAACTCCC chr14: 21392201 0.2013,0.7987 0.19046253822629969,0.80953746177370030 Region score:0.6; TSS score:0.32; Unmatched score:0.65; Average GERP:2.168824752475249 GeneName:CHD8; CADD-Score:2; Consquence:intron; GeneID:ENSG00000100888; TranscriptID:ENST00000646647; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORD9; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000199436; TranscriptID:ENST00000362566; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003614 25214527 NONHSAT067889.2 rs2361797 T N/A 3,412 european ancestry individuals; 3,389 european ancestry individuals EFO_0004534 statin Associate Creatine kinase in statin users rs2361797-T of NONHSAT067889.2 is significantly associated with the creatine kinase in statin users by using GWAS analysis in 3,412 european ancestry individuals; 3,389 european ancestry individuals(p-value = 2E-10 ;OR = 0.08). 0.4 CKM and LILRB5 are associated with serum levels of creatine kinase. genome-wide association analysis NONHSAT067889.2 lncRNA Creatine kinase measurement 0.33 GTAGCTGAAC(A > G)TTTTATAGAG chr19: 54249685 0.504,0.496 0.47939761722731906,0.52060238277268093 Region score:0.36; TSS score:0.43; Unmatched score:0.57; Average GERP:-0.2569019801980199 GeneName:AC245052.6; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000249189; TranscriptID:ENST00000506567; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LILRB5; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000105609; TranscriptID:ENST00000449561; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RPS9; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000170889; TranscriptID:ENST00000448962; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003615 27577874 NONHSAT037641.2 rs12127 T N/A up to 13,031 african americans individuals//40,407 european ancestry individuals EFO_0003777 N/A Associate Qrs duration rs12127-T of NONHSAT037641.2 is significantly associated with the qrs duration by using GWAS analysis in up to 13,031 african americans individuals//40,407 european ancestry individuals(p-value = 2E-10 ;OR = 0.49). 0.4 Fine-mapping, novel loci identification, and SNP association transferability in a genome-wide association study of QRS duration in African Americans. genome-wide association analysis NONHSAT037641.2 lncRNA Heart disease 0.33 TTCTTCAGTG(T > A,C)GATTTAGGTG chr14: 71489553 0.8429,.,0.1571 0.78974738786952089,0.00000796381243628,0.21024464831804281 Region score:0.24; TSS score:0.2; Unmatched score:0.16; Average GERP:0.1032315841584158 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000501384; AnnoType:REGULATORY; mirSVR-Score:-0.9618; mirSVR-E:-19.00 | GeneName:SIPA1L1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000197555; TranscriptID:ENST00000557712; AnnoType:INTRONIC; mirSVR-Score:-0.9618; mirSVR-E:-19.00 | NCRV0000003616 22993228 NONHSAT207130.1 rs3749982 A N/A 4,683 european ancestry individuals EFO_0004994 N/A Associate Disc degeneration (lumbar) rs3749982-A of NONHSAT207130.1 is significantly associated with the disc degeneration (lumbar) by using GWAS analysis in 4,683 european ancestry individuals(p-value = 1E-7 ;OR = 0.19). 0.4 Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects. genome-wide association analysis NONHSAT207130.1 lncRNA Lumbar disc degeneration 0.33 CCTGAGGGGG(T > A,G)CCTCCGTGTT chr6: 32894830 0.8652,0.1348,. 0.86983944954128440,0.12902172528032619,0.00113882517838939 Region score:0.32; TSS score:0.36; Unmatched score:0.78; Average GERP:-1.6471781188118821 GeneName:HLA-Z; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000235301; TranscriptID:ENST00000434920; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000788003; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003617 22778062 SNORD127 rs75940101 G N/A N/A function N/A not significant changes in the structure function rs75940101-G of SNORD127 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in nan -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD127 snoRNA function -0.049 AATAGATTTT(A > G)TTACTAAATG chr14: 45110926 0.9912,0.008786 0.97945336391437308,0.02054663608562691 Region score:0.64; TSS score:0.21; Unmatched score:0.64; Average GERP:3.4442574257425727 GeneName:FKBP3; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000100442; TranscriptID:ENST00000216330; AnnoType:DOWNSTREAM; mirSVR-Score:-1.2334; mirSVR-E:-3.57 | GeneName:PRPF39; CADD-Score:2; Consquence:intron; GeneID:ENSG00000185246; TranscriptID:ENST00000355765; AnnoType:INTRONIC; mirSVR-Score:-1.2334; mirSVR-E:-3.57 | GeneName:SNORD127; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000239043; TranscriptID:ENST00000458892; AnnoType:NONCODING_CHANGE; mirSVR-Score:-1.2334; mirSVR-E:-3.57 | NCRV0000003618 20383145 NONHSAT176422.1 rs8068318 G N/A 23,812 european ancestry individuals; 16,626 european ancestry individuals EFO_0003884 N/A Associate Creatinine levels rs8068318-G of NONHSAT176422.1 is significantly associated with the creatinine levels by using GWAS analysis in 23,812 european ancestry individuals; 16,626 european ancestry individuals(p-value = 3E-10 ;OR = 0.8). 0.4 Genetic loci influencing kidney function and chronic kidney disease. genome-wide association analysis NONHSAT176422.1 lncRNA Chronic kidney disease 0.33 TGGTCTTTCC(C > T)CTACCTTGAG chr17: 61406405 0.5773,0.4227 0.46441768603465851,0.53558231396534148 Region score:0.37; TSS score:0.44; Unmatched score:0.66; Average GERP:-0.14727326732673285 GeneName:TBX2-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000267280; TranscriptID:ENST00000592009; AnnoType:INTRONIC; mirSVR-Score:-0.0334; mirSVR-E:-19.59 | GeneName:TBX2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000121068; TranscriptID:ENST00000240328; AnnoType:INTRONIC; mirSVR-Score:-0.0334; mirSVR-E:-19.59 | NCRV0000003619 20031603 NONHSAT198979.1 rs4318720 A N/A 2,325 european ancestry individuals EFO_0004278 N/A Associate Qt interval rs4318720-A of NONHSAT198979.1 is significantly associated with the qt interval by using GWAS analysis in 2,325 european ancestry individuals(p-value = 8E-7 ;OR = 0.28). 0.4 A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project. genome-wide association analysis NONHSAT198979.1 lncRNA Sudden cardiac arrest 0.33 GACTAAGACA(G > A)CTTCATAATG chr4: 117411099 0.8057,0.1943 0.87325592507645259,0.12674407492354740 Region score:0.43; TSS score:0.25; Unmatched score:0.16; Average GERP:-0.017564356435643604 GeneName:LINC01378; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000236922; TranscriptID:ENST00000626258; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RPSAP35; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000237684; TranscriptID:ENST00000413753; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003620 27702941 NONHSAT047252.2 rs62005807 C N/A 9,054 european ancestry individuals; 822 european ancestry individuals EFO_0007872 N/A Associate Caffeine metabolism (plasma 1,3,7-trimethylxanthine (caffeine) level) rs62005807-C of NONHSAT047252.2 is significantly associated with the caffeine metabolism (plasma 1,3,7-trimethylxanthine (caffeine) level) by using GWAS analysis in 9,054 european ancestry individuals; 822 european ancestry individuals(p-value = 3E-9 ;OR = 5.92). 0.4 Genome-wide association study of caffeine metabolites provides new insights to caffeine metabolism and dietary caffeine-consumption behavior. genome-wide association analysis NONHSAT047252.2 lncRNA Caffeine metabolite measurement 0.33 GGAGTGGCGC(G > C)AACAGGAAGG chr15: 74598640 0.9742,0.02576 0.94172082059123343,0.05827917940876656 Region score:0.39; TSS score:0.47; Unmatched score:0.83; Average GERP:-0.27774059405940593 GeneName:AC100835.2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000275527; TranscriptID:ENST00000617850; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ARID3B; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000179361; TranscriptID:ENST00000622429; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CLK3; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000179335; TranscriptID:ENST00000564353; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000521360; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000521361; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003621 27863252 NONHSAT197523.1 rs6782228 C N/A 170,721 european ancestry individuals EFO_0005091 N/A Associate Monocyte count rs6782228-C of NONHSAT197523.1 is significantly associated with the monocyte count by using GWAS analysis in 170,721 european ancestry individuals(p-value = 1E-103 ;OR = 0.08761663). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT197523.1 lncRNA Monocyte count 0.33 AGCCAGGCAG(G > C)ACTGGACTTG chr3: 128604581 0.6859,0.3141 0.71094546381243628,0.28905453618756371 Region score:0.25; TSS score:0.41; Unmatched score:0.29; Average GERP:-0.473041287128713 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000700244; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003622 24837172 NONHSAT108921.2 rs1063355 A N/A 603 north indian ancestry cases//622 north indian ancestry controls; 733 north indian ancestry cases//1,148 north indian ancestry controls EFO_0000729 N/A Associate Ulcerative colitis rs1063355-A of NONHSAT108921.2 is significantly associated with the ulcerative colitis by using GWAS analysis in 603 north indian ancestry cases//622 north indian ancestry controls; 733 north indian ancestry cases//1,148 north indian ancestry controls(p-value = 2E-6 ;OR = 1.43). 0.4 Genome-wide association scan in north Indians reveals three novel HLA-independent risk loci for ulcerative colitis. genome-wide association analysis NONHSAT108921.2 lncRNA Ulcerative colitis 0.33 TCAGGTAATG(T > G)TTTTCATGTG chr6: 32659937 0.4415,0.5585 0.42240061162079510,0.57759938837920489 Region score:0.48; TSS score:0.59; Unmatched score:0.72; Average GERP:-0.5954198019801982 GeneName:HLA-DQB1-AS1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000223534; TranscriptID:ENST00000419852; AnnoType:NONCODING_CHANGE; mirSVR-Score:-1.0492; mirSVR-E:-12.13 | GeneName:HLA-DQB1; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000179344; TranscriptID:ENST00000374943; AnnoType:3PRIME_UTR; mirSVR-Score:-1.0492; mirSVR-E:-12.13 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000787946; AnnoType:REGULATORY; mirSVR-Score:-1.0492; mirSVR-E:-12.13 | NCRV0000003623 29186694 NONHSAT193352.1 rs8138460 ? N/A 436,124 european ancestry individuals EFO_0008354 N/A Associate Cognitive ability rs8138460-? of NONHSAT193352.1 is significantly associated with the cognitive ability by using GWAS analysis in 436,124 european ancestry individuals(p-value = 1E-8 ;OR = 5.712). 0.4 Large-Scale Cognitive GWAS Meta-Analysis Reveals Tissue-Specific Neural Expression and Potential Nootropic Drug Targets. genome-wide association analysis NONHSAT193352.1 lncRNA Cognitive function measurement 0.33 GAATGAAAAG(A > G)TACTCGGAAC chr22: 50665264 0.7049,0.2951 0.61003599643221202,0.38996400356778797 Region score:0.34; TSS score:0.26; Unmatched score:0.08; Average GERP:-0.10866336633663361 GeneName:RF00019; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000212569; TranscriptID:ENST00000391267; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003624 28334935 NONHSAT108210.2 rs1799945 C N/A 12,375 hispanic/latino individuals EFO_0004459 N/A Associate Iron status biomarkers (ferritin levels) rs1799945-C of NONHSAT108210.2 is significantly associated with the iron status biomarkers (ferritin levels) by using GWAS analysis in 12,375 hispanic/latino individuals(p-value = 1E-9 ;OR = 0.043). 0.4 Genome-wide association study of iron traits and relation to diabetes in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL): potential genomic intersection of iron and glucose regulation? genome-wide association analysis NONHSAT108210.2 lncRNA Ferritin measurement 0.33 GTTCTATGAT(C > G)ATGAGAGTCG chr6: 26090951 0.9269,0.07308 0.89884365443425076,0.10115634556574923 Region score:0.3; TSS score:0.25; Unmatched score:0.49; Average GERP:0.6539455445544557 GeneName:HFE; CADD-Score:7; Consquence:missense; GeneID:ENSG00000010704; TranscriptID:ENST00000357618; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003625 22778062 SNORD10 rs75736809 C N/a N/a function N/A Not significant changes in the structure Function rs75736809-C of SNORD10 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD10 snoRNA Function -0.049 AGGATCAGTC(T > C)TTGTACTCTG chr17: 7576937 0.9748,0.02516 0.97672177624872579,0.02327822375127420 Region score:0.34; TSS score:0.21; Unmatched score:0.63; Average GERP:0.13425742574257443 GeneName:AC016876.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000264772; TranscriptID:ENST00000581621; AnnoType:INTRONIC; mirSVR-Score:-0.8780; mirSVR-E:-14.23 | GeneName:CD68; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000129226; TranscriptID:ENST00000250092; AnnoType:UPSTREAM; mirSVR-Score:-0.8780; mirSVR-E:-14.23 | GeneName:EIF4A1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000161960; TranscriptID:ENST00000293831; AnnoType:INTRONIC; mirSVR-Score:-0.8780; mirSVR-E:-14.23 | GeneName:SENP3; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000161956; TranscriptID:ENST00000321337; AnnoType:DOWNSTREAM; mirSVR-Score:-0.8780; mirSVR-E:-14.23 | GeneName:SENP3-EIF4A1; CADD-Score:2; Consquence:intron,NMD; GeneID:ENSG00000277957; TranscriptID:ENST00000614237; AnnoType:INTRONIC; mirSVR-Score:-0.8780; mirSVR-E:-14.23 | GeneName:SNORA48; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000209582; TranscriptID:ENST00000386847; AnnoType:DOWNSTREAM; mirSVR-Score:-0.8780; mirSVR-E:-14.23 | GeneName:SNORA67; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277985; TranscriptID:ENST00000384423; AnnoType:UPSTREAM; mirSVR-Score:-0.8780; mirSVR-E:-14.23 | GeneName:SNORD10; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000238917; TranscriptID:ENST00000459579; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.8780; mirSVR-E:-14.23 | NCRV0000003626 28135244 NONHSAT179793.1 rs7412 T N/A 140,886 european ancestry individuals; 190,318 european ancestry individuals EFO_0005763 N/A Associate Pulse pressure rs7412-T of NONHSAT179793.1 is significantly associated with the pulse pressure by using GWAS analysis in 140,886 european ancestry individuals; 190,318 european ancestry individuals(p-value = 4E-10 ;OR = 0.3826). 0.4 Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk. genome-wide association analysis NONHSAT179793.1 lncRNA Pulse pressure measurement 0.33 CCTGCAGAAG(C > T)GCCTGGCAGT chr19: 44908822 0.9249,0.07508 0.91786123853211009,0.08213876146788990 Region score:0.36; TSS score:0.39; Unmatched score:0.61; Average GERP:1.2422673267326734 GeneName:AC011481.3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000280087; TranscriptID:ENST00000623895; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:APOE; CADD-Score:7; Consquence:missense; GeneID:ENSG00000130203; TranscriptID:ENST00000252486; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003627 28232668 NONHSAT028740.2 rs705704 A N/A 2,033 han chinese ancestry cases//4,051 han chinese ancestry controls; 1,346 han chinese ancestry cases//4,542 han chinese ancestry controls EFO_0003959 N/A Associate Nonsyndromic cleft lip with cleft palate rs705704-A of NONHSAT028740.2 is significantly associated with the nonsyndromic cleft lip with cleft palate by using GWAS analysis in 2,033 han chinese ancestry cases//4,051 han chinese ancestry controls; 1,346 han chinese ancestry cases//4,542 han chinese ancestry controls(p-value = 1E-9 ;OR = 1.22). 0.4 Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity. genome-wide association analysis NONHSAT028740.2 lncRNA Cleft lip 0.33 CACCTACCTA(G > A)TAGAAGGACT chr12: 56041628 0.7939,0.2061 0.74577917940876656,0.25422082059123343 Region score:0.35; TSS score:0.3; Unmatched score:0.91; Average GERP:-0.8281374257425744 GeneName:AC034102.3; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000257449; TranscriptID:ENST00000551846; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:IKZF4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000123411; TranscriptID:ENST00000262032; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000052471; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000459101; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RPS26; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197728; TranscriptID:ENST00000356464; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003628 23251661 NONHSAT185346.1 rs1448190 A N/A 815 hispanic children from 263 families EFO_0004810 N/A Associate Obesity-related traits rs1448190-A of NONHSAT185346.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 8E-6 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. genome-wide association analysis NONHSAT185346.1 lncRNA Interleukin-6 measurement 0.33 GAGGCCCCAG(A > C)CAGGGATCTG chr2: 111618386 0.4493,0.5507 0.34741335372069317,0.65258664627930682 Region score:0.43; TSS score:0.51; Unmatched score:0.57; Average GERP:0.3421594059405942 GeneName:AC017002.5; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000280878; TranscriptID:ENST00000630717; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC017002.6; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000285016; TranscriptID:ENST00000644013; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ANAPC1; CADD-Score:2; Consquence:intron,NMD; GeneID:ENSG00000153107; TranscriptID:ENST00000643447; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000121823; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000616784; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003629 26634245 NONHSAT023893.2 rs646760 A N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio rs646760-A of NONHSAT023893.2 is significantly associated with the post bronchodilator fev1/fvc ratio by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 2E-7 ;OR = 0.016). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT023893.2 lncRNA Pulmonary function measurement 0.33 AAAATGGACT(A > T)TGCATTGCTC chr11: 102832547 0.9251,0.07488 0.91059824159021406,0.08940175840978593 Region score:0.39; TSS score:0.57; Unmatched score:0.8; Average GERP:0.5156079207920792 GeneName:MMP3; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000149968; TranscriptID:ENST00000299855; AnnoType:DOWNSTREAM; mirSVR-Score:-0.2650; mirSVR-E:-14.61 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000440649; AnnoType:REGULATORY; mirSVR-Score:-0.2650; mirSVR-E:-14.61 | GeneName:WTAPP1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000255282; TranscriptID:ENST00000525739; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.2650; mirSVR-E:-14.61 | NCRV0000003630 24528284 NONHSAT087030.2 rs1065852 ? N/A 300 european ancestry escitalpram treated individuals//130 european ancestry citalopram treated individuals EFO_0003761 serotonin reuptake inhibitors Associate Response to serotonin reuptake inhibitors in major depressive disorder (plasma drug and metabolite levels) rs1065852-? of NONHSAT087030.2 is significantly associated with the response to serotonin reuptake inhibitors in major depressive disorder (plasma drug and metabolite levels) by using GWAS analysis in 300 european ancestry escitalpram treated individuals//130 european ancestry citalopram treated individuals(p-value = 2E-16 ;OR = ?). 0.4 Citalopram and escitalopram plasma drug and metabolite concentrations: genome-wide associations. genome-wide association analysis NONHSAT087030.2 lncRNA Unipolar depression 0.33 GGGCCTGGTG(G > A)GTAGCGTGCA chr22: 42130692 0.762,0.238 0.79103752548419979,0.20896247451580020 Region score:0.28; TSS score:0.38; Unmatched score:0.61; Average GERP:1.3482247524752469 GeneName:AC254562.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000227370; TranscriptID:ENST00000417586; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CYP2D6; CADD-Score:7; Consquence:missense; GeneID:ENSG00000100197; TranscriptID:ENST00000360608; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NDUFA6-DT; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000237037; TranscriptID:ENST00000439129; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003631 28627442 PCAT1 rs710886 G N/a 578 cases and 1006 controls for discovery; 1028 bladder cancer cases and 1381 normal controls for validation EFO_0000292 N/A Decreasing risk Bladder cancer rs710886-G of PCAT1 and its dysfunction is significantly associated with the decreasing risk of bladder cancer by using case-control analysis in 578 cases and 1006 controls for discovery; 1028 bladder cancer cases and 1381 normal controls for validation. 0.4 The association of rs710886 in lncRNA PCAT1 with bladder cancer risk in a Chinese population. case-control analysis PCAT1 lncRNA Bladder cancer 0.33 TTGACTCCTG(C > T)GCTATAGTTT chr8: 127014615 0.6088,0.3912 0.61279147553516819,0.38720852446483180 Region score:0.31; TSS score:0.24; Unmatched score:0.08; Average GERP:-0.38626732673267333 GeneName:PCAT1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000253438; TranscriptID:ENST00000561978; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003632 28177126 SNORD118 rs562912181 ? Dominant 8 unrelated families with LCC Orphanet_313838 N/A increasing risk Coats plus syndrome rs562912181-? of SNORD118 and its dysfunction is significantly associated with the increasing risk of Coats plus syndrome by using Pedigree analysis in 8 unrelated families with LCC 0.4 Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts. Pedigree analysis SNORD118 snoRNA Coats plus syndrome 0.33 GTTGCAAGTC(C > G,T)TGATTACGCA chr17: 8173486 0.9998,.,0.0001997 0 - GeneName:AC129492.4; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000266824; TranscriptID:ENST00000581248; AnnoType:UPSTREAM; mirSVR-Score:-0.4206; mirSVR-E:-13.58 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000282324; AnnoType:REGULATORY; mirSVR-Score:-0.4206; mirSVR-E:-13.58 | GeneName:SNORD118; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000200463; TranscriptID:ENST00000363593; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.4206; mirSVR-E:-13.58 | GeneName:TMEM107; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000179029; TranscriptID:ENST00000316425; AnnoType:DOWNSTREAM; mirSVR-Score:-0.4206; mirSVR-E:-13.58 | NCRV0000003633 23382691 NONHSAT189389.1 rs2077147 C N/A 2,247 european ancestry individuals EFO_0002690 N/A Associate Igg glycosylation rs2077147-C of NONHSAT189389.1 is significantly associated with the igg glycosylation by using GWAS analysis in 2,247 european ancestry individuals(p-value = 3E-6 ;OR = 0.1568). 0.4 Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. genome-wide association analysis NONHSAT189389.1 lncRNA Systemic lupus erythematosus 0.33 AATGTTCCCA(T > C)CTTTCCCAGC chr20: 17844499 0.605,0.395 0.58434473751274209,0.41565526248725790 Region score:0.29; TSS score:0.45; Unmatched score:0.42; Average GERP:-0.05678712871287134 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000135176; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003634 28476931 NONHSAT067101.2 rs281377 C N/A 509 pima indian ancestry individuals EFO_0001073 N/A Associate Resting metabolic rate rs281377-C of NONHSAT067101.2 is significantly associated with the resting metabolic rate by using GWAS analysis in 509 pima indian ancestry individuals(p-value = 7E-6 ;OR = 56.516937). 0.4 A Genome-Wide Association Study Using a Custom Genotyping Array Identifies Variants in GPR158 Associated With Reduced Energy Expenditure in American Indians. genome-wide association analysis NONHSAT067101.2 lncRNA Obesity 0.33 ACCACCTGAA(C > T)GACTGGATGG chr19: 48703346 0.504,0.496 0.57179376911314984,0.42820623088685015 Region score:0.22; TSS score:0.29; Unmatched score:0.35; Average GERP:0.683168316831683 GeneName:FUT2; CADD-Score:5; Consquence:synonymous; GeneID:ENSG00000176920; TranscriptID:ENST00000425340; AnnoType:SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003635 27863252 NONHSAT219315.1 rs944802 T N/A 172,435 european ancestry individuals EFO_0004308 N/A Associate White blood cell count rs944802-T of NONHSAT219315.1 is significantly associated with the white blood cell count by using GWAS analysis in 172,435 european ancestry individuals(p-value = 2E-11 ;OR = 0.03820392). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT219315.1 lncRNA Leukocyte count 0.33 AACACGACCA(C > G,T)GACAGGCCTC chr9: 22155710 0.7975,.,0.2025 0.84201388888888888,.,0.15798611111111111 Region score:0.32; TSS score:0.1; Unmatched score:0.03; Average GERP:0 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003636 27424800 mir-1281 rs8136923 ? N/a Schizophrenias EFO_0000692 N/A Increasing risk Schizophrenia rs8136923-? of mir-1281 and its dysfunction is significantly associated with the increasing risk of Schizophrenia by using genome-wide association analysis in Schizophrenias. 0.4 Schizophrenia risk variants affecting microRNA function and site-specific regulation of NT5C2 by miR-206. genome-wide association analysis hsa-mir-1281 miRNA Schizophrenia 0.33 GCGCCTCGGG(G > A)CAGTGGAACC chr22: 41074518 0.7492,0.2508 0.75750987512742099,0.24249012487257900 Region score:0.24; TSS score:0.19; Unmatched score:0.41; Average GERP:0.17146534653465376 GeneName:AL080243.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000213857; TranscriptID:ENST00000423293; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003637 21441570 NONHSAT208233.1 rs7772697 T N/A 973 european ancestry cases//1,856 european ancestry controls EFO_0003770 N/A Associate Diabetic retinopathy rs7772697-T of NONHSAT208233.1 is significantly associated with the diabetic retinopathy by using GWAS analysis in 973 european ancestry cases//1,856 european ancestry controls(p-value = 3E-6 ;OR = 1.35). 0.4 Genome-wide meta-analysis for severe diabetic retinopathy. genome-wide association analysis NONHSAT208233.1 lncRNA Diabetic retinopathy 0.33 ACCATAAAAT(T > C)TCGACTCACA chr6: 149113975 0.6132,0.3868 0.58634365443425076,0.41365634556574923 Region score:0.37; TSS score:0.16; Unmatched score:0.21; Average GERP:-0.17807821782178215 GeneName:AL603766.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000219487; TranscriptID:ENST00000407763; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003638 27863252 NONHSAT188791.1 rs4142441 G N/A 170,494 european ancestry individuals EFO_0007989 N/A Associate Monocyte percentage of white cells rs4142441-G of NONHSAT188791.1 is significantly associated with the monocyte percentage of white cells by using GWAS analysis in 170,494 european ancestry individuals(p-value = 3E-19 ;OR = 0.04533454). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT188791.1 lncRNA Monocypte percentage of leukocytes 0.33 CGTGCGCCTT(A > G)CGTAATTTCC chr20: 44210980 0.8377,0.1623 0.85020865188583078,0.14979134811416921 Region score:0.55; TSS score:0.41; Unmatched score:0.94; Average GERP:0.8392910891089101 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000137486; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:OSER1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000132823; TranscriptID:ENST00000372970; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:OSER1-DT; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000223891; TranscriptID:ENST00000437730; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003639 25524916 NONHSAT188123.1 rs11683087 ? N/A up to 4,176 mexican american individuals EFO_0001360 N/A Associate Glucose homeostasis traits rs11683087-? of NONHSAT188123.1 is significantly associated with the glucose homeostasis traits by using GWAS analysis in up to 4,176 mexican american individuals(p-value = 7E-7 ;OR = 20.54). 0.4 Genetic Variants Associated With Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium. genome-wide association analysis NONHSAT188123.1 lncRNA Type ii diabetes mellitus 0.33 TCAGGGAAAT(G > A)TAAGGGGTTA chr2: 226721890 0.4447,0.5553 0.39647043832823649,0.60352956167176350 Region score:0.41; TSS score:0.5; Unmatched score:0.4; Average GERP:1.5122089108910892 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000638757; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003640 20585627 NONHSAT218990.1 rs13263959 ? N/A 9,126 european ancestry individuals EFO_0003924 N/A Associate Hair color rs13263959-? of NONHSAT218990.1 is significantly associated with the hair color by using GWAS analysis in 9,126 european ancestry individuals(p-value = 8E-7 ;OR = ?). 0.4 Web-based, participant-driven studies yield novel genetic associations for common traits. genome-wide association analysis NONHSAT218990.1 lncRNA Hair color 0.33 GATAATAACA(T > C)AGATTAAGGG chr8: 141622215 0.2881,0.7119 0.22723942405708460,0.77276057594291539 Region score:0.39; TSS score:0.37; Unmatched score:0.18; Average GERP:0.49905346534653516 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003641 16251535 miR-187 rs368471398 C Dominant 75 patients with CLL and 160 control subjects EFO_0000095 N/A increasing risk chronic lymphocytic leukemia rs368471398-C of hsa-mir-187 and its dysfunction is significantly associated with the increasing risk of Chronic lymphocytic leukemia by using case-control analysis in 75 patients with CLL and 160 control subjects 0.4 A MicroRNA signature associated with prognosis and progression in chronic lymphocytic leukemia. case-control analysis hsa-mir-187 miRNA Chronic lymphocytic leukemia 0.33 TGTTGTAGCC(C > T)GAGGTCTCAC chr18: 35904893 0 0.99992832568807339,0.00007167431192660 - GeneName:MIR187; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207797; TranscriptID:ENST00000385062; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003642 26390057 NONHSAT220168.1 rs490234 T N/A 31,516 east asian ancestry individuals// 35,352 european ancestry individuals//33,126 south asian ancestry individuals; 87,205 individuals//48,268 east asian ancestry individuals//68,456 european ancestry individuals and 16,328 south asian ancestry individuals EFO_0006340 N/A Associate Mean arterial pressure rs490234-T of NONHSAT220168.1 is significantly associated with the mean arterial pressure by using GWAS analysis in 31,516 east asian ancestry individuals// 35,352 european ancestry individuals//33,126 south asian ancestry individuals; 87,205 individuals//48,268 east asian ancestry individuals//68,456 european ancestry individuals and 16,328 south asian ancestry individuals(p-value = 9E-7 ;OR = 0.17062975). 0.4 Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation. genome-wide association analysis NONHSAT220168.1 lncRNA Mean arterial pressure 0.33 ATGCATTATA(T > C)CACAAATATA chr9: 125541455 0.492,0.508 0.50692851681957186,0.49307148318042813 Region score:0.2; TSS score:0.18; Unmatched score:0.16; Average GERP:0.8986513861386136 GeneName:MAPKAP1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000119487; TranscriptID:ENST00000265960; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003643 17554300 NONHSAT207283.1 rs6458307 ? N/A 1,868 european ancestry cases//2,938 european ancestry controls EFO_0000289 N/A Associate Bipolar disorder rs6458307-? of NONHSAT207283.1 is significantly associated with the bipolar disorder by using GWAS analysis in 1,868 european ancestry cases//2,938 european ancestry controls(p-value = 4E-6 ;OR = 1.19). 0.4 Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. genome-wide association analysis NONHSAT207283.1 lncRNA Bipolar disorder 0.33 TGCTCATTCA(C > T)TGAGTTCAAA chr6: 42763377 0.6348,0.3652 0.63348146024464831,0.36651853975535168 Region score:0.27; TSS score:0.09; Unmatched score:0.04; Average GERP:0.29800326732673266 GeneName:BICRAL; CADD-Score:2; Consquence:intron; GeneID:ENSG00000112624; TranscriptID:ENST00000614467; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003644 25673413 NONHSAT018228.2 rs1557765 C N/A up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals EFO_0001073 N/A Associate Body mass index rs1557765-C of NONHSAT018228.2 is significantly associated with the body mass index by using GWAS analysis in up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals(p-value = 2E-6 ;OR = 0.015). 0.4 Genetic studies of body mass index yield new insights for obesity biology. genome-wide association analysis NONHSAT018228.2 lncRNA Obesity 0.33 TCCCATAGAT(T > C)AGTGCCCTAG chr11: 17382092 0.2768,0.7232 0.29310811671763506,0.70689188328236493 Region score:0.26; TSS score:0.36; Unmatched score:0.39; Average GERP:-0.42007188118811867 GeneName:AC124798.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000260196; TranscriptID:ENST00000568280; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:KCNJ11; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000187486; TranscriptID:ENST00000339994; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NCR3LG1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000188211; TranscriptID:ENST00000338965; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003645 22778062 SNORA37 rs73483657 C N/A N/A function N/A significant changes in the structure function rs73483657-C of SNORA37 and its dysfunction having significant changes in the structure associated with function by using SNPfold prediction in nan 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORA37 snoRNA function 0.049 TCAGAAGAAA(T > C)TGTCCCATTG chr18: 54222286 0.9986,0.001398 0.99757103720693170,0.00242896279306829 Region score:0.48; TSS score:0.16; Unmatched score:0.53; Average GERP:-0.4050233663366335 GeneName:MBD2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000134046; TranscriptID:ENST00000256429; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000103437; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORA37; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207233; TranscriptID:ENST00000384504; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003646 23870195 NONHSAT078026.2 rs749924 T N/A 5,823 african american individuals; 9,992 european ancestry individuals EFO_0004723 N/A Associate Coronary artery calcification rs749924-T of NONHSAT078026.2 is significantly associated with the coronary artery calcification by using GWAS analysis in 5,823 african american individuals; 9,992 european ancestry individuals(p-value = 1E-7 ;OR = 0.19). 0.4 Genetics of coronary artery calcification among African Americans, a meta-analysis. genome-wide association analysis NONHSAT078026.2 lncRNA Coronary artery calcification 0.33 GACTTTCAGA(C > T)GTCAATGGCC chr2: 242084344 N/A 0.72951707441386340,0.27048292558613659 Region score:0.54; TSS score:0.25; Unmatched score:0.6; Average GERP:-0.5767584158415842 GeneName:LINC01238; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000261186; TranscriptID:ENST00000567549; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LINC01880; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000232002; TranscriptID:ENST00000446593; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LINC01881; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000220804; TranscriptID:ENST00000456398; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003647 20383146 NONHSAT079080.2 rs911119 ? N/A up to 67,093 european ancestry individuals; up to 22,982 european ancestry individuals EFO_0003884 N/A Associate Chronic kidney disease rs911119-? of NONHSAT079080.2 is significantly associated with the chronic kidney disease by using GWAS analysis in up to 67,093 european ancestry individuals; up to 22,982 european ancestry individuals(p-value = 2E-138 ;OR = ?). 0.4 New loci associated with kidney function and chronic kidney disease. genome-wide association analysis NONHSAT079080.2 lncRNA Chronic kidney disease 0.33 TGGCACCAAC(C > G,T)TGCTTCCCTG chr20: 23632100 0.265,.,0.735 0.20041730377166156,0.04509110601427115,0.75449159021406727 Region score:0.22; TSS score:0.15; Unmatched score:0.31; Average GERP:-0.605742376237624 GeneName:AL121894.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000270001; TranscriptID:ENST00000602977; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CST3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000101439; TranscriptID:ENST00000398411; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000647994; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003648 23247143 NONHSAT153427.1 rs12725198 A N/A 9,491 european ancestry individuals//up to 2,053 african american individuals EFO_0003914 N/A Associate Cardiac troponin-t levels rs12725198-A of NONHSAT153427.1 is significantly associated with the cardiac troponin-t levels by using GWAS analysis in 9,491 european ancestry individuals//up to 2,053 african american individuals(p-value = 3E-6 ;OR = 1.85). 0.4 Association of genome-wide variation with highly sensitive cardiac troponin-T levels in European Americans and Blacks: a meta-analysis from atherosclerosis risk in communities and cardiovascular health studies. genome-wide association analysis NONHSAT153427.1 lncRNA Atherosclerosis 0.33 TTGAGGGTGC(G > A)GAGATAGATC chr1: 15753676 0.8229,0.1771 0.79399209989806320,0.20600790010193679 Region score:0.5; TSS score:0.47; Unmatched score:0.44; Average GERP:-0.7828029702970295 GeneName:FBLIM1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000162458; TranscriptID:ENST00000375771; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SLC25A34-AS1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000224459; TranscriptID:ENST00000418525; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003649 19214202 ANRIL rs1333042 ? Dominant 2201 CHD cases, and 1472 controls EFO_0001645 N/A increasing risk coronary artery disease rs1333042-? of ANRIL and its dysfunction is significantly associated with the increasing risk of Coronary heart disease by using case-control analysis in 2201 CHD cases, and 1472 controls 0.4 Identification of a shared genetic susceptibility locus for coronary heart disease and periodontitis. case-control analysis ANRIL lncRNA Coronary heart disease 0.33 AAACACTAAC(A > G)GGCACATTGG chr9: 22103814 0.3213,0.6787 0.35466042303771661,0.64533957696228338 Region score:0.43; TSS score:0.42; Unmatched score:0.32; Average GERP:0.1813445544554458 GeneName:CDKN2B-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000240498; TranscriptID:ENST00000428597; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000877597; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003650 24681820 miR-499 rs3746444 G N/A 355 cases and 362 controls in discovery set, meanwhile 647 cases and 660 controls in validation set, as well as RCC survival in 311 patients EFO_0000681 N/A no significance for risk renal cell carcinoma rs3746444-G of hsa-mir-499a and its dysfunction is not significantly associated with Renal cell carcinoma by using case-control analysis in 355 cases and 362 controls in discovery set, meanwhile 647 cases and 660 controls in validation set, as well as RCC survival in 311 patients -0.4 Genetic variations in microRNAs and the risk and survival of renal cell cancer. case-control analysis hsa-mir-499a miRNA Renal cell carcinoma 0 CCACGTGAAC(A > G)TCACAGCAAG chr20: 34990448 0.8165,0.1835 0.81708715596330275,0.18291284403669724 Region score:0.79; TSS score:0.85; Unmatched score:0.95; Average GERP:3.757564356435645 GeneName:MIR499A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207635; TranscriptID:ENST00000384903; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR499B; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283441; TranscriptID:ENST00000636498; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYH7B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000078814; TranscriptID:ENST00000262873; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003650 27509977 MIR499a rs3746444 G Dominant 65 renal cell carcinoma (rcc) and 150 controls EFO_0000681 N/A Increasing risk Renal cell carcinoma rs3746444-G of MIR499a and its dysfunction is significantly associated with the increasing risk of renal cell carcinoma by using case-control analysis in 65 renal cell carcinoma (RCC) and 150 controls. 0.4 Combined Genotype Analyses of Precursor miRNA196a2 and 499a Variants with Hepatic and Renal Cancer Susceptibility a Preliminary Study. case-control analysis hsa-mir-499a miRNA Renal cell cancer 0 CCACGTGAAC(A > G)TCACAGCAAG chr20: 34990448 0.8165,0.1835 0.81708715596330275,0.18291284403669724 Region score:0.79; TSS score:0.85; Unmatched score:0.95; Average GERP:3.757564356435645 GeneName:MIR499A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207635; TranscriptID:ENST00000384903; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR499B; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283441; TranscriptID:ENST00000636498; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYH7B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000078814; TranscriptID:ENST00000262873; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003651 27539887 NONHSAT023550.2 rs1126809 A N/A 12.945 european ancestry cases//274,252 european ancestry controls; 4,242 european ancestry cases//12,802 european ancestry controls EFO_0004193 N/A Associate Basal cell carcinoma rs1126809-A of NONHSAT023550.2 is significantly associated with the basal cell carcinoma by using GWAS analysis in 12.945 european ancestry cases//274,252 european ancestry controls; 4,242 european ancestry cases//12,802 european ancestry controls(p-value = 3E-19 ;OR = 1.12). 0.4 Genome-wide association study identifies 14 novel risk alleles associated with basal cell carcinoma. genome-wide association analysis NONHSAT023550.2 lncRNA Basal cell cancer 0.33 CAGTGGCTCC(G > A)AAGGCACCGT chr11: 89284793 0.9187,0.08127 0.82370508409785932,0.17629491590214067 Region score:0.27; TSS score:0.31; Unmatched score:0.54; Average GERP:2.4450792079207937 GeneName:TYR; CADD-Score:7; Consquence:missense; GeneID:ENSG00000077498; TranscriptID:ENST00000263321; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003652 28429243 NONHSAT024999.2 rs7105310 G N/A 707 european ancestry postmenopausal cases//52 african ancestry postmenopausal cases//15 asian ancestry postmenopausal cases EFO_1000649 N/A Associate Estrone/androstenedione ratio in resected early stage-receptor positive breast cancer rs7105310-G of NONHSAT024999.2 is significantly associated with the estrone/androstenedione ratio in resected early stage-receptor positive breast cancer by using GWAS analysis in 707 european ancestry postmenopausal cases//52 african ancestry postmenopausal cases//15 asian ancestry postmenopausal cases(p-value = 7E-6 ;OR = 0.3841). 0.4 SLCO1B1 polymorphisms and plasma estrone conjugates in postmenopausal women with ER+ breast cancer: genome-wide association studies of the estrone pathway. genome-wide association analysis NONHSAT024999.2 lncRNA Estrogen-receptor positive breast cancer 0.33 GTTCACCTTT(C > G)TGGGCCTTGG chr11: 126175935 0.8474,0.1526 0.86738659531090723,0.13261340468909276 Region score:0.24; TSS score:0.41; Unmatched score:0.61; Average GERP:-0.6200931683168316 GeneName:AP001893.2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000254771; TranscriptID:ENST00000526949; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AP001893.3; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000254833; TranscriptID:ENST00000532357; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000445830; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003653 27082954 NONHSAT221158.1 rs10979314 ? N/A 104 european ancestry cases//1,519 european ancestry controls//34 african american cases//520 african american controls EFO_0004265 traffic-related air pollution interaction Associate Peripheral arterial disease (traffic-related air pollution interaction) rs10979314-? of NONHSAT221158.1 is significantly associated with the peripheral arterial disease (traffic-related air pollution interaction) by using GWAS analysis in 104 european ancestry cases//1,519 european ancestry controls//34 african american cases//520 african american controls(p-value = 1E-8 ;OR = 347.3). 0.4 Genetic Variants in the Bone Morphogenic Protein Gene Family Modify the Association between Residential Exposure to Traffic and Peripheral Arterial Disease. genome-wide association analysis NONHSAT221158.1 lncRNA Peripheral arterial disease 0.33 ACAACACATG(G > A)CACTCTCTCT chr9: 108310149 0.867,0.133 0.92000350407747196,0.07999649592252803 Region score:0.23; TSS score:0.14; Unmatched score:0.05; Average GERP:-0.12141732673267325 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003654 28604730 NONHSAT184768.1 rs1039766 T N/A 29,266 european ancestry cases//56,450 european ancestry controls EFO_0001071 N/A Associate Lung cancer rs1039766-T of NONHSAT184768.1 is significantly associated with the lung cancer by using GWAS analysis in 29,266 european ancestry cases//56,450 european ancestry controls(p-value = 2E-6 ;OR = 1.0803672). 0.4 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. genome-wide association analysis NONHSAT184768.1 lncRNA Lung cancer 0.33 AATCCCGCGG(C > T)ATCTCAGAGG chr2: 65293011 0.8139,0.1861 0.85896088175331294,0.14103911824668705 Region score:0.39; TSS score:0.46; Unmatched score:0.38; Average GERP:-0.9581633663366335 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000608242; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003655 27863252 NONHSAT153166.1 rs4626924 T N/A 169,545 european ancestry individuals EFO_0007997 N/A Associate Granulocyte percentage of myeloid white cells rs4626924-T of NONHSAT153166.1 is significantly associated with the granulocyte percentage of myeloid white cells by using GWAS analysis in 169,545 european ancestry individuals(p-value = 2E-17 ;OR = 0.03093424). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT153166.1 lncRNA Granulocyte percentage of myeloid white cells 0.33 AAAGCAGTTA(C > G,T)AAATCCTGAC chr1: 234773551 0.3474,.,0.6526 0.43785837155963302,0.00524018858307849,0.55690143985728848 Region score:0.44; TSS score:0.53; Unmatched score:0.23; Average GERP:0.20016930693069276 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003656 25614447 hsa-mir-5579 rs11237828 C N/A 576 patients with lung cancer in a southern Chinese population, and the significant results were validated in two additional cohorts of 346 and 368 patients, respectively EFO_0001071 N/A no significance for risk lung carcinoma rs11237828-C of hsa-mir-5579 and its dysfunction is not significantly associated with Lung carcinoma by using case-control analysis in 576 patients with lung cancer in a southern Chinese population, and the significant results were validated in two additional cohorts of 346 and 368 patients, respectively -0.4 Sequence Variation in Mature MicroRNA-499 Confers Unfavorable Prognosis of Lung Cancer Patients Treated with Platinum-Based Chemotherapy. case-control analysis hsa-mir-5579 miRNA Lung carcinoma -0.33 TTTGATCTGG(T > C)ACTCCTTAAG chr11: 79422176 0.7306,0.2694 0.76982989296636085,0.23017010703363914 Region score:0.28; TSS score:0.23; Unmatched score:0.36; Average GERP:-1.0310787128712877 GeneName:MIR5579; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000266570; TranscriptID:ENST00000580400; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000436850; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TENM4; CADD-Score:2; Consquence:intron; GeneID:ENSG00000149256; TranscriptID:ENST00000278550; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003657 23648065 NONHSAT214390.1 rs6961860 G N/A 371 japanese ancestry cases//825 japanese ancestry controls DOID_1227 all antimetabolite drugs Associate Adverse response to chemotherapy (neutropenia/leucopenia) rs6961860-G of NONHSAT214390.1 is significantly associated with the adverse response to chemotherapy (neutropenia/leucopenia) by using GWAS analysis in 371 japanese ancestry cases//825 japanese ancestry controls(p-value = 5E-6 ;OR = 1.283). 0.4 Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan. genome-wide association analysis NONHSAT214390.1 lncRNA Neutropenia 0.33 AATTCATAGT(C > T)AAACACAATC chr7: 17045697 0.5621,0.4379 0.59187850407747196,0.40812149592252803 Region score:0.29; TSS score:0.32; Unmatched score:0.08; Average GERP:-0.3893257425742574 GeneName:AC073332.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000237773; TranscriptID:ENST00000643090; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AHR; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000106546; TranscriptID:ENST00000645559; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000208875; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003658 19060910 NONHSAT172154.1 rs2624265 G N/A 4,763 northern finnish founder individuals EFO_0004530 N/A Associate Metabolic traits rs2624265-G of NONHSAT172154.1 is significantly associated with the metabolic traits by using GWAS analysis in 4,763 northern finnish founder individuals(p-value = 4E-7 ;OR = 0.07). 0.4 Genome-wide association analysis of metabolic traits in a birth cohort from a founder population. genome-wide association analysis NONHSAT172154.1 lncRNA Triglyceride measurement 0.33 AACCCCATTA(T > C)AGAGATAAGA chr15: 38856448 0.78,0.22 0.72465118501529051,0.27534881498470948 Region score:0.37; TSS score:0.35; Unmatched score:0.03; Average GERP:-0.17896782178217813 GeneName:AC022929.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000274281; TranscriptID:ENST00000612997; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:C15orf53; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000175779; TranscriptID:ENST00000647456; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003659 20713499 NONHSAT192758.1 rs1001021 A N/A 402 european ancestry schizophrenia cases//1,021 european ancestry bipolar i cases//493 european ancestry bipolar ii cases//1,210 european ancestry mdd cases//1,060 european ancestry controls EFO_0003761 N/A Associate Schizophrenia//bipolar disorder and depression (combined) rs1001021-A of NONHSAT192758.1 is significantly associated with the schizophrenia//bipolar disorder and depression (combined) by using GWAS analysis in 402 european ancestry schizophrenia cases//1,021 european ancestry bipolar i cases//493 european ancestry bipolar ii cases//1,210 european ancestry mdd cases//1,060 european ancestry controls(p-value = 2E-6 ;OR = ?). 0.4 Cross-disorder genomewide analysis of schizophrenia, bipolar disorder, and depression. genome-wide association analysis NONHSAT192758.1 lncRNA Unipolar depression 0.33 CTTTGAATAT(G > A)TTTATAGCTT chr22: 26007633 0.8992,0.1008 0.94104389653414882,0.05895610346585117 Region score:0.36; TSS score:0.22; Unmatched score:0.24; Average GERP:-0.4645297029702972 GeneName:MYO18B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000133454; TranscriptID:ENST00000407587; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:Z98949.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000232050; TranscriptID:ENST00000440996; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003660 26563755 miR-125a rs12976445 T Dominant 282 diabetic nephropathy patients and 312 control patients EFO_0000401 N/A Increasing risk Diabetic nephropathy rs12976445-T of miR-125a and its dysfunction is significantly associated with the increasing risk of Diabetic nephropathy by using case-control analysis in 282 Diabetic nephropathy patients and 312 control patients. By using the disease cell lines or tissues, the mutation of miR-125a has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. Moreover, the ncRNA variation-disease association was validated by complex experiments. 1.4 Rs12976445 Polymorphism is Associated with Risk of Diabetic Nephropathy Through Modulating Expression of MicroRNA-125 and Interleukin-6R. case-control analysis; Function; Mechanism hsa-mir-125a miRNA Diabetic nephropathy 0.753 TCTCTGTGCC(T > C)ATCTCCATCT chr19: 51693200 0.4349,0.5651 0.53015099388379204,0.46984900611620795 Region score:0.17; TSS score:0.49; Unmatched score:0.61; Average GERP:-0.9224930693069308 GeneName:MIR125A; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000208008; TranscriptID:ENST00000385273; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR99B; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207550; TranscriptID:ENST00000384819; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIRLET7E; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000198972; TranscriptID:ENST00000362102; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SPACA6; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000182310; TranscriptID:ENST00000637797; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SPACA6P-AS; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000269959; TranscriptID:ENST00000602324; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003661 27028160 NONHSAT095826.2 rs73252553 A N/A up to 6,000 african american ancestry individuals//8,754 european ancestry individuals; at least 1,893 european ancestry individuals EFO_0008457 N/A Associate Cannabis dependence symptom count rs73252553-A of NONHSAT095826.2 is significantly associated with the cannabis dependence symptom count by using GWAS analysis in up to 6,000 african american ancestry individuals//8,754 european ancestry individuals; at least 1,893 european ancestry individuals(p-value = 5E-6 ;OR = ?). 0.4 Genome-wide Association Study of Cannabis Dependence Severity, Novel Risk Variants, and Shared Genetic Risks. genome-wide association analysis NONHSAT095826.2 lncRNA Cannabis dependence measurement 0.33 AAGCAAATTA(A > T)AATACATATA chr4: 25199696 0.9083,0.09165 0.91537652905198776,0.08462347094801223 Region score:0.5; TSS score:0.28; Unmatched score:0.35; Average GERP:0.9024990099009904 GeneName:AC104662.2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000281028; TranscriptID:ENST00000512921; AnnoType:INTRONIC; mirSVR-Score:-0.6871; mirSVR-E:-9.35 | GeneName:SEPSECS-AS1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000281501; TranscriptID:ENST00000507794; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.6871; mirSVR-E:-9.35 | NCRV0000003662 28604730 NONHSAT160778.1 rs78334599 G N/A 29,266 european ancestry cases//56,450 european ancestry controls EFO_0001071 N/A Associate Lung cancer rs78334599-G of NONHSAT160778.1 is significantly associated with the lung cancer by using GWAS analysis in 29,266 european ancestry cases//56,450 european ancestry controls(p-value = 8E-7 ;OR = 1.1687047). 0.4 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. genome-wide association analysis NONHSAT160778.1 lncRNA Lung cancer 0.33 TGTTCTGAAG(G > A)CAGACCACAG chr11: 116128039 0.9876,0.01238 0.97844195973496432,0.02155804026503567 Region score:0.5; TSS score:0.34; Unmatched score:0.06; Average GERP:-1.2260950495049503 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003663 27455349 NONHSAT205027.1 rs12513649 G N/A 3,072 samoan (founder/genetic isolate) individuals; 2,102 samoan (founder/genetic isolate) individuals EFO_0001073 N/A Associate Body mass index rs12513649-G of NONHSAT205027.1 is significantly associated with the body mass index by using GWAS analysis in 3,072 samoan (founder/genetic isolate) individuals; 2,102 samoan (founder/genetic isolate) individuals(p-value = 5E-14 ;OR = 0.041). 0.4 A thrifty variant in CREBRF strongly influences body mass index in Samoans. genome-wide association analysis NONHSAT205027.1 lncRNA Obesity 0.33 CCATCGATGA(C > G,T)GGTCTTGTAG chr5: 173045049 0.9784,0.02157,. 0.98690749235474006,0.01307658002038735,0.00001592762487257 Region score:0.34; TSS score:0.41; Unmatched score:0.27; Average GERP:-0.33954554455445557 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003664 21685187 NONHSAT189418.1 rs6136813 T N/A 3,397 european ancestry cases EFO_0005670 N/A Associate Age at smoking initiation in chronic obstructive pulmonary disease rs6136813-T of NONHSAT189418.1 is significantly associated with the age at smoking initiation in chronic obstructive pulmonary disease by using GWAS analysis in 3,397 european ancestry cases(p-value = 3E-6 ;OR = 0.043). 0.4 Genome-wide association study of smoking behaviours in patients with COPD. genome-wide association analysis NONHSAT189418.1 lncRNA Smoking initiation 0.33 TAGTAGTTTA(G > T)AATTGCAGGC chr20: 19693574 0.7069,0.2931 0.67999012487257900,0.32000987512742099 Region score:0.1; TSS score:0.13; Unmatched score:0.18; Average GERP:-0.6965990099009898 GeneName:AL121830.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000232675; TranscriptID:ENST00000608476; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000297612; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SLC24A3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000185052; TranscriptID:ENST00000328041; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003665 23300138 NONHSAT067101.2 rs1047781 T N/A 3,451 han chinese ancestry individuals; 10,326 chinese ancestry individuals EFO_0005127 N/A Associate Tumor biomarkers rs1047781-T of NONHSAT067101.2 is significantly associated with the tumor biomarkers by using GWAS analysis in 3,451 han chinese ancestry individuals; 10,326 chinese ancestry individuals(p-value = 6E-209 ;OR = 0.238). 0.4 A genome wide association study of genetic loci that influence tumour biomarkers cancer antigen 19-9, carcinoembryonic antigen and alpha fetoprotein and their associations with cancer risk. genome-wide association analysis NONHSAT067101.2 lncRNA Cancer biomarker measurement 0.33 ATACCGCCAC(A > T)TCCCGGGGGA chr19: 48703374 0.9097,0.09026 0.96699796126401630,0.03300203873598369 Region score:0.27; TSS score:0.27; Unmatched score:0.36; Average GERP:1.8214554455445546 GeneName:FUT2; CADD-Score:7; Consquence:missense; GeneID:ENSG00000176920; TranscriptID:ENST00000425340; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003666 23555923 hsa-mir-10b rs1867863 C N/a 191 patients with tnbc and 192 healthy female controls EFO_0005537 N/A No significance for risk Triple-negative breast cancer rs1867863-C of hsa-mir-10b and its dysfunction is not significantly associated with Triple-negative breast cancer by using case-control analysis in 191 patients with TNBC and 192 healthy female controls. -0.4 There is no association between microRNA gene polymorphisms and risk of triple negative breast cancer in a Chinese Han population. case-control analysis hsa-mir-10b miRNA Triple-negative breast cancer -0.33 GTCGAACGGT(G > T)GTGGCTCAGA chr2: 176150242 0.5992,0.4008 0.70424789755351681,0.29575210244648318 Region score:0.44; TSS score:0.55; Unmatched score:0.73; Average GERP:0.820009702970297 GeneName:AC009336.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000278500; TranscriptID:ENST00000468418; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXD3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000128652; TranscriptID:ENST00000432796; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXD4; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000170166; TranscriptID:ENST00000306324; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR10B; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207744; TranscriptID:ENST00000385011; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000629033; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003667 20889312 NONHSAT087043.2 rs134882 ? N/A 651 european ancestry bipolar cases//1,171 european ancestry schizophrenia cases//2,412 european ancestry controls EFO_0000677 N/A Associate Bipolar disorder and schizophrenia rs134882-? of NONHSAT087043.2 is significantly associated with the bipolar disorder and schizophrenia by using GWAS analysis in 651 european ancestry bipolar cases//1,171 european ancestry schizophrenia cases//2,412 european ancestry controls(p-value = 7E-6 ;OR = 1.2196). 0.4 A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder. genome-wide association analysis NONHSAT087043.2 lncRNA Mental or behavioural disorder 0.33 TCTAATGAGT(T > C)TGGTACTGTT chr22: 42274959 0.6803,0.3197 0.65656058868501529,0.34343941131498470 Region score:0.19; TSS score:0.19; Unmatched score:0.28; Average GERP:-0.5685821782178215 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000672991; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:OGFRP1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000182057; TranscriptID:ENST00000332965; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TCF20; CADD-Score:2; Consquence:intron; GeneID:ENSG00000100207; TranscriptID:ENST00000515426; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:Z83851.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000233903; TranscriptID:ENST00000420096; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:Z83851.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000273366; TranscriptID:ENST00000609564; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003668 25241763 NONHSAT022168.2 rs1346 T N/A 18,963 european ancestry individuals//2,131 erasmus rucphen individuals; 2,453 chinese ancestry individuals//2,026 indian ancestry individuals//2,305 malay ancestry individuals EFO_0004832 N/A Associate Vertical cup-disc ratio rs1346-T of NONHSAT022168.2 is significantly associated with the vertical cup-disc ratio by using GWAS analysis in 18,963 european ancestry individuals//2,131 erasmus rucphen individuals; 2,453 chinese ancestry individuals//2,026 indian ancestry individuals//2,305 malay ancestry individuals(p-value = 5E-13 ;OR = 0.012). 0.4 Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process. genome-wide association analysis NONHSAT022168.2 lncRNA Optic disc size measurement 0.33 GGGCGGCTGG(A > C,T)AGCGCAATGC chr11: 65569780 0.8672,.,0.1328 0.83741080530071355,.,0.16258919469928644 Region score:0.34; TSS score:0.54; Unmatched score:0.93; Average GERP:-0.6492153960396039 GeneName:FAM89B; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000176973; TranscriptID:ENST00000530349; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000264463; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000432731; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SSSCA1-AS1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000260233; TranscriptID:ENST00000623234; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SSSCA1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000173465; TranscriptID:ENST00000309328; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003669 25575512 NONHSAT115824.2 rs17830011 ? N/A 1,376 old order amish individuals EFO_0000319 N/A Associate Lipoprotein (a) - cholesterol levels rs17830011-? of NONHSAT115824.2 is significantly associated with the lipoprotein (a) - cholesterol levels by using GWAS analysis in 1,376 old order amish individuals(p-value = 5E-9 ;OR = ?). 0.4 Evidence for several independent genetic variants affecting lipoprotein (a) cholesterol levels. genome-wide association analysis NONHSAT115824.2 lncRNA Cardiovascular disease 0.33 GGCTGAGGAT(A > G)TAATGATGAA chr6: 159011534 0.985,0.01498 0.96714130988786952,0.03285869011213047 Region score:0.26; TSS score:0.19; Unmatched score:0.04; Average GERP:-0.0832346534653465 GeneName:AL035530.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000271913; TranscriptID:ENST00000646912; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003670 18391951 NONHSAT223998.1 rs1474563 T N/A 30,968 european ancestry individuals; 8,541 european ancestry individuals EFO_0004339 N/A Associate Height rs1474563-T of NONHSAT223998.1 is significantly associated with the height by using GWAS analysis in 30,968 european ancestry individuals; 8,541 european ancestry individuals(p-value = 3E-6 ;OR = 3.5). 0.4 Many sequence variants affecting diversity of adult human height. genome-wide association analysis NONHSAT223998.1 lncRNA Body height 0.33 AACCAGAATC(C > T)CAGGTTCCTA chrX: 79393696 0.6358,0.3642 0.55285582313965341,0.44714417686034658 Region score:0.52; TSS score:0.37; Unmatched score:0.04; Average GERP:-0.6010207920792078 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000909764; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003671 25886283 NONHSAT096937.2 rs6838240 C N/A 2,317 european ancestry children//1,283 african american ancestry children EFO_0004845 N/A Associate Magnesium levels rs6838240-C of NONHSAT096937.2 is significantly associated with the magnesium levels by using GWAS analysis in 2,317 european ancestry children//1,283 african american ancestry children(p-value = 2E-6 ;OR = 0.0372). 0.4 Genome-wide association study of serum minerals levels in children of different ethnic background. genome-wide association analysis NONHSAT096937.2 lncRNA Magnesium measurement 0.33 TCATAAGTAA(T > C)TCTGCTTATT chr4: 75718268 0.9403,0.0597 0.90169469928644240,0.09830530071355759 Region score:0.36; TSS score:0.12; Unmatched score:0.15; Average GERP:0.14957999999999996 GeneName:G3BP2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000138757; TranscriptID:ENST00000511868; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003672 26634245 NONHSAT158248.1 rs190509410 A N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs190509410-A of NONHSAT158248.1 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 2E-6 ;OR = 2.674). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT158248.1 lncRNA Pulmonary function measurement 0.33 AATCTCCCAA(G > A)TCTTTCAAAT chr10: 61866735 0.9988,0.001198 0.99800904689092762,0.00199095310907237 Region score:0.42; TSS score:0.22; Unmatched score:0.11; Average GERP:-0.8822178217821779 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003673 25524916 NONHSAT022816.2 rs10898909 ? N/A up to 4,176 mexican american individuals EFO_0001360 N/A Associate Glucose homeostasis traits rs10898909-? of NONHSAT022816.2 is significantly associated with the glucose homeostasis traits by using GWAS analysis in up to 4,176 mexican american individuals(p-value = 4E-6 ;OR = 1.41). 0.4 Genetic Variants Associated With Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium. genome-wide association analysis NONHSAT022816.2 lncRNA Type ii diabetes mellitus 0.33 CGGTTTACTA(G > A)ACAGAGACAA chr11: 73241451 0.7456,0.2544 0.78266755861365953,0.21733244138634046 Region score:0.36; TSS score:0.28; Unmatched score:0.42; Average GERP:-0.648268316831683 GeneName:AP002761.4; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000260401; TranscriptID:ENST00000565433; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000041838; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003674 25740697 piR_021520 rs2070766 G N/A 1147 patients with CRC (cases) and 1203 cancer-free individuals EFO_0005842 N/A no significance for risk colorectal cancer rs2070766-G of piR_021520 and its dysfunction is not significantly associated with Colorectal cancer by using case-control analysis in 1147 patients with CRC (cases) and 1203 cancer-free individuals -0.4 Genetic variants in noncoding PIWI-interacting RNA and colorectal cancer risk. case-control analysis piR_021520 piRNA Colorectal cancer -0.33 CCTCCTCCCC(C > A,G,T)CGCAGGGTCT chr22: 23895034 0.8265,.,0.1735,. 0.82873821355759429,.,0.17123789500509683,0.00002389143730886 Region score:0.42; TSS score:0.51; Unmatched score:0.93; Average GERP:1.0667227722772277 GeneName:AP000350.4; CADD-Score:5; Consquence:splice,intron; GeneID:ENSG00000251357; TranscriptID:ENST00000433835; AnnoType:SPLICE_SITE; mirSVR-Score:-0.1886; mirSVR-E:-15.78 | GeneName:MIF-AS1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000218537; TranscriptID:ENST00000406213; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.1886; mirSVR-E:-15.78 | GeneName:MIF; CADD-Score:5; Consquence:splice,intron; GeneID:ENSG00000240972; TranscriptID:ENST00000215754; AnnoType:SPLICE_SITE; mirSVR-Score:-0.1886; mirSVR-E:-15.78 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000144308; AnnoType:REGULATORY; mirSVR-Score:-0.1886; mirSVR-E:-15.78 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000668130; AnnoType:REGULATORY; mirSVR-Score:-0.1886; mirSVR-E:-15.78 | NCRV0000003675 23251661 NONHSAT210092.1 rs12190007 A N/A 815 hispanic children from 263 families EFO_0005116 N/A Associate Obesity-related traits rs12190007-A of NONHSAT210092.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 5E-6 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. genome-wide association analysis NONHSAT210092.1 lncRNA Urinary metabolite measurement 0.33 TTTTCAGTAT(G > A)TTTATCCAGC chr6: 169327506 0.7424,0.2576 0.63519367991845056,0.36480632008154943 Region score:0.45; TSS score:0.32; Unmatched score:0.1; Average GERP:-0.22402871287128712 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003676 29419695 miRNA-423 rs6505162 A N/A 117 colorectal carcinoma patients and 84 healthy controls EFO_0005842 N/A decreasing risk colorectal cancer rs6505162-A of hsa-mir-423 and its dysfunction is significantly associated with the decreasing risk of Colorectal cancer by using case-control analysis in 117 colorectal carcinoma patients and 84 healthy controls 0.4 Association of microRNA-423 rs6505162 C>A polymorphism with susceptibility and metastasis of colorectal carcinoma. case-control analysis hsa-mir-423 miRNA Colorectal cancer 0.451 TTGCTTCCTA(A > C,T)CCCGCGCTTG chr17: 30117165 0.5022,0.4978,. 0.57055937818552497,0.42940876656472986,0.00003185524974515 Region score:0.43; TSS score:0.32; Unmatched score:0.93; Average GERP:3.269841584158416 GeneName:AC104984.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000265394; TranscriptID:ENST00000582938; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC104984.5; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000266919; TranscriptID:ENST00000586878; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3184; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284399; TranscriptID:ENST00000637796; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR423; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000283935; TranscriptID:ENST00000362201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000092957; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NSRP1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000126653; TranscriptID:ENST00000247026; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003676 22028396 miR-423 rs6505162 ? N/a 408 crc patients with surgically-resected adenocarcinoma EFO_0005842 N/A Poor prognosis Colorectal cancer rs6505162-? of miR-423 and its dysfunction is significantly associated with the increasing risk of colorectal cancer by using case-control analysis in 408 CRC patients with surgically-resected adenocarcinoma. 0.4 Genetic polymorphisms in pre-microRNA genes as prognostic markers of colorectal cancer. case-control analysis hsa-mir-423 miRNA Colorectal cancer 0.451 TTGCTTCCTA(A > C,T)CCCGCGCTTG chr17: 30117165 0.5022,0.4978,. 0.57055937818552497,0.42940876656472986,0.00003185524974515 Region score:0.43; TSS score:0.32; Unmatched score:0.93; Average GERP:3.269841584158416 GeneName:AC104984.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000265394; TranscriptID:ENST00000582938; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC104984.5; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000266919; TranscriptID:ENST00000586878; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3184; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284399; TranscriptID:ENST00000637796; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR423; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000283935; TranscriptID:ENST00000362201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000092957; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NSRP1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000126653; TranscriptID:ENST00000247026; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003677 21123754 NONHSAT179794.1 rs439401 ? N/A 96 european ancestry alzheimer disease cases//176 european ancestry individuals with mild cognitive impairment//102 european ancestry controls EFO_0000249 N/A Associate Alzheimer's disease biomarkers rs439401-? of NONHSAT179794.1 is significantly associated with the alzheimer's disease biomarkers by using GWAS analysis in 96 european ancestry alzheimer disease cases//176 european ancestry individuals with mild cognitive impairment//102 european ancestry controls(p-value = 1E-6 ;OR = ?). 0.4 Genome-wide association study of CSF biomarkers Abeta1-42, t-tau, and p-tau181p in the ADNI cohort. genome-wide association analysis NONHSAT179794.1 lncRNA Alzheimers disease 0.33 CACTCTCTTC(T > C)CCTCCCACCC chr19: 44911194 0.405,0.595 0.33394654689092762,0.66605345310907237 Region score:0.4; TSS score:0.49; Unmatched score:0.53; Average GERP:-0.639925742574257 GeneName:AC011481.3; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000280087; TranscriptID:ENST00000623895; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:APOC1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000130208; TranscriptID:ENST00000588750; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:APOE; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000130203; TranscriptID:ENST00000252486; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000110120; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000591179; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003678 26198764 NONHSAT128128.2 rs13276960 G N/A 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls EFO_0000692 N/A Associate Schizophrenia rs13276960-G of NONHSAT128128.2 is significantly associated with the schizophrenia by using GWAS analysis in 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls(p-value = 5E-6 ;OR = 1.0638298). 0.4 Genome-wide association study of schizophrenia in Ashkenazi Jews. genome-wide association analysis NONHSAT128128.2 lncRNA Schizophrenia 0.33 GCGCAATCCC(G > A,C)GTTCACCGCA chr8: 102895776 0.9016,0.09844,. 0.84868756371049949,0.14816673037716615,0.00314570591233435 Region score:0.15; TSS score:0.21; Unmatched score:0.23; Average GERP:-0.27791089108910894 GeneName:AP003354.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000253263; TranscriptID:ENST00000523791; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AZIN1-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000253320; TranscriptID:ENST00000520750; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AZIN1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000155096; TranscriptID:ENST00000517581; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003679 27126917 NONHSAT001472.2 rs2473317 G N/A 874 european ancestry individuals EFO_0007828 N/A Associate Daytime sleep phenotypes rs2473317-G of NONHSAT001472.2 is significantly associated with the daytime sleep phenotypes by using GWAS analysis in 874 european ancestry individuals(p-value = 3E-6 ;OR = 0.8577). 0.4 Genome-wide association analysis of actigraphic sleep phenotypes in the LIFE Adult Study. genome-wide association analysis NONHSAT001472.2 lncRNA Daytime rest measurement 0.33 GTTTCTGAGT(C > G)CAGTCTTCTT chr1: 22068758 0.8279,0.1721 0.83186799184505606,0.16813200815494393 Region score:0.49; TSS score:0.27; Unmatched score:0.22; Average GERP:1.3999326732673267 GeneName:AL031281.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000271428; TranscriptID:ENST00000604049; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AL031281.2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000285721; TranscriptID:ENST00000648594; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CDC42; CADD-Score:2; Consquence:intron; GeneID:ENSG00000070831; TranscriptID:ENST00000400259; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CDC42-IT1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000230068; TranscriptID:ENST00000431803; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000350191; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003680 28430825 NONHSAT181960.1 rs18122 G N/A 4,783 african american men//15,601 african american women; 981 african american men//1,730 african american women//104,079 european ancestry men//116,742 european ancestry women EFO_0007788 N/A Associate Waist-to-hip ratio adjusted for body mass index rs18122-G of NONHSAT181960.1 is significantly associated with the waist-to-hip ratio adjusted for body mass index by using GWAS analysis in 4,783 african american men//15,601 african american women; 981 african american men//1,730 african american women//104,079 european ancestry men//116,742 european ancestry women(p-value = 5E-6 ;OR = 0.061). 0.4 Discovery and fine-mapping of adiposity loci using high density imputation of genome-wide association studies in individuals of African ancestry: African Ancestry Anthropometry Genetics Consortium. genome-wide association analysis NONHSAT181960.1 lncRNA Bmi-adjusted waist-hip ratio 0.33 GTTTCTTGCT(G > A)TCTCAGAAAA chr2: 67427302 0.2728,0.7272 0.26401630988786952,0.73598369011213047 Region score:0.35; TSS score:0.17; Unmatched score:0.05; Average GERP:0.38001386138613874 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003681 26152337 miRNA 1268a rs28599926 T Dominant 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A increased risk and poor prognosis hepatocellular carcinoma rs28599926-T of hsa-mir-1268a and its dysfunction is significantly associated with the increasing risk and poor prognosis of Hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors 0.9 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. case-control analysis hsa-mir-1268a miRNA Hepatocellular carcinoma 0.593 CCCACCACCA(C > T)GCCCGGCTAA chr15: 22225320 0 0.84086709989806320,0.15913290010193679 Region score:0.37; TSS score:0.07; Unmatched score:0.3; Average GERP:0 GeneName:MIR1268A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000221641; TranscriptID:ENST00000408714; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000276611; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003682 16251535 miR-122a rs41292412 T Dominant 75 patients with CLL and 160 control subjects EFO_0000095 N/A increasing risk chronic lymphocytic leukemia rs41292412-T of hsa-mir-122 and its dysfunction is significantly associated with the increasing risk of Chronic lymphocytic leukemia by using case-control analysis in 75 patients with CLL and 160 control subjects 0.4 A MicroRNA signature associated with prognosis and progression in chronic lymphocytic leukemia. case-control analysis hsa-mir-122 miRNA Chronic lymphocytic leukemia 0.33 AACTATCAAA(C > T)GCCATTATCA chr18: 58451126 0.997,0.002995 0.99324668705402650,0.00675331294597349 Region score:0.69; TSS score:0.53; Unmatched score:0.55; Average GERP:3.8497643564356383 GeneName:MIR122; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000284440; TranscriptID:ENST00000385044; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR122HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000267391; TranscriptID:ENST00000590797; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3591; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207778; TranscriptID:ENST00000636727; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003683 27863252 NONHSAT147868.2 rs2335455 C N/A 171,771 european ancestry individuals EFO_0009389 N/A Associate Sum eosinophil basophil counts rs2335455-C of NONHSAT147868.2 is significantly associated with the sum eosinophil basophil counts by using GWAS analysis in 171,771 european ancestry individuals(p-value = 5E-12 ;OR = 0.02845915). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT147868.2 lncRNA Sum of eosinophil and basophil counts 0.33 GGTGCGATTT(T > C)TGCCTCGGCA chr16: 2778172 0.3568,0.6432 0.27581867991845056,0.72418132008154943 N/A GeneName:AC092117.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000276791; TranscriptID:ENST00000621230; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ELOB; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000103363; TranscriptID:ENST00000262306; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000082541; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003684 27455348 NONHSAT191051.1 rs75087725 ? N/A 12,577 european ancestry cases//23,475 european ancestry controls; 2,579 european ancestry cases//2,767 european ancestry controls EFO_0000253 N/A Associate Amyotrophic lateral sclerosis rs75087725-? of NONHSAT191051.1 is significantly associated with the amyotrophic lateral sclerosis by using GWAS analysis in 12,577 european ancestry cases//23,475 european ancestry controls; 2,579 european ancestry cases//2,767 european ancestry controls(p-value = 3E-10 ;OR = 1.47). 0.4 Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis. genome-wide association analysis NONHSAT191051.1 lncRNA Amyotrophic lateral sclerosis 0.33 CACCGGCTCA(C > A)AGGCTCCAGG chr21: 44333234 0.9974,0.002596 0.99307944699286442,0.00692055300713557 Region score:0.15; TSS score:0.16; Unmatched score:0.67; Average GERP:1.7002376237623764 GeneName:AP001062.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000184441; TranscriptID:ENST00000448927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AP001062.3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000241728; TranscriptID:ENST00000422357; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CFAP410; CADD-Score:7; Consquence:missense; GeneID:ENSG00000160226; TranscriptID:ENST00000397956; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003685 22778062 SNORD98 rs41278526 A N/a N/a function N/A Not significant changes in the structure Function rs41278526-A of SNORD98 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD98 snoRNA Function -0.049 TGAACTGAAC(T > A)CTTCCTTGAC chr10: 68755237 0.9998,0.0001997 0.99980090468909276,0.00019909531090723 Region score:0.68; TSS score:0.34; Unmatched score:0.64; Average GERP:4.628524752475247 GeneName:CCAR1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000060339; TranscriptID:ENST00000265872; AnnoType:INTRONIC; mirSVR-Score:-0.1227; mirSVR-E:-10.02 | GeneName:MIR1254-1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000221184; TranscriptID:ENST00000408257; AnnoType:UPSTREAM; mirSVR-Score:-0.1227; mirSVR-E:-10.02 | GeneName:SNORD98; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000283551; TranscriptID:ENST00000636377; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.1227; mirSVR-E:-10.02 | NCRV0000003686 27225129 NONHSAT151920.1 rs1008078 T N/A 405,072 european ancestry individuals EFO_0004784 N/A Associate Educational attainment (years of education) rs1008078-T of NONHSAT151920.1 is significantly associated with the educational attainment (years of education) by using GWAS analysis in 405,072 european ancestry individuals(p-value = 3E-14 ;OR = 0.017238006). 0.4 Genome-wide association study identifies 74 loci associated with educational attainment. genome-wide association analysis NONHSAT151920.1 lncRNA Self reported educational attainment 0.451 GTGCCTCCCA(C > T)CCAGCCCACG chr1: 90724174 0.6981,0.3019 0.68616207951070336,0.31383792048929663 Region score:0.26; TSS score:0.66; Unmatched score:0.49; Average GERP:-0.7951069306930696 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000364927; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003686 27225129 NONHSAT151920.1 rs1008078 ? N/A 405,072 european ancestry individuals EFO_0004784 N/A Associate Educational attainment (college completion) rs1008078-? of NONHSAT151920.1 is significantly associated with the educational attainment (college completion) by using GWAS analysis in 405,072 european ancestry individuals(p-value = 5E-9 ;OR = 1.0357074). 0.4 Genome-wide association study identifies 74 loci associated with educational attainment. genome-wide association analysis NONHSAT151920.1 lncRNA Self reported educational attainment 0.451 GTGCCTCCCA(C > T)CCAGCCCACG chr1: 90724174 0.6981,0.3019 0.68616207951070336,0.31383792048929663 Region score:0.26; TSS score:0.66; Unmatched score:0.49; Average GERP:-0.7951069306930696 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000364927; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003687 27863252 NONHSAT208858.1 rs6917586 A N/A 169,822 european ancestry individuals EFO_0007987 N/A Associate Granulocyte count rs6917586-A of NONHSAT208858.1 is significantly associated with the granulocyte count by using GWAS analysis in 169,822 european ancestry individuals(p-value = 2E-11 ;OR = 0.02532662). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT208858.1 lncRNA Granulocyte count 0.33 AGCACGCAAC(G > A)TTTATTACCA chr6: 21381296 0.5769,0.4231 0.63512996941896024,0.36487003058103975 Region score:0.3; TSS score:0.22; Unmatched score:0.11; Average GERP:-0.6859223762376232 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003688 23535732 NONHSAT168436.1 rs8008270 G N/A 11,085 european ancestry cases//11,463 european ancestry controls; 19,662 european ancestry cases//19,715 european ancestry controls EFO_0001663 N/A Associate Prostate cancer rs8008270-G of NONHSAT168436.1 is significantly associated with the prostate cancer by using GWAS analysis in 11,085 european ancestry cases//11,463 european ancestry controls; 19,662 european ancestry cases//19,715 european ancestry controls(p-value = 2E-14 ;OR = 1.12). 0.4 Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. genome-wide association analysis NONHSAT168436.1 lncRNA Prostate cancer 0.33 CGAGACAAAA(T > C,G)GAACATTTCG chr14: 52905612 0.1486,0.8514,. 0.19928644240570846,0.79869871304791029,0.00201484454638124 Region score:0.36; TSS score:0.23; Unmatched score:0.17; Average GERP:-0.23276633663366333 GeneName:AL139317.5; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000285664; TranscriptID:ENST00000649005; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:FERMT2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000073712; TranscriptID:ENST00000343279; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000068477; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003689 18839057 NONHSAT015818.2 rs10786284 ? N/A 343 european ancestry cases//250 european ancestry controls//54 controls EFO_0003888 N/A Associate Attention deficit hyperactivity disorder rs10786284-? of NONHSAT015818.2 is significantly associated with the attention deficit hyperactivity disorder by using GWAS analysis in 343 european ancestry cases//250 european ancestry controls//54 controls(p-value = 2E-6 ;OR = ?). 0.4 Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies. genome-wide association analysis NONHSAT015818.2 lncRNA Attention deficit hyperactivity disorder 0.33 CCAATAAACA(A > C,T)CCTGCAAGTC chr10: 96375748 0.5016,.,0.4984 0.57897712793068297,0.00011149337410805,0.42091137869520897 Region score:0.37; TSS score:0.45; Unmatched score:0.77; Average GERP:-1.963530693069307 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000032043; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000412789; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TLL2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000095587; TranscriptID:ENST00000357947; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003690 22581228 NONHSAT009449.2 rs340874 T N/A up to 58,074 european ancestry individuals; up tp 38,422 european ancestry individuals EFO_0001360 N/A Associate Fasting blood glucose rs340874-T of NONHSAT009449.2 is significantly associated with the fasting blood glucose by using GWAS analysis in up to 58,074 european ancestry individuals; up tp 38,422 european ancestry individuals(p-value = 9E-7 ;OR = 0.0159). 0.4 A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance. genome-wide association analysis NONHSAT009449.2 lncRNA Type ii diabetes mellitus 0.52 GAAAGGTATA(T > C)AGCCCTTACT chr1: 213985913 0.624,0.376 0.59364647043832823,0.40635352956167176 Region score:0.28; TSS score:0.42; Unmatched score:0.83; Average GERP:1.4297960396039602 GeneName:AC011700.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000274895; TranscriptID:ENST00000610409; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000019842; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PROX1-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000230461; TranscriptID:ENST00000433082; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PROX1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000117707; TranscriptID:ENST00000366958; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003690 20081858 NONHSAT009449.2 rs340874 C N/A 46,186 european ancestry individuals; 76,558 european ancestry individuals EFO_0001360 N/A Associate Fasting blood glucose rs340874-C of NONHSAT009449.2 is significantly associated with the fasting blood glucose by using GWAS analysis in 46,186 european ancestry individuals; 76,558 european ancestry individuals(p-value = 7E-12 ;OR = 0.013). 0.4 New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. genome-wide association analysis NONHSAT009449.2 lncRNA Type ii diabetes mellitus 0.52 GAAAGGTATA(T > C)AGCCCTTACT chr1: 213985913 0.624,0.376 0.59364647043832823,0.40635352956167176 Region score:0.28; TSS score:0.42; Unmatched score:0.83; Average GERP:1.4297960396039602 GeneName:AC011700.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000274895; TranscriptID:ENST00000610409; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000019842; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PROX1-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000230461; TranscriptID:ENST00000433082; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PROX1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000117707; TranscriptID:ENST00000366958; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003690 28869590 NONHSAT009449.2 rs340874 C N/A 6,353 south asian ancestry cases//7,179 south asian ancestry controls//3,871 european ancestry cases//16,427 european ancestry controls//34,840 cases//114,981 controls; 7,888 south asian ancestry cases//20,679 south asian ancestry controls//387 european ancestry cases//2,092 european ancestry controls//19,998 east asian ancestry cases//30,983 east asian ancestry controls EFO_0001360 N/A Associate Type 2 diabetes rs340874-C of NONHSAT009449.2 is significantly associated with the type 2 diabetes by using GWAS analysis in 6,353 south asian ancestry cases//7,179 south asian ancestry controls//3,871 european ancestry cases//16,427 european ancestry controls//34,840 cases//114,981 controls; 7,888 south asian ancestry cases//20,679 south asian ancestry controls//387 european ancestry cases//2,092 european ancestry controls//19,998 east asian ancestry cases//30,983 east asian ancestry controls(p-value = 1E-8 ;OR = 0.0597). 0.4 Identification of new susceptibility loci for type 2 diabetes and shared etiological pathways with coronary heart disease. genome-wide association analysis NONHSAT009449.2 lncRNA Type ii diabetes mellitus 0.52 GAAAGGTATA(T > C)AGCCCTTACT chr1: 213985913 0.624,0.376 0.59364647043832823,0.40635352956167176 Region score:0.28; TSS score:0.42; Unmatched score:0.83; Average GERP:1.4297960396039602 GeneName:AC011700.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000274895; TranscriptID:ENST00000610409; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000019842; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PROX1-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000230461; TranscriptID:ENST00000433082; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PROX1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000117707; TranscriptID:ENST00000366958; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003691 26830138 NONHSAT175466.1 rs34111070 T N/A 2,478 european ancestry cases//979 ancestry controls both from the same 1,070 families EFO_0000249 N/A Associate Alzheimer disease and age of onset rs34111070-T of NONHSAT175466.1 is significantly associated with the alzheimer disease and age of onset by using GWAS analysis in 2,478 european ancestry cases//979 ancestry controls both from the same 1,070 families(p-value = 1E-6 ;OR = 4.892). 0.4 Family-based association analyses of imputed genotypes reveal genome-wide significant association of Alzheimer's disease with OSBPL6, PTPRG, and PDCL3. genome-wide association analysis NONHSAT175466.1 lncRNA Alzheimers disease 0.33 TGTTAAATTT(T > C)GGGAAAGATA chr17: 63716838 0.9862,0.01378 0.98085499490316004,0.01914500509683995 Region score:0.4; TSS score:0.16; Unmatched score:0.18; Average GERP:-0.11609009900990097 GeneName:AC046185.1; CADD-Score:2; Consquence:intron,NMD; GeneID:ENSG00000125695; TranscriptID:ENST00000580553; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:STRADA; CADD-Score:2; Consquence:intron; GeneID:ENSG00000266173; TranscriptID:ENST00000336174; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003692 28928442 NONHSAT149567.1 rs199656906 ? N/A 16,711 european ancestry cases//118,152 european ancestry controls EFO_0008401 N/A Associate Shingles rs199656906-? of NONHSAT149567.1 is significantly associated with the shingles by using GWAS analysis in 16,711 european ancestry cases//118,152 european ancestry controls(p-value = 9E-6 ;OR = 0.1907). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. genome-wide association analysis NONHSAT149567.1 lncRNA Susceptibility to shingles measurement 0.33 TTACAGTTAA(A > AAAC)AACAACAACA chr1: 110414156 0.9988,0.001198 0.99845502038735983,0.00154497961264016 N/A GeneName:LAMTOR5-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000224699; TranscriptID:ENST00000626572; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003693 19214202 ANRIL rs2891168 ? Dominant 2201 chd cases, and 1472 controls EFO_0001645 N/A Increasing risk Coronary heart disease rs2891168-? of ANRIL and its dysfunction is significantly associated with the increasing risk of coronary heart disease by using case-control analysis in 2201 CHD cases, and 1472 controls. 0.4 Identification of a shared genetic susceptibility locus for coronary heart disease and periodontitis. case-control analysis ANRIL lncRNA Coronary heart disease 0.33 TGTTTGGAAC(A > G)CCAACTCTGT chr9: 22098620 0.597,0.403 0.59632231141692150,0.40367768858307849 Region score:0.36; TSS score:0.52; Unmatched score:0.27; Average GERP:-0.6553643564356437 GeneName:CDKN2B-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000240498; TranscriptID:ENST00000428597; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000877595; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003694 21685187 NONHSAT182644.1 rs10189546 G N/A 3,397 european ancestry cases EFO_0005670 N/A Associate Age at smoking initiation in chronic obstructive pulmonary disease rs10189546-G of NONHSAT182644.1 is significantly associated with the age at smoking initiation in chronic obstructive pulmonary disease by using GWAS analysis in 3,397 european ancestry cases(p-value = 2E-6 ;OR = 0.059). 0.4 Genome-wide association study of smoking behaviours in patients with COPD. genome-wide association analysis NONHSAT182644.1 lncRNA Smoking initiation 0.33 AAGAACCACA(G > A)GCGGACTTCC chr2: 129710284 0.7676,0.2324 0.83128663353720693,0.16871336646279306 Region score:0.3; TSS score:0.25; Unmatched score:0.11; Average GERP:0.0763960396039606 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000620037; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003695 27927641 NONHSAT173311.1 rs78507369 ? N/A 178 european ancestry cases//434 european ancestry controls//81 hispanic/latin american cases//177 hispanic/latin american controls//511 cases//6,336 controls EFO_1001999 N/A Associate Systemic juvenile idiopathic arthritis rs78507369-? of NONHSAT173311.1 is significantly associated with the systemic juvenile idiopathic arthritis by using GWAS analysis in 178 european ancestry cases//434 european ancestry controls//81 hispanic/latin american cases//177 hispanic/latin american controls//511 cases//6,336 controls(p-value = 2E-6 ;OR = 3.0). 0.4 Genetic architecture distinguishes systemic juvenile idiopathic arthritis from other forms of juvenile idiopathic arthritis: clinical and therapeutic implications. genome-wide association analysis NONHSAT173311.1 lncRNA Systemic juvenile idiopathic arthritis 0.33 GAGGTTTCAC(A > G)TTGTTACATC chr16: 78271396 0.9866,0.01338 0.97496973751274209,0.02503026248725790 Region score:0.25; TSS score:0.19; Unmatched score:0.06; Average GERP:0.28768316831683155 GeneName:WWOX; CADD-Score:2; Consquence:intron; GeneID:ENSG00000186153; TranscriptID:ENST00000566780; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003696 27863252 NONHSAT119065.2 rs6967414 A N/A 172,925 european ancestry individuals EFO_0004509 N/A Associate Hemoglobin concentration rs6967414-A of NONHSAT119065.2 is significantly associated with the hemoglobin concentration by using GWAS analysis in 172,925 european ancestry individuals(p-value = 4E-10 ;OR = 0.03590529). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT119065.2 lncRNA Hemoglobin measurement 0.33 ATCCATGGCA(G > A)TTGAAAAACA chr7: 6710127 0.635,0.365 0.70478147298674821,0.29521852701325178 Region score:0.44; TSS score:0.14; Unmatched score:0.37; Average GERP:0.10031683168316811 GeneName:AC073343.2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000228010; TranscriptID:ENST00000366167; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0742; mirSVR-E:-8.32 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000815989; AnnoType:REGULATORY; mirSVR-Score:-0.0742; mirSVR-E:-8.32 | GeneName:PMS2CL; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000187953; TranscriptID:ENST00000486256; AnnoType:UPSTREAM; mirSVR-Score:-0.0742; mirSVR-E:-8.32 | GeneName:ZNF12; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000164631; TranscriptID:ENST00000405858; AnnoType:UPSTREAM; mirSVR-Score:-0.0742; mirSVR-E:-8.32 | NCRV0000003697 22778062 SNORD114-3 rs73350929 A N/a N/a function N/A Not significant changes in the structure Function rs73350929-A of SNORD114-3 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD114-3 snoRNA Function -0.049 TAAACATGGA(C > A)CAATGATGAC chr14: 100953353 0.9976,0.002396 0.99644017584097859,0.00355982415902140 Region score:0.52; TSS score:0.12; Unmatched score:0.67; Average GERP:-0.4169255102040814 GeneName:MEG8; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000225746; TranscriptID:ENST00000638012; AnnoType:INTRONIC; mirSVR-Score:-0.1079; mirSVR-E:-10.46 | GeneName:RF00181; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000200150; TranscriptID:ENST00000363280; AnnoType:UPSTREAM; mirSVR-Score:-0.1079; mirSVR-E:-10.46 | GeneName:SNORD114-1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000199575; TranscriptID:ENST00000362705; AnnoType:DOWNSTREAM; mirSVR-Score:-0.1079; mirSVR-E:-10.46 | GeneName:SNORD114-2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000200823; TranscriptID:ENST00000363953; AnnoType:DOWNSTREAM; mirSVR-Score:-0.1079; mirSVR-E:-10.46 | GeneName:SNORD114-3; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000201839; TranscriptID:ENST00000364969; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.1079; mirSVR-E:-10.46 | GeneName:SNORD114-4; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000200832; TranscriptID:ENST00000363962; AnnoType:UPSTREAM; mirSVR-Score:-0.1079; mirSVR-E:-10.46 | GeneName:SNORD114-5; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000199798; TranscriptID:ENST00000362928; AnnoType:UPSTREAM; mirSVR-Score:-0.1079; mirSVR-E:-10.46 | GeneName:SNORD114-6; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000201263; TranscriptID:ENST00000364393; AnnoType:UPSTREAM; mirSVR-Score:-0.1079; mirSVR-E:-10.46 | NCRV0000003698 25574825 NONHSAT067101.2 rs1047781 C N/A 4,212 european ancestry cases//8,032 european ancestry controls EFO_0000676 N/A Associate Psoriasis rs1047781-C of NONHSAT067101.2 is significantly associated with the psoriasis by using GWAS analysis in 4,212 european ancestry cases//8,032 european ancestry controls(p-value = 4E-8 ;OR = 1.183432). 0.4 Genome-wide comparative analysis of atopic dermatitis and psoriasis gives insight into opposing genetic mechanisms. genome-wide association analysis NONHSAT067101.2 lncRNA Psoriasis 0.33 ATACCGCCAC(A > T)TCCCGGGGGA chr19: 48703374 0.9097,0.09026 0.96699796126401630,0.03300203873598369 Region score:0.27; TSS score:0.27; Unmatched score:0.36; Average GERP:1.8214554455445546 GeneName:FUT2; CADD-Score:7; Consquence:missense; GeneID:ENSG00000176920; TranscriptID:ENST00000425340; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003699 27863252 NONHSAT188791.1 rs4142441 G N/A 170,721 european ancestry individuals EFO_0005091 N/A Associate Monocyte count rs4142441-G of NONHSAT188791.1 is significantly associated with the monocyte count by using GWAS analysis in 170,721 european ancestry individuals(p-value = 4E-11 ;OR = 0.03335394). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT188791.1 lncRNA Monocyte count 0.33 CGTGCGCCTT(A > G)CGTAATTTCC chr20: 44210980 0.8377,0.1623 0.85020865188583078,0.14979134811416921 Region score:0.55; TSS score:0.41; Unmatched score:0.94; Average GERP:0.8392910891089101 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000137486; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:OSER1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000132823; TranscriptID:ENST00000372970; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:OSER1-DT; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000223891; TranscriptID:ENST00000437730; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003700 22747683 NONHSAT182525.1 rs4849887 T N/A 16,175 european ancestry female individuals EFO_0004884 N/A Associate Breast size rs4849887-T of NONHSAT182525.1 is significantly associated with the breast size by using GWAS analysis in 16,175 european ancestry female individuals(p-value = 3E-11 ;OR = 0.166). 0.4 Genetic variants associated with breast size also influence breast cancer risk. genome-wide association analysis NONHSAT182525.1 lncRNA Breast size 0.33 TCTGGCAATG(T > A,C)TGAAGCTTGA chr2: 120487546 0.2085,.,0.7915 0.16872929408766564,0.00562245158002038,0.82564825433231396 Region score:0.4; TSS score:0.27; Unmatched score:0.23; Average GERP:-1.9439574257425747 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003701 27863252 NONHSAT003744.2 rs1892534 T N/A 169,822 european ancestry individuals EFO_0007987 N/A Associate Granulocyte count rs1892534-T of NONHSAT003744.2 is significantly associated with the granulocyte count by using GWAS analysis in 169,822 european ancestry individuals(p-value = 4E-37 ;OR = 0.04711612). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT003744.2 lncRNA Granulocyte count 0.33 GCTGATGGAT(C > T)AAGACATACT chr1: 65640261 0.4661,0.5339 0.55370795107033639,0.44629204892966360 Region score:0.29; TSS score:0.71; Unmatched score:0.7; Average GERP:-1.211846534653465 GeneName:LEPR; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000116678; TranscriptID:ENST00000349533; AnnoType:3PRIME_UTR; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003702 26265036 NONHSAT211871.1 rs245880 A N/A 180 low dose brazilian ancestry individuals//187 high dose brazilian ancestry individuals; 798 european ancestry individuals//1611 japanese ancestry individuals//191 african american individuals GO_0061476 N/A Associate Warfarin maintenance dose rs245880-A of NONHSAT211871.1 is significantly associated with the warfarin maintenance dose by using GWAS analysis in 180 low dose brazilian ancestry individuals//187 high dose brazilian ancestry individuals; 798 european ancestry individuals//1611 japanese ancestry individuals//191 african american individuals(p-value = 8E-6 ;OR = 4.6948357). 0.4 Genome-wide association study of warfarin maintenance dose in a Brazilian sample. genome-wide association analysis NONHSAT211871.1 lncRNA Response to anticoagulant 0.33 TCCTGGTCCC(A > G)GAAACCTGGC chr7: 29146640 0.4227,0.5773 0.51457377675840978,0.48542622324159021 Region score:0.37; TSS score:0.43; Unmatched score:0.92; Average GERP:-0.9715821782178217 GeneName:AC004593.3; CADD-Score:5; Consquence:synonymous; GeneID:ENSG00000285162; TranscriptID:ENST00000644824; AnnoType:SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CHN2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000106069; TranscriptID:ENST00000470261; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CPVL; CADD-Score:2; Consquence:intron; GeneID:ENSG00000106066; TranscriptID:ENST00000409850; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000210193; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003703 27863252 NONHSAT209787.1 rs668887 A N/A 170,763 european ancestry individuals EFO_0007986 N/A Associate High light scatter reticulocyte count rs668887-A of NONHSAT209787.1 is significantly associated with the high light scatter reticulocyte count by using GWAS analysis in 170,763 european ancestry individuals(p-value = 1E-176 ;OR = 0.2733505). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT209787.1 lncRNA Reticulocyte count 0.33 ACAACAGATT(G > A)TACATGCATT chr6: 139514643 0.04692,0.9531 0.06109836901121304,0.93890163098878695 Region score:0.28; TSS score:0.19; Unmatched score:0.09; Average GERP:-0.07721881188118808 GeneName:AL592429.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000226571; TranscriptID:ENST00000647815; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003704 26152337 hsa-mir-548a-1 rs12197631 G N/A 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A no significance for risk hepatocellular carcinoma rs12197631-G of hsa-mir-548a-1 and its dysfunction is not significantly associated with Hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors -0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. case-control analysis hsa-mir-548a-1 miRNA Hepatocellular carcinoma -0.33 ATTGTGATTT(T > G)TGCCATTAAA chr6: 18571825 0.8602,0.1398 0.87729357798165137,0.12270642201834862 Region score:0.29; TSS score:0.14; Unmatched score:0.42; Average GERP:-0.10479801980198034 GeneName:MIR548A1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207775; TranscriptID:ENST00000385041; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR548A1HG; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000283408; TranscriptID:ENST00000637804; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003705 22863734 NONHSAT197280.1 rs7632427 T N/A up to 666 european ancestry trios//399 european ancestry cases//1,318 european ancestry controls; up to 795 east asian ancestry trios MONDO_0000358 N/A Associate Orofacial clefts rs7632427-T of NONHSAT197280.1 is significantly associated with the orofacial clefts by using GWAS analysis in up to 666 european ancestry trios//399 european ancestry cases//1,318 european ancestry controls; up to 795 east asian ancestry trios(p-value = 4E-8 ;OR = 1.37). 0.4 Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci. genome-wide association analysis NONHSAT197280.1 lncRNA Orofacial cleft 0.451 N/A N/A N/A N/A N/A N/A NCRV0000003705 22863734 NONHSAT197280.1 rs7632427 ? N/A up to 666 european ancestry trios//399 european ancestry cases//1,318 european ancestry controls; up to 795 east asian ancestry trios MONDO_0000358 N/A Associate Orofacial clefts rs7632427-? of NONHSAT197280.1 is significantly associated with the orofacial clefts by using GWAS analysis in up to 666 european ancestry trios//399 european ancestry cases//1,318 european ancestry controls; up to 795 east asian ancestry trios(p-value = 4E-8 ;OR = ?). 0.4 Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci. genome-wide association analysis NONHSAT197280.1 lncRNA Orofacial cleft 0.451 N/A N/A N/A N/A N/A N/A NCRV0000003706 26077004 let-7 rs61764370 G N/a 195 breast cancer samples EFO_0000305 N/A Increasing risk Breast cancer rs61764370-G of let-7 and its dysfunction is significantly associated with the increasing risk of breast cancer by using case-control analysis in 195 breast cancer samples. 0.4 Comparison of the prevalence of KRAS-LCS6 polymorphism (rs61764370) within different tumour types (colorectal, breast, non-small cell lung cancer and brain tumours). A study of the Czech population. case-control analysis hsa-let-7a-1 miRNA Breast cancer 0.33 AAGGTGGGTG(A > C)ATCACTTGAG chr12: 25207290 0.9653,0.03474 0.93713366462793068,0.06286633537206931 Region score:0.55; TSS score:0.62; Unmatched score:0.6; Average GERP:0.16988118811881203 GeneName:AC092794.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000274987; TranscriptID:ENST00000612734; AnnoType:UPSTREAM; mirSVR-Score:-0.0434; mirSVR-E:-18.44 | GeneName:ETFRF1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000205707; TranscriptID:ENST00000381356; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0434; mirSVR-E:-18.44 | GeneName:KRAS; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000133703; TranscriptID:ENST00000256078; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0434; mirSVR-E:-18.44 | NCRV0000003707 24586186 NONHSAT015897.2 rs17455577 C N/A 835 european ancestry individuals; 601 brazilian individuals EFO_0005116 N/A Associate Urinary metabolites (h-nmr features) rs17455577-C of NONHSAT015897.2 is significantly associated with the urinary metabolites (h-nmr features) by using GWAS analysis in 835 european ancestry individuals; 601 brazilian individuals(p-value = 3E-22 ;OR = 0.45). 0.4 Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links. genome-wide association analysis NONHSAT015897.2 lncRNA Urinary metabolite measurement 0.33 ATGACAAATA(C > T)CATTTCAAAT chr10: 98406240 0.7746,0.2254 0.75567023445463812,0.24432976554536187 Region score:0.31; TSS score:0.23; Unmatched score:0.25; Average GERP:0.16945049504950493 GeneName:PYROXD2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000119943; TranscriptID:ENST00000370575; AnnoType:INTRONIC; mirSVR-Score:-0.9697; mirSVR-E:-8.99 | NCRV0000003708 22864933 NONHSAT149946.1 rs576523 ? N/A up to 84 east asian ancestry lymphoblastoid cell lines//up to 164 european ancestry lymphoblastoid cell lines//up to 173 african ancestry lymphoblastoid cell lines//up to 82 african american lymphoblastoid cell lines GO_0097327 N/A Associate Capecitabine sensitivity rs576523-? of NONHSAT149946.1 is significantly associated with the capecitabine sensitivity by using GWAS analysis in up to 84 east asian ancestry lymphoblastoid cell lines//up to 164 european ancestry lymphoblastoid cell lines//up to 173 african ancestry lymphoblastoid cell lines//up to 82 african american lymphoblastoid cell lines(p-value = 2E-7 ;OR = ?). 0.4 Identification of novel germline polymorphisms governing capecitabine sensitivity. genome-wide association analysis NONHSAT149946.1 lncRNA Response to antineoplastic agent 0.33 GGAAAGCTCA(G > A)TTTCAAATGT chr1: 160776286 0.08307,0.9169 0.08354039245667686,0.91645960754332313 Region score:0.45; TSS score:0.44; Unmatched score:0.26; Average GERP:-0.21671584158415852 GeneName:AL121985.2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000274562; TranscriptID:ENST00000621192; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AL121985.3; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000275801; TranscriptID:ENST00000620690; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000374905; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003709 27992413 NONHSAT067101.2 rs681343 T N/A 2,871 european ancestry cases//12,019 european ancestry controls; 1,925 european ancestry cases//7,936 european ancestry controls EFO_0004268 N/A Associate Primary sclerosing cholangitis rs681343-T of NONHSAT067101.2 is significantly associated with the primary sclerosing cholangitis by using GWAS analysis in 2,871 european ancestry cases//12,019 european ancestry controls; 1,925 european ancestry cases//7,936 european ancestry controls(p-value = 3E-6 ;OR = 1.11). 0.4 Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease. genome-wide association analysis NONHSAT067101.2 lncRNA Sclerosing cholangitis 0.33 CCACACTGTA(C > A,T)GCCCTGGCCA chr19: 48703205 0.6783,.,0.3217 0.56128950050968399,0.00000796381243628,0.43870253567787971 Region score:0.19; TSS score:0.28; Unmatched score:0.41; Average GERP:1.4441435643564355 GeneName:FUT2; CADD-Score:5; Consquence:synonymous; GeneID:ENSG00000176920; TranscriptID:ENST00000425340; AnnoType:SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:FUT2; CADD-Score:8; Consquence:stop_gained; GeneID:ENSG00000176920; TranscriptID:ENST00000425340; AnnoType:STOP_GAINED; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003710 26634245 NONHSAT047577.2 rs16969968 ? N/A 6,659 european ancestry current and former smoker individuals EFO_0003892 N/A Associate Pre bronchodilator fev1/fvc ratio rs16969968-? of NONHSAT047577.2 is significantly associated with the pre bronchodilator fev1/fvc ratio by using GWAS analysis in 6,659 european ancestry current and former smoker individuals(p-value = 2E-10 ;OR = 0.01709). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT047577.2 lncRNA Pulmonary function measurement 0.451 AGCTGCGCTC(G > A)ATTCTATTCG chr15: 78590583 0.8504,0.1496 0.77428166411824668,0.22571833588175331 Region score:0.38; TSS score:0.25; Unmatched score:0.5; Average GERP:-0.27124950495049427 GeneName:AC027228.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000261762; TranscriptID:ENST00000567141; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CHRNA3; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000080644; TranscriptID:ENST00000326828; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CHRNA5; CADD-Score:7; Consquence:missense; GeneID:ENSG00000169684; TranscriptID:ENST00000299565; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003710 26634245 NONHSAT047577.2 rs16969968 A N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs16969968-A of NONHSAT047577.2 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 6E-15 ;OR = 0.078). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT047577.2 lncRNA Pulmonary function measurement 0.451 AGCTGCGCTC(G > A)ATTCTATTCG chr15: 78590583 0.8504,0.1496 0.77428166411824668,0.22571833588175331 Region score:0.38; TSS score:0.25; Unmatched score:0.5; Average GERP:-0.27124950495049427 GeneName:AC027228.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000261762; TranscriptID:ENST00000567141; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CHRNA3; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000080644; TranscriptID:ENST00000326828; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CHRNA5; CADD-Score:7; Consquence:missense; GeneID:ENSG00000169684; TranscriptID:ENST00000299565; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003711 28240269 NONHSAT150262.1 rs7529589 T N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0008269 N/A Associate Blood protein levels rs7529589-T of NONHSAT150262.1 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 2E-22 ;OR = 0.4252). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. genome-wide association analysis NONHSAT150262.1 lncRNA Properdin measurement 0.33 ATATATTAAA(T > A,C)AGGTCTGTGC chr1: 196689149 0.2869,.,0.7131 0.35310747961264016,0.00355982415902140,0.64333269622833843 Region score:0.25; TSS score:0.17; Unmatched score:0.2; Average GERP:-1.636442574257426 GeneName:CFH; CADD-Score:2; Consquence:intron; GeneID:ENSG00000000971; TranscriptID:ENST00000367429; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003712 22379998 NONHSAT037946.2 rs183266 ? N/A 34 european ancestry lamotrigine-induced hypersensitivity cases//42 european ancestry phenytoin-induced hypersensitivity cases//1,296 european ancestry controls GO_0036277 N/A Associate Adverse response to lamotrigine and phenytoin rs183266-? of NONHSAT037946.2 is significantly associated with the adverse response to lamotrigine and phenytoin by using GWAS analysis in 34 european ancestry lamotrigine-induced hypersensitivity cases//42 european ancestry phenytoin-induced hypersensitivity cases//1,296 european ancestry controls(p-value = 5E-6 ;OR = ?). 0.4 Genome-wide mapping for clinically relevant predictors of lamotrigine- and phenytoin-induced hypersensitivity reactions. genome-wide association analysis NONHSAT037946.2 lncRNA Response to anticonvulsant 0.33 CCTATCCAAC(C > A)CTCCCCAGAG chr14: 77031632 0.1542,0.8458 0.12989774464831804,0.87010225535168195 Region score:0.35; TSS score:0.44; Unmatched score:0.46; Average GERP:-0.07604356435643563 GeneName:AC007686.3; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000273729; TranscriptID:ENST00000619017; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:IRF2BPL; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000119669; TranscriptID:ENST00000238647; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003713 21998595 NONHSAT183548.1 rs2553026 A N/A 20,427 african ancestry individuals; up to 16,436 african american individuals EFO_0004339 N/A Associate Height rs2553026-A of NONHSAT183548.1 is significantly associated with the height by using GWAS analysis in 20,427 african ancestry individuals; up to 16,436 african american individuals(p-value = 6E-8 ;OR = 0.056). 0.4 Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry. genome-wide association analysis NONHSAT183548.1 lncRNA Body height 0.33 CTACATAAAA(G > A,C)AGAGTGGAGA chr2: 217258925 0.608,0.392,. 0.49166188837920489,0.50817883537206931,0.00015927624872579 Region score:0.28; TSS score:0.2; Unmatched score:0.13; Average GERP:0.10296138613861383 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000636677; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003714 27863252 NONHSAT197521.1 rs4328821 G N/A 171,771 european ancestry individuals EFO_0009389 N/A Associate Sum eosinophil basophil counts rs4328821-G of NONHSAT197521.1 is significantly associated with the sum eosinophil basophil counts by using GWAS analysis in 171,771 european ancestry individuals(p-value = 5E-138 ;OR = 0.1436063). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT197521.1 lncRNA Sum of eosinophil and basophil counts 0.33 CGTGCACCCA(A > G)TTTTAGAGAT chr3: 128597592 0.8073,0.1927 0.85647617227319062,0.14352382772680937 Region score:0.21; TSS score:0.16; Unmatched score:0.03; Average GERP:0.03414851485148518 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003715 28404885 H19 rs2839698 A Dominant 33,209 participants EFO_1000218 N/A increasing risk Digestive System Carcinoma rs2839698-A of H19 and its dysfunction is significantly associated with the increasing risk of Digestive system carcinoma by using meta-analysis in 33,209 participants 0.4 Significant association between lncRNA H19 polymorphisms and cancer susceptibility: a meta-analysis. meta-analysis H19 lncRNA Digestive system carcinoma 0.33 ATGCCTGGGC(G > A)CCTACTCCAC chr11: 1997623 0.7071,0.2929 1 Region score:0.36; TSS score:0.46; Unmatched score:0.85; Average GERP:-0.6805287128712875 GeneName:H19; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000130600; TranscriptID:ENST00000414790; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LINC01219; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000232987; TranscriptID:ENST00000418612; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR675; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284010; TranscriptID:ENST00000390168; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000035875; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01972; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000275266; TranscriptID:ENST00000617997; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01973; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000274866; TranscriptID:ENST00000620857; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003716 28540026 NONHSAT108925.2 rs9274390 T N/A up to 6,197 european ancestry asd cases//up to 7,377 european ancestry controls//up to 1,190 asd cases//up to 1,190 controls EFO_0003756 N/A Associate Autism spectrum disorder rs9274390-T of NONHSAT108925.2 is significantly associated with the autism spectrum disorder by using GWAS analysis in up to 6,197 european ancestry asd cases//up to 7,377 european ancestry controls//up to 1,190 asd cases//up to 1,190 controls(p-value = 2E-14 ;OR = 1.13). 0.4 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. genome-wide association analysis NONHSAT108925.2 lncRNA Autism spectrum disorder 0.33 CCCTCCAGGA(C > G,T)TTCCTTCTGG chr6: 32664882 0.7997,.,0.2003 0.92344387104994903,0.00148923292558613,0.07506689602446483 Region score:0.3; TSS score:0.5; Unmatched score:0.7; Average GERP:1.023122772277228 GeneName:HLA-DQB1-AS1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000223534; TranscriptID:ENST00000419852; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HLA-DQB1; CADD-Score:7; Consquence:missense; GeneID:ENSG00000179344; TranscriptID:ENST00000374943; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000195701; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003717 24390342 NONHSAT169776.1 rs2582532 C N/A up to 14,361 european ancestry cases//up to 42,923 european ancestry controls//up to 4,873 east asian ancestry cases//up to 17,642 east asian ancestry controls; up to 3,775 european ancestry cases//up to 5,801 european ancestry controls//up to 6,871 east asian ancestry cases//up to 6,392 east asian ancestry controls EFO_0000685 N/A Associate Rheumatoid arthritis rs2582532-C of NONHSAT169776.1 is significantly associated with the rheumatoid arthritis by using GWAS analysis in up to 14,361 european ancestry cases//up to 42,923 european ancestry controls//up to 4,873 east asian ancestry cases//up to 17,642 east asian ancestry controls; up to 3,775 european ancestry cases//up to 5,801 european ancestry controls//up to 6,871 east asian ancestry cases//up to 6,392 east asian ancestry controls(p-value = 5E-8 ;OR = 1.18). 0.4 Genetics of rheumatoid arthritis contributes to biology and drug discovery. genome-wide association analysis NONHSAT169776.1 lncRNA Rheumatoid arthritis 0.33 CAACCCCCTC(T > C)GCCAGCAGTA chr14: 104926500 0.1546,0.8454 0.08389876401630988,0.91610123598369011 Region score:0.26; TSS score:0.57; Unmatched score:0.74; Average GERP:-1.5789415841584151 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000508954; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000508956; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PLD4; CADD-Score:2; Consquence:intron; GeneID:ENSG00000166428; TranscriptID:ENST00000540372; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003718 20881960 NONHSAT053365.2 rs1043515 A N/A 133,653 european ancestry individuals; 50,074 european ancestry individuals EFO_0004339 N/A Associate Height rs1043515-A of NONHSAT053365.2 is significantly associated with the height by using GWAS analysis in 133,653 european ancestry individuals; 50,074 european ancestry individuals(p-value = 3E-10 ;OR = 0.023). 0.4 Hundreds of variants clustered in genomic loci and biological pathways affect human height. genome-wide association analysis NONHSAT053365.2 lncRNA Body height 0.33 TTTAATTTCA(A > G)TGATCTGACC chr17: 38765943 0.6444,0.3556 0.55362831294597349,0.44637168705402650 Region score:0.46; TSS score:0.63; Unmatched score:0.7; Average GERP:0.6762405940594063 GeneName:PIP4K2B; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000276293; TranscriptID:ENST00000619039; AnnoType:3PRIME_UTR; mirSVR-Score:-0.7500; mirSVR-E:-11.03 | GeneName:PSMB3; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000277791; TranscriptID:ENST00000619426; AnnoType:DOWNSTREAM; mirSVR-Score:-0.7500; mirSVR-E:-11.03 | NCRV0000003719 27126917 NONHSAT172183.1 rs17571096 T N/A 874 european ancestry individuals EFO_0007828 N/A Associate Daytime sleep phenotypes rs17571096-T of NONHSAT172183.1 is significantly associated with the daytime sleep phenotypes by using GWAS analysis in 874 european ancestry individuals(p-value = 1E-6 ;OR = 2.16). 0.4 Genome-wide association analysis of actigraphic sleep phenotypes in the LIFE Adult Study. genome-wide association analysis NONHSAT172183.1 lncRNA Daytime rest measurement 0.33 AATTATGGCC(A > T)CTGCTGTATT chr15: 46294707 0.9856,0.01438 0.97533607288481141,0.02466392711518858 Region score:0.43; TSS score:0.39; Unmatched score:0.04; Average GERP:-0.5838037623762377 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003720 23568457 NONHSAT064100.2 rs12986207 G N/A 151 european ancestry female cases//2,291 european ancestry female controls EFO_0005204 N/A Associate Bulimia nervosa rs12986207-G of NONHSAT064100.2 is significantly associated with the bulimia nervosa by using GWAS analysis in 151 european ancestry female cases//2,291 european ancestry female controls(p-value = 4E-6 ;OR = 0.044). 0.4 Genetic variants associated with disordered eating. genome-wide association analysis NONHSAT064100.2 lncRNA Bulimia nervosa 0.33 GTCTCGTTAC(G > A,C)TTACCTAGGC chr19: 29412770 0.8588,0.1412,. 0.84961932976554536,0.15038067023445463,. Region score:0.32; TSS score:0.18; Unmatched score:0.22; Average GERP:0.039732673267326726 GeneName:AC011474.1; CADD-Score:5; Consquence:splice,intron,non_coding; GeneID:ENSG00000264515; TranscriptID:ENST00000582581; AnnoType:SPLICE_SITE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003721 28181414 miR-146a rs6864584 C N/A 176 AR patients and 206 healthy Chinese children as controls EFO_0005854 N/A no significance for risk allergic rhinitis rs6864584-C of hsa-mir-146a and its dysfunction is not significantly associated with Allergic rhinitis by using case-control analysis in 176 AR patients and 206 healthy Chinese children as controls -0.4 A functional variant of miRNA-149 confers risk for allergic rhinitis and comorbid asthma in Chinese children. case-control analysis hsa-mir-146a miRNA Allergic rhinitis -0.33 TGCAAGAGGG(T > C)CCCCGACCCG chr5: 160467978 0.9169,0.08307 0.93502325433231396,0.06497674566768603 Region score:0.4; TSS score:0.72; Unmatched score:0.94; Average GERP:-0.8406801980198021 GeneName:MIR3142HG; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775866; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003722 20152958 NONHSAT078997.2 rs1209523 ? N/A 2,029 african american individuals//7,428 european ancestry individuals; 1,571 african american individuals//3,825 european ancestry individuals EFO_0001360 N/A Associate Fasting plasma glucose rs1209523-? of NONHSAT078997.2 is significantly associated with the fasting plasma glucose by using GWAS analysis in 2,029 african american individuals//7,428 european ancestry individuals; 1,571 african american individuals//3,825 european ancestry individuals(p-value = 2E-11 ;OR = ?). 0.4 A weighted false discovery rate control procedure reveals alleles at FOXA2 that influence fasting glucose levels. genome-wide association analysis NONHSAT078997.2 lncRNA Type ii diabetes mellitus 0.33 TTCTAAAGGG(C > T)TATCCAGAGT chr20: 22587304 0.8051,0.1949 0.84523923292558613,0.15476076707441386 Region score:0.39; TSS score:0.57; Unmatched score:0.88; Average GERP:0.3570287128712871 GeneName:AL121722.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000283932; TranscriptID:ENST00000638550; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:FOXA2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000125798; TranscriptID:ENST00000419308; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LNCNEF; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000237396; TranscriptID:ENST00000422494; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000297734; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003723 27863252 NONHSAT207279.1 rs16895831 T N/A 172,378 european ancestry individuals EFO_0007991 N/A Associate Eosinophil percentage of white cells rs16895831-T of NONHSAT207279.1 is significantly associated with the eosinophil percentage of white cells by using GWAS analysis in 172,378 european ancestry individuals(p-value = 3E-12 ;OR = 0.0312655). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT207279.1 lncRNA Eosinophil percentage of leukocytes 0.33 TGGCTGCCGG(C > T)TGTGGATTCC chr6: 42548053 0.8033,0.1967 0.79576803007135575,0.20423196992864424 Region score:0.39; TSS score:0.39; Unmatched score:0.52; Average GERP:0.009751485148514826 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000790835; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003724 29064472 NONHSAT192949.1 rs61743746 T N/A 114 african ancestry schizophrenia cases//69 african schizo-affective cases//41 african ancestry bipolar disorder cases//76 african ancestry controls//116 european ancestry schizophrenia cases//86 european ancestry schizo-affective cases//165 european ancestry bipolar disorder cases//182 european ancestry controls EFO_0008434 N/A Associate Initial pursuit acceleration rs61743746-T of NONHSAT192949.1 is significantly associated with the initial pursuit acceleration by using GWAS analysis in 114 african ancestry schizophrenia cases//69 african schizo-affective cases//41 african ancestry bipolar disorder cases//76 african ancestry controls//116 european ancestry schizophrenia cases//86 european ancestry schizo-affective cases//165 european ancestry bipolar disorder cases//182 european ancestry controls(p-value = 8E-10 ;OR = ?). 0.4 Genome-wide association studies of smooth pursuit and antisaccade eye movements in psychotic disorders: findings from the B-SNIP study. genome-wide association analysis NONHSAT192949.1 lncRNA Initial pursuit acceleration 0.33 CCTCAGAAGA(C > T)GAAGCAGCGC chr22: 42619781 0.9904,0.009585 0.99183709225280326,0.00816290774719673 Region score:0.37; TSS score:0.49; Unmatched score:0.68; Average GERP:0.5842821782178216 GeneName:CYB5R3; CADD-Score:7; Consquence:missense; GeneID:ENSG00000100243; TranscriptID:ENST00000361740; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:POLDIP3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000100227; TranscriptID:ENST00000451060; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RNU12; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000276027; TranscriptID:ENST00000362512; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:Z93241.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000270022; TranscriptID:ENST00000602478; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003725 22705344 NONHSAT150262.1 rs1061170 ? N/A 819 european ancestry geographic atrophy cases//4,134 european ancestry controls EFO_0001365 N/A Associate Age-related macular degeneration (cnv) rs1061170-? of NONHSAT150262.1 is significantly associated with the age-related macular degeneration (cnv) by using GWAS analysis in 819 european ancestry geographic atrophy cases//4,134 european ancestry controls(p-value = 1E-108 ;OR = 2.78). 0.4 Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes. genome-wide association analysis NONHSAT150262.1 lncRNA Age-related macular degeneration 0.52 TAATCAAAAT(C > T)ATGGAAGAAA chr1: 196690107 0.2666,0.7334 0.34115379714576962,0.65884620285423037 Region score:0.21; TSS score:0.32; Unmatched score:0.41; Average GERP:-2.2438514851485145 GeneName:CFH; CADD-Score:7; Consquence:missense; GeneID:ENSG00000000971; TranscriptID:ENST00000367429; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003725 21665990 NONHSAT150262.1 rs1061170 C N/A 2,594 european ancestry cases//4,134 european ancestry controls; 5,640 european ancestry cases//52,174 european ancestry controls EFO_0001365 N/A Associate Age-related macular degeneration rs1061170-C of NONHSAT150262.1 is significantly associated with the age-related macular degeneration by using GWAS analysis in 2,594 european ancestry cases//4,134 european ancestry controls; 5,640 european ancestry cases//52,174 european ancestry controls(p-value = 1E-261 ;OR = 2.41). 0.4 Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration. genome-wide association analysis NONHSAT150262.1 lncRNA Age-related macular degeneration 0.52 TAATCAAAAT(C > T)ATGGAAGAAA chr1: 196690107 0.2666,0.7334 0.34115379714576962,0.65884620285423037 Region score:0.21; TSS score:0.32; Unmatched score:0.41; Average GERP:-2.2438514851485145 GeneName:CFH; CADD-Score:7; Consquence:missense; GeneID:ENSG00000000971; TranscriptID:ENST00000367429; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003725 20385826 NONHSAT150262.1 rs1061170 ? N/A 979 cases//1,709 controls; 868 european ancestry cases//410 european ancestry controls//4,921 cases//3,824 controls EFO_0001365 N/A Associate Age-related macular degeneration rs1061170-? of NONHSAT150262.1 is significantly associated with the age-related macular degeneration by using GWAS analysis in 979 cases//1,709 controls; 868 european ancestry cases//410 european ancestry controls//4,921 cases//3,824 controls(p-value = 4E-117 ;OR = ?). 0.4 Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC). genome-wide association analysis NONHSAT150262.1 lncRNA Age-related macular degeneration 0.52 TAATCAAAAT(C > T)ATGGAAGAAA chr1: 196690107 0.2666,0.7334 0.34115379714576962,0.65884620285423037 Region score:0.21; TSS score:0.32; Unmatched score:0.41; Average GERP:-2.2438514851485145 GeneName:CFH; CADD-Score:7; Consquence:missense; GeneID:ENSG00000000971; TranscriptID:ENST00000367429; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003726 23342264 miR-142 rs867010562 A Dominant 56 DLBCL cases EFO_0000403 N/A increasing risk diffuse large B-cell lymphoma rs867010562-A of hsa-mir-142 and its dysfunction is significantly associated with the increasing risk of Diffuse large b-cell lymphoma by using analysis of sequence variation in 56 DLBCL cases 0.4 MicroRNA-142 is mutated in about 20% of diffuse large B-cell lymphoma. analysis of sequence variation hsa-mir-142 miRNA Diffuse large b-cell lymphoma 0.33 CTTTCTACTT(T > C)ATGGGTGACT chr17: 58331300 0 RS=867010562;RSPOS=58331300;dbSNPBuildID=147;SSR=0;SAO=0;VP=0x050000080005000002000100;GENEINFO=TSPOAP1-AS1:100506779|MIR142:406934;WGT=1;VC=SNV;INT;ASP - GeneName:AC004687.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000265206; TranscriptID:ENST00000579003; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR142; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000284353; TranscriptID:ENST00000384835; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR4736; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000264399; TranscriptID:ENST00000581591; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000096246; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TSPOAP1-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000265148; TranscriptID:ENST00000580515; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TSPOAP1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000005379; TranscriptID:ENST00000343736; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003727 24882193 NONHSAT211650.1 rs13233490 ? N/A 206 european ancestry cases with binge eating behavior//723 european ancestry cases without binge eating behavior//1,034 european ancestry controls; 70 european ancestry cases with binge eating behavior//758 european ancestry cases without binge eating behavior//832 european ancestry controls EFO_0005924 N/A Associate Binge eating behaviour and bipolar disorder rs13233490-? of NONHSAT211650.1 is significantly associated with the binge eating behaviour and bipolar disorder by using GWAS analysis in 206 european ancestry cases with binge eating behavior//723 european ancestry cases without binge eating behavior//1,034 european ancestry controls; 70 european ancestry cases with binge eating behavior//758 european ancestry cases without binge eating behavior//832 european ancestry controls(p-value = 4E-6 ;OR = 4.89). 0.4 Bipolar disorder with comorbid binge eating history: a genome-wide association study implicates APOB. genome-wide association analysis NONHSAT211650.1 lncRNA Binge eating 0.33 TCCAGTGGTA(G > C)TTTTTTACCT chr7: 9030639 N/A 0.95927306320081549,0.04072693679918450 Region score:0.36; TSS score:0.13; Unmatched score:0.03; Average GERP:-1.2344089108910894 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003728 21302353 NONHSAT113702.2 rs3747767 A N/A 3,304 european ancestry individuals EFO_0004242 N/A Associate Hoarding rs3747767-A of NONHSAT113702.2 is significantly associated with the hoarding by using GWAS analysis in 3,304 european ancestry individuals(p-value = 7E-7 ;OR = 1.81). 0.4 Genome-wide association study of hoarding traits. genome-wide association analysis NONHSAT113702.2 lncRNA Obsessive-compulsive disorder 0.33 AAGCTGGATC(C > A)ATTCCCTCTC chr6: 79547564 0.7941,0.2059 0.89473432721712538,0.10526567278287461 Region score:0.3; TSS score:0.18; Unmatched score:0.05; Average GERP:-0.8276153465346537 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003729 27863252 NONHSAT168300.1 rs34332679 GA N/A 171,771 european ancestry individuals EFO_0009389 N/A Associate Sum eosinophil basophil counts rs34332679-GA of NONHSAT168300.1 is significantly associated with the sum eosinophil basophil counts by using GWAS analysis in 171,771 european ancestry individuals(p-value = 1E-12 ;OR = 0.02673784). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT168300.1 lncRNA Sum of eosinophil and basophil counts 0.33 GCCATGAGCA(G > GA,GAA)AAAAAAAGGG chr14: 35412760 0.3157,0.6843,. 0.36300649847094801,0.63698553771661569,0.00000796381243628 N/A GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003730 27989323 NONHSAT186428.1 rs192586223 C N/A 3,421 finnish ancestry individuals EFO_0005140 N/A Associate Rantes levels rs192586223-C of NONHSAT186428.1 is significantly associated with the rantes levels by using GWAS analysis in 3,421 finnish ancestry individuals(p-value = 5E-6 ;OR = 0.6977). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. genome-wide association analysis NONHSAT186428.1 lncRNA Autoimmune disease 0.33 TACTACAGAG(C > T)GTCTTCCTCT chr2: 231938837 0.9998,0.0001997 0.99988054281345565,0.00011945718654434 Region score:0.36; TSS score:0.3; Unmatched score:0.09; Average GERP:-0.24560495049504966 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003731 28270201 NONHSAT143139.2 rs183208454 T N/A 19,223 british ancestry individuals from 6863 families. EFO_0000319 N/A Associate Hdl cholesterol rs183208454-T of NONHSAT143139.2 is significantly associated with the hdl cholesterol by using GWAS analysis in 19,223 british ancestry individuals from 6863 families.(p-value = 5E-9 ;OR = 1.3088803). 0.4 Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants. genome-wide association analysis NONHSAT143139.2 lncRNA Cardiovascular disease 0.33 GGACTCTGAG(C > T)CACATCAGTG chr16: 67542133 0.9998,0.0001997 0.99971330275229357,0.00028669724770642 Region score:0.59; TSS score:0.36; Unmatched score:0.63; Average GERP:2.7118772277227725 GeneName:AC027682.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000259945; TranscriptID:ENST00000563083; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC027682.3; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000260894; TranscriptID:ENST00000564717; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC027682.5; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000261396; TranscriptID:ENST00000567122; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RIPOR1; CADD-Score:5; Consquence:synonymous; GeneID:ENSG00000039523; TranscriptID:ENST00000422602; AnnoType:SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003732 27863252 NONHSAT155096.1 rs1912580 C N/A 172,275 european ancestry individuals EFO_0004842 N/A Associate Eosinophil counts rs1912580-C of NONHSAT155096.1 is significantly associated with the eosinophil counts by using GWAS analysis in 172,275 european ancestry individuals(p-value = 5E-15 ;OR = 0.0388432). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT155096.1 lncRNA Eosinophil count 0.33 ATTGTGCCTA(G > C)GGGAGTTATA chr10: 8995019 0.8536,0.1464 0.84365443425076452,0.15634556574923547 Region score:0.23; TSS score:0.14; Unmatched score:0.06; Average GERP:-0.8022855445544554 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003733 22004471 NONHSAT197005.1 rs9825310 ? N/A 1,333 european ancestry male cases//2,168 european ancestry male controls EFO_0003829 N/A Associate Alcohol dependence rs9825310-? of NONHSAT197005.1 is significantly associated with the alcohol dependence by using GWAS analysis in 1,333 european ancestry male cases//2,168 european ancestry male controls(p-value = 8E-6 ;OR = 1.25). 0.4 Genome-wide significant association between alcohol dependence and a variant in the ADH gene cluster. genome-wide association analysis NONHSAT197005.1 lncRNA Alcohol dependence 0.33 CTCTCGGATG(G > A)CAGAGCAGAA chr3: 32198627 0.6973,0.3027 0.62431511213047910,0.37568488786952089 Region score:0.25; TSS score:0.29; Unmatched score:0.1; Average GERP:-0.18910980198019797 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003734 27082954 NONHSAT182899.1 rs6748245 ? N/A 104 european ancestry cases//1,519 european ancestry controls//34 african american cases//520 african american controls EFO_0004265 traffic-related air pollution interaction Associate Peripheral arterial disease (traffic-related air pollution interaction) rs6748245-? of NONHSAT182899.1 is significantly associated with the peripheral arterial disease (traffic-related air pollution interaction) by using GWAS analysis in 104 european ancestry cases//1,519 european ancestry controls//34 african american cases//520 african american controls(p-value = 2E-6 ;OR = 51.1). 0.4 Genetic Variants in the Bone Morphogenic Protein Gene Family Modify the Association between Residential Exposure to Traffic and Peripheral Arterial Disease. genome-wide association analysis NONHSAT182899.1 lncRNA Peripheral arterial disease 0.33 TCAATGGTGT(G > T)GGGGGTCAGG chr2: 148525197 0.9778,0.02216 0.96174184505606523,0.03825815494393476 Region score:0.36; TSS score:0.11; Unmatched score:0.04; Average GERP:-0.07640297029702979 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003735 26634245 NONHSAT219613.1 rs184991195 T N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio rs184991195-T of NONHSAT219613.1 is significantly associated with the post bronchodilator fev1/fvc ratio by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 6E-7 ;OR = 0.08). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT219613.1 lncRNA Pulmonary function measurement 0.33 CATTTGCCAC(C > G,T)TTGCTAGTTG chr9: 73562263 0.9958,.,0.004193 0.99579510703363914,0.00000796381243628,0.00419692915392456 Region score:0.19; TSS score:0.15; Unmatched score:0.01; Average GERP:-0.49831554455445554 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003736 28621612 ANRIL rs1333048 ? N/A 125 prostate cancer patients and 220 normal age-matched subjects EFO_0001663 N/A increasing risk prostate carcinoma rs1333048-? of ANRIL and its dysfunction is significantly associated with the increasing risk of Prostate carcinoma by using case-control analysis in 125 prostate cancer patients and 220 normal age-matched subjects 0.4 Association of ANRIL gene polymorphisms with prostate cancer and benign prostatic hyperplasia in an Iranian population. case-control analysis ANRIL lncRNA Prostate carcinoma 0.33 GGAGATGTTT(A > C)AATGTCGAAT chr9: 22125348 0.5579,0.4421 0.55785709734964322,0.44214290265035677 Region score:0.23; TSS score:0.38; Unmatched score:0.26; Average GERP:-0.30606930693069295 GeneName:CDKN2B-AS1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000240498; TranscriptID:ENST00000428597; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000877606; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003737 27863252 NONHSAT180160.1 rs74956615 A N/A 164,339 european ancestry individuals EFO_0007985 N/A Associate Plateletcrit rs74956615-A of NONHSAT180160.1 is significantly associated with the plateletcrit by using GWAS analysis in 164,339 european ancestry individuals(p-value = 2E-15 ;OR = 0.06337232). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT180160.1 lncRNA Plateletcrit 0.33 AAGTCAGTTG(T > A,C)CAAAGTTAAA chr19: 10317045 0.986,0.01398,. 0.96749171763506625,0.03250031855249745,0.00000796381243628 Region score:0.6; TSS score:0.75; Unmatched score:0.91; Average GERP:1.754190999999999 GeneName:AC011511.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000167807; TranscriptID:ENST00000452032; AnnoType:UPSTREAM; mirSVR-Score:-0.6306; mirSVR-E:-15.67 | GeneName:AC011511.4; CADD-Score:2; Consquence:NMD,3_prime_UTR; GeneID:ENSG00000267303; TranscriptID:ENST00000586529; AnnoType:3PRIME_UTR; mirSVR-Score:-0.6306; mirSVR-E:-15.67 | GeneName:FDX2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000267673; TranscriptID:ENST00000393708; AnnoType:UPSTREAM; mirSVR-Score:-0.6306; mirSVR-E:-15.67 | GeneName:RAVER1; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000161847; TranscriptID:ENST00000293677; AnnoType:3PRIME_UTR; mirSVR-Score:-0.6306; mirSVR-E:-15.67 | NCRV0000003738 23400010 NONHSAT161977.1 rs7965364 T N/A 425 european ancestry cases//342 african american cases EFO_0000537 Thiazide-induced Associate Thiazide-induced adverse metabolic effects in hypertensive patients rs7965364-T of NONHSAT161977.1 is significantly associated with the thiazide-induced adverse metabolic effects in hypertensive patients by using GWAS analysis in 425 european ancestry cases//342 african american cases(p-value = 6E-6 ;OR = 3.79). 0.4 Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans. genome-wide association analysis NONHSAT161977.1 lncRNA Hypertension 0.33 ACAGCTCCTG(C > T)ATATCACATA chr12: 25331259 0.3702,0.6298 0.30921890927624872,0.69078109072375127 Region score:0.34; TSS score:0.31; Unmatched score:0.17; Average GERP:-0.1950831683168316 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003739 28067908 NONHSAT183947.1 rs76527535 C N/A 25,042 european and unknown ancestry cases//34,915 european and unknown ancestry controls EFO_0003767 N/A Associate Inflammatory bowel disease rs76527535-C of NONHSAT183947.1 is significantly associated with the inflammatory bowel disease by using GWAS analysis in 25,042 european and unknown ancestry cases//34,915 european and unknown ancestry controls(p-value = 3E-8 ;OR = 1.09). 0.4 Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease. genome-wide association analysis NONHSAT183947.1 lncRNA Inflammatory bowel disease 0.33 AGTCACCCCA(C > T)TCCCGCCCCT chr2: 241545286 N/A 0.79974197247706422,0.20025802752293577 Region score:0.43; TSS score:0.51; Unmatched score:0.55; Average GERP:-0.1794814851485148 GeneName:BOK-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000234235; TranscriptID:ENST00000434306; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003740 23527680 NONHSAT079376.2 rs6057659 A N/A 1,851 individuals; 155 individuals EFO_0003888 N/A Associate Attention deficit hyperactivity disorder (combined symptoms) rs6057659-A of NONHSAT079376.2 is significantly associated with the attention deficit hyperactivity disorder (combined symptoms) by using GWAS analysis in 1,851 individuals; 155 individuals(p-value = 5E-6 ;OR = ?). 0.4 Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits. genome-wide association analysis NONHSAT079376.2 lncRNA Attention deficit hyperactivity disorder 0.33 GTGAGGAAGC(G > A)CCTTCTCTAG chr20: 32857341 0.9746,0.02536 0.97885607798165137,0.02114392201834862 Region score:0.4; TSS score:0.33; Unmatched score:0.43; Average GERP:-1.3537591089108914 GeneName:AL035071.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000260257; TranscriptID:ENST00000569087; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AL035071.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000260536; TranscriptID:ENST00000565572; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:EFCAB8; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000215529; TranscriptID:ENST00000400522; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000649273; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003741 26152337 hsa-mir-548h-3 rs9913045 A N/a 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A Increasing risk Hepatocellular carcinoma rs9913045-A of hsa-mir-548h-3 and its dysfunction is significantly associated with the increasing risk of hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors. 0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. case-control analysis hsa-mir-548h-3 miRNA Hepatocellular cancer 0.33 GACAAAAACC(G > A)CGATTACTTT chr17: 13543607 0.5691,0.4309 0.55132677115188583,0.44867322884811416 Region score:0.24; TSS score:0.2; Unmatched score:0.55; Average GERP:0.060851485148514774 GeneName:HS3ST3A1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000153976; TranscriptID:ENST00000284110; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR548H3; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000221698; TranscriptID:ENST00000408771; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003742 27863252 NONHSAT183488.1 rs715 C N/A 170,536 european ancestry individuals EFO_0007996 N/A Associate Eosinophil percentage of granulocytes rs715-C of NONHSAT183488.1 is significantly associated with the eosinophil percentage of granulocytes by using GWAS analysis in 170,536 european ancestry individuals(p-value = 3E-9 ;OR = 0.0230721). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT183488.1 lncRNA Eosinophil percentage of granulocytes 0.33 TTCTGAACTC(T > C)TTCTATACTT chr2: 210678331 0.7638,0.2362 0.72770928899082568,0.27229071100917431 Region score:0.52; TSS score:0.86; Unmatched score:0.84; Average GERP:0.6805089108910892 GeneName:CPS1; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000021826; TranscriptID:ENST00000430249; AnnoType:3PRIME_UTR; mirSVR-Score:-1.1081; mirSVR-E:-13.72 | NCRV0000003743 20713499 NONHSAT192758.1 rs1001021 A N/A 402 european ancestry schizophrenia cases//1,021 european ancestry bipolar i cases//493 european ancestry bipolar ii cases//1,210 european ancestry mdd cases//1,060 european ancestry controls EFO_0000289 N/A Associate Schizophrenia//bipolar disorder and depression (combined) rs1001021-A of NONHSAT192758.1 is significantly associated with the schizophrenia//bipolar disorder and depression (combined) by using GWAS analysis in 402 european ancestry schizophrenia cases//1,021 european ancestry bipolar i cases//493 european ancestry bipolar ii cases//1,210 european ancestry mdd cases//1,060 european ancestry controls(p-value = 2E-6 ;OR = ?). 0.4 Cross-disorder genomewide analysis of schizophrenia, bipolar disorder, and depression. genome-wide association analysis NONHSAT192758.1 lncRNA Bipolar disorder 0.33 CTTTGAATAT(G > A)TTTATAGCTT chr22: 26007633 0.8992,0.1008 0.94104389653414882,0.05895610346585117 Region score:0.36; TSS score:0.22; Unmatched score:0.24; Average GERP:-0.4645297029702972 GeneName:MYO18B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000133454; TranscriptID:ENST00000407587; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:Z98949.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000232050; TranscriptID:ENST00000440996; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003744 28107422 NONHSAT119487.2 rs1029738 ? N/A 91,953 european ancestry individuals (imputed to hapmap); EFO_0004623 N/A Associate Fibrinogen levels rs1029738-? of NONHSAT119487.2 is significantly associated with the fibrinogen levels by using GWAS analysis in 91,953 european ancestry individuals (imputed to hapmap); (p-value = 3E-7 ;OR = 0.0057). 0.4 Comparison of HapMap and 1000 Genomes Reference Panels in a Large-Scale Genome-Wide Association Study. genome-wide association analysis NONHSAT119487.2 lncRNA Fibrinogen measurement 0.33 ACTCCAAAAT(C > A)TAACTTACAG chr7: 22834428 0.8191,0.1809 0.77103242864424057,0.22896757135575942 Region score:0.41; TSS score:0.39; Unmatched score:0.18; Average GERP:-0.4312425742574256 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000818916; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003745 27863252 NONHSAT081839.2 rs35542019 T N/A 173,039 european ancestry individuals EFO_0004348 N/A Associate Hematocrit rs35542019-T of NONHSAT081839.2 is significantly associated with the hematocrit by using GWAS analysis in 173,039 european ancestry individuals(p-value = 4E-16 ;OR = 0.02915033). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT081839.2 lncRNA Hematocrit 0.33 ATTGTGGCTT(TA > T)AAAAAAAAGT chr21: 33974554 0.4008,0.5992 0.42916985219164118,0.57083014780835881 N/A GeneName:LINC00649; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000237945; TranscriptID:ENST00000427447; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003746 29773352 ANRIL rs10757274 G N/A 200 atherothrombotic stroke cases and 205 controls EFO_1001976 N/A no significance for risk atherothrombotic stroke rs10757274-G of ANRIL and its dysfunction is not significantly associated with Cardioembolic stroke by using case-control analysis in 200 atherothrombotic stroke cases and 205 controls -0.4 The ANRIL Genetic Variants and Their Interactions with Environmental Risk Factors on Atherothrombotic Stroke in a Han Chinese Population. case-control analysis ANRIL lncRNA Cardioembolic stroke -0.33 CTGAGTGTTG(A > G)GACATAATTG chr9: 22096056 0.596,0.404 0.59115379714576962,0.40884620285423037 Region score:0.36; TSS score:0.17; Unmatched score:0.04; Average GERP:0.04806217821782176 GeneName:CDKN2B-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000240498; TranscriptID:ENST00000428597; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003747 25056061 NONHSAT202647.1 rs4391122 G N/A 32,405 european ancestry cases//42,221 european ancestry controls//1,235 european ancestry cases and 1,235 european ancestry controls from 1235 parent-offspring trios//1,836 east asian ancestry cases//3,383 east asian ancestry controls; 1,513 european ancestry cases//66,236 european ancestry controls EFO_0000692 N/A Associate Schizophrenia rs4391122-G of NONHSAT202647.1 is significantly associated with the schizophrenia by using GWAS analysis in 32,405 european ancestry cases//42,221 european ancestry controls//1,235 european ancestry cases and 1,235 european ancestry controls from 1235 parent-offspring trios//1,836 east asian ancestry cases//3,383 east asian ancestry controls; 1,513 european ancestry cases//66,236 european ancestry controls(p-value = 1E-14 ;OR = 1.0845987). 0.4 Biological insights from 108 schizophrenia-associated genetic loci. genome-wide association analysis NONHSAT202647.1 lncRNA Schizophrenia 0.52 CACTTCATCT(A > G)TACTGCCTTT chr5: 61302716 0.4509,0.5491 0.41027968909276248,0.58972031090723751 Region score:0.36; TSS score:0.54; Unmatched score:0.43; Average GERP:-0.49695841584158423 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003747 28540026 NONHSAT202647.1 rs4391122 ? N/A schizophrenia cases and controls (see ripke//2014)cases//up to 1,190 controls EFO_0000692 N/A Associate Schizophrenia rs4391122-? of NONHSAT202647.1 is significantly associated with the schizophrenia by using GWAS analysis in schizophrenia cases and controls (see ripke//2014)cases//up to 1,190 controls(p-value = 2E-9 ;OR = 1.0638298). 0.4 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. genome-wide association analysis NONHSAT202647.1 lncRNA Schizophrenia 0.52 CACTTCATCT(A > G)TACTGCCTTT chr5: 61302716 0.4509,0.5491 0.41027968909276248,0.58972031090723751 Region score:0.36; TSS score:0.54; Unmatched score:0.43; Average GERP:-0.49695841584158423 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003747 26198764 NONHSAT202647.1 rs4391122 G N/A 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls EFO_0000692 N/A Associate Schizophrenia rs4391122-G of NONHSAT202647.1 is significantly associated with the schizophrenia by using GWAS analysis in 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls(p-value = 2E-13 ;OR = 1.0869565). 0.4 Genome-wide association study of schizophrenia in Ashkenazi Jews. genome-wide association analysis NONHSAT202647.1 lncRNA Schizophrenia 0.52 CACTTCATCT(A > G)TACTGCCTTT chr5: 61302716 0.4509,0.5491 0.41027968909276248,0.58972031090723751 Region score:0.36; TSS score:0.54; Unmatched score:0.43; Average GERP:-0.49695841584158423 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003748 23259602 NONHSAT149446.1 rs1571500 ? N/A 1,483 european ancestry comparatively younger individuals//5,960 european ancestry comparatively older individuals EFO_0003819 N/A Associate Dental caries rs1571500-? of NONHSAT149446.1 is significantly associated with the dental caries by using GWAS analysis in 1,483 european ancestry comparatively younger individuals//5,960 european ancestry comparatively older individuals(p-value = 2E-6 ;OR = ?). 0.4 Genome-wide association scan of dental caries in the permanent dentition. genome-wide association analysis NONHSAT149446.1 lncRNA Dental caries 0.33 ACTGAAGTGT(T > C)TGCTTACTGA chr1: 98920737 0.8492,0.1508 0.89906664118246687,0.10093335881753312 Region score:0.4; TSS score:0.4; Unmatched score:0.37; Average GERP:-0.39796237623762387 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000366566; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PLPPR5; CADD-Score:2; Consquence:intron; GeneID:ENSG00000117598; TranscriptID:ENST00000263177; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003749 25378659 NONHSAT191649.1 rs2822687 T N/A 10,129 european ancestry individuals EFO_0006796 N/A Associate Very long-chain saturated fatty acid levels (fatty acid 20:0) rs2822687-T of NONHSAT191649.1 is significantly associated with the very long-chain saturated fatty acid levels (fatty acid 20:0) by using GWAS analysis in 10,129 european ancestry individuals(p-value = 7E-7 ;OR = 4.964). 0.4 Genetic loci associated with circulating levels of very long-chain saturated fatty acids. genome-wide association analysis NONHSAT191649.1 lncRNA Very long-chain saturated fatty acid measurement 0.33 TACATTTAGG(C > T)GGCCTTCCTG chr21: 14481114 0.6827,0.3173 0.73379364169215086,0.26620635830784913 Region score:0.35; TSS score:0.35; Unmatched score:0.19; Average GERP:-0.476021782178218 GeneName:SAMSN1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000155307; TranscriptID:ENST00000285670; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003750 27989323 NONHSAT195709.1 rs11720094 G N/A 8,293 finnish ancestry individuals EFO_0005140 N/A Associate Monocyte chemoattractant protein-1 levels rs11720094-G of NONHSAT195709.1 is significantly associated with the monocyte chemoattractant protein-1 levels by using GWAS analysis in 8,293 finnish ancestry individuals(p-value = 2E-11 ;OR = 0.1058). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. genome-wide association analysis NONHSAT195709.1 lncRNA Autoimmune disease 0.33 GAGTGCAGTC(G > A,C,T)CATGATCTCG chr3: 46518421 0.6208,.,0.3792,. 0.62952344546381243,0.00152108817533129,0.36893953873598369,0.00001592762487257 Region score:0.5; TSS score:0.65; Unmatched score:0.65; Average GERP:-0.19326732673267333 GeneName:LRRC2; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000163827; TranscriptID:ENST00000395905; AnnoType:3PRIME_UTR; mirSVR-Score:-0.0055; mirSVR-E:-26.00 | NCRV0000003751 26969751 NONHSAT220447.1 rs872256 ? N/A 5,008 european ancestry prepubescent females//5,082 european ancestry prepubescent males//4,238 european ancestry pubescent females//4,185 european ancestry pubescent males//2,680 european ancestry post-pubescent females//2,496 european ancestry post-pubescent males EFO_0000319 N/A Associate Systolic blood pressure rs872256-? of NONHSAT220447.1 is significantly associated with the systolic blood pressure by using GWAS analysis in 5,008 european ancestry prepubescent females//5,082 european ancestry prepubescent males//4,238 european ancestry pubescent females//4,185 european ancestry pubescent males//2,680 european ancestry post-pubescent females//2,496 european ancestry post-pubescent males(p-value = 9E-9 ;OR = 0.096). 0.4 International Genome-Wide Association Study Consortium Identifies Novel Loci Associated With Blood Pressure in Children and Adolescents. genome-wide association analysis NONHSAT220447.1 lncRNA Cardiovascular disease 0.33 CCTGTTTTGT(T > A)TTTCTTATAG chr9: 2496480 0.4277,0.5723 0.40513506625891946,0.59486493374108053 Region score:0.31; TSS score:0.14; Unmatched score:0.09; Average GERP:-1.0703415841584156 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000874036; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:VLDLR-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000236404; TranscriptID:ENST00000648733; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003752 29059683 NONHSAT192444.1 rs4820477 C N/A 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls EFO_0000305 N/A Associate Breast cancer rs4820477-C of NONHSAT192444.1 is significantly associated with the breast cancer by using GWAS analysis in 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls(p-value = 9E-7 ;OR = 0.0307). 0.4 Association analysis identifies 65 new breast cancer risk loci. genome-wide association analysis NONHSAT192444.1 lncRNA Breast cancer 0.33 GCGGTGGCCT(G > C)TGCCTGCTAC chr22: 42745087 0.4928,0.5072 0.55169310652395514,0.44830689347604485 Region score:0.17; TSS score:0.24; Unmatched score:0.1; Average GERP:0.10782178217821768 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000673153; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003753 22952603 NONHSAT177655.1 rs10502675 ? N/A 1 american indian ancestry individual//18 african american individuals//10 asian ancestry individuals//325 european ancestry individuals//17 hispanic individuals//10 individuals GO_0042493 N/A Associate Response to amphetamines rs10502675-? of NONHSAT177655.1 is significantly associated with the response to amphetamines by using GWAS analysis in 1 american indian ancestry individual//18 african american individuals//10 asian ancestry individuals//325 european ancestry individuals//17 hispanic individuals//10 individuals(p-value = 3E-6 ;OR = ?). 0.4 Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13). genome-wide association analysis NONHSAT177655.1 lncRNA Response to drug 0.33 TAAAATGGAA(C > T)GTATAGAAAA chr18: 37618333 0.741,0.259 0.71900484199796126,0.28099515800203873 Region score:0.41; TSS score:0.34; Unmatched score:0.08; Average GERP:-0.49139603960396044 GeneName:AC009899.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000285940; TranscriptID:ENST00000649194; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003754 29071344 NONHSAT156769.1 rs2886497 G N/A 3,041 african american individuals//1,618 european ancestry individuals; 1,612 african american individuals//1,551 european ancestry individuals EFO_0003829 N/A Associate Major depression and alcohol dependence rs2886497-G of NONHSAT156769.1 is significantly associated with the major depression and alcohol dependence by using GWAS analysis in 3,041 african american individuals//1,618 european ancestry individuals; 1,612 african american individuals//1,551 european ancestry individuals(p-value = 6E-6 ;OR = 0.44). 0.4 Genetic Risk Variants Associated With Comorbid Alcohol Dependence and Major Depression. genome-wide association analysis NONHSAT156769.1 lncRNA Alcohol dependence 0.33 CTCGCCACAT(G > C,T)TATCAGGCAG chr10: 23381413 0.641,.,0.359 0.66159371814475025,0.00010352956167176,0.33830275229357798 Region score:0.37; TSS score:0.26; Unmatched score:0.2; Average GERP:-0.4675980198019802 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000398468; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003755 26192919 NONHSAT191238.1 rs2823286 A N/A 5,956 european ancestry cases//14,927 european ancestry controls; 14,594 european ancestry cases//26,715 european ancestry controls//151 iranian ancestry cases//342 iranian ancestry controls//184 indian ancestry cases//990 indian ancestry controls//1,690 east asian ancestry cases//3,719 east asian ancestry controls EFO_0000384 N/A Associate Crohn's disease rs2823286-A of NONHSAT191238.1 is significantly associated with the crohn's disease by using GWAS analysis in 5,956 european ancestry cases//14,927 european ancestry controls; 14,594 european ancestry cases//26,715 european ancestry controls//151 iranian ancestry cases//342 iranian ancestry controls//184 indian ancestry cases//990 indian ancestry controls//1,690 east asian ancestry cases//3,719 east asian ancestry controls(p-value = 1E-24 ;OR = 1.1480856). 0.4 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. genome-wide association analysis NONHSAT191238.1 lncRNA Crohn's disease 0.451 GGAACTCCCT(G > A)AATACACCCA chr21: 15445619 0.7654,0.2346 0.71994457186544342,0.28005542813455657 Region score:0.51; TSS score:0.49; Unmatched score:0.29; Average GERP:0.7481130693069303 GeneName:AJ009632.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000229425; TranscriptID:ENST00000634642; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003755 28067908 NONHSAT191238.1 rs2823286 ? N/A 12,194 european and unknown ancestry cases//28,072 european and unknown ancestry controls EFO_0000384 N/A Associate Crohn's disease rs2823286-? of NONHSAT191238.1 is significantly associated with the crohn's disease by using GWAS analysis in 12,194 european and unknown ancestry cases//28,072 european and unknown ancestry controls(p-value = 6E-26 ;OR = ?). 0.4 Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease. genome-wide association analysis NONHSAT191238.1 lncRNA Crohn's disease 0.451 GGAACTCCCT(G > A)AATACACCCA chr21: 15445619 0.7654,0.2346 0.71994457186544342,0.28005542813455657 Region score:0.51; TSS score:0.49; Unmatched score:0.29; Average GERP:0.7481130693069303 GeneName:AJ009632.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000229425; TranscriptID:ENST00000634642; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003756 22982201 MIR-137 rs1625579 T recessive cases (n=399) and controls (n=171) EFO_0004247 N/A increasing risk mood disorder rs1625579-T of hsa-mir-137 and its dysfunction is significantly associated with the increasing risk of Mood disorder by using case-control analysis in cases (n=399) and controls (n=171) 0.4 Mood congruent psychotic symptoms and specific cognitive deficits in carriers of the novel schizophrenia risk variant at MIR-137. case-control analysis hsa-mir-137 miRNA Mood disorder 0.33 CTGAGTTGAT(G > T)TAATTGTGAT chr1: 98037378 0.2031,0.7969 0.20921731651376146,0.79078268348623853 Region score:0.29; TSS score:0.13; Unmatched score:0.07; Average GERP:0.06902574257425746 GeneName:MIR137HG; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000225206; TranscriptID:ENST00000634594; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003757 28928442 NONHSAT113049.2 rs142690722 ? N/A 4,138 european ancestry cases//85,089 european ancestry controls EFO_0007904 N/A Associate Myringotomy rs142690722-? of NONHSAT113049.2 is significantly associated with the myringotomy by using GWAS analysis in 4,138 european ancestry cases//85,089 european ancestry controls(p-value = 4E-6 ;OR = 0.3977). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. genome-wide association analysis NONHSAT113049.2 lncRNA Susceptibility to childhood ear infection measurement 0.33 GCTGTGGTTT(T > C)AGTGCAGTGA chr6: 48088660 0.9966,0.003395 0.98990188583078491,0.01009811416921508 Region score:0.4; TSS score:0.34; Unmatched score:0.15; Average GERP:-0.20462376237623775 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003758 27089181 NONHSAT171866.1 rs11073619 T N/A 180,281 korculan (founder/genetic isolate)//split (founder/genetic isolate)//vis (founder/genetic isolate)//erasmus rucphen (founder/genetic isolate) and other european ancestry individuals EFO_0007869 N/A Associate Positive affect rs11073619-T of NONHSAT171866.1 is significantly associated with the positive affect by using GWAS analysis in 180,281 korculan (founder/genetic isolate)//split (founder/genetic isolate)//vis (founder/genetic isolate)//erasmus rucphen (founder/genetic isolate) and other european ancestry individuals(p-value = 1E-6 ;OR = 0.0279). 0.4 Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses. genome-wide association analysis NONHSAT171866.1 lncRNA Wellbeing measurement 0.33 AAGACAAAGA(C > T)GCCCATCTGA chr15: 84645608 0.9185,0.08147 0.89599260958205912,0.10400739041794087 Region score:0.49; TSS score:0.66; Unmatched score:0.86; Average GERP:1.8118415841584161 GeneName:RF00017; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277578; TranscriptID:ENST00000613066; AnnoType:UPSTREAM; mirSVR-Score:-0.5655; mirSVR-E:-18.57 | GeneName:SCAND2P; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000176700; TranscriptID:ENST00000348993; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.5655; mirSVR-E:-18.57 | GeneName:WDR73; CADD-Score:7; Consquence:missense; GeneID:ENSG00000177082; TranscriptID:ENST00000434634; AnnoType:NON_SYNONYMOUS; mirSVR-Score:-0.5655; mirSVR-E:-18.57 | NCRV0000003759 25461247 NONHSAT056320.2 rs1663189 T N/A up to 737 european ancestry individuals//up to 545 black individuals//up to 314 hispanic individuals EFO_0000180 N/A Associate Response to efavirenz-containing treatment in hiv 1 infection (virologic failure) rs1663189-T of NONHSAT056320.2 is significantly associated with the response to efavirenz-containing treatment in hiv 1 infection (virologic failure) by using GWAS analysis in up to 737 european ancestry individuals//up to 545 black individuals//up to 314 hispanic individuals(p-value = 6E-6 ;OR = 1.79). 0.4 Genome-wide association study of virologic response with efavirenz-containing or abacavir-containing regimens in AIDS clinical trials group protocols. genome-wide association analysis NONHSAT056320.2 lncRNA Hiv-1 infection 0.33 CATTCATTCA(T > C)CCACCATACG chr17: 79915256 0.2444,0.7556 0.21280103211009174,0.78719896788990825 Region score:0.24; TSS score:0.35; Unmatched score:0.4; Average GERP:-0.5101586237623764 GeneName:LINC01978; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000262188; TranscriptID:ENST00000574526; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LINC01979; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000262585; TranscriptID:ENST00000576738; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000565956; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000565957; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003760 22778062 SNORD88A rs3810284 T N/a N/a function N/A Not significant changes in the structure Function rs3810284-T of SNORD88A and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD88A snoRNA Function -0.049 TCAGACCCCC(G > A,T)GGTGTCAAAG chr19: 50799459 0.9008,0.09924,. 0.89432020897043832,0.10567182721712538,0.00000796381243628 Region score:0.37; TSS score:0.28; Unmatched score:0.66; Average GERP:0.4831940594059409 GeneName:ACP4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000142513; TranscriptID:ENST00000270593; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:C19orf48; CADD-Score:2; Consquence:intron; GeneID:ENSG00000167747; TranscriptID:ENST00000391812; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORD88A; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000221241; TranscriptID:ENST00000408314; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORD88B; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000221381; TranscriptID:ENST00000408454; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORD88C; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000220988; TranscriptID:ENST00000408061; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003761 22778062 SNORD115-32 rs58296848 A N/A N/A function N/A not significant changes in the structure function rs58296848-A of SNORD115-32 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in nan -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD115-32 snoRNA function -0.049 GAGAGATGAT(G > A)ACTTAAAAAT chr15: 25229010 0.9938,0.00619 0.99299184505606523,0.00700815494393476 Region score:0.42; TSS score:0.05; Unmatched score:0.46; Average GERP:0.19852901980198018 GeneName:SNHG14; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000224078; TranscriptID:ENST00000453082; AnnoType:INTRONIC; mirSVR-Score:-0.0947; mirSVR-E:-8.21 | GeneName:SNORD115-30; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000200987; TranscriptID:ENST00000364117; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0947; mirSVR-E:-8.21 | GeneName:SNORD115-31; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000202188; TranscriptID:ENST00000365318; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0947; mirSVR-E:-8.21 | GeneName:SNORD115-32; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000200949; TranscriptID:ENST00000364079; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0947; mirSVR-E:-8.21 | GeneName:SNORD115-33; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000200593; TranscriptID:ENST00000363723; AnnoType:UPSTREAM; mirSVR-Score:-0.0947; mirSVR-E:-8.21 | GeneName:SNORD115-34; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000199311; TranscriptID:ENST00000362441; AnnoType:UPSTREAM; mirSVR-Score:-0.0947; mirSVR-E:-8.21 | NCRV0000003762 27863252 NONHSAT192221.1 rs5762813 T N/A 173,039 european ancestry individuals EFO_0004348 N/A Associate Hematocrit rs5762813-T of NONHSAT192221.1 is significantly associated with the hematocrit by using GWAS analysis in 173,039 european ancestry individuals(p-value = 1E-9 ;OR = 0.02777911). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT192221.1 lncRNA Hematocrit 0.33 TGGCTAATTT(C > T)TTTTGTTTGT chr22: 28807326 0.6581,0.3419 0.73393699031600407,0.26606300968399592 Region score:0.28; TSS score:0.1; Unmatched score:0.1; Average GERP:0.12216161616161605 GeneName:Z93930.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000226471; TranscriptID:ENST00000458080; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003763 18604267 NONHSAT061051.2 rs281437 ? N/A 4,570 european ancestry female individuals; 2,008 european ancestry female individuals HP_0001658 N/A Associate Soluble icam-1 rs281437-? of NONHSAT061051.2 is significantly associated with the soluble icam-1 by using GWAS analysis in 4,570 european ancestry female individuals; 2,008 european ancestry female individuals(p-value = 3E-10 ;OR = 10.1). 0.4 Novel association of ABO histo-blood group antigen with soluble ICAM-1: results of a genome-wide association study of 6,578 women. genome-wide association analysis NONHSAT061051.2 lncRNA Myocardial infarction 0.33 GACGGGGTCT(C > T)GCAACATTGC chr19: 10286562 0.7352,0.2648 0.71180555555555555,0.28819444444444444 Region score:0.45; TSS score:0.58; Unmatched score:0.86; Average GERP:0.08699500000000011 GeneName:AC011511.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000266978; TranscriptID:ENST00000592893; AnnoType:UPSTREAM; mirSVR-Score:-0.4871; mirSVR-E:-31.52 | GeneName:AC011511.5; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000267607; TranscriptID:ENST00000589379; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.4871; mirSVR-E:-31.52 | GeneName:ICAM1; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000090339; TranscriptID:ENST00000264832; AnnoType:3PRIME_UTR; mirSVR-Score:-0.4871; mirSVR-E:-31.52 | GeneName:ICAM4; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000105371; TranscriptID:ENST00000340992; AnnoType:UPSTREAM; mirSVR-Score:-0.4871; mirSVR-E:-31.52 | GeneName:ICAM5; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000105376; TranscriptID:ENST00000221980; AnnoType:UPSTREAM; mirSVR-Score:-0.4871; mirSVR-E:-31.52 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000584266; AnnoType:REGULATORY; mirSVR-Score:-0.4871; mirSVR-E:-31.52 | NCRV0000003764 17903294 NONHSAT151447.1 rs9253 ? N/A up to 1,062 european ancestry individuals EFO_0004305 N/A Associate Hemostatic factors and hematological phenotypes rs9253-? of NONHSAT151447.1 is significantly associated with the hemostatic factors and hematological phenotypes by using GWAS analysis in up to 1,062 european ancestry individuals(p-value = 4E-6 ;OR = ?). 0.4 Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study. genome-wide association analysis NONHSAT151447.1 lncRNA Erythrocyte count 0.33 AGGTGAATAC(C > G)AGCAAAGAGA chr1: 37493212 0.8684,0.1316 0.87664054536187563,0.12335945463812436 Region score:0.51; TSS score:0.86; Unmatched score:0.8; Average GERP:2.0088485148514854 GeneName:MEAF6; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000163875; TranscriptID:ENST00000373075; AnnoType:3PRIME_UTR; mirSVR-Score:-1.2380; mirSVR-E:-16.79 | NCRV0000003765 25064007 NONHSAT112964.2 rs927485 C N/A 1,112 japanese ancestry cases//6,810 japanese ancestry controls; 548 japanese ancestry cases//6,469 japanese ancestry controls EFO_0005895 N/A Associate Ossification of the posterior longitudinal ligament of the spine rs927485-C of NONHSAT112964.2 is significantly associated with the ossification of the posterior longitudinal ligament of the spine by using GWAS analysis in 1,112 japanese ancestry cases//6,810 japanese ancestry controls; 548 japanese ancestry cases//6,469 japanese ancestry controls(p-value = 9E-9 ;OR = 1.33). 0.4 A genome-wide association study identifies susceptibility loci for ossification of the posterior longitudinal ligament of the spine. genome-wide association analysis NONHSAT112964.2 lncRNA Ossification of the posterior longitudinal ligament of the spine 0.33 TCCAAGGCTT(G > A)TCACAGAAAG chr6: 44570402 0.391,0.609 0.41965309633027522,0.58034690366972477 Region score:0.46; TSS score:0.62; Unmatched score:0.38; Average GERP:1.9875742574257422 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003766 26192919 NONHSAT191834.1 rs2836878 A N/A 5,956 european ancestry cases//14,927 european ancestry controls; 14,594 european ancestry cases//26,715 european ancestry controls//151 iranian ancestry cases//342 iranian ancestry controls//184 indian ancestry cases//990 indian ancestry controls//1,690 east asian ancestry cases//3,719 east asian ancestry controls EFO_0000384 N/A Associate Crohn's disease rs2836878-A of NONHSAT191834.1 is significantly associated with the crohn's disease by using GWAS analysis in 5,956 european ancestry cases//14,927 european ancestry controls; 14,594 european ancestry cases//26,715 european ancestry controls//151 iranian ancestry cases//342 iranian ancestry controls//184 indian ancestry cases//990 indian ancestry controls//1,690 east asian ancestry cases//3,719 east asian ancestry controls(p-value = 5E-15 ;OR = 1.114705). 0.4 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. genome-wide association analysis NONHSAT191834.1 lncRNA Crohn's disease 0.451 AGTTAAGAAC(G > A)GCTCATCCAG chr21: 39093608 0.7907,0.2093 0.77355695718654434,0.22644304281345565 Region score:0.28; TSS score:0.39; Unmatched score:0.14; Average GERP:-0.7416544554455443 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003766 28067908 NONHSAT191834.1 rs2836878 ? N/A 12,194 european and unknown ancestry cases//28,072 european and unknown ancestry controls EFO_0000384 N/A Associate Crohn's disease rs2836878-? of NONHSAT191834.1 is significantly associated with the crohn's disease by using GWAS analysis in 12,194 european and unknown ancestry cases//28,072 european and unknown ancestry controls(p-value = 4E-7 ;OR = ?). 0.4 Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease. genome-wide association analysis NONHSAT191834.1 lncRNA Crohn's disease 0.451 AGTTAAGAAC(G > A)GCTCATCCAG chr21: 39093608 0.7907,0.2093 0.77355695718654434,0.22644304281345565 Region score:0.28; TSS score:0.39; Unmatched score:0.14; Average GERP:-0.7416544554455443 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003767 26830138 NONHSAT190824.1 rs2409317 T N/A 2,478 european ancestry cases//979 ancestry controls both from the same 1,070 families EFO_0000249 N/A Associate Alzheimer disease and age of onset rs2409317-T of NONHSAT190824.1 is significantly associated with the alzheimer disease and age of onset by using GWAS analysis in 2,478 european ancestry cases//979 ancestry controls both from the same 1,070 families(p-value = 4E-7 ;OR = 5.088). 0.4 Family-based association analyses of imputed genotypes reveal genome-wide significant association of Alzheimer's disease with OSBPL6, PTPRG, and PDCL3. genome-wide association analysis NONHSAT190824.1 lncRNA Alzheimers disease 0.33 ATTTAATAAA(C > T)GGTTCTGGGA chr21: 28702102 0.02776,0.9722 0.02526121304791029,0.97473878695208970 Region score:0.4; TSS score:0.1; Unmatched score:0.03; Average GERP:0.15137623762376218 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003768 27863252 NONHSAT056011.2 rs549579958 C N/A 171,643 european ancestry individuals EFO_0004587 N/A Associate Lymphocyte counts rs549579958-C of NONHSAT056011.2 is significantly associated with the lymphocyte counts by using GWAS analysis in 171,643 european ancestry individuals(p-value = 5E-14 ;OR = 0.2219553). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT056011.2 lncRNA Lymphocyte count 0.33 CACCTTCCTG(CG > C)GTCTGGCAGC chr17: 76387026 0.997,0.002995 0.99809664882772680,0.00190335117227319 N/A GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000564715; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PRPSAP1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000161542; TranscriptID:ENST00000423915; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SPHK1; CADD-Score:7; Consquence:frameshift; GeneID:ENSG00000176170; TranscriptID:ENST00000323374; AnnoType:FRAME_SHIFT; mirSVR-Score:NA; mirSVR-E:NA | GeneName:UBE2O; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000175931; TranscriptID:ENST00000319380; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003769 28991256 NONHSAT006300.2 rs12129037 T N/A 7,699 chinese ancestry cases//35,476 european ancestry cases//18,327 chinese ancestry controls//46,839 european ancestry controls; 4,384 chinese ancestry cases//5,770 chinese ancestry controls EFO_0000692 N/A Associate Schizophrenia rs12129037-T of NONHSAT006300.2 is significantly associated with the schizophrenia by using GWAS analysis in 7,699 chinese ancestry cases//35,476 european ancestry cases//18,327 chinese ancestry controls//46,839 european ancestry controls; 4,384 chinese ancestry cases//5,770 chinese ancestry controls(p-value = 5E-9 ;OR = 1.096). 0.4 Genome-wide association analysis identifies 30 new susceptibility loci for schizophrenia. genome-wide association analysis NONHSAT006300.2 lncRNA Schizophrenia 0.33 GGATGGATCA(T > C,G)AAGGTCAGGA chr1: 150519638 0.8882,0.1118,. 0.87178261977573904,0.12816163353720693,0.00005574668705402 Region score:0.29; TSS score:0.16; Unmatched score:0.1; Average GERP:0 GeneName:FALEC; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000228126; TranscriptID:ENST00000416894; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003770 28199695 NONHSAT189946.1 rs60922440 T N/A 16,576 european ancestry individuals EFO_0008380 N/A Associate Perceived unattractiveness to mosquitoes rs60922440-T of NONHSAT189946.1 is significantly associated with the perceived unattractiveness to mosquitoes by using GWAS analysis in 16,576 european ancestry individuals(p-value = 9E-6 ;OR = 0.120169). 0.4 GWAS of self-reported mosquito bite size, itch intensity and attractiveness to mosquitoes implicates immune-related predisposition loci. genome-wide association analysis NONHSAT189946.1 lncRNA Perceived unattractiveness to mosquitos measurement 0.33 TCACGTTCAC(T > C)AGGGATCGCG chr20: 62373697 0.7742,0.2258 0.81184696738022426,0.18815303261977573 Region score:0.24; TSS score:0.22; Unmatched score:0.2; Average GERP:0 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003771 24954895 NONHSAT029820.2 rs4842666 T N/A 55,796 european ancestry individuals; 43,445 european ancestry individuals//1,849 chinese ancestry individuals//2,502 malay ancestry individuals//2,476 asian indian ancestry individuals//1,855 asian ancestry individuals EFO_0006340 N/A Associate Blood pressure rs4842666-T of NONHSAT029820.2 is significantly associated with the blood pressure by using GWAS analysis in 55,796 european ancestry individuals; 43,445 european ancestry individuals//1,849 chinese ancestry individuals//2,502 malay ancestry individuals//2,476 asian indian ancestry individuals//1,855 asian ancestry individuals(p-value = 4E-8 ;OR = 0.71). 0.4 Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia. genome-wide association analysis NONHSAT029820.2 lncRNA Mean arterial pressure 0.33 TTACTGAAAC(T > C)ATTGAAATCT chr12: 89547772 0.7738,0.2262 0.83214672528032619,0.16785327471967380 Region score:0.29; TSS score:0.26; Unmatched score:0.1; Average GERP:0.07637623762376243 GeneName:AC025034.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000279939; TranscriptID:ENST00000623264; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:POC1B-AS1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000270344; TranscriptID:ENST00000605233; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003772 28334899 NONHSAT194391.1 rs3762637 T N/A 32,285 east asian ancestry individuals//173,082 european ancestry individuals; 8,478 chinese ancestry individuals EFO_0000319 N/A Associate Ldl cholesterol levels rs3762637-T of NONHSAT194391.1 is significantly associated with the ldl cholesterol levels by using GWAS analysis in 32,285 east asian ancestry individuals//173,082 european ancestry individuals; 8,478 chinese ancestry individuals(p-value = 3E-8 ;OR = 0.0234). 0.4 Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels. genome-wide association analysis NONHSAT194391.1 lncRNA Cardiovascular disease 0.33 AAAAAGCCAC(C > T)AGGTAATCCA chr3: 122426477 0.8407,0.1593 0.85157046381243628,0.14842953618756371 Region score:0.6; TSS score:0.71; Unmatched score:0.81; Average GERP:4.4579009900990085 GeneName:AC083798.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000272758; TranscriptID:ENST00000608756; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.3455; mirSVR-E:-14.91 | GeneName:KPNA1; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000114030; TranscriptID:ENST00000344337; AnnoType:3PRIME_UTR; mirSVR-Score:-0.3455; mirSVR-E:-14.91 | NCRV0000003773 24306027 miR-16-1 chr13:50623115 G Dominant 98 chronic lymphocytic leukemia patients(CLL), Additionally, the primary regions of miR-29b-2/29c and miR-16-1 were analyzed in another cohort of 213 and 193 CLL patients EFO_0000095 N/A increasing risk chronic lymphocytic leukemia chr13:50623115-G of hsa-mir-16-1 and its dysfunction is significantly associated with the increasing risk of Chronic lymphocytic leukemia by using case-control analysis in 98 chronic lymphocytic leukemia patients(CLL), Additionally, the primary regions of miR-29b-2/29c and miR-16-1 were analyzed in another cohort of 213 and 193 CLL patients 0.4 Identification of novel sequence variations in microRNAs in chronic lymphocytic leukemia. case-control analysis hsa-mir-16-1 miRNA Chronic lymphocytic leukemia 0.33 TATGGTCAAC(C > G)TTACTTCAGC chr13:50623115 - - - GeneName:MIR16-1; CADD_Score:5; Consquence:noncoding_change; GeneID:ENSG00000208006; TranscriptID:ENST00000385271; AnnoType:NonCodingTranscript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:DLEU2; CADD_Score:2; Consquence:intronic; GeneID:ENSG00000231607; TranscriptID:ENST00000235290; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003774 22001757 NONHSAT059500.2 rs4503880 T N/A up to 52,350 european ancestry individuals//up to 8,739 indian asian ancestry individuals EFO_0001421 N/A Associate Liver enzyme levels (gamma-glutamyl transferase) rs4503880-T of NONHSAT059500.2 is significantly associated with the liver enzyme levels (gamma-glutamyl transferase) by using GWAS analysis in up to 52,350 european ancestry individuals//up to 8,739 indian asian ancestry individuals(p-value = 3E-12 ;OR = 3.6). 0.4 Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. genome-wide association analysis NONHSAT059500.2 lncRNA Liver disease 0.33 TCTGTAAATT(T > A,C)CAATCTTGTT chr18: 58416822 0.1743,.,0.8257 0.18251465341488277,0.00259620285423037,0.81488914373088685 Region score:0.43; TSS score:0.39; Unmatched score:0.37; Average GERP:-0.4411207920792079 GeneName:AC105105.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000267675; TranscriptID:ENST00000585470; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000103947; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003775 23303382 NONHSAT150705.1 rs3761944 C N/A 4,637 east asian ancestry individuals; 4,205 east asian ancestry individuals EFO_0005128 N/A Associate Hematology traits rs3761944-C of NONHSAT150705.1 is significantly associated with the hematology traits by using GWAS analysis in 4,637 east asian ancestry individuals; 4,205 east asian ancestry individuals(p-value = 8E-6 ;OR = 0.016). 0.4 Genome-wide association study of serum albumin:globulin ratio in Korean populations. genome-wide association analysis NONHSAT150705.1 lncRNA Albumin:globulin ratio measurement 0.33 TTTTCTATTA(G > C)TACAAGAGAG chr1: 230253243 0.4509,0.5491 0.50710372069317023,0.49289627930682976 Region score:0.19; TSS score:0.08; Unmatched score:0.07; Average GERP:-0.45684257425742564 GeneName:GALNT2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000143641; TranscriptID:ENST00000366672; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003776 23382691 NONHSAT199797.1 rs11942476 C N/A 2,247 european ancestry individuals EFO_0002690 N/A Associate Igg glycosylation rs11942476-C of NONHSAT199797.1 is significantly associated with the igg glycosylation by using GWAS analysis in 2,247 european ancestry individuals(p-value = 6E-6 ;OR = 0.2144). 0.4 Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. genome-wide association analysis NONHSAT199797.1 lncRNA Systemic lupus erythematosus 0.33 CTATGATTAT(C > G)CACATGACAC chr4: 21453634 0.9105,0.08946 0.88834734964322120,0.11165265035677879 Region score:0.32; TSS score:0.25; Unmatched score:0.09; Average GERP:-0.48155445544554465 GeneName:KCNIP4; CADD-Score:2; Consquence:intron; GeneID:ENSG00000185774; TranscriptID:ENST00000382152; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003777 26198764 NONHSAT191428.1 rs6517329 A N/A 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls EFO_0000692 N/A Associate Schizophrenia rs6517329-A of NONHSAT191428.1 is significantly associated with the schizophrenia by using GWAS analysis in 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls(p-value = 8E-6 ;OR = 1.05). 0.4 Genome-wide association study of schizophrenia in Ashkenazi Jews. genome-wide association analysis NONHSAT191428.1 lncRNA Schizophrenia 0.33 GAAAAGAATA(G > A)TAGCCCCAAT chr21: 36109179 0.5491,0.4509 0.55831103465851172,0.44168896534148827 Region score:0.21; TSS score:0.09; Unmatched score:0.19; Average GERP:0 GeneName:AP000688.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000230212; TranscriptID:ENST00000535199; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AP000688.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000233393; TranscriptID:ENST00000422473; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003778 24516586 NONHSAT095155.2 rs3733585 C N/A 259 asian ancestry cases and their unaffected parents// 272 european ancestry cases and their unaffected parents//19 cases and their unaffected parents HP_0000175 environmental tobacco smoke interaction Associate Cleft palate rs3733585-C of NONHSAT095155.2 is significantly associated with the cleft palate by using GWAS analysis in 259 asian ancestry cases and their unaffected parents// 272 european ancestry cases and their unaffected parents//19 cases and their unaffected parents(p-value = 2E-6 ;OR = 2.58). 0.4 Evidence of gene-environment interaction for two genes on chromosome 4 and environmental tobacco smoke in controlling the risk of nonsyndromic cleft palate. genome-wide association analysis NONHSAT095155.2 lncRNA Cleft palate 0.33 TGTTATGAGG(A > G)TTGAAACAGT chr4: 10034715 0.5938,0.4062 0.57323521916411824,0.42676478083588175 Region score:0.29; TSS score:0.33; Unmatched score:0.44; Average GERP:-0.48292485148514847 GeneName:SLC2A9; CADD-Score:2; Consquence:intron; GeneID:ENSG00000109667; TranscriptID:ENST00000309065; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003779 26752167 NONHSAT201987.1 rs11726022 G N/A 1,083 african american individuals; 1,427 african american individuals EFO_0000319 cigarette smoking interaction Associate Systolic blood pressure (cigarette smoking interaction) rs11726022-G of NONHSAT201987.1 is significantly associated with the systolic blood pressure (cigarette smoking interaction) by using GWAS analysis in 1,083 african american individuals; 1,427 african american individuals(p-value = 2E-6 ;OR = ?). 0.4 A Genome-wide study of blood pressure in African Americans accounting for gene-smoking interaction. genome-wide association analysis NONHSAT201987.1 lncRNA Cardiovascular disease 0.33 GTGCCGAACA(G > A)TGAGCAAAGC chr4: 187249313 0.6256,0.3744 0.56144877675840978,0.43855122324159021 Region score:0.37; TSS score:0.27; Unmatched score:0.07; Average GERP:-0.5777056435643562 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003780 19684603 NONHSAT164352.1 rs10849033 G N/A 317 european ancestry cases//17,958 european ancestry controls EFO_0000220 N/A Associate Acute lymphoblastic leukemia (childhood) rs10849033-G of NONHSAT164352.1 is significantly associated with the acute lymphoblastic leukemia (childhood) by using GWAS analysis in 317 european ancestry cases//17,958 european ancestry controls(p-value = 9E-6 ;OR = 2.55). 0.4 Germline genomic variants associated with childhood acute lymphoblastic leukemia. genome-wide association analysis NONHSAT164352.1 lncRNA Acute lymphoblastic leukemia 0.33 TTGTTACCTC(G > A)GCATAACGTG chr12: 4315956 0.2823,0.7177 0.19160932721712538,0.80839067278287461 Region score:0.29; TSS score:0.28; Unmatched score:0.08; Average GERP:0.024605940594059388 GeneName:AC008012.1; CADD-Score:2; Consquence:intron,NMD; GeneID:ENSG00000285901; TranscriptID:ENST00000648100; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TIGAR; CADD-Score:2; Consquence:intron; GeneID:ENSG00000078237; TranscriptID:ENST00000635110; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003781 22137330 NONHSAT182265.1 rs7565981 ? N/A 93 european ancestry cases//1,504 european ancestry controls; 42 european ancestry cases EFO_0004226 N/A Associate Creutzfeldt-jakob disease (variant) rs7565981-? of NONHSAT182265.1 is significantly associated with the creutzfeldt-jakob disease (variant) by using GWAS analysis in 93 european ancestry cases//1,504 european ancestry controls; 42 european ancestry cases(p-value = 4E-8 ;OR = 2.98). 0.4 Genome-wide study links MTMR7 gene to variant Creutzfeldt-Jakob risk. genome-wide association analysis NONHSAT182265.1 lncRNA Creutzfeldt jacob disease 0.33 CAGGACTTAA(G > A)GCCATGAGGC chr2: 100807869 0.7582,0.2418 0.83221043577981651,0.16778956422018348 Region score:0.34; TSS score:0.36; Unmatched score:0.14; Average GERP:-1.0235633663366335 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003782 27328823 mir-4751 rs8667 A N/A 17,008 AD cases and 37,154 controls EFO_0000249 N/A decreasing risk Alzheimer's disease rs8667-A of hsa-mir-4751 and its dysfunction is significantly associated with the decreasing risk of Alzheimers disease by using case-control analysis in 17,008 AD cases and 37,154 controls 0.4 Genome-wide identification of microRNA-related variants associated with risk of Alzheimer's disease. case-control analysis hsa-mir-4751 miRNA Alzheimers disease 0.33 TGTGGCTTCT(G > A)GGGGCTGGTC chr19: 49933114 0.7149,0.2851 0.70502835117227319,0.29497164882772680 Region score:0.33; TSS score:0.48; Unmatched score:0.75; Average GERP:-0.7590538613861386 GeneName:AC011452.1; CADD-Score:2; Consquence:intron,NMD; GeneID:ENSG00000269179; TranscriptID:ENST00000451973; AnnoType:INTRONIC; mirSVR-Score:-0.0555; mirSVR-E:-28.92 | GeneName:ATF5; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000169136; TranscriptID:ENST00000423777; AnnoType:3PRIME_UTR; mirSVR-Score:-0.0555; mirSVR-E:-28.92 | GeneName:IL4I1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000104951; TranscriptID:ENST00000595948; AnnoType:UPSTREAM; mirSVR-Score:-0.0555; mirSVR-E:-28.92 | GeneName:MIR4751; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000283842; TranscriptID:ENST00000578027; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0555; mirSVR-E:-28.92 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000592744; AnnoType:REGULATORY; mirSVR-Score:-0.0555; mirSVR-E:-28.92 | GeneName:NUP62; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000213024; TranscriptID:ENST00000596217; AnnoType:UPSTREAM; mirSVR-Score:-0.0555; mirSVR-E:-28.92 | NCRV0000003783 23563607 NONHSAT033771.2 rs9596219 T N/A 8,097 european ancestry tall individuals//8,099 european ancestry short individuals; 4,872 european ancestry tall individuals//4,831 european ancestry short individuals EFO_0004339 N/A Associate Height rs9596219-T of NONHSAT033771.2 is significantly associated with the height by using GWAS analysis in 8,097 european ancestry tall individuals//8,099 european ancestry short individuals; 4,872 european ancestry tall individuals//4,831 european ancestry short individuals(p-value = 1E-9 ;OR = 1.16). 0.4 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. genome-wide association analysis NONHSAT033771.2 lncRNA Body height 0.33 AGAAGAAAAG(C > A,T)CAGGAGTGAG chr13: 49989311 0.8389,.,0.1611 0.79796604230377166,0.00000796381243628,0.20202599388379204 Region score:0.35; TSS score:0.32; Unmatched score:0.1; Average GERP:-0.7604415841584158 GeneName:DLEU2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000231607; TranscriptID:ENST00000621282; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003784 22445761 NONHSAT169687.1 rs857228 T N/A 201 japanese ancestry individuals EFO_0004714 N/A Associate Sexual dysfunction (ssri/snri-related) rs857228-T of NONHSAT169687.1 is significantly associated with the sexual dysfunction (ssri/snri-related) by using GWAS analysis in 201 japanese ancestry individuals(p-value = 3E-6 ;OR = 2.56). 0.4 Genome-wide association study of SSRI/SNRI-induced sexual dysfunction in a Japanese cohort with major depression. genome-wide association analysis NONHSAT169687.1 lncRNA Sexual dysfunction 0.33 AGTATCTTTT(A > C,T)GGATTCTGCT chr14: 98203821 0.3708,0.6292,. 0.41198394495412844,0.58797623598369011,0.00003981906218144 Region score:0.09; TSS score:0.09; Unmatched score:0.11; Average GERP:-0.6022709999999999 GeneName:AL163932.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000259097; TranscriptID:ENST00000555776; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003785 26634245 NONHSAT157338.1 rs142973438 A N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio rs142973438-A of NONHSAT157338.1 is significantly associated with the post bronchodilator fev1/fvc ratio by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 3E-6 ;OR = 0.049). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT157338.1 lncRNA Pulmonary function measurement 0.33 ACAGAGTCTC(G > A,T)CTCTGTCGCC chr10: 93556242 0.994,0.00599,. 0.99163003312945973,0.00834607543323139,0.00002389143730886 Region score:0.31; TSS score:0.11; Unmatched score:0.01; Average GERP:0.07545833333333343 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000031782; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003786 26634245 NONHSAT198812.1 rs2869966 T N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs2869966-T of NONHSAT198812.1 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 1E-12 ;OR = 0.062). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT198812.1 lncRNA Pulmonary function measurement 0.33 TACAGACATA(C > T)ATTATACATA chr4: 88947927 0.52,0.48 0.52906791539245667,0.47093208460754332 Region score:0.36; TSS score:0.2; Unmatched score:0.04; Average GERP:-0.22514851485148518 GeneName:FAM13A; CADD-Score:2; Consquence:intron; GeneID:ENSG00000138640; TranscriptID:ENST00000264344; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003787 26152337 hsa-mir-1304 rs2155248 G N/a 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs2155248-G of hsa-mir-1304 and its dysfunction is not significantly associated with hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors. -0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. case-control analysis hsa-mir-1304 miRNA Hepatocellular cancer -0.33 AGGGGTTCGA(G > C,T)GCTACAGTGA chr11: 93733700 0.1208,.,0.8792 0.10477988022426095,0.00157683486238532,0.89364328491335372 Region score:0.24; TSS score:0.2; Unmatched score:0.51; Average GERP:-0.1899207920792078 GeneName:AP001273.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000279696; TranscriptID:ENST00000624493; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CEP295; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000166004; TranscriptID:ENST00000325212; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR1304; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000284458; TranscriptID:ENST00000408243; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORA18; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207145; TranscriptID:ENST00000384416; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORA1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000206834; TranscriptID:ENST00000384107; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORA25; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207112; TranscriptID:ENST00000384384; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORA32; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000206799; TranscriptID:ENST00000384072; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORA40; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000210825; TranscriptID:ENST00000388090; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORA8; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207304; TranscriptID:ENST00000384574; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORD5; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000239195; TranscriptID:ENST00000459342; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORD6; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000202314; TranscriptID:ENST00000365444; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TAF1D; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000166012; TranscriptID:ENST00000448108; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003788 27989323 NONHSAT061484.2 rs144075571 G N/A 3,421 finnish ancestry individuals EFO_0005140 N/A Associate Rantes levels rs144075571-G of NONHSAT061484.2 is significantly associated with the rantes levels by using GWAS analysis in 3,421 finnish ancestry individuals(p-value = 4E-6 ;OR = 0.3831). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. genome-wide association analysis NONHSAT061484.2 lncRNA Autoimmune disease 0.33 CCGCCTCTCC(G > C,T)GAGGGCCCAG chr19: 15379590 0.9966,0.003395,. 0.99610569571865443,0.00389430428134556,. Region score:0.34; TSS score:0.32; Unmatched score:0.96; Average GERP:-0.28173762376237604 GeneName:AC005785.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000268189; TranscriptID:ENST00000597549; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC005785.2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000279203; TranscriptID:ENST00000624655; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AKAP8; CADD-Score:2; Consquence:intron; GeneID:ENSG00000105127; TranscriptID:ENST00000269701; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AKAP8L; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000011243; TranscriptID:ENST00000397410; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000107643; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003789 29773352 ANRIL rs2383206 G N/a 200 atherothrombotic stroke cases and 205 controls EFO_1001976 N/A No significance for risk Atherothrombotic stroke rs2383206-G of ANRIL and its dysfunction is not significantly associated with atherothrombotic stroke by using case-control analysis in 200 atherothrombotic stroke cases and 205 controls. -0.4 The ANRIL Genetic Variants and Their Interactions with Environmental Risk Factors on Atherothrombotic Stroke in a Han Chinese Population. case-control analysis ANRIL lncRNA Cardioembolic stroke -0.33 TTATTGTAGT(A > G)TTTGCAAGAT chr9: 22115027 0.5124,0.4876 0.50659403669724770,0.49340596330275229 Region score:0.21; TSS score:0.24; Unmatched score:0.28; Average GERP:-0.349738613861386 GeneName:CDKN2B-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000240498; TranscriptID:ENST00000428597; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000877604; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01909; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277653; TranscriptID:ENST00000617921; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003790 25187983 miR-125a rs12975333 T N/a 1,098 individuals, includiing 491 patients were recruited from the souza ara篓虏jo outpatient unit, located at funda??o oswaldo cruz (fiocruz), rio de janeiro, brazil. the data for 607 controls was obtained from a bone marrow donors' bank in rio de janeiro comprising of samples from local healthy individuals. EFO_0001054 N/A No significance for risk Leprosy rs12975333-T of miR-125a and its dysfunction is not significantly associated with leprosy by using case-control analysis in 1,098 individuals, includiing 491 patients were recruited from the Souza Ara篓虏jo outpatient unit, located at Funda??o Oswaldo Cruz (FIOCRUZ), Rio de Janeiro, Brazil. The data for 607 controls was obtained from a bone marrow donors' bank in Rio de Janeiro comprising of samples from local healthy individuals -0.4 Pre-miR-146a (rs2910164 G>C) single nucleotide polymorphism is genetically and functionally associated with leprosy. case-control analysis hsa-mir-125a miRNA Leprosy -0.33 AGGTCCCTGA(G > T)ACCCTTTAAC chr19: 51693275 N/A RS=12975333;RSPOS=51693275;dbSNPBuildID=121;SSR=0;SAO=0;VP=0x0500284e0005000502000100;GENEINFO=SPACA6:147650|MIR125A:406910|SPACA6P-AS:102238594|MIRLET7E:406887;WGT=1;VC=SNV;PM;PMC;U5;INT;R3;R5;ASP;HD;GNO Region score:0.78; TSS score:0.84; Unmatched score:0.91; Average GERP:1.0796881188118812 GeneName:MIR125A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000208008; TranscriptID:ENST00000385273; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR99B; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207550; TranscriptID:ENST00000384819; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIRLET7E; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000198972; TranscriptID:ENST00000362102; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SPACA6; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000182310; TranscriptID:ENST00000637797; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SPACA6P-AS; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000269959; TranscriptID:ENST00000602324; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003791 25673412 NONHSAT162935.1 rs1809889 T N/A up to 56,910 european ancestry men//up to 86,570 european ancestry women; up to 36,570 european ancestry men//30,172 european ancestry women//915 filipino ancestry men//735 filipino ancestry women//2,351 african american/afro-caribbean ancestry men//6,258 african american/afro-caribbean ancestry women//2,285 south asian ancestry men//506 south asian ancestry women//195 seychellois ancestry men//266 seychellois ancestry women EFO_0005093 adjusted for BMI Associate Hip circumference adjusted for bmi rs1809889-T of NONHSAT162935.1 is significantly associated with the hip circumference adjusted for bmi by using GWAS analysis in up to 56,910 european ancestry men//up to 86,570 european ancestry women; up to 36,570 european ancestry men//30,172 european ancestry women//915 filipino ancestry men//735 filipino ancestry women//2,351 african american/afro-caribbean ancestry men//6,258 african american/afro-caribbean ancestry women//2,285 south asian ancestry men//506 south asian ancestry women//195 seychellois ancestry men//266 seychellois ancestry women(p-value = 2E-8 ;OR = 0.023). 0.4 New genetic loci link adipose and insulin biology to body fat distribution. genome-wide association analysis NONHSAT162935.1 lncRNA Hip circumference 0.33 AGGGGATGTG(T > C)CACAAGAGTG chr12: 124316680 0.4579,0.5421 0.38767838939857288,0.61232161060142711 Region score:0.23; TSS score:0.4; Unmatched score:0.4; Average GERP:-0.5277514851485146 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000473003; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RFLNA; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000178882; TranscriptID:ENST00000389727; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003792 28892062 NONHSAT053287.2 rs11651052 G N/A up to 72,390 japanese ancestry women//up to 85,894 japanese ancestry men; up to 10,048 japanese ancestry women//up to 5,098 japanese ancestry men//up to 181,999 european ancestry women//up to 140,155 european ancestry controls EFO_0001073 N/A Associate Body mass index rs11651052-G of NONHSAT053287.2 is significantly associated with the body mass index by using GWAS analysis in up to 72,390 japanese ancestry women//up to 85,894 japanese ancestry men; up to 10,048 japanese ancestry women//up to 5,098 japanese ancestry men//up to 181,999 european ancestry women//up to 140,155 european ancestry controls(p-value = 1E-7 ;OR = 0.027). 0.4 Genome-wide association study identifies 112 new loci for body mass index in the Japanese population. genome-wide association analysis NONHSAT053287.2 lncRNA Obesity 0.33 CTAGAACTCC(G > A)GGAACTCCAA chr17: 37742390 0.4239,0.5761 0.49823999745158002,0.50176000254841997 Region score:0.38; TSS score:0.43; Unmatched score:0.72; Average GERP:-1.6867455445544552 GeneName:HNF1B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000275410; TranscriptID:ENST00000617811; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000093699; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003793 24529757 NONHSAT186256.1 rs4234080 ? N/A 250 han chinese ancestry cases//250 han chinese ancestry controls EFO_0001357 N/A Associate Amyotrophic lateral sclerosis (sporadic) rs4234080-? of NONHSAT186256.1 is significantly associated with the amyotrophic lateral sclerosis (sporadic) by using GWAS analysis in 250 han chinese ancestry cases//250 han chinese ancestry controls(p-value = 2E-7 ;OR = ?). 0.4 Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations. genome-wide association analysis NONHSAT186256.1 lncRNA Sporadic amyotrophic lateral sclerosis 0.33 GAGGGCCATT(C > A)CGCCTGCACC chr2: 207624377 0.7596,0.2404 0.75989105504587155,0.24010894495412844 Region score:0.59; TSS score:0.58; Unmatched score:0.94; Average GERP:0.4638693069306936 GeneName:METTL21A; CADD-Score:3; Consquence:5_prime_UTR; GeneID:ENSG00000144401; TranscriptID:ENST00000272839; AnnoType:5PRIME_UTR; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000129480; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003794 27182965 NONHSAT097116.2 rs13129838 ? N/A 106,086 european ancestry cases//85,757 european ancestry controls HP_0000545 N/A Associate Myopia rs13129838-? of NONHSAT097116.2 is significantly associated with the myopia by using GWAS analysis in 106,086 european ancestry cases//85,757 european ancestry controls(p-value = 3E-15 ;OR = 1.068). 0.4 Detection and interpretation of shared genetic influences on 42 human traits. genome-wide association analysis NONHSAT097116.2 lncRNA Myopia 0.33 TTAGAAGATA(T > C)ACCTAATGTA chr4: 79587634 0.4247,0.5753 0.34081135321100917,0.65918864678899082 Region score:0.38; TSS score:0.19; Unmatched score:0.17; Average GERP:-0.19997524752475238 GeneName:OR7E94P; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000249646; TranscriptID:ENST00000601375; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003795 27863252 NONHSAT053105.2 rs36064799 CA N/A 170,763 european ancestry individuals EFO_0007986 N/A Associate High light scatter reticulocyte count rs36064799-CA of NONHSAT053105.2 is significantly associated with the high light scatter reticulocyte count by using GWAS analysis in 170,763 european ancestry individuals(p-value = 1E-14 ;OR = 0.06594627). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT053105.2 lncRNA Reticulocyte count 0.33 CCAAAACTTA(C > CA)AAAAGCATGT chr17: 35553480 0.9327,0.06729 0.92669310652395514,0.07330689347604485 N/A GeneName:AC015911.6; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000267359; TranscriptID:ENST00000588445; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SLFN14; CADD-Score:2; Consquence:intron; GeneID:ENSG00000236320; TranscriptID:ENST00000415846; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003796 29304813 miR-27a rs895819 A Dominant 287 myocardial infarction cases and 646 control subjects EFO_0000612 N/A Decreasing risk Myocardial infarction rs895819-A of miR-27a and its dysfunction is significantly associated with the decreasing risk of myocardial infarction by using case-control analysis in 287 myocardial infarction cases and 646 control subjects. 0.4 The association between pre-miR-27a rs895819 polymorphism and myocardial infarction risk in a Chinese Han population. case-control analysis hsa-mir-27a miRNA Myocardial infarction 0.33 CACGACTTGG(T > C)GTGGACCCTG chr19: 13836478 0.6362,0.3638 0.63091711264016309,0.36908288735983690 Region score:0.57; TSS score:0.41; Unmatched score:0.75; Average GERP:2.158386138613861 GeneName:AC020916.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000267519; TranscriptID:ENST00000587762; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR23A; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207980; TranscriptID:ENST00000385245; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR24-2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284387; TranscriptID:ENST00000386972; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR27A; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207808; TranscriptID:ENST00000385073; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000107447; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ZSWIM4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000132003; TranscriptID:ENST00000254323; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003797 20601957 NONHSAT130433.2 rs10965235 C N/A 1,423 japanese ancestry cases//1,318 japanese ancestry controls; 484 japanese ancestry cases//3,974 japanese ancestry controls EFO_0001065 N/A Associate Endometriosis rs10965235-C of NONHSAT130433.2 is significantly associated with the endometriosis by using GWAS analysis in 1,423 japanese ancestry cases//1,318 japanese ancestry controls; 484 japanese ancestry cases//3,974 japanese ancestry controls(p-value = 6E-12 ;OR = 1.44). 0.4 A genome-wide association study identifies genetic variants in the CDKN2BAS locus associated with endometriosis in Japanese. genome-wide association analysis NONHSAT130433.2 lncRNA Endometriosis 0.33 AGCTGTAGAG(C > A)TATGTCAGAC chr9: 22115106 0.7987,0.2013 0.83470310907237512,0.16529689092762487 Region score:0.3; TSS score:0.24; Unmatched score:0.27; Average GERP:-0.2571782178217822 GeneName:CDKN2B-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000240498; TranscriptID:ENST00000428597; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000877604; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01909; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277653; TranscriptID:ENST00000617921; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003798 23342264 miR-142 rs756348475 T Dominant 56 DLBCL cases EFO_0000403 N/A increasing risk diffuse large B-cell lymphoma rs756348475-T of hsa-mir-142 and its dysfunction is significantly associated with the increasing risk of Diffuse large b-cell lymphoma by using analysis of sequence variation in 56 DLBCL cases 0.4 MicroRNA-142 is mutated in about 20% of diffuse large B-cell lymphoma. analysis of sequence variation hsa-mir-142 miRNA Diffuse large b-cell lymphoma 0.451 AAAGTAGGAA(A > G)CACTACACCC chr17: 58331260 0 RS=756348475;RSPOS=58331260;dbSNPBuildID=144;SSR=0;SAO=0;VP=0x050000080005000002000100;GENEINFO=TSPOAP1-AS1:100506779|MIR142:406934;WGT=1;VC=SNV;INT;ASP - GeneName:AC004687.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000265206; TranscriptID:ENST00000579003; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR142; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000284353; TranscriptID:ENST00000384835; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR4736; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000264399; TranscriptID:ENST00000581591; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000096246; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TSPOAP1-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000265148; TranscriptID:ENST00000580515; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TSPOAP1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000005379; TranscriptID:ENST00000343736; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003798 23342264 miR-142 rs756348475 G Dominant 56 DLBCL cases EFO_0000403 N/A increasing risk diffuse large B-cell lymphoma rs756348475-G of hsa-mir-142 and its dysfunction is significantly associated with the increasing risk of Diffuse large b-cell lymphoma by using analysis of sequence variation in 56 DLBCL cases 0.4 MicroRNA-142 is mutated in about 20% of diffuse large B-cell lymphoma. analysis of sequence variation hsa-mir-142 miRNA Diffuse large b-cell lymphoma 0.451 AAAGTAGGAA(A > G)CACTACACCC chr17: 58331260 0 RS=756348475;RSPOS=58331260;dbSNPBuildID=144;SSR=0;SAO=0;VP=0x050000080005000002000100;GENEINFO=TSPOAP1-AS1:100506779|MIR142:406934;WGT=1;VC=SNV;INT;ASP - GeneName:AC004687.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000265206; TranscriptID:ENST00000579003; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR142; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000284353; TranscriptID:ENST00000384835; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR4736; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000264399; TranscriptID:ENST00000581591; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000096246; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TSPOAP1-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000265148; TranscriptID:ENST00000580515; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TSPOAP1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000005379; TranscriptID:ENST00000343736; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003799 23873935 miR-149 rs71428439 G Dominant 289 mi and 296 controls EFO_0000612 N/A Increasing risk Myocardial infarction rs71428439-G of miR-149 and its dysfunction is significantly associated with the increasing risk of myocardial infarction by using case-control analysis in 289 MI and 296 controls. By using the disease cell lines or tissues, the interference and mutation of miR-149 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. Moreover, the ncRNA variation-disease association was validated by complex experiments. 1.4 A pre-microRNA-149 (miR-149) genetic variation affects miR-149 maturation and its ability to regulate the Puma protein in apoptosis. case-control analysis; Function; Mechanism hsa-mir-149 miRNA Myocardial infarction 0.753 GTGCTGGGGC(A > G)GCTGGAACAA chr2: 240456083 0.856,0.144 0.86584161569826707,0.13415838430173292 Region score:0.31; TSS score:0.43; Unmatched score:0.89; Average GERP:1.6272524752475235 GeneName:AC110619.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000218416; TranscriptID:ENST00000404891; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GPC1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000063660; TranscriptID:ENST00000264039; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR149; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207611; TranscriptID:ENST00000384879; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000133146; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003800 23064961 NONHSAT148276.1 rs3896439 ? N/A 920 european ancestry individuals EFO_0003819 N/A Associate Dental caries rs3896439-? of NONHSAT148276.1 is significantly associated with the dental caries by using GWAS analysis in 920 european ancestry individuals(p-value = 2E-8 ;OR = ?). 0.4 GWAS of dental caries patterns in the permanent dentition. genome-wide association analysis NONHSAT148276.1 lncRNA Dental caries 0.33 AGACCTTGGC(G > A)TTGGTGGGGA chr1: 4608610 0.8399,0.1601 0.89761722731906218,0.10238277268093781 Region score:0.29; TSS score:0.21; Unmatched score:0.06; Average GERP:-0.009757425742574183 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003801 28300201 NONHSAT046777.2 rs61310892 A N/A 285 puerto rican individuals; 373 african american individuals EFO_0003784 N/A Associate Skin pigmentation rs61310892-A of NONHSAT046777.2 is significantly associated with the skin pigmentation by using GWAS analysis in 285 puerto rican individuals; 373 african american individuals(p-value = 5E-6 ;OR = 10.02). 0.4 Identification of a novel locus associated with skin colour in African-admixed populations. genome-wide association analysis NONHSAT046777.2 lncRNA Skin pigmentation 0.33 ACTGTGCACC(G > A,T)TAACATTTGC chr15: 66027468 0.9764,0.02356,. 0.97869680173292558,0.02129523445463812,0.00000796381243628 Region score:0.4; TSS score:0.57; Unmatched score:0.26; Average GERP:-1.009715841584159 GeneName:MEGF11; CADD-Score:2; Consquence:intron; GeneID:ENSG00000157890; TranscriptID:ENST00000409699; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000518919; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003802 28107422 NONHSAT185210.1 rs1558643 ? N/A 91,953 european ancestry individuals (imputed to hapmap); EFO_0004623 N/A Associate Fibrinogen levels rs1558643-? of NONHSAT185210.1 is significantly associated with the fibrinogen levels by using GWAS analysis in 91,953 european ancestry individuals (imputed to hapmap); (p-value = 6E-10 ;OR = 0.0066). 0.4 Comparison of HapMap and 1000 Genomes Reference Panels in a Large-Scale Genome-Wide Association Study. genome-wide association analysis NONHSAT185210.1 lncRNA Fibrinogen measurement 0.451 AGTAGACAGT(T > C,G)GCCGAGTCAG chr2: 102115231 0.4395,0.5605,. 0.38024815239551478,0.61971202854230377,0.00003981906218144 Region score:0.42; TSS score:0.45; Unmatched score:0.27; Average GERP:0.08817524752475255 GeneName:IL1R1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000115594; TranscriptID:ENST00000409929; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003802 26561523 NONHSAT185210.1 rs1558643 T N/A 120,246 european ancestry individuals EFO_0004623 N/A Associate Fibrinogen levels rs1558643-T of NONHSAT185210.1 is significantly associated with the fibrinogen levels by using GWAS analysis in 120,246 european ancestry individuals(p-value = 3E-10 ;OR = 0.0058). 0.4 A meta-analysis of 120 246 individuals identifies 18 new loci for fibrinogen concentration. genome-wide association analysis NONHSAT185210.1 lncRNA Fibrinogen measurement 0.451 AGTAGACAGT(T > C,G)GCCGAGTCAG chr2: 102115231 0.4395,0.5605,. 0.38024815239551478,0.61971202854230377,0.00003981906218144 Region score:0.42; TSS score:0.45; Unmatched score:0.27; Average GERP:0.08817524752475255 GeneName:IL1R1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000115594; TranscriptID:ENST00000409929; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003803 24324551 NONHSAT164086.1 rs78852656 ? N/A 580 brazilian ancestry individuals EFO_0005529 N/A Associate Pr interval in tripanosoma cruzi seropositivity rs78852656-? of NONHSAT164086.1 is significantly associated with the pr interval in tripanosoma cruzi seropositivity by using GWAS analysis in 580 brazilian ancestry individuals(p-value = 4E-8 ;OR = ?). 0.4 Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects. genome-wide association analysis NONHSAT164086.1 lncRNA Chagas cardiomyopathy 0.33 GTAAAATGGG(G > A)TCATTGGGAG chr12: 119182192 0.9744,0.02556 0.97225407747196738,0.02774592252803261 Region score:0.32; TSS score:0.28; Unmatched score:0.64; Average GERP:-0.745890099009901 GeneName:AC084880.3; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000256609; TranscriptID:ENST00000535921; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HSPB8; CADD-Score:2; Consquence:intron; GeneID:ENSG00000152137; TranscriptID:ENST00000281938; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000058206; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003804 21241442 miRNA-196a2 rs11614913 C N/A 126 CRC patients and 407 healthy controls EFO_0005842 N/A no significance for risk colorectal cancer rs11614913-C of hsa-mir-196a-2 and its dysfunction is not significantly associated with Colorectal cancer by using case-control analysis in 126 CRC patients and 407 healthy controls -0.4 A variant in microRNA-196a2 is not associated with susceptibility to and progression of colorectal cancer in Chinese. case-control analysis hsa-mir-196a-2 miRNA Colorectal cancer 0.165 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003804 27342110 miR-196a2 rs11614913 T dominant 229 cancer patients (including 17 types of cancer), 26 patients with pre-cancer lesions, and 100 unrelated controls. EFO_0005842 N/A increasing risk colorectal cancer rs11614913-T of hsa-mir-196a-2 and its dysfunction is significantly associated with the increasing risk of Colorectal cancer by using case-control analysis in 229 cancer patients (including 17 types of cancer), 26 patients with pre-cancer lesions, and 100 unrelated controls. 0.4 MicroRNA-196a2 Biomarker and Targetome Network Analysis in Solid Tumors. case-control analysis hsa-mir-196a-2 miRNA Colorectal cancer 0.165 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003804 21565628 miRNA-196a2 rs11614913 C N/a 252 crc patients and 543 healthy controls EFO_0005842 N/A Increasing risk Colorectal cancer rs11614913 -C of miRNA-196a2 and its dysfunction is significantly associated with the increasing risk of colorectal cancer by using case-control analysis in 252 CRC patients and 543 healthy controls. 0.4 A functional variant in microRNA-196a2 is associated with susceptibility of colorectal cancer in a Chinese population. case-control analysis hsa-mir-196a-2 miRNA Colorectal cancer 0.165 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003804 29715515 mir-196a2 rs11614913 C N/a 152 colorectal cancer cases and 161 controls EFO_0005842 N/A No significance for risk Colorectal cancer rs11614913-C of mir-196a2 and its dysfunction is not significantly associated with Colorectal cancer by using case-control analysis in 152 Colorectal cancer cases and 161 controls. -0.4 Contribution of microRNA-149, microRNA-146a, and microRNA-196a2 SNPs in colorectal cancer risk and clinicopathological features in Tunisia. case-control analysis hsa-mir-196a-2 miRNA Colorectal cancer 0.165 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003804 22952151 miR-196a2 rs11614913 T Dominant 3 studies involving 26,018 subjects EFO_0005842 N/A Decreasing risk Colorectal cancer rs11614913-T of miR-196a2 and its dysfunction is significantly associated with the decreasing risk of colorectal cancer by using meta-analysis in 3 studies involving 26,018 subjects. 0.4 The association of miR-146a rs2910164 and miR-196a2 rs11614913 polymorphisms with cancer risk: a meta-analysis of 32 studies. meta-analysis hsa-mir-196a-2 miRNA Colorectal cancer 0.165 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003804 22719192 miR-196a2 rs11614913 T N/a 197 cases of sporadic crc and 212 cancer-free controls in the central-european caucasian population EFO_0005842 N/A No significance for risk Colorectal cancer rs11614913-T of miR-196a2 and its dysfunction is not significantly associated with colorectal cancer by using case-control analysis in 197 cases of sporadic CRC and 212 cancer-free controls in the Central-European Caucasian population. -0.4 Evaluation of SNPs in miR-196-a2, miR-27a and miR-146a as risk factors of colorectal cancer. case-control analysis hsa-mir-196a-2 miRNA Colorectal cancer 0.165 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003804 25213291 miR-196a2 rs11614913 C N/A 2,209 cancers and 2,803 controls EFO_0005842 N/A increasing risk colorectal cancer rs11614913-C of hsa-mir-196a-2 and its dysfunction is significantly associated with the increasing risk of Colorectal cancer by using meta-analysis in 2,209 cancers and 2,803 controls 0.4 Genetic polymorphisms in miRNAs and susceptibility to colorectal cancer. meta-analysis hsa-mir-196a-2 miRNA Colorectal cancer 0.165 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003804 26208586 mir-196a2 rs11614913 C Dominant Several case-control studies EFO_0005842 N/A Increasing risk Colorectal cancer rs11614913-C of mir-196a2 and its dysfunction is significantly associated with the increasing risk of colorectal cancer by using meta-analysis in several case-control studies. 0.4 Associations of Polymorphisms in mir-196a2, mir-146a and mir-149 with Colorectal Cancer Risk: A Meta-Analysis. meta-analysis hsa-mir-196a-2 miRNA Colorectal cancer 0.165 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003805 26113018 miRNA133-A2 rs45547937 GG N/A blood sample from 205 patients EFO_0009167 N/A higher warfarin dose warfarin dosing variability rs45547937-GG of hsa-mir-133a-2 and its dysfunction is significantly associated with the Response to warfarin by using analysis of sequence variation in blood sample from 205 patients 0.4 Could MicroRNA polymorphisms influence warfarin dosing? A pharmacogenetics study on mir133 genes. analysis of sequence variation hsa-mir-133a-2 miRNA Response to warfarin 0.33 GGGGCCCTCC(G > A)GGAGTTGGGG chr20: 62564810 0.757,0.243 0.74053102701325178,0.25946897298674821 Region score:0.29; TSS score:0.28; Unmatched score:0.39; Average GERP:-1.5923821782178218 GeneName:MIR1-1HG; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000174407; TranscriptID:ENST00000624914; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR133A2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284508; TranscriptID:ENST00000347538; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000657286; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003806 17903297 NONHSAT159938.1 rs1031381 ? N/A 694 european ancestry individuals EFO_0003926 N/A Associate Cognitive test performance rs1031381-? of NONHSAT159938.1 is significantly associated with the cognitive test performance by using GWAS analysis in 694 european ancestry individuals(p-value = 6E-6 ;OR = ?). 0.4 Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham Study. genome-wide association analysis NONHSAT159938.1 lncRNA Neuropsychological test 0.33 TTGTAACTCC(G > A)GATCATGCCA chr11: 134218788 0.5952,0.4048 0.63795712283384301,0.36204287716615698 Region score:0.27; TSS score:0.11; Unmatched score:0.13; Average GERP:-0.5608971287128713 GeneName:NCAPD3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000151503; TranscriptID:ENST00000534548; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003807 27863252 NONHSAT205599.1 rs6880621 A N/A 172,952 european ancestry individuals EFO_0004305 N/A Associate Red blood cell count rs6880621-A of NONHSAT205599.1 is significantly associated with the red blood cell count by using GWAS analysis in 172,952 european ancestry individuals(p-value = 4E-9 ;OR = 0.02133613). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT205599.1 lncRNA Erythrocyte count 0.33 TGTTGATTAT(G > A)TGTCTATACC chr5: 34504277 0.4179,0.5821 0.43112098623853211,0.56887901376146788 Region score:0.18; TSS score:0.31; Unmatched score:0.19; Average GERP:-0.5553930693069309 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000179318; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003808 27863252 NONHSAT073752.2 rs7560180 T N/A 172,925 european ancestry individuals EFO_0004509 N/A Associate Hemoglobin concentration rs7560180-T of NONHSAT073752.2 is significantly associated with the hemoglobin concentration by using GWAS analysis in 172,925 european ancestry individuals(p-value = 1E-17 ;OR = 0.03704176). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT073752.2 lncRNA Hemoglobin measurement 0.33 TGCCCGGCTA(A > C,T)TTTTTTTGTA chr2: 113207623 0.7624,.,0.2376 0.74072215851172273,0.00000796381243628,0.25926987767584097 Region score:0.29; TSS score:0.43; Unmatched score:0.23; Average GERP:-0.10591089108910885 GeneName:PAX8-AS1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000189223; TranscriptID:ENST00000456685; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PSD4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000125637; TranscriptID:ENST00000245796; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003809 27863252 NONHSAT078136.2 rs156356 C N/A 164,454 european ancestry individuals EFO_0004584 N/A Associate Mean platelet volume rs156356-C of NONHSAT078136.2 is significantly associated with the mean platelet volume by using GWAS analysis in 164,454 european ancestry individuals(p-value = 8E-66 ;OR = 0.06528941). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT078136.2 lncRNA Mean platelet volume 0.33 CCCCAGCAGC(T > C)CCCAGGCAGC chr20: 1838634 0.2802,0.7198 0.36854134811416921,0.63145865188583078 Region score:0.29; TSS score:0.41; Unmatched score:0.21; Average GERP:-0.8306792079207924 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003810 27863252 NONHSAT000786.2 rs79412885 A N/A 170,494 european ancestry individuals EFO_0007989 N/A Associate Monocyte percentage of white cells rs79412885-A of NONHSAT000786.2 is significantly associated with the monocyte percentage of white cells by using GWAS analysis in 170,494 european ancestry individuals(p-value = 8E-14 ;OR = 0.05139473). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT000786.2 lncRNA Monocypte percentage of leukocytes 0.33 AGATAGAGGA(G > A)GGAAGAAAGA chr1: 9181780 0.9814,0.01857 0.95722636340468909,0.04277363659531090 Region score:0.47; TSS score:0.45; Unmatched score:0.91; Average GERP:-0.379910693069307 GeneName:LNCTAM34A; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000234546; TranscriptID:ENST00000412639; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR34AHG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000228526; TranscriptID:ENST00000635405; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000001086; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000346646; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003811 27424800 mir-2682 rs61786697 ? N/a Schizophrenias EFO_0000692 N/A Increasing risk Schizophrenia rs61786697-? of mir-2682 and its dysfunction is significantly associated with the increasing risk of Schizophrenia by using genome-wide association analysis in Schizophrenias. 0.4 Schizophrenia risk variants affecting microRNA function and site-specific regulation of NT5C2 by miR-206. genome-wide association analysis hsa-mir-2682 miRNA Schizophrenia 0.33 ACCTGGACGA(A > G)TGGACAGCTC chr1: 98048403 0.07388,0.9261 0.07974165392456676,0.92025834607543323 Region score:0.46; TSS score:0.5; Unmatched score:0.79; Average GERP:2.2278960396039595 GeneName:AC104453.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000285922; TranscriptID:ENST00000648602; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR137; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284202; TranscriptID:ENST00000385223; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR137HG; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000225206; TranscriptID:ENST00000634594; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR2682; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284247; TranscriptID:ENST00000580305; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000010436; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000366416; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003812 27135401 NONHSAT053287.2 rs11263763 A N/A 2,082 european ancestry endometrioid cases//130 european ancestry cases// 9,544 european ancestry controls; 4,553 european ancestry endometrioid cases//972 european ancestry cases//27,600 european ancestry controls EFO_1001512 N/A Associate Endometrial cancer rs11263763-A of NONHSAT053287.2 is significantly associated with the endometrial cancer by using GWAS analysis in 2,082 european ancestry endometrioid cases//130 european ancestry cases// 9,544 european ancestry controls; 4,553 european ancestry endometrioid cases//972 european ancestry cases//27,600 european ancestry controls(p-value = 3E-19 ;OR = 1.2). 0.4 Five endometrial cancer risk loci identified through genome-wide association analysis. genome-wide association analysis NONHSAT053287.2 lncRNA Endometrial cancer 0.33 CCGAAATCGC(A > G)GCGCTTCAGT chr17: 37743574 0.3552,0.6448 0.56869584607543323,0.43130415392456676 Region score:0.44; TSS score:0.62; Unmatched score:0.86; Average GERP:-1.1021396039603955 GeneName:HNF1B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000275410; TranscriptID:ENST00000617811; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000093699; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003813 28644415 NONHSAT163774.1 rs142426031 ? N/A 141 individuals EFO_0008111 N/A Associate Prudent dietary pattern rs142426031-? of NONHSAT163774.1 is significantly associated with the prudent dietary pattern by using GWAS analysis in 141 individuals(p-value = 7E-6 ;OR = ?). 0.4 Genome-Wide Association Study of Dietary Pattern Scores.LID - E649 [pii]LID - 10.3390/nu9070649 [doi]AB - Dietary patterns, representing global food supplies rather than specific nutrients or food intakes, have been associated with cardiovascul genome-wide association analysis NONHSAT163774.1 lncRNA Diet measurement 0.33 AAAACTCCAG(A > G)CCTGGATCAA chr12: 81124458 0.9976,0.002396 0.99644017584097859,0.00355982415902140 Region score:0.41; TSS score:0.07; Unmatched score:0.31; Average GERP:-0.4191241584158418 GeneName:AC078955.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000258026; TranscriptID:ENST00000547123; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ACSS3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000111058; TranscriptID:ENST00000548058; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003814 23648065 NONHSAT181389.1 rs4666360 C N/A 218 japanese ancestry cases//364 japanese controls DOID_615 paclitaxel Associate Adverse response to chemotherapy (neutropenia/leucopenia) rs4666360-C of NONHSAT181389.1 is significantly associated with the adverse response to chemotherapy (neutropenia/leucopenia) by using GWAS analysis in 218 japanese ancestry cases//364 japanese controls(p-value = 3E-6 ;OR = 2.136). 0.4 Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan. genome-wide association analysis NONHSAT181389.1 lncRNA Leukopenia 0.33 GATGCATCAG(G > A)CCCAGAGAAA chr2: 20135948 0.4375,0.5625 0.55003663353720693,0.44996336646279306 Region score:0.35; TSS score:0.39; Unmatched score:0.37; Average GERP:-1.047589108910891 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000290007; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000598940; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003815 28448500 NONHSAT036194.2 rs12885454 C N/A 2,518 african american women//86,278 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//55,137 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men EFO_0001073 joint analysis main effects and physical activity interaction Associate Body mass index rs12885454-C of NONHSAT036194.2 is significantly associated with the body mass index by using GWAS analysis in 2,518 african american women//86,278 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//55,137 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men(p-value = 2E-8 ;OR = 0.0219). 0.4 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. genome-wide association analysis NONHSAT036194.2 lncRNA Obesity 0.565 TTCAATTGAC(C > A)CAATTTCCAT chr14: 29267632 0.6873,0.3127 0.72136213047910295,0.27863786952089704 Region score:0.34; TSS score:0.22; Unmatched score:0.46; Average GERP:-0.24853198019801973 GeneName:AL133166.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000257522; TranscriptID:ENST00000551040; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003815 25673413 NONHSAT036194.2 rs12885454 C N/A up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals EFO_0001073 N/A Associate Body mass index rs12885454-C of NONHSAT036194.2 is significantly associated with the body mass index by using GWAS analysis in up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals(p-value = 3E-8 ;OR = 0.023). 0.4 Genetic studies of body mass index yield new insights for obesity biology. genome-wide association analysis NONHSAT036194.2 lncRNA Obesity 0.565 TTCAATTGAC(C > A)CAATTTCCAT chr14: 29267632 0.6873,0.3127 0.72136213047910295,0.27863786952089704 Region score:0.34; TSS score:0.22; Unmatched score:0.46; Average GERP:-0.24853198019801973 GeneName:AL133166.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000257522; TranscriptID:ENST00000551040; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003815 28443625 NONHSAT036194.2 rs12885454 A N/A 98,173 european ancestry women//64,373 european ancestry men//5,829 european ancestry individuals//10,500 african american/afro-caribbean ancestry women//2,706 african american/afro-caribbean ancestry men//1,030 indian asian ancestry women//7,648 indian asian ancestry men//1,793 filipino ancestry women//2,944 hispanic/latino ancestry women//1,764 hispanic/latino ancestry men; 21,496 european ancestry women//24,385 european ancestry men//118,364 european ancestry individuals//2,326 african american/afro-caribbean ancestry women//855 african american/afro-caribbean ancestry men EFO_0001073 adjusted for smoking behaviour Associate Bmi (adjusted for smoking behaviour) rs12885454-A of NONHSAT036194.2 is significantly associated with the bmi (adjusted for smoking behaviour) by using GWAS analysis in 98,173 european ancestry women//64,373 european ancestry men//5,829 european ancestry individuals//10,500 african american/afro-caribbean ancestry women//2,706 african american/afro-caribbean ancestry men//1,030 indian asian ancestry women//7,648 indian asian ancestry men//1,793 filipino ancestry women//2,944 hispanic/latino ancestry women//1,764 hispanic/latino ancestry men; 21,496 european ancestry women//24,385 european ancestry men//118,364 european ancestry individuals//2,326 african american/afro-caribbean ancestry women//855 african american/afro-caribbean ancestry men(p-value = 1E-6 ;OR = 0.0165). 0.4 Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits. genome-wide association analysis NONHSAT036194.2 lncRNA Obesity 0.565 TTCAATTGAC(C > A)CAATTTCCAT chr14: 29267632 0.6873,0.3127 0.72136213047910295,0.27863786952089704 Region score:0.34; TSS score:0.22; Unmatched score:0.46; Average GERP:-0.24853198019801973 GeneName:AL133166.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000257522; TranscriptID:ENST00000551040; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003815 28448500 NONHSAT036194.2 rs12885454 ? N/A 2,518 african american women//86,278 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//55,137 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men EFO_0001073 joint analysis main effects and physical activity interaction Associate Body mass index (joint analysis main effects and physical activity interaction) rs12885454-? of NONHSAT036194.2 is significantly associated with the body mass index (joint analysis main effects and physical activity interaction) by using GWAS analysis in 2,518 african american women//86,278 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//55,137 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men(p-value = 1E-6 ;OR = ?). 0.4 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. genome-wide association analysis NONHSAT036194.2 lncRNA Obesity 0.565 TTCAATTGAC(C > A)CAATTTCCAT chr14: 29267632 0.6873,0.3127 0.72136213047910295,0.27863786952089704 Region score:0.34; TSS score:0.22; Unmatched score:0.46; Average GERP:-0.24853198019801973 GeneName:AL133166.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000257522; TranscriptID:ENST00000551040; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003816 29059683 NONHSAT036863.2 rs35072154 T N/A 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls EFO_0000305 N/A Associate Breast cancer rs35072154-T of NONHSAT036863.2 is significantly associated with the breast cancer by using GWAS analysis in 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls(p-value = 3E-6 ;OR = 0.0301). 0.4 Association analysis identifies 65 new breast cancer risk loci. genome-wide association analysis NONHSAT036863.2 lncRNA Breast cancer 0.33 CTCTGAGCCC(C > T)GCAGTGCACT chr14: 51819674 0.7857,0.2143 0.73486875637104994,0.26513124362895005 Region score:0.35; TSS score:0.42; Unmatched score:0.54; Average GERP:-1.0436584158415845 GeneName:AL079307.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000258535; TranscriptID:ENST00000553312; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003817 23432519 NONHSAT035747.2 rs3811321 C N/A 263 european ancestry individuals; EFO_0005199 N/A Associate Renal transplant outcome rs3811321-C of NONHSAT035747.2 is significantly associated with the renal transplant outcome by using GWAS analysis in 263 european ancestry individuals; (p-value = 8E-8 ;OR = 0.481). 0.4 A genome-wide association study of recipient genotype and medium-term kidney allograft function. genome-wide association analysis NONHSAT035747.2 lncRNA Renal transplant outcome measurement 0.33 TTCCTAAGCT(A > C)TCTCAAAATG chr14: 22013585 0.8994,0.1006 0.90108148572884811,0.09891851427115188 Region score:0.33; TSS score:0.14; Unmatched score:0.4; Average GERP:0.08248514851485139 GeneName:AC245505.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000258705; TranscriptID:ENST00000553572; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003818 28928442 NONHSAT108603.2 rs2844790 ? N/A 4,426 european ancestry cases//84,290 european ancestry controls EFO_0008407 N/A Associate Tuberculosis rs2844790-? of NONHSAT108603.2 is significantly associated with the tuberculosis by using GWAS analysis in 4,426 european ancestry cases//84,290 european ancestry controls(p-value = 1E-8 ;OR = 0.1888). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. genome-wide association analysis NONHSAT108603.2 lncRNA Susceptibility to mycobacterium tuberculosis infection measurement 0.33 ATATTTTACC(C > G)AGCATTTTTA chr6: 30126336 0.9411,0.05891 0.90880638379204892,0.09119361620795107 Region score:0.28; TSS score:0.37; Unmatched score:0.21; Average GERP:0.10076138613861386 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003819 27863252 NONHSAT187909.1 rs7585866 G N/A 164,454 european ancestry individuals EFO_0004584 N/A Associate Mean platelet volume rs7585866-G of NONHSAT187909.1 is significantly associated with the mean platelet volume by using GWAS analysis in 164,454 european ancestry individuals(p-value = 3E-32 ;OR = 0.04484708). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT187909.1 lncRNA Mean platelet volume 0.33 AATTATATTC(A > G)TAGGCTAGGT chr2: 191831529 0.87,0.13 0.77298356269113149,0.22701643730886850 Region score:0.4; TSS score:0.55; Unmatched score:0.29; Average GERP:-1.0880683168316831 GeneName:CAVIN2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000168497; TranscriptID:ENST00000304141; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000631995; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000631996; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003820 27046643 NONHSAT148836.1 rs11210887 ? N/A 111,114 european ancestry individuals EFO_0004784 N/A Associate Educational attainment rs11210887-? of NONHSAT148836.1 is significantly associated with the educational attainment by using GWAS analysis in 111,114 european ancestry individuals(p-value = 1E-8 ;OR = 0.0261903). 0.4 Genome-wide association study of cognitive functions and educational attainment in UK Biobank (N=112 151). genome-wide association analysis NONHSAT148836.1 lncRNA Self reported educational attainment 0.33 TGGTTATTCT(G > A)CATGTCAAAT chr1: 43610348 0.5473,0.4527 0.47745444699286442,0.52254555300713557 Region score:0.19; TSS score:0.14; Unmatched score:0.14; Average GERP:0.21185445544554457 GeneName:PTPRF; CADD-Score:2; Consquence:intron; GeneID:ENSG00000142949; TranscriptID:ENST00000359947; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003821 26634245 NONHSAT047568.2 rs7174348 A N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs7174348-A of NONHSAT047568.2 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 8E-8 ;OR = 0.062). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT047568.2 lncRNA Pulmonary function measurement 0.33 TGATCCGCCC(G > A)CCTTGGCCTC chr15: 78500097 0.7308,0.2692 0.78946069062181447,0.21053930937818552 Region score:0.29; TSS score:0.35; Unmatched score:0.45; Average GERP:0.10582178217821776 GeneName:IREB2; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000136381; TranscriptID:ENST00000258886; AnnoType:3PRIME_UTR; mirSVR-Score:-0.0187; mirSVR-E:-27.76 | NCRV0000003822 23042114 NONHSAT214273.1 rs4722404 G N/A 1,472 japanese ancestry cases//7,971 japanese ancestry controls; 1,856 japanese ancestry cases//7,021 japanese ancestry controls EFO_0000274 N/A Associate Atopic dermatitis rs4722404-G of NONHSAT214273.1 is significantly associated with the atopic dermatitis by using GWAS analysis in 1,472 japanese ancestry cases//7,971 japanese ancestry controls; 1,856 japanese ancestry cases//7,021 japanese ancestry controls(p-value = 8E-9 ;OR = 1.18). 0.4 Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population. genome-wide association analysis NONHSAT214273.1 lncRNA Atopic eczema 0.33 GAGTTCAAGC(T > C)GGGGCAAGTC chr7: 3089155 0.6152,0.3848 0.60457282110091743,0.39542717889908256 Region score:0.21; TSS score:0.34; Unmatched score:0.28; Average GERP:-0.5643960396039603 GeneName:AC024028.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000228334; TranscriptID:ENST00000437145; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000324569; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003823 19448619 NONHSAT166352.1 rs7333181 A N/A 2,979 european ancestry female individuals; 2,560 european ancestry female individuals EFO_0004704 N/A Associate Menopause (age at onset) rs7333181-A of NONHSAT166352.1 is significantly associated with the menopause (age at onset) by using GWAS analysis in 2,979 european ancestry female individuals; 2,560 european ancestry female individuals(p-value = 3E-8 ;OR = 0.52). 0.4 Loci at chromosomes 13, 19 and 20 influence age at natural menopause. genome-wide association analysis NONHSAT166352.1 lncRNA Age at menopause 0.33 TTACATCTCC(G > A)TCTCAGCTGT chr13: 111568950 0.9175,0.08247 0.88948617482161060,0.11051382517838939 Region score:0.26; TSS score:0.22; Unmatched score:0.09; Average GERP:-0.25601415841584163 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003824 19851984 miR-100 rs1834306 T N/A 145 OPL patients and 136 matched controls EFO_0006566 N/A no significance for risk oral premalignant lesions rs1834306-T of hsa-mir-100 and its dysfunction is not significantly associated with Dysplastic oral keratinocyte by using case-control analysis in 145 OPL patients and 136 matched controls -0.4 Genetic variation in MicroRNA genes and risk of oral premalignant lesions. case-control analysis hsa-mir-100 miRNA Dysplastic oral keratinocyte -0.33 GTTCTCCCCA(A > G)CGTGCTTCCC chr11: 122152479 0.5471,0.4529 0.52398700305810397,0.47601299694189602 Region score:0.42; TSS score:0.47; Unmatched score:0.58; Average GERP:-2.193261089108911 GeneName:MIR100; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207994; TranscriptID:ENST00000385259; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR100HG; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000255248; TranscriptID:ENST00000534782; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003825 20953189 NONHSAT176856.1 rs1975974 G N/A up to 1,831 cases//up to 2,546 controls; up to 4,064 cases//up to 4,685 controls EFO_0000676 N/A Associate Psoriasis rs1975974-G of NONHSAT176856.1 is significantly associated with the psoriasis by using GWAS analysis in up to 1,831 cases//up to 2,546 controls; up to 4,064 cases//up to 4,685 controls(p-value = 1E-7 ;OR = 1.17). 0.4 Genome-wide association analysis identifies three psoriasis susceptibility loci. genome-wide association analysis NONHSAT176856.1 lncRNA Psoriasis 0.33 AAAAGATCAC(A > G)AGTTGAAAGG chr17: 22180454 0.8189,0.1811 0.82408734709480122,0.17591265290519877 Region score:0.37; TSS score:0.13; Unmatched score:0.04; Average GERP:-0.46053950495049484 GeneName:UBBP4; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000263563; TranscriptID:ENST00000648259; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003826 24118778 pre-miR-218 rs11134527 G Dominant 1012 healthy controls, 302 hepatitis b surface antigen (hbsag) seroclearance subjects and 2011 subjects with chronic hbv infection (1021 with hepatocellular carcinoma) EFO_0000182 N/A Increasing risk Hepatocellular carcinoma rs11134527-G of pre-miR-218 and its dysfunction is significantly associated with the increasing risk of hepatocellular carcinoma by using case-control analysis in 1012 healthy controls, 302 hepatitis B surface antigen (HBsAg) seroclearance subjects and 2011 subjects with chronic HBV infection (1021 with hepatocellular carcinoma). 0.4 Association of a potential functional pre-miR-218 polymorphism and its interaction with hepatitis B virus mutations with hepatocellular carcinoma risk. case-control analysis hsa-mir-218-1 miRNA Hepatocellular cancer 0.33 CCCACTGAGC(G > A)TGATTAGTAT chr5: 168768351 0.6538,0.3462 0.73466966106014271,0.26533033893985728 Region score:0.45; TSS score:0.35; Unmatched score:0.39; Average GERP:2.739732673267328 GeneName:MIR218-2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207739; TranscriptID:ENST00000385006; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SLIT3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000184347; TranscriptID:ENST00000332966; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003827 27683269 HOTAIR rs2366152 C N/a 23 hpv16 positive cacx cases, 8 hpv16 positive non-malignant samples, 8 hpv negative controls EFO_1002015 N/A Decreasing risk Hpv16-related cervical cancer pathogenesis rs2366152-C of HOTAIR and its dysfunction is significantly associated with the decreasing risk of HPV16-related cervical cancer pathogenesis by using case-control analysis in 23 HPV16 positive CaCx cases, 8 HPV16 positive non-malignant samples, 8 HPV negative controls. By using the disease cell lines or tissues, the mutation of HOTAIR has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 Identification of genetic variation in the lncRNA HOTAIR associated with HPV16-related cervical cancer pathogenesis. case-control analysis; Function HOTAIR lncRNA Hpv-associated cervical cancer 0.593 TTGAAATTGC(A > G)TTCTTCTGGG chr12: 53962605 0.6536,0.3464 0.63434155198776758,0.36565844801223241 Region score:0.4; TSS score:0.48; Unmatched score:0.61; Average GERP:-0.3766782178217821 GeneName:HOTAIR; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000228630; TranscriptID:ENST00000424518; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC12; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000123407; TranscriptID:ENST00000243103; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000458641; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01905; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000275589; TranscriptID:ENST00000611210; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01906; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277994; TranscriptID:ENST00000611352; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003828 22881374 NONHSAT190063.1 rs6085820 A N/A 109 amish cases//689 amish controls EFO_0000249 N/A Associate Alzheimer's disease (late onset) rs6085820-A of NONHSAT190063.1 is significantly associated with the alzheimer's disease (late onset) by using GWAS analysis in 109 amish cases//689 amish controls(p-value = 9E-6 ;OR = ?). 0.4 Genome-wide association and linkage study in the Amish detects a novel candidate late-onset Alzheimer disease gene. genome-wide association analysis NONHSAT190063.1 lncRNA Alzheimers disease 0.33 AGGAATAACT(G > T)GCAAGAGATA chr20: 6999988 0.9774,0.02256 0.96085786187563710,0.03914213812436289 Region score:0.32; TSS score:0.12; Unmatched score:0.03; Average GERP:-0.2516611881188121 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003829 20596022 NONHSAT200339.1 rs7682241 A N/A up to 1,054 european ancestry cases//3,278 european ancestry controls EFO_0004192 N/A Associate Alopecia areata rs7682241-A of NONHSAT200339.1 is significantly associated with the alopecia areata by using GWAS analysis in up to 1,054 european ancestry cases//3,278 european ancestry controls(p-value = 4E-8 ;OR = 1.34). 0.4 Genome-wide association study in alopecia areata implicates both innate and adaptive immunity. genome-wide association analysis NONHSAT200339.1 lncRNA Alopecia areata 0.33 TTAGAACTGG(G > T)TGTCTGTATG chr4: 122602720 0.6705,0.3295 0.69871304791029561,0.30128695208970438 Region score:0.41; TSS score:0.59; Unmatched score:0.5; Average GERP:0.33750792079207925 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000735197; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000735198; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003830 27863252 NONHSAT205084.1 rs56235845 G N/A 172,925 european ancestry individuals EFO_0004509 N/A Associate Hemoglobin concentration rs56235845-G of NONHSAT205084.1 is significantly associated with the hemoglobin concentration by using GWAS analysis in 172,925 european ancestry individuals(p-value = 1E-9 ;OR = 0.02294702). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT205084.1 lncRNA Hemoglobin measurement 0.33 CGGGTGAGCT(T > G)CCGGGCCGCG chr5: 177371039 0.618,0.382 0.61068902905198776,0.38931097094801223 Region score:0.51; TSS score:0.48; Unmatched score:0.88; Average GERP:0.1969073684210529 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000191328; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000318785; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RGS14; CADD-Score:5; Consquence:splice,intron; GeneID:ENSG00000169220; TranscriptID:ENST00000408923; AnnoType:SPLICE_SITE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003831 28416818 NONHSAT071152.2 rs2723064 T N/A 15,979 european ancestry cases//102,776 european ancestry controls. EFO_0000275 N/A Associate Atrial fibrillation rs2723064-T of NONHSAT071152.2 is significantly associated with the atrial fibrillation by using GWAS analysis in 15,979 european ancestry cases//102,776 european ancestry controls.(p-value = 2E-10 ;OR = 1.09). 0.4 Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation. genome-wide association analysis NONHSAT071152.2 lncRNA Atrial fibrillation 0.33 GCCAAGATCG(T > C)GCTACTGCAC chr2: 65052671 0.6124,0.3876 0.60592666921508664,0.39407333078491335 Region score:0.23; TSS score:0.31; Unmatched score:0.63; Average GERP:0.014544554455445523 GeneName:CEP68; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000011523; TranscriptID:ENST00000377990; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LINC02576; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000232613; TranscriptID:ENST00000622718; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003832 25177719 miR-646 rs6513497 G Dominant 997 HCC patients and 993 cancer-free controls EFO_0000182 N/A decreasing risk hepatocellular carcinoma rs6513497-G of hsa-mir-646 and its dysfunction is significantly associated with the decreasing risk of Hepatocellular carcinoma by using case-control analysis in 997 HCC patients and 993 cancer-free controls 0.4 Association between a variant in microRNA-646 and the susceptibility to hepatocellular carcinoma in a large-scale population. case-control analysis hsa-mir-646 miRNA Hepatocellular carcinoma 0 CAGCTGCCTC(T > A,G)GAGGCCTCAG chr20: 60308547 0.8091,.,0.1909 0.82626146788990825,.,0.17373853211009174 Region score:0.36; TSS score:0.24; Unmatched score:0.49; Average GERP:-2.09655207920792 GeneName:MIR646; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207802; TranscriptID:ENST00000385067; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR646HG; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000228340; TranscriptID:ENST00000432910; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003832 26152337 hsa-mir-646 rs6513497 G N/A 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A no significance for risk hepatocellular carcinoma rs6513497-G of hsa-mir-646 and its dysfunction is not significantly associated with Hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors -0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. case-control analysis hsa-mir-646 miRNA Hepatocellular carcinoma 0 CAGCTGCCTC(T > A,G)GAGGCCTCAG chr20: 60308547 0.8091,.,0.1909 0.82626146788990825,.,0.17373853211009174 Region score:0.36; TSS score:0.24; Unmatched score:0.49; Average GERP:-2.09655207920792 GeneName:MIR646; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207802; TranscriptID:ENST00000385067; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR646HG; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000228340; TranscriptID:ENST00000432910; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003833 24586183 NONHSAT173325.1 rs4889009 G N/A 1,769 european ancestry cases//16,528 european ancestry controls; 922 european ancestry cases//8,068 european ancestry controls EFO_1000627 N/A Associate Thyroid peroxidase antibody positivity rs4889009-G of NONHSAT173325.1 is significantly associated with the thyroid peroxidase antibody positivity by using GWAS analysis in 1,769 european ancestry cases//16,528 european ancestry controls; 922 european ancestry cases//8,068 european ancestry controls(p-value = 3E-7 ;OR = 1.14). 0.4 Identification of novel genetic Loci associated with thyroid peroxidase antibodies and clinical thyroid disease. genome-wide association analysis NONHSAT173325.1 lncRNA Thyroid disease 0.33 GGAGCACAGA(G > A,C)TCAGAATGTT chr16: 79666550 0.4371,.,0.5629 0.43230759429153924,0.00001592762487257,0.56767647808358817 Region score:0.29; TSS score:0.26; Unmatched score:0.17; Average GERP:-1.5802910891089106 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003834 22778062 SNORA29 rs3818299 G N/a N/a function N/A Not significant changes in the structure Function rs3818299-G of SNORA29 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORA29 snoRNA Function -0.049 AGTAATAATA(T > A,C)CCGTTCAGCC chr6: 159785599 0.6078,.,0.3922 0.53519208715596330,0.00002389143730886,0.46478402140672782 Region score:0.27; TSS score:0.12; Unmatched score:0.55; Average GERP:0.09626732673267364 GeneName:MRPL18; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000112110; TranscriptID:ENST00000367034; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORA29; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000206910; TranscriptID:ENST00000384183; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TCP1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000120438; TranscriptID:ENST00000321394; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003835 22589738 NONHSAT151459.1 rs7547921 A N/A 5,560 european ancestry female individuals//4,997 european ancestry male individuals EFO_0004767 N/A Associate Visceral adipose tissue/subcutaneous adipose tissue ratio rs7547921-A of NONHSAT151459.1 is significantly associated with the visceral adipose tissue/subcutaneous adipose tissue ratio by using GWAS analysis in 5,560 european ancestry female individuals//4,997 european ancestry male individuals(p-value = 8E-6 ;OR = ?). 0.4 Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. genome-wide association analysis NONHSAT151459.1 lncRNA Visceral:subcutaneous adipose tissue ratio 0.33 GCATGGAATT(C > A)AGGGCGCCTC chr1: 38136401 0.8892,0.1108 0.88971712538226299,0.11028287461773700 Region score:0.42; TSS score:0.41; Unmatched score:0.36; Average GERP:0.42467900990099017 GeneName:AL139158.3; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000284623; TranscriptID:ENST00000641212; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000004940; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003836 23251661 NONHSAT059073.2 rs9304270 A N/A 815 hispanic children from 263 families EFO_0005187 N/A Associate Obesity-related traits rs9304270-A of NONHSAT059073.2 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 2E-6 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. genome-wide association analysis NONHSAT059073.2 lncRNA C-peptide measurement 0.33 TTGCTGATAA(C > T)GGTTAGTGTG chr18: 42357544 0.7596,0.2404 0.79732097349643221,0.20267902650356778 Region score:0.35; TSS score:0.15; Unmatched score:0.03; Average GERP:-0.6534385148514851 GeneName:LINC00907; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000267586; TranscriptID:ENST00000593234; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003837 27863252 NONHSAT192373.1 rs713909 C N/A 172,435 european ancestry individuals EFO_0004308 N/A Associate White blood cell count rs713909-C of NONHSAT192373.1 is significantly associated with the white blood cell count by using GWAS analysis in 172,435 european ancestry individuals(p-value = 1E-9 ;OR = 0.0220845). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT192373.1 lncRNA Leukocyte count 0.33 AGACACTGTG(G > A,C,T)CTTCTTCCCT chr22: 39136415 0.633,.,0.367,. 0.58031504841997961,0.00000796381243628,0.41966902395514780,0.00000796381243628 Region score:0.14; TSS score:0.13; Unmatched score:0.17; Average GERP:-0.5798333663366336 GeneName:AL031846.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000279833; TranscriptID:ENST00000624656; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CBX7; CADD-Score:2; Consquence:intron; GeneID:ENSG00000100307; TranscriptID:ENST00000216133; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003838 19557161 NONHSAT150553.1 rs2605100 G N/A 38,580 european ancestry individuals; up to 102,064 european ancestry individuals EFO_0001073 N/A Associate Adiposity rs2605100-G of NONHSAT150553.1 is significantly associated with the adiposity by using GWAS analysis in 38,580 european ancestry individuals; up to 102,064 european ancestry individuals(p-value = 3E-8 ;OR = 0.04). 0.4 Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution. genome-wide association analysis NONHSAT150553.1 lncRNA Obesity 0.33 CAACTGTCCA(A > G)TGGATGAACA chr1: 219470882 0.1911,0.8089 0.22976395259938837,0.77023604740061162 Region score:0.48; TSS score:0.37; Unmatched score:0.08; Average GERP:-0.9281386435643567 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003839 25740697 piR_005938 rs10433310 T N/A 1147 patients with CRC (cases) and 1203 cancer-free individuals EFO_0005842 N/A no significance for risk colorectal cancer rs10433310-T of piR_005938 and its dysfunction is not significantly associated with Colorectal cancer by using case-control analysis in 1147 patients with CRC (cases) and 1203 cancer-free individuals -0.4 Genetic variants in noncoding PIWI-interacting RNA and colorectal cancer risk. case-control analysis piR_005938 piRNA Colorectal cancer -0.33 CTTTGCTCTC(G > A)GCTGTGTCAC chr22: 23896636 0.6695,0.3305 0.67838939857288481,0.32161060142711518 Region score:0.24; TSS score:0.23; Unmatched score:0.47; Average GERP:-1.5523970297029699 GeneName:AP000350.4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000251357; TranscriptID:ENST00000433835; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AP000350.6; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000273295; TranscriptID:ENST00000609510; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIF-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000218537; TranscriptID:ENST00000406213; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIF; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000240972; TranscriptID:ENST00000215754; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003840 26154020 NONHSAT157215.1 rs4980079 T N/A 530 european ancestry cases//926 european ancestry controls Orphanet_282 N/A Associate Frontotemporal dementia rs4980079-T of NONHSAT157215.1 is significantly associated with the frontotemporal dementia by using GWAS analysis in 530 european ancestry cases//926 european ancestry controls(p-value = 5E-6 ;OR = 1.46). 0.4 A genome-wide screening and SNPs-to-genes approach to identify novel genetic risk factors associated with frontotemporal dementia. genome-wide association analysis NONHSAT157215.1 lncRNA Frontotemporal dementia 0.33 GGGAGAGTTC(T > C)GATAAAAACC chr10: 79434463 0.2837,0.7163 0.34086709989806320,0.65913290010193679 Region score:0.22; TSS score:0.27; Unmatched score:0.3; Average GERP:-1.677737623762376 GeneName:ZCCHC24; CADD-Score:2; Consquence:intron; GeneID:ENSG00000165424; TranscriptID:ENST00000372336; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003841 20500689 miRNA-146a rs2910164 C N/a 29 patients with psa, 49 patients with ankylosing spondylitis, and 66 ethnic matching random controls EFO_0003778 N/A No significance for risk Psoriatic arthritis rs2910164 -C of miRNA-146a and its dysfunction is not significantly associated with psoriatic arthritis by using case-control analysis in 29 patients with PsA, 49 patients with ankylosing spondylitis, and 66 ethnic matching random controls. -0.4 The role of microRNA-146a (miR-146a) and its target IL-1R-associated kinase (IRAK1) in psoriatic arthritis susceptibility. case-control analysis hsa-mir-146a miRNA Psoriatic arthritis -0.33 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 N/A 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003842 27863252 NONHSAT183488.1 rs715 C N/A 164,339 european ancestry individuals EFO_0007985 N/A Associate Plateletcrit rs715-C of NONHSAT183488.1 is significantly associated with the plateletcrit by using GWAS analysis in 164,339 european ancestry individuals(p-value = 1E-9 ;OR = 0.02410037). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT183488.1 lncRNA Plateletcrit 0.33 TTCTGAACTC(T > C)TTCTATACTT chr2: 210678331 0.7638,0.2362 0.72770928899082568,0.27229071100917431 Region score:0.52; TSS score:0.86; Unmatched score:0.84; Average GERP:0.6805089108910892 GeneName:CPS1; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000021826; TranscriptID:ENST00000430249; AnnoType:3PRIME_UTR; mirSVR-Score:-1.1081; mirSVR-E:-13.72 | NCRV0000003843 28604625 miR-938 rs12416605 A N/A 143 patients with POI (mean age 卤 SD, 31.34 卤 4.97 years) and 227 control participants without POI (mean age 卤 SD, 33.34 卤 5.70 years) EFO_0004266 N/A increasing risk primary ovarian insufficiency rs12416605-A of hsa-mir-938 and its dysfunction is significantly associated with the increasing risk of Primary ovarian insufficiency by using case-control analysis in 143 patients with POI (mean age 卤 SD, 31.34 卤 4.97 years) and 227 control participants without POI (mean age 卤 SD, 33.34 卤 5.70 years) 0.9 Association of miR-938G>A Polymorphisms with Primary Ovarian Insufficiency (POI)-Related Gene Expression. case-control analysis hsa-mir-938 miRNA Primary ovarian insufficiency 0.593 CCTTTAAGGG(C > T)ACATGGTACA chr10: 29602331 0.875,0.125 0.81958779306829765,0.18041220693170234 Region score:0.34; TSS score:0.06; Unmatched score:0.41; Average GERP:-0.7954999009900992 GeneName:MIR938; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000216035; TranscriptID:ENST00000401216; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000399692; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SVIL; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197321; TranscriptID:ENST00000355867; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003844 24475105 miR-101 rs17718377 C N/a 1064 breast cancer cases and 1073 cancer-free controls EFO_0000305 N/A No significance for risk Breast cancer rs17718377-C of miR-101 and its dysfunction is not significantly associated with breast cancer by using case-control analysis in 1064 breast cancer cases and 1073 cancer-free controls. -0.4 Genetic variations in the flanking regions of miR-101-2 are associated with increased risk of breast cancer. case-control analysis hsa-mir-101-1 miRNA Breast cancer -0.33 CAGCTCTGTC(C > A,G)CATATCCAGT chr9: 4854472 0.7907,.,0.2093 0.79888984454638124,.,0.20111015545361875 Region score:0.22; TSS score:0.21; Unmatched score:0.27; Average GERP:-0.04291287128712874 GeneName:AL158147.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000228165; TranscriptID:ENST00000443970; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR101-2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000199065; TranscriptID:ENST00000362195; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000874559; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RCL1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000120158; TranscriptID:ENST00000381750; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003845 27694959 NONHSAT188919.1 rs3088220 T N/A 984 european ancestry individuals; 530 european ancestry individuals EFO_0007874 N/A Associate Gut microbiota (functional units) rs3088220-T of NONHSAT188919.1 is significantly associated with the gut microbiota (functional units) by using GWAS analysis in 984 european ancestry individuals; 530 european ancestry individuals(p-value = 3E-9 ;OR = 5.951341). 0.4 The effect of host genetics on the gut microbiome. genome-wide association analysis NONHSAT188919.1 lncRNA Gut microbiome measurement 0.33 GACCCAAGCC(C > T)TTCCTTCTGC chr20: 50278219 0.8293,0.1707 0.79752006880733944,0.20247993119266055 Region score:0.24; TSS score:0.32; Unmatched score:0.65; Average GERP:-0.6926257425742574 GeneName:SMIM25; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000224397; TranscriptID:ENST00000425497; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003846 27863252 NONHSAT186815.1 rs4670221 G N/A 164,454 european ancestry individuals EFO_0004584 N/A Associate Mean platelet volume rs4670221-G of NONHSAT186815.1 is significantly associated with the mean platelet volume by using GWAS analysis in 164,454 european ancestry individuals(p-value = 3E-10 ;OR = 0.02458502). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT186815.1 lncRNA Mean platelet volume 0.33 TGATTTCAAT(C > G,T)GAATGAGAGC chr2: 37823089 0.649,0.351,. 0.63645992609582059,0.36323744903160040,0.00030262487257900 Region score:0.37; TSS score:0.32; Unmatched score:0.31; Average GERP:-0.40232376237623757 GeneName:LINC00211; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000237803; TranscriptID:ENST00000413792; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003847 21345130 mir-499 rs3746444 C N/a 212 histologically confirmed patients with urinary bladder cancer and 250 healthy controls EFO_0000292 N/A No significance for risk Bladder cancer rs3746444-C of mir-499 and its dysfunction is not significantly associated with bladder cancer by using case-control analysis in 212 histologically confirmed patients with urinary bladder cancer and 250 healthy controls. -0.4 Investigative role of pre-microRNAs in bladder cancer patients: a case-control study in North India. case-control analysis hsa-mir-499a miRNA Bladder cancer -0.33 CCACGTGAAC(A > G)TCACAGCAAG chr20: 34990448 0.8165,0.1835 0.81708715596330275,0.18291284403669724 Region score:0.79; TSS score:0.85; Unmatched score:0.95; Average GERP:3.757564356435645 GeneName:MIR499A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207635; TranscriptID:ENST00000384903; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR499B; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283441; TranscriptID:ENST00000636498; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYH7B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000078814; TranscriptID:ENST00000262873; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003848 26621817 NONHSAT028182.2 rs12817211 C N/A 5,725 european ancestry colorectal carcinoma cases//2,212 european ancestry endometrial carcinoma cases//13,396 european ancestry controls EFO_0005842 N/A Associate Colorectal or endometrial cancer rs12817211-C of NONHSAT028182.2 is significantly associated with the colorectal or endometrial cancer by using GWAS analysis in 5,725 european ancestry colorectal carcinoma cases//2,212 european ancestry endometrial carcinoma cases//13,396 european ancestry controls(p-value = 3E-6 ;OR = 1.12). 0.4 Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1. genome-wide association analysis NONHSAT028182.2 lncRNA Colorectal cancer 0.33 AAATCAGCCT(C > T)ACTCGTATCT chr12: 50185615 0.9193,0.08067 0.86489392201834862,0.13510607798165137 Region score:0.45; TSS score:0.3; Unmatched score:0.63; Average GERP:0.4031455445544551 GeneName:AC008147.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000257298; TranscriptID:ENST00000552061; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LIMA1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000050405; TranscriptID:ENST00000394943; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003849 25390645 NONHSAT204511.1 rs12153327 C N/A 324 african american cases//273 african american controls//757 european ancestry cases//940 european ancestry controls EFO_0006788 N/A Associate Anxiety disorder rs12153327-C of NONHSAT204511.1 is significantly associated with the anxiety disorder by using GWAS analysis in 324 african american cases//273 african american controls//757 european ancestry cases//940 european ancestry controls(p-value = 2E-6 ;OR = 0.064). 0.4 Genome-wide and gene-based association studies of anxiety disorders in European and African American samples. genome-wide association analysis NONHSAT204511.1 lncRNA Anxiety disorder 0.33 ACTGTTACAC(C > A,T)GCATTGTCTC chr5: 101365896 0.7089,.,0.2911 0.59535869011213047,0.00000796381243628,0.40463334607543323 Region score:0.31; TSS score:0.3; Unmatched score:0.06; Average GERP:-0.5613237623762376 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003850 27702941 NONHSAT214397.1 rs10683220 G N/A 9,054 european ancestry individuals; 822 european ancestry individuals EFO_0007872 N/A Associate Caffeine metabolism (plasma 1,3,7-trimethylxanthine (caffeine) level) rs10683220-G of NONHSAT214397.1 is significantly associated with the caffeine metabolism (plasma 1,3,7-trimethylxanthine (caffeine) level) by using GWAS analysis in 9,054 european ancestry individuals; 822 european ancestry individuals(p-value = 2E-6 ;OR = 4.7). 0.4 Genome-wide association study of caffeine metabolites provides new insights to caffeine metabolism and dietary caffeine-consumption behavior. genome-wide association analysis NONHSAT214397.1 lncRNA Caffeine metabolite measurement 0.33 ATTGATAAAA(G > GTCAACA,GTTAACA)TTAACAGACC chr7: 17357122 0.5182,.,0.4818 0.47024719673802242,0.00002389143730886,0.52972891182466870 N/A GeneName:AC019117.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000283321; TranscriptID:ENST00000637807; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003851 29186694 NONHSAT054187.2 rs17563986 ? N/A 107,207 european ancestry individuals EFO_0008354 N/A Associate Cognitive ability rs17563986-? of NONHSAT054187.2 is significantly associated with the cognitive ability by using GWAS analysis in 107,207 european ancestry individuals(p-value = 8E-8 ;OR = 5.368). 0.4 Large-Scale Cognitive GWAS Meta-Analysis Reveals Tissue-Specific Neural Expression and Potential Nootropic Drug Targets. genome-wide association analysis NONHSAT054187.2 lncRNA Cognitive function measurement 0.33 TTGGGCTTTC(A > G)TGATGCTCAC chr17: 45913906 0.9139,0.08606 0.85191290774719673,0.14808709225280326 Region score:0.14; TSS score:0.33; Unmatched score:0.17; Average GERP:-0.9796260396039609 GeneName:CR936218.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000262881; TranscriptID:ENST00000574252; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MAPT; CADD-Score:2; Consquence:intron; GeneID:ENSG00000186868; TranscriptID:ENST00000344290; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000557017; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003852 28393844 LINC00305 rs2676671 ? Dominant 17 patients with atherosclerosis and 7 healthy controls EFO_0003914 N/A Increasing risk Atherosclerosis rs2676671-? of LINC00305 and its dysfunction is significantly associated with the increasing risk of atherosclerosis by using genome-wide association analysis in 17 patients with atherosclerosis and 7 healthy controls. By using the disease cell lines or tissues, the interference of LINC00305 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. Moreover, the ncRNA variation-disease association was validated by complex experiments. 1.4 Long noncoding RNA LINC00305 promotes inflammation by activating the AHRR-NF-kappaB pathway in human monocytes. genome-wide association analysis; Function; Mechanism LINC00305 lncRNA Atherosclerosis 0.753 GCTCAGGAAC(T > A)CCTGCCAAAT chr18: 64103651 0.875,0.125 0.85693807339449541,0.14306192660550458 Region score:0.37; TSS score:0.21; Unmatched score:0.14; Average GERP:-0.20123376237623772 GeneName:LINC00305; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000179676; TranscriptID:ENST00000323355; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LINC01924; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000267134; TranscriptID:ENST00000589376; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003853 22778062 SNORA34 rs77079422 T N/a N/a function N/A Not significant changes in the structure Function rs77079422-T of SNORA34 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORA34 snoRNA Function -0.049 N/A N/A N/A N/A N/A N/A NCRV0000003854 27918536 NONHSAT204426.1 rs3814424 T N/A 76,551 european ancestry individuals; 46,581 european ancestry individuals EFO_0007912 N/A Associate Conscientiousness rs3814424-T of NONHSAT204426.1 is significantly associated with the conscientiousness by using GWAS analysis in 76,551 european ancestry individuals; 46,581 european ancestry individuals(p-value = 6E-7 ;OR = 0.289). 0.4 Genome-wide analyses for personality traits identify six genomic loci and show correlations with psychiatric disorders. genome-wide association analysis NONHSAT204426.1 lncRNA Conscientiousness measurement 0.33 ATTCCTCTCC(C > T)CTGCTCAACA chr5: 88673135 0.6991,0.3009 0.77010066258919469,0.22989933741080530 Region score:0.33; TSS score:0.46; Unmatched score:0.8; Average GERP:1.8761765346534653 GeneName:LINC00461; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000245526; TranscriptID:ENST00000505030; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MEF2C-AS2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000245864; TranscriptID:ENST00000510274; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000761582; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003855 26152337 hsa-mir-1208 rs2648841 T N/a 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs2648841-T of hsa-mir-1208 and its dysfunction is not significantly associated with hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors. -0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. case-control analysis hsa-mir-1208 miRNA Hepatocellular cancer -0.33 CCACTGTGGT(G > A,T)GGGGGGAGTG chr8: 128150187 N/A 0.82426255096839959,0.05476713812436289,0.12097031090723751 Region score:0.49; TSS score:0.47; Unmatched score:0.57; Average GERP:0.558732673267327 GeneName:MIR1208; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000221261; TranscriptID:ENST00000408334; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000230660; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003856 22354554 NONHSAT196142.1 rs4688011 T N/A 814 european ancestry cases//658 european ancestry controls//2,400 controls; 1,744 european ancestry cases//7,010 european ancestry controls EFO_0002609 N/A Associate Arthritis (juvenile idiopathic) rs4688011-T of NONHSAT196142.1 is significantly associated with the arthritis (juvenile idiopathic) by using GWAS analysis in 814 european ancestry cases//658 european ancestry controls//2,400 controls; 1,744 european ancestry cases//7,010 european ancestry controls(p-value = 1E-7 ;OR = 1.23). 0.4 Genome-wide association analysis of juvenile idiopathic arthritis identifies a new susceptibility locus at chromosomal region 3q13. genome-wide association analysis NONHSAT196142.1 lncRNA Chronic childhood arthritis 0.33 GAGGGCAGCA(G > A)TTTACCCATG chr3: 119508400 0.8544,0.1456 0.84808231396534148,0.15191768603465851 Region score:0.29; TSS score:0.12; Unmatched score:0.15; Average GERP:0.1428217821782176 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000697897; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TIMMDC1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000113845; TranscriptID:ENST00000494664; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003857 24144296 NONHSAT163675.1 rs10400419 T N/A 12,531 european ancestry individuals; 8,216 asian ancestry individuals EFO_0005318 N/A Associate Axial length rs10400419-T of NONHSAT163675.1 is significantly associated with the axial length by using GWAS analysis in 12,531 european ancestry individuals; 8,216 asian ancestry individuals(p-value = 2E-7 ;OR = 0.0562). 0.4 Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error. genome-wide association analysis NONHSAT163675.1 lncRNA Axial length measurement 0.33 CAATACTCAC(T > A,C)GCTACGTGTG chr12: 65996188 0.3574,.,0.6426 0.43620189857288481,0.00132199286442405,0.56247610856269113 Region score:0.41; TSS score:0.41; Unmatched score:0.17; Average GERP:-0.46545148514851514 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000461009; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003858 19414484 NONHSAT161941.1 rs4149056 C N/A 9,464 individuals EFO_0004570 N/A Associate Bilirubin levels rs4149056-C of NONHSAT161941.1 is significantly associated with the bilirubin levels by using GWAS analysis in 9,464 individuals(p-value = 7E-13 ;OR = 0.05). 0.4 Genome-wide association meta-analysis for total serum bilirubin levels. genome-wide association analysis NONHSAT161941.1 lncRNA Bilirubin measurement 0.33 TGGATATATG(T > C)GTTCATGGGT chr12: 21178615 0.9123,0.08766 0.88942246432212028,0.11057753567787971 Region score:0.23; TSS score:0.25; Unmatched score:0.35; Average GERP:1.2973861386138623 GeneName:AC022335.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000257062; TranscriptID:ENST00000543498; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SLCO1B1; CADD-Score:7; Consquence:missense; GeneID:ENSG00000134538; TranscriptID:ENST00000256958; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003859 27171184 NONHSAT151158.1 rs10127456 T N/A 11 taiwanese ancestry cases//146 taiwanese ancestry controls EFO_0004246 N/A Associate Coronary artery aneurysm in kawasaki disease rs10127456-T of NONHSAT151158.1 is significantly associated with the coronary artery aneurysm in kawasaki disease by using GWAS analysis in 11 taiwanese ancestry cases//146 taiwanese ancestry controls(p-value = 1E-6 ;OR = 16.0). 0.4 Genome-Wide Association Study Identifies Novel Susceptibility Genes Associated with Coronary Artery Aneurysm Formation in Kawasaki Disease. genome-wide association analysis NONHSAT151158.1 lncRNA Mucocutaneous lymph node syndrome 0.33 TAAACCATTC(G > A)GGCTTACTTC chr1: 15327376 0.7802,0.2198 0.76275006371049949,0.23724993628950050 Region score:0.28; TSS score:0.34; Unmatched score:0.82; Average GERP:-0.1592118811881188 GeneName:AL031283.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000233485; TranscriptID:ENST00000428747; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:FHAD1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000142621; TranscriptID:ENST00000358897; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003860 27723756 NONHSAT172811.1 rs12149695 A N/A 1,812 european ancestry individuals EFO_0007874 bacterial taxa Associate Gut microbiota (bacterial taxa) rs12149695-A of NONHSAT172811.1 is significantly associated with the gut microbiota (bacterial taxa) by using GWAS analysis in 1,812 european ancestry individuals(p-value = 2E-9 ;OR = 0.61). 0.4 Genome-wide association analysis identifies variation in vitamin D receptor and other host factors influencing the gut microbiota. genome-wide association analysis NONHSAT172811.1 lncRNA Gut microbiome measurement 0.33 CTGTGGGTGG(T > A)TAATATTTGT chr16: 27270108 0.2614,0.7386 0.36161283129459734,0.63838716870540265 Region score:0.5; TSS score:0.56; Unmatched score:0.65; Average GERP:-0.6346477227722773 GeneName:NSMCE1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000169189; TranscriptID:ENST00000361439; AnnoType:UPSTREAM; mirSVR-Score:-0.7073; mirSVR-E:-24.36 | GeneName:NSMCE1-DT; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000245888; TranscriptID:ENST00000499939; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.7073; mirSVR-E:-24.36 | NCRV0000003861 27863252 NONHSAT101836.2 rs3756668 A N/A 172,332 european ancestry individuals EFO_0004527 N/A Associate Mean corpuscular hemoglobin rs3756668-A of NONHSAT101836.2 is significantly associated with the mean corpuscular hemoglobin by using GWAS analysis in 172,332 european ancestry individuals(p-value = 4E-17 ;OR = 0.02984507). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT101836.2 lncRNA Mean corpuscular hemoglobin 0.33 CACCAGACCT(G > A,C)TTCTGCCCAA chr5: 68300260 0.3826,0.6174,. 0.39523604740061162,0.59132103720693170,0.01344291539245667 Region score:0.38; TSS score:0.74; Unmatched score:0.67; Average GERP:-0.3217633663366336 GeneName:PIK3R1; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000145675; TranscriptID:ENST00000521381; AnnoType:3PRIME_UTR; mirSVR-Score:-0.0672; mirSVR-E:-11.68 | NCRV0000003862 20881960 NONHSAT108734.2 rs879882 ? N/A 133,653 european ancestry individuals; 50,074 european ancestry individuals EFO_0004339 N/A Associate Height rs879882-? of NONHSAT108734.2 is significantly associated with the height by using GWAS analysis in 133,653 european ancestry individuals; 50,074 european ancestry individuals(p-value = 2E-7 ;OR = ?). 0.4 Hundreds of variants clustered in genomic loci and biological pathways affect human height. genome-wide association analysis NONHSAT108734.2 lncRNA Body height 0.33 AAGGGGTTGG(T > C,G)CCCTACTTCC chr6: 31171675 0.4447,0.5553,. 0.40116908766564729,0.59882294852191641,0.00000796381243628 Region score:0.32; TSS score:0.43; Unmatched score:0.66; Average GERP:-0.7977980198019794 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000787508; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:POU5F1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000204531; TranscriptID:ENST00000259915; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PSORS1C3; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000204528; TranscriptID:ENST00000412143; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TCF19; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000137310; TranscriptID:ENST00000542218; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003863 28540026 NONHSAT210476.1 rs73416724 A N/A schizophrenia cases and controls (see ripke//2014)cases//up to 1,190 controls EFO_0000692 N/A Associate Schizophrenia rs73416724-A of NONHSAT210476.1 is significantly associated with the schizophrenia by using GWAS analysis in schizophrenia cases and controls (see ripke//2014)cases//up to 1,190 controls(p-value = 3E-8 ;OR = 1.09). 0.4 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. genome-wide association analysis NONHSAT210476.1 lncRNA Schizophrenia 0.33 GCCCACCGAA(A > G)TCCTGTCCCC chr6: 43370064 0.9135,0.08646 0.89501306065239551,0.10498693934760448 Region score:0.45; TSS score:0.6; Unmatched score:0.9; Average GERP:-0.8394465346534654 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000197124; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000791056; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ZNF318; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000171467; TranscriptID:ENST00000361428; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003864 27636879 MIR381HG rs72700576 T N/a 899 individuals with crcs categorized by clinical subtypes and in 204 controls EFO_0005842 N/A Increasing risk Colorectal cancer rs72700576-T of MIR381HG and its dysfunction is significantly associated with the increasing risk of colorectal cancer by using case-control analysis in 899 individuals with CRCs categorized by clinical subtypes and in 204 controls. 0.4 Germline miRNA DNA variants and the risk of colorectal cancer by subtype. case-control analysis hsa-mir-381 miRNA Colorectal cancer 0.33 GGGATGCACG(C > T)ATCAGCCCTT chr14: 101047458 0.9852,0.01478 0.97734295361875637,0.02265704638124362 Region score:0.3; TSS score:0.19; Unmatched score:0.25; Average GERP:-0.9344712871287126 GeneName:MIR1185-1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000221525; TranscriptID:ENST00000408598; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR1185-2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000221614; TranscriptID:ENST00000408687; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR381; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000199020; TranscriptID:ENST00000362150; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR381HG; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000258861; TranscriptID:ENST00000553692; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR487A; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207742; TranscriptID:ENST00000385009; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR487B; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207754; TranscriptID:ENST00000385021; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR539; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000202560; TranscriptID:ENST00000365690; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR544A; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207587; TranscriptID:ENST00000384855; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR655; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207646; TranscriptID:ENST00000362159; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR889; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000216099; TranscriptID:ENST00000401280; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000507776; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003865 28654678 NONHSAT166454.1 rs314879 ? N/A 389 east asian ancestry individuals//189 south asian ancestry individuals//492 european ancestry individuals//467 sub-saharan african ancestry individuals//59 african american individuals//157 hispanic/latino individuals EFO_0000769 N/A Associate Epstein-barr virus copy number in lymphoblastoid cell lines rs314879-? of NONHSAT166454.1 is significantly associated with the epstein-barr virus copy number in lymphoblastoid cell lines by using GWAS analysis in 389 east asian ancestry individuals//189 south asian ancestry individuals//492 european ancestry individuals//467 sub-saharan african ancestry individuals//59 african american individuals//157 hispanic/latino individuals(p-value = 5E-7 ;OR = ?). 0.4 Genetic factors affecting EBV copy number in lymphoblastoid cell lines derived from the 1000 Genome Project samples. genome-wide association analysis NONHSAT166454.1 lncRNA Epstein-barr virus infection 0.33 GTATGGATTG(C > T)TTGGATTTAT chr13: 22735243 0.2131,0.7869 0.22060556829765545,0.77939443170234454 Region score:0.47; TSS score:0.5; Unmatched score:0.21; Average GERP:-0.1774108910891089 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003866 22661538 let-7f-2 rs17276588 ? N/A 1,097 patients with CRC EFO_0005842 N/A no significance for risk colorectal cancer rs17276588-? of hsa-let-7f-2 and its dysfunction is not significantly associated with Colorectal cancer by using analysis of sequence variation in 1,097 patients with CRC -0.4 Genetic polymorphisms in MicroRNA-related genes as predictors of clinical outcomes in colorectal adenocarcinoma patients. analysis of sequence variation hsa-let-7f-2 miRNA Colorectal cancer -0.33 ACCAATGTGG(G > A)ACTTTGCAAG chrX: 53557457 0.9012,0.09881 0.94305874108053007,0.05694125891946992 Region score:0.66; TSS score:0.13; Unmatched score:0.41; Average GERP:1.1050594059405945 GeneName:HUWE1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000086758; TranscriptID:ENST00000342160; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR98; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000271886; TranscriptID:ENST00000606724; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIRLET7F2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000208012; TranscriptID:ENST00000385277; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003867 27790247 NONHSAT184204.1 rs16867253 ? N/A 9,618 european ancestry individuals; 19,796 european ancestry individuals EFO_0006988 N/A Associate Age-related diseases mortality and associated endophenotypes rs16867253-? of NONHSAT184204.1 is significantly associated with the age-related diseases mortality and associated endophenotypes by using GWAS analysis in 9,618 european ancestry individuals; 19,796 european ancestry individuals(p-value = 6E-7 ;OR = ?). 0.4 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases. genome-wide association analysis NONHSAT184204.1 lncRNA Endophenotype 0.33 CAGACTTCTT(G > T)TGATAGGTGT chr2: 9956965 0.9471,0.05292 0.94175267584097859,0.05824732415902140 Region score:0.34; TSS score:0.19; Unmatched score:0.23; Average GERP:-0.29513564356435634 GeneName:GRHL1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000134317; TranscriptID:ENST00000324907; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003868 25886283 NONHSAT056261.2 rs11891 T N/A 2,317 european ancestry children//1,283 african american ancestry children EFO_0004845 N/A Associate Magnesium levels rs11891-T of NONHSAT056261.2 is significantly associated with the magnesium levels by using GWAS analysis in 2,317 european ancestry children//1,283 african american ancestry children(p-value = 7E-6 ;OR = 0.0322). 0.4 Genome-wide association study of serum minerals levels in children of different ethnic background. genome-wide association analysis NONHSAT056261.2 lncRNA Magnesium measurement 0.33 GGCCAAGAAC(G > A)CCGACATGTG chr17: 78992703 0.8287,0.1713 0.86381084352701325,0.13618915647298674 Region score:0.37; TSS score:0.6; Unmatched score:0.6; Average GERP:-1.2951000000000004 GeneName:CANT1; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000171302; TranscriptID:ENST00000302345; AnnoType:3PRIME_UTR; mirSVR-Score:-0.3816; mirSVR-E:-14.55 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000565651; AnnoType:REGULATORY; mirSVR-Score:-0.3816; mirSVR-E:-14.55 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000565652; AnnoType:REGULATORY; mirSVR-Score:-0.3816; mirSVR-E:-14.55 | NCRV0000003869 26198764 NONHSAT172124.1 rs117799466 C N/A 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls EFO_0000692 N/A Associate Schizophrenia rs117799466-C of NONHSAT172124.1 is significantly associated with the schizophrenia by using GWAS analysis in 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls(p-value = 2E-6 ;OR = 1.06). 0.4 Genome-wide association study of schizophrenia in Ashkenazi Jews. genome-wide association analysis NONHSAT172124.1 lncRNA Schizophrenia 0.33 TGGCGCCCCT(G > C)CTCCTCCGCG chr15: 34367316 0.746,0.254 0.75368724515800203,0.24631275484199796 Region score:0.61; TSS score:0.39; Unmatched score:0.95; Average GERP:0.09481683168316836 GeneName:LPCAT4; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000176454; TranscriptID:ENST00000314891; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000074794; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000512157; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003870 26634245 NONHSAT151858.1 rs114304737 A N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs114304737-A of NONHSAT151858.1 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 3E-6 ;OR = 0.771). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT151858.1 lncRNA Pulmonary function measurement 0.33 TGGCAGAATG(G > A)GCATAGGTTT chr1: 86265746 0.9952,0.004792 0.98899401121304791,0.01100598878695208 Region score:0.33; TSS score:0.11; Unmatched score:0.01; Average GERP:-0.5144356435643564 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003871 23362303 NONHSAT102192.2 rs4555772 A N/A 8,961 european ancestry individuals; EFO_0001645 N/A Associate Stearic acid (18:0) levels rs4555772-A of NONHSAT102192.2 is significantly associated with the stearic acid (18:0) levels by using GWAS analysis in 8,961 european ancestry individuals; (p-value = 4E-6 ;OR = 0.0888). 0.4 Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium. genome-wide association analysis NONHSAT102192.2 lncRNA Coronary heart disease 0.33 GCAACTTTAC(A > G)AAAATAATGT chr5: 75006833 0.4665,0.5335 0.52558772935779816,0.47441227064220183 Region score:0.31; TSS score:0.14; Unmatched score:0.38; Average GERP:0.24931683168316793 GeneName:AC093259.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000249157; TranscriptID:ENST00000509755; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC116337.3; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000249856; TranscriptID:ENST00000505200; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000759137; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003872 28212542 NONHSAT189594.1 rs1885120 C N/A 4,842 european ancestry cases//286,565 european ancestry controls; 1,804 european ancestry cases//1,026 european ancestry controls EFO_0000756 N/A Associate Melanoma rs1885120-C of NONHSAT189594.1 is significantly associated with the melanoma by using GWAS analysis in 4,842 european ancestry cases//286,565 european ancestry controls; 1,804 european ancestry cases//1,026 european ancestry controls(p-value = 2E-18 ;OR = 1.55). 0.4 Two-stage genome-wide association study identifies a novel susceptibility locus associated with melanoma. genome-wide association analysis NONHSAT189594.1 lncRNA Melanoma 0.33 GAATGCTGCT(C > G)ATGGCAAGAG chr20: 34989186 0.01278,0.9872 0.04669979612640163,0.95330020387359836 Region score:0.45; TSS score:0.12; Unmatched score:0.23; Average GERP:-0.4143309900990097 GeneName:MIR499A; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207635; TranscriptID:ENST00000384903; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR499B; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000283441; TranscriptID:ENST00000636498; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYH7B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000078814; TranscriptID:ENST00000262873; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003873 19801982 NONHSAT174674.1 rs10048146 G N/A 19,195 european ancestry individuals EFO_0007701 N/A Associate Bone mineral density (spine) rs10048146-G of NONHSAT174674.1 is significantly associated with the bone mineral density (spine) by using GWAS analysis in 19,195 european ancestry individuals(p-value = 2E-8 ;OR = 0.09). 0.4 Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies. genome-wide association analysis NONHSAT174674.1 lncRNA Spine bone mineral density 0.33 GGGCTCTTTC(A > G)TTTTGGAGAC chr16: 86677054 0.8393,0.1607 0.82807721712538226,0.17192278287461773 Region score:0.36; TSS score:0.37; Unmatched score:0.2; Average GERP:-0.3806782178217822 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000545172; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003874 27863252 NONHSAT207279.1 rs16895831 T N/A 170,672 european ancestry individuals EFO_0007994 N/A Associate Neutrophil percentage of granulocytes rs16895831-T of NONHSAT207279.1 is significantly associated with the neutrophil percentage of granulocytes by using GWAS analysis in 170,672 european ancestry individuals(p-value = 2E-12 ;OR = 0.0315432). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT207279.1 lncRNA Neutrophil percentage of granulocytes 0.33 TGGCTGCCGG(C > T)TGTGGATTCC chr6: 42548053 0.8033,0.1967 0.79576803007135575,0.20423196992864424 Region score:0.39; TSS score:0.39; Unmatched score:0.52; Average GERP:0.009751485148514826 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000790835; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003875 27863252 NONHSAT200257.1 rs7679673 A N/A 170,384 european ancestry individuals EFO_0009390 N/A Associate Sum neutrophil eosinophil counts rs7679673-A of NONHSAT200257.1 is significantly associated with the sum neutrophil eosinophil counts by using GWAS analysis in 170,384 european ancestry individuals(p-value = 2E-10 ;OR = 0.02349569). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT200257.1 lncRNA Sum of neutrophil and eosinophil counts 0.33 ATTTTTGACA(C > A)AACTCTATCA chr4: 105140377 0.4083,0.5917 0.48941609327217125,0.51058390672782874 Region score:0.14; TSS score:0.18; Unmatched score:0.43; Average GERP:-0.9553586138613857 GeneName:AC004069.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000251259; TranscriptID:ENST00000504082; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000171428; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003876 22837378 NONHSAT188244.1 rs7607316 A N/A up to 3,368 european ancestry cases//up to 29,507 european ancestry controls; 331 european ancestry cases//2,550 european ancestry controls EFO_0003892 N/A Associate Airflow obstruction rs7607316-A of NONHSAT188244.1 is significantly associated with the airflow obstruction by using GWAS analysis in up to 3,368 european ancestry cases//up to 29,507 european ancestry controls; 331 european ancestry cases//2,550 european ancestry controls(p-value = 3E-6 ;OR = 1.29). 0.4 Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction. genome-wide association analysis NONHSAT188244.1 lncRNA Pulmonary function measurement 0.33 AGCAGAACCC(C > A)TCAGCTCTTT chr2: 236613199 0.6685,0.3315 0.67412875891946992,0.32587124108053007 Region score:0.26; TSS score:0.3; Unmatched score:0.14; Average GERP:-0.73279702970297 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003877 18650507 NONHSAT161941.1 rs4149056 C N/A 85 european ancestry cases//90 european ancestry controls; 21 european ancestry cases//16,643 european ancestry controls GO_0036273 N/A Associate Response to statin therapy rs4149056-C of NONHSAT161941.1 is significantly associated with the response to statin therapy by using GWAS analysis in 85 european ancestry cases//90 european ancestry controls; 21 european ancestry cases//16,643 european ancestry controls(p-value = 2E-9 ;OR = 4.5). 0.4 SLCO1B1 variants and statin-induced myopathy--a genomewide study. genome-wide association analysis NONHSAT161941.1 lncRNA Response to statin 0.33 TGGATATATG(T > C)GTTCATGGGT chr12: 21178615 0.9123,0.08766 0.88942246432212028,0.11057753567787971 Region score:0.23; TSS score:0.25; Unmatched score:0.35; Average GERP:1.2973861386138623 GeneName:AC022335.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000257062; TranscriptID:ENST00000543498; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SLCO1B1; CADD-Score:7; Consquence:missense; GeneID:ENSG00000134538; TranscriptID:ENST00000256958; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003878 22038834 miRNA-96 rs546098287 G Dominant 882 nshl patients and 836 normal-hearing italian controls Orphanet_87884 N/A Increasing risk Non-syndromic inherited hearing loss rs546098287-G of miRNA-96 and its dysfunction is significantly associated with the increasing risk of non-syndromic inherited hearing loss by using case-control analysis in 882 NSHL patients and 836 normal-hearing Italian controls . By using the disease cell lines or tissues, the interference and mutation of miRNA-96 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 A novel mutation within the MIR96 gene causes non-syndromic inherited hearing loss in an Italian family by altering pre-miRNA processing. case-control analysis; Function hsa-mir-96 miRNA Non-syndromic genetic deafness 0.593 GGCACTGCAC(A > G)TGATTGCTCA chr7: 129774713 0.9998,0.0001997 0.99996814475025484,0.00003185524974515 N/A GeneName:MIR182; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207990; TranscriptID:ENST00000385255; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR183; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207691; TranscriptID:ENST00000384958; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR96; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000199158; TranscriptID:ENST00000362288; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003879 28736931 NONHSAT189647.1 rs41308713 ? N/A 781 european ancestry individuals//138 african american ancestry individuals//345 unknown ancestry individuals; EFO_0001360 fenofibrate Associate Triglyceride change in response to fenofibrate in statin-treated type 2 diabetes rs41308713-? of NONHSAT189647.1 is significantly associated with the triglyceride change in response to fenofibrate in statin-treated type 2 diabetes by using GWAS analysis in 781 european ancestry individuals//138 african american ancestry individuals//345 unknown ancestry individuals; (p-value = 2E-7 ;OR = 0.114). 0.4 Genetic Variants in HSD17B3, SMAD3, and IPO11 Impact Circulating Lipids in Response to Fenofibrate in Individuals With Type 2 Diabetes. genome-wide association analysis NONHSAT189647.1 lncRNA Type ii diabetes mellitus 0.33 CAACTTTCTC(C > T)ATTTGTTCGA chr20: 38421365 0.9429,0.05711 0.90863117991845056,0.09136882008154943 Region score:0.42; TSS score:0.21; Unmatched score:0.63; Average GERP:-0.3026544554455444 GeneName:AL391095.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000224635; TranscriptID:ENST00000422519; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AL391095.3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000275401; TranscriptID:ENST00000621084; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF00056; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000277034; TranscriptID:ENST00000362582; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNHG17; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000196756; TranscriptID:ENST00000449469; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORA71B; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000235408; TranscriptID:ENST00000439232; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003880 28540026 NONHSAT218016.1 rs56223946 ? N/A up to 6,197 european ancestry asd cases//up to 7,377 european ancestry controls//up to 1,190 asd cases//up to 1,190 controls EFO_0003756 N/A Associate Autism spectrum disorder rs56223946-? of NONHSAT218016.1 is significantly associated with the autism spectrum disorder by using GWAS analysis in up to 6,197 european ancestry asd cases//up to 7,377 european ancestry controls//up to 1,190 asd cases//up to 1,190 controls(p-value = 3E-9 ;OR = 1.098901). 0.4 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. genome-wide association analysis NONHSAT218016.1 lncRNA Autism spectrum disorder 0.33 CCTGCCTTGG(C > T)CTCCCAAAGT chr8: 27556469 0.9587,0.04133 0.92396151885830784,0.07603848114169215 Region score:0.26; TSS score:0.3; Unmatched score:0.14; Average GERP:0.07208910891089108 GeneName:GULOP; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000234770; TranscriptID:ENST00000454030; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003881 20358594 miRNA-140 rs7205289 A N/A 557 patients with nonsyndromic oral clefts and 306 unaffected controls HP_0000175 N/A increasing risk Cleft palate rs7205289-A of hsa-mir-140 and its dysfunction is significantly associated with the increasing risk of Cleft palate by using case-control analysis in 557 patients with nonsyndromic oral clefts and 306 unaffected controls 0.9 Single nucleotide polymorphism associated with nonsyndromic cleft palate influences the processing of miR-140. case-control analysis hsa-mir-140 miRNA Cleft palate 0.843 CTGTGTCCTG(C > A)CAGTGGTTTT chr16: 69933102 0 RS=7205289;RSPOS=69933102;dbSNPBuildID=116;SSR=0;SAO=0;VP=0x050028080005000002000100;GENEINFO=MIR140:406932|WWP2:11060;WGT=1;VC=SNV;PM;PMC;INT;ASP Region score:0.59; TSS score:0.34; Unmatched score:0.69; Average GERP:4.888415841584163 GeneName:MIR140; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000208017; TranscriptID:ENST00000385282; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:WWP2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000198373; TranscriptID:ENST00000359154; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003881 22012839 microRNA-140 rs7205289 A recessive 169 patients with nonsyndromic cleft palate and 306 unaffected controls HP_0000175 N/A increasing risk Cleft palate rs7205289-A of hsa-mir-140 and its dysfunction is significantly associated with the increasing risk of Cleft palate by using case-control analysis in 169 patients with nonsyndromic cleft palate and 306 unaffected controls 1.4 Biological and epidemiological evidence of interaction of infant genotypes at Rs7205289 and maternal passive smoking in cleft palate. case-control analysis hsa-mir-140 miRNA Cleft palate 0.843 CTGTGTCCTG(C > A)CAGTGGTTTT chr16: 69933102 0 RS=7205289;RSPOS=69933102;dbSNPBuildID=116;SSR=0;SAO=0;VP=0x050028080005000002000100;GENEINFO=MIR140:406932|WWP2:11060;WGT=1;VC=SNV;PM;PMC;INT;ASP Region score:0.59; TSS score:0.34; Unmatched score:0.69; Average GERP:4.888415841584163 GeneName:MIR140; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000208017; TranscriptID:ENST00000385282; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:WWP2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000198373; TranscriptID:ENST00000359154; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003882 28067908 NONHSAT203343.1 rs6863411 ? N/A 12,194 european and unknown ancestry cases//28,072 european and unknown ancestry controls EFO_0000384 N/A Associate Crohn's disease rs6863411-? of NONHSAT203343.1 is significantly associated with the crohn's disease by using GWAS analysis in 12,194 european and unknown ancestry cases//28,072 european and unknown ancestry controls(p-value = 7E-12 ;OR = ?). 0.4 Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease. genome-wide association analysis NONHSAT203343.1 lncRNA Crohn's disease 0.451 CTGATTAATC(A > T)CATAACTCTT chr5: 142133639 0.3337,0.6663 0.32366526503567787,0.67633473496432212 Region score:0.38; TSS score:0.2; Unmatched score:0.22; Average GERP:0.19251485148514857 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000187964; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NDFIP1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000131507; TranscriptID:ENST00000253814; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003882 26192919 NONHSAT203343.1 rs6863411 A N/A 5,956 european ancestry cases//14,927 european ancestry controls; 14,594 european ancestry cases//26,715 european ancestry controls//151 iranian ancestry cases//342 iranian ancestry controls//184 indian ancestry cases//990 indian ancestry controls//1,690 east asian ancestry cases//3,719 east asian ancestry controls EFO_0000384 N/A Associate Crohn's disease rs6863411-A of NONHSAT203343.1 is significantly associated with the crohn's disease by using GWAS analysis in 5,956 european ancestry cases//14,927 european ancestry controls; 14,594 european ancestry cases//26,715 european ancestry controls//151 iranian ancestry cases//342 iranian ancestry controls//184 indian ancestry cases//990 indian ancestry controls//1,690 east asian ancestry cases//3,719 east asian ancestry controls(p-value = 2E-14 ;OR = 1.1018033). 0.4 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. genome-wide association analysis NONHSAT203343.1 lncRNA Crohn's disease 0.451 CTGATTAATC(A > T)CATAACTCTT chr5: 142133639 0.3337,0.6663 0.32366526503567787,0.67633473496432212 Region score:0.38; TSS score:0.2; Unmatched score:0.22; Average GERP:0.19251485148514857 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000187964; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NDFIP1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000131507; TranscriptID:ENST00000253814; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003883 28008999 NONHSAT003779.2 rs11209026 ? N/A 622 polish ancestry child cases//496 polish ancestry adult cases//582 polish ancestry controls; 192 polish ancestry child cases//185 polish ancestry adult cases//352 polish ancestry controls EFO_0003767 N/A Associate Inflammatory bowel disease rs11209026-? of NONHSAT003779.2 is significantly associated with the inflammatory bowel disease by using GWAS analysis in 622 polish ancestry child cases//496 polish ancestry adult cases//582 polish ancestry controls; 192 polish ancestry child cases//185 polish ancestry adult cases//352 polish ancestry controls(p-value = 2E-6 ;OR = 2.169659). 0.4 Genetic architecture differences between pediatric and adult-onset inflammatory bowel diseases in the Polish population. genome-wide association analysis NONHSAT003779.2 lncRNA Inflammatory bowel disease 0.52 AGATCATTCC(G > A)AACTGGGTAG chr1: 67240275 0.9772,0.02276 0.95546636085626911,0.04453363914373088 Region score:0.42; TSS score:0.36; Unmatched score:0.6; Average GERP:1.6307445544554449 GeneName:IL23R; CADD-Score:7; Consquence:missense; GeneID:ENSG00000162594; TranscriptID:ENST00000347310; AnnoType:NON_SYNONYMOUS; mirSVR-Score:-1.3115; mirSVR-E:-14.41 | NCRV0000003883 23128233 NONHSAT003779.2 rs11209026 G N/A 12,924 european ancestry cases//21,442 european ancestry controls; 25,683 european ancestry cases//17,015 european ancestry controls EFO_0003767 N/A Associate Inflammatory bowel disease rs11209026-G of NONHSAT003779.2 is significantly associated with the inflammatory bowel disease by using GWAS analysis in 12,924 european ancestry cases//21,442 european ancestry controls; 25,683 european ancestry cases//17,015 european ancestry controls(p-value = 8E-161 ;OR = 2.013). 0.4 Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. genome-wide association analysis NONHSAT003779.2 lncRNA Inflammatory bowel disease 0.52 AGATCATTCC(G > A)AACTGGGTAG chr1: 67240275 0.9772,0.02276 0.95546636085626911,0.04453363914373088 Region score:0.42; TSS score:0.36; Unmatched score:0.6; Average GERP:1.6307445544554449 GeneName:IL23R; CADD-Score:7; Consquence:missense; GeneID:ENSG00000162594; TranscriptID:ENST00000347310; AnnoType:NON_SYNONYMOUS; mirSVR-Score:-1.3115; mirSVR-E:-14.41 | NCRV0000003883 18758464 NONHSAT003779.2 rs11209026 ? N/A 1,011 european ancestry cases//4,250 european ancestry controls; 1,922 european ancestry cases//14,124 european ancestry controls EFO_0003767 N/A Associate Inflammatory bowel disease rs11209026-? of NONHSAT003779.2 is significantly associated with the inflammatory bowel disease by using GWAS analysis in 1,011 european ancestry cases//4,250 european ancestry controls; 1,922 european ancestry cases//14,124 european ancestry controls(p-value = 7E-11 ;OR = 2.56). 0.4 Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease. genome-wide association analysis NONHSAT003779.2 lncRNA Inflammatory bowel disease 0.52 AGATCATTCC(G > A)AACTGGGTAG chr1: 67240275 0.9772,0.02276 0.95546636085626911,0.04453363914373088 Region score:0.42; TSS score:0.36; Unmatched score:0.6; Average GERP:1.6307445544554449 GeneName:IL23R; CADD-Score:7; Consquence:missense; GeneID:ENSG00000162594; TranscriptID:ENST00000347310; AnnoType:NON_SYNONYMOUS; mirSVR-Score:-1.3115; mirSVR-E:-14.41 | NCRV0000003884 28093568 NONHSAT198178.1 rs12500482 ? N/A up to 35,298 european ancestry individuals EFO_0003925 N/A Associate Cognitive function rs12500482-? of NONHSAT198178.1 is significantly associated with the cognitive function by using GWAS analysis in up to 35,298 european ancestry individuals(p-value = 1E-6 ;OR = 0.038). 0.4 GWAS meta-analysis reveals novel loci and genetic correlates for general cognitive function: a report from the COGENT consortium. genome-wide association analysis NONHSAT198178.1 lncRNA Cognition 0.33 CCTCCCTCAC(A > C,G)CCCCTCCCTG chr4: 2428508 0.4387,.,0.5613 0.44977223496432212,0.01577631243628950,0.53445145259938837 Region score:0.26; TSS score:0.16; Unmatched score:0.31; Average GERP:-0.04000495049504935 GeneName:CFAP99; CADD-Score:2; Consquence:intron; GeneID:ENSG00000206113; TranscriptID:ENST00000616117; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003885 23382691 NONHSAT129174.2 rs10108033 C N/A 2,247 european ancestry individuals EFO_0002690 N/A Associate Igg glycosylation rs10108033-C of NONHSAT129174.2 is significantly associated with the igg glycosylation by using GWAS analysis in 2,247 european ancestry individuals(p-value = 1E-6 ;OR = 2.9565). 0.4 Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. genome-wide association analysis NONHSAT129174.2 lncRNA Systemic lupus erythematosus 0.33 GTGCACACAC(T > C)CTAGATTTAC chr8: 131318469 0.2105,0.7895 0.13614137359836901,0.86385862640163098 Region score:0.23; TSS score:0.16; Unmatched score:0.17; Average GERP:-0.3136851485148514 GeneName:AC104257.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000253507; TranscriptID:ENST00000524275; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003886 27863252 NONHSAT108610.2 rs1264622 T N/A 170,548 european ancestry individuals EFO_0007986 N/A Associate Immature fraction of reticulocytes rs1264622-T of NONHSAT108610.2 is significantly associated with the immature fraction of reticulocytes by using GWAS analysis in 170,548 european ancestry individuals(p-value = 4E-13 ;OR = 0.03202955). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT108610.2 lncRNA Reticulocyte count 0.33 AAGGACTCTC(C > T)CTCATGGTGT chr6: 30289159 0.9425,0.05751 0.87411601681957186,0.12588398318042813 Region score:0.32; TSS score:0.25; Unmatched score:0.14; Average GERP:-0.5453465346534655 GeneName:AL662795.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000280128; TranscriptID:ENST00000624252; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HCG17; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000270604; TranscriptID:ENST00000453558; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HCG18; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000231074; TranscriptID:ENST00000426882; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HLA-L; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000243753; TranscriptID:ENST00000482052; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003887 23527680 NONHSAT218631.1 rs6983777 A N/A 1,851 individuals; 155 individuals EFO_0003888 N/A Associate Attention deficit hyperactivity disorder (combined symptoms) rs6983777-A of NONHSAT218631.1 is significantly associated with the attention deficit hyperactivity disorder (combined symptoms) by using GWAS analysis in 1,851 individuals; 155 individuals(p-value = 8E-6 ;OR = ?). 0.4 Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits. genome-wide association analysis NONHSAT218631.1 lncRNA Attention deficit hyperactivity disorder 0.33 TGCTCATCCC(A > G)GAGCCTAAGT chr8: 103106338 0.4954,0.5046 0.49231492099898063,0.50768507900101936 Region score:0.33; TSS score:0.48; Unmatched score:0.36; Average GERP:-0.4376782178217822 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000864640; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003888 18369459 NONHSAT207105.1 rs2395029 C N/A 218 european ancestry cases//519 european ancestry controls; 1,153 european ancestry cases//1,217 european ancestry controls EFO_0000676 N/A Associate Psoriasis rs2395029-C of NONHSAT207105.1 is significantly associated with the psoriasis by using GWAS analysis in 218 european ancestry cases//519 european ancestry controls; 1,153 european ancestry cases//1,217 european ancestry controls(p-value = 2E-26 ;OR = 4.1). 0.4 A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease loci. genome-wide association analysis NONHSAT207105.1 lncRNA Psoriasis 0.33 AATTCCCCTG(T > G)GGCAGCTGTA chr6: 31464003 0.9667,0.03335 0.97352828746177370,0.02647171253822629 Region score:0.33; TSS score:0.37; Unmatched score:0.78; Average GERP:0 GeneName:AL645933.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000233902; TranscriptID:ENST00000440087; AnnoType:UPSTREAM; mirSVR-Score:-0.2598; mirSVR-E:-16.72 | GeneName:HCP5; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000206337; TranscriptID:ENST00000414046; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.2598; mirSVR-E:-16.72 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000195544; AnnoType:REGULATORY; mirSVR-Score:-0.2598; mirSVR-E:-16.72 | NCRV0000003889 22778062 SNORD115-44 rs72546368 G N/A N/A function N/A not significant changes in the structure function rs72546368-G of SNORD115-44 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in nan -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD115-44 snoRNA function -0.049 AGAACCTTAT(A > G)TTGTCCTGAA chr15: 25250881 0.995,0.004992 0.99147075688073394,0.00852924311926605 Region score:0.49; TSS score:0.04; Unmatched score:0.56; Average GERP:0.11364851485148522 GeneName:AC124303.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000280234; TranscriptID:ENST00000623883; AnnoType:UPSTREAM; mirSVR-Score:-0.0544; mirSVR-E:-10.64 | GeneName:SNHG14; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000224078; TranscriptID:ENST00000453082; AnnoType:INTRONIC; mirSVR-Score:-0.0544; mirSVR-E:-10.64 | GeneName:SNORD115-42; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000201143; TranscriptID:ENST00000364273; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0544; mirSVR-E:-10.64 | GeneName:SNORD115-43; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000202373; TranscriptID:ENST00000365503; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0544; mirSVR-E:-10.64 | GeneName:SNORD115-44; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000202261; TranscriptID:ENST00000365391; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0544; mirSVR-E:-10.64 | NCRV0000003890 28334935 NONHSAT092201.2 rs6762719 A N/A 12,586 hispanic/latino individuals EFO_0006334 N/A Associate Iron status biomarkers (total iron binding capacity) rs6762719-A of NONHSAT092201.2 is significantly associated with the iron status biomarkers (total iron binding capacity) by using GWAS analysis in 12,586 hispanic/latino individuals(p-value = 1E-323 ;OR = 0.676). 0.4 Genome-wide association study of iron traits and relation to diabetes in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL): potential genomic intersection of iron and glucose regulation? genome-wide association analysis NONHSAT092201.2 lncRNA Total iron binding capacity 0.33 TCCCAGAGGT(A > G)GAATTCTTAT chr3: 133761973 0.651,0.349 0.68106523955147808,0.31893476044852191 Region score:0.12; TSS score:0.12; Unmatched score:0.37; Average GERP:-0.10379801980198022 GeneName:AC080128.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000244062; TranscriptID:ENST00000474389; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TF; CADD-Score:2; Consquence:intron; GeneID:ENSG00000091513; TranscriptID:ENST00000402696; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003891 27863252 NONHSAT144816.2 rs8068017 C N/A 169,822 european ancestry individuals EFO_0007987 N/A Associate Granulocyte count rs8068017-C of NONHSAT144816.2 is significantly associated with the granulocyte count by using GWAS analysis in 169,822 european ancestry individuals(p-value = 5E-10 ;OR = 0.0245413). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT144816.2 lncRNA Granulocyte count 0.33 CCACTACACC(T > A,C)GGCTAGTTTT chr17: 1417822 0.3413,.,0.6587 0.30352478338430173,0.00006371049949031,0.69641150611620795 Region score:0.24; TSS score:0.2; Unmatched score:0.05; Average GERP:-0.06180000000000001 GeneName:CRK; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000167193; TranscriptID:ENST00000300574; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003892 22778062 SNORD68 rs78090204 T N/A N/A function N/A not significant changes in the structure function rs78090204-T of SNORD68 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in nan -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD68 snoRNA function -0.049 TGGCCTCAGT(C > G)GCGTGATGAC chr16: 89561430 0 0.99999203618756371,0.00000796381243628 Region score:0.24; TSS score:0.32; Unmatched score:0.81; Average GERP:-0.8833762376237616 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000089740; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RPL13; CADD-Score:2; Consquence:intron; GeneID:ENSG00000167526; TranscriptID:ENST00000311528; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SNORD68; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000200084; TranscriptID:ENST00000363214; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SPG7; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000197912; TranscriptID:ENST00000645818; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003893 24475105 miR-101 rs555146 A N/A 1064 breast cancer cases and 1073 cancer-free controls EFO_0000305 N/A no significance for risk breast carcinoma rs555146-A of hsa-mir-101-1 and its dysfunction is not significantly associated with Breast carcinoma by using case-control analysis in 1064 breast cancer cases and 1073 cancer-free controls -0.4 Genetic variations in the flanking regions of miR-101-2 are associated with increased risk of breast cancer. case-control analysis hsa-mir-101-1 miRNA Breast carcinoma -0.33 CAAATGTCCA(A > C,T)TACTGCTTTG chr1: 65061724 0.1498,0.8502,. 0.16531281855249745,0.83461550713557594,0.00007167431192660 Region score:0.37; TSS score:0.23; Unmatched score:0.18; Average GERP:0.28438613861386147 GeneName:AL357078.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000231485; TranscriptID:ENST00000448344; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR101-1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000199135; TranscriptID:ENST00000362265; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3671; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000265996; TranscriptID:ENST00000580455; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003894 27863252 NONHSAT183670.1 rs35669853 A N/A 169,545 european ancestry individuals EFO_0007997 N/A Associate Granulocyte percentage of myeloid white cells rs35669853-A of NONHSAT183670.1 is significantly associated with the granulocyte percentage of myeloid white cells by using GWAS analysis in 169,545 european ancestry individuals(p-value = 2E-11 ;OR = 0.03052791). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT183670.1 lncRNA Granulocyte percentage of myeloid white cells 0.33 ACATACATTC(G > A)TTTCACTACC chr2: 226423002 0.8818,0.1182 0.86485410295616717,0.13514589704383282 Region score:0.46; TSS score:0.22; Unmatched score:0.14; Average GERP:-0.04473960396039602 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003895 26969751 NONHSAT158576.1 rs7897969 ? N/A 5,008 european ancestry prepubescent females//5,082 european ancestry prepubescent males//4,238 european ancestry pubescent females//4,185 european ancestry pubescent males//2,680 european ancestry post-pubescent females//2,496 european ancestry post-pubescent males EFO_0006336 N/A Associate Diastolic blood pressure rs7897969-? of NONHSAT158576.1 is significantly associated with the diastolic blood pressure by using GWAS analysis in 5,008 european ancestry prepubescent females//5,082 european ancestry prepubescent males//4,238 european ancestry pubescent females//4,185 european ancestry pubescent males//2,680 european ancestry post-pubescent females//2,496 european ancestry post-pubescent males(p-value = 5E-7 ;OR = 0.749). 0.4 International Genome-Wide Association Study Consortium Identifies Novel Loci Associated With Blood Pressure in Children and Adolescents. genome-wide association analysis NONHSAT158576.1 lncRNA Diastolic blood pressure 0.33 CCTGTGGTGC(A > G)TCTCTTTTGT chr10: 124241230 0.8425,0.1575 0.88434155198776758,0.11565844801223241 Region score:0.39; TSS score:0.42; Unmatched score:0.13; Average GERP:-0.8556936633663367 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000418673; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003896 26220383 NONHSAT168560.1 rs118166657 ? N/A 34 korean ancestry cases//1,080 korean ancestry healthy controls EFO_1001253 Epilepsy and lamotrigine-induced Associate Epilepsy and lamotrigine-induced maculopapular eruptions rs118166657-? of NONHSAT168560.1 is significantly associated with the epilepsy and lamotrigine-induced maculopapular eruptions by using GWAS analysis in 34 korean ancestry cases//1,080 korean ancestry healthy controls(p-value = 1E-7 ;OR = 7.2). 0.4 GWAS identifies two susceptibility loci for lamotrigine-induced skin rash in patients with epilepsy. genome-wide association analysis NONHSAT168560.1 lncRNA Maculopapular eruption 0.33 TCTTTTATCC(C > G)TTTGGGGGGA chr14: 63580544 0.9595,0.04054 0.98666857798165137,0.01333142201834862 Region score:0.45; TSS score:0.21; Unmatched score:0.09; Average GERP:0.4404069306930695 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003897 28240269 NONHSAT061043.2 rs5498 G N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0008164 N/A Associate Blood protein levels rs5498-G of NONHSAT061043.2 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 2E-32 ;OR = 0.5107). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. genome-wide association analysis NONHSAT061043.2 lncRNA Intercellular adhesion molecule 5 measurement 0.33 GGTCACCCGC(A > G)AGGTGACCGT chr19: 10285007 0.6412,0.3588 0.64197884811416921,0.35802115188583078 Region score:0.31; TSS score:0.24; Unmatched score:0.46; Average GERP:-1.2877524752475251 GeneName:AC011511.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000266978; TranscriptID:ENST00000592893; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC011511.5; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000267607; TranscriptID:ENST00000589379; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ICAM1; CADD-Score:7; Consquence:missense; GeneID:ENSG00000090339; TranscriptID:ENST00000264832; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ICAM4; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000105371; TranscriptID:ENST00000340992; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ICAM5; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000105376; TranscriptID:ENST00000221980; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003898 24380734 miR-100 rs1834306 T N/a 103 cervical cancer cases and 417 cancer-free female subjects EFO_0001061 N/A No significance for risk Cervical cancer rs1834306-T of miR-100 and its dysfunction is not significantly associated with cervical cancer by using case-control analysis in 103 cervical cancer cases and 417 cancer-free female subjects. -0.4 A genetic variant in pre-miR-27a is associated with a reduced cervical cancer risk in southern Chinese women. case-control analysis hsa-mir-100 miRNA Cervical cancer -0.33 GTTCTCCCCA(A > G)CGTGCTTCCC chr11: 122152479 0.5471,0.4529 0.52398700305810397,0.47601299694189602 Region score:0.42; TSS score:0.47; Unmatched score:0.58; Average GERP:-2.193261089108911 GeneName:MIR100; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207994; TranscriptID:ENST00000385259; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR100HG; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000255248; TranscriptID:ENST00000534782; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003899 28334935 NONHSAT176601.1 rs73373322 C N/A 12,589 hispanic/latino individuals EFO_0006333 N/A Associate Iron status biomarkers (transferrin saturation) rs73373322-C of NONHSAT176601.1 is significantly associated with the iron status biomarkers (transferrin saturation) by using GWAS analysis in 12,589 hispanic/latino individuals(p-value = 4E-7 ;OR = 0.185). 0.4 Genome-wide association study of iron traits and relation to diabetes in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL): potential genomic intersection of iron and glucose regulation? genome-wide association analysis NONHSAT176601.1 lncRNA Transferrin saturation measurement 0.33 CCGTGGCCCT(C > T)GTGGGGTCAT chr17: 77385957 0.9357,0.0643 0.96122419724770642,0.03877580275229357 Region score:0.32; TSS score:0.27; Unmatched score:0.19; Average GERP:-0.8554623762376246 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000565062; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SEPT9; CADD-Score:2; Consquence:intron; GeneID:ENSG00000184640; TranscriptID:ENST00000427177; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003900 28277607 miR-423-5p rs1062044 A N/A 2347 colorectal cancer cases and 3390 controls EFO_0005842 N/A increasing risk colorectal cancer rs1062044-A of hsa-mir-423 and its dysfunction is significantly associated with the increasing risk of Colorectal cancer by using case-control analysis in 2347 colorectal cancer cases and 3390 controls 0.9 Identification of a functional polymorphism affecting microRNA binding in the susceptibility locus 1q25.3 for colorectal cancer. case-control analysis hsa-mir-423 miRNA Colorectal cancer 0.593 TGCATCTCCT(A > G)CCCCTCTTCC chr1: 183143277 0.4527,0.5473 0.47911888379204892,0.52088111620795107 Region score:0.31; TSS score:0.68; Unmatched score:0.74; Average GERP:1.9929603960396036 GeneName:LAMC1-AS1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000224468; TranscriptID:ENST00000457852; AnnoType:UPSTREAM; mirSVR-Score:-0.5032; mirSVR-E:-21.31 | GeneName:LAMC1; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000135862; TranscriptID:ENST00000258341; AnnoType:3PRIME_UTR; mirSVR-Score:-0.5032; mirSVR-E:-21.31 | NCRV0000003901 22658654 NONHSAT206313.1 rs959573 ? N/A 443 european ancestry cases EFO_0002508 N/A Associate Parkinson's disease (motor and cognition) rs959573-? of NONHSAT206313.1 is significantly associated with the parkinson's disease (motor and cognition) by using GWAS analysis in 443 european ancestry cases(p-value = 5E-6 ;OR = 1.92). 0.4 Genomic determinants of motor and cognitive outcomes in Parkinson's disease. genome-wide association analysis NONHSAT206313.1 lncRNA Parkinson's disease 0.33 AAACAAATTT(T > C)GTTCTATTTT chr5: 126846170 0.3153,0.6847 0.29491590214067278,0.70508409785932721 Region score:0.37; TSS score:0.27; Unmatched score:0.16; Average GERP:-0.3495039603960396 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003902 28181694 NONHSAT037380.2 rs76734026 A N/A 488 european ancestry female children//445 european ancestry male children; 245 european ancestry female children//241 european ancestry male children EFO_0007933 N/A Associate Pediatric areal bone mineral density (radius) rs76734026-A of NONHSAT037380.2 is significantly associated with the pediatric areal bone mineral density (radius) by using GWAS analysis in 488 european ancestry female children//445 european ancestry male children; 245 european ancestry female children//241 european ancestry male children(p-value = 8E-6 ;OR = 0.316646). 0.4 A Genomewide Association Study Identifies Two Sex-Specific Loci, at SPTB and IZUMO3, Influencing Pediatric Bone Mineral Density at Multiple Skeletal Sites. genome-wide association analysis NONHSAT037380.2 lncRNA Radius bone mineral density 0.33 TGGTGCAGAC(G > A)TCGTATTACC chr14: 65253861 0.8425,0.1575 0.87193393221202854,0.12806606778797145 Region score:0.39; TSS score:0.19; Unmatched score:0.29; Average GERP:0.05028712871287138 GeneName:AL355076.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000258760; TranscriptID:ENST00000553754; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003903 26634245 NONHSAT129674.2 rs1140522 T N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs1140522-T of NONHSAT129674.2 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 5E-6 ;OR = 0.044). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT129674.2 lncRNA Pulmonary function measurement 0.33 CCTCCTCCGC(C > T)GCCAGCTGCC chr8: 143924001 0.7692,0.2308 0.71624139908256880,0.28375860091743119 Region score:0.26; TSS score:0.31; Unmatched score:0.47; Average GERP:2.3628910891089103 GeneName:PLEC; CADD-Score:5; Consquence:synonymous; GeneID:ENSG00000178209; TranscriptID:ENST00000322810; AnnoType:SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003904 27951730 H19 rs2735972 T N/a 313 aml patients EFO_0000222 N/A No significance for prognosis Acute myeloid leukemia rs2735972-T of H19 and its dysfunction is not significantly associated with acute myeloid leukemia by using analysis of sequence variation in 313 AML patients. -0.4 Long non-coding RNA GAS5 polymorphism predicts a poor prognosis of acute myeloid leukemia in Chinese patients via affecting hematopoietic reconstitution. analysis of sequence variation H19 lncRNA Acute myeloid leukemia -0.33 N/A N/A N/A N/A N/A N/A NCRV0000003905 19079260 NONHSAT186578.1 rs7561317 G N/A 72,598 european ancestry individuals//1,160 african american individuals; up to 11,036 european ancestry individuals//32,615 individuals EFO_0004338 N/A Associate Weight rs7561317-G of NONHSAT186578.1 is significantly associated with the weight by using GWAS analysis in 72,598 european ancestry individuals//1,160 african american individuals; up to 11,036 european ancestry individuals//32,615 individuals(p-value = 2E-18 ;OR = 6.47). 0.4 Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity. genome-wide association analysis NONHSAT186578.1 lncRNA Body weight 0.33 ACTTCCTGTC(A > G)TCTGCCTACA chr2: 644953 0.1615,0.8385 0.18614615188583078,0.81385384811416921 Region score:0.17; TSS score:0.14; Unmatched score:0.06; Average GERP:-1.3132970297029702 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000594668; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003906 20686565 NONHSAT207180.1 rs2814982 T N/A 100,184 european ancestry individuals EFO_0000319 N/A Associate Cholesterol//total rs2814982-T of NONHSAT207180.1 is significantly associated with the cholesterol//total by using GWAS analysis in 100,184 european ancestry individuals(p-value = 5E-11 ;OR = 1.86). 0.4 Biological, clinical and population relevance of 95 loci for blood lipids. genome-wide association analysis NONHSAT207180.1 lncRNA Cardiovascular disease 0.52 GGTGAAGAGA(C > G,T)GGCCCAGAGA chr6: 34578783 0.8568,.,0.1432 0.84726204128440366,0.00001592762487257,0.15272203109072375 Region score:0.24; TSS score:0.19; Unmatched score:0.27; Average GERP:0.13774554455445545 GeneName:AL031577.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000196114; TranscriptID:ENST00000339867; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000788558; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003906 24097068 NONHSAT207180.1 rs2814982 T N/A 94,595 european ancestry individuals; 93,982 european ancestry individuals EFO_0000319 N/A Associate Cholesterol//total rs2814982-T of NONHSAT207180.1 is significantly associated with the cholesterol//total by using GWAS analysis in 94,595 european ancestry individuals; 93,982 european ancestry individuals(p-value = 4E-15 ;OR = 0.044). 0.4 Discovery and refinement of loci associated with lipid levels. genome-wide association analysis NONHSAT207180.1 lncRNA Cardiovascular disease 0.52 GGTGAAGAGA(C > G,T)GGCCCAGAGA chr6: 34578783 0.8568,.,0.1432 0.84726204128440366,0.00001592762487257,0.15272203109072375 Region score:0.24; TSS score:0.19; Unmatched score:0.27; Average GERP:0.13774554455445545 GeneName:AL031577.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000196114; TranscriptID:ENST00000339867; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000788558; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003906 28334899 NONHSAT207180.1 rs2814982 T N/A 32,576 east asian ancestry individuals//187,365 european ancestry individuals; 10,855 chinese ancestry individuals EFO_0000319 N/A Associate Total cholesterol levels rs2814982-T of NONHSAT207180.1 is significantly associated with the total cholesterol levels by using GWAS analysis in 32,576 east asian ancestry individuals//187,365 european ancestry individuals; 10,855 chinese ancestry individuals(p-value = 2E-13 ;OR = 0.0441). 0.4 Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels. genome-wide association analysis NONHSAT207180.1 lncRNA Cardiovascular disease 0.52 GGTGAAGAGA(C > G,T)GGCCCAGAGA chr6: 34578783 0.8568,.,0.1432 0.84726204128440366,0.00001592762487257,0.15272203109072375 Region score:0.24; TSS score:0.19; Unmatched score:0.27; Average GERP:0.13774554455445545 GeneName:AL031577.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000196114; TranscriptID:ENST00000339867; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000788558; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003907 22688191 NONHSAT004742.2 rs1198588 ? N/A 2,111 european ancestry cases//2,535 european ancestry controls; 11,271 european ancestry cases//14,601 european ancestry controls EFO_0000692 N/A Associate Schizophrenia rs1198588-? of NONHSAT004742.2 is significantly associated with the schizophrenia by using GWAS analysis in 2,111 european ancestry cases//2,535 european ancestry controls; 11,271 european ancestry cases//14,601 european ancestry controls(p-value = 5E-7 ;OR = 1.12). 0.4 Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder. genome-wide association analysis NONHSAT004742.2 lncRNA Schizophrenia 0.451 TGGGCTACTA(A > T)TCTCATTCAG chr1: 98087276 0.2033,0.7967 0.21046763506625891,0.78953236493374108 Region score:0.34; TSS score:0.31; Unmatched score:0.16; Average GERP:-0.21871188118811882 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003907 23974872 NONHSAT004742.2 rs1198588 T N/A 5,001 european ancestry cases//6,243 european ancestry controls//8,832 cases//12,067 controls; 4,801 european ancestry cases//4,741 european ancestry controls//2,612 european and unknown ancestry cases//15,021 european and unknown ancestry controls//581 trios EFO_0000692 N/A Associate Schizophrenia rs1198588-T of NONHSAT004742.2 is significantly associated with the schizophrenia by using GWAS analysis in 5,001 european ancestry cases//6,243 european ancestry controls//8,832 cases//12,067 controls; 4,801 european ancestry cases//4,741 european ancestry controls//2,612 european and unknown ancestry cases//15,021 european and unknown ancestry controls//581 trios(p-value = 2E-12 ;OR = 1.1249). 0.4 Genome-wide association analysis identifies 13 new risk loci for schizophrenia. genome-wide association analysis NONHSAT004742.2 lncRNA Schizophrenia 0.451 TGGGCTACTA(A > T)TCTCATTCAG chr1: 98087276 0.2033,0.7967 0.21046763506625891,0.78953236493374108 Region score:0.34; TSS score:0.31; Unmatched score:0.16; Average GERP:-0.21871188118811882 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003908 25524916 NONHSAT125262.2 rs4922265 ? N/A up to 4,176 mexican american individuals EFO_0001360 N/A Associate Glucose homeostasis traits rs4922265-? of NONHSAT125262.2 is significantly associated with the glucose homeostasis traits by using GWAS analysis in up to 4,176 mexican american individuals(p-value = 7E-6 ;OR = 2.11). 0.4 Genetic Variants Associated With Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium. genome-wide association analysis NONHSAT125262.2 lncRNA Type ii diabetes mellitus 0.33 GTTAAATGAG(C > A,G)CTTTCATAGA chr8: 17138926 0.4335,0.5665,. 0.55182052752293577,0.44814761722731906,0.00003185524974515 Region score:0.31; TSS score:0.18; Unmatched score:0.09; Average GERP:0.6688761386138615 GeneName:AC079193.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000249258; TranscriptID:ENST00000513892; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003909 27863252 NONHSAT219162.1 rs3780378 T N/A 170,536 european ancestry individuals EFO_0007996 N/A Associate Eosinophil percentage of granulocytes rs3780378-T of NONHSAT219162.1 is significantly associated with the eosinophil percentage of granulocytes by using GWAS analysis in 170,536 european ancestry individuals(p-value = 4E-11 ;OR = 0.02366018). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT219162.1 lncRNA Eosinophil percentage of granulocytes 0.33 GCCTCATGCA(C > T)ATCCATGTTG chr9: 5112288 0.4828,0.5172 0.50004778287461773,0.49995221712538226 Region score:0.35; TSS score:0.13; Unmatched score:0.37; Average GERP:-0.26690594059405937 GeneName:IGHEP2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000254017; TranscriptID:ENST00000519308; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:JAK2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000096968; TranscriptID:ENST00000381652; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MTND4P14; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000236254; TranscriptID:ENST00000435799; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MTND5P14; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000230225; TranscriptID:ENST00000441481; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TCF3P1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000236567; TranscriptID:ENST00000423021; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003910 27863252 NONHSAT220313.1 rs605642 A N/A 170,536 european ancestry individuals EFO_0007996 N/A Associate Eosinophil percentage of granulocytes rs605642-A of NONHSAT220313.1 is significantly associated with the eosinophil percentage of granulocytes by using GWAS analysis in 170,536 european ancestry individuals(p-value = 1E-14 ;OR = 0.02827073). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT220313.1 lncRNA Eosinophil percentage of granulocytes 0.33 GAAATGATGG(C > A)TTTGAAGCTG chr9: 133005082 0.5745,0.4255 0.49752325433231396,0.50247674566768603 Region score:0.28; TSS score:0.52; Unmatched score:0.34; Average GERP:-0.9401170297029703 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003911 26634245 NONHSAT066419.2 rs7937 T N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs7937-T of NONHSAT066419.2 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 7E-7 ;OR = 0.044). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT066419.2 lncRNA Pulmonary function measurement 0.33 CCTAACCATA(C > T)CCCAAGAGCT chr19: 40796801 0.5274,0.4726 0.51233594546381243,0.48766405453618756 Region score:0.44; TSS score:0.65; Unmatched score:0.84; Average GERP:2.0383069306930697 GeneName:AC008537.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000268797; TranscriptID:ENST00000601627; AnnoType:UPSTREAM; mirSVR-Score:-1.0129; mirSVR-E:-15.87 | GeneName:AC008537.4; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000282951; TranscriptID:ENST00000595728; AnnoType:NONCODING_CHANGE; mirSVR-Score:-1.0129; mirSVR-E:-15.87 | GeneName:EGLN2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000269858; TranscriptID:ENST00000593726; AnnoType:UPSTREAM; mirSVR-Score:-1.0129; mirSVR-E:-15.87 | GeneName:MIA-RAB4B; CADD-Score:2; Consquence:NMD,3_prime_UTR; GeneID:ENSG00000268975; TranscriptID:ENST00000600729; AnnoType:3PRIME_UTR; mirSVR-Score:-1.0129; mirSVR-E:-15.87 | GeneName:RAB4B; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000167578; TranscriptID:ENST00000594800; AnnoType:DOWNSTREAM; mirSVR-Score:-1.0129; mirSVR-E:-15.87 | GeneName:RAB4B-EGLN2; CADD-Score:2; Consquence:intron,NMD; GeneID:ENSG00000171570; TranscriptID:ENST00000594136; AnnoType:INTRONIC; mirSVR-Score:-1.0129; mirSVR-E:-15.87 | NCRV0000003912 26780889 NONHSAT159718.1 rs2367970 G N/A 4,383 mexican ancestry individuals; 7,876 latin american/hispanic individuals// european ancestry individuals (global lipids genetics consortium et al//2013) EFO_0000319 N/A Associate Hdl cholesterol rs2367970-G of NONHSAT159718.1 is significantly associated with the hdl cholesterol by using GWAS analysis in 4,383 mexican ancestry individuals; 7,876 latin american/hispanic individuals// european ancestry individuals (global lipids genetics consortium et al//2013)(p-value = 8E-10 ;OR = 0.097). 0.4 Meta-analysis of lipid-traits in Hispanics identifies novel loci, population-specific effects, and tissue-specific enrichment of eQTLs. genome-wide association analysis NONHSAT159718.1 lncRNA Cardiovascular disease 0.33 ACAATGGCCC(G > A)CAAATGTCAG chr11: 116710925 0.6979,0.3021 0.77699732415902140,0.22300267584097859 Region score:0.34; TSS score:0.4; Unmatched score:0.19; Average GERP:-0.23973663366336606 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003913 24413317 miR-146a rs2910164 C N/a 16399 cases and 21779 controls from seven published studies in eight common cancers EFO_0000178 N/A Decreasing risk Gastric cancer rs2910164-C of miR-146a and its dysfunction is significantly associated with the decreasing risk of gastric cancer by using meta-analysis in 16399 cases and 21779 controls from seven published studies in eight common cancers. 0.4 MicroRNA sequence polymorphisms and the risk of different types of cancer. meta-analysis hsa-mir-146a miRNA Gastric cancer 0.095 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 N/A 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003913 21073609 miR-146a rs2910164 C recessive 552 GC, and 697 non-cancer subjects EFO_0000178 N/A increasing risk gastric carcinoma rs2910164-C of hsa-mir-146a and its dysfunction is significantly associated with the increasing risk of Gastric carcinoma by using case-control analysis in 552 GC, and 697 non-cancer subjects 0.4 Association between common genetic variants in pre-microRNAs and gastric cancer risk in Japanese population. case-control analysis hsa-mir-146a miRNA Gastric carcinoma 0.095 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 0 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003913 28922434 miR-146a rs2910164 C N/a 142 gastric cancer patients and 288 age and gender matched cancer-free controls EFO_0000178 N/A No significance for risk Gastric cancer rs2910164-C of miR-146a and its dysfunction is not significantly associated with gastric cancer by using case-control analysis in 142 gastric cancer patients and 288 age and gender matched cancer-free controls. -0.4 Association of microRNA Polymorphisms with the Risk of Gastric Cancer in a Romanian Population. case-control analysis hsa-mir-146a miRNA Gastric cancer 0.095 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 N/A 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003913 26345764 miR-146a rs2910164 C N/a 8285 patients and 10,716 controls. EFO_0000178 N/A No significance for risk Gastric cancer rs2910164-C of miR-146a and its dysfunction is not significantly associated with gastric cancer by using meta-analysis in 8285 patients and 10,716 controls -0.4 Association between five common polymorphisms in microRNA genes and the risk of gastric cancer: a meta-analysis. meta-analysis hsa-mir-146a miRNA Gastric cancer 0.095 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 N/A 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003913 25326754 miR-146a rs2910164 G recessive 3,885 gastric cancer patients and 5,396 controls among Chinese EFO_0000178 N/A increasing risk gastric carcinoma rs2910164-G of hsa-mir-146a and its dysfunction is significantly associated with the increasing risk of Gastric carcinoma by using meta-analysis in 3,885 gastric cancer patients and 5,396 controls among Chinese 0.4 MiR-146a rs2910164 G/C polymorphism and gastric cancer susceptibility: a meta-analysis. meta-analysis hsa-mir-146a miRNA Gastric carcinoma 0.095 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 0 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003913 25202115 miR-146a rs2910164 T N/a 130 advanced gcs performing chemotherapy. EFO_0000178 N/A No significance for risk Advanced gastric cancers (gcs) treated by chemotherapy rs2910164-T of miR-146a and its dysfunction is not significantly associated with advanced gastric cancers (GCs) treated by chemotherapy by using case-control analysis in 130 advanced GCs performing chemotherapy -0.4 Association between common genetic variants in pre-microRNAs and prognosis of advanced gastric cancer treated with chemotherapy. case-control analysis hsa-mir-146a miRNA Gastric cancer 0.095 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 N/A 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003913 26406571 miR-146a rs2910164 C Dominant Several case-control studies EFO_0000178 N/A Decreasing risk Gastric cancer rs2910164-C of miR-146a and its dysfunction is significantly associated with the decreasing risk of gastric cancer by using meta-analysis in several case-control studies. 0.4 The association between two common polymorphisms (miR-146a rs2910164 and miR-196a2 rs11614913) and susceptibility to gastric cancer: A meta-analysis. meta-analysis hsa-mir-146a miRNA Gastric cancer 0.095 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 N/A 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003914 21399635 NONHSAT161546.1 rs6421571 C N/A 1,840 european ancestry cases//5,163 european ancestry controls and (liu et al); 620 european ancestry cases//2,514 european ancestry controls EFO_0004267 N/A Associate Primary biliary cholangitis rs6421571-C of NONHSAT161546.1 is significantly associated with the primary biliary cholangitis by using GWAS analysis in 1,840 european ancestry cases//5,163 european ancestry controls and (liu et al); 620 european ancestry cases//2,514 european ancestry controls(p-value = 3E-12 ;OR = 1.37). 0.4 Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis. genome-wide association analysis NONHSAT161546.1 lncRNA Biliary liver cirrhosis 0.33 GGTAGACTTA(T > A,C)ATGATGCATG chr11: 118873063 N/A 0.20556192660550458,0.00210244648318042,0.79233562691131498 Region score:0.4; TSS score:0.36; Unmatched score:0.09; Average GERP:-0.8742742574257427 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003915 29773352 ANRIL rs10116277 G N/A 200 atherothrombotic stroke cases and 205 controls EFO_1001976 N/A no significance for risk atherothrombotic stroke rs10116277-G of ANRIL and its dysfunction is not significantly associated with Cardioembolic stroke by using case-control analysis in 200 atherothrombotic stroke cases and 205 controls -0.4 The ANRIL Genetic Variants and Their Interactions with Environmental Risk Factors on Atherothrombotic Stroke in a Han Chinese Population. case-control analysis ANRIL lncRNA Cardioembolic stroke -0.33 CAGAGTGTAG(G > T)AGATTTATGA chr9: 22081398 0.3235,0.6765 0.36345247196738022,0.63654752803261977 Region score:0.27; TSS score:0.14; Unmatched score:0.02; Average GERP:0.3156138613861386 GeneName:CDKN2B-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000240498; TranscriptID:ENST00000428597; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003916 26631737 NONHSAT007069.2 rs3795324 A N/A up to 54,116 european ancestry cases HP_0012594 N/A Associate Microalbuminuria rs3795324-A of NONHSAT007069.2 is significantly associated with the microalbuminuria by using GWAS analysis in up to 54,116 european ancestry cases(p-value = 9E-7 ;OR = 0.15). 0.4 Genome-wide Association Studies Identify Genetic Loci Associated With Albuminuria in Diabetes. genome-wide association analysis NONHSAT007069.2 lncRNA Microalbuminuria 0.33 CTAGTTCCAG(A > C)TTCTCAAATC chr1: 160673321 0.6761,0.3239 0.71014111875637104,0.28985888124362895 Region score:0.56; TSS score:0.5; Unmatched score:0.86; Average GERP:-0.2620188118811881 GeneName:AL121985.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000228863; TranscriptID:ENST00000628340; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000374885; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SETP9; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000235101; TranscriptID:ENST00000423837; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003917 19656524 NONHSAT218889.1 rs987525 ? N/A 111 european ancestry cases//5,951 european ancestry controls MONDO_0000358 N/A Associate Orofacial clefts rs987525-? of NONHSAT218889.1 is significantly associated with the orofacial clefts by using GWAS analysis in 111 european ancestry cases//5,951 european ancestry controls(p-value = 9E-8 ;OR = 2.09). 0.4 A genome-wide association study identifies a locus for nonsyndromic cleft lip with or without cleft palate on 8q24. genome-wide association analysis NONHSAT218889.1 lncRNA Orofacial cleft 0.52 ATTTTAGTCT(C > A)AAAGTGTGAC chr8: 128933908 0.7121,0.2879 0.68380479102956167,0.31619520897043832 Region score:0.33; TSS score:0.16; Unmatched score:0.02; Average GERP:-0.47641584158415845 GeneName:CCDC26; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000229140; TranscriptID:ENST00000643616; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003917 22863734 NONHSAT218889.1 rs987525 A N/A up to 666 european ancestry trios//399 european ancestry cases//1,318 european ancestry controls; up to 795 east asian ancestry trios MONDO_0000358 N/A Associate Orofacial clefts rs987525-A of NONHSAT218889.1 is significantly associated with the orofacial clefts by using GWAS analysis in up to 666 european ancestry trios//399 european ancestry cases//1,318 european ancestry controls; up to 795 east asian ancestry trios(p-value = 1E-26 ;OR = ?). 0.4 Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci. genome-wide association analysis NONHSAT218889.1 lncRNA Orofacial cleft 0.52 ATTTTAGTCT(C > A)AAAGTGTGAC chr8: 128933908 0.7121,0.2879 0.68380479102956167,0.31619520897043832 Region score:0.33; TSS score:0.16; Unmatched score:0.02; Average GERP:-0.47641584158415845 GeneName:CCDC26; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000229140; TranscriptID:ENST00000643616; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003917 19270707 NONHSAT218889.1 rs987525 A N/A 224 european ancestry cases//383 european ancestry controls; 246 cases//954 controls MONDO_0000358 N/A Associate Orofacial clefts rs987525-A of NONHSAT218889.1 is significantly associated with the orofacial clefts by using GWAS analysis in 224 european ancestry cases//383 european ancestry controls; 246 cases//954 controls(p-value = 3E-24 ;OR = 2.57). 0.4 Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24. genome-wide association analysis NONHSAT218889.1 lncRNA Orofacial cleft 0.52 ATTTTAGTCT(C > A)AAAGTGTGAC chr8: 128933908 0.7121,0.2879 0.68380479102956167,0.31619520897043832 Region score:0.33; TSS score:0.16; Unmatched score:0.02; Average GERP:-0.47641584158415845 GeneName:CCDC26; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000229140; TranscriptID:ENST00000643616; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003918 27082954 NONHSAT096090.2 rs3755899 G N/A 104 european ancestry cases//1,519 european ancestry controls//34 african american cases//520 african american controls EFO_0004265 traffic-related air pollution interaction Associate Peripheral arterial disease (traffic-related air pollution interaction) rs3755899-G of NONHSAT096090.2 is significantly associated with the peripheral arterial disease (traffic-related air pollution interaction) by using GWAS analysis in 104 european ancestry cases//1,519 european ancestry controls//34 african american cases//520 african american controls(p-value = 2E-8 ;OR = 1789.83). 0.4 Genetic Variants in the Bone Morphogenic Protein Gene Family Modify the Association between Residential Exposure to Traffic and Peripheral Arterial Disease. genome-wide association analysis NONHSAT096090.2 lncRNA Peripheral arterial disease 0.33 CGAGGCCCCG(G > A)GGTCAACCGC chr4: 39528080 0.8964,0.1036 0.92955211518858307,0.07044788481141692 Region score:0.51; TSS score:0.46; Unmatched score:0.95; Average GERP:-0.5371188118811884 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000167632; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000721933; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:UGDH-AS1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000249348; TranscriptID:ENST00000504032; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:UGDH; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000109814; TranscriptID:ENST00000316423; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003919 24315451 NONHSAT052350.2 rs3751972 C N/A 5,131 european ancestry individuals//1,155 hispanic individuals//2,572 individuals EFO_0005536 N/A Associate Fractional exhaled nitric oxide (childhood) rs3751972-C of NONHSAT052350.2 is significantly associated with the fractional exhaled nitric oxide (childhood) by using GWAS analysis in 5,131 european ancestry individuals//1,155 hispanic individuals//2,572 individuals(p-value = 2E-10 ;OR = 0.086). 0.4 Fraction of exhaled nitric oxide values in childhood are associated with 17q11.2-q12 and 17q12-q21 variants. genome-wide association analysis NONHSAT052350.2 lncRNA Nitric oxide exhalation measurement 0.33 AGGCCAATGG(C > A)TCTTCCAAAC chr17: 27879388 0.2139,0.7861 0.20952790519877675,0.79047209480122324 Region score:0.43; TSS score:0.65; Unmatched score:0.79; Average GERP:-0.45512871287128703 GeneName:AC005697.1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000266202; TranscriptID:ENST00000582441; AnnoType:INTRONIC; mirSVR-Score:-0.3186; mirSVR-E:-14.74 | GeneName:AC005697.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000266527; TranscriptID:ENST00000581901; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.3186; mirSVR-E:-14.74 | GeneName:LYRM9; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000232859; TranscriptID:ENST00000379103; AnnoType:3PRIME_UTR; mirSVR-Score:-0.3186; mirSVR-E:-14.74 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000282958; AnnoType:REGULATORY; mirSVR-Score:-0.3186; mirSVR-E:-14.74 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000552348; AnnoType:REGULATORY; mirSVR-Score:-0.3186; mirSVR-E:-14.74 | NCRV0000003920 25241763 NONHSAT190055.1 rs6054374 T N/A 18,963 european ancestry individuals//2,131 erasmus rucphen individuals; 2,453 chinese ancestry individuals//2,026 indian ancestry individuals//2,305 malay ancestry individuals EFO_0004832 N/A Associate Vertical cup-disc ratio rs6054374-T of NONHSAT190055.1 is significantly associated with the vertical cup-disc ratio by using GWAS analysis in 18,963 european ancestry individuals//2,131 erasmus rucphen individuals; 2,453 chinese ancestry individuals//2,026 indian ancestry individuals//2,305 malay ancestry individuals(p-value = 2E-7 ;OR = 0.007). 0.4 Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process. genome-wide association analysis NONHSAT190055.1 lncRNA Optic disc size measurement 0.33 TATATATAGA(C > T)TGACCTCCAA chr20: 6597909 0.5058,0.4942 0.54677943425076452,0.45322056574923547 Region score:0.28; TSS score:0.17; Unmatched score:0.07; Average GERP:-0.11964376237623768 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000644367; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003921 21732829 NONHSAT193287.1 rs6519955 A N/A 856 european ancestry cases//2,836 european ancestry controls; 1,298 european ancestry cases//7,136 european ancestry controls EFO_0004229 N/A Associate Dupuytren's disease rs6519955-A of NONHSAT193287.1 is significantly associated with the dupuytren's disease by using GWAS analysis in 856 european ancestry cases//2,836 european ancestry controls; 1,298 european ancestry cases//7,136 european ancestry controls(p-value = 3E-33 ;OR = 1.54). 0.4 Wnt signaling and Dupuytren's disease. genome-wide association analysis NONHSAT193287.1 lncRNA Dupuytren contracture 0.33 CACCATCTGT(G > T)TCCTTATCTT chr22: 46025962 0.5457,0.4543 0.50103529561671763,0.49896470438328236 Region score:0.46; TSS score:0.32; Unmatched score:0.18; Average GERP:-0.49749138613861427 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003922 28334899 NONHSAT210564.1 rs2239619 A N/A 32,576 east asian ancestry individuals//187,365 european ancestry individuals; 10,855 chinese ancestry individuals EFO_0000319 N/A Associate Total cholesterol levels rs2239619-A of NONHSAT210564.1 is significantly associated with the total cholesterol levels by using GWAS analysis in 32,576 east asian ancestry individuals//187,365 european ancestry individuals; 10,855 chinese ancestry individuals(p-value = 3E-8 ;OR = 0.0186). 0.4 Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels. genome-wide association analysis NONHSAT210564.1 lncRNA Cardiovascular disease 0.33 AAAAGAGGAG(C > A)GGGAGTTGAT chr6: 52588422 0.3758,0.6242 0.39313360091743119,0.60686639908256880 Region score:0.41; TSS score:0.62; Unmatched score:0.39; Average GERP:0.7623039603960396 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000792844; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TRAM2-AS1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000225791; TranscriptID:ENST00000606714; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003923 28240269 NONHSAT162404.1 rs1800973 A N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0008216 N/A Associate Blood protein levels rs1800973-A of NONHSAT162404.1 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 2E-29 ;OR = 0.9525). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. genome-wide association analysis NONHSAT162404.1 lncRNA Lysozyme c measurement 0.33 GATGGCAAAA(C > A)CCCAGGAGCA chr12: 69350234 0.9854,0.01458 0.95797496177370030,0.04202503822629969 Region score:0.32; TSS score:0.4; Unmatched score:0.47; Average GERP:1.9191316831683143 GeneName:AC020656.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000257764; TranscriptID:ENST00000548900; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LYZ; CADD-Score:7; Consquence:missense; GeneID:ENSG00000090382; TranscriptID:ENST00000261267; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000053735; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003924 27863252 NONHSAT010798.2 rs1339847 A N/A 164,454 european ancestry individuals EFO_0004584 N/A Associate Mean platelet volume rs1339847-A of NONHSAT010798.2 is significantly associated with the mean platelet volume by using GWAS analysis in 164,454 european ancestry individuals(p-value = 4E-48 ;OR = 0.08377635). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT010798.2 lncRNA Mean platelet volume 0.33 ATGGAGGGAT(G > A)TCCCCAACAA chr1: 247875992 0.874,0.126 0.89311767329255861,0.10688232670744138 Region score:0.53; TSS score:0.57; Unmatched score:0.67; Average GERP:1.2182661386138613 GeneName:TRIM58; CADD-Score:7; Consquence:missense; GeneID:ENSG00000162722; TranscriptID:ENST00000366481; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003925 25673412 NONHSAT168677.1 rs17109256 A N/A up to 56,910 european ancestry men//up to 86,570 european ancestry women; up to 36,570 european ancestry men//30,172 european ancestry women//915 filipino ancestry men//735 filipino ancestry women//2,351 african american/afro-caribbean ancestry men//6,258 african american/afro-caribbean ancestry women//2,285 south asian ancestry men//506 south asian ancestry women//195 seychellois ancestry men//266 seychellois ancestry women EFO_0004343 N/A Associate Waist-hip ratio rs17109256-A of NONHSAT168677.1 is significantly associated with the waist-hip ratio by using GWAS analysis in up to 56,910 european ancestry men//up to 86,570 european ancestry women; up to 36,570 european ancestry men//30,172 european ancestry women//915 filipino ancestry men//735 filipino ancestry women//2,351 african american/afro-caribbean ancestry men//6,258 african american/afro-caribbean ancestry women//2,285 south asian ancestry men//506 south asian ancestry women//195 seychellois ancestry men//266 seychellois ancestry women(p-value = 3E-8 ;OR = 0.0227). 0.4 New genetic loci link adipose and insulin biology to body fat distribution. genome-wide association analysis NONHSAT168677.1 lncRNA Waist-hip ratio 0.33 AAAAAGGAAC(G > A)AACAAGAAAA chr14: 79473650 0.8506,0.1494 0.79936767329255861,0.20063232670744138 Region score:0.39; TSS score:0.34; Unmatched score:0.2; Average GERP:1.908280198019802 GeneName:NRXN3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000021645; TranscriptID:ENST00000635466; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003926 26805933 mir-146a rs2910164 G N/a 1378 idiopathic infertile males and 486 fertile controls in chinese han population Orphanet_399980 N/A No significance for risk Idiopathic male infertility rs2910164-G of mir-146a and its dysfunction is not significantly associated with idiopathic male infertility by using case-control analysis in 1378 idiopathic infertile males and 486 fertile controls in Chinese Han population. -0.4 Common SNP in hsa-miR-196a-2 increases hsa-miR-196a-5p expression and predisposes to idiopathic male infertility in Chinese Han population. case-control analysis hsa-mir-146a miRNA Rare genetic male infertility -0.33 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 N/A 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003927 23975664 mir-27a rs895819 ? Dominant 674 advanced gastric cancer patients received 5-fluorouracil (F), leucovorin (L), oxaliplatin (O) or FL + cisplatin (P) or additional docetaxel (T) to FLO (FLOT) within four clinical trials EFO_0000178 N/A poor prognosis gastric carcinoma rs895819-? of hsa-mir-27a and its dysfunction is significantly associated with the poor prognosis of Gastric carcinoma by using case-control analysis in 674 advanced gastric cancer patients received 5-fluorouracil (F), leucovorin (L), oxaliplatin (O) or FL + cisplatin (P) or additional docetaxel (T) to FLO (FLOT) within four clinical trials 0.4 Prognostic role of microRNA polymorphisms in advanced gastric cancer: a translational study of the Arbeitsgemeinschaft Internistische Onkologie (AIO). case-control analysis hsa-mir-27a miRNA Gastric carcinoma 0.607 CACGACTTGG(T > C)GTGGACCCTG chr19: 13836478 0.6362,0.3638 0.63091711264016309,0.36908288735983690 Region score:0.57; TSS score:0.41; Unmatched score:0.75; Average GERP:2.158386138613861 GeneName:AC020916.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000267519; TranscriptID:ENST00000587762; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR23A; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207980; TranscriptID:ENST00000385245; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR24-2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284387; TranscriptID:ENST00000386972; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR27A; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207808; TranscriptID:ENST00000385073; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000107447; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ZSWIM4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000132003; TranscriptID:ENST00000254323; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003927 28922434 miR-27a rs895819 C Recessive 142 gastric cancer patients and 288 age and gender matched cancer-free controls EFO_0000178 N/A Increasing risk Gastric cancer rs895819-C of miR-27a and its dysfunction is significantly associated with the increasing risk of gastric cancer by using case-control analysis in 142 gastric cancer patients and 288 age and gender matched cancer-free controls. 0.4 Association of microRNA Polymorphisms with the Risk of Gastric Cancer in a Romanian Population. case-control analysis hsa-mir-27a miRNA Gastric cancer 0.607 CACGACTTGG(T > C)GTGGACCCTG chr19: 13836478 0.6362,0.3638 0.63091711264016309,0.36908288735983690 Region score:0.57; TSS score:0.41; Unmatched score:0.75; Average GERP:2.158386138613861 GeneName:AC020916.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000267519; TranscriptID:ENST00000587762; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR23A; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207980; TranscriptID:ENST00000385245; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR24-2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284387; TranscriptID:ENST00000386972; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR27A; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207808; TranscriptID:ENST00000385073; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000107447; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ZSWIM4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000132003; TranscriptID:ENST00000254323; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003927 26345764 miRNA-27a rs895819 G N/a 8285 patients and 10,716 controls. EFO_0000178 N/A No significance for risk Gastric cancer rs895819-G of miRNA-27a and its dysfunction is not significantly associated with gastric cancer by using meta-analysis in 8285 patients and 10,716 controls -0.4 Association between five common polymorphisms in microRNA genes and the risk of gastric cancer: a meta-analysis. meta-analysis hsa-mir-27a miRNA Gastric cancer 0.607 CACGACTTGG(T > C)GTGGACCCTG chr19: 13836478 0.6362,0.3638 0.63091711264016309,0.36908288735983690 Region score:0.57; TSS score:0.41; Unmatched score:0.75; Average GERP:2.158386138613861 GeneName:AC020916.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000267519; TranscriptID:ENST00000587762; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR23A; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207980; TranscriptID:ENST00000385245; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR24-2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284387; TranscriptID:ENST00000386972; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR27A; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207808; TranscriptID:ENST00000385073; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000107447; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ZSWIM4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000132003; TranscriptID:ENST00000254323; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003927 20666778 hsa-mir-27a rs895819 G N/a 304 gastric cancer cases and 304 cancer-free controls EFO_0000178 N/A Increasing risk Gastric cancer rs895819-G of hsa-mir-27a and its dysfunction is significantly associated with the increasing risk of gastric cancer by using case-control analysis in 304 gastric cancer cases and 304 cancer-free controls. By using the disease cell lines or tissues, the mutation of hsa-mir-27a has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 Hsa-mir-27a genetic variant contributes to gastric cancer susceptibility through affecting miR-27a and target gene expression. case-control analysis; Function hsa-mir-27a miRNA Gastric cancer 0.607 CACGACTTGG(T > C)GTGGACCCTG chr19: 13836478 0.6362,0.3638 0.63091711264016309,0.36908288735983690 Region score:0.57; TSS score:0.41; Unmatched score:0.75; Average GERP:2.158386138613861 GeneName:AC020916.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000267519; TranscriptID:ENST00000587762; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR23A; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207980; TranscriptID:ENST00000385245; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR24-2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284387; TranscriptID:ENST00000386972; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR27A; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207808; TranscriptID:ENST00000385073; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000107447; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ZSWIM4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000132003; TranscriptID:ENST00000254323; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003927 22350505 miR-27a rs895819 C Dominant 311 gastric cancers and 425 cancer-free controls EFO_0000178 N/A Decreasing risk Gastric cancer rs895819-C of miR-27a and its dysfunction is significantly associated with the decreasing risk of gastric cancer by using case-control analysis in 311 gastric cancers and 425 cancer-free controls. 0.4 Association analysis of genetic variants in microRNA networks and gastric cancer risk in a Chinese Han population. case-control analysis hsa-mir-27a miRNA Gastric cancer 0.607 CACGACTTGG(T > C)GTGGACCCTG chr19: 13836478 0.6362,0.3638 0.63091711264016309,0.36908288735983690 Region score:0.57; TSS score:0.41; Unmatched score:0.75; Average GERP:2.158386138613861 GeneName:AC020916.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000267519; TranscriptID:ENST00000587762; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR23A; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207980; TranscriptID:ENST00000385245; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR24-2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284387; TranscriptID:ENST00000386972; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR27A; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207808; TranscriptID:ENST00000385073; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000107447; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ZSWIM4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000132003; TranscriptID:ENST00000254323; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003928 23453885 NONHSAT172650.1 rs12325410 T N/A 6,990 european ancestry bipolar disorder cases//9,227 european ancestry major depressive disorder cases//9,379 european ancestry schizophrenia cases//161 european ancestry autism spectrum disorder cases//4,788 european ancestry autism spectrum disorder trio cases//840 european ancestry attention deficit-hyperactivity disorder cases//1,947 european ancestry attention defcit-hyperactivity disorder trio cases//27,888 european ancestry controls EFO_0000677 N/A Associate Autism spectrum disorder//attention deficit-hyperactivity disorder//bipolar disorder//major depressive disorder//and schizophrenia (combined) rs12325410-T of NONHSAT172650.1 is significantly associated with the autism spectrum disorder//attention deficit-hyperactivity disorder//bipolar disorder//major depressive disorder//and schizophrenia (combined) by using GWAS analysis in 6,990 european ancestry bipolar disorder cases//9,227 european ancestry major depressive disorder cases//9,379 european ancestry schizophrenia cases//161 european ancestry autism spectrum disorder cases//4,788 european ancestry autism spectrum disorder trio cases//840 european ancestry attention deficit-hyperactivity disorder cases//1,947 european ancestry attention defcit-hyperactivity disorder trio cases//27,888 european ancestry controls(p-value = 1E-6 ;OR = 1.09). 0.4 Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis. genome-wide association analysis NONHSAT172650.1 lncRNA Mental or behavioural disorder 0.33 TCTCTCACTG(T > G)CAAAACGCAA chr16: 9581389 0.7784,0.2216 0.82020100662589194,0.17979899337410805 Region score:0.26; TSS score:0.42; Unmatched score:0.12; Average GERP:-0.6896930693069306 GeneName:AC007221.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000283003; TranscriptID:ENST00000634367; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003929 24390342 NONHSAT186781.1 rs10175798 A N/A up to 14,361 european ancestry cases//up to 42,923 european ancestry controls//up to 4,873 east asian ancestry cases//up to 17,642 east asian ancestry controls; up to 3,775 european ancestry cases//up to 5,801 european ancestry controls//up to 6,871 east asian ancestry cases//up to 6,392 east asian ancestry controls EFO_0000685 N/A Associate Rheumatoid arthritis rs10175798-A of NONHSAT186781.1 is significantly associated with the rheumatoid arthritis by using GWAS analysis in up to 14,361 european ancestry cases//up to 42,923 european ancestry controls//up to 4,873 east asian ancestry cases//up to 17,642 east asian ancestry controls; up to 3,775 european ancestry cases//up to 5,801 european ancestry controls//up to 6,871 east asian ancestry cases//up to 6,392 east asian ancestry controls(p-value = 1E-9 ;OR = 1.08). 0.4 Genetics of rheumatoid arthritis contributes to biology and drug discovery. genome-wide association analysis NONHSAT186781.1 lncRNA Rheumatoid arthritis 0.33 GAGTTTCACC(G > A)AAAAATTGGC chr2: 30226728 0.5575,0.4425 0.49509429153924566,0.50490570846075433 Region score:0.46; TSS score:0.58; Unmatched score:0.51; Average GERP:2.5455465346534663 GeneName:LBH; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000213626; TranscriptID:ENST00000395323; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003930 25102180 NONHSAT017523.2 rs231356 T N/A 8,284 african american cases//15,543 african american controls; 6,061 african american cases//5,483 african american controls//8,130 european ancestry cases//38,987 european ancestry controls EFO_0001360 N/A Associate Type 2 diabetes rs231356-T of NONHSAT017523.2 is significantly associated with the type 2 diabetes by using GWAS analysis in 8,284 african american cases//15,543 african american controls; 6,061 african american cases//5,483 african american controls//8,130 european ancestry cases//38,987 european ancestry controls(p-value = 4E-8 ;OR = 1.09). 0.4 Meta-analysis of genome-wide association studies in African Americans provides insights into the genetic architecture of type 2 diabetes. genome-wide association analysis NONHSAT017523.2 lncRNA Type ii diabetes mellitus 0.33 TTTCACATAG(A > G,T)TTCTTAAGGG chr11: 2684113 0.5633,.,0.4367 0.67982288481141692,0.00044597349643221,0.31973114169215086 Region score:0.22; TSS score:0.21; Unmatched score:0.29; Average GERP:-0.5845128712871287 GeneName:KCNQ1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000053918; TranscriptID:ENST00000155840; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:KCNQ1OT1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000269821; TranscriptID:ENST00000597346; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003931 26997512 miR-146a rs2910164 C Dominant 890 participants had dn (168 with t1dm and 722 with t2dm), 731 had pdr (251 with t1dm and 480 with t2dm) and 1026 had dme (170 with t1dm and 856 with t2dm) EFO_0004996 N/A Increasing risk Type 1 (t1dm) diabetes mellitus with diabetic nephropathy rs2910164-C of miR-146a and its dysfunction is significantly associated with the increasing risk of type 1 (T1DM) diabetes mellitus with diabetic nephropathy by using case-control analysis in 890 participants had DN (168 with T1DM and 722 with T2DM), 731 had PDR (251 with T1DM and 480 with T2DM) and 1026 had DME (170 with T1DM and 856 with T2DM). 0.4 A single-nucleotide polymorphism in the MicroRNA-146a gene is associated with diabetic nephropathy and sight-threatening diabetic retinopathy in Caucasian patients. case-control analysis hsa-mir-146a miRNA Type 1 diabetes nephropathy 0.33 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 N/A 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003932 27863252 NONHSAT200257.1 rs7679673 A N/A 169,219 european ancestry individuals EFO_0007988 N/A Associate Myeloid white cell count rs7679673-A of NONHSAT200257.1 is significantly associated with the myeloid white cell count by using GWAS analysis in 169,219 european ancestry individuals(p-value = 3E-10 ;OR = 0.0233218). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT200257.1 lncRNA Myeloid white cell count 0.33 ATTTTTGACA(C > A)AACTCTATCA chr4: 105140377 0.4083,0.5917 0.48941609327217125,0.51058390672782874 Region score:0.14; TSS score:0.18; Unmatched score:0.43; Average GERP:-0.9553586138613857 GeneName:AC004069.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000251259; TranscriptID:ENST00000504082; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000171428; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003933 29071344 NONHSAT185675.1 rs13031275 C N/A 3,041 african american individuals//1,618 european ancestry individuals; 1,612 african american individuals//1,551 european ancestry individuals EFO_0003829 N/A Associate Major depression and alcohol dependence rs13031275-C of NONHSAT185675.1 is significantly associated with the major depression and alcohol dependence by using GWAS analysis in 3,041 african american individuals//1,618 european ancestry individuals; 1,612 african american individuals//1,551 european ancestry individuals(p-value = 5E-6 ;OR = 1.032). 0.4 Genetic Risk Variants Associated With Comorbid Alcohol Dependence and Major Depression. genome-wide association analysis NONHSAT185675.1 lncRNA Alcohol dependence 0.33 CTCCAGCAGT(A > C)GATGGATGAG chr2: 151489980 0.9832,0.01677 0.95985442150866462,0.04014557849133537 Region score:0.2; TSS score:0.22; Unmatched score:0.32; Average GERP:1.9031871287128714 GeneName:NEB; CADD-Score:5; Consquence:synonymous; GeneID:ENSG00000183091; TranscriptID:ENST00000618972; AnnoType:SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RIF1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000080345; TranscriptID:ENST00000457745; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003934 20834067 NONHSAT165172.1 rs6489785 ? N/A 1,173 individuals EFO_0004300 N/A Associate Longevity rs6489785-? of NONHSAT165172.1 is significantly associated with the longevity by using GWAS analysis in 1,173 individuals(p-value = 1E-6 ;OR = ?). 0.4 Joint influence of small-effect genetic variants on human longevity. genome-wide association analysis NONHSAT165172.1 lncRNA Longevity 0.33 TGATCACAAG(T > C)CCCGATTTTC chr12: 120925921 0.2224,0.7776 0.30761021916411824,0.69238978083588175 Region score:0.14; TSS score:0.36; Unmatched score:0.29; Average GERP:-1.3251861386138613 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003935 23251661 NONHSAT056871.2 rs1893154 A N/A 815 hispanic children from 263 families EFO_0004612 N/A Associate Obesity-related traits rs1893154-A of NONHSAT056871.2 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 3E-6 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. genome-wide association analysis NONHSAT056871.2 lncRNA High density lipoprotein cholesterol measurement 0.33 TTCGCTTGGC(A > G)TCGCGTCAGG chr18: 905124 0.2462,0.7538 0.28050140163098878,0.71949859836901121 Region score:0.46; TSS score:0.59; Unmatched score:0.95; Average GERP:0.06344158415841585 GeneName:ADCYAP1; CADD-Score:3; Consquence:5_prime_UTR; GeneID:ENSG00000141433; TranscriptID:ENST00000579794; AnnoType:5PRIME_UTR; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AP000894.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000265179; TranscriptID:ENST00000581719; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AP000894.3; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000265671; TranscriptID:ENST00000582554; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000567364; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003936 27863252 NONHSAT197521.1 rs4328821 G N/A 172,275 european ancestry individuals EFO_0004842 N/A Associate Eosinophil counts rs4328821-G of NONHSAT197521.1 is significantly associated with the eosinophil counts by using GWAS analysis in 172,275 european ancestry individuals(p-value = 4E-115 ;OR = 0.1308034). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT197521.1 lncRNA Eosinophil count 0.52 CGTGCACCCA(A > G)TTTTAGAGAT chr3: 128597592 0.8073,0.1927 0.85647617227319062,0.14352382772680937 Region score:0.21; TSS score:0.16; Unmatched score:0.03; Average GERP:0.03414851485148518 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003936 21738478 NONHSAT197521.1 rs4328821 A N/A 8,794 japanese ancestry individuals; 5,998 japanese ancestry individuals EFO_0004842 N/A Associate White blood cell types rs4328821-A of NONHSAT197521.1 is significantly associated with the white blood cell types by using GWAS analysis in 8,794 japanese ancestry individuals; 5,998 japanese ancestry individuals(p-value = 3E-17 ;OR = 0.103). 0.4 Identification of nine novel loci associated with white blood cell subtypes in a Japanese population. genome-wide association analysis NONHSAT197521.1 lncRNA Eosinophil count 0.52 CGTGCACCCA(A > G)TTTTAGAGAT chr3: 128597592 0.8073,0.1927 0.85647617227319062,0.14352382772680937 Region score:0.21; TSS score:0.16; Unmatched score:0.03; Average GERP:0.03414851485148518 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003936 28158719 NONHSAT197521.1 rs4328821 A N/A up to 11,809 hispanic/latino american individuals; up to 7,200 hispanic/latino american individuals EFO_0004842 N/A Associate White blood cell count (eosinophil) rs4328821-A of NONHSAT197521.1 is significantly associated with the white blood cell count (eosinophil) by using GWAS analysis in up to 11,809 hispanic/latino american individuals; up to 7,200 hispanic/latino american individuals(p-value = 1E-8 ;OR = 0.06). 0.4 Genome-wide association of white blood cell counts in Hispanic/Latino Americans: the Hispanic Community Health Study/Study of Latinos. genome-wide association analysis NONHSAT197521.1 lncRNA Eosinophil count 0.52 CGTGCACCCA(A > G)TTTTAGAGAT chr3: 128597592 0.8073,0.1927 0.85647617227319062,0.14352382772680937 Region score:0.21; TSS score:0.16; Unmatched score:0.03; Average GERP:0.03414851485148518 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003937 25201988 NONHSAT122572.2 rs4073894 A N/A 106,736 european ancestry individuals EFO_0004784 N/A Associate Educational attainment rs4073894-A of NONHSAT122572.2 is significantly associated with the educational attainment by using GWAS analysis in 106,736 european ancestry individuals(p-value = 9E-6 ;OR = 0.024). 0.4 Common genetic variants associated with cognitive performance identified using the proxy-phenotype method. genome-wide association analysis NONHSAT122572.2 lncRNA Self reported educational attainment 0.451 TGAAAGTAAC(G > A)ATAAGAACAG chr7: 104826517 0.8858,0.1142 0.83419342507645259,0.16580657492354740 Region score:0.51; TSS score:0.1; Unmatched score:0.37; Average GERP:-0.052579405940594064 GeneName:AC091286.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000237606; TranscriptID:ENST00000431233; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LHFPL3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000187416; TranscriptID:ENST00000424859; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003937 23722424 NONHSAT122572.2 rs4073894 A N/A up to 101,069 european ancestry individuals; 25,490 european ancestry individuals EFO_0004784 N/A Associate Educational attainment rs4073894-A of NONHSAT122572.2 is significantly associated with the educational attainment by using GWAS analysis in up to 101,069 european ancestry individuals; 25,490 european ancestry individuals(p-value = 6E-6 ;OR = 1.062). 0.4 GWAS of 126,559 individuals identifies genetic variants associated with educational attainment. genome-wide association analysis NONHSAT122572.2 lncRNA Self reported educational attainment 0.451 TGAAAGTAAC(G > A)ATAAGAACAG chr7: 104826517 0.8858,0.1142 0.83419342507645259,0.16580657492354740 Region score:0.51; TSS score:0.1; Unmatched score:0.37; Average GERP:-0.052579405940594064 GeneName:AC091286.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000237606; TranscriptID:ENST00000431233; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LHFPL3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000187416; TranscriptID:ENST00000424859; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003938 21323541 NONHSAT207117.1 rs652888 C N/A 556 european ancestry cases//2,338 european ancestry controls EFO_0004254 N/A Associate Idiopathic membranous nephropathy rs652888-C of NONHSAT207117.1 is significantly associated with the idiopathic membranous nephropathy by using GWAS analysis in 556 european ancestry cases//2,338 european ancestry controls(p-value = 3E-46 ;OR = 2.71). 0.4 Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy. genome-wide association analysis NONHSAT207117.1 lncRNA Membranous glomerulonephritis 0.33 GAGGAGGCAG(A > G)GGTCAGCTCA chr6: 31883457 0.7857,0.2143 0.79522649082568807,0.20477350917431192 Region score:0.31; TSS score:0.06; Unmatched score:0.28; Average GERP:0.5498247524752475 GeneName:EHMT2-AS1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000237080; TranscriptID:ENST00000642849; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:EHMT2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000204371; TranscriptID:ENST00000375528; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SLC44A4; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000204385; TranscriptID:ENST00000229729; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003939 19578364 NONHSAT192354.1 rs2284063 ? N/A 1,539 european ancestry cases//3,917 european ancestry controls; 2,312 european ancestry cases//1,867 european ancestry controls EFO_0000756 N/A Associate Melanoma rs2284063-? of NONHSAT192354.1 is significantly associated with the melanoma by using GWAS analysis in 1,539 european ancestry cases//3,917 european ancestry controls; 2,312 european ancestry cases//1,867 european ancestry controls(p-value = 2E-9 ;OR = 1.2). 0.4 Genome-wide association study identifies three loci associated with melanoma risk. genome-wide association analysis NONHSAT192354.1 lncRNA Melanoma 0.451 AAAGGAAAGG(A > G)TAGCGAATGG chr22: 38148291 0.5817,0.4183 0.60313137104994903,0.39686862895005096 Region score:0.3; TSS score:0.23; Unmatched score:0.15; Average GERP:0.16747841584158418 GeneName:AL022322.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000279080; TranscriptID:ENST00000624072; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PLA2G6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000184381; TranscriptID:ENST00000332509; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003939 28212542 NONHSAT192354.1 rs2284063 ? N/A 4,842 european ancestry cases//286,565 european ancestry controls; 1,804 european ancestry cases//1,026 european ancestry controls EFO_0000756 N/A Associate Melanoma rs2284063-? of NONHSAT192354.1 is significantly associated with the melanoma by using GWAS analysis in 4,842 european ancestry cases//286,565 european ancestry controls; 1,804 european ancestry cases//1,026 european ancestry controls(p-value = 2E-9 ;OR = 1.2048193). 0.4 Two-stage genome-wide association study identifies a novel susceptibility locus associated with melanoma. genome-wide association analysis NONHSAT192354.1 lncRNA Melanoma 0.451 AAAGGAAAGG(A > G)TAGCGAATGG chr22: 38148291 0.5817,0.4183 0.60313137104994903,0.39686862895005096 Region score:0.3; TSS score:0.23; Unmatched score:0.15; Average GERP:0.16747841584158418 GeneName:AL022322.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000279080; TranscriptID:ENST00000624072; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PLA2G6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000184381; TranscriptID:ENST00000332509; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003940 25918132 NONHSAT220450.1 rs117260909 C N/A 74 european ancestry cases//824 european ancestry controls EFO_0000270 N/A Associate Diisocyanate-induced asthma rs117260909-C of NONHSAT220450.1 is significantly associated with the diisocyanate-induced asthma by using GWAS analysis in 74 european ancestry cases//824 european ancestry controls(p-value = 7E-6 ;OR = 7.69). 0.4 Genome-Wide Association Study Identifies Novel Loci Associated With Diisocyanate-Induced Occupational Asthma. genome-wide association analysis NONHSAT220450.1 lncRNA Asthma 0.33 GGAAAACAAA(G > A,C)GGTTCAACTA chr9: 3195775 0.9958,.,0.004193 0.99260161824668705,0.00002389143730886,0.00737449031600407 Region score:0.38; TSS score:0.23; Unmatched score:0.11; Average GERP:-0.2995960396039602 GeneName:LINC01231; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000236511; TranscriptID:ENST00000452746; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003941 19896111 NONHSAT078295.2 rs261360 A N/A 4,845 european ancestry individuals from 2,892 families//16,140 european ancestry individuals EFO_0005038 N/A Associate Hair morphology rs261360-A of NONHSAT078295.2 is significantly associated with the hair morphology by using GWAS analysis in 4,845 european ancestry individuals from 2,892 families//16,140 european ancestry individuals(p-value = 3E-6 ;OR = ?). 0.4 Common variants in the trichohyalin gene are associated with straight hair in Europeans. genome-wide association analysis NONHSAT078295.2 lncRNA Hair morphology 0.33 AGCACTCCCC(G > A)AAGACATCAC chr20: 5057128 0.6536,0.3464 0.62666443679918450,0.37333556320081549 Region score:0.44; TSS score:0.43; Unmatched score:0.32; Average GERP:-0.15994285714285716 GeneName:AL121890.5; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000278816; TranscriptID:ENST00000620848; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000134028; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000297204; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003942 26910538 NONHSAT130002.2 rs7043199 A N/A 9541 european ancestry individuals//1,115 cilento (founder/genetic isolated) individuals//897 ogliastran (founder/genetic isolated) individuals//1,759 val borbera (founder/genetic isolated) individuals; 2,141 european ancestry individuals//659 sorbian (founder/genetic isolated) individuals EFO_0004762 N/A Associate Vascular endothelial growth factor levels rs7043199-A of NONHSAT130002.2 is significantly associated with the vascular endothelial growth factor levels by using GWAS analysis in 9541 european ancestry individuals//1,115 cilento (founder/genetic isolated) individuals//897 ogliastran (founder/genetic isolated) individuals//1,759 val borbera (founder/genetic isolated) individuals; 2,141 european ancestry individuals//659 sorbian (founder/genetic isolated) individuals(p-value = 4E-14 ;OR = 0.1). 0.4 Six Novel Loci Associated with Circulating VEGF Levels Identified by a Meta-analysis of Genome-Wide Association Studies. genome-wide association analysis NONHSAT130002.2 lncRNA Vascular endothelial growth factor measurement 0.33 CAAACCCCAC(T > A)TTTGAGCAGC chr9: 2621145 0.8944,0.1056 0.82700210244648318,0.17299789755351681 Region score:0.23; TSS score:0.62; Unmatched score:0.87; Average GERP:0.9494128712871283 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000874061; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:VLDLR-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000236404; TranscriptID:ENST00000648733; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:VLDLR; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000147852; TranscriptID:ENST00000382100; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003943 25760438 NONHSAT166709.1 rs12865097 ? N/A 361 martu australian aboriginal ancestry individuals EFO_0001073 N/A Associate Body mass index rs12865097-? of NONHSAT166709.1 is significantly associated with the body mass index by using GWAS analysis in 361 martu australian aboriginal ancestry individuals(p-value = 7E-6 ;OR = 0.78). 0.4 First genome-wide association study in an Australian aboriginal population provides insights into genetic risk factors for body mass index and type 2 diabetes. genome-wide association analysis NONHSAT166709.1 lncRNA Obesity 0.33 CAGGCACCCC(C > T)CTATTCCATT chr13: 44903275 0.9129,0.08706 0.87464959225280326,0.12535040774719673 Region score:0.18; TSS score:0.47; Unmatched score:0.29; Average GERP:0.1348217821782179 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000480623; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003944 23583979 NONHSAT205032.1 rs6882776 G N/A 85,787 european ancestry individuals//6,568 indian asian ancestry indiviudals; 88,823 european ancestry individuals MONDO_0000992 N/A Associate Heart rate rs6882776-G of NONHSAT205032.1 is significantly associated with the heart rate by using GWAS analysis in 85,787 european ancestry individuals//6,568 indian asian ancestry indiviudals; 88,823 european ancestry individuals(p-value = 2E-12 ;OR = 0.301). 0.4 Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders. genome-wide association analysis NONHSAT205032.1 lncRNA Heart conduction disease 0.33 N/A N/A N/A N/A N/A N/A NCRV0000003945 28139693 NONHSAT179899.1 rs11665748 ? N/A 28,503 european ancestry individuals; 2,716 latino individuals//2,518 east asian ancestry individuals//1,585 african american individuals//6,193 european ancestry individuals (later diagnosed with prostate cancer) EFO_0001663 N/A Associate Prostate-specific antigen levels (conditioned on lead snps) rs11665748-? of NONHSAT179899.1 is significantly associated with the prostate-specific antigen levels (conditioned on lead snps) by using GWAS analysis in 28,503 european ancestry individuals; 2,716 latino individuals//2,518 east asian ancestry individuals//1,585 african american individuals//6,193 european ancestry individuals (later diagnosed with prostate cancer)(p-value = 3E-54 ;OR = 0.09). 0.4 Genome-wide association study of prostate-specific antigen levels identifies novel loci independent of prostate cancer. genome-wide association analysis NONHSAT179899.1 lncRNA Prostate cancer 0.33 TACTTCTTCT(G > A)TCACATCCTG chr19: 50851141 0.4471,0.5529 0.39099929918450560,0.60900070081549439 Region score:0.18; TSS score:0.5; Unmatched score:0.42; Average GERP:-0.569450495049505 GeneName:AC011523.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000267968; TranscriptID:ENST00000598079; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:KLK3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000142515; TranscriptID:ENST00000326003; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003946 23928854 miR-196a rs11614913 T Dominant 859 behcet's disease and 1,685 controls all belonging to a chinese han population EFO_0003780 N/A Increasing risk Behcet's disease rs11614913-T of miR-196a and its dysfunction is significantly associated with the increasing risk of Behcet's disease by using case-control analysis in 859 Behcet's disease and 1,685 controls all belonging to a Chinese Han population. By using the disease cell lines or tissues, the interference and mutation of miR-196a has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. Moreover, the ncRNA variation-disease association was validated by complex experiments. 1.4 A functional variant of pre-miRNA-196a2 confers risk for Behcet's disease but not for Vogt-Koyanagi-Harada syndrome or AAU in ankylosing spondylitis. case-control analysis; Function; Mechanism hsa-mir-196a-2 miRNA Behcet's syndrome 0.753 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003947 26252872 NONHSAT150046.1 rs115199861 C N/A 472 european ancestry cases//47 cases HP_0100543 N/A Associate Cognitive decline rate in late mild cognitive impairment rs115199861-C of NONHSAT150046.1 is significantly associated with the cognitive decline rate in late mild cognitive impairment by using GWAS analysis in 472 european ancestry cases//47 cases(p-value = 1E-7 ;OR = 0.5796). 0.4 Variations in the FRA10AC1 Fragile Site and 15q21 Are Associated with Cerebrospinal Fluid Abeta1-42 Level. genome-wide association analysis NONHSAT150046.1 lncRNA Cognitive impairment 0.33 CCCACGATGG(C > G,T)CACGTCCTGA chr1: 171670879 0.9968,0.003195,. 0.99288831549439347,0.00709575688073394,0.00001592762487257 Region score:0.49; TSS score:0.32; Unmatched score:0.71; Average GERP:0.39739702970297053 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000377190; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PFN1P1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000233328; TranscriptID:ENST00000442087; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003948 27863252 NONHSAT004977.2 rs663045 C N/A 169,822 european ancestry individuals EFO_0007987 N/A Associate Granulocyte count rs663045-C of NONHSAT004977.2 is significantly associated with the granulocyte count by using GWAS analysis in 169,822 european ancestry individuals(p-value = 5E-11 ;OR = 0.02368156). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT004977.2 lncRNA Granulocyte count 0.33 GAGGGAGCTG(G > C)GAGCTGGGTC chr1: 108200437 0.4187,0.5813 0.45580880479102956,0.54419119520897043 Region score:0.42; TSS score:0.43; Unmatched score:0.98; Average GERP:-2.1942909900990104 GeneName:AL359258.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000260879; TranscriptID:ENST00000564063; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AL359258.3; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000280186; TranscriptID:ENST00000622910; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000010962; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000367943; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SLC25A24; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000085491; TranscriptID:ENST00000565488; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003949 18464913 NONHSAT175903.1 rs6761 ? N/A 1,200 european ancestry individuals; up to 4,590 european ancestry individuals EFO_0004696 N/A Associate Protein quantitative trait loci rs6761-? of NONHSAT175903.1 is significantly associated with the protein quantitative trait loci by using GWAS analysis in 1,200 european ancestry individuals; up to 4,590 european ancestry individuals(p-value = 3E-7 ;OR = ?). 0.4 A genome-wide association study identifies protein quantitative trait loci (pQTLs). genome-wide association analysis NONHSAT175903.1 lncRNA Sex hormone-binding globulin measurement 0.33 CTGATGCAGA(C > T)TCTTGTCTTG chr17: 7514346 0.4772,0.5228 0.44612480886850152,0.55387519113149847 Region score:0.42; TSS score:0.74; Unmatched score:0.77; Average GERP:-0.13063366336633656 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000548539; AnnoType:REGULATORY; mirSVR-Score:-0.6582; mirSVR-E:-20.38 | GeneName:POLR2A; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000181222; TranscriptID:ENST00000617998; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.6582; mirSVR-E:-20.38 | NCRV0000003950 23342264 miR-142 rs772570355 T Dominant 56 dlbcl cases EFO_0000403 N/A Increasing risk Diffuse large b-cell lymphoma rs772570355-T of miR-142 and its dysfunction is significantly associated with the increasing risk of diffuse large B-cell lymphoma by using analysis of sequence variation in 56 DLBCL cases. 0.4 MicroRNA-142 is mutated in about 20% of diffuse large B-cell lymphoma. analysis of sequence variation hsa-mir-142 miRNA Diffuse large b-cell lymphoma 0.33 TTTATGGGTG(A > C)CTGCACTGTC chr17: 58331308 N/A RS=772570355;RSPOS=58331308;dbSNPBuildID=144;SSR=0;SAO=0;VP=0x050000080005000002000100;GENEINFO=TSPOAP1-AS1:100506779|MIR142:406934;WGT=1;VC=SNV;INT;ASP N/A GeneName:AC004687.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000265206; TranscriptID:ENST00000579003; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR142; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000284353; TranscriptID:ENST00000384835; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR4736; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000264399; TranscriptID:ENST00000581591; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000096246; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TSPOAP1-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000265148; TranscriptID:ENST00000580515; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TSPOAP1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000005379; TranscriptID:ENST00000343736; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003951 23378610 NONHSAT183488.1 rs715 T N/A 1,004 european ancestry individuals; 339 european ancestry individuals EFO_0004471 N/A Associate Metabolite levels rs715-T of NONHSAT183488.1 is significantly associated with the metabolite levels by using GWAS analysis in 1,004 european ancestry individuals; 339 european ancestry individuals(p-value = 3E-50 ;OR = 0.61). 0.4 Genetic variants associated with glycine metabolism and their role in insulin sensitivity and type 2 diabetes. genome-wide association analysis NONHSAT183488.1 lncRNA Insulin sensitivity measurement 0.33 TTCTGAACTC(T > C)TTCTATACTT chr2: 210678331 0.7638,0.2362 0.72770928899082568,0.27229071100917431 Region score:0.52; TSS score:0.86; Unmatched score:0.84; Average GERP:0.6805089108910892 GeneName:CPS1; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000021826; TranscriptID:ENST00000430249; AnnoType:3PRIME_UTR; mirSVR-Score:-1.1081; mirSVR-E:-13.72 | NCRV0000003952 28762467 NONHSAT174755.1 rs9675270 ? N/A 36 european ancestry cases//5,170 european ancestry untreated controls HP_0012235 Sulfasalazine-induced Associate Sulfasalazine-induced agranulocytosis rs9675270-? of NONHSAT174755.1 is significantly associated with the sulfasalazine-induced agranulocytosis by using GWAS analysis in 36 european ancestry cases//5,170 european ancestry untreated controls(p-value = 1E-7 ;OR = 4.64). 0.4 Sulfasalazine-Induced Agranulocytosis Is Associated With the Human Leukocyte Antigen Locus. genome-wide association analysis NONHSAT174755.1 lncRNA Drug-induced agranulocytosis 0.33 CTAAAAAAAA(A > T)TTTTTTTAAT chr17: 1964741 0.1516,0.8484 0.10264557849133537,0.89735442150866462 Region score:0.31; TSS score:0.12; Unmatched score:0.01; Average GERP:0 GeneName:RTN4RL1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000185924; TranscriptID:ENST00000331238; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003953 27863252 NONHSAT008671.2 rs1434282 T N/A 164,454 european ancestry individuals EFO_0004584 N/A Associate Mean platelet volume rs1434282-T of NONHSAT008671.2 is significantly associated with the mean platelet volume by using GWAS analysis in 164,454 european ancestry individuals(p-value = 6E-9 ;OR = 0.02375724). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT008671.2 lncRNA Mean platelet volume 0.33 TCCCAAGAGA(C > T)GTTATCAGTC chr1: 199041592 0.219,0.781 0.23566513761467889,0.76433486238532110 Region score:0.7; TSS score:0.66; Unmatched score:0.73; Average GERP:2.7453069306930686 GeneName:LINC01221; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000235492; TranscriptID:ENST00000432488; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003954 27863252 NONHSAT006319.2 rs4970966 T N/A 170,494 european ancestry individuals EFO_0007989 N/A Associate Monocyte percentage of white cells rs4970966-T of NONHSAT006319.2 is significantly associated with the monocyte percentage of white cells by using GWAS analysis in 170,494 european ancestry individuals(p-value = 4E-56 ;OR = 0.06773102). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT006319.2 lncRNA Monocypte percentage of leukocytes 0.33 ACACGGGCTT(G > T)CATTTCTAAA chr1: 150611627 0.8299,0.1701 0.83659849643221202,0.16340150356778797 Region score:0.49; TSS score:0.54; Unmatched score:0.69; Average GERP:0.7767138613861383 GeneName:ENSA; CADD-Score:2; Consquence:intron; GeneID:ENSG00000143420; TranscriptID:ENST00000369016; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000372432; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF00015; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000276103; TranscriptID:ENST00000620626; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003955 29059430 NONHSAT177162.1 rs11651604 C N/A 69 european ancestry cases//2,144 european ancestry controls EFO_0000305 treated with less than 10 gray radiotherapy Associate Breast cancer in childhood cancer survivors treated with less than 10 gray radiotherapy rs11651604-C of NONHSAT177162.1 is significantly associated with the breast cancer in childhood cancer survivors treated with less than 10 gray radiotherapy by using GWAS analysis in 69 european ancestry cases//2,144 european ancestry controls(p-value = 6E-7 ;OR = 2.12). 0.4 Genome-Wide Association Study to Identify Susceptibility Loci That Modify Radiation-Related Risk for Breast Cancer After Childhood Cancer.LID - 10.1093/jnci/djx058 [doi]AB - Background: Childhood cancer survivors treated with chest-directed rad genome-wide association analysis NONHSAT177162.1 lncRNA Breast cancer 0.33 CCATAAAACC(G > A,C)AGACCGCCAG chr17: 71440368 0.9071,.,0.09285 0.86984741335372069,0.00000796381243628,0.13014462283384301 Region score:0.36; TSS score:0.55; Unmatched score:0.36; Average GERP:1.8108514851485142 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000563240; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003956 25784220 NONHSAT190171.1 rs6137473 G N/A 371 european ancestry female cases//76 european ancestry male cases//533 european ancestry female controls//204 european ancestry male controls; 715 european//black//hispanic and other ancestry trios//216 european ancestry cases//336 european ancestry controls//1,050 japanese ancestry female cases//1,474 japanese ancestry female controls EFO_0005423 N/A Associate Adolescent idiopathic scoliosis rs6137473-G of NONHSAT190171.1 is significantly associated with the adolescent idiopathic scoliosis by using GWAS analysis in 371 european ancestry female cases//76 european ancestry male cases//533 european ancestry female controls//204 european ancestry male controls; 715 european//black//hispanic and other ancestry trios//216 european ancestry cases//336 european ancestry controls//1,050 japanese ancestry female cases//1,474 japanese ancestry female controls(p-value = 3E-8 ;OR = 1.3). 0.4 A PAX1 enhancer locus is associated with susceptibility to idiopathic scoliosis in females. genome-wide association analysis NONHSAT190171.1 lncRNA Adolescent idiopathic scoliosis 0.33 AACATGGCTC(G > A)GAGCTCAGTT chr20: 21904055 0.4353,0.5647 0.39469450815494393,0.60530549184505606 Region score:0.56; TSS score:0.22; Unmatched score:0.07; Average GERP:-0.7736336633663367 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003957 20810544 miRNA-146a rs2910164 C N/A 101 Italian probands with ascertained familiarity for breast/ovarian cancer and tested negative for both BRCA1 and BRCA2 gene mutations and 155 controls Orphanet_213517 N/A increasing risk Familial ovarian cancer rs2910164 -C of hsa-mir-146a and its dysfunction is significantly associated with the increasing risk of Familial ovarian cancer by using case-control analysis in 101 Italian probands with ascertained familiarity for breast/ovarian cancer and tested negative for both BRCA1 and BRCA2 gene mutations and 155 controls 0.4 Association between hsa-mir-146a genotype and tumor age-of-onset in BRCA1/BRCA2-negative familial breast and ovarian cancer patients. case-control analysis hsa-mir-146a miRNA Familial ovarian cancer 0.667 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 0 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003957 18660546 miR-146a rs2910164 C Dominant 82 patients with familial ovarian cancer Orphanet_213517 N/A increasing risk Familial ovarian cancer rs2910164-C of hsa-mir-146a and its dysfunction is significantly associated with the increasing risk of Familial ovarian cancer by using analysis of sequence variation in 82 patients with familial ovarian cancer 0.9 A functional polymorphism in the miR-146a gene and age of familial breast/ovarian cancer diagnosis. analysis of sequence variation hsa-mir-146a miRNA Familial ovarian cancer 0.667 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 0 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003958 27632927 NONHSAT211049.1 rs17077968 ? N/A 803 finnish ancestry child cases//2,073 finnish ancestry controls EFO_0004992 N/A Associate Otitis media rs17077968-? of NONHSAT211049.1 is significantly associated with the otitis media by using GWAS analysis in 803 finnish ancestry child cases//2,073 finnish ancestry controls(p-value = 3E-6 ;OR = ?). 0.4 Genome-wide association analysis reveals variants on chromosome 19 that contribute to childhood risk of chronic otitis media with effusion. genome-wide association analysis NONHSAT211049.1 lncRNA Otitis media 0.33 ATTGTGAAAA(C > A)CCTTCATCTC chr6: 116448435 0.8464,0.1536 0.88014462283384301,0.11985537716615698 Region score:0.21; TSS score:0.45; Unmatched score:0.39; Average GERP:-0.1991772277227725 GeneName:CBX3P9; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000217241; TranscriptID:ENST00000402326; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:DSE; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000111817; TranscriptID:ENST00000644252; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:Z84488.2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000285446; TranscriptID:ENST00000644499; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003959 26377243 NONHSAT211318.1 rs9406316 C N/A 2,895 african american individuals EFO_0000319 N/A Associate Lipoprotein (a) levels rs9406316-C of NONHSAT211318.1 is significantly associated with the lipoprotein (a) levels by using GWAS analysis in 2,895 african american individuals(p-value = 1E-9 ;OR = 0.17). 0.4 Genome- and exome-wide association study of serum lipoprotein (a) in the Jackson Heart Study. genome-wide association analysis NONHSAT211318.1 lncRNA Cardiovascular disease 0.33 GCCCTGACAC(T > C)GGCCTCTGTC chr6: 157228616 0.778,0.222 0.79048005861365953,0.20951994138634046 Region score:0.24; TSS score:0.3; Unmatched score:0.14; Average GERP:-0.41515544554455447 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003960 29047230 PVT1 PVT1 Amplification - Dominant Hepatocellular carcinoma and normal tissues using tcga rna sequencing data EFO_0000182 N/A Poor prognosis Hepatocellular carcinoma Amplification of PVT1 and its dysfunction is significantly associated with the poor prognosis of hepatocellular carcinoma by using case-control analysis in hepatocellular carcinoma and normal tissues using TCGA RNA sequencing data. By using the disease cell lines or tissues, the interference of PVT1 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 A comprehensive genome-wide analysis of long noncoding RNA expression profile in hepatocellular carcinoma. analysis of sequence variation; Function PVT1 lncRNA Hepatocellular cancer 0.593 N/A N/A N/A N/A N/A N/A NCRV0000003961 26625972 let-7 rs10739971 A N/A 761 patients with surgically resected non-small cell lung cancer EFO_0003060 N/A no significance for risk non-small cell lung carcinoma rs10739971-A of hsa-let-7a-1 and its dysfunction is not significantly associated with Non-small cell lung carcinoma by using analysis of sequence variation in 761 patients with surgically resected non-small cell lung cancer -0.4 The pri-let-7a-2 rs1143770C>T is associated with prognosis of surgically resected non-small cell lung cancer. analysis of sequence variation hsa-let-7a-1 miRNA Non-small cell lung carcinoma -0.33 GTGTTTGCTC(G > A,C)CATGGGATAA chr9: 94175398 0.7428,0.2572,. 0.75801159531090723,0.24194062181447502,0.00004778287461773 Region score:0.4; TSS score:0.46; Unmatched score:0.49; Average GERP:-0.8509700396039604 GeneName:AL158152.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000269929; TranscriptID:ENST00000602652; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LINC02603; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000230262; TranscriptID:ENST00000416309; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIRLET7A1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000199165; TranscriptID:ENST00000362295; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIRLET7A1HG; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000269946; TranscriptID:ENST00000602703; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIRLET7D; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000199133; TranscriptID:ENST00000362263; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIRLET7F1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000199072; TranscriptID:ENST00000362202; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003962 26634245 NONHSAT171062.1 rs34225855 C N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs34225855-C of NONHSAT171062.1 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 6E-7 ;OR = 0.047). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. genome-wide association analysis NONHSAT171062.1 lncRNA Pulmonary function measurement 0.33 CATTGGTCAG(C > G)TGACTCCACT chr15: 78729794 0.7065,0.2935 0.66358467125382262,0.33641532874617737 Region score:0.12; TSS score:0.15; Unmatched score:0.17; Average GERP:-0.5245499999999996 GeneName:AC022748.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000261303; TranscriptID:ENST00000564933; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CHRNB4; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000117971; TranscriptID:ENST00000558216; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003963 25918132 NONHSAT102373.2 rs74935252 A N/A 74 european ancestry cases//824 european ancestry controls EFO_0000270 N/A Associate Diisocyanate-induced asthma rs74935252-A of NONHSAT102373.2 is significantly associated with the diisocyanate-induced asthma by using GWAS analysis in 74 european ancestry cases//824 european ancestry controls(p-value = 1E-6 ;OR = 34.03). 0.4 Genome-Wide Association Study Identifies Novel Loci Associated With Diisocyanate-Induced Occupational Asthma. genome-wide association analysis NONHSAT102373.2 lncRNA Asthma 0.33 TGAGTTGGAA(A > T)ATTTAGCATC chr5: 79733488 0.9497,0.05032 0.95380192405708460,0.04619807594291539 Region score:0.3; TSS score:0.38; Unmatched score:0.42; Average GERP:0.2550543564356435 GeneName:CMYA5; CADD-Score:7; Consquence:missense; GeneID:ENSG00000164309; TranscriptID:ENST00000446378; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003964 28135244 NONHSAT195446.1 rs13099220 T N/A 140,886 european ancestry individuals; 190,318 european ancestry individuals EFO_0006336 N/A Associate Diastolic blood pressure rs13099220-T of NONHSAT195446.1 is significantly associated with the diastolic blood pressure by using GWAS analysis in 140,886 european ancestry individuals; 190,318 european ancestry individuals(p-value = 5E-6 ;OR = 0.1505). 0.4 Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk. genome-wide association analysis NONHSAT195446.1 lncRNA Diastolic blood pressure 0.33 GAGAGCTGAG(A > T)GAGGCACTGT chr3: 14918317 0.8494,0.1506 0.83514111875637104,0.16485888124362895 Region score:0.24; TSS score:0.3; Unmatched score:0.22; Average GERP:-0.7258237623762376 GeneName:FGD5-AS1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000225733; TranscriptID:ENST00000430166; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:FGD5; CADD-Score:2; Consquence:intron; GeneID:ENSG00000154783; TranscriptID:ENST00000285046; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003965 27863252 NONHSAT208699.1 rs1285886 A N/A 171,643 european ancestry individuals EFO_0004587 N/A Associate Lymphocyte counts rs1285886-A of NONHSAT208699.1 is significantly associated with the lymphocyte counts by using GWAS analysis in 171,643 european ancestry individuals(p-value = 3E-10 ;OR = 0.02893744). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT208699.1 lncRNA Lymphocyte count 0.33 ACGAACATTT(G > A)AGAAATTACT chr6: 7140598 0.7554,0.2446 0.72082855504587155,0.27917144495412844 Region score:0.3; TSS score:0.41; Unmatched score:0.65; Average GERP:-0.5814712871287129 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000782254; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RREB1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000124782; TranscriptID:ENST00000379938; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003966 23870195 NONHSAT066079.2 rs7246657 T N/A 5,823 african american individuals; 9,992 european ancestry individuals EFO_0004723 N/A Associate Coronary artery calcification rs7246657-T of NONHSAT066079.2 is significantly associated with the coronary artery calcification by using GWAS analysis in 5,823 african american individuals; 9,992 european ancestry individuals(p-value = 7E-6 ;OR = 0.16). 0.4 Genetics of coronary artery calcification among African Americans, a meta-analysis. genome-wide association analysis NONHSAT066079.2 lncRNA Coronary artery calcification 0.33 CCTACCAGAA(T > C)GGATAACTTG chr19: 37256206 0.6544,0.3456 0.72361588939857288,0.27638411060142711 Region score:0.4; TSS score:0.18; Unmatched score:0.08; Average GERP:0.05721782178217829 GeneName:LINC01535; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000226686; TranscriptID:ENST00000592712; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003967 26941397 GAS8-AS1 rs61118444 G Dominant 402 tumor-normal pairs (discovery: 91 pairs via exome sequencing; validation: 311 pairs via sanger sequencing) EFO_0000641 N/A Increasing risk Papillary thyroid carcinoma rs61118444-G of GAS8-AS1 and its dysfunction is significantly associated with the increasing risk of Papillary thyroid carcinoma by using case-control analysis in 402 tumor-normal pairs (Discovery: 91 pairs via exome sequencing; validation: 311 pairs via Sanger sequencing). By using the disease cell lines or tissues, the interference and mutation of GAS8-AS1 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 Whole exome sequencing identifies lncRNA GAS8-AS1 and LPAR4 as novel papillary thyroid carcinoma driver alternations. case-control analysis; Function GAS8-AS1 lncRNA Papillary thyroid cancer 0.593 GGGCAGGCTA(T > C)GGGGCAGCCT chr16: 90029189 0.5373,0.4627 0.69417367482161060,0.30582632517838939 Region score:0.25; TSS score:0.09; Unmatched score:0.43; Average GERP:-1.0655846153846156 GeneName:GAS8-AS1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000221819; TranscriptID:ENST00000408886; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GAS8; CADD-Score:2; Consquence:intron; GeneID:ENSG00000141013; TranscriptID:ENST00000268699; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003968 28753643 NONHSAT201595.1 rs192427471 T N/A 1,318 european//african american//asian and other ancestry darapladib-treated cases//1,440 european//african american//asian and other ancestry placebo-treated cases EFO_0005672 darapladib treatment interaction Associate Major coronary event in cardiovascular disease (time to event) (darapladib treatment interaction) rs192427471-T of NONHSAT201595.1 is significantly associated with the major coronary event in cardiovascular disease (time to event) (darapladib treatment interaction) by using GWAS analysis in 1,318 european//african american//asian and other ancestry darapladib-treated cases//1,440 european//african american//asian and other ancestry placebo-treated cases(p-value = 2E-6 ;OR = ?). 0.4 Pharmacogenetic meta-analysis of baseline risk factors, pharmacodynamic, efficacy and tolerability endpoints from two large global cardiovascular outcomes trials for darapladib. genome-wide association analysis NONHSAT201595.1 lncRNA Acute coronary syndrome 0.33 ATAGGCAGGG(C > T)GCGGTGGCTC chr4: 124644124 0.992,0.007987 0.99491908766564729,0.00508091233435270 Region score:0.33; TSS score:0.03; Unmatched score:0; Average GERP:0.04815841584158418 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003969 19584924 miR-30d hsa-mir-30d Amplification - Dominant Over 800 cancer cell lines EFO_0002939 N/A Increasing risk Medulloblastoma Amplification of miR-30d and its dysfunction is significantly associated with the increasing risk of Medulloblastoma by using analysis of sequence variation in over 800 cancer cell lines. By using the disease cell lines or tissues, the interference of miR-30d has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 Amplification and overexpression of Hsa-miR-30b, Hsa-miR-30d and KHDRBS3 at 8q24.22-q24.23 in medulloblastoma. analysis of sequence variation; Function hsa-mir-30d miRNA Medulloblastoma 0.593 N/A N/A N/A N/A N/A N/A NCRV0000003970 30447914 miR-149 rs2292832 T recessive Case: 1396 Control: 1574 EFO_0005842 N/A increasing risk colorectal cancer rs2292832-T of hsa-mir-149 and its dysfunction is significantly associated with the increasing risk of Colorectal cancer by using meta-analysis in Case: 1396 Control: 1574 0.4 Polymorphisms in non-coding RNAs and risk of colorectal cancer: A systematic review and meta-analysis. meta-analysis hsa-mir-149 miRNA Colorectal cancer 0 CTGGGGCAGC(T > A,C)GGAACAACGC chr2: 240456086 0.3866,.,0.6134 0.31987449031600407,0.00025484199796126,0.67987066768603465 Region score:0.3; TSS score:0.39; Unmatched score:0.89; Average GERP:1.5002722772277222 GeneName:AC110619.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000218416; TranscriptID:ENST00000404891; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GPC1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000063660; TranscriptID:ENST00000264039; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR149; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207611; TranscriptID:ENST00000384879; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000133146; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003970 26208586 mir-149 rs2292832 T N/A several case-control studies EFO_0005842 N/A no significance for risk colorectal cancer rs2292832-T of hsa-mir-149 and its dysfunction is not significantly associated with Colorectal cancer by using meta-analysis in several case-control studies -0.4 Associations of Polymorphisms in mir-196a2, mir-146a and mir-149 with Colorectal Cancer Risk: A Meta-Analysis. meta-analysis hsa-mir-149 miRNA Colorectal cancer 0 CTGGGGCAGC(T > A,C)GGAACAACGC chr2: 240456086 0.3866,.,0.6134 0.31987449031600407,0.00025484199796126,0.67987066768603465 Region score:0.3; TSS score:0.39; Unmatched score:0.89; Average GERP:1.5002722772277222 GeneName:AC110619.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000218416; TranscriptID:ENST00000404891; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GPC1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000063660; TranscriptID:ENST00000264039; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR149; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207611; TranscriptID:ENST00000384879; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000133146; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003970 25213291 mir-149 rs2292832 T N/A 1,409 cases and 1,115 controls EFO_0005842 N/A no significance for risk colorectal cancer rs2292832-T of hsa-mir-149 and its dysfunction is not significantly associated with Colorectal cancer by using meta-analysis in 1,409 cases and 1,115 controls -0.4 Genetic polymorphisms in miRNAs and susceptibility to colorectal cancer. meta-analysis hsa-mir-149 miRNA Colorectal cancer 0 CTGGGGCAGC(T > A,C)GGAACAACGC chr2: 240456086 0.3866,.,0.6134 0.31987449031600407,0.00025484199796126,0.67987066768603465 Region score:0.3; TSS score:0.39; Unmatched score:0.89; Average GERP:1.5002722772277222 GeneName:AC110619.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000218416; TranscriptID:ENST00000404891; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GPC1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000063660; TranscriptID:ENST00000264039; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR149; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207611; TranscriptID:ENST00000384879; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000133146; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003970 29715515 mir-149 rs2292832 T Dominant 152 Colorectal cancer cases and 161 controls EFO_0005842 N/A increasing risk colorectal cancer rs2292832-T of hsa-mir-149 and its dysfunction is significantly associated with the increasing risk of Colorectal cancer by using case-control analysis in 152 Colorectal cancer cases and 161 controls 0.4 Contribution of microRNA-149, microRNA-146a, and microRNA-196a2 SNPs in colorectal cancer risk and clinicopathological features in Tunisia. case-control analysis hsa-mir-149 miRNA Colorectal cancer 0 CTGGGGCAGC(T > A,C)GGAACAACGC chr2: 240456086 0.3866,.,0.6134 0.31987449031600407,0.00025484199796126,0.67987066768603465 Region score:0.3; TSS score:0.39; Unmatched score:0.89; Average GERP:1.5002722772277222 GeneName:AC110619.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000218416; TranscriptID:ENST00000404891; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GPC1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000063660; TranscriptID:ENST00000264039; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR149; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207611; TranscriptID:ENST00000384879; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000133146; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003971 25342443 NONHSAT190100.1 rs6104691 A N/A 7,600 european ancestry individuals; 343 european ancestry individuals//1,472 old order amish individuals//8,564 individuals EFO_0006503 N/A Associate Mammographic density (dense area) rs6104691-A of NONHSAT190100.1 is significantly associated with the mammographic density (dense area) by using GWAS analysis in 7,600 european ancestry individuals; 343 european ancestry individuals//1,472 old order amish individuals//8,564 individuals(p-value = 1E-6 ;OR = ?). 0.4 Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk. genome-wide association analysis NONHSAT190100.1 lncRNA Dense area measurement 0.33 AATATCAAAC(G > A)TTAGAAGGAA chr20: 11016263 0.6124,0.3876 0.66949382008154943,0.33050617991845056 Region score:0.26; TSS score:0.38; Unmatched score:0.29; Average GERP:-0.6395415841584158 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003972 26198764 NONHSAT004731.2 rs2660304 T N/A 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls EFO_0000692 N/A Associate Schizophrenia rs2660304-T of NONHSAT004731.2 is significantly associated with the schizophrenia by using GWAS analysis in 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls(p-value = 1E-17 ;OR = 1.12). 0.4 Genome-wide association study of schizophrenia in Ashkenazi Jews. genome-wide association analysis NONHSAT004731.2 lncRNA Schizophrenia 0.33 TACCCAGTCT(G > T)GTCTCGGCCA chr1: 98046571 0.1532,0.8468 0.16120349133537206,0.83879650866462793 Region score:0.49; TSS score:0.58; Unmatched score:0.91; Average GERP:2.4234840594059386 GeneName:MIR137; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284202; TranscriptID:ENST00000385223; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR137HG; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000225206; TranscriptID:ENST00000634594; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR2682; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284247; TranscriptID:ENST00000580305; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000010436; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003973 27863252 NONHSAT076891.2 rs55799208 A N/A 169,822 european ancestry individuals EFO_0007987 N/A Associate Granulocyte count rs55799208-A of NONHSAT076891.2 is significantly associated with the granulocyte count by using GWAS analysis in 169,822 european ancestry individuals(p-value = 8E-42 ;OR = 0.4863582). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT076891.2 lncRNA Granulocyte count 0.33 CATGCCACAC(G > A)CACACTGACC chr2: 218135259 0.9992,0.0007987 0.99875764525993883,0.00124235474006116 Region score:0.3; TSS score:0.45; Unmatched score:0.56; Average GERP:2.868386138613863 GeneName:CXCR2; CADD-Score:7; Consquence:missense; GeneID:ENSG00000180871; TranscriptID:ENST00000318507; AnnoType:NON_SYNONYMOUS; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003974 25866641 NONHSAT205863.1 rs157411 ? N/A 171 european ancestry cases EFO_1000657 N/A Associate Survival in rectal cancer rs157411-? of NONHSAT205863.1 is significantly associated with the survival in rectal cancer by using GWAS analysis in 171 european ancestry cases(p-value = 2E-6 ;OR = 2.89). 0.4 A genome wide association study on Newfoundland colorectal cancer patients' survival outcomes. genome-wide association analysis NONHSAT205863.1 lncRNA Rectum cancer 0.33 GTCATGTGCA(G > A)ACCCTGCTGG chr5: 67999079 0.3293,0.6707 0.30423356269113149,0.69576643730886850 Region score:0.37; TSS score:0.43; Unmatched score:0.3; Average GERP:-0.04849108910891086 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000757616; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003975 28604730 NONHSAT166350.1 rs118166185 G N/A 7,426 european ancestry cases//55,627 european ancestry controls EFO_0000708 N/A Associate Squamous cell lung carcinoma rs118166185-G of NONHSAT166350.1 is significantly associated with the squamous cell lung carcinoma by using GWAS analysis in 7,426 european ancestry cases//55,627 european ancestry controls(p-value = 5E-6 ;OR = 1.2207745). 0.4 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. genome-wide association analysis NONHSAT166350.1 lncRNA Squamous cell lung cancer 0.33 CACTAGGTTT(G > T)GGAACTTAAG chr13: 111451555 0.981,0.01897 0.96491144240570846,0.03508855759429153 Region score:0.24; TSS score:0.21; Unmatched score:0.14; Average GERP:-0.9953782178217824 GeneName:NA; CADD-Score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:INTERGENIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003976 27424800 mir-4646 rs3131383 ? N/a Schizophrenias EFO_0000692 N/A Increasing risk Schizophrenia rs3131383-? of mir-4646 and its dysfunction is significantly associated with the increasing risk of Schizophrenia by using genome-wide association analysis in Schizophrenias. 0.4 Schizophrenia risk variants affecting microRNA function and site-specific regulation of NT5C2 by miR-206. genome-wide association analysis hsa-mir-4646 miRNA Schizophrenia 0.33 GTCCTCTCCC(G > A,T)GGCTGGATCA chr6: 31736517 0.9663,.,0.03375 0.92162015800203873,0.00003981906218144,0.07834002293577981 Region score:0.57; TSS score:0.4; Unmatched score:0.96; Average GERP:1.5863059405940598 GeneName:CLIC1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000213719; TranscriptID:ENST00000375780; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MSH5; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000204410; TranscriptID:ENST00000375703; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MSH5-SAPCD1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000255152; TranscriptID:ENST00000493662; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000320255; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003977 28418933 TINCR rs2288947 G Dominant 1400 CRC cases and 1400 healthy controls EFO_0005842 N/A decreasing risk colorectal cancer rs2288947-G of TINCR and its dysfunction is significantly associated with the decreasing risk of Colorectal cancer by using case-control analysis in 1400 CRC cases and 1400 healthy controls 0.4 Genetic variation of long non-coding RNA TINCR contribute to the susceptibility and progression of colorectal cancer. case-control analysis TINCR lncRNA Colorectal cancer 0.33 CTAGGCTCCC(G > A)GGAGGCAGGA chr19: 5562104 0.4657,0.5343 0.53868820081549439,0.46131179918450560 Region score:0.46; TSS score:0.45; Unmatched score:0.56; Average GERP:-0.7562405940594061 GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000287160; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TINCR; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000223573; TranscriptID:ENST00000448587; AnnoType:3PRIME_UTR; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003978 24727325 let-7 rs61764370 G N/A whole blood (n = 2,834) and compared with paired tumor tissue (n = 977) EFO_0005842 N/A no significance for risk colorectal cancer rs61764370-G of hsa-let-7a-1 and its dysfunction is not significantly associated with Colorectal cancer by using case-control analysis in whole blood (n = 2,834) and compared with paired tumor tissue (n = 977) -0.4 Association study of the let-7 miRNA-complementary site variant in the 3' untranslated region of the KRAS gene in stage III colon cancer (NCCTG N0147 Clinical Trial). case-control analysis hsa-let-7a-1 miRNA Colorectal cancer 0.259 AAGGTGGGTG(A > C)ATCACTTGAG chr12: 25207290 0.9653,0.03474 0.93713366462793068,0.06286633537206931 Region score:0.55; TSS score:0.62; Unmatched score:0.6; Average GERP:0.16988118811881203 GeneName:AC092794.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000274987; TranscriptID:ENST00000612734; AnnoType:UPSTREAM; mirSVR-Score:-0.0434; mirSVR-E:-18.44 | GeneName:ETFRF1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000205707; TranscriptID:ENST00000381356; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0434; mirSVR-E:-18.44 | GeneName:KRAS; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000133703; TranscriptID:ENST00000256078; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0434; mirSVR-E:-18.44 | NCRV0000003978 20177422 Let-7 rs61764370 T N/a 134 patients with mcrc EFO_0005842 N/A Increasing risk Colorectal cancer rs61764370-T of Let-7 and its dysfunction is significantly associated with the increasing risk of colorectal cancer by using analysis of sequence variation in 134 patients with MCRC. By using the disease cell lines or tissues, the mutation of Let-7 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 Genetic modulation of the Let-7 microRNA binding to KRAS 3'-untranslated region and survival of metastatic colorectal cancer patients treated with salvage cetuximab-irinotecan. analysis of sequence variation; Function hsa-let-7a-1 miRNA Colorectal cancer 0.259 AAGGTGGGTG(A > C)ATCACTTGAG chr12: 25207290 0.9653,0.03474 0.93713366462793068,0.06286633537206931 Region score:0.55; TSS score:0.62; Unmatched score:0.6; Average GERP:0.16988118811881203 GeneName:AC092794.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000274987; TranscriptID:ENST00000612734; AnnoType:UPSTREAM; mirSVR-Score:-0.0434; mirSVR-E:-18.44 | GeneName:ETFRF1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000205707; TranscriptID:ENST00000381356; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0434; mirSVR-E:-18.44 | GeneName:KRAS; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000133703; TranscriptID:ENST00000256078; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0434; mirSVR-E:-18.44 | NCRV0000003978 26077004 let-7 rs61764370 G N/A 428 colorectal cancer samples EFO_0005842 N/A no significance for risk colorectal cancer rs61764370-G of hsa-let-7a-1 and its dysfunction is not significantly associated with Colorectal cancer by using analysis of sequence variation in 428 colorectal cancer samples -0.4 Comparison of the prevalence of KRAS-LCS6 polymorphism (rs61764370) within different tumour types (colorectal, breast, non-small cell lung cancer and brain tumours). A study of the Czech population. analysis of sequence variation hsa-let-7a-1 miRNA Colorectal cancer 0.259 AAGGTGGGTG(A > C)ATCACTTGAG chr12: 25207290 0.9653,0.03474 0.93713366462793068,0.06286633537206931 Region score:0.55; TSS score:0.62; Unmatched score:0.6; Average GERP:0.16988118811881203 GeneName:AC092794.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000274987; TranscriptID:ENST00000612734; AnnoType:UPSTREAM; mirSVR-Score:-0.0434; mirSVR-E:-18.44 | GeneName:ETFRF1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000205707; TranscriptID:ENST00000381356; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0434; mirSVR-E:-18.44 | GeneName:KRAS; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000133703; TranscriptID:ENST00000256078; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0434; mirSVR-E:-18.44 | NCRV0000003979 28177126 SNORD118 rs201558321 ? Dominant 8 unrelated families with LCC Orphanet_313838 N/A increasing risk Coats plus syndrome rs201558321-? of SNORD118 and its dysfunction is significantly associated with the increasing risk of Coats plus syndrome by using Pedigree analysis in 8 unrelated families with LCC 0.4 Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts. Pedigree analysis SNORD118 snoRNA Coats plus syndrome 0.33 TCACGTTTCA(T > A,C)GCATCTCCAA chr17: 8173517 0 0.99992832568807339,0.00000796381243628,0.00006371049949031 Region score:0.62; TSS score:0.45; Unmatched score:0.86; Average GERP:2.356138613861388 GeneName:AC129492.4; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000266824; TranscriptID:ENST00000581248; AnnoType:UPSTREAM; mirSVR-Score:-1.0087; mirSVR-E:-12.85 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000282324; AnnoType:REGULATORY; mirSVR-Score:-1.0087; mirSVR-E:-12.85 | GeneName:SNORD118; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000200463; TranscriptID:ENST00000363593; AnnoType:NONCODING_CHANGE; mirSVR-Score:-1.0087; mirSVR-E:-12.85 | GeneName:TMEM107; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000179029; TranscriptID:ENST00000316425; AnnoType:DOWNSTREAM; mirSVR-Score:-1.0087; mirSVR-E:-12.85 | NCRV0000003980 22778062 SNORD70 rs12463892 G N/A N/A function N/A not significant changes in the structure function rs12463892-G of SNORD70 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in nan -0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. SNPfold prediction SNORD70 snoRNA function -0.049 TCAATATTCG(T > G)CACTACCACT chr2: 202276494 0 RS=12463892;RSPOS=202276494;dbSNPBuildID=120;SSR=0;SAO=0;VP=0x0501000a0005040502000100;GENEINFO=NOP58:51602|SNORD70B:109616995|SNORD70:692110;WGT=1;VC=SNV;SLO;INT;R5;ASP;VLD;HD;GNO Region score:0.67; TSS score:0.32; Unmatched score:0.46; Average GERP:2.062029702970297 GeneName:NOP58; CADD-Score:2; Consquence:intron; GeneID:ENSG00000055044; TranscriptID:ENST00000264279; AnnoType:INTRONIC; mirSVR-Score:-0.8590; mirSVR-E:-9.98 | GeneName:SNORD70B; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000212309; TranscriptID:ENST00000391007; AnnoType:UPSTREAM; mirSVR-Score:-0.8590; mirSVR-E:-9.98 | GeneName:SNORD70; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000212534; TranscriptID:ENST00000391232; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.8590; mirSVR-E:-9.98 | NCRV0000003981 26301688 NONHSAT195744.1 rs4625 G N/A 97 european ancestry thyroiditis cases//107 european ancestry ankylosing spondylitis cases//100 european ancestry psoriasis cases//173 european ancestry celiac disease cases//254 european ancestry systemic lupus erythematosus cases//308 european ancestry common variable inmunodeficiency cases//865 european ancestry ulcerative colitis cases//1,086 european ancestry type 1 diabetes cases//1,123 european ancestry juvenile idiopathic arthritis cases//1,922 european ancestry crohn's disease cases//10,718 european ancestry controls EFO_0000540 N/A Associate Pediatric autoimmune diseases rs4625-G of NONHSAT195744.1 is significantly associated with the pediatric autoimmune diseases by using GWAS analysis in 97 european ancestry thyroiditis cases//107 european ancestry ankylosing spondylitis cases//100 european ancestry psoriasis cases//173 european ancestry celiac disease cases//254 european ancestry systemic lupus erythematosus cases//308 european ancestry common variable inmunodeficiency cases//865 european ancestry ulcerative colitis cases//1,086 european ancestry type 1 diabetes cases//1,123 european ancestry juvenile idiopathic arthritis cases//1,922 european ancestry crohn's disease cases//10,718 european ancestry controls(p-value = 8E-11 ;OR = ?). 0.4 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases. genome-wide association analysis NONHSAT195744.1 lncRNA Immune system disease 0.33 TCTCTGTCCC(A > G)TGACTCAGGG chr3: 49534707 0.7829,0.2171 0.72194348878695208,0.27805651121304791 Region score:0.52; TSS score:0.78; Unmatched score:0.61; Average GERP:3.8214198019801966 GeneName:DAG1; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000173402; TranscriptID:ENST00000545947; AnnoType:3PRIME_UTR; mirSVR-Score:-0.1555; mirSVR-E:-23.78 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000685503; AnnoType:REGULATORY; mirSVR-Score:-0.1555; mirSVR-E:-23.78 | NCRV0000003982 25775280 NONHSAT148083.2 rs8049367 C N/A 858 chinese ancestry cases//1,248 chinese ancestry controls; 1,663 chinese ancestry cases// 1,874 chinese ancestry controls EFO_0003959 N/A Associate Nonsyndromic cleft lip with or without cleft palate rs8049367-C of NONHSAT148083.2 is significantly associated with the nonsyndromic cleft lip with or without cleft palate by using GWAS analysis in 858 chinese ancestry cases//1,248 chinese ancestry controls; 1,663 chinese ancestry cases// 1,874 chinese ancestry controls(p-value = 9E-12 ;OR = 1.35). 0.4 Genome-wide association study identifies a new susceptibility locus for cleft lip with or without a cleft palate. genome-wide association analysis NONHSAT148083.2 lncRNA Cleft lip 0.33 GAATCGATAA(T > C)AAAAATATTA chr16: 3930444 0.5661,0.4339 0.62132071865443425,0.37867928134556574 Region score:0.32; TSS score:0.37; Unmatched score:0.17; Average GERP:0.03959405940594058 GeneName:AC005736.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000262185; TranscriptID:ENST00000571302; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003983 26112096 miR-196a2 rs11614913 G N/A 355 samples of peripheral blood were obtained from the patients with PCa and 353 samples from patients with benign prostatic hyperplasia (BPH).312 volunteers derived from general population who gave samples of buccal swabs were included in the control group. EFO_0001663 N/A no significance for risk prostate carcinoma rs11614913-G of hsa-mir-196a-2 and its dysfunction is not significantly associated with Prostate carcinoma by using case-control analysis in 355 samples of peripheral blood were obtained from the patients with PCa and 353 samples from patients with benign prostatic hyperplasia (BPH).312 volunteers derived from general population who gave samples of buccal swabs were included in the control group. -0.4 Assessment of association between genetic variants in microRNA genes hsa-miR-499, hsa-miR-196a2 and hsa-miR-27a and prostate cancer risk in Serbian population. case-control analysis hsa-mir-196a-2 miRNA Prostate carcinoma 0.181 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003983 30001553 miR-196a2 rs11614913 T N/a 2,227 prostate cancer patients and 2,331 control subjects in asian EFO_0001663 N/A Increasing risk Prostate cancer rs11614913-T of miR-196a2 and its dysfunction is significantly associated with the increasing risk of prostate cancer by using meta-analysis in 2,227 prostate cancer patients and 2,331 control subjects in Asian. 0.4 The Association Between Three Genetic Variants in MicroRNAs (Rs11614913, Rs2910164, Rs3746444) and Prostate Cancer Risk. meta-analysis hsa-mir-196a-2 miRNA Prostate cancer 0.181 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003983 20842445 hsa-mir196a2 rs11614913 T N/a 159 prostate cancer patients and 230 matched controls EFO_0001663 N/A Increasing risk Prostate cancer rs11614913-T of hsa-mir196a2 and its dysfunction is significantly associated with the increasing risk of prostate cancer by using case-control analysis in 159 prostate cancer patients and 230 matched controls. 0.4 Genetic variation in microRNA genes and prostate cancer risk in North Indian population. case-control analysis hsa-mir-196a-2 miRNA Prostate cancer 0.181 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003984 28334935 NONHSAT092201.2 rs8177248 C N/A 12,586 hispanic/latino individuals EFO_0006334 N/A Associate Iron status biomarkers (total iron binding capacity) rs8177248-C of NONHSAT092201.2 is significantly associated with the iron status biomarkers (total iron binding capacity) by using GWAS analysis in 12,586 hispanic/latino individuals(p-value = 4E-322 ;OR = 0.649). 0.4 Genome-wide association study of iron traits and relation to diabetes in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL): potential genomic intersection of iron and glucose regulation? genome-wide association analysis NONHSAT092201.2 lncRNA Total iron binding capacity 0.33 CCAACATTGC(C > T)ATGTTCTGTG chr3: 133760782 0.6893,0.3107 0.71968176605504587,0.28031823394495412 Region score:0.21; TSS score:0.2; Unmatched score:0.48; Average GERP:0.18703712871287143 GeneName:AC080128.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000244062; TranscriptID:ENST00000474389; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TF; CADD-Score:2; Consquence:intron; GeneID:ENSG00000091513; TranscriptID:ENST00000402696; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003985 22959728 NONHSAT162367.1 rs4913250 ? N/A 4,243 european ancestry cases EFO_0000253 N/A Associate Amyotrophic lateral sclerosis (c9orf72 mutation interaction) rs4913250-? of NONHSAT162367.1 is significantly associated with the amyotrophic lateral sclerosis (c9orf72 mutation interaction) by using GWAS analysis in 4,243 european ancestry cases(p-value = 3E-6 ;OR = 1.6393442). 0.4 Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1. genome-wide association analysis NONHSAT162367.1 lncRNA Amyotrophic lateral sclerosis 0.33 AGCTATGGAG(C > T)GAGAACCATA chr12: 67534444 0.6785,0.3215 0.72881625891946992,0.27118374108053007 Region score:0.22; TSS score:0.37; Unmatched score:0.28; Average GERP:-0.4714405940594061 GeneName:LINC02408; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000203585; TranscriptID:ENST00000400306; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000461372; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003986 23430406 miR-149 rs2292832 T N/a 680 glioma cases and 690 cancer-free controls EFO_0005543 N/A No significance for risk Gliomas rs2292832-T of miR-149 and its dysfunction is not significantly associated with gliomas by using case-control analysis in 680 glioma cases and 690 cancer-free controls. -0.4 Four common polymorphisms in microRNAs and the risk of adult glioma in a Chinese case-control study. case-control analysis hsa-mir-149 miRNA Glioma -0.33 CTGGGGCAGC(T > A,C)GGAACAACGC chr2: 240456086 0.3866,.,0.6134 0.31987449031600407,0.00025484199796126,0.67987066768603465 Region score:0.3; TSS score:0.39; Unmatched score:0.89; Average GERP:1.5002722772277222 GeneName:AC110619.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000218416; TranscriptID:ENST00000404891; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GPC1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000063660; TranscriptID:ENST00000264039; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR149; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207611; TranscriptID:ENST00000384879; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000133146; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003987 27863252 NONHSAT219162.1 rs3780378 T N/A 172,378 european ancestry individuals EFO_0007991 N/A Associate Eosinophil percentage of white cells rs3780378-T of NONHSAT219162.1 is significantly associated with the eosinophil percentage of white cells by using GWAS analysis in 172,378 european ancestry individuals(p-value = 5E-13 ;OR = 0.02570145). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. genome-wide association analysis NONHSAT219162.1 lncRNA Eosinophil percentage of leukocytes 0.33 GCCTCATGCA(C > T)ATCCATGTTG chr9: 5112288 0.4828,0.5172 0.50004778287461773,0.49995221712538226 Region score:0.35; TSS score:0.13; Unmatched score:0.37; Average GERP:-0.26690594059405937 GeneName:IGHEP2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000254017; TranscriptID:ENST00000519308; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:JAK2; CADD-Score:2; Consquence:intron; GeneID:ENSG00000096968; TranscriptID:ENST00000381652; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MTND4P14; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000236254; TranscriptID:ENST00000435799; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MTND5P14; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000230225; TranscriptID:ENST00000441481; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TCF3P1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000236567; TranscriptID:ENST00000423021; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003988 25640751 HOTAIR rs920778 T dominant 800 gastric cancer patients and 1600 controls EFO_0000178 N/A increasing risk gastric carcinoma rs920778-T of HOTAIR and its dysfunction is significantly associated with the increasing risk of Gastric carcinoma by using case-control analysis in 800 gastric cancer patients and 1600 controls 0.9 A functional lncRNA HOTAIR genetic variant contributes to gastric cancer susceptibility. case-control analysis HOTAIR lncRNA Gastric carcinoma 0.593 - - - - - - NCRV0000003989 26384301 HOTAIR rs4759314 G N/A 1,275 GC cases and 1,646 cancer-free controls (753 cases and 1,057 controls for the test set, with additional 522 cases and 589 controls for the validation set) in a Chinese population EFO_0000178 N/A increasing risk gastric carcinoma rs4759314-G of HOTAIR and its dysfunction is significantly associated with the increasing risk of Gastric carcinoma by using case-control analysis in 1,275 GC cases and 1,646 cancer-free controls (753 cases and 1,057 controls for the test set, with additional 522 cases and 589 controls for the validation set) in a Chinese population 0.4 The association analysis of lncRNA HOTAIR genetic variants and gastric cancer risk in a Chinese population. case-control analysis HOTAIR lncRNA Gastric carcinoma 0.33 - - - - - - NCRV0000003990 27683269 HOTAIR rs2366152 C N/A 23 HPV16 positive CaCx cases, 8 HPV16 positive non-malignant samples, 8 HPV negative controls EFO_1002015 N/A decreasing risk HPV16-related cervical cancer pathogenesis rs2366152-C of HOTAIR and its dysfunction is significantly associated with the decreasing risk of Hpv-associated cervical carcinoma by using case-control analysis in 23 HPV16 positive CaCx cases, 8 HPV16 positive non-malignant samples, 8 HPV negative controls 0.9 Identification of genetic variation in the lncRNA HOTAIR associated with HPV16-related cervical cancer pathogenesis. case-control analysis HOTAIR lncRNA Hpv-associated cervical carcinoma 0.593 - - - - - - NCRV0000003991 26967389 HOTAIR rs7958904 C N/A 900 OS cases and 900 controls in chinese population EFO_0000637 N/A decreasing risk osteosarcoma rs7958904-C of HOTAIR and its dysfunction is significantly associated with the decreasing risk of Osteosarcoma by using case-control analysis in 900 OS cases and 900 controls in chinese population 0.4 Genetic variants of lncRNA HOTAIR contribute to the risk of osteosarcoma. case-control analysis HOTAIR lncRNA Osteosarcoma 0.33 - - - - - - NCRV0000003992 30628890 lnc-NR2F1(FLJ42709, or NR2F1-AS1) t(5:12)(q15;q15) t(5:12)(q15;q15) Dominant 29,085 patients diagnosed with a spectrum of neurodevelopmental disorders and craniofacial congenital malformations, and 19,584 controls EFO_0010642 N/A Associate Neurodevelopmental disorder t(5:12)(q15;q15)-t(5:12)(q15;q15) of FLJ42709 and its dysfunction is significantly associated with Neurodevelopmental disorder by using Pedigree analysis in 29,085 patients diagnosed with a spectrum of neurodevelopmental disorders and craniofacial congenital malformations, and 19,584 controls 2 The novel lncRNA lnc-NR2F1 is pro-neurogenic and mutated in human neurodevelopmental disorders. Pedigree analysis FLJ42709 lncRNA Neurodevelopmental disorder 0.865 - - - - - - NCRV0000003993 31489712 PARP1 rs1136410 G recessive 605 patients with glioma and 1300 cancer-free individuals EFO_0005543 N/A better prognosis glioma rs1136410-G of PARP1 and its dysfunction is significantly associated with the better prognosis of Glioma by using two-stage association study in 605 patients with glioma and 1300 cancer-free individuals 0.4 Impact of four lncRNA polymorphisms (rs2151280, rs7763881, rs1136410, and rs3787016) on glioma risk and prognosis: A case-control study. two-stage association study PARP1 N/A Glioma 0.33 AGCATTTCCA(A > G)CCTTGGCCTG chr1:226367601 0.8031,0.1969 0.83974420234454638,0.16025579765545361 Region score:0.48;TSS score:0.34;Unmatched score:0.62;Average GERP:5.56 GeneName:PARP1; CADD_score:7; Consquence:non_synonymous; GeneID:ENSG00000143799; TranscriptID:ENST00000366794; AnnoType:CodingTranscript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003994 31322790 miR-6503 rs611418 T N/A late-onset AD including 455,258 individuals of European ancestry EFO_0000249 N/A decreasing risk Alzheimer's disease rs611418-T of hsa-mir-6503 and its dysfunction is significantly associated with the decreasing risk of Alzheimers disease by using genome-wide association analysis in late-onset AD including 455,258 individuals of European ancestry 0.4 A functional variant in the miR-142 promoter modulating its expression and conferring risk of Alzheimer disease. genome-wide association analysis hsa-mir-6503 miRNA Alzheimers disease 0.33 GAATAGCCAC(C > T)AAAATGGGAA chr11:60243540 0.3472,0.6528 0.33626401630988786,0.66373598369011213 Region score:0.27;TSS score:0.41;Unmatched score:0.49;Average GERP:1.7025 GeneName:MS4A4E; CADD_score:1; Consquence:upstream; GeneID:ENSG00000214787; TranscriptID:ENST00000532442; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MS4A4A; CADD_score:2; Consquence:intronic; GeneID:ENSG00000110079; TranscriptID:ENST00000649552; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003995 30980423 LINC00607/LINC01614 rs3113503 ? N/A 1294 cases with NSCLC and 1729 healthy controls EFO_0003060 N/A no significance for risk non-small cell lung carcinoma rs3113503-? of LINC01614 and its dysfunction is not significantly associated with Non-small cell lung carcinoma by using two-stage association study in 1294 cases with NSCLC and 1729 healthy controls -0.4 SNPs in LncRNA genes are associated with non-small cell lung cancer in a Chinese population. two-stage association study LINC01614 lncRNA Non-small cell lung carcinoma -0.33 CTATACAATG(G > C,T)ACAGGAAAAG chr2:215719150 0.6799,0.3201,. 0.74835149082568807,0.25164054536187563,0.00000796381243628 Region score:0.41;TSS score:0.52;Unmatched score:0.8;Average GERP:3.735 GeneName:LINC01614; CADD_score:5; Consquence:NONCODING_CHANGE; GeneID:ENSG00000230838; TranscriptID:ENST00000415479; AnnoType:NonCodingTranscript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LINC00607; CADD_score:2; Consquence:INTRONIC; GeneID:ENSG00000235770; TranscriptID:ENST00000445174; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LINC01614; CADD_score:5; Consquence:NONCODING_CHANGE; GeneID:ENSG00000230838; TranscriptID:ENST00000415479; AnnoType:NonCodingTranscript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LINC00607; CADD_score:2; Consquence:INTRONIC; GeneID:ENSG00000235770; TranscriptID:ENST00000445174; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003996 30980423 CASC21/CASC8 rs35132843 ? N/A 1294 cases with NSCLC and 1729 healthy controls EFO_0003060 N/A no significance for risk non-small cell lung carcinoma rs35132843-? of CASC8 and its dysfunction is not significantly associated with Non-small cell lung carcinoma by using two-stage association study in 1294 cases with NSCLC and 1729 healthy controls -0.4 SNPs in LncRNA genes are associated with non-small cell lung cancer in a Chinese population. two-stage association study CASC8 lncRNA Non-small cell lung carcinoma -0.33 GGGACAGCTT(T > G)GTGTCTGCTT chr8:127289874 0.8716,0.1284 0.92828586901121304,0.07171413098878695 Region score:0.58;TSS score:0.45;Unmatched score:0.54;Average GERP:1.476 GeneName:AC018714.1; CADD_score:1; Consquence:upstream; GeneID:ENSG00000271509; TranscriptID:ENST00000605028; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CASC8; CADD_score:5; Consquence:noncoding_change; GeneID:ENSG00000246228; TranscriptID:ENST00000502082; AnnoType:NonCodingTranscript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PCAT1; CADD_score:2; Consquence:intronic; GeneID:ENSG00000253438; TranscriptID:ENST00000646670; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003997 30820140 RP1-140A9.1(ENSG00000231050) rs763295804 ? N/A a large Volkmann cataract family Orphanet_98983 N/A increasing risk Congenital cataract, Volkmann type rs763295804-? of NONHSAT000372.1 and its dysfunction is significantly associated with the increasing risk of Congenital cataract, Volkmann type by using Pedigree analysis in a large Volkmann cataract family 1.4 A splice-site variant in the lncRNA gene RP1-140A9.1 cosegregates in the large Volkmann cataract family. Pedigree analysis NONHSAT000372.1 lncRNA Congenital cataract, Volkmann type 0.753 GACCTCCAGG(G > C)TGAGGAAGGG chr1:1891852 0 0.99915583588175331,0.00084416411824668 - GeneName:GNB1; CADD_score:1; Consquence:upstream; GeneID:ENSG00000078369; TranscriptID:ENST00000610897; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD_score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000344744; AnnoType:RegulatoryFeature; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AL109917.1; CADD_score:6; Consquence:canonical_splice; GeneID:ENSG00000231050; TranscriptID:ENST00000412228; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003998 31059093 miR鈥?37 rs2660304 A N/A 155 subjects EFO_0000275 N/A increasing risk atrial fibrillation rs2660304-A of hsa-mir-137 and its dysfunction is significantly associated with the increasing risk of Atrial fibrillation by using two-stage association study in 155 subjects 0.4 Genetic variant in the promoter region of microRNA鈥?37 reduces the warfarin maintenance dose in patients with atrial fibrillation. two-stage association study hsa-mir-137 miRNA Atrial fibrillation 0.33 TACCCAGTCT(G > T)GTCTCGGCCA chr1: 98046571 0.1532,0.8468 0.16120349133537206,0.83879650866462793 Region score:0.49; TSS score:0.58; Unmatched score:0.91; Average GERP:2.4234840594059386 GeneName:MIR137; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284202; TranscriptID:ENST00000385223; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR137HG; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000225206; TranscriptID:ENST00000634594; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR2682; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284247; TranscriptID:ENST00000580305; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000010436; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000003999 31876746 miR-143/miR-145 rs4705342 C N/A 156 PCa cases and 188 control subjects EFO_0001663 N/A no significance for risk prostate carcinoma rs4705342-C of hsa-mir-145 and its dysfunction is not significantly associated with Prostate carcinoma by using two-stage association study in 156 PCa cases and 188 control subjects -0.4 Association of Hsa-miR-23a rs3745453 variation with prostate cancer risk among Chinese Han population: A case-control study. two-stage association study hsa-mir-145 miRNA Prostate carcinoma -0.33 TAAGTACCAT(T > C,G)GAATGATGCT chr5:149428408 0.8882,0.1118,. 0.89885161824668705,0.10113245412844036,0.00001592762487257 Region score:0.28;TSS score:0.3;Unmatched score:0.25;Average GERP:-0.905 GeneName:AC131025.2; CADD_score:1; Consquence:UPSTREAM; GeneID:ENSG00000275871; TranscriptID:ENST00000622374; AnnoType:Intergenic; mirSVR-Score:-0.0003; mirSVR-E:-9.35 | GeneName:MIR145; CADD_score:1; Consquence:UPSTREAM; GeneID:ENSG00000276365; TranscriptID:ENST00000384967; AnnoType:Intergenic; mirSVR-Score:-0.0003; mirSVR-E:-9.35 | GeneName:MIR143; CADD_score:1; Consquence:UPSTREAM; GeneID:ENSG00000284182; TranscriptID:ENST00000385300; AnnoType:Intergenic; mirSVR-Score:-0.0003; mirSVR-E:-9.35 | GeneName:CARMN; CADD_score:5; Consquence:NONCODING_CHANGE; GeneID:ENSG00000249669; TranscriptID:ENST00000602964; AnnoType:NonCodingTranscript; mirSVR-Score:-0.0003; mirSVR-E:-9.35 | GeneName:AC131025.2; CADD_score:1; Consquence:UPSTREAM; GeneID:ENSG00000275871; TranscriptID:ENST00000622374; AnnoType:Intergenic; mirSVR-Score:-0.0003; mirSVR-E:-9.35 | GeneName:MIR145; CADD_score:1; Consquence:UPSTREAM; GeneID:ENSG00000276365; TranscriptID:ENST00000384967; AnnoType:Intergenic; mirSVR-Score:-0.0003; mirSVR-E:-9.35 | GeneName:MIR143; CADD_score:1; Consquence:UPSTREAM; GeneID:ENSG00000284182; TranscriptID:ENST00000385300; AnnoType:Intergenic; mirSVR-Score:-0.0003; mirSVR-E:-9.35 | GeneName:CARMN; CADD_score:5; Consquence:NONCODING_CHANGE; GeneID:ENSG00000249669; TranscriptID:ENST00000602964; AnnoType:NonCodingTranscript; mirSVR-Score:-0.0003; mirSVR-E:-9.35 | NCRV0000004000 31876746 miR-143/miR-145 rs353292 T N/A 156 PCa cases and 188 control subjects EFO_0001663 N/A no significance for risk prostate carcinoma rs353292-T of hsa-mir-143 and its dysfunction is not significantly associated with Prostate carcinoma by using two-stage association study in 156 PCa cases and 188 control subjects -0.4 Association of Hsa-miR-23a rs3745453 variation with prostate cancer risk among Chinese Han population: A case-control study. two-stage association study hsa-mir-143 miRNA Prostate carcinoma -0.33 CAGCCTGAGG(G > A)CAATGGGGAG chr5: 149428245 0.7198,0.2802 0.66234231651376146,0.33765768348623853 Region score:0.34; TSS score:0.26; Unmatched score:0.24; Average GERP:-0.7598297029702971 GeneName:AC131025.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000275871; TranscriptID:ENST00000622374; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0004; mirSVR-E:-15.10 | GeneName:CARMN; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000249669; TranscriptID:ENST00000602964; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0004; mirSVR-E:-15.10 | GeneName:MIR143; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284182; TranscriptID:ENST00000385300; AnnoType:UPSTREAM; mirSVR-Score:-0.0004; mirSVR-E:-15.10 | GeneName:MIR145; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000276365; TranscriptID:ENST00000384967; AnnoType:UPSTREAM; mirSVR-Score:-0.0004; mirSVR-E:-15.10 | NCRV0000004001 31876746 miR-143/miR-145 rs353292 T N/A 156 PCa cases and 188 control subjects EFO_0001663 N/A no significance for risk prostate carcinoma rs353292-T of hsa-mir-145 and its dysfunction is not significantly associated with Prostate carcinoma by using two-stage association study in 156 PCa cases and 188 control subjects -0.4 Association of Hsa-miR-23a rs3745453 variation with prostate cancer risk among Chinese Han population: A case-control study. two-stage association study hsa-mir-145 miRNA Prostate carcinoma -0.33 CAGCCTGAGG(G > A)CAATGGGGAG chr5: 149428245 0.7198,0.2802 0.66234231651376146,0.33765768348623853 Region score:0.34; TSS score:0.26; Unmatched score:0.24; Average GERP:-0.7598297029702971 GeneName:AC131025.2; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000275871; TranscriptID:ENST00000622374; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0004; mirSVR-E:-15.10 | GeneName:CARMN; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000249669; TranscriptID:ENST00000602964; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0004; mirSVR-E:-15.10 | GeneName:MIR143; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284182; TranscriptID:ENST00000385300; AnnoType:UPSTREAM; mirSVR-Score:-0.0004; mirSVR-E:-15.10 | GeneName:MIR145; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000276365; TranscriptID:ENST00000384967; AnnoType:UPSTREAM; mirSVR-Score:-0.0004; mirSVR-E:-15.10 | NCRV0000004002 31597163 U1 g.3A>C C Dominant 2,583 donors across 37 tumour types was collected from the ICGC Data Coordination Center (ICGC DCC), 141 normal-tumour paired whole-genome sequencing and 299 RNA-seq from 318 donors of CLL锛?15 normal-tumour paired whole-genome sequencing and 387 tumour RNA-seq from 613 HCC donors of HCC EFO_0000311 N/A poor prognosis cancer g.3A>C-C of U1 and its dysfunction is significantly associated with the poor prognosis of Cancer by using two-stage association study in 2,583 donors across 37 tumour types was collected from the ICGC Data Coordination Center (ICGC DCC), 141 normal-tumour paired whole-genome sequencing and 299 RNA-seq from 318 donors of CLL锛?15 normal-tumour paired whole-genome sequencing and 387 tumour RNA-seq from 613 HCC donors of HCC 1.4 The U1 spliceosomal RNA is recurrently mutated in multiple cancers. two-stage association study U1 snoRNA Cancer 0.753 - - - - - - NCRV0000004003 31549851 TP73-AS1 rs1181865 G Dominant 1000 GC cases and 1000 controls EFO_0000178 N/A increasing risk gastric carcinoma rs1181865-G of TP73-AS1 and its dysfunction is significantly associated with the increasing risk of Gastric carcinoma by using two-stage association study in 1000 GC cases and 1000 controls 0.4 Association of TP73-AS1 gene polymorphisms with the risk and survival of gastric cancer in a Chinese Han Population. two-stage association study TP73-AS1 lncRNA Gastric carcinoma 0.33 CTGGCCCCAT(T > A,C)CTTCCTGGCT chr1:3736862 0.2434,0.7566 0.16482702599388379,0.83517297400611620 Region score:0.29;TSS score:0.22;Unmatched score:0.51;Average GERP:0.105 GeneName:TP73; CADD_score:1; Consquence:DOWNSTREAM; GeneID:ENSG00000078900; TranscriptID:ENST00000378295; AnnoType:Intergenic; mirSVR-Score:-0.0025; mirSVR-E:-19.48 | GeneName:RF02197; CADD_score:1; Consquence:UPSTREAM; GeneID:ENSG00000276189; TranscriptID:ENST00000611447; AnnoType:Intergenic; mirSVR-Score:-0.0025; mirSVR-E:-19.48 | GeneName:TP73-AS1; CADD_score:5; Consquence:NONCODING_CHANGE; GeneID:ENSG00000227372; TranscriptID:ENST00000452079; AnnoType:NonCodingTranscript; mirSVR-Score:-0.0025; mirSVR-E:-19.48 | GeneName:TP73; CADD_score:1; Consquence:DOWNSTREAM; GeneID:ENSG00000078900; TranscriptID:ENST00000378295; AnnoType:Intergenic; mirSVR-Score:-0.0025; mirSVR-E:-19.48 | GeneName:RF02197; CADD_score:1; Consquence:UPSTREAM; GeneID:ENSG00000276189; TranscriptID:ENST00000611447; AnnoType:Intergenic; mirSVR-Score:-0.0025; mirSVR-E:-19.48 | GeneName:TP73-AS1; CADD_score:5; Consquence:NONCODING_CHANGE; GeneID:ENSG00000227372; TranscriptID:ENST00000452079; AnnoType:NonCodingTranscript; mirSVR-Score:-0.0025; mirSVR-E:-19.48 | NCRV0000004004 31549851 TP73-AS1 rs9800 C N/A 1000 GC cases and 1000 controls EFO_0000178 N/A no significance for risk gastric carcinoma rs9800-C of TP73-AS1 and its dysfunction is not significantly associated with Gastric carcinoma by using two-stage association study in 1000 GC cases and 1000 controls -0.4 Association of TP73-AS1 gene polymorphisms with the risk and survival of gastric cancer in a Chinese Han Population. two-stage association study TP73-AS1 lncRNA Gastric carcinoma -0.33 GGGCGGCTCC(C > A,G)TCACAGGCAG chr1:3736258 0.5683,.,0.4317 0.44619648318042813,0.00007167431192660,0.55373184250764525 Region score:0.35;TSS score:0.48;Unmatched score:0.56;Average GERP:1.855 GeneName:TP73; CADD_score:1; Consquence:DOWNSTREAM; GeneID:ENSG00000078900; TranscriptID:ENST00000378295; AnnoType:Intergenic; mirSVR-Score:-0.0059; mirSVR-E:-18.61 | GeneName:RF02197; CADD_score:1; Consquence:UPSTREAM; GeneID:ENSG00000276189; TranscriptID:ENST00000611447; AnnoType:Intergenic; mirSVR-Score:-0.0059; mirSVR-E:-18.61 | GeneName:TP73-AS1; CADD_score:5; Consquence:NONCODING_CHANGE; GeneID:ENSG00000227372; TranscriptID:ENST00000452079; AnnoType:NonCodingTranscript; mirSVR-Score:-0.0059; mirSVR-E:-18.61 | GeneName:NA; CADD_score:4; Consquence:REGULATORY; GeneID:NA; TranscriptID:ENSR00000345323; AnnoType:RegulatoryFeature; mirSVR-Score:-0.0059; mirSVR-E:-18.61 | GeneName:TP73; CADD_score:1; Consquence:DOWNSTREAM; GeneID:ENSG00000078900; TranscriptID:ENST00000378295; AnnoType:Intergenic; mirSVR-Score:-0.0059; mirSVR-E:-18.61 | GeneName:RF02197; CADD_score:1; Consquence:UPSTREAM; GeneID:ENSG00000276189; TranscriptID:ENST00000611447; AnnoType:Intergenic; mirSVR-Score:-0.0059; mirSVR-E:-18.61 | GeneName:TP73-AS1; CADD_score:5; Consquence:NONCODING_CHANGE; GeneID:ENSG00000227372; TranscriptID:ENST00000452079; AnnoType:NonCodingTranscript; mirSVR-Score:-0.0059; mirSVR-E:-18.61 | GeneName:NA; CADD_score:4; Consquence:REGULATORY; GeneID:NA; TranscriptID:ENSR00000345323; AnnoType:RegulatoryFeature; mirSVR-Score:-0.0059; mirSVR-E:-18.61 | NCRV0000004005 31549851 TP73-AS1 rs3737589 G Dominant 1000 GC cases and 1000 controls EFO_0000178 N/A increased risk and poor prognosis gastric carcinoma rs3737589-G of TP73-AS1 and its dysfunction is significantly associated with the increasing risk and poor prognosis of Gastric carcinoma by using two-stage association study in 1000 GC cases and 1000 controls 0.9 Association of TP73-AS1 gene polymorphisms with the risk and survival of gastric cancer in a Chinese Han Population. two-stage association study TP73-AS1 lncRNA Gastric carcinoma 0.593 AGTTACCCTA(A > G)CAGACCAGTA chr1:3746281 0.613,0.387 0.62378950050968399,0.37621049949031600 Region score:0.29;TSS score:0.29;Unmatched score:0.83;Average GERP:-0.27 GeneName:CCDC27; CADD_score:1; Consquence:upstream; GeneID:ENSG00000162592; TranscriptID:ENST00000636250; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TP73-AS1; CADD_score:5; Consquence:noncoding_change; GeneID:ENSG00000227372; TranscriptID:ENST00000452079; AnnoType:NonCodingTranscript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD_score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000000513; AnnoType:RegulatoryFeature; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD_score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000345327; AnnoType:RegulatoryFeature; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004006 31549851 TP73-AS1 rs2298222 A N/A 1000 GC cases and 1000 controls EFO_0000178 N/A no significance for risk gastric carcinoma rs2298222-A of TP73-AS1 and its dysfunction is not significantly associated with Gastric carcinoma by using two-stage association study in 1000 GC cases and 1000 controls -0.4 Association of TP73-AS1 gene polymorphisms with the risk and survival of gastric cancer in a Chinese Han Population. two-stage association study TP73-AS1 lncRNA Gastric carcinoma -0.33 GAGGCCGCCG(G > A)GGAACAGGCA chr1:3743093 0.7346,0.2654 0.72750222986748216,0.27249777013251783 Region score:0.46;TSS score:0.39;Unmatched score:0.51;Average GERP:1.5185 GeneName:CCDC27; CADD_score:1; Consquence:upstream; GeneID:ENSG00000162592; TranscriptID:ENST00000636250; AnnoType:Intergenic; mirSVR-Score:-0.0035; mirSVR-E:-33.04 | GeneName:TP73-AS1; CADD_score:5; Consquence:noncoding_change; GeneID:ENSG00000227372; TranscriptID:ENST00000452079; AnnoType:NonCodingTranscript; mirSVR-Score:-0.0035; mirSVR-E:-33.04 | NCRV0000004007 31549851 TP73-AS1 rs7515164 A N/A 1000 GC cases and 1000 controls EFO_0000178 N/A no significance for risk gastric carcinoma rs7515164-A of TP73-AS1 and its dysfunction is not significantly associated with Gastric carcinoma by using two-stage association study in 1000 GC cases and 1000 controls -0.4 Association of TP73-AS1 gene polymorphisms with the risk and survival of gastric cancer in a Chinese Han Population. two-stage association study TP73-AS1 lncRNA Gastric carcinoma -0.33 TCTGAAGTCC(C > A)CATCCTGAAA chr1:3738183 0.8281,0.1719 0.84993788226299694,0.15006211773700305 Region score:0.33;TSS score:0.04;Unmatched score:0.39;Average GERP:1.48 GeneName:TP73; CADD_score:1; Consquence:downstream; GeneID:ENSG00000078900; TranscriptID:ENST00000378295; AnnoType:Intergenic; mirSVR-Score:-0.0019; mirSVR-E:-12.95 | GeneName:RF02197; CADD_score:1; Consquence:downstream; GeneID:ENSG00000276189; TranscriptID:ENST00000611447; AnnoType:Intergenic; mirSVR-Score:-0.0019; mirSVR-E:-12.95 | GeneName:TP73-AS1; CADD_score:5; Consquence:noncoding_change; GeneID:ENSG00000227372; TranscriptID:ENST00000452079; AnnoType:NonCodingTranscript; mirSVR-Score:-0.0019; mirSVR-E:-12.95 | NCRV0000004008 29047230 TMCC1-AS1 Amplification amplification dominant hepatocellular carcinoma and normal tissues using TCGA RNA sequencing data EFO_0000182 N/A poor prognosis hepatocellular carcinoma Amplification-amplification of TMCC1-AS1 and its dysfunction is significantly associated with the poor prognosis of Hepatocellular carcinoma by using case-control analysis in hepatocellular carcinoma and normal tissues using TCGA RNA sequencing data 0.4 A comprehensive genome-wide analysis of long noncoding RNA expression profile in hepatocellular carcinoma. case-control analysis TMCC1-AS1 lncRNA Hepatocellular carcinoma 0.33 - - - - - - NCRV0000004009 27951730 SRA1 rs2289818 G N/A 313 AML patients EFO_0000222 N/A no significance for prognosis acute myeloid leukemia rs2289818-G of SRA1 and its dysfunction is not significantly associated with Acute myeloid leukemia by using analysis of sequence variation in 313 AML patients -0.4 Long non-coding RNA GAS5 polymorphism predicts a poor prognosis of acute myeloid leukemia in Chinese patients via affecting hematopoietic reconstitution. analysis of sequence variation SRA1 lncRNA Acute myeloid leukemia -0.33 TTCGTCGTAC(C > G)AGGAACTGCT chr15:22912200 0.5435,0.4565 0.55459193425076452,0.44540806574923547 Region score:0.29;TSS score:0.14;Unmatched score:0.44;Average GERP:4.525 GeneName:CYFIP1; CADD_score:5; Consquence:synonymous; GeneID:ENSG00000273749; TranscriptID:ENST00000617928; AnnoType:CodingTranscript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004010 27951730 SRA1 rs11633474 G N/A 313 AML patients EFO_0000222 N/A no significance for prognosis acute myeloid leukemia rs11633474-G of SRA1 and its dysfunction is not significantly associated with Acute myeloid leukemia by using analysis of sequence variation in 313 AML patients -0.4 Long non-coding RNA GAS5 polymorphism predicts a poor prognosis of acute myeloid leukemia in Chinese patients via affecting hematopoietic reconstitution. analysis of sequence variation SRA1 lncRNA Acute myeloid leukemia -0.33 CCCAAATAGC(C > T)GGAACCACCT chr15:22933876 0.6699,0.3301 0.57228752548419979,0.42771247451580020 Region score:0.4;TSS score:0.33;Unmatched score:0.52;Average GERP:-2.835 GeneName:CYFIP1; CADD_score:5; Consquence:synonymous; GeneID:ENSG00000273749; TranscriptID:ENST00000617928; AnnoType:CodingTranscript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD_score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000074011; AnnoType:RegulatoryFeature; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004011 27951730 SRA1 rs11635916 G N/A 313 AML patients EFO_0000222 N/A no significance for prognosis acute myeloid leukemia rs11635916-G of SRA1 and its dysfunction is not significantly associated with Acute myeloid leukemia by using analysis of sequence variation in 313 AML patients -0.4 Long non-coding RNA GAS5 polymorphism predicts a poor prognosis of acute myeloid leukemia in Chinese patients via affecting hematopoietic reconstitution. analysis of sequence variation SRA1 lncRNA Acute myeloid leukemia -0.33 TCGCGCCTCC(C > T)TTAACAAAGC chr15:22979731 0.8209,0.1791 0.80118342252803261,0.19881657747196738 Region score:0.35;TSS score:0.3;Unmatched score:0.83;Average GERP:2.36 GeneName:TUBGCP5; CADD_score:1; Consquence:downstream; GeneID:ENSG00000275835; TranscriptID:ENST00000614508; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD_score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000509972; AnnoType:RegulatoryFeature; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CYFIP1; CADD_score:2; Consquence:intronic; GeneID:ENSG00000273749; TranscriptID:ENST00000617928; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004012 27951730 SRA1 rs28364574 T N/A 313 AML patients EFO_0000222 N/A no significance for prognosis acute myeloid leukemia rs28364574-T of SRA1 and its dysfunction is not significantly associated with Acute myeloid leukemia by using analysis of sequence variation in 313 AML patients -0.4 Long non-coding RNA GAS5 polymorphism predicts a poor prognosis of acute myeloid leukemia in Chinese patients via affecting hematopoietic reconstitution. analysis of sequence variation SRA1 lncRNA Acute myeloid leukemia -0.33 AGCGCGAAGG(G > A)AACGGGGTCC chr15:22980666 0.9535,0.04653 0.94442851681957186,0.05557148318042813 Region score:0.2;TSS score:0.37;Unmatched score:0.91;Average GERP:1.378 GeneName:TUBGCP5; CADD_score:1; Consquence:downstream; GeneID:ENSG00000275835; TranscriptID:ENST00000614508; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CYFIP1; CADD_score:1; Consquence:upstream; GeneID:ENSG00000273749; TranscriptID:ENST00000617928; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD_score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000509972; AnnoType:RegulatoryFeature; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004013 20588305 SNORD116 Deletion del Dominant an 11-year-old child expressing the major components of the PWS phenotype Orphanet_739 N/A increasing risk Prader-Willi syndrome Deletion-del of SNORD116 and its dysfunction is significantly associated with the increasing risk of Prader-willi syndrome by using analysis of sequence variation in an 11-year-old child expressing the major components of the PWS phenotype 0.4 Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome. analysis of sequence variation SNORD116 snoRNA Prader-willi syndrome 0.33 - - - - - - NCRV0000004014 29047230 SNHG7 Amplification amplification dominant hepatocellular carcinoma and normal tissues using TCGA RNA sequencing data EFO_0000182 N/A poor prognosis hepatocellular carcinoma Amplification-amplification of SNHG7 and its dysfunction is significantly associated with the poor prognosis of Hepatocellular carcinoma by using case-control analysis in hepatocellular carcinoma and normal tissues using TCGA RNA sequencing data 0.9 A comprehensive genome-wide analysis of long noncoding RNA expression profile in hepatocellular carcinoma. case-control analysis SNHG7 snoRNA Hepatocellular carcinoma 0.593 - - - - - - NCRV0000004015 31322790 lnc-SLTM-2 rs77162419 A N/A late-onset AD including 455,258 individuals of European ancestry EFO_0000249 N/A decreasing risk Alzheimer's disease rs77162419-A of SLTM and its dysfunction is significantly associated with the decreasing risk of Alzheimers disease by using genome-wide association analysis in late-onset AD including 455,258 individuals of European ancestry 0.4 A functional variant in the miR-142 promoter modulating its expression and conferring risk of Alzheimer disease. genome-wide association analysis SLTM Intron Variant Alzheimers disease 0.33 GAGGTTGGAC(C > A)AGTATTCCAG chr15:58926990 0.9459,0.05411 0.93601873088685015,0.06398126911314984 Region score:0.51;TSS score:0.28;Unmatched score:0.19;Average GERP:3.3 GeneName:SLTM; CADD_score:2; Consquence:intronic; GeneID:ENSG00000137776; TranscriptID:ENST00000380516; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RNF111; CADD_score:2; Consquence:intronic; GeneID:ENSG00000157450; TranscriptID:ENST00000559757; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004016 29047230 RP1-228H13.5 Amplification amplification dominant hepatocellular carcinoma and normal tissues using TCGA RNA sequencing data EFO_0000182 N/A poor prognosis hepatocellular carcinoma Amplification-amplification of RP1-228H13.5 and its dysfunction is significantly associated with the poor prognosis of Hepatocellular carcinoma by using case-control analysis in hepatocellular carcinoma and normal tissues using TCGA RNA sequencing data 0.4 A comprehensive genome-wide analysis of long noncoding RNA expression profile in hepatocellular carcinoma. case-control analysis RP1-228H13.5 lncRNA Hepatocellular carcinoma 0.33 - - - - - - NCRV0000004017 31283072 RP11-462G12.2 Rs2262251 C Dominant 1,314 cases and 1,259 controls EFO_0003959 N/A increasing risk cleft lip Rs2262251-C of RP11-462G12.2 and its dysfunction is significantly associated with the increasing risk of Cleft lip by using two-stage association study in 1,314 cases and 1,259 controls 1.4 Rs2262251 in lncRNA RP11-462G12.2 is associated with nonsyndromic cleft lip with/without cleft palate. two-stage association study RP11-462G12.2 lncRNA Cleft lip 0.753 GGTGGCGGGC(C > G,T)CCCTGTAATC chr16:3931622 - - Region score:0.4;TSS score:0.19;Unmatched score:0.26;Average GERP:0.158 GeneName:AC005736.1; CADD_score:5; Consquence:NONCODING_CHANGE; GeneID:ENSG00000262185; TranscriptID:ENST00000571302; AnnoType:NonCodingTranscript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC005736.1; CADD_score:5; Consquence:NONCODING_CHANGE; GeneID:ENSG00000262185; TranscriptID:ENST00000571302; AnnoType:NonCodingTranscript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004018 29047230 RP11-307C12.11 Deletion del dominant hepatocellular carcinoma EFO_0000182 N/A poor prognosis hepatocellular carcinoma Deletion-del of RP11-307C12.11 and its dysfunction is significantly associated with the poor prognosis of Hepatocellular carcinoma by using analysis of sequence variation in hepatocellular carcinoma 0.4 A comprehensive genome-wide analysis of long noncoding RNA expression profile in hepatocellular carcinoma. analysis of sequence variation RP11-307C12.11 lncRNA Hepatocellular carcinoma 0.33 - - - - - - NCRV0000004019 30980423 RNF144A-AS1 rs1466099 ? N/A 1294 cases with NSCLC and 1729 healthy controls EFO_0003060 N/A no significance for risk non-small cell lung carcinoma rs1466099-? of RNF144A-AS1 and its dysfunction is not significantly associated with Non-small cell lung carcinoma by using two-stage association study in 1294 cases with NSCLC and 1729 healthy controls -0.4 SNPs in LncRNA genes are associated with non-small cell lung cancer in a Chinese population. two-stage association study RNF144A-AS1 lncRNA Non-small cell lung carcinoma -0.33 GGGGTCTGCG(G > A,T)GCAGAGCAGG chr2:6917071 0.7885,0.2115 0.75997865698267074,0.24002134301732925 Region score:0.37;TSS score:0.39;Unmatched score:0.89;Average GERP:-0.11 GeneName:RNF144A; CADD_score:1; Consquence:UPSTREAM; GeneID:ENSG00000151692; TranscriptID:ENST00000320892; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RNF144A-AS1; CADD_score:5; Consquence:NONCODING_CHANGE; GeneID:ENSG00000228203; TranscriptID:ENST00000424351; AnnoType:NonCodingTranscript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD_score:4; Consquence:REGULATORY; GeneID:NA; TranscriptID:ENSR00000112233; AnnoType:RegulatoryFeature; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD_score:4; Consquence:REGULATORY; GeneID:NA; TranscriptID:ENSR00000289601; AnnoType:RegulatoryFeature; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RNF144A; CADD_score:1; Consquence:UPSTREAM; GeneID:ENSG00000151692; TranscriptID:ENST00000320892; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RNF144A-AS1; CADD_score:5; Consquence:NONCODING_CHANGE; GeneID:ENSG00000228203; TranscriptID:ENST00000424351; AnnoType:NonCodingTranscript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD_score:4; Consquence:REGULATORY; GeneID:NA; TranscriptID:ENSR00000112233; AnnoType:RegulatoryFeature; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD_score:4; Consquence:REGULATORY; GeneID:NA; TranscriptID:ENSR00000289601; AnnoType:RegulatoryFeature; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004020 29047230 PVT1 Amplification amplification dominant hepatocellular carcinoma and normal tissues using TCGA RNA sequencing data EFO_0000182 N/A poor prognosis hepatocellular carcinoma Amplification-amplification of PVT1 and its dysfunction is significantly associated with the poor prognosis of Hepatocellular carcinoma by using case-control analysis in hepatocellular carcinoma and normal tissues using TCGA RNA sequencing data 0.9 A comprehensive genome-wide analysis of long noncoding RNA expression profile in hepatocellular carcinoma. case-control analysis PVT1 lncRNA Hepatocellular carcinoma 0.593 - - - - - - NCRV0000004021 31509024 PVT1 rs1221464062 ? N/A 225 Han Chinese CRC patients and 225 healthy controls EFO_0005842 N/A no significance for risk colorectal cancer rs1221464062-? of PVT1 and its dysfunction is not significantly associated with Colorectal cancer by using two-stage association study in 225 Han Chinese CRC patients and 225 healthy controls -0.4 Long-Chain Noncoding RNA PVT1 Gene Polymorphisms Are Associated with the Risk and Prognosis of Colorectal Cancer in the Han Chinese Population. two-stage association study PVT1 lncRNA Colorectal cancer -0.33 CACACGCCCG(G > A)GCACATTTCA chr8:127890760 0 0.99994425331294597,0.00005574668705402 - GeneName:RF02166; CADD_score:1; Consquence:downstream; GeneID:ENSG00000278324; TranscriptID:ENST00000620853; AnnoType:Intergenic; mirSVR-Score:-0.1966; mirSVR-E:-21.81 | GeneName:PVT1; CADD_score:5; Consquence:noncoding_change; GeneID:ENSG00000249859; TranscriptID:ENST00000513868; AnnoType:NonCodingTranscript; mirSVR-Score:-0.1966; mirSVR-E:-21.81 | NCRV0000004022 31509024 PVT1 rs1366023633 ? N/A 225 Han Chinese CRC patients and 225 healthy controls EFO_0005842 N/A no significance for risk colorectal cancer rs1366023633-? of PVT1 and its dysfunction is not significantly associated with Colorectal cancer by using two-stage association study in 225 Han Chinese CRC patients and 225 healthy controls -0.4 Long-Chain Noncoding RNA PVT1 Gene Polymorphisms Are Associated with the Risk and Prognosis of Colorectal Cancer in the Han Chinese Population. two-stage association study PVT1 lncRNA Colorectal cancer -0.33 ACACGCCCGG(G > A)CACATTTCAG chr8:127890761 0 0.99999203618756371,0.00000796381243628 - GeneName:RF02166; CADD_score:1; Consquence:downstream; GeneID:ENSG00000278324; TranscriptID:ENST00000620853; AnnoType:Intergenic; mirSVR-Score:-0.1077; mirSVR-E:-10.73 | GeneName:PVT1; CADD_score:5; Consquence:noncoding_change; GeneID:ENSG00000249859; TranscriptID:ENST00000513868; AnnoType:NonCodingTranscript; mirSVR-Score:-0.1077; mirSVR-E:-10.73 | NCRV0000004023 31509024 PVT1 rs1252200336 del Dominant 225 Han Chinese CRC patients and 225 healthy controls EFO_0005842 N/A increased risk and poor prognosis colorectal cancer rs1252200336-del of PVT1 and its dysfunction is significantly associated with the increasing risk and poor prognosis of Colorectal cancer by using two-stage association study in 225 Han Chinese CRC patients and 225 healthy controls 1.4 Long-Chain Noncoding RNA PVT1 Gene Polymorphisms Are Associated with the Risk and Prognosis of Colorectal Cancer in the Han Chinese Population. two-stage association study PVT1 lncRNA Colorectal cancer 0.753 TGTACCCATA(delACTGTGG)TGGACTGTGG chr8:128070320 0 0.99999203618756371,0.00000796381243628 - - NCRV0000004024 31509024 PVT1 rs1273526412 ? N/A 225 Han Chinese CRC patients and 225 healthy controls EFO_0005842 N/A no significance for risk colorectal cancer rs1273526412-? of PVT1 and its dysfunction is not significantly associated with Colorectal cancer by using two-stage association study in 225 Han Chinese CRC patients and 225 healthy controls -0.4 Long-Chain Noncoding RNA PVT1 Gene Polymorphisms Are Associated with the Risk and Prognosis of Colorectal Cancer in the Han Chinese Population. two-stage association study PVT1 lncRNA Colorectal cancer -0.33 ACCCATATGG(G > A)ACTGTGGGAG chr8:128070323 0 0.99999203618756371,0.00000796381243628 - GeneName:NA; CADD_score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000869517; AnnoType:RegulatoryFeature; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PVT1; CADD_score:2; Consquence:intronic; GeneID:ENSG00000249859; TranscriptID:ENST00000513868; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004025 32181690 PTCSC3 rs944289 T N/A 1063 EGJA patients and 1677 noncancer controls MONDO_0003219 N/A no significance for risk gastroesophageal junction adenocarcinoma rs944289-T of PTCSC3 and its dysfunction is not significantly associated with gastroesophageal junction adenocarcinoma by using two-stage association study in 1063 EGJA patients and 1677 noncancer controls -0.4 Association of Long Noncoding RNAs Polymorphisms with the Risk of Esophagogastric Junction Adenocarcinoma: A Three-Center Study of 1063 Cases and 1677 Controls. two-stage association study PTCSC3 lncRNA gastroesophageal junction adenocarcinoma 0 ATAGTCATTG(C > T)AGATTTGTAA chr14: 36180040 0.607,0.393 0.56618724515800203,0.43381275484199796 Region score:0.41; TSS score:0.36; Unmatched score:0.16; Average GERP:0.2396336633663368 GeneName:PTCSC3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000259104; TranscriptID:ENST00000556013; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004025 32181690 PTCSC3 rs944289 T N/A 1063 EGJA patients and 1677 noncancer controls MONDO_0003219 N/A decreasing risk gastroesophageal junction adenocarcinoma rs944289-T of PTCSC3 and its dysfunction is significantly associated with the decreasing risk of gastroesophageal junction adenocarcinoma by using two-stage association study in 1063 EGJA patients and 1677 noncancer controls 0.4 Association of Long Noncoding RNAs Polymorphisms with the Risk of Esophagogastric Junction Adenocarcinoma: A Three-Center Study of 1063 Cases and 1677 Controls. two-stage association study PTCSC3 lncRNA gastroesophageal junction adenocarcinoma 0 ATAGTCATTG(C > T)AGATTTGTAA chr14: 36180040 0.607,0.393 0.56618724515800203,0.43381275484199796 Region score:0.41; TSS score:0.36; Unmatched score:0.16; Average GERP:0.2396336633663368 GeneName:PTCSC3; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000259104; TranscriptID:ENST00000556013; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004026 31487296 PRNCR1 rs1456315 C recessive 144 patients with colorectal cancer and 130 matching controls EFO_0005842 N/A increasing risk colorectal cancer rs1456315-C of PRNCR1 and its dysfunction is significantly associated with the increasing risk of Colorectal cancer by using two-stage association study in 144 patients with colorectal cancer and 130 matching controls 0.4 Association between polymorphisms in PRNCR1 and risk of colorectal cancer in the Saudi population. two-stage association study PRNCR1 lncRNA Colorectal cancer 0.33 AATAAATCTA(T > A,C)ACAACTTATA chr8: 127091692 0.4968,.,0.5032 0.42850089194699286,0.00047782874617737,0.57102127930682976 Region score:0.27; TSS score:0.22; Unmatched score:0.07; Average GERP:0.33674950495049494 GeneName:AC020688.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000224722; TranscriptID:ENST00000519282; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CASC19; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000254166; TranscriptID:ENST00000642100; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PCAT1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000253438; TranscriptID:ENST00000646670; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PRNCR1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000282961; TranscriptID:ENST00000635449; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004027 31487296 PRNCR1 rs16901946 ? N/A 144 patients with colorectal cancer and 130 matching controls EFO_0005842 N/A no significance for risk colorectal cancer rs16901946-? of PRNCR1 and its dysfunction is not significantly associated with Colorectal cancer by using two-stage association study in 144 patients with colorectal cancer and 130 matching controls -0.4 Association between polymorphisms in PRNCR1 and risk of colorectal cancer in the Saudi population. two-stage association study PRNCR1 lncRNA Colorectal cancer -0.33 CCTTCTTTTC(A > G)GGATTGAATT chr8: 127088680 0.9189,0.08107 0.97291507390417940,0.02708492609582059 Region score:0.35; TSS score:0.42; Unmatched score:0.39; Average GERP:-0.8881174257425748 GeneName:AC020688.1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000224722; TranscriptID:ENST00000519282; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CASC19; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000254166; TranscriptID:ENST00000642100; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PCAT1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000253438; TranscriptID:ENST00000646670; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PRNCR1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000282961; TranscriptID:ENST00000635449; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004028 31487296 PRNCR1 rs13252298 ? N/A 144 patients with colorectal cancer and 130 matching controls EFO_0005842 N/A no significance for risk colorectal cancer rs13252298-? of PRNCR1 and its dysfunction is not significantly associated with Colorectal cancer by using two-stage association study in 144 patients with colorectal cancer and 130 matching controls -0.4 Association between polymorphisms in PRNCR1 and risk of colorectal cancer in the Saudi population. two-stage association study PRNCR1 lncRNA Colorectal cancer -0.33 CAGATACAAT(A > G)TCAGAAACTT chr8: 127082911 0.7075,0.2925 0.76690717380224260,0.23309282619775739 Region score:0.29; TSS score:0.32; Unmatched score:0.47; Average GERP:-0.5908851485148515 GeneName:AC020688.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000224722; TranscriptID:ENST00000519282; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CASC19; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000254166; TranscriptID:ENST00000523510; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PCAT1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000253438; TranscriptID:ENST00000646670; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PRNCR1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000282961; TranscriptID:ENST00000635449; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004029 31487296 PRNCR1 rs1016343 ? N/A 144 patients with colorectal cancer and 130 matching controls EFO_0005842 N/A no significance for risk colorectal cancer rs1016343-? of PRNCR1 and its dysfunction is not significantly associated with Colorectal cancer by using two-stage association study in 144 patients with colorectal cancer and 130 matching controls -0.4 Association between polymorphisms in PRNCR1 and risk of colorectal cancer in the Saudi population. two-stage association study PRNCR1 lncRNA Colorectal cancer -0.33 CATTTCCCTC(C > T)CATGATTACT chr8: 127081052 0.7939,0.2061 0.79183390672782874,0.20816609327217125 Region score:0.27; TSS score:0.43; Unmatched score:0.44; Average GERP:-2.083060891089109 GeneName:CASC19; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000254166; TranscriptID:ENST00000523510; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000230484; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000869254; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PCAT1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000253438; TranscriptID:ENST00000646670; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PRNCR1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000282961; TranscriptID:ENST00000635449; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004030 31489712 POLR2E rs3787016 ? N/A 605 patients with glioma and 1300 cancer-free individuals EFO_0005543 N/A no significance for risk glioma rs3787016-? of POLR2E and its dysfunction is not significantly associated with Glioma by using two-stage association study in 605 patients with glioma and 1300 cancer-free individuals -0.4 Impact of four lncRNA polymorphisms (rs2151280, rs7763881, rs1136410, and rs3787016) on glioma risk and prognosis: A case-control study. two-stage association study POLR2E lncRNA Glioma -0.33 ATGCACTAAT(A > G)GGAACACCTG chr19: 1090804 0.266,0.734 0.23195400101936799,0.76804599898063200 Region score:0.21; TSS score:0.14; Unmatched score:0.16; Average GERP:-1.0606237623762376 GeneName:ARHGAP45; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180448; TranscriptID:ENST00000539243; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:POLR2E; CADD-Score:2; Consquence:intron; GeneID:ENSG00000099817; TranscriptID:ENST00000615234; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004031 30587086 POLR2E rs1046040 ? N/A 178 patients with PCa and 180 benign prostatic hyperplasia EFO_0001663 N/A no significance for risk prostate carcinoma rs1046040-? of POLR2E and its dysfunction is not significantly associated with Prostate carcinoma by using two-stage association study in 178 patients with PCa and 180 benign prostatic hyperplasia -0.4 Long non-coding RNA POLR2E gene polymorphisms increased the risk of prostate cancer in a sample of the Iranian population. two-stage association study POLR2E lncRNA Prostate carcinoma -0.33 GCGGCAGTTG(G > A)GCTGAGCGAG chr19:1095515 0.7975,0.2025 0.79408766564729867,0.20591233435270132 Region score:0.56;TSS score:0.38;Unmatched score:0.86;Average GERP:1.997 GeneName:POLR2E; CADD_score:1; Consquence:upstream; GeneID:ENSG00000099817; TranscriptID:ENST00000615234; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD_score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000105619; AnnoType:RegulatoryFeature; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004032 30587086 POLR2E rs3787016 T Dominant 178 patients with PCa and 180 benign prostatic hyperplasia EFO_0001663 N/A increasing risk prostate carcinoma rs3787016-T of POLR2E and its dysfunction is significantly associated with the increasing risk of Prostate carcinoma by using two-stage association study in 178 patients with PCa and 180 benign prostatic hyperplasia 0.4 Long non-coding RNA POLR2E gene polymorphisms increased the risk of prostate cancer in a sample of the Iranian population. two-stage association study POLR2E lncRNA Prostate carcinoma 0.33 ATGCACTAAT(A > G)GGAACACCTG chr19: 1090804 0.266,0.734 0.23195400101936799,0.76804599898063200 Region score:0.21; TSS score:0.14; Unmatched score:0.16; Average GERP:-1.0606237623762376 GeneName:ARHGAP45; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180448; TranscriptID:ENST00000539243; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:POLR2E; CADD-Score:2; Consquence:intron; GeneID:ENSG00000099817; TranscriptID:ENST00000615234; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004033 31322790 lnc-CCDC83-1 rs636355 A N/A late-onset AD including 455,258 individuals of European ancestry EFO_0000249 N/A decreasing risk Alzheimer's disease rs636355-A of PICALM and its dysfunction is significantly associated with the decreasing risk of Alzheimers disease by using genome-wide association analysis in late-onset AD including 455,258 individuals of European ancestry 0.4 A functional variant in the miR-142 promoter modulating its expression and conferring risk of Alzheimer disease. genome-wide association analysis PICALM Intron Variant Alzheimers disease 0.33 GTTATTATAT(T > A,C)AACAAAGTAC chr11:86013618 0.3041,.,0.6959 0.25178389398572884,0.02616908766564729,0.72204701834862385 Region score:0.19;TSS score:0.03;Unmatched score:0.08;Average GERP:-0.165 GeneName:PICALM; CADD_score:2; Consquence:INTRONIC; GeneID:ENSG00000073921; TranscriptID:ENST00000393346; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PICALM; CADD_score:2; Consquence:INTRONIC; GeneID:ENSG00000073921; TranscriptID:ENST00000393346; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004034 31464517 PCAT1 rs1026411 A Dominant 561 cancer-free controls and 468 lung cancer cases EFO_0003060 N/A decreasing risk non-small cell lung carcinoma rs1026411-A of PCAT1 and its dysfunction is significantly associated with the decreasing risk of Non-small cell lung carcinoma by using two-stage association study in 561 cancer-free controls and 468 lung cancer cases 0.4 Polymorphisms in Long Noncoding RNA-Prostate Cancer-Associated Transcript 1 Are Associated with Lung Cancer Susceptibility in a Northeastern Chinese Population. two-stage association study PCAT1 lncRNA Non-small cell lung carcinoma 0.33 AGAATCATCG(G > A,C)TCATCCTGCA chr8:127014165 0.7464,0.2536 0.75354389653414882,0.24645610346585117 Region score:0.26;TSS score:0.34;Unmatched score:0.14;Average GERP:2.405 GeneName:PCAT1; CADD_score:2; Consquence:INTRONIC; GeneID:ENSG00000253438; TranscriptID:ENST00000561978; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PCAT1; CADD_score:2; Consquence:INTRONIC; GeneID:ENSG00000253438; TranscriptID:ENST00000561978; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004035 31464517 PCAT1 rs12543663 C N/A 561 cancer-free controls and 468 lung cancer cases EFO_0001071 N/A no significance for risk lung carcinoma rs12543663-C of PCAT1 and its dysfunction is not significantly associated with Lung carcinoma by using two-stage association study in 561 cancer-free controls and 468 lung cancer cases -0.4 Polymorphisms in Long Noncoding RNA-Prostate Cancer-Associated Transcript 1 Are Associated with Lung Cancer Susceptibility in a Northeastern Chinese Population. two-stage association study PCAT1 lncRNA Lung carcinoma -0.33 GAATAGTTAC(C > A,G,T)GGGTAGAGAA chr8:126912414 0.2021,0.7979,. 0.22804376911314984,0.76787875891946992,0.00407747196738022 Region score:0.4;TSS score:0.27;Unmatched score:0.09;Average GERP:3.22 GeneName:PCAT1; CADD_score:2; Consquence:intronic; GeneID:ENSG00000253438; TranscriptID:ENST00000519319; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004036 31464517 PCAT1 rs710886 C Dominant 561 cancer-free controls and 468 lung cancer cases EFO_0003060 N/A decreasing risk non-small cell lung carcinoma rs710886-C of PCAT1 and its dysfunction is significantly associated with the decreasing risk of Non-small cell lung carcinoma by using two-stage association study in 561 cancer-free controls and 468 lung cancer cases 0.4 Polymorphisms in Long Noncoding RNA-Prostate Cancer-Associated Transcript 1 Are Associated with Lung Cancer Susceptibility in a Northeastern Chinese Population. two-stage association study PCAT1 lncRNA Non-small cell lung carcinoma 0.33 TTGACTCCTG(C > T)GCTATAGTTT chr8: 127014615 0.6088,0.3912 0.61279147553516819,0.38720852446483180 Region score:0.31; TSS score:0.24; Unmatched score:0.08; Average GERP:-0.38626732673267333 GeneName:PCAT1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000253438; TranscriptID:ENST00000561978; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004037 31464517 PCAT1 rs16901904 C recessive 561 cancer-free controls and 468 lung cancer cases EFO_0000708 N/A increasing risk squamous cell lung carcinoma rs16901904-C of PCAT1 and its dysfunction is significantly associated with the increasing risk of Squamous cell lung carcinoma by using two-stage association study in 561 cancer-free controls and 468 lung cancer cases 0.4 Polymorphisms in Long Noncoding RNA-Prostate Cancer-Associated Transcript 1 Are Associated with Lung Cancer Susceptibility in a Northeastern Chinese Population. two-stage association study PCAT1 lncRNA Squamous cell lung carcinoma 0.33 TCATCAGGAT(T > C)TTACCATTAA chr8:127015257 0.7404,0.2596 0.73107001783893985,0.26892998216106014 Region score:0.28;TSS score:0.27;Unmatched score:0.12;Average GERP:0.045 GeneName:PCAT1; CADD_score:2; Consquence:intronic; GeneID:ENSG00000253438; TranscriptID:ENST00000561978; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004038 30457212 RMEL3 mutation ? N/A TCGA melanoma dataset EFO_0000756 N/A poor prognosis melanoma mutation-? of NONHSAT202616.1 and its dysfunction is significantly associated with the poor prognosis of Melanoma by using two-stage association study in TCGA melanoma dataset 1.4 The lncRNA RMEL3 protects immortalized cells from serum withdrawal-induced growth arrest and promotes melanoma cell proliferation and tumor growth. two-stage association study NONHSAT202616.1 lncRNA Melanoma 0.753 - - - - - - NCRV0000004039 31747682 lnc-HLA-DQA2-1:1 Rs12181270 G N/A 1500 VKH patients and 3000 unrelated healthy controls Orphanet_3437 N/A decreasing risk Vogt-Koyanagi-Harada disease Rs12181270-G of NONHSAT108927.2 and its dysfunction is significantly associated with the decreasing risk of Vogt-koyanagi-harada disease by using two-stage association study in 1500 VKH patients and 3000 unrelated healthy controls 0.4 Replication of Genome-Wide Association Analysis Identifies New Susceptibility Loci at Long Noncoding RNA Regions for Vogt-Koyanagi-Harada Disease. two-stage association study NONHSAT108927.2 lncRNA Vogt-koyanagi-harada disease 0.33 TTTTCCCTAG(G > C)AGCATTCAAT chr6:32718117 0.5757,0.4243 0.62550968399592252,0.37449031600407747 Region score:0.33;TSS score:0.2;Unmatched score:0.61;Average GERP:0.131 GeneName:AL662789.1; CADD_score:5; Consquence:noncoding_change; GeneID:ENSG00000232080; TranscriptID:ENST00000448198; AnnoType:NonCodingTranscript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004040 31747682 lnc-HLA-DQA1-5:1 Rs2071463 C N/A 1500 VKH patients and 3000 unrelated healthy controls Orphanet_3437 N/A decreasing risk Vogt-Koyanagi-Harada disease Rs2071463-C of NONHSAT108921.2 and its dysfunction is significantly associated with the decreasing risk of Vogt-koyanagi-harada disease by using two-stage association study in 1500 VKH patients and 3000 unrelated healthy controls 0.4 Replication of Genome-Wide Association Analysis Identifies New Susceptibility Loci at Long Noncoding RNA Regions for Vogt-Koyanagi-Harada Disease. two-stage association study NONHSAT108921.2 lncRNA Vogt-koyanagi-harada disease 0.33 GACGTCACAC(C > A,T)GACCTGGGCC chr6:32844751 0.8343,.,0.1657 - Region score:0.52;TSS score:0.4;Unmatched score:0.95;Average GERP:-0.665 GeneName:TAP1; CADD_score:1; Consquence:DOWNSTREAM; GeneID:ENSG00000168394; TranscriptID:ENST00000354258; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PSMB8; CADD_score:1; Consquence:UPSTREAM; GeneID:ENSG00000204264; TranscriptID:ENST00000374882; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD_score:4; Consquence:REGULATORY; GeneID:NA; TranscriptID:ENSR00000195713; AnnoType:RegulatoryFeature; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD_score:4; Consquence:REGULATORY; GeneID:NA; TranscriptID:ENSR00000787983; AnnoType:RegulatoryFeature; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PSMB9; CADD_score:2; Consquence:INTRONIC; GeneID:ENSG00000240065; TranscriptID:ENST00000395330; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PSMB8-AS1; CADD_score:2; Consquence:INTRONIC; GeneID:ENSG00000204261; TranscriptID:ENST00000453426; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TAP1; CADD_score:1; Consquence:DOWNSTREAM; GeneID:ENSG00000168394; TranscriptID:ENST00000354258; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PSMB8; CADD_score:1; Consquence:UPSTREAM; GeneID:ENSG00000204264; TranscriptID:ENST00000374882; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD_score:4; Consquence:REGULATORY; GeneID:NA; TranscriptID:ENSR00000195713; AnnoType:RegulatoryFeature; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD_score:4; Consquence:REGULATORY; GeneID:NA; TranscriptID:ENSR00000787983; AnnoType:RegulatoryFeature; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PSMB9; CADD_score:2; Consquence:INTRONIC; GeneID:ENSG00000240065; TranscriptID:ENST00000395330; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PSMB8-AS1; CADD_score:2; Consquence:INTRONIC; GeneID:ENSG00000204261; TranscriptID:ENST00000453426; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004041 31747682 lnc-MUC22-1:2 Rs2523852 G N/A 1500 VKH patients and 3000 unrelated healthy controls Orphanet_3437 N/A increasing risk Vogt-Koyanagi-Harada disease Rs2523852-G of NONHSAT108712.2 and its dysfunction is significantly associated with the increasing risk of Vogt-koyanagi-harada disease by using two-stage association study in 1500 VKH patients and 3000 unrelated healthy controls 0.4 Replication of Genome-Wide Association Analysis Identifies New Susceptibility Loci at Long Noncoding RNA Regions for Vogt-Koyanagi-Harada Disease. two-stage association study NONHSAT108712.2 lncRNA Vogt-koyanagi-harada disease 0.33 TCCCTAACTG(G > C)GAATAAATCT chr6:31056091 0.4952,0.5048 - Region score:0.31;TSS score:0.29;Unmatched score:0.53;Average GERP:2.67 GeneName:HCG22; CADD_score:5; Consquence:noncoding_change; GeneID:ENSG00000228789; TranscriptID:ENST00000426185; AnnoType:NonCodingTranscript; mirSVR-Score:-0.8032; mirSVR-E:-14.09 | NCRV0000004042 30980423 lnc-NDUFS6-5:5 rs16901995 T Dominant 1294 cases with NSCLC and 1729 healthy controls EFO_0003060 N/A decreasing risk non-small cell lung carcinoma rs16901995-T of NONHSAT100086.2 and its dysfunction is significantly associated with the decreasing risk of Non-small cell lung carcinoma by using two-stage association study in 1294 cases with NSCLC and 1729 healthy controls 0.4 SNPs in LncRNA genes are associated with non-small cell lung cancer in a Chinese population. two-stage association study NONHSAT100086.2 lncRNA Non-small cell lung carcinoma 0.33 GTGCAGAAAC(C > T)GGCCTCCCTG chr5:1933867 0.7578,0.2422 0.83631976299694189,0.16368023700305810 Region score:0.44;TSS score:0.4;Unmatched score:0.75;Average GERP:-0.396 GeneName:AC126768.2; CADD_score:5; Consquence:noncoding_change; GeneID:ENSG00000248994; TranscriptID:ENST00000511693; AnnoType:NonCodingTranscript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004043 30980423 lnc-RCHY1-3:1 rs7678341 ? N/A 1294 cases with NSCLC and 1729 healthy controls EFO_0003060 N/A no significance for risk non-small cell lung carcinoma rs7678341-? of NONHSAT096915.1 and its dysfunction is not significantly associated with Non-small cell lung carcinoma by using two-stage association study in 1294 cases with NSCLC and 1729 healthy controls -0.4 SNPs in LncRNA genes are associated with non-small cell lung cancer in a Chinese population. two-stage association study NONHSAT096915.1 lncRNA Non-small cell lung carcinoma -0.33 CCTGACCCCG(G > A,C)GTGCTTCCAA chr4:75269312 0.5266,0.4734,. 0.45598400866462793,0.54227191641182466,0.00174407492354740 - GeneName:AC025244.1; CADD_score:5; Consquence:NONCODING_CHANGE; GeneID:ENSG00000251185; TranscriptID:ENST00000505930; AnnoType:NonCodingTranscript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC025244.1; CADD_score:5; Consquence:NONCODING_CHANGE; GeneID:ENSG00000251185; TranscriptID:ENST00000505930; AnnoType:NonCodingTranscript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004044 31322790 lnc-ZNF180-2 rs12459810 T N/A late-onset AD including 455,258 individuals of European ancestry EFO_0000249 N/A increasing risk Alzheimer's disease rs12459810-T of NONHSAT066717.2 and its dysfunction is significantly associated with the increasing risk of Alzheimers disease by using genome-wide association analysis in late-onset AD including 455,258 individuals of European ancestry 0.4 A functional variant in the miR-142 promoter modulating its expression and conferring risk of Alzheimer disease. genome-wide association analysis NONHSAT066717.2 lncRNA Alzheimers disease 0.33 TCCAAACCTC(C > T)GCCTCCACCC chr19:44746404 0.863,0.137 0.80579446992864424,0.19420553007135575 Region score:0.37;TSS score:0.52;Unmatched score:0.63;Average GERP:1.1625 GeneName:BCL3; CADD_score:1; Consquence:upstream; GeneID:ENSG00000069399; TranscriptID:ENST00000164227; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004045 31322790 lnc-ABI3-2:5 rs850520 G N/A late-onset AD including 455,258 individuals of European ancestry EFO_0000249 N/A increasing risk Alzheimer's disease rs850520-G of NONHSAT054515.1 and its dysfunction is significantly associated with the increasing risk of Alzheimers disease by using genome-wide association analysis in late-onset AD including 455,258 individuals of European ancestry 0.4 A functional variant in the miR-142 promoter modulating its expression and conferring risk of Alzheimer disease. genome-wide association analysis NONHSAT054515.1 lncRNA Alzheimers disease 0.33 TAGCCAGGCA(A > G,T)TGGTGGCACG chr17:49255705 0.3421,0.6579 0.38430969673802242,0.61569030326197757 Region score:0.15;TSS score:0.13;Unmatched score:0.22;Average GERP:-0.3595 GeneName:FLJ40194; CADD_score:5; Consquence:NONCODING_CHANGE; GeneID:ENSG00000177369; TranscriptID:ENST00000322227; AnnoType:NonCodingTranscript; mirSVR-Score:-0.1880; mirSVR-E:-25.10 | GeneName:FLJ40194; CADD_score:5; Consquence:NONCODING_CHANGE; GeneID:ENSG00000177369; TranscriptID:ENST00000322227; AnnoType:NonCodingTranscript; mirSVR-Score:-0.1880; mirSVR-E:-25.10 | NCRV0000004046 30628890 NR_033883 (LOC339529) focalCNVs focal CNVs Dominant 29,085 patients diagnosed with a spectrum of neurodevelopmental disorders and craniofacial congenital malformations, and 19,584 controls EFO_0010642 N/A Associate Neurodevelopmental disorder focal CNVs-focal CNVs of NONHSAT010628.2 and its dysfunction is significantly associated with Neurodevelopmental disorder by using two-stage association study in 29,085 patients diagnosed with a spectrum of neurodevelopmental disorders and craniofacial congenital malformations, and 19,584 controls 0.4 The novel lncRNA lnc-NR2F1 is pro-neurogenic and mutated in human neurodevelopmental disorders. two-stage association study NONHSAT010628.2 lncRNA Neurodevelopmental disorder 0.33 - - - - - - NCRV0000004047 31747682 lnc-TOR3A-1:1 rs3829794 T N/A 1500 VKH patients and 3000 unrelated healthy controls Orphanet_3437 N/A increasing risk Vogt-Koyanagi-Harada disease rs3829794-T of NONHSAT007846.1 and its dysfunction is significantly associated with the increasing risk of Vogt-koyanagi-harada disease by using two-stage association study in 1500 VKH patients and 3000 unrelated healthy controls 1.4 Replication of Genome-Wide Association Analysis Identifies New Susceptibility Loci at Long Noncoding RNA Regions for Vogt-Koyanagi-Harada Disease. two-stage association study NONHSAT007846.1 lncRNA Vogt-koyanagi-harada disease 0.753 ATGACCCCAT(T > A,C)TGAATTTTTT chr1:179103593 0.492,.,0.508 0.50226968654434250,0.00006371049949031,0.49766660295616717 Region score:0.42;TSS score:0.6;Unmatched score:0.72;Average GERP:-1.08 GeneName:ABL2; CADD_score:2; Consquence:3PRIME_UTR; GeneID:ENSG00000143322; TranscriptID:ENST00000502732; AnnoType:Transcript; mirSVR-Score:-0.0026; mirSVR-E:-14.45 | GeneName:ABL2; CADD_score:2; Consquence:3PRIME_UTR; GeneID:ENSG00000143322; TranscriptID:ENST00000502732; AnnoType:Transcript; mirSVR-Score:-0.0026; mirSVR-E:-14.45 | NCRV0000004048 31322790 lnc-NKPD1-1 rs1114831 A N/A late-onset AD including 455,258 individuals of European ancestry EFO_0000249 N/A increasing risk Alzheimer's disease rs1114831-A of NONHSAG026024.2 and its dysfunction is significantly associated with the increasing risk of Alzheimers disease by using genome-wide association analysis in late-onset AD including 455,258 individuals of European ancestry 0.4 A functional variant in the miR-142 promoter modulating its expression and conferring risk of Alzheimer disease. genome-wide association analysis NONHSAG026024.2 lncRNA Alzheimers disease 0.33 AGGCAGTCTC(C > A,T)GCCCCAGAAC chr19:45133061 0.9119,0.08806 0.91797273190621814,0.08202726809378185 Region score:0.35;TSS score:0.09;Unmatched score:0.08;Average GERP:-0.278 GeneName:AC005757.1; CADD_score:1; Consquence:DOWNSTREAM; GeneID:ENSG00000267044; TranscriptID:ENST00000591432; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:EIF5AP3; CADD_score:1; Consquence:DOWNSTREAM; GeneID:ENSG00000267346; TranscriptID:ENST00000589460; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MARK4; CADD_score:2; Consquence:INTRONIC; GeneID:ENSG00000007047; TranscriptID:ENST00000587566; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PPP1R37; CADD_score:2; Consquence:INTRONIC; GeneID:ENSG00000104866; TranscriptID:ENST00000221462; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC005757.1; CADD_score:1; Consquence:DOWNSTREAM; GeneID:ENSG00000267044; TranscriptID:ENST00000591432; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:EIF5AP3; CADD_score:1; Consquence:DOWNSTREAM; GeneID:ENSG00000267346; TranscriptID:ENST00000589460; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MARK4; CADD_score:2; Consquence:INTRONIC; GeneID:ENSG00000007047; TranscriptID:ENST00000587566; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PPP1R37; CADD_score:2; Consquence:INTRONIC; GeneID:ENSG00000104866; TranscriptID:ENST00000221462; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004049 31322790 lnc-ZNF296-1 rs3760628 A N/A late-onset AD including 455,258 individuals of European ancestry EFO_0000249 N/A increasing risk Alzheimer's disease rs3760628-A of NONHSAG026013.2 and its dysfunction is significantly associated with the increasing risk of Alzheimers disease by using genome-wide association analysis in late-onset AD including 455,258 individuals of European ancestry 0.4 A functional variant in the miR-142 promoter modulating its expression and conferring risk of Alzheimer disease. genome-wide association analysis NONHSAG026013.2 lncRNA Alzheimers disease 0.33 GAGGCCCAGG(G > A)GCCTGATGTT chr19:44953968 0.4313,0.5687 0.47629173037716615,0.52370826962283384 Region score:0.2;TSS score:0.3;Unmatched score:0.59;Average GERP:1.099 GeneName:APOC4-APOC2; CADD_score:1; Consquence:downstream; GeneID:ENSG00000224916; TranscriptID:ENST00000585685; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:APOC2; CADD_score:1; Consquence:downstream; GeneID:ENSG00000234906; TranscriptID:ENST00000590360; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CLPTM1; CADD_score:1; Consquence:upstream; GeneID:ENSG00000104853; TranscriptID:ENST00000337392; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC011481.1; CADD_score:5; Consquence:noncoding_change; GeneID:ENSG00000267114; TranscriptID:ENST00000591646; AnnoType:NonCodingTranscript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD_score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000110126; AnnoType:RegulatoryFeature; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004050 31322790 lnc-MS4A4A-1 rs10792264 C N/A late-onset AD including 455,258 individuals of European ancestry EFO_0000249 N/A increasing risk Alzheimer's disease rs10792264-C of NONHSAG008426.2 and its dysfunction is significantly associated with the increasing risk of Alzheimers disease by using genome-wide association analysis in late-onset AD including 455,258 individuals of European ancestry 0.4 A functional variant in the miR-142 promoter modulating its expression and conferring risk of Alzheimer disease. genome-wide association analysis NONHSAG008426.2 lncRNA Alzheimers disease 0.33 AAACTTCCAA(A > C,G,T)TGCAGAGCTT chr11: 60318017 0.6833,.,.,0.3167 0.66751083078491335,0.00003185524974515,.,0.33245731396534148 Region score:0.3;TSS score:0.04;Unmatched score:0.01;Average GERP:-0.3955 GeneName:MS4A4A; CADD_score:1; Consquence:downstream; GeneID:ENSG00000110079; TranscriptID:ENST00000649552; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004051 31704150 NEAT1 rs512715 ? N/A 462 lung cancer cases and 559 controls EFO_0001071 N/A no significance for risk lung carcinoma rs512715-? of NEAT1 and its dysfunction is not significantly associated with Lung carcinoma by using two-stage association study in 462 lung cancer cases and 559 controls -0.4 LncRNA NEAT1 polymorphisms and lung cancer susceptibility in a Chinese Northeast Han Population: A case-control study. two-stage association study NEAT1 lncRNA Lung carcinoma -0.33 AAAACATTAC(C > G)CTGGTCATCT chr11: 65423737 0.4203,0.5797 0.36404179408766564,0.63595820591233435 Region score:0.55;TSS score:0.43;Unmatched score:0.78;Average GERP:4.04 GeneName:RF01955; CADD_score:1; Consquence:downstream; GeneID:ENSG00000278144; TranscriptID:ENST00000620348; AnnoType:Intergenic; mirSVR-Score:-0; mirSVR-E:-9.60 | GeneName:RF01957; CADD_score:1; Consquence:upstream; GeneID:ENSG00000277599; TranscriptID:ENST00000613347; AnnoType:Intergenic; mirSVR-Score:-0; mirSVR-E:-9.60 | GeneName:NEAT1; CADD_score:5; Consquence:noncoding_change; GeneID:ENSG00000245532; TranscriptID:ENST00000501122; AnnoType:NonCodingTranscript; mirSVR-Score:-0; mirSVR-E:-9.60 | GeneName:RF01956; CADD_score:5; Consquence:noncoding_change; GeneID:ENSG00000278050; TranscriptID:ENST00000620525; AnnoType:NonCodingTranscript; mirSVR-Score:-0; mirSVR-E:-9.60 | GeneName:NA; CADD_score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000264457; AnnoType:RegulatoryFeature; mirSVR-Score:-0; mirSVR-E:-9.60 | NCRV0000004052 31704150 NEAT1 rs2239895 G Dominant 462 lung cancer cases and 559 controls EFO_0001071 N/A increasing risk lung carcinoma rs2239895-G of NEAT1 and its dysfunction is significantly associated with the increasing risk of Lung carcinoma by using two-stage association study in 462 lung cancer cases and 559 controls 0.4 LncRNA NEAT1 polymorphisms and lung cancer susceptibility in a Chinese Northeast Han Population: A case-control study. two-stage association study NEAT1 lncRNA Lung carcinoma 0.33 CCTCATGGCG(G > C)AGCAGATGGA chr11:65423976 0.9333,0.06669 0.95450273955147808,0.04549726044852191 Region score:0.52;TSS score:0.45;Unmatched score:0.77;Average GERP:2.63 GeneName:RF01956; CADD_score:1; Consquence:downstream; GeneID:ENSG00000278050; TranscriptID:ENST00000620525; AnnoType:Intergenic; mirSVR-Score:-0; mirSVR-E:-12.23 | GeneName:RF01955; CADD_score:1; Consquence:downstream; GeneID:ENSG00000278144; TranscriptID:ENST00000620348; AnnoType:Intergenic; mirSVR-Score:-0; mirSVR-E:-12.23 | GeneName:NEAT1; CADD_score:5; Consquence:noncoding_change; GeneID:ENSG00000245532; TranscriptID:ENST00000501122; AnnoType:NonCodingTranscript; mirSVR-Score:-0; mirSVR-E:-12.23 | GeneName:RF01957; CADD_score:5; Consquence:noncoding_change; GeneID:ENSG00000277599; TranscriptID:ENST00000613347; AnnoType:NonCodingTranscript; mirSVR-Score:-0; mirSVR-E:-12.23 | GeneName:NA; CADD_score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000264457; AnnoType:RegulatoryFeature; mirSVR-Score:-0; mirSVR-E:-12.23 | NCRV0000004053 21892160 miR-17-92_cluster Deletion del Dominant skeletal and growth defects Orphanet_404584 N/A increasing risk Rare genetic bone development disorder Deletion-del of miR-17-92_cluster and its dysfunction is significantly associated with the increasing risk of Rare genetic bone development disorder by using analysis of sequence variation in skeletal and growth defects 2 Germline deletion of the miR-17閳?2 cluster causes skeletal and growth defects in humans. analysis of sequence variation miR-17-92_cluster miRNA Rare genetic bone development disorder 0.865 - - - - - - NCRV0000004054 31703587 miR-17-92 rs1491034 ? N/A Three hundred and ninety-eight patients with IS and 397 control subjects HP_0002140 N/A no significance for risk Ischemic stroke rs1491034-? of miR-17-92 and its dysfunction is not significantly associated with Ischemic stroke by using two-stage association study in Three hundred and ninety-eight patients with IS and 397 control subjects -0.4 A functional polymorphism in the promoter of miR-17-92 cluster is associated with decreased risk of ischemic stroke. two-stage association study miR-17-92 miRNA Ischemic stroke -0.33 AATTGTTTTA(A > G)TAATTGGGGG chr13:90049366 0.7813,0.2187 0.82306001529051987,0.17693998470948012 Region score:0.2;TSS score:0.09;Unmatched score:0.02;Average GERP:1.5665 GeneName:NA; CADD_score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004055 31703587 miR-17-92 rs9301654 G N/A Three hundred and ninety-eight patients with IS and 397 control subjects HP_0002140 N/A decreasing risk Ischemic stroke rs9301654-G of miR-17-92 and its dysfunction is significantly associated with the decreasing risk of Ischemic stroke by using two-stage association study in Three hundred and ninety-eight patients with IS and 397 control subjects 0.4 A functional polymorphism in the promoter of miR-17-92 cluster is associated with decreased risk of ischemic stroke. two-stage association study miR-17-92 miRNA Ischemic stroke 0.33 ATATTAATAA(A > G)ACATGCATAG chr13:90142152 0.8093,0.1907 0.80370795107033639,0.19629204892966360 Region score:0.35;TSS score:0.27;Unmatched score:0.06;Average GERP:0.4075 GeneName:NA; CADD_score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004056 31703587 miR-17-92 rs982873 ? N/A Three hundred and ninety-eight patients with IS and 397 control subjects HP_0002140 N/A no significance for risk Ischemic stroke rs982873-? of miR-17-92 and its dysfunction is not significantly associated with Ischemic stroke by using two-stage association study in Three hundred and ninety-eight patients with IS and 397 control subjects -0.4 A functional polymorphism in the promoter of miR-17-92 cluster is associated with decreased risk of ischemic stroke. two-stage association study miR-17-92 miRNA Ischemic stroke -0.33 TTGAATTTCT(T > C)GCCTGGAGAC chr13:90145678 0.3848,0.6152 0.35171381243628950,0.64828618756371049 Region score:0.21;TSS score:0.27;Unmatched score:0.24;Average GERP:0.639 GeneName:NA; CADD_score:0; Consquence:intergenic; GeneID:NA; TranscriptID:NA; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004057 21472816 miR-15a-miR-16-1 locus Deletion del recessive 42 highly informative prostate cancer cell lines and xenografts EFO_0001663 N/A increasing risk prostate carcinoma Deletion-del of miR-15a-miR-16-1 locus and its dysfunction is significantly associated with the increasing risk of Prostate carcinoma by using analysis of sequence variation in 42 highly informative prostate cancer cell lines and xenografts 0.9 The miR-15a-miR-16-1 locus is homozygously deleted in a subset of prostate cancers. analysis of sequence variation miR-15a-miR-16-1 locus miRNA Prostate carcinoma 0.593 - - - - - - NCRV0000004058 30947387 MEG3 rs4378559 ? N/A 444 patients with OSCC and 984 cancer-free controls EFO_0000199 N/A no significance for risk oral squamous cell carcinoma rs4378559-? of MEG3 and its dysfunction is not significantly associated with Oral squamous cell carcinoma by using two-stage association study in 444 patients with OSCC and 984 cancer-free controls -0.4 Association of long non-coding RNA MEG3 polymorphisms with oral squamous cell carcinoma risk. two-stage association study MEG3 lncRNA Oral squamous cell carcinoma -0.33 TCCCTTGCTC(C > G,T)CCCACTCAGT chr14:100835958 0.7871,0.2129 0.77659116972477064,0.22340883027522935 Region score:0.16;TSS score:0.09;Unmatched score:0.56;Average GERP:1.95 GeneName:AL117190.1; CADD_score:1; Consquence:UPSTREAM; GeneID:ENSG00000258399; TranscriptID:ENST00000637474; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MEG3; CADD_score:5; Consquence:NONCODING_CHANGE; GeneID:ENSG00000214548; TranscriptID:ENST00000524035; AnnoType:NonCodingTranscript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AL117190.2; CADD_score:2; Consquence:INTRONIC; GeneID:ENSG00000258663; TranscriptID:ENST00000554041; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AL117190.1; CADD_score:1; Consquence:UPSTREAM; GeneID:ENSG00000258399; TranscriptID:ENST00000637474; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MEG3; CADD_score:5; Consquence:NONCODING_CHANGE; GeneID:ENSG00000214548; TranscriptID:ENST00000524035; AnnoType:NonCodingTranscript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AL117190.2; CADD_score:2; Consquence:INTRONIC; GeneID:ENSG00000258663; TranscriptID:ENST00000554041; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004059 30947387 MEG3 rs3783355 ? N/A 444 patients with OSCC and 984 cancer-free controls EFO_0000199 N/A no significance for risk oral squamous cell carcinoma rs3783355-? of MEG3 and its dysfunction is not significantly associated with Oral squamous cell carcinoma by using two-stage association study in 444 patients with OSCC and 984 cancer-free controls -0.4 Association of long non-coding RNA MEG3 polymorphisms with oral squamous cell carcinoma risk. two-stage association study MEG3 lncRNA Oral squamous cell carcinoma -0.33 TGTAACGACG(G > A)GGCTCTATTT chr14:100842621 0.8105,0.1895 0.77307116462793068,0.22692883537206931 Region score:0.37;TSS score:0.33;Unmatched score:0.17;Average GERP:1.06 GeneName:NA; CADD_score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000507743; AnnoType:RegulatoryFeature; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MEG3; CADD_score:2; Consquence:intronic; GeneID:ENSG00000214548; TranscriptID:ENST00000524035; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AL117190.1; CADD_score:2; Consquence:intronic; GeneID:ENSG00000258399; TranscriptID:ENST00000637474; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AL117190.2; CADD_score:2; Consquence:intronic; GeneID:ENSG00000258663; TranscriptID:ENST00000554041; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004060 30947387 MEG3 rs11160608 C Dominant 444 patients with OSCC and 984 cancer-free controls EFO_0000199 N/A increasing risk oral squamous cell carcinoma rs11160608-C of MEG3 and its dysfunction is significantly associated with the increasing risk of Oral squamous cell carcinoma by using two-stage association study in 444 patients with OSCC and 984 cancer-free controls 0.9 Association of long non-coding RNA MEG3 polymorphisms with oral squamous cell carcinoma risk. two-stage association study MEG3 lncRNA Oral squamous cell carcinoma 0.593 TAGAAAAAAA(A > C,T)CCAGTGAATC chr14:100846756 0.5567,0.4433,. 0.49396343017329255,0.50600471457696228,0.00003185524974515 Region score:0.52;TSS score:0.3;Unmatched score:0.51;Average GERP:-0.2805 GeneName:MEG3; CADD_score:2; Consquence:INTRONIC; GeneID:ENSG00000214548; TranscriptID:ENST00000524035; AnnoType:Transcript; mirSVR-Score:-0.7122; mirSVR-E:-9.81 | GeneName:AL117190.1; CADD_score:2; Consquence:INTRONIC; GeneID:ENSG00000258399; TranscriptID:ENST00000637474; AnnoType:Transcript; mirSVR-Score:-0.7122; mirSVR-E:-9.81 | GeneName:AL117190.2; CADD_score:2; Consquence:INTRONIC; GeneID:ENSG00000258663; TranscriptID:ENST00000554041; AnnoType:Transcript; mirSVR-Score:-0.7122; mirSVR-E:-9.81 | GeneName:MEG3; CADD_score:2; Consquence:INTRONIC; GeneID:ENSG00000214548; TranscriptID:ENST00000524035; AnnoType:Transcript; mirSVR-Score:-0.7122; mirSVR-E:-9.81 | GeneName:AL117190.1; CADD_score:2; Consquence:INTRONIC; GeneID:ENSG00000258399; TranscriptID:ENST00000637474; AnnoType:Transcript; mirSVR-Score:-0.7122; mirSVR-E:-9.81 | GeneName:AL117190.2; CADD_score:2; Consquence:INTRONIC; GeneID:ENSG00000258663; TranscriptID:ENST00000554041; AnnoType:Transcript; mirSVR-Score:-0.7122; mirSVR-E:-9.81 | NCRV0000004061 30947387 MEG3 rs4906024 ? N/A 444 patients with OSCC and 984 cancer-free controls EFO_0000199 N/A no significance for risk oral squamous cell carcinoma rs4906024-? of MEG3 and its dysfunction is not significantly associated with Oral squamous cell carcinoma by using two-stage association study in 444 patients with OSCC and 984 cancer-free controls -0.4 Association of long non-coding RNA MEG3 polymorphisms with oral squamous cell carcinoma risk. two-stage association study MEG3 lncRNA Oral squamous cell carcinoma -0.33 CCCTGAGCAC(C > G,T)GTCCCAGCTG chr14:100855389 0.7658,.,0.2342 0.86048196992864424,0.00000796381243628,0.13951006625891946 Region score:0.27;TSS score:0.18;Unmatched score:0.19;Average GERP:1.1805 GeneName:MIR770; CADD_score:1; Consquence:DOWNSTREAM; GeneID:ENSG00000211574; TranscriptID:ENST00000390219; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD_score:4; Consquence:REGULATORY; GeneID:NA; TranscriptID:ENSR00000276116; AnnoType:RegulatoryFeature; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MEG3; CADD_score:2; Consquence:INTRONIC; GeneID:ENSG00000214548; TranscriptID:ENST00000524035; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AL117190.1; CADD_score:2; Consquence:INTRONIC; GeneID:ENSG00000258399; TranscriptID:ENST00000637474; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AL117190.2; CADD_score:2; Consquence:INTRONIC; GeneID:ENSG00000258663; TranscriptID:ENST00000554041; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR770; CADD_score:1; Consquence:DOWNSTREAM; GeneID:ENSG00000211574; TranscriptID:ENST00000390219; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD_score:4; Consquence:REGULATORY; GeneID:NA; TranscriptID:ENSR00000276116; AnnoType:RegulatoryFeature; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MEG3; CADD_score:2; Consquence:INTRONIC; GeneID:ENSG00000214548; TranscriptID:ENST00000524035; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AL117190.1; CADD_score:2; Consquence:INTRONIC; GeneID:ENSG00000258399; TranscriptID:ENST00000637474; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AL117190.2; CADD_score:2; Consquence:INTRONIC; GeneID:ENSG00000258663; TranscriptID:ENST00000554041; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004062 30947387 MEG3 rs4081134 ? N/A 444 patients with OSCC and 984 cancer-free controls EFO_0000199 N/A no significance for risk oral squamous cell carcinoma rs4081134-? of MEG3 and its dysfunction is not significantly associated with Oral squamous cell carcinoma by using two-stage association study in 444 patients with OSCC and 984 cancer-free controls -0.4 Association of long non-coding RNA MEG3 polymorphisms with oral squamous cell carcinoma risk. two-stage association study MEG3 lncRNA Oral squamous cell carcinoma -0.33 TGCTTTCCAT(G > A)TGTCACACAC chr14: 100855451 0.731,0.269 0.71148700305810397,0.28851299694189602 Region score:0.22; TSS score:0.18; Unmatched score:0.25; Average GERP:-0.597950495049505 GeneName:AL117190.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000258399; TranscriptID:ENST00000637474; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AL117190.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000258663; TranscriptID:ENST00000554041; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MEG3; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000214548; TranscriptID:ENST00000524035; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR770; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000211574; TranscriptID:ENST00000390219; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000276116; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004063 30947387 MEG3 rs2281511 ? N/A 444 patients with OSCC and 984 cancer-free controls EFO_0000199 N/A no significance for risk oral squamous cell carcinoma rs2281511-? of MEG3 and its dysfunction is not significantly associated with Oral squamous cell carcinoma by using two-stage association study in 444 patients with OSCC and 984 cancer-free controls -0.4 Association of long non-coding RNA MEG3 polymorphisms with oral squamous cell carcinoma risk. two-stage association study MEG3 lncRNA Oral squamous cell carcinoma -0.33 CTCCCCAGCG(G > A)GGTTGTAGCT chr14:100857696 0.7937,0.2063 0.77141469164118246,0.22858530835881753 Region score:0.29;TSS score:0.14;Unmatched score:0.55;Average GERP:2.07 GeneName:MEG3; CADD_score:2; Consquence:intronic; GeneID:ENSG00000214548; TranscriptID:ENST00000524035; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AL117190.1; CADD_score:2; Consquence:intronic; GeneID:ENSG00000258399; TranscriptID:ENST00000637474; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AL117190.2; CADD_score:2; Consquence:intronic; GeneID:ENSG00000258663; TranscriptID:ENST00000554041; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004064 30947387 MEG3 rs12431658 ? N/A 444 patients with OSCC and 984 cancer-free controls EFO_0000199 N/A no significance for risk oral squamous cell carcinoma rs12431658-? of MEG3 and its dysfunction is not significantly associated with Oral squamous cell carcinoma by using two-stage association study in 444 patients with OSCC and 984 cancer-free controls -0.4 Association of long non-coding RNA MEG3 polymorphisms with oral squamous cell carcinoma risk. two-stage association study MEG3 lncRNA Oral squamous cell carcinoma -0.33 GCCTGAGCTT(T > C)TACCGTGAGG chr14:100858638 0.9569,0.04313 0.97273190621814475,0.02726809378185524 Region score:0.23;TSS score:0.2;Unmatched score:0.4;Average GERP:0.4905 GeneName:NA; CADD_score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000507747; AnnoType:RegulatoryFeature; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MEG3; CADD_score:2; Consquence:intronic; GeneID:ENSG00000214548; TranscriptID:ENST00000524035; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AL117190.1; CADD_score:2; Consquence:intronic; GeneID:ENSG00000258399; TranscriptID:ENST00000637474; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AL117190.2; CADD_score:2; Consquence:intronic; GeneID:ENSG00000258663; TranscriptID:ENST00000554041; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004065 30305120 MALAT1 rs3200401 ? N/A 567 IS patients and 552 control subjects HP_0002140 N/A no significance for risk Ischemic stroke rs3200401-? of MALAT1 and its dysfunction is not significantly associated with Ischemic stroke by using two-stage association study in 567 IS patients and 552 control subjects -0.4 Long non-coding RNA H19 and MALAT1 gene variants in patients with ischemic stroke in a northern Chinese Han population. two-stage association study MALAT1 lncRNA Ischemic stroke -0.33 GACTTCAGGT(C > T)TGTCTGTTCT chr11: 65504361 0.8568,0.1432 0.81981874362895005,0.18018125637104994 Region score:0.57; TSS score:0.67; Unmatched score:0.79; Average GERP:3.4488239999999992 GeneName:MALAT1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000251562; TranscriptID:ENST00000534336; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0079; mirSVR-E:-14.62 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000432700; AnnoType:REGULATORY; mirSVR-Score:-0.0079; mirSVR-E:-14.62 | GeneName:RF01684; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000274072; TranscriptID:ENST00000611300; AnnoType:UPSTREAM; mirSVR-Score:-0.0079; mirSVR-E:-14.62 | GeneName:RF01871; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000278217; TranscriptID:ENST00000618249; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0079; mirSVR-E:-14.62 | NCRV0000004066 30305120 MALAT1 rs619586 ? N/A 567 IS patients and 552 control subjects HP_0002140 N/A no significance for risk Ischemic stroke rs619586-? of MALAT1 and its dysfunction is not significantly associated with Ischemic stroke by using two-stage association study in 567 IS patients and 552 control subjects -0.4 Long non-coding RNA H19 and MALAT1 gene variants in patients with ischemic stroke in a northern Chinese Han population. two-stage association study MALAT1 lncRNA Ischemic stroke -0.33 AACTATACCT(A > G)CTGTCCCTCA chr11: 65498698 0.9339,0.06609 0.96578746177370030,0.03421253822629969 Region score:0.55; TSS score:0.57; Unmatched score:0.77; Average GERP:-1.3899496039603956 GeneName:AP000769.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000270117; TranscriptID:ENST00000602344; AnnoType:UPSTREAM; mirSVR-Score:-0.0175; mirSVR-E:-22.38 | GeneName:MALAT1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000251562; TranscriptID:ENST00000534336; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0175; mirSVR-E:-22.38 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000432700; AnnoType:REGULATORY; mirSVR-Score:-0.0175; mirSVR-E:-22.38 | GeneName:RF01871; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000278217; TranscriptID:ENST00000618249; AnnoType:UPSTREAM; mirSVR-Score:-0.0175; mirSVR-E:-22.38 | NCRV0000004067 31045514 MALAT1 rs3200401 ? N/A 98 patients receiving different regimens of irinotecan-based therapy EFO_0005842 N/A Poor prognosis colorectal cancer rs3200401-? of MALAT1 and its dysfunction is significantly associated with the poor prognosis of Colorectal cancer by using two-stage association study in 98 patients receiving different regimens of irinotecan-based therapy 0.4 Long non-coding RNA polymorphisms and prediction of response to chemotherapy based on irinotecan in patients with metastatic colorectal cancer. two-stage association study MALAT1 lncRNA Colorectal cancer 0.33 GACTTCAGGT(C > T)TGTCTGTTCT chr11: 65504361 0.8568,0.1432 0.81981874362895005,0.18018125637104994 Region score:0.57; TSS score:0.67; Unmatched score:0.79; Average GERP:3.4488239999999992 GeneName:MALAT1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000251562; TranscriptID:ENST00000534336; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0079; mirSVR-E:-14.62 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000432700; AnnoType:REGULATORY; mirSVR-Score:-0.0079; mirSVR-E:-14.62 | GeneName:RF01684; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000274072; TranscriptID:ENST00000611300; AnnoType:UPSTREAM; mirSVR-Score:-0.0079; mirSVR-E:-14.62 | GeneName:RF01871; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000278217; TranscriptID:ENST00000618249; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0079; mirSVR-E:-14.62 | NCRV0000004068 31311811 MALAT1 rs664589 G Dominant 1,078 patients with colorectal cancer and 1,175 healthy controls EFO_0005842 N/A increased risk and poor prognosis colorectal cancer rs664589-G of MALAT1 and its dysfunction is significantly associated with the increasing risk and poor prognosis of Colorectal cancer by using two-stage association study in 1,078 patients with colorectal cancer and 1,175 healthy controls 1.4 MALAT1 rs664589 Polymorphism Inhibits Binding to miR-194-5p, Contributing to Colorectal Cancer Risk, Growth, and Metastasis. two-stage association study MALAT1 lncRNA Colorectal cancer 0.753 GGCAGTGGCC(C > G)TGTTACGGTT chr11:65501878 0.9305,0.06949 0.96138347349643221,0.03861652650356778 Region score:0.56;TSS score:0.44;Unmatched score:0.79;Average GERP:2.3905 GeneName:AP000769.2; CADD_score:1; Consquence:upstream; GeneID:ENSG00000270117; TranscriptID:ENST00000602344; AnnoType:Intergenic; mirSVR-Score:-0.0036; mirSVR-E:-20.48 | GeneName:RF01684; CADD_score:1; Consquence:upstream; GeneID:ENSG00000274072; TranscriptID:ENST00000611300; AnnoType:Intergenic; mirSVR-Score:-0.0036; mirSVR-E:-20.48 | GeneName:RF01871; CADD_score:1; Consquence:upstream; GeneID:ENSG00000278217; TranscriptID:ENST00000618249; AnnoType:Intergenic; mirSVR-Score:-0.0036; mirSVR-E:-20.48 | GeneName:MALAT1; CADD_score:5; Consquence:noncoding_change; GeneID:ENSG00000251562; TranscriptID:ENST00000534336; AnnoType:NonCodingTranscript; mirSVR-Score:-0.0036; mirSVR-E:-20.48 | GeneName:NA; CADD_score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000432700; AnnoType:RegulatoryFeature; mirSVR-Score:-0.0036; mirSVR-E:-20.48 | NCRV0000004069 30833365 MALAT1 rs619586 ? N/A Three hundred and sixty-five CAD patients and three hundred and eighty-four matched control participants blood samples EFO_0001645 N/A no significance for risk coronary artery disease rs619586-? of MALAT1 and its dysfunction is not significantly associated with Coronary heart disease by using two-stage association study in Three hundred and sixty-five CAD patients and three hundred and eighty-four matched control participants blood samples -0.4 LncRNA MALAT1 gene polymorphisms in coronary artery disease: a case-control study in a Chinese population. two-stage association study MALAT1 lncRNA Coronary heart disease -0.33 AACTATACCT(A > G)CTGTCCCTCA chr11: 65498698 0.9339,0.06609 0.96578746177370030,0.03421253822629969 Region score:0.55; TSS score:0.57; Unmatched score:0.77; Average GERP:-1.3899496039603956 GeneName:AP000769.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000270117; TranscriptID:ENST00000602344; AnnoType:UPSTREAM; mirSVR-Score:-0.0175; mirSVR-E:-22.38 | GeneName:MALAT1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000251562; TranscriptID:ENST00000534336; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0175; mirSVR-E:-22.38 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000432700; AnnoType:REGULATORY; mirSVR-Score:-0.0175; mirSVR-E:-22.38 | GeneName:RF01871; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000278217; TranscriptID:ENST00000618249; AnnoType:UPSTREAM; mirSVR-Score:-0.0175; mirSVR-E:-22.38 | NCRV0000004070 30833365 MALAT1 rs4102217 C N/A Three hundred and sixty-five CAD patients and three hundred and eighty-four matched control participants blood samples EFO_0001645 N/A increasing risk coronary artery disease rs4102217-C of MALAT1 and its dysfunction , in some specific group, is significantly associated with the increasing risk of Coronary heart disease by using two-stage association study in Three hundred and sixty-five CAD patients and three hundred and eighty-four matched control participants blood samples 0.4 LncRNA MALAT1 gene polymorphisms in coronary artery disease: a case-control study in a Chinese population. two-stage association study MALAT1 lncRNA Coronary heart disease 0.33 AGAAGTGCTG(G > C)AGAGGAAGGG chr11: 65496424 0.8718,0.1282 0.83986365953109072,0.16013634046890927 Region score:0.41; TSS score:0.52; Unmatched score:0.67; Average GERP:-1.0584665346534654 GeneName:AP000769.2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000270117; TranscriptID:ENST00000602344; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MALAT1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000251562; TranscriptID:ENST00000534336; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000432700; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004071 30898706 MALAT1 rs619586 ? N/A 401 Han Chinese MI patients and 409 controls EFO_0000612 N/A no significance for risk myocardial infarction rs619586-? of MALAT1 and its dysfunction is not significantly associated with Myocardial infarction by using two-stage association study in 401 Han Chinese MI patients and 409 controls -0.4 Association of lncRNA polymorphisms with triglyceride and total cholesterol levels among myocardial infarction patients in Chinese population. two-stage association study MALAT1 lncRNA Myocardial infarction -0.33 AACTATACCT(A > G)CTGTCCCTCA chr11: 65498698 0.9339,0.06609 0.96578746177370030,0.03421253822629969 Region score:0.55; TSS score:0.57; Unmatched score:0.77; Average GERP:-1.3899496039603956 GeneName:AP000769.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000270117; TranscriptID:ENST00000602344; AnnoType:UPSTREAM; mirSVR-Score:-0.0175; mirSVR-E:-22.38 | GeneName:MALAT1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000251562; TranscriptID:ENST00000534336; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0175; mirSVR-E:-22.38 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000432700; AnnoType:REGULATORY; mirSVR-Score:-0.0175; mirSVR-E:-22.38 | GeneName:RF01871; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000278217; TranscriptID:ENST00000618249; AnnoType:UPSTREAM; mirSVR-Score:-0.0175; mirSVR-E:-22.38 | NCRV0000004072 30898706 MALAT1 rs3200401 ? N/A 401 Han Chinese MI patients and 409 controls EFO_0000612 N/A increasing risk myocardial infarction rs3200401-? of MALAT1 and its dysfunction is significantly associated with the increasing risk of Myocardial infarction by using two-stage association study in 401 Han Chinese MI patients and 409 controls 0.4 Association of lncRNA polymorphisms with triglyceride and total cholesterol levels among myocardial infarction patients in Chinese population. two-stage association study MALAT1 lncRNA Myocardial infarction 0 GACTTCAGGT(C > T)TGTCTGTTCT chr11: 65504361 0.8568,0.1432 0.81981874362895005,0.18018125637104994 Region score:0.57; TSS score:0.67; Unmatched score:0.79; Average GERP:3.4488239999999992 GeneName:MALAT1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000251562; TranscriptID:ENST00000534336; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0079; mirSVR-E:-14.62 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000432700; AnnoType:REGULATORY; mirSVR-Score:-0.0079; mirSVR-E:-14.62 | GeneName:RF01684; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000274072; TranscriptID:ENST00000611300; AnnoType:UPSTREAM; mirSVR-Score:-0.0079; mirSVR-E:-14.62 | GeneName:RF01871; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000278217; TranscriptID:ENST00000618249; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0079; mirSVR-E:-14.62 | NCRV0000004072 30898706 MALAT1 rs3200401 ? N/A 401 Han Chinese MI patients and 409 controls EFO_0000612 N/A no significance for risk myocardial infarction rs3200401-? of MALAT1 and its dysfunction is not significantly associated with Myocardial infarction by using two-stage association study in 401 Han Chinese MI patients and 409 controls -0.4 Association of lncRNA polymorphisms with triglyceride and total cholesterol levels among myocardial infarction patients in Chinese population. two-stage association study MALAT1 lncRNA Myocardial infarction 0 GACTTCAGGT(C > T)TGTCTGTTCT chr11: 65504361 0.8568,0.1432 0.81981874362895005,0.18018125637104994 Region score:0.57; TSS score:0.67; Unmatched score:0.79; Average GERP:3.4488239999999992 GeneName:MALAT1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000251562; TranscriptID:ENST00000534336; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0079; mirSVR-E:-14.62 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000432700; AnnoType:REGULATORY; mirSVR-Score:-0.0079; mirSVR-E:-14.62 | GeneName:RF01684; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000274072; TranscriptID:ENST00000611300; AnnoType:UPSTREAM; mirSVR-Score:-0.0079; mirSVR-E:-14.62 | GeneName:RF01871; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000278217; TranscriptID:ENST00000618249; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0079; mirSVR-E:-14.62 | NCRV0000004073 30822187 MALAT1 rs619586 G Dominant 428 Iranian MS patients and 505 healthy subjects EFO_0003885 N/A decreasing risk multiple sclerosis rs619586-G of MALAT1 and its dysfunction is significantly associated with the decreasing risk of Multiple sclerosis by using two-stage association study in 428 Iranian MS patients and 505 healthy subjects 0.4 MALAT1 Genomic Variants and Risk of Multiple Sclerosis. two-stage association study MALAT1 lncRNA Multiple sclerosis 0.33 AACTATACCT(A > G)CTGTCCCTCA chr11: 65498698 0.9339,0.06609 0.96578746177370030,0.03421253822629969 Region score:0.55; TSS score:0.57; Unmatched score:0.77; Average GERP:-1.3899496039603956 GeneName:AP000769.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000270117; TranscriptID:ENST00000602344; AnnoType:UPSTREAM; mirSVR-Score:-0.0175; mirSVR-E:-22.38 | GeneName:MALAT1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000251562; TranscriptID:ENST00000534336; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0175; mirSVR-E:-22.38 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000432700; AnnoType:REGULATORY; mirSVR-Score:-0.0175; mirSVR-E:-22.38 | GeneName:RF01871; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000278217; TranscriptID:ENST00000618249; AnnoType:UPSTREAM; mirSVR-Score:-0.0175; mirSVR-E:-22.38 | NCRV0000004074 30822187 MALAT1 rs3200401 ? N/A 428 Iranian MS patients and 505 healthy subjects EFO_0003885 N/A no significance for risk multiple sclerosis rs3200401-? of MALAT1 and its dysfunction is not significantly associated with Multiple sclerosis by using two-stage association study in 428 Iranian MS patients and 505 healthy subjects -0.4 MALAT1 Genomic Variants and Risk of Multiple Sclerosis. two-stage association study MALAT1 lncRNA Multiple sclerosis -0.33 GACTTCAGGT(C > T)TGTCTGTTCT chr11: 65504361 0.8568,0.1432 0.81981874362895005,0.18018125637104994 Region score:0.57; TSS score:0.67; Unmatched score:0.79; Average GERP:3.4488239999999992 GeneName:MALAT1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000251562; TranscriptID:ENST00000534336; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0079; mirSVR-E:-14.62 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000432700; AnnoType:REGULATORY; mirSVR-Score:-0.0079; mirSVR-E:-14.62 | GeneName:RF01684; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000274072; TranscriptID:ENST00000611300; AnnoType:UPSTREAM; mirSVR-Score:-0.0079; mirSVR-E:-14.62 | GeneName:RF01871; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000278217; TranscriptID:ENST00000618249; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0079; mirSVR-E:-14.62 | NCRV0000004075 30980423 LOC105369301 rs219741 A Dominant 1294 cases with NSCLC and 1729 healthy controls EFO_0003060 N/A increasing risk non-small cell lung carcinoma rs219741-A of LOC105369301 and its dysfunction is significantly associated with the increasing risk of Non-small cell lung carcinoma by using two-stage association study in 1294 cases with NSCLC and 1729 healthy controls 0.4 SNPs in LncRNA genes are associated with non-small cell lung cancer in a Chinese population. two-stage association study LOC105369301 lncRNA Non-small cell lung carcinoma 0.33 AAGAATTTCC(C > T)GCCCCTTCGT chr21:36480738 0.6617,0.3383 0.66078937308868501,0.33921062691131498 Region score:0.3;TSS score:0.27;Unmatched score:0.66;Average GERP:0.105 GeneName:CLDN14; CADD_score:1; Consquence:upstream; GeneID:ENSG00000159261; TranscriptID:ENST00000399137; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AP000695.1; CADD_score:5; Consquence:noncoding_change; GeneID:ENSG00000230479; TranscriptID:ENST00000429588; AnnoType:NonCodingTranscript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AP000695.2; CADD_score:2; Consquence:intronic; GeneID:ENSG00000233818; TranscriptID:ENST00000428667; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004076 30980423 LOC100128340 rs4077205 ? N/A 1294 cases with NSCLC and 1729 healthy controls EFO_0003060 N/A no significance for risk non-small cell lung carcinoma rs4077205-? of LOC100128340 and its dysfunction is not significantly associated with Non-small cell lung carcinoma by using two-stage association study in 1294 cases with NSCLC and 1729 healthy controls -0.4 SNPs in LncRNA genes are associated with non-small cell lung cancer in a Chinese population. two-stage association study LOC100128340 lncRNA Non-small cell lung carcinoma -0.33 GCCATAAGGA(A > C,G,T)TGAAGCCTCT chr5:177957648 0.2997,.,0.7003 0.25789213812436289,0.00012742099898063,0.74198044087665647 Region score:0.29;TSS score:0.23;Unmatched score:0.45;Average GERP:0.879 GeneName:AC106795.2; CADD_score:5; Consquence:noncoding_change; GeneID:ENSG00000249684; TranscriptID:ENST00000502514; AnnoType:NonCodingTranscript; mirSVR-Score:-0.4607; mirSVR-E:-21.18 | GeneName:AC106795.3; CADD_score:2; Consquence:intronic; GeneID:ENSG00000250101; TranscriptID:ENST00000511650; AnnoType:Transcript; mirSVR-Score:-0.4607; mirSVR-E:-21.18 | NCRV0000004077 31322790 lnc-USP6-2 rs75511804 T N/A late-onset AD including 455,258 individuals of European ancestry EFO_0000249 N/A increasing risk Alzheimer's disease rs75511804-T of lnc-USP6-2 and its dysfunction is significantly associated with the increasing risk of Alzheimers disease by using genome-wide association analysis in late-onset AD including 455,258 individuals of European ancestry 0.4 A functional variant in the miR-142 promoter modulating its expression and conferring risk of Alzheimer disease. genome-wide association analysis lnc-USP6-2 lncRNA Alzheimers disease 0.33 TGTCGCTCCC(C > T)GCAAGGCCTA chr17:5235009 0.9475,0.05252 0.92304568042813455,0.07695431957186544 Region score:0.51;TSS score:0.44;Unmatched score:0.89;Average GERP:-1.735 GeneName:SCIMP; CADD_score:1; Consquence:upstream; GeneID:ENSG00000161929; TranscriptID:ENST00000574081; AnnoType:Intergenic; mirSVR-Score:-0.0516; mirSVR-E:-14.49 | GeneName:AC087500.1; CADD_score:5; Consquence:noncoding_change; GeneID:ENSG00000261879; TranscriptID:ENST00000571689; AnnoType:NonCodingTranscript; mirSVR-Score:-0.0516; mirSVR-E:-14.49 | GeneName:NA; CADD_score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000547958; AnnoType:RegulatoryFeature; mirSVR-Score:-0.0516; mirSVR-E:-14.49 | NCRV0000004078 31322790 lnc-USP6-1 rs56229705 A N/A late-onset AD including 455,258 individuals of European ancestry EFO_0000249 N/A increasing risk Alzheimer's disease rs56229705-A of lnc-USP6-1 and its dysfunction is significantly associated with the increasing risk of Alzheimers disease by using genome-wide association analysis in late-onset AD including 455,258 individuals of European ancestry 0.4 A functional variant in the miR-142 promoter modulating its expression and conferring risk of Alzheimer disease. genome-wide association analysis lnc-USP6-1 lncRNA Alzheimers disease 0.33 CCCGGCCTCG(G > A,C)GGCAGGTGCC chr17:5111494 0.8906,0.1094,. 0.86923419979612640,0.13075783639143730,0.00000796381243628 Region score:0.19;TSS score:0.34;Unmatched score:0.86;Average GERP:-1.455 GeneName:USP6; CADD_score:1; Consquence:UPSTREAM; GeneID:ENSG00000129204; TranscriptID:ENST00000574788; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC012146.1; CADD_score:1; Consquence:UPSTREAM; GeneID:ENSG00000234327; TranscriptID:ENST00000623522; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD_score:4; Consquence:REGULATORY; GeneID:NA; TranscriptID:ENSR00000090584; AnnoType:RegulatoryFeature; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD_score:4; Consquence:REGULATORY; GeneID:NA; TranscriptID:ENSR00000547934; AnnoType:RegulatoryFeature; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ZNF232; CADD_score:2; Consquence:INTRONIC; GeneID:ENSG00000167840; TranscriptID:ENST00000250076; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:USP6; CADD_score:1; Consquence:UPSTREAM; GeneID:ENSG00000129204; TranscriptID:ENST00000574788; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC012146.1; CADD_score:1; Consquence:UPSTREAM; GeneID:ENSG00000234327; TranscriptID:ENST00000623522; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD_score:4; Consquence:REGULATORY; GeneID:NA; TranscriptID:ENSR00000090584; AnnoType:RegulatoryFeature; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD_score:4; Consquence:REGULATORY; GeneID:NA; TranscriptID:ENSR00000547934; AnnoType:RegulatoryFeature; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ZNF232; CADD_score:2; Consquence:INTRONIC; GeneID:ENSG00000167840; TranscriptID:ENST00000250076; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004079 31322790 lnc-BZRAP1-1 rs2632516 A N/A late-onset AD including 455,258 individuals of European ancestry EFO_0000249 N/A decreasing risk Alzheimer's disease rs2632516-A of lnc-BZRAP1-1 and its dysfunction is significantly associated with the decreasing risk of Alzheimers disease by using genome-wide association analysis in late-onset AD including 455,258 individuals of European ancestry 0.4 A functional variant in the miR-142 promoter modulating its expression and conferring risk of Alzheimer disease. genome-wide association analysis lnc-BZRAP1-1 lncRNA Alzheimers disease 0.33 ACCCCAACCG(G > A,C,T)TGAGGTCCTG chr17:58331728 0.4718,0.5282 0.50414914627930682,0.49585085372069317 Region score:0.37;TSS score:0.42;Unmatched score:0.74;Average GERP:1.334 GeneName:MIR4736; CADD_score:1; Consquence:downstream; GeneID:ENSG00000264399; TranscriptID:ENST00000581591; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TSPOAP1; CADD_score:1; Consquence:upstream; GeneID:ENSG00000005379; TranscriptID:ENST00000343736; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR142; CADD_score:1; Consquence:upstream; GeneID:ENSG00000284353; TranscriptID:ENST00000384835; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC004687.1; CADD_score:5; Consquence:noncoding_change; GeneID:ENSG00000265206; TranscriptID:ENST00000579003; AnnoType:NonCodingTranscript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD_score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000096246; AnnoType:RegulatoryFeature; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD_score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000559805; AnnoType:RegulatoryFeature; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TSPOAP1-AS1; CADD_score:2; Consquence:intronic; GeneID:ENSG00000265148; TranscriptID:ENST00000580515; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004080 30980423 LINC02466 rs6830064 ? N/A 1294 cases with NSCLC and 1729 healthy controls EFO_0003060 N/A no significance for risk non-small cell lung carcinoma rs6830064-? of LINC02466 and its dysfunction is not significantly associated with Non-small cell lung carcinoma by using two-stage association study in 1294 cases with NSCLC and 1729 healthy controls -0.4 SNPs in LncRNA genes are associated with non-small cell lung cancer in a Chinese population. two-stage association study LINC02466 lncRNA Non-small cell lung carcinoma -0.33 TATATAAAAT(T > C,G)TGTATTATCA chr4:129725387 0.7778,.,0.2222 0.75168832823649337,0.00000796381243628,0.24830370795107033 Region score:0.41;TSS score:0.29;Unmatched score:0.46;Average GERP:1.693 GeneName:LINC02466; CADD_score:5; Consquence:NONCODING_CHANGE; GeneID:ENSG00000246876; TranscriptID:ENST00000500092; AnnoType:NonCodingTranscript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LINC02466; CADD_score:5; Consquence:NONCODING_CHANGE; GeneID:ENSG00000246876; TranscriptID:ENST00000500092; AnnoType:NonCodingTranscript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004081 30980423 LINC01833 rs498238 T recessive 1294 cases with NSCLC and 1729 healthy controls EFO_0003060 N/A decreasing risk non-small cell lung carcinoma rs498238-T of LINC01833 and its dysfunction is significantly associated with the decreasing risk of Non-small cell lung carcinoma by using two-stage association study in 1294 cases with NSCLC and 1729 healthy controls 0.4 SNPs in LncRNA genes are associated with non-small cell lung cancer in a Chinese population. two-stage association study LINC01833 lncRNA Non-small cell lung carcinoma 0.33 CAAGGAACCG(G > A)GCAGATTCGG chr2:44921691 0.763,0.237 0.76419151376146788,0.23580848623853211 Region score:0.27;TSS score:0.22;Unmatched score:0.43;Average GERP:-0.43 GeneName:LINC01833; CADD_score:5; Consquence:noncoding_change; GeneID:ENSG00000259439; TranscriptID:ENST00000437916; AnnoType:NonCodingTranscript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004082 30980423 LINC01833 rs496467 ? N/A 1294 cases with NSCLC and 1729 healthy controls EFO_0003060 N/A no significance for risk non-small cell lung carcinoma rs496467-? of LINC01833 and its dysfunction is not significantly associated with Non-small cell lung carcinoma by using two-stage association study in 1294 cases with NSCLC and 1729 healthy controls -0.4 SNPs in LncRNA genes are associated with non-small cell lung cancer in a Chinese population. two-stage association study LINC01833 lncRNA Non-small cell lung carcinoma -0.33 CATATTAATC(C > A,T)TGGGGAAGAC chr2:44921864 0.5345,0.4655 0.62046859072375127,0.37953140927624872 Region score:0.31;TSS score:0.23;Unmatched score:0.47;Average GERP:0.8275 GeneName:LINC01833; CADD_score:5; Consquence:NONCODING_CHANGE; GeneID:ENSG00000259439; TranscriptID:ENST00000437916; AnnoType:NonCodingTranscript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LINC01833; CADD_score:5; Consquence:NONCODING_CHANGE; GeneID:ENSG00000259439; TranscriptID:ENST00000437916; AnnoType:NonCodingTranscript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004083 30980423 LINC01833 rs13431201 ? N/A 1294 cases with NSCLC and 1729 healthy controls EFO_0003060 N/A no significance for risk non-small cell lung carcinoma rs13431201-? of LINC01833 and its dysfunction is not significantly associated with Non-small cell lung carcinoma by using two-stage association study in 1294 cases with NSCLC and 1729 healthy controls -0.4 SNPs in LncRNA genes are associated with non-small cell lung cancer in a Chinese population. two-stage association study LINC01833 lncRNA Non-small cell lung carcinoma -0.33 AGCCATAGTC(C > G)CTGGGAGTAG chr2:44922015 0.9305,0.06949 0.94270833333333333,0.05729166666666666 Region score:0.18;TSS score:0.31;Unmatched score:0.62;Average GERP:2.42 GeneName:LINC01833; CADD_score:5; Consquence:noncoding_change; GeneID:ENSG00000259439; TranscriptID:ENST00000437916; AnnoType:NonCodingTranscript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004084 30980423 LINC01833 rs1992825 ? N/A 1294 cases with NSCLC and 1729 healthy controls EFO_0003060 N/A no significance for risk non-small cell lung carcinoma rs1992825-? of LINC01833 and its dysfunction is not significantly associated with Non-small cell lung carcinoma by using two-stage association study in 1294 cases with NSCLC and 1729 healthy controls -0.4 SNPs in LncRNA genes are associated with non-small cell lung cancer in a Chinese population. two-stage association study LINC01833 lncRNA Non-small cell lung carcinoma -0.33 CTTCCTTTTG(G > C)TATGTGCAGC chr2:44923139 0.7853,0.2147 0.82046381243628950,0.17953618756371049 Region score:0.41;TSS score:0.39;Unmatched score:0.78;Average GERP:3.215 GeneName:AC012354.3; CADD_score:1; Consquence:downstream; GeneID:ENSG00000278957; TranscriptID:ENST00000623734; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LINC01833; CADD_score:5; Consquence:noncoding_change; GeneID:ENSG00000259439; TranscriptID:ENST00000437916; AnnoType:NonCodingTranscript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004085 30980423 LINC01833 rs517055 ? N/A 1294 cases with NSCLC and 1729 healthy controls EFO_0003060 N/A no significance for risk non-small cell lung carcinoma rs517055-? of LINC01833 and its dysfunction is not significantly associated with Non-small cell lung carcinoma by using two-stage association study in 1294 cases with NSCLC and 1729 healthy controls -0.4 SNPs in LncRNA genes are associated with non-small cell lung cancer in a Chinese population. two-stage association study LINC01833 lncRNA Non-small cell lung carcinoma -0.33 ACCCAACAGA(A > G,T)AACACCCTTG chr2:44923338 0.5343,0.4657 0.61747419724770642,0.38252580275229357 Region score:0.54;TSS score:0.45;Unmatched score:0.72;Average GERP:-2.39 GeneName:AC012354.3; CADD_score:1; Consquence:DOWNSTREAM; GeneID:ENSG00000278957; TranscriptID:ENST00000623734; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LINC01833; CADD_score:5; Consquence:NONCODING_CHANGE; GeneID:ENSG00000259439; TranscriptID:ENST00000437916; AnnoType:NonCodingTranscript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC012354.3; CADD_score:1; Consquence:DOWNSTREAM; GeneID:ENSG00000278957; TranscriptID:ENST00000623734; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LINC01833; CADD_score:5; Consquence:NONCODING_CHANGE; GeneID:ENSG00000259439; TranscriptID:ENST00000437916; AnnoType:NonCodingTranscript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004086 30980423 LINC01748 rs10889184 ? N/A 1294 cases with NSCLC and 1729 healthy controls EFO_0003060 N/A no significance for risk non-small cell lung carcinoma rs10889184-? of LINC01748 and its dysfunction is not significantly associated with Non-small cell lung carcinoma by using two-stage association study in 1294 cases with NSCLC and 1729 healthy controls -0.4 SNPs in LncRNA genes are associated with non-small cell lung cancer in a Chinese population. two-stage association study LINC01748 lncRNA Non-small cell lung carcinoma -0.33 GGTGCGGGCG(G > A)CAAGTGTTGC chr1:60540378 0.6036,0.3964 0.65868692660550458,0.34131307339449541 Region score:0.34;TSS score:0.45;Unmatched score:0.41;Average GERP:3.335 GeneName:LINC01748; CADD_score:5; Consquence:noncoding_change; GeneID:ENSG00000226476; TranscriptID:ENST00000635048; AnnoType:NonCodingTranscript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004087 30980423 LINC00887 rs62288095 ? N/A 1294 cases with NSCLC and 1729 healthy controls EFO_0003060 N/A no significance for risk non-small cell lung carcinoma rs62288095-? of LINC00887 and its dysfunction is not significantly associated with Non-small cell lung carcinoma by using two-stage association study in 1294 cases with NSCLC and 1729 healthy controls -0.4 SNPs in LncRNA genes are associated with non-small cell lung cancer in a Chinese population. two-stage association study LINC00887 lncRNA Non-small cell lung carcinoma -0.33 GAGACTCACC(C > A,T)GGACTCCAGC chr3:194303359 0.8349,0.1651,. 0.83677370030581039,0.16321037206931702,0.00001592762487257 Region score:0.19;TSS score:0.21;Unmatched score:0.26;Average GERP:-0.52 GeneName:LINC00887; CADD_score:5; Consquence:NONCODING_CHANGE; GeneID:ENSG00000214145; TranscriptID:ENST00000414120; AnnoType:NonCodingTranscript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LINC00887; CADD_score:5; Consquence:NONCODING_CHANGE; GeneID:ENSG00000214145; TranscriptID:ENST00000414120; AnnoType:NonCodingTranscript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004088 30741946 MIR924HG (LINC00669) rs17663182 T N/A nine cohorts of reading-impaired and typically developing children of European ancestry (N = 2562-3468) EFO_0005424 N/A increasing risk dyslexia rs17663182-T of LINC00669 and its dysfunction is significantly associated with the increasing risk of dyslexia by using genome-wide association analysis in nine cohorts of reading-impaired and typically developing children of European ancestry (N = 2562-3468) 0.4 Genome-wide association scan identifies new variants associated with a cognitive predictor of dyslexia. genome-wide association analysis LINC00669 lncRNA dyslexia 0.33 AAGATTTGAG(G > A,T)GCAAGCTCTT chr18:39279238 0.9493,0.05072 0.93705402650356778,0.06294597349643221 Region score:0.36;TSS score:0.12;Unmatched score:0.0;Average GERP:2.319 GeneName:AC016205.1; CADD_score:2; Consquence:INTRONIC; GeneID:ENSG00000267374; TranscriptID:ENST00000591629; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC016205.1; CADD_score:2; Consquence:INTRONIC; GeneID:ENSG00000267374; TranscriptID:ENST00000591629; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004089 30619325 linc00513 rs205764 G N/A 139 SLE patients EFO_0002690 N/A increasing risk systemic lupus erythematosus rs205764-G of linc00513 and its dysfunction is significantly associated with the increasing risk of Systemic lupus erythematosus by using nan in 139 SLE patients 1.4 Identification of LncRNA Linc00513 Containing Lupus-Associated Genetic Variants as a Novel Regulator of Interferon Signaling Pathway. N/A linc00513 lncRNA Systemic lupus erythematosus 0.753 CTCCCTTCTG(G > A,C,T)TTCAAAAACC chr7:130913477 0.3446,0.6554 0.34983435270132517,0.65016564729867482 Region score:0.44;TSS score:0.56;Unmatched score:0.91;Average GERP:0.565 GeneName:AC016831.1; CADD_score:1; Consquence:upstream; GeneID:ENSG00000226380; TranscriptID:ENST00000432045; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD_score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000839490; AnnoType:RegulatoryFeature; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LINC00513; CADD_score:2; Consquence:intronic; GeneID:ENSG00000233559; TranscriptID:ENST00000447430; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC016831.7; CADD_score:2; Consquence:intronic; GeneID:ENSG00000285106; TranscriptID:ENST00000643779; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004090 30619325 linc00513 rs547311 A N/A 139 SLE patients EFO_0002690 N/A increasing risk systemic lupus erythematosus rs547311-A of linc00513 and its dysfunction is significantly associated with the increasing risk of Systemic lupus erythematosus by using nan in 139 SLE patients 1.4 Identification of LncRNA Linc00513 Containing Lupus-Associated Genetic Variants as a Novel Regulator of Interferon Signaling Pathway. N/A linc00513 lncRNA Systemic lupus erythematosus 0.753 AAGCCACTCG(G > A)GGGAGGAGAA chr7:130913695 0.6997,0.3003 0.69226235983690112,0.30773764016309887 Region score:0.33;TSS score:0.48;Unmatched score:0.84;Average GERP:0.48 GeneName:AC016831.1; CADD_score:1; Consquence:upstream; GeneID:ENSG00000226380; TranscriptID:ENST00000432045; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD_score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000839490; AnnoType:RegulatoryFeature; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LINC00513; CADD_score:2; Consquence:intronic; GeneID:ENSG00000233559; TranscriptID:ENST00000447430; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC016831.7; CADD_score:2; Consquence:intronic; GeneID:ENSG00000285106; TranscriptID:ENST00000643779; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004091 29047230 LINC00205 Amplification amplification dominant hepatocellular carcinoma and normal tissues using TCGA RNA sequencing data EFO_0000182 N/A poor prognosis hepatocellular carcinoma Amplification-amplification of LINC00205 and its dysfunction is significantly associated with the poor prognosis of Hepatocellular carcinoma by using case-control analysis in hepatocellular carcinoma and normal tissues using TCGA RNA sequencing data 0.4 A comprehensive genome-wide analysis of long noncoding RNA expression profile in hepatocellular carcinoma. case-control analysis LINC00205 lncRNA Hepatocellular carcinoma 0.33 - - - - - - NCRV0000004092 31545920 IFNG-AS1 rs7134599 A recessive Control (n=198) or IBD (n=200) patients EFO_0003767 N/A increasing risk inflammatory bowel disease rs7134599-A of IFNG-AS1 and its dysfunction is significantly associated with the increasing risk of Inflammatory bowel disease by using two-stage association study in Control (n=198) or IBD (n=200) patients 1.4 The IBD-associated long noncoding RNA IFNG-AS1 regulates the balance between inflammatory and anti-inflammatory cytokine production after T-cell stimulation. two-stage association study IFNG-AS1 lncRNA Inflammatory bowel disease 0.753 AGATCAAGAC(G > A)TGCTTATAAT chr12: 68106295 0.8013,0.1987 0.69092443934760448,0.30907556065239551 Region score:0.4; TSS score:0.32; Unmatched score:0.2; Average GERP:0.6950237623762376 GeneName:IFNG-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000255733; TranscriptID:ENST00000536914; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000461537; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004093 31489712 HULC rs7763881 C N/A 605 patients with glioma and 1300 cancer-free individuals EFO_0005543 N/A better prognosis glioma rs7763881-C of HULC and its dysfunction is significantly associated with the better prognosis of Glioma by using two-stage association study in 605 patients with glioma and 1300 cancer-free individuals 0.4 Impact of four lncRNA polymorphisms (rs2151280, rs7763881, rs1136410, and rs3787016) on glioma risk and prognosis: A case-control study. two-stage association study HULC lncRNA Glioma 0.33 GTTTGTCTGA(A > C)TTGACCTATT chr6: 8653014 0.5829,0.4171 0.56918960244648318,0.43081039755351681 Region score:0.24; TSS score:0.51; Unmatched score:0.77; Average GERP:-0.8653168316831686 GeneName:AL355499.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000285216; TranscriptID:ENST00000644718; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AL591485.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000285219; TranscriptID:ENST00000642357; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000782581; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF02101; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000276019; TranscriptID:ENST00000612720; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004094 31322790 miR-8085 rs2965169 C N/A late-onset AD including 455,258 individuals of European ancestry EFO_0000249 N/A decreasing risk Alzheimer's disease rs2965169-C of hsa-mir-8085 and its dysfunction is significantly associated with the decreasing risk of Alzheimers disease by using genome-wide association analysis in late-onset AD including 455,258 individuals of European ancestry 0.4 A functional variant in the miR-142 promoter modulating its expression and conferring risk of Alzheimer disease. genome-wide association analysis hsa-mir-8085 miRNA Alzheimers disease 0.33 CCCCCAACGA(A > C)GTGCAGAGAC chr19:44747899 0.4655,0.5345 0.49671890927624872,0.50328109072375127 Region score:0.46;TSS score:0.68;Unmatched score:0.96;Average GERP:1.498 GeneName:BCL3; CADD_score:1; Consquence:upstream; GeneID:ENSG00000069399; TranscriptID:ENST00000164227; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD_score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000288650; AnnoType:RegulatoryFeature; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD_score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000591132; AnnoType:RegulatoryFeature; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004095 31322790 miR-6840 rs7384878 T N/A late-onset AD including 455,258 individuals of European ancestry EFO_0000249 N/A decreasing risk Alzheimer's disease rs7384878-T of hsa-mir-6840 and its dysfunction is significantly associated with the decreasing risk of Alzheimers disease by using genome-wide association analysis in late-onset AD including 455,258 individuals of European ancestry 0.4 A functional variant in the miR-142 promoter modulating its expression and conferring risk of Alzheimer disease. genome-wide association analysis hsa-mir-6840 miRNA Alzheimers disease 0.33 GTGTGTTCAC(C > T)TAACTTAGCA chr7:100334426 0.3409,0.6591 0.29216838685015290,0.70783161314984709 - GeneName:RF00019; CADD_score:1; Consquence:upstream; GeneID:ENSG00000201913; TranscriptID:ENST00000365043; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:STAG3L5P; CADD_score:1; Consquence:upstream; GeneID:ENSG00000242294; TranscriptID:ENST00000473757; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:STAG3L5P-PVRIG2P-PILRB; CADD_score:1; Consquence:upstream; GeneID:ENSG00000272752; TranscriptID:ENST00000310771; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD_score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000215776; AnnoType:RegulatoryFeature; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PMS2P1; CADD_score:2; Consquence:intronic; GeneID:ENSG00000078319; TranscriptID:ENST00000431037; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004096 30337581 mir-656 rs58834075 T N/A two cohorts of osteosarcoma patients (n = 100) and their corresponding controls (n = 256) from Spanish and Slovenian populations EFO_0000637 N/A increasing risk osteosarcoma rs58834075-T of hsa-mir-656 and its dysfunction is significantly associated with the increasing risk of Osteosarcoma by using two-stage association study in two cohorts of osteosarcoma patients (n = 100) and their corresponding controls (n = 256) from Spanish and Slovenian populations 0.4 Variants in the 14q32 miRNA cluster are associated with osteosarcoma risk in the Spanish population. two-stage association study hsa-mir-656 miRNA Osteosarcoma 0.33 GTTCACTTTC(C > G,T)TATATGATGA chr14:101066756 0.9073,.,0.09265 0.92932116462793068,.,0.07067883537206931 Region score:0.47;TSS score:0.46;Unmatched score:0.61;Average GERP:3.9 GeneName:MIR412; CADD_score:1; Consquence:DOWNSTREAM; GeneID:ENSG00000199012; TranscriptID:ENST00000362142; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR377; CADD_score:1; Consquence:DOWNSTREAM; GeneID:ENSG00000199015; TranscriptID:ENST00000362145; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR369; CADD_score:1; Consquence:DOWNSTREAM; GeneID:ENSG00000199025; TranscriptID:ENST00000362155; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR410; CADD_score:1; Consquence:DOWNSTREAM; GeneID:ENSG00000199092; TranscriptID:ENST00000362222; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR409; CADD_score:1; Consquence:DOWNSTREAM; GeneID:ENSG00000199107; TranscriptID:ENST00000362237; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR541; CADD_score:1; Consquence:DOWNSTREAM; GeneID:ENSG00000216179; TranscriptID:ENST00000401360; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MEG9; CADD_score:1; Consquence:UPSTREAM; GeneID:ENSG00000223403; TranscriptID:ENST00000429368; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR656; CADD_score:5; Consquence:NONCODING_CHANGE; GeneID:ENSG00000207959; TranscriptID:ENST00000385224; AnnoType:NonCodingTranscript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR412; CADD_score:1; Consquence:DOWNSTREAM; GeneID:ENSG00000199012; TranscriptID:ENST00000362142; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR377; CADD_score:1; Consquence:DOWNSTREAM; GeneID:ENSG00000199015; TranscriptID:ENST00000362145; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR369; CADD_score:1; Consquence:DOWNSTREAM; GeneID:ENSG00000199025; TranscriptID:ENST00000362155; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR410; CADD_score:1; Consquence:DOWNSTREAM; GeneID:ENSG00000199092; TranscriptID:ENST00000362222; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR409; CADD_score:1; Consquence:DOWNSTREAM; GeneID:ENSG00000199107; TranscriptID:ENST00000362237; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR541; CADD_score:1; Consquence:DOWNSTREAM; GeneID:ENSG00000216179; TranscriptID:ENST00000401360; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MEG9; CADD_score:1; Consquence:UPSTREAM; GeneID:ENSG00000223403; TranscriptID:ENST00000429368; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR656; CADD_score:5; Consquence:NONCODING_CHANGE; GeneID:ENSG00000207959; TranscriptID:ENST00000385224; AnnoType:NonCodingTranscript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004097 30341278 MIR579 rs2910931 T Dominant cases聽= 506, controls聽= 506 EFO_0004262 N/A increasing risk panic disorder rs2910931-T of hsa-mir-579 and its dysfunction is significantly associated with the increasing risk of Panic disorder by using two-stage association study in cases?= 506, controls?= 506 0.9 A functional genetic variation of SLC6A2 repressor hsa-miR-579-3p upregulates sympathetic noradrenergic processes of fear and anxiety. two-stage association study hsa-mir-579 miRNA Panic disorder 0.593 GGACATTATT(T > A,C,G)AACATGTAGA chr5:32394809 0.3624,0.6376 0.37238786952089704,0.62761213047910295 Region score:0.42;TSS score:0.04;Unmatched score:0.21;Average GERP:2.0595 GeneName:MIR579; CADD_score:1; Consquence:upstream; GeneID:ENSG00000207956; TranscriptID:ENST00000385221; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ZFR; CADD_score:2; Consquence:intronic; GeneID:ENSG00000056097; TranscriptID:ENST00000265069; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004098 30341278 MIR579 rs2910931 T Dominant n = 3112 EFO_0006788 N/A increasing risk anxiety disorder rs2910931-T of hsa-mir-579 and its dysfunction is significantly associated with the increasing risk of Anxiety disorder by using two-stage association study in n = 3112 0.9 A functional genetic variation of SLC6A2 repressor hsa-miR-579-3p upregulates sympathetic noradrenergic processes of fear and anxiety. two-stage association study hsa-mir-579 miRNA Anxiety disorder 0.593 GGACATTATT(T > A,C,G)AACATGTAGA chr5:32394809 0.3624,0.6376 0.37238786952089704,0.62761213047910295 Region score:0.42;TSS score:0.04;Unmatched score:0.21;Average GERP:2.0595 GeneName:MIR579; CADD_score:1; Consquence:upstream; GeneID:ENSG00000207956; TranscriptID:ENST00000385221; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ZFR; CADD_score:2; Consquence:intronic; GeneID:ENSG00000056097; TranscriptID:ENST00000265069; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004099 19789318 miR-562 Deletion del Dominant 226 sporadic Wilms' tumor samples MONDO_0019004 N/A increasing risk kidney Wilms tumor Deletion-del of hsa-mir-562 and its dysfunction is significantly associated with the increasing risk of Kidney wilms tumor by using analysis of sequence variation in 226 sporadic Wilms' tumor samples 0.9 Loss of heterozygosity at 2q37 in sporadic Wilms' tumor: putative role for miR-562. analysis of sequence variation hsa-mir-562 miRNA Kidney wilms tumor 0.593 - - - - - - NCRV0000004100 21793975 miR-548d-2 Deletion del Dominant 48 medulloblastomas EFO_0002939 N/A increasing risk medulloblastoma Deletion-del of hsa-mir-548d-2 and its dysfunction is significantly associated with the increasing risk of Medulloblastoma by using analysis of sequence variation in 48 medulloblastomas 0.4 Genetic alterations in microRNAs in medulloblastomas. analysis of sequence variation hsa-mir-548d-2 miRNA Medulloblastoma 0.33 - - - - - - NCRV0000004101 21793975 miR-548d-1 Deletion del Dominant 48 medulloblastomas EFO_0002939 N/A increasing risk medulloblastoma Deletion-del of hsa-mir-548d-1 and its dysfunction is significantly associated with the increasing risk of Medulloblastoma by using analysis of sequence variation in 48 medulloblastomas 0.4 Genetic alterations in microRNAs in medulloblastomas. analysis of sequence variation hsa-mir-548d-1 miRNA Medulloblastoma 0.33 - - - - - - NCRV0000004102 30730892 microRNA-548ac rs1414273 G N/A more than 1000 subjects EFO_0003885 N/A increasing risk multiple sclerosis rs1414273-G of hsa-Mir-548ac and its dysfunction is significantly associated with the increasing risk of Multiple sclerosis by using two-stage association study in more than 1000 subjects 1.4 A genetic variant associated with multiple sclerosis inversely affects the expression of CD58 and microRNA-548ac from the same gene. two-stage association study hsa-Mir-548ac miRNA Multiple sclerosis 0.753 TAGTAACTAC(C > G,T)TAGGTTAGTG chr1:116560027 0.5719,0.4281 0.70991016819571865,0.29008983180428134 Region score:0.3;TSS score:0.25;Unmatched score:0.53;Average GERP:0.477 GeneName:MIR548AC; CADD_score:5; Consquence:NONCODING_CHANGE; GeneID:ENSG00000264419; TranscriptID:ENST00000585049; AnnoType:NonCodingTranscript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CD58; CADD_score:2; Consquence:INTRONIC; GeneID:ENSG00000116815; TranscriptID:ENST00000369489; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR548AC; CADD_score:5; Consquence:NONCODING_CHANGE; GeneID:ENSG00000264419; TranscriptID:ENST00000585049; AnnoType:NonCodingTranscript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CD58; CADD_score:2; Consquence:INTRONIC; GeneID:ENSG00000116815; TranscriptID:ENST00000369489; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004103 21793975 miR-512-2 Deletion del Dominant 48 medulloblastomas EFO_0002939 N/A increasing risk medulloblastoma Deletion-del of hsa-mir-512-2 and its dysfunction is significantly associated with the increasing risk of Medulloblastoma by using analysis of sequence variation in 48 medulloblastomas 0.4 Genetic alterations in microRNAs in medulloblastomas. analysis of sequence variation hsa-mir-512-2 miRNA Medulloblastoma 0.33 - - - - - - NCRV0000004104 22159951 mir-499 rs3746444 G recessive 956 CAD patients diagnosed by coronary arterial angiography and 620 controls EFO_0001645 N/A increasing risk coronary artery disease rs3746444-G of hsa-mir-499a and its dysfunction is significantly associated with the increasing risk of Coronary heart disease by using case-control analysis in 956 CAD patients diagnosed by coronary arterial angiography and 620 controls 0.4 Polymorphisms of miRNAs genes are associated with the risk and prognosis of coronary artery disease. case-control analysis hsa-mir-499a miRNA Coronary heart disease 0.181 CCACGTGAAC(A > G)TCACAGCAAG chr20: 34990448 0.8165,0.1835 0.81708715596330275,0.18291284403669724 Region score:0.79; TSS score:0.85; Unmatched score:0.95; Average GERP:3.757564356435645 GeneName:MIR499A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207635; TranscriptID:ENST00000384903; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR499B; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283441; TranscriptID:ENST00000636498; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYH7B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000078814; TranscriptID:ENST00000262873; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004104 24447667 miR-499 rs3746444 C N/A 295 coronary artery disease patients and 283 controls in a Chinese population EFO_0001645 N/A no significance for risk coronary artery disease rs3746444-C of hsa-mir-499a and its dysfunction is not significantly associated with Coronary heart disease by using case-control analysis in 295 coronary artery disease patients and 283 controls in a Chinese population -0.4 A common variant in pre-miR-146 is associated with coronary artery disease risk and its mature miRNA expression. case-control analysis hsa-mir-499a miRNA Coronary heart disease 0.181 CCACGTGAAC(A > G)TCACAGCAAG chr20: 34990448 0.8165,0.1835 0.81708715596330275,0.18291284403669724 Region score:0.79; TSS score:0.85; Unmatched score:0.95; Average GERP:3.757564356435645 GeneName:MIR499A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207635; TranscriptID:ENST00000384903; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR499B; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283441; TranscriptID:ENST00000636498; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYH7B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000078814; TranscriptID:ENST00000262873; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004104 28271678 miR-499 rs3746444 G Recessive 288 CAD patients and 150 control subjects EFO_0001645 N/A increasing risk coronary artery disease rs3746444-G of hsa-mir-499a and its dysfunction is significantly associated with the increasing risk of Coronary heart disease by using case-control analysis in 288 CAD patients and 150 control subjects 0.4 The pre-mir-499 Variant rs3746444 May Contribute to Coronary Artery Disease Susceptibility: a Case-Control and Meta-Analysis Study. case-control analysis hsa-mir-499a miRNA Coronary heart disease 0.181 CCACGTGAAC(A > G)TCACAGCAAG chr20: 34990448 0.8165,0.1835 0.81708715596330275,0.18291284403669724 Region score:0.79; TSS score:0.85; Unmatched score:0.95; Average GERP:3.757564356435645 GeneName:MIR499A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207635; TranscriptID:ENST00000384903; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR499B; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283441; TranscriptID:ENST00000636498; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYH7B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000078814; TranscriptID:ENST00000262873; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004105 31219360 miR499 rs3746444 ? N/A 380 PTB patients, 242 EPTB patients, and 606 healthy control (HC) subjects from a Chinese Han population Orphanet_3389 N/A no significance for risk Tuberculosis rs3746444-? of hsa-mir-499a and its dysfunction is not significantly associated with Tuberculosis by using two-stage association study in 380 PTB patients, 242 EPTB patients, and 606 healthy control (HC) subjects from a Chinese Han population -0.4 Genetic Polymorphisms of miR-149 Associated with Susceptibility to Both Pulmonary and Extrapulmonary Tuberculosis. two-stage association study hsa-mir-499a miRNA Tuberculosis -0.33 CCACGTGAAC(A > G)TCACAGCAAG chr20: 34990448 0.8165,0.1835 0.81708715596330275,0.18291284403669724 Region score:0.79; TSS score:0.85; Unmatched score:0.95; Average GERP:3.757564356435645 GeneName:MIR499A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207635; TranscriptID:ENST00000384903; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR499B; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283441; TranscriptID:ENST00000636498; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYH7B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000078814; TranscriptID:ENST00000262873; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004106 30872409 miR-499 rs3746444 ? N/A Three hundred samples EFO_0001061 N/A no significance for risk cervical carcinoma rs3746444-? of hsa-mir-499a and its dysfunction is not significantly associated with Cervical carcinoma by using two-stage association study in Three hundred samples -0.4 Impacts of single nucleotide polymorphisms in three microRNAs (miR-146a, miR-196a2 and miR-499) on the susceptibility to cervical cancer among Indian women. two-stage association study hsa-mir-499a miRNA Cervical carcinoma -0.33 CCACGTGAAC(A > G)TCACAGCAAG chr20: 34990448 0.8165,0.1835 0.81708715596330275,0.18291284403669724 Region score:0.79; TSS score:0.85; Unmatched score:0.95; Average GERP:3.757564356435645 GeneName:MIR499A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207635; TranscriptID:ENST00000384903; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR499B; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283441; TranscriptID:ENST00000636498; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYH7B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000078814; TranscriptID:ENST00000262873; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004107 30637557 miR-499 rs3746444 ? N/A 300 control individuals and 203 VTE patients EFO_0004286 N/A no significance for risk venous thromboembolism rs3746444-? of hsa-mir-499a and its dysfunction is not significantly associated with Venous thromboembolism by using two-stage association study in 300 control individuals and 203 VTE patients -0.4 Association study of miR-146a, miR-149, miR-196a2, and miR-499 polymorphisms with venous thromboembolism in a Korean population. two-stage association study hsa-mir-499a miRNA Venous thromboembolism -0.33 CCACGTGAAC(A > G)TCACAGCAAG chr20: 34990448 0.8165,0.1835 0.81708715596330275,0.18291284403669724 Region score:0.79; TSS score:0.85; Unmatched score:0.95; Average GERP:3.757564356435645 GeneName:MIR499A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207635; TranscriptID:ENST00000384903; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR499B; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283441; TranscriptID:ENST00000636498; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYH7B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000078814; TranscriptID:ENST00000262873; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004108 31099778 MIR499A rs3746444 ? N/A 110 patients with PPMS锛?564 patients with RRMS and 424 healthy volunteers EFO_0003885 N/A no significance for risk multiple sclerosis rs3746444-? of hsa-mir-499a and its dysfunction is not significantly associated with Multiple sclerosis by using two-stage association study in 110 patients with PPMS锛?564 patients with RRMS and 424 healthy volunteers -0.4 [Variability of the MIR196A2 Gene as a Risk Factor in Primary-Progressive Multiple Sclerosis Development]. two-stage association study hsa-mir-499a miRNA Multiple sclerosis -0.33 CCACGTGAAC(A > G)TCACAGCAAG chr20: 34990448 0.8165,0.1835 0.81708715596330275,0.18291284403669724 Region score:0.79; TSS score:0.85; Unmatched score:0.95; Average GERP:3.757564356435645 GeneName:MIR499A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207635; TranscriptID:ENST00000384903; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR499B; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283441; TranscriptID:ENST00000636498; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYH7B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000078814; TranscriptID:ENST00000262873; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004109 31307168 pre-miR-499 rs3746444 C recessive 65 AF patients were confirmed with electrocardiogram (ECG) or dynamic electrocardiography, 58 normal individuals were assigned to the control group EFO_0000275 N/A increasing risk atrial fibrillation rs3746444-C of hsa-mir-499 and its dysfunction is significantly associated with the increasing risk of Atrial fibrillation by using two-stage association study in 65 AF patients were confirmed with electrocardiogram (ECG) or dynamic electrocardiography, 58 normal individuals were assigned to the control group 0.4 Effects of Polymorphisms in Pre-miRNA on Inflammatory Markers in Atrial Fibrillation in Han Chinese. two-stage association study hsa-mir-499 miRNA Atrial fibrillation 0.33 CCACGTGAAC(A > G)TCACAGCAAG chr20: 34990448 0.8165,0.1835 0.81708715596330275,0.18291284403669724 Region score:0.79; TSS score:0.85; Unmatched score:0.95; Average GERP:3.757564356435645 GeneName:MIR499A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207635; TranscriptID:ENST00000384903; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR499B; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283441; TranscriptID:ENST00000636498; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYH7B; CADD-Score:2; Consquence:intron; GeneID:ENSG00000078814; TranscriptID:ENST00000262873; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004110 30479191 mir-4751 rs8667 A Dominant 179 Spanish children with B-cell precursor ALL homogeneously treated with LAL/SHOP protocols HP_0002014 N/A increasing risk Diarrhea rs8667-A of hsa-mir-4751 and its dysfunction is significantly associated with the increasing risk of Diarrhea by using two-stage association study in 179 Spanish children with B-cell precursor ALL homogeneously treated with LAL/SHOP protocols 0.4 Involvement of miRNA polymorphism in mucositis development in childhood acute lymphoblastic leukemia treatment. two-stage association study hsa-mir-4751 miRNA Diarrhea 0.33 TGTGGCTTCT(G > A)GGGGCTGGTC chr19: 49933114 0.7149,0.2851 0.70502835117227319,0.29497164882772680 Region score:0.33; TSS score:0.48; Unmatched score:0.75; Average GERP:-0.7590538613861386 GeneName:AC011452.1; CADD-Score:2; Consquence:intron,NMD; GeneID:ENSG00000269179; TranscriptID:ENST00000451973; AnnoType:INTRONIC; mirSVR-Score:-0.0555; mirSVR-E:-28.92 | GeneName:ATF5; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000169136; TranscriptID:ENST00000423777; AnnoType:3PRIME_UTR; mirSVR-Score:-0.0555; mirSVR-E:-28.92 | GeneName:IL4I1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000104951; TranscriptID:ENST00000595948; AnnoType:UPSTREAM; mirSVR-Score:-0.0555; mirSVR-E:-28.92 | GeneName:MIR4751; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000283842; TranscriptID:ENST00000578027; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0555; mirSVR-E:-28.92 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000592744; AnnoType:REGULATORY; mirSVR-Score:-0.0555; mirSVR-E:-28.92 | GeneName:NUP62; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000213024; TranscriptID:ENST00000596217; AnnoType:UPSTREAM; mirSVR-Score:-0.0555; mirSVR-E:-28.92 | NCRV0000004111 30518759 RP11-362K14.5 (CCSlnc362) rs1317082 C Dominant CRC cells and tissues EFO_0005842 N/A decreasing risk colorectal cancer rs1317082-C of hsa-mir-4658 and its dysfunction is significantly associated with the decreasing risk of Colorectal cancer by using nan in CRC cells and tissues 1.4 Variant of SNP rs1317082 at CCSlnc362 (RP11-362K14.5) creates a binding site for miR-4658 and diminishes the susceptibility to CRC. N/A hsa-mir-4658 miRNA Colorectal cancer 0.753 CAAATAAGTA(A > G)TGTTGATTCT chr3:169779797 0.7328,0.2672 0.78087570081549439,0.21912429918450560 Region score:0.52;TSS score:0.18;Unmatched score:0.17;Average GERP:2.164 GeneName:AC078795.1; CADD_score:5; Consquence:noncoding_change; GeneID:ENSG00000269984; TranscriptID:ENST00000602342; AnnoType:NonCodingTranscript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MYNN; CADD_score:2; Consquence:intronic; GeneID:ENSG00000085274; TranscriptID:ENST00000349841; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004112 31322790 miR-4531 rs203709 A N/A late-onset AD including 455,258 individuals of European ancestry EFO_0000249 N/A decreasing risk Alzheimer's disease rs203709-A of hsa-mir-4531 and its dysfunction is significantly associated with the decreasing risk of Alzheimers disease by using genome-wide association analysis in late-onset AD including 455,258 individuals of European ancestry 0.4 A functional variant in the miR-142 promoter modulating its expression and conferring risk of Alzheimer disease. genome-wide association analysis hsa-mir-4531 miRNA Alzheimers disease 0.33 GCTCCAACCT(T > A,G)TGTAACCCAG chr19:44658298 0.4938,0.5062 0.55792877166156982,0.44207122833843017 Region score:0.24;TSS score:0.07;Unmatched score:0.11;Average GERP:0.905 GeneName:CEACAM19; CADD_score:1; Consquence:UPSTREAM; GeneID:ENSG00000186567; TranscriptID:ENST00000591979; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR4531; CADD_score:1; Consquence:UPSTREAM; GeneID:ENSG00000283673; TranscriptID:ENST00000636960; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PVR; CADD_score:2; Consquence:INTRONIC; GeneID:ENSG00000073008; TranscriptID:ENST00000425690; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC243964.2; CADD_score:2; Consquence:INTRONIC; GeneID:ENSG00000266903; TranscriptID:ENST00000590796; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CEACAM19; CADD_score:1; Consquence:UPSTREAM; GeneID:ENSG00000186567; TranscriptID:ENST00000591979; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR4531; CADD_score:1; Consquence:UPSTREAM; GeneID:ENSG00000283673; TranscriptID:ENST00000636960; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:PVR; CADD_score:2; Consquence:INTRONIC; GeneID:ENSG00000073008; TranscriptID:ENST00000425690; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC243964.2; CADD_score:2; Consquence:INTRONIC; GeneID:ENSG00000266903; TranscriptID:ENST00000590796; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004113 31038082 miR-4513 rs2168518 T N/A 100 clinically confirmed CAD patients and 100 healthy individuals EFO_0001645 N/A increasing risk coronary artery disease rs2168518-T of hsa-mir-4513 and its dysfunction is significantly associated with the increasing risk of Coronary heart disease by using two-stage association study in 100 clinically confirmed CAD patients and 100 healthy individuals 0.4 Incidence of MicroR-4513C/T Gene Variability in Coronary Artery Disease - A Case-Control Study. two-stage association study hsa-mir-4513 miRNA Coronary heart disease 0.667 GCCTCCAGCC(G > A)TCAGTCTCCC chr15: 74788737 0.7554,0.2446 0.57552083333333333,0.42447916666666666 Region score:0.44; TSS score:0.5; Unmatched score:0.72; Average GERP:-0.038679207920792144 GeneName:CSK; CADD-Score:2; Consquence:intron; GeneID:ENSG00000103653; TranscriptID:ENST00000220003; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR4513; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000264386; TranscriptID:ENST00000581077; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000079299; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000521422; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004113 25256095 miR-4513 rs2168518 A Dominant fasting glucose, low-density lipoprotein-cholesterol, total cholesterol, systolic and diastolic blood pressure, and risk of coronary artery disease EFO_0001645 N/A increasing risk coronary artery disease rs2168518-A of hsa-mir-4513 and its dysfunction is significantly associated with the increasing risk of Coronary heart disease by using case-control analysis in fasting glucose, low-density lipoprotein-cholesterol, total cholesterol, systolic and diastolic blood pressure, and risk of coronary artery disease 0.9 A genetic variant in the seed region of miR-4513 shows pleiotropic effects on lipid and glucose homeostasis, blood pressure, and coronary artery disease. case-control analysis hsa-mir-4513 miRNA Coronary heart disease 0.667 GCCTCCAGCC(G > A)TCAGTCTCCC chr15: 74788737 0.7554,0.2446 0.57552083333333333,0.42447916666666666 Region score:0.44; TSS score:0.5; Unmatched score:0.72; Average GERP:-0.038679207920792144 GeneName:CSK; CADD-Score:2; Consquence:intron; GeneID:ENSG00000103653; TranscriptID:ENST00000220003; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR4513; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000264386; TranscriptID:ENST00000581077; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000079299; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000521422; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004114 30337581 mir-4309 rs12879262 C N/A two cohorts of osteosarcoma patients (n = 100) and their corresponding controls (n = 256) from Spanish and Slovenian populations EFO_0000637 N/A increasing risk osteosarcoma rs12879262-C of hsa-mir-4309 and its dysfunction is significantly associated with the increasing risk of Osteosarcoma by using two-stage association study in two cohorts of osteosarcoma patients (n = 100) and their corresponding controls (n = 256) from Spanish and Slovenian populations 0.4 Variants in the 14q32 miRNA cluster are associated with osteosarcoma risk in the Spanish population. two-stage association study hsa-mir-4309 miRNA Osteosarcoma 0.33 GGGTCTGCGG(G > C)TTTGAAGCCC chr14:102539710 0.9155,0.08446 0.89251242354740061,0.10748757645259938 Region score:0.38;TSS score:0.63;Unmatched score:0.67;Average GERP:0.529 GeneName:MIR4309; CADD_score:5; Consquence:noncoding_change; GeneID:ENSG00000266015; TranscriptID:ENST00000582498; AnnoType:NonCodingTranscript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004115 30479191 mir-4268 rs4674470 G Dominant 179 Spanish children with B-cell precursor ALL homogeneously treated with LAL/SHOP protocols EFO_1001898 N/A increasing risk mucositis rs4674470-G of hsa-mir-4268 and its dysfunction is significantly associated with the increasing risk of mucositis by using two-stage association study in 179 Spanish children with B-cell precursor ALL homogeneously treated with LAL/SHOP protocols 0.4 Involvement of miRNA polymorphism in mucositis development in childhood acute lymphoblastic leukemia treatment. two-stage association study hsa-mir-4268 miRNA mucositis 0.33 AGATGCCCCC(C > A,G,T)AGGTGACATC chr2:219906502 0.2019,0.7981 0.21145514780835881,0.78854485219164118 Region score:0.32;TSS score:0.33;Unmatched score:0.6;Average GERP:1.445 GeneName:LINC01803; CADD_score:1; Consquence:upstream; GeneID:ENSG00000228909; TranscriptID:ENST00000438659; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR4268; CADD_score:5; Consquence:noncoding_change; GeneID:ENSG00000266518; TranscriptID:ENST00000581624; AnnoType:NonCodingTranscript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004116 30289085 miRNA-423 rs6505162 A Dominant 100 coronary artery disease patients and 117 matched healthy controls EFO_0001645 N/A increasing risk coronary artery disease rs6505162-A of hsa-mir-423 and its dysfunction is significantly associated with the increasing risk of Coronary heart disease by using two-stage association study in 100 coronary artery disease patients and 117 matched healthy controls 0.4 Potential Impact of MicroRNA-423 Gene Variability in Coronary Artery Disease. two-stage association study hsa-mir-423 miRNA Coronary heart disease 0.33 TTGCTTCCTA(A > C,T)CCCGCGCTTG chr17: 30117165 0.5022,0.4978,. 0.57055937818552497,0.42940876656472986,0.00003185524974515 Region score:0.43; TSS score:0.32; Unmatched score:0.93; Average GERP:3.269841584158416 GeneName:AC104984.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000265394; TranscriptID:ENST00000582938; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC104984.5; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000266919; TranscriptID:ENST00000586878; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3184; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284399; TranscriptID:ENST00000637796; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR423; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000283935; TranscriptID:ENST00000362201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000092957; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NSRP1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000126653; TranscriptID:ENST00000247026; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004117 30337581 mir-412 rs61992671 A N/A two cohorts of osteosarcoma patients (n = 100) and their corresponding controls (n = 256) from Spanish and Slovenian populations EFO_0000637 N/A increasing risk osteosarcoma rs61992671-A of hsa-mir-412 and its dysfunction is significantly associated with the increasing risk of Osteosarcoma by using two-stage association study in two cohorts of osteosarcoma patients (n = 100) and their corresponding controls (n = 256) from Spanish and Slovenian populations 0.4 Variants in the 14q32 miRNA cluster are associated with osteosarcoma risk in the Spanish population. two-stage association study hsa-mir-412 miRNA Osteosarcoma 0.33 CTGGTCCACT(A > G)GCCGTCCGTA chr14: 101065517 0.8109,0.1891 0.68209257135575942,0.31790742864424057 Region score:0.42; TSS score:0.35; Unmatched score:0.62; Average GERP:1.6513217821782178 GeneName:MEG9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000223403; TranscriptID:ENST00000429368; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR369; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000199025; TranscriptID:ENST00000362155; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR377; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000199015; TranscriptID:ENST00000362145; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR409; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000199107; TranscriptID:ENST00000362237; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR410; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000199092; TranscriptID:ENST00000362222; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR412; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000199012; TranscriptID:ENST00000362142; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR496; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207961; TranscriptID:ENST00000385226; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR541; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000216179; TranscriptID:ENST00000401360; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR656; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207959; TranscriptID:ENST00000385224; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004118 30479191 mir-3683 rs6977967 G recessive 179 Spanish children with B-cell precursor ALL homogeneously treated with LAL/SHOP protocols EFO_1001898 N/A increasing risk mucositis rs6977967-G of hsa-mir-3683 and its dysfunction is significantly associated with the increasing risk of mucositis by using two-stage association study in 179 Spanish children with B-cell precursor ALL homogeneously treated with LAL/SHOP protocols 0.4 Involvement of miRNA polymorphism in mucositis development in childhood acute lymphoblastic leukemia treatment. two-stage association study hsa-mir-3683 miRNA mucositis 0.33 ATCCAAGGGA(A > G)GAGATGATAC chr7:7067005 0.8111,0.1889 0.77866176095820591,0.22133823904179408 - GeneName:MIR3683; CADD_score:5; Consquence:noncoding_change; GeneID:ENSG00000266287; TranscriptID:ENST00000580847; AnnoType:NonCodingTranscript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004119 31499476 miR-34b/c rs4938723 C Dominant 563 patients and 646 controls EFO_0001645 N/A decreasing risk coronary artery disease rs4938723-C of hsa-mir-34b and its dysfunction is significantly associated with the decreasing risk of Coronary heart disease by using two-stage association study in 563 patients and 646 controls 0.4 Pri-miR-34b/c rs4938723 Polymorphism Contributes to Coronary Artery Disease Susceptibility. two-stage association study hsa-mir-34b miRNA Coronary heart disease 0.33 TTTGACCTAT(T > C)ACAGCTCTCA chr11: 111511840 0.7143,0.2857 0.67424025229357798,0.32575974770642201 Region score:0.24; TSS score:0.41; Unmatched score:0.71; Average GERP:-0.7293356435643562 GeneName:AP002008.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000254980; TranscriptID:ENST00000530283; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:BTG4; CADD-Score:2; Consquence:intron; GeneID:ENSG00000137707; TranscriptID:ENST00000356018; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:C11orf88; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000183644; TranscriptID:ENST00000332814; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR34B; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207811; TranscriptID:ENST00000385076; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR34C; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207562; TranscriptID:ENST00000384831; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004120 21793975 miR-33b Amplification amplification Dominant 48 medulloblastomas EFO_0002939 N/A increasing risk medulloblastoma Amplification-amplification of hsa-mir-33b and its dysfunction is significantly associated with the increasing risk of Medulloblastoma by using analysis of sequence variation in 48 medulloblastomas 0.4 Genetic alterations in microRNAs in medulloblastomas. analysis of sequence variation hsa-mir-33b miRNA Medulloblastoma 0.33 - - - - - - NCRV0000004121 21793975 miR-33b Deletion del Dominant 48 medulloblastomas EFO_0002939 N/A increasing risk medulloblastoma Deletion-del of hsa-mir-33b and its dysfunction is significantly associated with the increasing risk of Medulloblastoma by using analysis of sequence variation in 48 medulloblastomas 0.4 Genetic alterations in microRNAs in medulloblastomas. analysis of sequence variation hsa-mir-33b miRNA Medulloblastoma 0.33 - - - - - - NCRV0000004122 30706682 miR-323b rs56103835 ? N/A 161 patients and 162 healthy people EFO_0000305 N/A no significance for risk breast carcinoma rs56103835-? of hsa-mir-323b and its dysfunction is not significantly associated with Breast carcinoma by using two-stage association study in 161 patients and 162 healthy people -0.4 The protective role of rs56103835 against breast cancer onset in the Iranian population. two-stage association study hsa-mir-323b miRNA Breast carcinoma -0.33 TGCCACCTCA(T > A,C)GGTACTCGGA chr14: 101056219 0.7021,.,0.2979 0.79813328236493374,.,0.20186671763506625 Region score:0.4; TSS score:0.32; Unmatched score:0.56; Average GERP:0.9129702970297029 GeneName:MIR134; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207993; TranscriptID:ENST00000385258; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR154; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207978; TranscriptID:ENST00000385243; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR323B; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000208004; TranscriptID:ENST00000385269; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR381HG; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000258861; TranscriptID:ENST00000553692; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR382; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000283170; TranscriptID:ENST00000637119; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR485; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000208027; TranscriptID:ENST00000385292; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR487A; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207742; TranscriptID:ENST00000385009; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR496; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207961; TranscriptID:ENST00000385226; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR668; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000276352; TranscriptID:ENST00000611970; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000507777; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004123 31842980 miR-32 rs7041716 ? N/A 118 patients with RIF and 228 controls MP_0001728 N/A no significance for risk recurrent implantation failure rs7041716-? of hsa-mir-32 and its dysfunction is not significantly associated with Failure of embryo implantation by using two-stage association study in 118 patients with RIF and 228 controls -0.4 Associations between microRNA (miR-25, miR-32, miR-125, and miR-222) polymorphisms and recurrent implantation failure in Korean women. two-stage association study hsa-mir-32 miRNA Failure of embryo implantation -0.33 TCATCAGGAC(C > A)ACCCACCCAC chr9:109046157 0.8902,0.1098 0.91340150356778797,0.08659849643221202 Region score:0.41;TSS score:0.23;Unmatched score:0.32;Average GERP:1.695 GeneName:MIR32; CADD_score:1; Consquence:downstream; GeneID:ENSG00000207698; TranscriptID:ENST00000384965; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF00019; CADD_score:1; Consquence:upstream; GeneID:ENSG00000199331; TranscriptID:ENST00000362461; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TMEM245; CADD_score:2; Consquence:intronic; GeneID:ENSG00000106771; TranscriptID:ENST00000374586; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004124 30479191 mir-3117 rs12402181 A Dominant 179 Spanish children with B-cell precursor ALL homogeneously treated with LAL/SHOP protocols EFO_0000220 N/A increasing risk Vomiting rs12402181-A of hsa-mir-3117 and its dysfunction is significantly associated with the increasing risk of Acute lymphoblastic leukemia by using two-stage association study in 179 Spanish children with B-cell precursor ALL homogeneously treated with LAL/SHOP protocols 0.4 Involvement of miRNA polymorphism in mucositis development in childhood acute lymphoblastic leukemia treatment. two-stage association study hsa-mir-3117 miRNA Acute lymphoblastic leukemia 0.33 GGCATTATAG(G > A,T)GACTCATATA chr1:66628488 0.7077,0.2923 0.75439602446483180,0.24560397553516819 Region score:0.28;TSS score:0.22;Unmatched score:0.36;Average GERP:-1.09 GeneName:MIR3117; CADD_score:5; Consquence:NONCODING_CHANGE; GeneID:ENSG00000264720; TranscriptID:ENST00000584034; AnnoType:NonCodingTranscript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SGIP1; CADD_score:2; Consquence:INTRONIC; GeneID:ENSG00000118473; TranscriptID:ENST00000371037; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3117; CADD_score:5; Consquence:NONCODING_CHANGE; GeneID:ENSG00000264720; TranscriptID:ENST00000584034; AnnoType:NonCodingTranscript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SGIP1; CADD_score:2; Consquence:INTRONIC; GeneID:ENSG00000118473; TranscriptID:ENST00000371037; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004125 28356144 miR-30d Amplification amplification Dominant 136 cases of cervical squamous cell carcinoma tissues and matched adjacent normal ovarian epithelial tissues EFO_1000172 N/A increasing risk cervical squamous cell carcinoma Amplification-amplification of hsa-mir-30d and its dysfunction is significantly associated with the increasing risk of Cervical squamous cell carcinoma by using case-control analysis in 136 cases of cervical squamous cell carcinoma tissues and matched adjacent normal ovarian epithelial tissues 1.5 Amplification and up-regulation of MIR30D was associated with disease progression of cervical squamous cell carcinomas. case-control analysis hsa-mir-30d miRNA Cervical squamous cell carcinoma 0.777 - - - - - - NCRV0000004126 19584924 miR-30d Amplification amplification Dominant over 800 cancer cell lines EFO_0002939 N/A increasing risk medulloblastoma Amplification-amplification of hsa-mir-30d and its dysfunction is significantly associated with the increasing risk of Medulloblastoma by using analysis of sequence variation in over 800 cancer cell lines 0.9 Amplification and overexpression of Hsa-miR-30b, Hsa-miR-30d and KHDRBS3 at 8q24.22-q24.23 in medulloblastoma. analysis of sequence variation hsa-mir-30d miRNA Medulloblastoma 0.593 - - - - - - NCRV0000004127 19584924 miR-30b Amplification amplification Dominant over 800 cancer cell lines EFO_0002939 N/A increasing risk medulloblastoma Amplification-amplification of hsa-mir-30b and its dysfunction is significantly associated with the increasing risk of Medulloblastoma by using analysis of sequence variation in over 800 cancer cell lines 0.9 Amplification and overexpression of Hsa-miR-30b, Hsa-miR-30d and KHDRBS3 at 8q24.22-q24.23 in medulloblastoma. analysis of sequence variation hsa-mir-30b miRNA Medulloblastoma 0.593 - - - - - - NCRV0000004128 30684755 miR-30a rs111456995 ? N/A 180 workers with more than 8 years omethoate-exposure and 115 healthy controls EFO_0004505 N/A no significance for risk telomere length rs111456995-? of hsa-mir-30a and its dysfunction is not significantly associated with Telomere length by using two-stage association study in 180 workers with more than 8 years omethoate-exposure and 115 healthy controls -0.4 Association of genetic polymorphisms of miR-145 gene with telomere length in omethoate-exposed workers. two-stage association study hsa-mir-30a miRNA Telomere length -0.33 TTTTAAAAAA(insT)AATAAAAATA chr6:71403289 0.4081,0.5919 0.44845820591233435,0.55154179408766564 - - NCRV0000004129 30684755 miR-30a rs2222722 ? N/A 180 workers with more than 8 years omethoate-exposure and 115 healthy controls EFO_0004505 N/A no significance for risk telomere length rs2222722-? of hsa-mir-30a and its dysfunction is not significantly associated with Telomere length by using two-stage association study in 180 workers with more than 8 years omethoate-exposure and 115 healthy controls -0.4 Association of genetic polymorphisms of miR-145 gene with telomere length in omethoate-exposed workers. two-stage association study hsa-mir-30a miRNA Telomere length -0.33 CTTAACAGCG(G > A)TAAAGCGTAC chr6:71404009 0.6286,0.3714 0.69916698521916411,0.30083301478083588 Region score:0.23;TSS score:0.36;Unmatched score:0.65;Average GERP:1.9765 GeneName:MIR30A; CADD_score:1; Consquence:upstream; GeneID:ENSG00000207827; TranscriptID:ENST00000385092; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD_score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000795304; AnnoType:RegulatoryFeature; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LINC00472; CADD_score:2; Consquence:intronic; GeneID:ENSG00000233237; TranscriptID:ENST00000413945; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AL136164.2; CADD_score:2; Consquence:intronic; GeneID:ENSG00000269966; TranscriptID:ENST00000602823; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004130 30684755 miR-30a rs763354 ? N/A 180 workers with more than 8 years omethoate-exposure and 115 healthy controls EFO_0004505 N/A no significance for risk telomere length rs763354-? of hsa-mir-30a and its dysfunction is not significantly associated with Telomere length by using two-stage association study in 180 workers with more than 8 years omethoate-exposure and 115 healthy controls -0.4 Association of genetic polymorphisms of miR-145 gene with telomere length in omethoate-exposed workers. two-stage association study hsa-mir-30a miRNA Telomere length -0.33 AGAATAAGAT(C > T)CAATTGTGTT chr6: 71405918 0.8141,0.1859 0.88050299439347604,0.11949700560652395 Region score:0.3; TSS score:0.26; Unmatched score:0.36; Average GERP:-0.17080198019801984 GeneName:AL136164.2; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000269966; TranscriptID:ENST00000602823; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LINC00472; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000233237; TranscriptID:ENST00000413945; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR30A; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207827; TranscriptID:ENST00000385092; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004131 30337581 mir-300 rs12894467 T N/A two cohorts of osteosarcoma patients (n = 100) and their corresponding controls (n = 256) from Spanish and Slovenian populations EFO_0000637 N/A increasing risk osteosarcoma rs12894467-T of hsa-mir-300 and its dysfunction is significantly associated with the increasing risk of Osteosarcoma by using two-stage association study in two cohorts of osteosarcoma patients (n = 100) and their corresponding controls (n = 256) from Spanish and Slovenian populations 0.4 Variants in the 14q32 miRNA cluster are associated with osteosarcoma risk in the Spanish population. two-stage association study hsa-mir-300 miRNA Osteosarcoma 0.33 TAATCCTTCA(C > T)GCATTTGCTT chr14: 101041390 0.3974,0.6026 0.49088939857288481,0.50911060142711518 Region score:0.52; TSS score:0.21; Unmatched score:0.52; Average GERP:-0.08899801980198017 GeneName:MEG8; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000225746; TranscriptID:ENST00000636391; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR1185-1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000221525; TranscriptID:ENST00000408598; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR1185-2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000221614; TranscriptID:ENST00000408687; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR300; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000215957; TranscriptID:ENST00000401138; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR376A1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000283588; TranscriptID:ENST00000616574; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR376A2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000283561; TranscriptID:ENST00000636782; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR376B; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000283556; TranscriptID:ENST00000614515; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR376C; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000283279; TranscriptID:ENST00000607441; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR381; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000199020; TranscriptID:ENST00000362150; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR381HG; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000258861; TranscriptID:ENST00000553692; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR654; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207934; TranscriptID:ENST00000385199; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004132 30599464 microRNA-27a rs895819 ? N/A 110 cerebral malaria and 207 uncomplicated malaria cases EFO_0006857 N/A no significance for risk cerebral malaria rs895819-? of hsa-mir-27a and its dysfunction is not significantly associated with Cerebral malaria by using two-stage association study in 110 cerebral malaria and 207 uncomplicated malaria cases -0.4 microRNA-27a and microRNA-146a SNP in cerebral malaria. two-stage association study hsa-mir-27a miRNA Cerebral malaria -0.33 CACGACTTGG(T > C)GTGGACCCTG chr19: 13836478 0.6362,0.3638 0.63091711264016309,0.36908288735983690 Region score:0.57; TSS score:0.41; Unmatched score:0.75; Average GERP:2.158386138613861 GeneName:AC020916.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000267519; TranscriptID:ENST00000587762; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR23A; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207980; TranscriptID:ENST00000385245; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR24-2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284387; TranscriptID:ENST00000386972; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR27A; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207808; TranscriptID:ENST00000385073; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000107447; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ZSWIM4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000132003; TranscriptID:ENST00000254323; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004133 31669639 microRNA-27a rs895819 ? N/A N/A EFO_0003897 N/A no significance for risk stomach neoplasm rs895819-? of hsa-mir-27a and its dysfunction is not significantly associated with Stomach neoplasm by using meta-analysis in nan -0.4 Associated of rs895819 with risk of stomach neoplasms. meta-analysis hsa-mir-27a miRNA Stomach neoplasm -0.33 CACGACTTGG(T > C)GTGGACCCTG chr19: 13836478 0.6362,0.3638 0.63091711264016309,0.36908288735983690 Region score:0.57; TSS score:0.41; Unmatched score:0.75; Average GERP:2.158386138613861 GeneName:AC020916.1; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000267519; TranscriptID:ENST00000587762; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR23A; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207980; TranscriptID:ENST00000385245; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR24-2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284387; TranscriptID:ENST00000386972; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR27A; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207808; TranscriptID:ENST00000385073; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000107447; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ZSWIM4; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000132003; TranscriptID:ENST00000254323; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004134 31876746 miR-26a rs7372209 T N/A 156 PCa cases and 188 control subjects EFO_0001663 N/A no significance for risk prostate carcinoma rs7372209-T of hsa-mir-26a-1 and its dysfunction is not significantly associated with Prostate carcinoma by using two-stage association study in 156 PCa cases and 188 control subjects -0.4 Association of Hsa-miR-23a rs3745453 variation with prostate cancer risk among Chinese Han population: A case-control study. two-stage association study hsa-mir-26a-1 miRNA Prostate carcinoma -0.33 ATTAATCCTT(T > C)GTACCACGTG chr3: 37969217 0.2015,0.7985 0.21918800968399592,0.78081199031600407 Region score:0.25; TSS score:0.19; Unmatched score:0.58; Average GERP:0.42166831683168315 GeneName:CTDSPL; CADD-Score:2; Consquence:intron; GeneID:ENSG00000144677; TranscriptID:ENST00000273179; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR26A1; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000199075; TranscriptID:ENST00000362205; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000682913; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004135 31842980 miR-25 rs1527423 ? N/A 118 patients with RIF and 228 controls MP_0001728 N/A no significance for risk recurrent implantation failure rs1527423-? of hsa-mir-25 and its dysfunction is not significantly associated with Failure of embryo implantation by using two-stage association study in 118 patients with RIF and 228 controls -0.4 Associations between microRNA (miR-25, miR-32, miR-125, and miR-222) polymorphisms and recurrent implantation failure in Korean women. two-stage association study hsa-mir-25 miRNA Failure of embryo implantation -0.33 GCACGGTAAG(G > A,C)GAGCTACCCC chr7:100094117 0.4631,0.5369 0.52430555555555555,0.47569444444444444 Region score:0.35;TSS score:0.19;Unmatched score:0.53;Average GERP:2.2855 GeneName:COPS6; CADD_score:1; Consquence:DOWNSTREAM; GeneID:ENSG00000168090; TranscriptID:ENST00000303904; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR25; CADD_score:1; Consquence:UPSTREAM; GeneID:ENSG00000207547; TranscriptID:ENST00000384816; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR93; CADD_score:1; Consquence:UPSTREAM; GeneID:ENSG00000207757; TranscriptID:ENST00000385024; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR106B; CADD_score:1; Consquence:UPSTREAM; GeneID:ENSG00000208036; TranscriptID:ENST00000385301; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MCM7; CADD_score:2; Consquence:INTRONIC; GeneID:ENSG00000166508; TranscriptID:ENST00000303887; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:COPS6; CADD_score:1; Consquence:DOWNSTREAM; GeneID:ENSG00000168090; TranscriptID:ENST00000303904; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR25; CADD_score:1; Consquence:UPSTREAM; GeneID:ENSG00000207547; TranscriptID:ENST00000384816; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR93; CADD_score:1; Consquence:UPSTREAM; GeneID:ENSG00000207757; TranscriptID:ENST00000385024; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR106B; CADD_score:1; Consquence:UPSTREAM; GeneID:ENSG00000208036; TranscriptID:ENST00000385301; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MCM7; CADD_score:2; Consquence:INTRONIC; GeneID:ENSG00000166508; TranscriptID:ENST00000303887; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004136 30684755 miR-25 rs1527423 ? N/A 180 workers with more than 8 years omethoate-exposure and 115 healthy controls EFO_0004505 N/A no significance for risk telomere length rs1527423-? of hsa-mir-25 and its dysfunction is not significantly associated with Telomere length by using two-stage association study in 180 workers with more than 8 years omethoate-exposure and 115 healthy controls -0.4 Association of genetic polymorphisms of miR-145 gene with telomere length in omethoate-exposed workers. two-stage association study hsa-mir-25 miRNA Telomere length -0.33 GCACGGTAAG(G > A,C)GAGCTACCCC chr7:100094117 0.4631,0.5369 0.52430555555555555,0.47569444444444444 Region score:0.35;TSS score:0.19;Unmatched score:0.53;Average GERP:2.2855 GeneName:COPS6; CADD_score:1; Consquence:DOWNSTREAM; GeneID:ENSG00000168090; TranscriptID:ENST00000303904; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR25; CADD_score:1; Consquence:UPSTREAM; GeneID:ENSG00000207547; TranscriptID:ENST00000384816; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR93; CADD_score:1; Consquence:UPSTREAM; GeneID:ENSG00000207757; TranscriptID:ENST00000385024; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR106B; CADD_score:1; Consquence:UPSTREAM; GeneID:ENSG00000208036; TranscriptID:ENST00000385301; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MCM7; CADD_score:2; Consquence:INTRONIC; GeneID:ENSG00000166508; TranscriptID:ENST00000303887; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:COPS6; CADD_score:1; Consquence:DOWNSTREAM; GeneID:ENSG00000168090; TranscriptID:ENST00000303904; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR25; CADD_score:1; Consquence:UPSTREAM; GeneID:ENSG00000207547; TranscriptID:ENST00000384816; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR93; CADD_score:1; Consquence:UPSTREAM; GeneID:ENSG00000207757; TranscriptID:ENST00000385024; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR106B; CADD_score:1; Consquence:UPSTREAM; GeneID:ENSG00000208036; TranscriptID:ENST00000385301; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MCM7; CADD_score:2; Consquence:INTRONIC; GeneID:ENSG00000166508; TranscriptID:ENST00000303887; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004137 31876746 miR-23a rs3745453 C recessive 156 PCa cases and 188 control subjects EFO_0001663 N/A increased risk and poor prognosis prostate carcinoma rs3745453-C of hsa-mir-23a and its dysfunction is significantly associated with the increasing risk and poor prognosis of Prostate carcinoma by using two-stage association study in 156 PCa cases and 188 control subjects 0.4 Association of Hsa-miR-23a rs3745453 variation with prostate cancer risk among Chinese Han population: A case-control study. two-stage association study hsa-mir-23a miRNA Prostate carcinoma 0.33 CAGAAATCGA(A > G)CCCTCTAAGT chr19:13831407 0.6587,0.3413 0.65279370540265035,0.34720629459734964 Region score:0.29;TSS score:0.78;Unmatched score:0.78;Average GERP:2.805 GeneName:MIR24-2; CADD_score:1; Consquence:downstream; GeneID:ENSG00000284387; TranscriptID:ENST00000386972; AnnoType:Intergenic; mirSVR-Score:-0.7391; mirSVR-E:-22.04 | GeneName:AC020916.1; CADD_score:5; Consquence:noncoding_change; GeneID:ENSG00000267519; TranscriptID:ENST00000587762; AnnoType:NonCodingTranscript; mirSVR-Score:-0.7391; mirSVR-E:-22.04 | GeneName:ZSWIM4; CADD_score:2; Consquence:3prime_utr; GeneID:ENSG00000132003; TranscriptID:ENST00000254323; AnnoType:Transcript; mirSVR-Score:-0.7391; mirSVR-E:-22.04 | NCRV0000004138 31842980 miR-222 rs34678647 ? N/A 118 patients with RIF and 228 controls MP_0001728 N/A no significance for risk recurrent implantation failure rs34678647-? of hsa-mir-222 and its dysfunction is not significantly associated with Failure of embryo implantation by using two-stage association study in 118 patients with RIF and 228 controls -0.4 Associations between microRNA (miR-25, miR-32, miR-125, and miR-222) polymorphisms and recurrent implantation failure in Korean women. two-stage association study hsa-mir-222 miRNA Failure of embryo implantation -0.33 TTAAATAAAG(G > A,T)TGCCACATAT chrX:45747310 0.8577,.,0.1423 0.90031695973496432,0.00000796381243628,0.09967507645259938 Region score:0.29;TSS score:0.19;Unmatched score:0.27;Average GERP:0.455 GeneName:MIR222; CADD_score:1; Consquence:UPSTREAM; GeneID:ENSG00000207725; TranscriptID:ENST00000384992; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR221; CADD_score:1; Consquence:UPSTREAM; GeneID:ENSG00000207870; TranscriptID:ENST00000385135; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR222HG; CADD_score:2; Consquence:INTRONIC; GeneID:ENSG00000270069; TranscriptID:ENST00000602461; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR222; CADD_score:1; Consquence:UPSTREAM; GeneID:ENSG00000207725; TranscriptID:ENST00000384992; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR221; CADD_score:1; Consquence:UPSTREAM; GeneID:ENSG00000207870; TranscriptID:ENST00000385135; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR222HG; CADD_score:2; Consquence:INTRONIC; GeneID:ENSG00000270069; TranscriptID:ENST00000602461; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004139 30983504 miR-222 rs75246947 A Dominant 115 GIST cases and 88 healthy controls Orphanet_44890 N/A increased risk and poor prognosis Gastrointestinal stromal tumor rs75246947-A of hsa-mir-222 and its dysfunction is significantly associated with the increasing risk and poor prognosis of Gastrointestinal stromal tumor by using two-stage association study in 115 GIST cases and 88 healthy controls 0.4 The rs17084733 variant in the KIT 3' UTR disrupts a miR-221/222 binding site in gastrointestinal stromal tumour: a sponge-like mechanism conferring disease susceptibility. two-stage association study hsa-mir-222 miRNA Gastrointestinal stromal tumor 0.33 GTGAGTGTGT(T > A)GTGTGAGTGT chrX:45746901 0 0 Region score:0.45;TSS score:0.28;Unmatched score:0.18;Average GERP:0.502 GeneName:MIR222; CADD_score:1; Consquence:downstream; GeneID:ENSG00000207725; TranscriptID:ENST00000384992; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR221; CADD_score:1; Consquence:upstream; GeneID:ENSG00000207870; TranscriptID:ENST00000385135; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR222HG; CADD_score:2; Consquence:intronic; GeneID:ENSG00000270069; TranscriptID:ENST00000602461; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004140 30684755 miR-210 rs7935908 ? N/A 180 workers with more than 8 years omethoate-exposure and 115 healthy controls EFO_0004505 N/A no significance for risk telomere length rs7935908-? of hsa-mir-210 and its dysfunction is not significantly associated with Telomere length by using two-stage association study in 180 workers with more than 8 years omethoate-exposure and 115 healthy controls -0.4 Association of genetic polymorphisms of miR-145 gene with telomere length in omethoate-exposed workers. two-stage association study hsa-mir-210 miRNA Telomere length -0.33 GAGAAGGCAG(G > A,C,T)GCTCAGCAGA chr11:567630 0.5016,0.4984 0.50739838175331294,0.49260161824668705 Region score:0.16;TSS score:0.22;Unmatched score:0.83;Average GERP:0.2 GeneName:RASSF7; CADD_score:1; Consquence:downstream; GeneID:ENSG00000099849; TranscriptID:ENST00000397583; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR210; CADD_score:1; Consquence:downstream; GeneID:ENSG00000199038; TranscriptID:ENST00000362168; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD_score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000035653; AnnoType:RegulatoryFeature; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR210HG; CADD_score:2; Consquence:intronic; GeneID:ENSG00000247095; TranscriptID:ENST00000500447; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004141 30684755 miR-210 rs7395206 ? N/A 180 workers with more than 8 years omethoate-exposure and 115 healthy controls EFO_0004505 N/A no significance for risk telomere length rs7395206-? of hsa-mir-210 and its dysfunction is not significantly associated with Telomere length by using two-stage association study in 180 workers with more than 8 years omethoate-exposure and 115 healthy controls -0.4 Association of genetic polymorphisms of miR-145 gene with telomere length in omethoate-exposed workers. two-stage association study hsa-mir-210 miRNA Telomere length -0.33 CGGGCGGAGG(G > A,C,T)GATTGACCCC chr11:568211 0.5172,0.4828 0.52999171763506625,0.47000828236493374 Region score:0.48;TSS score:0.4;Unmatched score:0.92;Average GERP:1.21 GeneName:RASSF7; CADD_score:1; Consquence:downstream; GeneID:ENSG00000099849; TranscriptID:ENST00000397583; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR210; CADD_score:1; Consquence:upstream; GeneID:ENSG00000199038; TranscriptID:ENST00000362168; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD_score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000035653; AnnoType:RegulatoryFeature; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD_score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000421021; AnnoType:RegulatoryFeature; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR210HG; CADD_score:2; Consquence:intronic; GeneID:ENSG00000247095; TranscriptID:ENST00000500447; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004142 30684755 miR-210 rs11246190 ? N/A 180 workers with more than 8 years omethoate-exposure and 115 healthy controls EFO_0004505 N/A no significance for risk telomere length rs11246190-? of hsa-mir-210 and its dysfunction is not significantly associated with Telomere length by using two-stage association study in 180 workers with more than 8 years omethoate-exposure and 115 healthy controls -0.4 Association of genetic polymorphisms of miR-145 gene with telomere length in omethoate-exposed workers. two-stage association study hsa-mir-210 miRNA Telomere length -0.33 CCCGGCGGCA(A > C,G,T)AAGTGCTGGG chr11:569591 0.1166,0.8834 0.10747164882772680,0.89252835117227319 Region score:0.38;TSS score:0.54;Unmatched score:0.85;Average GERP:-0.88 GeneName:MIR210; CADD_score:1; Consquence:upstream; GeneID:ENSG00000199038; TranscriptID:ENST00000362168; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR210HG; CADD_score:1; Consquence:upstream; GeneID:ENSG00000247095; TranscriptID:ENST00000500447; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD_score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000035653; AnnoType:RegulatoryFeature; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004143 30684755 miR-210 rs12364149 ? N/A 180 workers with more than 8 years omethoate-exposure and 115 healthy controls EFO_0004505 N/A no significance for risk telomere length rs12364149-? of hsa-mir-210 and its dysfunction is not significantly associated with Telomere length by using two-stage association study in 180 workers with more than 8 years omethoate-exposure and 115 healthy controls -0.4 Association of genetic polymorphisms of miR-145 gene with telomere length in omethoate-exposed workers. two-stage association study hsa-mir-210 miRNA Telomere length -0.33 CGATAGAACC(C > G,T)GAGTGGCTCC chr11:569753 0.8888,0.1112,. 0.90192564984709480,0.09807435015290519,. Region score:0.34;TSS score:0.68;Unmatched score:0.78;Average GERP:0.255 GeneName:MIR210; CADD_score:1; Consquence:UPSTREAM; GeneID:ENSG00000199038; TranscriptID:ENST00000362168; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR210HG; CADD_score:1; Consquence:UPSTREAM; GeneID:ENSG00000247095; TranscriptID:ENST00000500447; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD_score:4; Consquence:REGULATORY; GeneID:NA; TranscriptID:ENSR00000035653; AnnoType:RegulatoryFeature; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR210; CADD_score:1; Consquence:UPSTREAM; GeneID:ENSG00000199038; TranscriptID:ENST00000362168; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR210HG; CADD_score:1; Consquence:UPSTREAM; GeneID:ENSG00000247095; TranscriptID:ENST00000500447; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD_score:4; Consquence:REGULATORY; GeneID:NA; TranscriptID:ENSR00000035653; AnnoType:RegulatoryFeature; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004144 31876746 miR-200a rs9660710 C N/A 156 PCa cases and 188 control subjects EFO_0001663 N/A no significance for risk prostate carcinoma rs9660710-C of hsa-mir-200a and its dysfunction is not significantly associated with Prostate carcinoma by using two-stage association study in 156 PCa cases and 188 control subjects -0.4 Association of Hsa-miR-23a rs3745453 variation with prostate cancer risk among Chinese Han population: A case-control study. two-stage association study hsa-mir-200a miRNA Prostate carcinoma -0.33 GTCTCTCGTG(A > C,T)GGTTTTTTAC chr1: 1163962 0.1701,0.8299,. 0.12792271916411824,0.86937754841997961,0.00269973241590214 Region score:0.36; TSS score:0.46; Unmatched score:0.44; Average GERP:-1.8039633663366341 GeneName:MIR200A; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207607; TranscriptID:ENST00000384875; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR200B; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207730; TranscriptID:ENST00000384997; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000344515; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004145 30684755 miR-197 rs1889470 ? N/A 180 workers with more than 8 years omethoate-exposure and 115 healthy controls EFO_0004505 N/A no significance for risk telomere length rs1889470-? of hsa-mir-197 and its dysfunction is not significantly associated with Telomere length by using two-stage association study in 180 workers with more than 8 years omethoate-exposure and 115 healthy controls -0.4 Association of genetic polymorphisms of miR-145 gene with telomere length in omethoate-exposed workers. two-stage association study hsa-mir-197 miRNA Telomere length -0.33 CAGAAATGTT(T > A,C,G)TTCATGCTTT chr1:109598799 0.6544,0.3456 0.71100121049949031,0.28899878950050968 Region score:0.55;TSS score:0.33;Unmatched score:0.5;Average GERP:3.26 GeneName:GNAT2; CADD_score:1; Consquence:downstream; GeneID:ENSG00000134183; TranscriptID:ENST00000351050; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AL355310.1; CADD_score:1; Consquence:downstream; GeneID:ENSG00000225113; TranscriptID:ENST00000436416; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR197; CADD_score:1; Consquence:upstream; GeneID:ENSG00000284443; TranscriptID:ENST00000384976; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD_score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000368243; AnnoType:RegulatoryFeature; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GNAI3; CADD_score:2; Consquence:3prime_utr; GeneID:ENSG00000065135; TranscriptID:ENST00000369851; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004146 24978643 MIR196A2 rs11614913 C recessive 350 ESRD patients and 350 age-matched, sex-matched, and ethnically matched controls. EFO_0003884 N/A increasing risk chronic kidney disease rs11614913-C of hsa-mir-196a-2 and its dysfunction is significantly associated with the increasing risk of Chronic kidney disease by using case-control analysis in 350 ESRD patients and 350 age-matched, sex-matched, and ethnically matched controls. 0.4 Genetic variants of MicroRNA-related genes in susceptibility and prognosis of end-stage renal disease and renal allograft outcome among north Indians. case-control analysis hsa-mir-196a-2 miRNA Chronic kidney disease 0.33 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004147 24447667 miR-196a2 rs11614913 T N/A 295 coronary artery disease patients and 283 controls in a Chinese population EFO_0001645 N/A no significance for risk coronary artery disease rs11614913-T of hsa-mir-196a-2 and its dysfunction is not significantly associated with Coronary heart disease by using case-control analysis in 295 coronary artery disease patients and 283 controls in a Chinese population -0.4 A common variant in pre-miR-146 is associated with coronary artery disease risk and its mature miRNA expression. case-control analysis hsa-mir-196a-2 miRNA Coronary heart disease 0 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004147 22159951 mir-196a2 rs11614913 C Dominant 956 CAD patients diagnosed by coronary arterial angiography and 620 controls EFO_0001645 N/A poor prognosis coronary artery disease rs11614913-C of hsa-mir-196a-2 and its dysfunction is significantly associated with the poor prognosis of Coronary heart disease by using case-control analysis in 956 CAD patients diagnosed by coronary arterial angiography and 620 controls 0.4 Polymorphisms of miRNAs genes are associated with the risk and prognosis of coronary artery disease. case-control analysis hsa-mir-196a-2 miRNA Coronary heart disease 0 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004148 31053729 MIR196A2 rs11614913 T Dominant Iceland discovery population锛?1,277 subjects of European and East Asian descent for replication EFO_0002506 N/A Associate osteoarthritis rs11614913-T of hsa-mir-196a-2 and its dysfunction is significantly associated with Osteoarthritis by using genome-wide association analysis in Iceland discovery population锛?1,277 subjects of European and East Asian descent for replication 1.4 GWAS of bone size yields twelve loci that also affect height, BMD, osteoarthritis or fractures. genome-wide association analysis hsa-mir-196a-2 miRNA Osteoarthritis 0.753 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004149 31053729 MIR196A2 rs11614913 T Dominant Iceland discovery population锛?1,277 subjects of European and East Asian descent for replication EFO_0003964 N/A increasing risk hip fracture rs11614913-T of hsa-mir-196a-2 and its dysfunction is significantly associated with the increasing risk of hip fracture by using genome-wide association analysis in Iceland discovery population锛?1,277 subjects of European and East Asian descent for replication 1.4 GWAS of bone size yields twelve loci that also affect height, BMD, osteoarthritis or fractures. genome-wide association analysis hsa-mir-196a-2 miRNA hip fracture 0.753 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004150 31053729 MIR196A2 rs11614913 T Dominant Iceland discovery population锛?1,277 subjects of European and East Asian descent for replication EFO_0003902 N/A increasing risk spinal fracture rs11614913-T of hsa-mir-196a-2 and its dysfunction is significantly associated with the increasing risk of spinal fracture by using genome-wide association analysis in Iceland discovery population锛?1,277 subjects of European and East Asian descent for replication 1.4 GWAS of bone size yields twelve loci that also affect height, BMD, osteoarthritis or fractures. genome-wide association analysis hsa-mir-196a-2 miRNA spinal fracture 0.753 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004151 30904593 miR-196a-2 rs11614913 ? N/A 75 patients and 75 controls MONDO_0008170 N/A no significance for risk ovarian cancer rs11614913-? of hsa-mir-196a-2 and its dysfunction is not significantly associated with Ovarian cancer by using two-stage association study in 75 patients and 75 controls -0.4 Identification of miR-146a and miR-196a-2 single nucleotide polymorphisms at patients with high-grade serous ovarian cancer. two-stage association study hsa-mir-196a-2 miRNA Ovarian cancer -0.33 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004152 31219360 miR-196a2 rs11614913 ? N/A 380 PTB patients, 242 EPTB patients, and 606 healthy control (HC) subjects from a Chinese Han population Orphanet_3389 N/A no significance for risk Tuberculosis rs11614913-? of hsa-mir-196a-2 and its dysfunction is not significantly associated with Tuberculosis by using two-stage association study in 380 PTB patients, 242 EPTB patients, and 606 healthy control (HC) subjects from a Chinese Han population -0.4 Genetic Polymorphisms of miR-149 Associated with Susceptibility to Both Pulmonary and Extrapulmonary Tuberculosis. two-stage association study hsa-mir-196a-2 miRNA Tuberculosis -0.33 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004153 30872409 miR-196a2 rs11614913 T Dominant Three hundred samples EFO_0001061 N/A decreasing risk cervical carcinoma rs11614913-T of hsa-mir-196a-2 and its dysfunction is significantly associated with the decreasing risk of Cervical carcinoma by using two-stage association study in Three hundred samples 0.4 Impacts of single nucleotide polymorphisms in three microRNAs (miR-146a, miR-196a2 and miR-499) on the susceptibility to cervical cancer among Indian women. two-stage association study hsa-mir-196a-2 miRNA Cervical carcinoma 0.33 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004154 31472066 miR-196a2 rs11614913 T N/A 150 patients and 150 healthy subjects EFO_0001359 N/A increasing risk type I diabetes mellitus rs11614913-T of hsa-mir-196a-2 and its dysfunction is significantly associated with the increasing risk of Type i diabetes mellitus by using two-stage association study in 150 patients and 150 healthy subjects 0.4 Micro-RNA 196a2 expression and miR-196a2 (rs11614913) polymorphism in T1DM: a pilot study. two-stage association study hsa-mir-196a-2 miRNA Type i diabetes mellitus 0.33 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004155 31099778 MIR196A2 rs11614913 ? N/A 110 patients with PPMS锛?564 patients with RRMS and 424 healthy volunteers EFO_0003885 N/A no significance for risk multiple sclerosis rs11614913-? of hsa-mir-196a-2 and its dysfunction is not significantly associated with Multiple sclerosis by using two-stage association study in 110 patients with PPMS锛?564 patients with RRMS and 424 healthy volunteers -0.4 [Variability of the MIR196A2 Gene as a Risk Factor in Primary-Progressive Multiple Sclerosis Development]. two-stage association study hsa-mir-196a-2 miRNA Multiple sclerosis -0.451 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004155 30518189 mir196a2 rs11614913 ? N/A 80 patients and the same number control EFO_0003885 N/A no significance for risk multiple sclerosis rs11614913-? of hsa-mir-196a-2 and its dysfunction is not significantly associated with Multiple sclerosis by using two-stage association study in 80 patients and the same number control -0.4 Genetic Variation in Intergenic and Exonic miRNA Sequence and Risk of Multiple Sclerosis in the Isfahan Patients. two-stage association study hsa-mir-196a-2 miRNA Multiple sclerosis -0.451 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004156 30637557 miR-196a2 rs11614913 ? N/A 300 control individuals and 203 VTE patients EFO_0004286 N/A no significance for risk venous thromboembolism rs11614913-? of hsa-mir-196a-2 and its dysfunction is not significantly associated with Venous thromboembolism by using two-stage association study in 300 control individuals and 203 VTE patients -0.4 Association study of miR-146a, miR-149, miR-196a2, and miR-499 polymorphisms with venous thromboembolism in a Korean population. two-stage association study hsa-mir-196a-2 miRNA Venous thromboembolism -0.33 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004157 31151930 pre-miR-196a-2 rs11614913 ? N/A 90 individuals from the OBB matched for age, sex and BMI EFO_0001073 N/A increasing risk obesity rs11614913-? of hsa-mir-196-2 and its dysfunction is significantly associated with the increasing risk of Obesity by using two-stage association study in 90 individuals from the OBB matched for age, sex and BMI 0.4 MicroRNA-196a links human body fat distribution to adipose tissue extracellular matrix composition. two-stage association study hsa-mir-196-2 miRNA Obesity 0.33 CAAGAAACTG(C > T)CTGAGTTACA chr12: 53991815 0.6673,0.3327 0.65216456422018348,0.34783543577981651 Region score:0.73; TSS score:0.77; Unmatched score:0.94; Average GERP:3.400807920792078 GeneName:AC012531.3; CADD-Score:2; Consquence:intron; GeneID:ENSG00000273049; TranscriptID:ENST00000513209; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC10; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000180818; TranscriptID:ENST00000303460; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC6; CADD-Score:2; Consquence:intron; GeneID:ENSG00000197757; TranscriptID:ENST00000504315; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC9; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000180806; TranscriptID:ENST00000508190; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC-AS2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000250133; TranscriptID:ENST00000604081; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR196A2; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000207924; TranscriptID:ENST00000385189; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004158 21793975 miR-186 Deletion del Dominant 48 medulloblastomas EFO_0002939 N/A increasing risk medulloblastoma Deletion-del of hsa-mir-186 and its dysfunction is significantly associated with the increasing risk of Medulloblastoma by using analysis of sequence variation in 48 medulloblastomas 0.4 Genetic alterations in microRNAs in medulloblastomas. analysis of sequence variation hsa-mir-186 miRNA Medulloblastoma 0.33 - - - - - - NCRV0000004159 25103824 hsa-mir-182 chr7:129197463 T Dominant 453 early-stage and 526 late-stage NSCLC cases in a Caucasian population EFO_0003060 N/A increasing risk non-small cell lung carcinoma chr7: 129197463-T of hsa-mir-182 and its dysfunction is significantly associated with the increasing risk of Non-small cell lung carcinoma by using case-control analysis in 453 early-stage and 526 late-stage NSCLC cases in a Caucasian population 0.4 Polymorphisms in MicroRNAs are associated with survival in non-small cell lung cancer. case-control analysis hsa-mir-182 miRNA Non-small cell lung carcinoma 0.33 - - - - - - NCRV0000004160 30518189 mir155 rs767649 ? N/A 80 patients and the same number control EFO_0003885 N/A no significance for risk multiple sclerosis rs767649-? of hsa-mir-155 and its dysfunction is not significantly associated with Multiple sclerosis by using two-stage association study in 80 patients and the same number control -0.4 Genetic Variation in Intergenic and Exonic miRNA Sequence and Risk of Multiple Sclerosis in the Isfahan Patients. two-stage association study hsa-mir-155 miRNA Multiple sclerosis -0.33 AAAAACACTG(T > A)CACTTTTCTG chr21: 25572410 0.852,0.148 0.91390322375127420,0.08609677624872579 Region score:0.3; TSS score:0.43; Unmatched score:0.61; Average GERP:0.280691089108911 GeneName:MIR155; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000283904; TranscriptID:ENST00000385060; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR155HG; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000234883; TranscriptID:ENST00000456917; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004161 31009294 miR-155 rs767649 ? N/A 79 patients with RA (group I) and 78 healthy control participants EFO_0000685 N/A increasing risk rheumatoid arthritis rs767649-? of hsa-mir-155 and its dysfunction is significantly associated with the increasing risk of Rheumatoid arthritis by using two-stage association study in 79 patients with RA (group I) and 78 healthy control participants 0.4 Association Between miR-155, Its Polymorphism and Ischemia-Modified Albumin in Patients with Rheumatoid Arthritis. two-stage association study hsa-mir-155 miRNA Rheumatoid arthritis 0.33 AAAAACACTG(T > A)CACTTTTCTG chr21: 25572410 0.852,0.148 0.91390322375127420,0.08609677624872579 Region score:0.3; TSS score:0.43; Unmatched score:0.61; Average GERP:0.280691089108911 GeneName:MIR155; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000283904; TranscriptID:ENST00000385060; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR155HG; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000234883; TranscriptID:ENST00000456917; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004162 31219360 miR-149 rs2292832 C N/A 380 PTB patients, 242 EPTB patients, and 606 healthy control (HC) subjects from a Chinese Han population Orphanet_3389 N/A increasing risk Tuberculosis rs2292832-C of hsa-mir-149 and its dysfunction is significantly associated with the increasing risk of Tuberculosis by using two-stage association study in 380 PTB patients, 242 EPTB patients, and 606 healthy control (HC) subjects from a Chinese Han population 0.4 Genetic Polymorphisms of miR-149 Associated with Susceptibility to Both Pulmonary and Extrapulmonary Tuberculosis. two-stage association study hsa-mir-149 miRNA Tuberculosis 0.33 CTGGGGCAGC(T > A,C)GGAACAACGC chr2: 240456086 0.3866,.,0.6134 0.31987449031600407,0.00025484199796126,0.67987066768603465 Region score:0.3; TSS score:0.39; Unmatched score:0.89; Average GERP:1.5002722772277222 GeneName:AC110619.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000218416; TranscriptID:ENST00000404891; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GPC1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000063660; TranscriptID:ENST00000264039; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR149; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207611; TranscriptID:ENST00000384879; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000133146; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004163 31219360 miR-149 rs71428439 A N/A 380 PTB patients, 242 EPTB patients, and 606 healthy control (HC) subjects from a Chinese Han population Orphanet_3389 N/A decreasing risk Tuberculosis rs71428439-A of hsa-mir-149 and its dysfunction is significantly associated with the decreasing risk of Tuberculosis by using two-stage association study in 380 PTB patients, 242 EPTB patients, and 606 healthy control (HC) subjects from a Chinese Han population 0.4 Genetic Polymorphisms of miR-149 Associated with Susceptibility to Both Pulmonary and Extrapulmonary Tuberculosis. two-stage association study hsa-mir-149 miRNA Tuberculosis 0.33 GTGCTGGGGC(A > G)GCTGGAACAA chr2: 240456083 0.856,0.144 0.86584161569826707,0.13415838430173292 Region score:0.31; TSS score:0.43; Unmatched score:0.89; Average GERP:1.6272524752475235 GeneName:AC110619.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000218416; TranscriptID:ENST00000404891; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GPC1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000063660; TranscriptID:ENST00000264039; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR149; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207611; TranscriptID:ENST00000384879; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000133146; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004164 30637557 miR-149 rs2292832 ? N/A 300 control individuals and 203 VTE patients EFO_0004286 N/A no significance for risk venous thromboembolism rs2292832-? of hsa-mir-149 and its dysfunction is not significantly associated with Venous thromboembolism by using two-stage association study in 300 control individuals and 203 VTE patients -0.4 Association study of miR-146a, miR-149, miR-196a2, and miR-499 polymorphisms with venous thromboembolism in a Korean population. two-stage association study hsa-mir-149 miRNA Venous thromboembolism -0.33 CTGGGGCAGC(T > A,C)GGAACAACGC chr2: 240456086 0.3866,.,0.6134 0.31987449031600407,0.00025484199796126,0.67987066768603465 Region score:0.3; TSS score:0.39; Unmatched score:0.89; Average GERP:1.5002722772277222 GeneName:AC110619.1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000218416; TranscriptID:ENST00000404891; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GPC1; CADD-Score:2; Consquence:intron; GeneID:ENSG00000063660; TranscriptID:ENST00000264039; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR149; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000207611; TranscriptID:ENST00000384879; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000133146; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004165 26114385 miR-146a rs2910164 G Dominant 3138 Coronary artery disease cases and 3097 controls EFO_0001645 N/A decreasing risk coronary artery disease rs2910164-G of hsa-mir-146a and its dysfunction is significantly associated with the decreasing risk of Coronary heart disease by using meta-analysis in 3138 Coronary artery disease cases and 3097 controls 0.4 Meta-Analysis of miR-146a Polymorphisms Association with Coronary Artery Diseases and Ischemic Stroke. meta-analysis hsa-mir-146a miRNA Coronary heart disease 0.181 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 0 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004165 23794009 miR-146a rs2910164 C N/A 106 young Indian male CAD patients and 100 age-, race- and sex-matched controls EFO_0001645 N/A no significance for risk coronary artery disease rs2910164-C of hsa-mir-146a and its dysfunction is not significantly associated with Coronary heart disease by using case-control analysis in 106 young Indian male CAD patients and 100 age-, race- and sex-matched controls -0.4 miR-146a polymorphism influences levels of miR-146a, IRAK-1, and TRAF-6 in young patients with coronary artery disease. case-control analysis hsa-mir-146a miRNA Coronary heart disease 0.181 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 0 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004165 24447667 miR-146a rs2910164 C Dominant 295 coronary artery disease patients and 283 controls in a Chinese population EFO_0001645 N/A increasing risk coronary artery disease rs2910164-C of hsa-mir-146a and its dysfunction is significantly associated with the increasing risk of Coronary heart disease by using case-control analysis in 295 coronary artery disease patients and 283 controls in a Chinese population 0.4 A common variant in pre-miR-146 is associated with coronary artery disease risk and its mature miRNA expression. case-control analysis hsa-mir-146a miRNA Coronary heart disease 0.181 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 0 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004166 30642347 miRNA-146a rs2910164 C recessive 509 Ghanaian women attending antenatal care (ANC) and 296 delivering Ghanaian primiparae EFO_0001068 N/A increasing risk malaria rs2910164-C of hsa-mir-146a and its dysfunction is significantly associated with the increasing risk of Malaria by using two-stage association study in 509 Ghanaian women attending antenatal care (ANC) and 296 delivering Ghanaian primiparae 0.4 MiRNA-146a polymorphism increases the odds of malaria in pregnancy. two-stage association study hsa-mir-146a miRNA Malaria 0.33 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 0 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004167 30904593 miR-146a rs2910164 ? N/A 75 patients and 75 controls MONDO_0008170 N/A no significance for risk ovarian cancer rs2910164-? of hsa-mir-146a and its dysfunction is not significantly associated with Ovarian cancer by using two-stage association study in 75 patients and 75 controls -0.4 Identification of miR-146a and miR-196a-2 single nucleotide polymorphisms at patients with high-grade serous ovarian cancer. two-stage association study hsa-mir-146a miRNA Ovarian cancer -0.33 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 0 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004168 30599464 microRNA-146a rs57095329 ? N/A 110 cerebral malaria and 207 uncomplicated malaria cases EFO_0006857 N/A no significance for risk cerebral malaria rs57095329-? of hsa-mir-146a and its dysfunction is not significantly associated with Cerebral malaria by using two-stage association study in 110 cerebral malaria and 207 uncomplicated malaria cases -0.4 microRNA-27a and microRNA-146a SNP in cerebral malaria. two-stage association study hsa-mir-146a miRNA Cerebral malaria -0.33 GAGAGTACAG(A > G)CAGGAAGCCT chr5: 160467840 0.8572,0.1428 0.91701707441386340,0.08298292558613659 Region score:0.55; TSS score:0.62; Unmatched score:0.87; Average GERP:3.053772277227722 GeneName:MIR3142HG; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775866; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004169 30599464 microRNA-146a rs2910164 ? N/A 110 cerebral malaria and 207 uncomplicated malaria cases EFO_0006857 N/A no significance for risk cerebral malaria rs2910164-? of hsa-mir-146a and its dysfunction is not significantly associated with Cerebral malaria by using two-stage association study in 110 cerebral malaria and 207 uncomplicated malaria cases -0.4 microRNA-27a and microRNA-146a SNP in cerebral malaria. two-stage association study hsa-mir-146a miRNA Cerebral malaria -0.33 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 0 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004170 30637557 miR-146a rs2910164 ? N/A 300 control individuals and 203 VTE patients EFO_0004286 N/A no significance for risk venous thromboembolism rs2910164-? of hsa-mir-146a and its dysfunction is not significantly associated with Venous thromboembolism by using two-stage association study in 300 control individuals and 203 VTE patients -0.4 Association study of miR-146a, miR-149, miR-196a2, and miR-499 polymorphisms with venous thromboembolism in a Korean population. two-stage association study hsa-mir-146a miRNA Venous thromboembolism -0.33 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 0 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004171 30624803 miRNA-146a rs2910164 G N/A 266 patients with chronic HBV infection, 172 patients with spontaneous viral clearance (SVC) after acute HBV infection, and 266 healthy control adjusted for sex and age EFO_0004197 N/A increasing risk hepatitis B virus infection rs2910164-G of hsa-mir-146a and its dysfunction is significantly associated with the increasing risk of Hepatitis b infection by using two-stage association study in 266 patients with chronic HBV infection, 172 patients with spontaneous viral clearance (SVC) after acute HBV infection, and 266 healthy control adjusted for sex and age 0.4 Association between miRNA-146a rs2910164 (G/C) polymorphism with the susceptibility to chronic HBV infection and spontaneous viral clearance in an Iranian population. two-stage association study hsa-mir-146a miRNA Hepatitis b infection 0.33 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 0 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004172 31738890 miR-146a rs2910164 G N/A 150 healthy controls (group I), 150 chronic schizophrenic patients without any evidences of stroke (group II) and 150 chronic schizophrenic patients with AIS (group III) EFO_0000692 N/A increasing risk schizophrenia rs2910164-G of hsa-mir-146a and its dysfunction is significantly associated with the increasing risk of Schizophrenia by using two-stage association study in 150 healthy controls (group I), 150 chronic schizophrenic patients without any evidences of stroke (group II) and 150 chronic schizophrenic patients with AIS (group III) 0.9 Micro RNA 146a gene variant / TNF-伪 / IL-6 / IL-1 尾; A cross-link axis inbetween oxidative stress, endothelial dysfunction and neuro-inflammation in acute ischemic stroke and chronic schizophrenic patients. two-stage association study hsa-mir-146a miRNA Schizophrenia 0.593 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 0 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004173 31307168 pre-miR-146a rs2910164 ? N/A 65 AF patients were confirmed with electrocardiogram (ECG) or dynamic electrocardiography, 58 normal individuals were assigned to the control group EFO_0000275 N/A no significance for risk atrial fibrillation rs2910164-? of hsa-mir-146a and its dysfunction is not significantly associated with Atrial fibrillation by using two-stage association study in 65 AF patients were confirmed with electrocardiogram (ECG) or dynamic electrocardiography, 58 normal individuals were assigned to the control group -0.4 Effects of Polymorphisms in Pre-miRNA on Inflammatory Markers in Atrial Fibrillation in Han Chinese. two-stage association study hsa-mir-146a miRNA Atrial fibrillation -0.33 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 0 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004174 30308218 miR-146a rs2910164 C N/A 102 SSc patients and 66 healthy subjects EFO_0009448 N/A increasing risk pulmonary fibrosis rs2910164-C of hsa-mir-146a and its dysfunction is significantly associated with the increasing risk of Pulmonary fibrosis by using two-stage association study in 102 SSc patients and 66 healthy subjects 0.4 Impact of alterations in X-linked IRAK1gene and miR-146a on susceptibility and clinical manifestations in patients with systemic sclerosis. two-stage association study hsa-mir-146a miRNA Pulmonary fibrosis 0.33 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 0 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004175 31099778 MIR146A rs2910164 ? N/A 110 patients with PPMS锛?564 patients with RRMS and 424 healthy volunteers EFO_0003885 N/A no significance for risk multiple sclerosis rs2910164-? of hsa-mir-146a and its dysfunction is not significantly associated with Multiple sclerosis by using two-stage association study in 110 patients with PPMS锛?564 patients with RRMS and 424 healthy volunteers -0.4 [Variability of the MIR196A2 Gene as a Risk Factor in Primary-Progressive Multiple Sclerosis Development]. two-stage association study hsa-mir-146a miRNA Multiple sclerosis -0.33 TGTCAGACCT(C > G)TGAAATTCAG chr5: 160485411 0 0.31581294597349643,0.68418705402650356 Region score:0.86; TSS score:0.84; Unmatched score:0.92; Average GERP:3.3184059405940554 GeneName:MIR146A; CADD-Score:5; Consquence:mature_miRNA; GeneID:ENSG00000283733; TranscriptID:ENST00000385201; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3142HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000253522; TranscriptID:ENST00000517927; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000775873; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004176 30684755 miR-145 rs41291957 ? N/A 180 workers with more than 8 years omethoate-exposure and 115 healthy controls EFO_0004505 N/A no significance for risk telomere length rs41291957-? of hsa-mir-145 and its dysfunction is not significantly associated with Telomere length by using two-stage association study in 180 workers with more than 8 years omethoate-exposure and 115 healthy controls -0.4 Association of genetic polymorphisms of miR-145 gene with telomere length in omethoate-exposed workers. two-stage association study hsa-mir-145 miRNA Telomere length -0.33 AGCCTCCCGG(G > A)CCAGAGCTGG chr5:149428827 0.8786,0.1214 0.88401503567787971,0.11598496432212028 Region score:0.35;TSS score:0.32;Unmatched score:0.48;Average GERP:0.7505 GeneName:CARMN; CADD_score:1; Consquence:downstream; GeneID:ENSG00000249669; TranscriptID:ENST00000602964; AnnoType:Intergenic; mirSVR-Score:-0.0008; mirSVR-E:-20.64 | GeneName:AC131025.2; CADD_score:1; Consquence:upstream; GeneID:ENSG00000275871; TranscriptID:ENST00000622374; AnnoType:Intergenic; mirSVR-Score:-0.0008; mirSVR-E:-20.64 | GeneName:MIR145; CADD_score:1; Consquence:upstream; GeneID:ENSG00000276365; TranscriptID:ENST00000384967; AnnoType:Intergenic; mirSVR-Score:-0.0008; mirSVR-E:-20.64 | GeneName:MIR143; CADD_score:1; Consquence:upstream; GeneID:ENSG00000284182; TranscriptID:ENST00000385300; AnnoType:Intergenic; mirSVR-Score:-0.0008; mirSVR-E:-20.64 | GeneName:NA; CADD_score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000773442; AnnoType:RegulatoryFeature; mirSVR-Score:-0.0008; mirSVR-E:-20.64 | NCRV0000004177 30684755 miR-145 rs353291 G Dominant 180 workers with more than 8 years omethoate-exposure and 115 healthy controls EFO_0004505 N/A Associate telomere length rs353291-G of hsa-mir-145 and its dysfunction is significantly associated with Telomere length by using two-stage association study in 180 workers with more than 8 years omethoate-exposure and 115 healthy controls 0.4 Association of genetic polymorphisms of miR-145 gene with telomere length in omethoate-exposed workers. two-stage association study hsa-mir-145 miRNA Telomere length 0.33 CGATTTGGAA(T > C)GCAGCCAGAG chr5: 149431183 0.6392,0.3608 0.64334066004077471,0.35665933995922528 Region score:0.46; TSS score:0.43; Unmatched score:0.53; Average GERP:-0.7545225742574255 GeneName:AC131025.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000275871; TranscriptID:ENST00000622374; AnnoType:UPSTREAM; mirSVR-Score:-0.0084; mirSVR-E:-16.01 | GeneName:CARMN; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000249669; TranscriptID:ENST00000602964; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0084; mirSVR-E:-16.01 | GeneName:MIR143; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000284182; TranscriptID:ENST00000385300; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0084; mirSVR-E:-16.01 | GeneName:MIR145; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000276365; TranscriptID:ENST00000384967; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0084; mirSVR-E:-16.01 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000317875; AnnoType:REGULATORY; mirSVR-Score:-0.0084; mirSVR-E:-16.01 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000773440; AnnoType:REGULATORY; mirSVR-Score:-0.0084; mirSVR-E:-16.01 | NCRV0000004178 30684755 miR-145 rs4705342 ? N/A 180 workers with more than 8 years omethoate-exposure and 115 healthy controls EFO_0004505 N/A no significance for risk telomere length rs4705342-? of hsa-mir-145 and its dysfunction is not significantly associated with Telomere length by using two-stage association study in 180 workers with more than 8 years omethoate-exposure and 115 healthy controls -0.4 Association of genetic polymorphisms of miR-145 gene with telomere length in omethoate-exposed workers. two-stage association study hsa-mir-145 miRNA Telomere length -0.33 TAAGTACCAT(T > C,G)GAATGATGCT chr5:149428408 0.8882,0.1118,. 0.89885161824668705,0.10113245412844036,0.00001592762487257 Region score:0.28;TSS score:0.3;Unmatched score:0.25;Average GERP:-0.905 GeneName:AC131025.2; CADD_score:1; Consquence:UPSTREAM; GeneID:ENSG00000275871; TranscriptID:ENST00000622374; AnnoType:Intergenic; mirSVR-Score:-0.0003; mirSVR-E:-9.35 | GeneName:MIR145; CADD_score:1; Consquence:UPSTREAM; GeneID:ENSG00000276365; TranscriptID:ENST00000384967; AnnoType:Intergenic; mirSVR-Score:-0.0003; mirSVR-E:-9.35 | GeneName:MIR143; CADD_score:1; Consquence:UPSTREAM; GeneID:ENSG00000284182; TranscriptID:ENST00000385300; AnnoType:Intergenic; mirSVR-Score:-0.0003; mirSVR-E:-9.35 | GeneName:CARMN; CADD_score:5; Consquence:NONCODING_CHANGE; GeneID:ENSG00000249669; TranscriptID:ENST00000602964; AnnoType:NonCodingTranscript; mirSVR-Score:-0.0003; mirSVR-E:-9.35 | GeneName:AC131025.2; CADD_score:1; Consquence:UPSTREAM; GeneID:ENSG00000275871; TranscriptID:ENST00000622374; AnnoType:Intergenic; mirSVR-Score:-0.0003; mirSVR-E:-9.35 | GeneName:MIR145; CADD_score:1; Consquence:UPSTREAM; GeneID:ENSG00000276365; TranscriptID:ENST00000384967; AnnoType:Intergenic; mirSVR-Score:-0.0003; mirSVR-E:-9.35 | GeneName:MIR143; CADD_score:1; Consquence:UPSTREAM; GeneID:ENSG00000284182; TranscriptID:ENST00000385300; AnnoType:Intergenic; mirSVR-Score:-0.0003; mirSVR-E:-9.35 | GeneName:CARMN; CADD_score:5; Consquence:NONCODING_CHANGE; GeneID:ENSG00000249669; TranscriptID:ENST00000602964; AnnoType:NonCodingTranscript; mirSVR-Score:-0.0003; mirSVR-E:-9.35 | NCRV0000004179 30818878 MIR143 rs3733846 G N/A 300 cases, 140 controls EFO_0005952 N/A decreasing risk non-Hodgkins lymphoma rs3733846-G of hsa-mir-143 and its dysfunction is significantly associated with the decreasing risk of Non-hodgkins lymphoma by using two-stage association study in 300 cases, 140 controls 0.4 Single Nucleotide Polymorphisms in MIR143 Contribute to Protection Against Non-Hodgkin Lymphoma (NHL) in Caucasian Populations. two-stage association study hsa-mir-143 miRNA Non-hodgkins lymphoma 0.33 ACAAATGATT(T > A,C,G)GTGCTTATTA chr5:149425059 0.7937,0.2063 0.80889239296636085,0.19110760703363914 Region score:0.31;TSS score:0.29;Unmatched score:0.5;Average GERP:-1.2 GeneName:AC131025.2; CADD_score:1; Consquence:downstream; GeneID:ENSG00000275871; TranscriptID:ENST00000622374; AnnoType:Intergenic; mirSVR-Score:-0.0168; mirSVR-E:-10.67 | GeneName:MIR143; CADD_score:1; Consquence:upstream; GeneID:ENSG00000284182; TranscriptID:ENST00000385300; AnnoType:Intergenic; mirSVR-Score:-0.0168; mirSVR-E:-10.67 | GeneName:CARMN; CADD_score:5; Consquence:noncoding_change; GeneID:ENSG00000249669; TranscriptID:ENST00000602964; AnnoType:NonCodingTranscript; mirSVR-Score:-0.0168; mirSVR-E:-10.67 | GeneName:NA; CADD_score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000773432; AnnoType:RegulatoryFeature; mirSVR-Score:-0.0168; mirSVR-E:-10.67 | NCRV0000004180 30818878 MIR143 rs41291957 A N/A 300 cases, 140 controls EFO_0005952 N/A decreasing risk non-Hodgkins lymphoma rs41291957-A of hsa-mir-143 and its dysfunction is significantly associated with the decreasing risk of Non-hodgkins lymphoma by using two-stage association study in 300 cases, 140 controls 0.4 Single Nucleotide Polymorphisms in MIR143 Contribute to Protection Against Non-Hodgkin Lymphoma (NHL) in Caucasian Populations. two-stage association study hsa-mir-143 miRNA Non-hodgkins lymphoma 0.33 CAGCCTCCCG(G > A)CCAGAGCTGG chr5: 149428827 0.8786,0.1214 0.88401503567787971,0.11598496432212028 Region score:0.35; TSS score:0.32; Unmatched score:0.48; Average GERP:-1.2492930693069306 GeneName:AC131025.2; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000275871; TranscriptID:ENST00000622374; AnnoType:UPSTREAM; mirSVR-Score:-0.0008; mirSVR-E:-20.64 | GeneName:CARMN; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000249669; TranscriptID:ENST00000602964; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0008; mirSVR-E:-20.64 | GeneName:MIR143; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284182; TranscriptID:ENST00000385300; AnnoType:UPSTREAM; mirSVR-Score:-0.0008; mirSVR-E:-20.64 | GeneName:MIR145; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000276365; TranscriptID:ENST00000384967; AnnoType:UPSTREAM; mirSVR-Score:-0.0008; mirSVR-E:-20.64 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000773442; AnnoType:REGULATORY; mirSVR-Score:-0.0008; mirSVR-E:-20.64 | NCRV0000004181 30818878 MIR143 rs17723799 T N/A 300 cases, 140 controls EFO_0005952 N/A decreasing risk non-Hodgkins lymphoma rs17723799-T of hsa-mir-143 and its dysfunction is significantly associated with the decreasing risk of Non-hodgkins lymphoma by using two-stage association study in 300 cases, 140 controls 0.9 Single Nucleotide Polymorphisms in MIR143 Contribute to Protection Against Non-Hodgkin Lymphoma (NHL) in Caucasian Populations. two-stage association study hsa-mir-143 miRNA Non-hodgkins lymphoma 0.593 TGGCATCTAC(C > T)ACCACCTGGC chr5:149427514 0.8882,0.1118 0.89874808868501529,0.10125191131498470 Region score:0.38;TSS score:0.43;Unmatched score:0.28;Average GERP:3.31 GeneName:MIR145; CADD_score:1; Consquence:upstream; GeneID:ENSG00000276365; TranscriptID:ENST00000384967; AnnoType:Intergenic; mirSVR-Score:-0.0011; mirSVR-E:-25.10 | GeneName:MIR143; CADD_score:1; Consquence:upstream; GeneID:ENSG00000284182; TranscriptID:ENST00000385300; AnnoType:Intergenic; mirSVR-Score:-0.0011; mirSVR-E:-25.10 | GeneName:CARMN; CADD_score:5; Consquence:noncoding_change; GeneID:ENSG00000249669; TranscriptID:ENST00000602964; AnnoType:NonCodingTranscript; mirSVR-Score:-0.0011; mirSVR-E:-25.10 | GeneName:NA; CADD_score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000773439; AnnoType:RegulatoryFeature; mirSVR-Score:-0.0011; mirSVR-E:-25.10 | GeneName:AC131025.2; CADD_score:2; Consquence:intronic; GeneID:ENSG00000275871; TranscriptID:ENST00000622374; AnnoType:Transcript; mirSVR-Score:-0.0011; mirSVR-E:-25.10 | NCRV0000004182 31322790 miR-142 rs2526377 G N/A late-onset AD including 455,258 individuals of European ancestry EFO_0000249 N/A decreasing risk Alzheimer's disease rs2526377-G of hsa-mir-142 and its dysfunction is significantly associated with the decreasing risk of Alzheimers disease by using genome-wide association analysis in late-onset AD including 455,258 individuals of European ancestry 2 A functional variant in the miR-142 promoter modulating its expression and conferring risk of Alzheimer disease. genome-wide association analysis hsa-mir-142 miRNA Alzheimers disease 0.865 GGAAACAGAA(A > G)GGGGGTGGGC chr17:58332680 0.471,0.529 0.50494552752293577,0.49505447247706422 Region score:0.34;TSS score:0.47;Unmatched score:0.71;Average GERP:3.345 GeneName:MIR4736; CADD_score:1; Consquence:downstream; GeneID:ENSG00000264399; TranscriptID:ENST00000581591; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TSPOAP1; CADD_score:1; Consquence:upstream; GeneID:ENSG00000005379; TranscriptID:ENST00000343736; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:TSPOAP1-AS1; CADD_score:1; Consquence:upstream; GeneID:ENSG00000265148; TranscriptID:ENST00000580022; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC004687.1; CADD_score:1; Consquence:upstream; GeneID:ENSG00000265206; TranscriptID:ENST00000579003; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR142; CADD_score:1; Consquence:upstream; GeneID:ENSG00000284353; TranscriptID:ENST00000384835; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD_score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000096246; AnnoType:RegulatoryFeature; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004183 30804514 miR-140 NR_029681.1:n.24A>G G Dominant two unrelated families with skeletal dysplasia HP_0002652 N/A Associate Skeletal dysplasia NR_029681.1:n.24A>G-G of hsa-mir-140 and its dysfunction is significantly associated with Skeletal dysplasia by using Pedigree analysis in two unrelated families with skeletal dysplasia 2 Gain-of-function mutation of microRNA-140 in human skeletal dysplasia. Pedigree analysis hsa-mir-140 miRNA Skeletal dysplasia 0.865 - - - - - - NCRV0000004184 21793975 miR-135b Amplification amplification Dominant 48 medulloblastomas EFO_0002939 N/A increasing risk medulloblastoma Amplification-amplification of hsa-mir-135b and its dysfunction is significantly associated with the increasing risk of Medulloblastoma by using analysis of sequence variation in 48 medulloblastomas 0.4 Genetic alterations in microRNAs in medulloblastomas. analysis of sequence variation hsa-mir-135b miRNA Medulloblastoma 0.33 - - - - - - NCRV0000004185 21793975 miR-135b Deletion del Dominant 48 medulloblastomas EFO_0002939 N/A increasing risk medulloblastoma Deletion-del of hsa-mir-135b and its dysfunction is significantly associated with the increasing risk of Medulloblastoma by using analysis of sequence variation in 48 medulloblastomas 0.4 Genetic alterations in microRNAs in medulloblastomas. analysis of sequence variation hsa-mir-135b miRNA Medulloblastoma 0.33 - - - - - - NCRV0000004186 21793975 miR-135a-2 Amplification amplification Dominant 48 medulloblastomas EFO_0002939 N/A increasing risk medulloblastoma Amplification-amplification of hsa-mir-135a-2 and its dysfunction is significantly associated with the increasing risk of Medulloblastoma by using analysis of sequence variation in 48 medulloblastomas 0.4 Genetic alterations in microRNAs in medulloblastomas. analysis of sequence variation hsa-mir-135a-2 miRNA Medulloblastoma 0.33 - - - - - - NCRV0000004187 21793975 miR-135a-2 Deletion del Dominant 48 medulloblastomas EFO_0002939 N/A increasing risk medulloblastoma Deletion-del of hsa-mir-135a-2 and its dysfunction is significantly associated with the increasing risk of Medulloblastoma by using analysis of sequence variation in 48 medulloblastomas 0.4 Genetic alterations in microRNAs in medulloblastomas. analysis of sequence variation hsa-mir-135a-2 miRNA Medulloblastoma 0.33 - - - - - - NCRV0000004188 21793975 miR-135a-1 Deletion del Dominant 48 medulloblastomas EFO_0002939 N/A increasing risk medulloblastoma Deletion-del of hsa-mir-135a-1 and its dysfunction is significantly associated with the increasing risk of Medulloblastoma by using analysis of sequence variation in 48 medulloblastomas 0.4 Genetic alterations in microRNAs in medulloblastomas. analysis of sequence variation hsa-mir-135a-1 miRNA Medulloblastoma 0.33 - - - - - - NCRV0000004189 31876746 miR-130a rs731384 T N/A 156 PCa cases and 188 control subjects EFO_0001663 N/A no significance for risk prostate carcinoma rs731384-T of hsa-mir-130a and its dysfunction is not significantly associated with Prostate carcinoma by using two-stage association study in 156 PCa cases and 188 control subjects -0.4 Association of Hsa-miR-23a rs3745453 variation with prostate cancer risk among Chinese Han population: A case-control study. two-stage association study hsa-mir-130a miRNA Prostate carcinoma -0.33 CTAATAGCCG(G > A)TTTTCTTTGA chr11:57640909 0.8331,0.1669 0.79197725535168195,0.20802274464831804 Region score:0.52;TSS score:0.3;Unmatched score:0.66;Average GERP:-0.66 GeneName:YPEL4; CADD_score:1; Consquence:downstream; GeneID:ENSG00000166793; TranscriptID:ENST00000524669; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR130A; CADD_score:1; Consquence:upstream; GeneID:ENSG00000208009; TranscriptID:ENST00000385274; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD_score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000039909; AnnoType:RegulatoryFeature; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD_score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000264066; AnnoType:RegulatoryFeature; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AP000662.1; CADD_score:2; Consquence:intronic; GeneID:ENSG00000254602; TranscriptID:ENST00000530595; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004190 30684755 miR-126 rs2297537 ? N/A 180 workers with more than 8 years omethoate-exposure and 115 healthy controls EFO_0004505 N/A no significance for risk telomere length rs2297537-? of hsa-mir-126 and its dysfunction is not significantly associated with Telomere length by using two-stage association study in 180 workers with more than 8 years omethoate-exposure and 115 healthy controls -0.4 Association of genetic polymorphisms of miR-145 gene with telomere length in omethoate-exposed workers. two-stage association study hsa-mir-126 miRNA Telomere length -0.33 AGGCTGGCTC(C > G,T)TACCCTGGGG chr9:136670022 0.735,0.265,. 0.66860187308868501,0.33139016309887869,0.00000796381243628 Region score:0.45;TSS score:0.52;Unmatched score:0.69;Average GERP:3.715 GeneName:AGPAT2; CADD_score:1; Consquence:DOWNSTREAM; GeneID:ENSG00000169692; TranscriptID:ENST00000371696; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR126; CADD_score:1; Consquence:UPSTREAM; GeneID:ENSG00000199161; TranscriptID:ENST00000362291; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD_score:4; Consquence:REGULATORY; GeneID:NA; TranscriptID:ENSR00000243058; AnnoType:RegulatoryFeature; mirSVR-Score:NA; mirSVR-E:NA | GeneName:EGFL7; CADD_score:2; Consquence:INTRONIC; GeneID:ENSG00000172889; TranscriptID:ENST00000371699; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AGPAT2; CADD_score:1; Consquence:DOWNSTREAM; GeneID:ENSG00000169692; TranscriptID:ENST00000371696; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR126; CADD_score:1; Consquence:UPSTREAM; GeneID:ENSG00000199161; TranscriptID:ENST00000362291; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD_score:4; Consquence:REGULATORY; GeneID:NA; TranscriptID:ENSR00000243058; AnnoType:RegulatoryFeature; mirSVR-Score:NA; mirSVR-E:NA | GeneName:EGFL7; CADD_score:2; Consquence:INTRONIC; GeneID:ENSG00000172889; TranscriptID:ENST00000371699; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004191 30684755 miR-126 rs2297538 ? N/A 180 workers with more than 8 years omethoate-exposure and 115 healthy controls EFO_0004505 N/A no significance for risk telomere length rs2297538-? of hsa-mir-126 and its dysfunction is not significantly associated with Telomere length by using two-stage association study in 180 workers with more than 8 years omethoate-exposure and 115 healthy controls -0.4 Association of genetic polymorphisms of miR-145 gene with telomere length in omethoate-exposed workers. two-stage association study hsa-mir-126 miRNA Telomere length -0.33 CAGCGCTGCG(G > A)TCAACACCGC chr9:136670216 0.8317,0.1683 0.79412748470948012,0.20587251529051987 Region score:0.27;TSS score:0.38;Unmatched score:0.84;Average GERP:2.779 GeneName:EGFL7; CADD_score:7; Consquence:non_synonymous; GeneID:ENSG00000172889; TranscriptID:ENST00000371699; AnnoType:CodingTranscript; mirSVR-Score:-0.0003; mirSVR-E:-11 | GeneName:AGPAT2; CADD_score:1; Consquence:downstream; GeneID:ENSG00000169692; TranscriptID:ENST00000371696; AnnoType:Intergenic; mirSVR-Score:-0.0003; mirSVR-E:-11 | GeneName:MIR126; CADD_score:1; Consquence:upstream; GeneID:ENSG00000199161; TranscriptID:ENST00000362291; AnnoType:Intergenic; mirSVR-Score:-0.0003; mirSVR-E:-11 | GeneName:NA; CADD_score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000243058; AnnoType:RegulatoryFeature; mirSVR-Score:-0.0003; mirSVR-E:-11 | GeneName:NA; CADD_score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000338220; AnnoType:RegulatoryFeature; mirSVR-Score:-0.0003; mirSVR-E:-11 | NCRV0000004192 30684755 miR-126 rs4636297 ? N/A 180 workers with more than 8 years omethoate-exposure and 115 healthy controls EFO_0004505 N/A no significance for risk telomere length rs4636297-? of hsa-mir-126 and its dysfunction is not significantly associated with Telomere length by using two-stage association study in 180 workers with more than 8 years omethoate-exposure and 115 healthy controls -0.4 Association of genetic polymorphisms of miR-145 gene with telomere length in omethoate-exposed workers. two-stage association study hsa-mir-126 miRNA Telomere length -0.33 CGCATCGAAA(A > G)CGCCGCTGAG chr9: 136670698 0.3057,0.6943 0.35495508409785932,0.64504491590214067 Region score:0.32; TSS score:0.31; Unmatched score:0.76; Average GERP:0.7106336633663374 GeneName:AGPAT2; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000169692; TranscriptID:ENST00000371696; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:EGFL7; CADD-Score:2; Consquence:intron; GeneID:ENSG00000172889; TranscriptID:ENST00000371699; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR126; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000199161; TranscriptID:ENST00000362291; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000243058; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000338220; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004193 30302847 miRNA-125a rs12976445 T Dominant 699 NSCLC patients EFO_0003060 N/A increasing risk non-small cell lung carcinoma rs12976445-T of hsa-mir-125a and its dysfunction is significantly associated with the increasing risk of Non-small cell lung carcinoma by using two-stage association study in 699 NSCLC patients 1.4 Regulation of miR-125a expression by rs12976445 single-nucleotide polymorphism聽is associated with radiotherapy-induced pneumonitis in lung carcinoma patients. two-stage association study hsa-mir-125a miRNA Non-small cell lung carcinoma 0.753 TCTCTGTGCC(T > C)ATCTCCATCT chr19: 51693200 0.4349,0.5651 0.53015099388379204,0.46984900611620795 Region score:0.17; TSS score:0.49; Unmatched score:0.61; Average GERP:-0.9224930693069308 GeneName:MIR125A; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000208008; TranscriptID:ENST00000385273; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR99B; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207550; TranscriptID:ENST00000384819; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIRLET7E; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000198972; TranscriptID:ENST00000362102; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SPACA6; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000182310; TranscriptID:ENST00000637797; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SPACA6P-AS; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000269959; TranscriptID:ENST00000602324; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004194 31842980 miR-125a rs12976445 ? N/A 118 patients with RIF and 228 controls MP_0001728 N/A no significance for risk recurrent implantation failure rs12976445-? of hsa-mir-125a and its dysfunction is not significantly associated with Failure of embryo implantation by using two-stage association study in 118 patients with RIF and 228 controls -0.4 Associations between microRNA (miR-25, miR-32, miR-125, and miR-222) polymorphisms and recurrent implantation failure in Korean women. two-stage association study hsa-mir-125a miRNA Failure of embryo implantation -0.33 TCTCTGTGCC(T > C)ATCTCCATCT chr19: 51693200 0.4349,0.5651 0.53015099388379204,0.46984900611620795 Region score:0.17; TSS score:0.49; Unmatched score:0.61; Average GERP:-0.9224930693069308 GeneName:MIR125A; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000208008; TranscriptID:ENST00000385273; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR99B; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000207550; TranscriptID:ENST00000384819; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIRLET7E; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000198972; TranscriptID:ENST00000362102; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SPACA6; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000182310; TranscriptID:ENST00000637797; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:SPACA6P-AS; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000269959; TranscriptID:ENST00000602324; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004195 30662901 miR-122 rs9966765 C N/A 1050 HCC patients and 1079 cancer-free controls EFO_0000182 N/A no significance for risk hepatocellular carcinoma rs9966765-C of hsa-mir-122 and its dysfunction is not significantly associated with Hepatocellular carcinoma by using two-stage association study in 1050 HCC patients and 1079 cancer-free controls -0.4 Single Nucleotide Polymorphisms in miR-122 Are Associated with the Risk of Hepatocellular Carcinoma in a Southern Chinese Population. two-stage association study hsa-mir-122 miRNA Hepatocellular carcinoma -0.33 AGGAGGTGGC(C > A,G,T)GATTTCTGTT chr18:58449558 0.2394,0.7606,. 0.21371687054026503,0.78107479612640163,0.00520833333333333 Region score:0.36;TSS score:0.31;Unmatched score:0.39;Average GERP:2.071 GeneName:MIR3591; CADD_score:1; Consquence:downstream; GeneID:ENSG00000207778; TranscriptID:ENST00000636727; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR122; CADD_score:1; Consquence:upstream; GeneID:ENSG00000284440; TranscriptID:ENST00000385044; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR122HG; CADD_score:5; Consquence:noncoding_change; GeneID:ENSG00000267391; TranscriptID:ENST00000590797; AnnoType:NonCodingTranscript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD_score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000577471; AnnoType:RegulatoryFeature; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004196 30662901 miR-122 rs1135519 C recessive 1050 HCC patients and 1079 cancer-free controls EFO_0000182 N/A increasing risk hepatocellular carcinoma rs1135519-C of hsa-mir-122 and its dysfunction is significantly associated with the increasing risk of Hepatocellular carcinoma by using two-stage association study in 1050 HCC patients and 1079 cancer-free controls 0.4 Single Nucleotide Polymorphisms in miR-122 Are Associated with the Risk of Hepatocellular Carcinoma in a Southern Chinese Population. two-stage association study hsa-mir-122 miRNA Hepatocellular carcinoma 0.33 GGAAGATAAC(C > G,T)GAATCCACAA chr18:58449913 0.3177,.,0.6823 0.25832218399592252,0.03817851681957186,0.70349929918450560 Region score:0.28;TSS score:0.2;Unmatched score:0.22;Average GERP:0.99 GeneName:MIR3591; CADD_score:1; Consquence:DOWNSTREAM; GeneID:ENSG00000207778; TranscriptID:ENST00000636727; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR122; CADD_score:1; Consquence:UPSTREAM; GeneID:ENSG00000284440; TranscriptID:ENST00000385044; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR122HG; CADD_score:5; Consquence:NONCODING_CHANGE; GeneID:ENSG00000267391; TranscriptID:ENST00000590797; AnnoType:NonCodingTranscript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3591; CADD_score:1; Consquence:DOWNSTREAM; GeneID:ENSG00000207778; TranscriptID:ENST00000636727; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR122; CADD_score:1; Consquence:UPSTREAM; GeneID:ENSG00000284440; TranscriptID:ENST00000385044; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR122HG; CADD_score:5; Consquence:NONCODING_CHANGE; GeneID:ENSG00000267391; TranscriptID:ENST00000590797; AnnoType:NonCodingTranscript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004197 30662901 miR-122 rs17669 ? N/A 1050 HCC patients and 1079 cancer-free controls EFO_0000182 N/A no significance for risk hepatocellular carcinoma rs17669-? of hsa-mir-122 and its dysfunction is not significantly associated with Hepatocellular carcinoma by using two-stage association study in 1050 HCC patients and 1079 cancer-free controls -0.4 Single Nucleotide Polymorphisms in miR-122 Are Associated with the Risk of Hepatocellular Carcinoma in a Southern Chinese Population. two-stage association study hsa-mir-122 miRNA Hepatocellular carcinoma -0.33 TAAAGTCTGG(C > T)TCTTTTGCAC chr18: 58451261 0.2975,0.7025 0.27535677879714576,0.72464322120285423 Region score:0.34; TSS score:0.28; Unmatched score:0.18; Average GERP:-0.8432356435643568 GeneName:MIR122; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000284440; TranscriptID:ENST00000385044; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR122HG; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000267391; TranscriptID:ENST00000590797; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR3591; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207778; TranscriptID:ENST00000636727; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004198 25197382 miRNA-1 rs9548934 T N/A 1013 coronary artery disease patients and 610 normal controls EFO_0001645 N/A decreasing risk coronary artery disease rs9548934-T of hsa-mir-1-1 and its dysfunction is significantly associated with the decreasing risk of Coronary heart disease by using case-control analysis in 1013 coronary artery disease patients and 610 normal controls 0.4 Polymorphism in miRNA-1 target site and circulating miRNA-1 phenotype are associated with the decreased risk and prognosis of coronary artery disease. case-control analysis hsa-mir-1-1 miRNA Coronary heart disease 0.33 TGACTCATTC(C > T)AATCACCTGC chr13: 39789504 0 0.99793737257900101,0.00206262742099898 Region score:0.45; TSS score:0.51; Unmatched score:0.61; Average GERP:0.04092 GeneName:COG6; CADD-Score:2; Consquence:3_prime_UTR; GeneID:ENSG00000133103; TranscriptID:ENST00000416691; AnnoType:3PRIME_UTR; mirSVR-Score:-0.0958; mirSVR-E:-17.67 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000479418; AnnoType:REGULATORY; mirSVR-Score:-0.0958; mirSVR-E:-17.67 | GeneName:RNY4P14; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000200526; TranscriptID:ENST00000363656; AnnoType:UPSTREAM; mirSVR-Score:-0.0958; mirSVR-E:-17.67 | NCRV0000004199 21849855 miR-101 Deletion del Dominant 1,236 lung cancer specimens and 20 lung carcinoma in situ samples EFO_0003060 N/A increasing risk non-small cell lung carcinoma Deletion-del of hsa-mir-101-1 and its dysfunction is significantly associated with the increasing risk of Non-small cell lung carcinoma by using analysis of sequence variation in 1,236 lung cancer specimens and 20 lung carcinoma in situ samples 0.9 miR-101 DNA copy loss is a prominent subtype specific event in lung cancer. analysis of sequence variation hsa-mir-101-1 miRNA Non-small cell lung carcinoma 0.593 - - - - - - NCRV0000004200 31176032 miR-100 rs1834306 T Dominant 100 HBV infected patients and 100 age-and-sex-matched healthy individuals EFO_0004197 N/A increasing risk hepatitis B virus infection rs1834306-T of hsa-mir-100 and its dysfunction is significantly associated with the increasing risk of Hepatitis b infection by using two-stage association study in 100 HBV infected patients and 100 age-and-sex-matched healthy individuals 0.4 Genetic variation in microRNA-100 (miR-100) rs1834306 T/C associated with Hepatitis B virus (HBV) infection: Correlation with expression level. two-stage association study hsa-mir-100 miRNA Hepatitis b infection 0.33 GTTCTCCCCA(A > G)CGTGCTTCCC chr11: 122152479 0.5471,0.4529 0.52398700305810397,0.47601299694189602 Region score:0.42; TSS score:0.47; Unmatched score:0.58; Average GERP:-2.193261089108911 GeneName:MIR100; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000207994; TranscriptID:ENST00000385259; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR100HG; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000255248; TranscriptID:ENST00000534782; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004201 30980423 HOXC13-AS rs1867299 ? N/A 1294 cases with NSCLC and 1729 healthy controls EFO_0003060 N/A no significance for risk non-small cell lung carcinoma rs1867299-? of HOXC13-AS and its dysfunction is not significantly associated with Non-small cell lung carcinoma by using two-stage association study in 1294 cases with NSCLC and 1729 healthy controls -0.4 SNPs in LncRNA genes are associated with non-small cell lung cancer in a Chinese population. two-stage association study HOXC13-AS lncRNA Non-small cell lung carcinoma -0.33 AGGGAATTGT(T > A,C,G)TCAGAGCAAG chr12:53936191 0.4611,0.5389 0.40630574668705402,0.59369425331294597 Region score:0.42;TSS score:0.48;Unmatched score:0.74;Average GERP:-1.78 GeneName:HOXC13; CADD_score:1; Consquence:upstream; GeneID:ENSG00000123364; TranscriptID:ENST00000243056; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC13-AS; CADD_score:5; Consquence:noncoding_change; GeneID:ENSG00000249641; TranscriptID:ENST00000512916; AnnoType:NonCodingTranscript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004202 31045514 HOTAIR rs4759314 ? N/A 98 patients receiving different regimens of irinotecan-based therapy EFO_0005842 N/A no significance for risk colorectal cancer rs4759314-? of HOTAIR and its dysfunction is not significantly associated with Colorectal cancer by using two-stage association study in 98 patients receiving different regimens of irinotecan-based therapy -0.4 Long non-coding RNA polymorphisms and prediction of response to chemotherapy based on irinotecan in patients with metastatic colorectal cancer. two-stage association study HOTAIR lncRNA Colorectal cancer -0.33 AAACAGGCCA(G > A)GCGGATGCAA chr12: 53968051 0.09505,0.905 0.06856046126401630,0.93143953873598369 Region score:0.43; TSS score:0.68; Unmatched score:0.83; Average GERP:2.8445544554455457 GeneName:AC012531.4; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000274817; TranscriptID:ENST00000616509; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC012531.5; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277129; TranscriptID:ENST00000611375; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOTAIR; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000228630; TranscriptID:ENST00000424518; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000458643; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01905; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000275589; TranscriptID:ENST00000611210; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01906; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000277994; TranscriptID:ENST00000611352; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004203 30556621 HOTAIR rs17105613 ? N/A 1262 cases and 1559 controls EFO_0000182 N/A no significance for risk hepatocellular carcinoma rs17105613-? of HOTAIR and its dysfunction is not significantly associated with Hepatocellular carcinoma by using two-stage association study in 1262 cases and 1559 controls -0.4 SNP-SNP and SNP-environment interactions of potentially functional HOTAIR SNPs modify the risk of hepatocellular carcinoma. two-stage association study HOTAIR lncRNA Hepatocellular carcinoma -0.33 GACAATAGAT(T > C)GGCTGTTTAT chr12:53968410 0.6512,0.3488 0.63318679918450560,0.36681320081549439 Region score:0.31;TSS score:0.48;Unmatched score:0.77;Average GERP:2.4065 GeneName:AC012531.4; CADD_score:1; Consquence:downstream; GeneID:ENSG00000274817; TranscriptID:ENST00000616509; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01905; CADD_score:1; Consquence:downstream; GeneID:ENSG00000275589; TranscriptID:ENST00000611210; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01906; CADD_score:1; Consquence:downstream; GeneID:ENSG00000277994; TranscriptID:ENST00000611352; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC11; CADD_score:1; Consquence:upstream; GeneID:ENSG00000123388; TranscriptID:ENST00000546378; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC012531.5; CADD_score:5; Consquence:noncoding_change; GeneID:ENSG00000277129; TranscriptID:ENST00000611375; AnnoType:NonCodingTranscript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD_score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000458643; AnnoType:RegulatoryFeature; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOTAIR; CADD_score:2; Consquence:intronic; GeneID:ENSG00000228630; TranscriptID:ENST00000424518; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004204 30556621 HOTAIR rs12427129 T Dominant 1262 cases and 1559 controls EFO_0000182 N/A decreasing risk hepatocellular carcinoma rs12427129-T of HOTAIR and its dysfunction is significantly associated with the decreasing risk of Hepatocellular carcinoma by using two-stage association study in 1262 cases and 1559 controls 0.4 SNP-SNP and SNP-environment interactions of potentially functional HOTAIR SNPs modify the risk of hepatocellular carcinoma. two-stage association study HOTAIR lncRNA Hepatocellular carcinoma 0.33 AGGAGCCGGC(C > T)CAAAGGAGCC chr12:53973906 0.9345,0.0655 0.93067501274209989,0.06932498725790010 Region score:0.47;TSS score:0.56;Unmatched score:0.9;Average GERP:3.23 GeneName:HOXC11; CADD_score:7; Consquence:non_synonymous; GeneID:ENSG00000123388; TranscriptID:ENST00000546378; AnnoType:CodingTranscript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD_score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000052266; AnnoType:RegulatoryFeature; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOTAIR; CADD_score:2; Consquence:intronic; GeneID:ENSG00000228630; TranscriptID:ENST00000424518; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004205 30556621 HOTAIR rs3816153 T Dominant 1262 cases and 1559 controls EFO_0000182 N/A increasing risk hepatocellular carcinoma rs3816153-T of HOTAIR and its dysfunction is significantly associated with the increasing risk of Hepatocellular carcinoma by using two-stage association study in 1262 cases and 1559 controls 0.4 SNP-SNP and SNP-environment interactions of potentially functional HOTAIR SNPs modify the risk of hepatocellular carcinoma. two-stage association study HOTAIR lncRNA Hepatocellular carcinoma 0.33 CGTGAGTGCG(G > T)TGTGTACATG chr12:53976324 0.7372,0.2628 0.71932339449541284,0.28067660550458715 Region score:0.51;TSS score:0.72;Unmatched score:0.94;Average GERP:3.66 GeneName:HOTAIR; CADD_score:1; Consquence:upstream; GeneID:ENSG00000228630; TranscriptID:ENST00000424518; AnnoType:Intergenic; mirSVR-Score:-0.1021; mirSVR-E:-16 | GeneName:NA; CADD_score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000458647; AnnoType:RegulatoryFeature; mirSVR-Score:-0.1021; mirSVR-E:-16 | GeneName:HOXC11; CADD_score:2; Consquence:3prime_utr; GeneID:ENSG00000123388; TranscriptID:ENST00000546378; AnnoType:Transcript; mirSVR-Score:-0.1021; mirSVR-E:-16 | NCRV0000004206 31188529 HOTAIR rs12826786 ? N/A 203 preeclamptic and 202 nonpreeclamptic pregnant women as well as the placentas of 87 of preeclamptic and 95 nonpreeclamptic pregnant women EFO_0000668 N/A no significance for risk preeclampsia rs12826786-? of HOTAIR and its dysfunction is not significantly associated with Preeclampsia by using two-stage association study in 203 preeclamptic and 202 nonpreeclamptic pregnant women as well as the placentas of 87 of preeclamptic and 95 nonpreeclamptic pregnant women -0.4 Impact of HOTAIR variants on preeclampsia susceptibility based on blood and placenta and in silico analysis. two-stage association study HOTAIR lncRNA Preeclampsia -0.33 GTGAATTAGA(C > T)CTTTATCCTA chr12: 53961717 0.6424,0.3576 0.62241176095820591,0.37758823904179408 Region score:0.26; TSS score:0.59; Unmatched score:0.66; Average GERP:-0.08039504950495045 GeneName:HOTAIR; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000228630; TranscriptID:ENST00000424518; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC12; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000123407; TranscriptID:ENST00000243103; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000052264; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000458640; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01905; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000275589; TranscriptID:ENST00000611210; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01906; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277994; TranscriptID:ENST00000611352; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004207 31188529 HOTAIR rs920778 ? N/A 203 preeclamptic and 202 nonpreeclamptic pregnant women as well as the placentas of 87 of preeclamptic and 95 nonpreeclamptic pregnant women EFO_0000668 N/A no significance for risk preeclampsia rs920778-? of HOTAIR and its dysfunction is not significantly associated with Preeclampsia by using two-stage association study in 203 preeclamptic and 202 nonpreeclamptic pregnant women as well as the placentas of 87 of preeclamptic and 95 nonpreeclamptic pregnant women -0.4 Impact of HOTAIR variants on preeclampsia susceptibility based on blood and placenta and in silico analysis. two-stage association study HOTAIR lncRNA Preeclampsia -0.33 TGAATGTTAC(G > A)GTTTCCTTCA chr12: 53966448 0.4401,0.5599 0.43194922273190621,0.56805077726809378 Region score:0.25; TSS score:0.53; Unmatched score:0.76; Average GERP:2.310435643564358 GeneName:AC012531.4; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000274817; TranscriptID:ENST00000616509; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC012531.5; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277129; TranscriptID:ENST00000611375; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOTAIR; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000228630; TranscriptID:ENST00000424518; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000458643; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01905; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000275589; TranscriptID:ENST00000611210; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01906; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000277994; TranscriptID:ENST00000611352; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004208 31188529 HOTAIR rs1899663 ? N/A 203 preeclamptic and 202 nonpreeclamptic pregnant women as well as the placentas of 87 of preeclamptic and 95 nonpreeclamptic pregnant women EFO_0000668 N/A no significance for risk preeclampsia rs1899663-? of HOTAIR and its dysfunction is not significantly associated with Preeclampsia by using two-stage association study in 203 preeclamptic and 202 nonpreeclamptic pregnant women as well as the placentas of 87 of preeclamptic and 95 nonpreeclamptic pregnant women -0.4 Impact of HOTAIR variants on preeclampsia susceptibility based on blood and placenta and in silico analysis. two-stage association study HOTAIR lncRNA Preeclampsia -0.33 TTGTTGTCAC(C > A)TCCACCCTCC chr12: 53967210 0.7462,0.2538 0.72418132008154943,0.27581867991845056 Region score:0.22; TSS score:0.34; Unmatched score:0.86; Average GERP:-0.48725445544554463 GeneName:AC012531.4; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000274817; TranscriptID:ENST00000616509; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC012531.5; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277129; TranscriptID:ENST00000611375; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOTAIR; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000228630; TranscriptID:ENST00000424518; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000458643; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01905; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000275589; TranscriptID:ENST00000611210; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01906; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000277994; TranscriptID:ENST00000611352; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004209 31188529 HOTAIR rs4759314 G Dominant 203 preeclamptic and 202 nonpreeclamptic pregnant women as well as the placentas of 87 of preeclamptic and 95 nonpreeclamptic pregnant women EFO_0000668 N/A increasing risk preeclampsia rs4759314-G of HOTAIR and its dysfunction is significantly associated with the increasing risk of Preeclampsia by using two-stage association study in 203 preeclamptic and 202 nonpreeclamptic pregnant women as well as the placentas of 87 of preeclamptic and 95 nonpreeclamptic pregnant women 0.4 Impact of HOTAIR variants on preeclampsia susceptibility based on blood and placenta and in silico analysis. two-stage association study HOTAIR lncRNA Preeclampsia 0.33 AAACAGGCCA(G > A)GCGGATGCAA chr12: 53968051 0.09505,0.905 0.06856046126401630,0.93143953873598369 Region score:0.43; TSS score:0.68; Unmatched score:0.83; Average GERP:2.8445544554455457 GeneName:AC012531.4; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000274817; TranscriptID:ENST00000616509; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC012531.5; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000277129; TranscriptID:ENST00000611375; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOTAIR; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000228630; TranscriptID:ENST00000424518; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000458643; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01905; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000275589; TranscriptID:ENST00000611210; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01906; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000277994; TranscriptID:ENST00000611352; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004210 31188529 HOTAIR rs10783618 T recessive 203 preeclamptic and 202 nonpreeclamptic pregnant women as well as the placentas of 87 of preeclamptic and 95 nonpreeclamptic pregnant women EFO_0000668 N/A increasing risk preeclampsia rs10783618-T of HOTAIR and its dysfunction is significantly associated with the increasing risk of Preeclampsia by using two-stage association study in 203 preeclamptic and 202 nonpreeclamptic pregnant women as well as the placentas of 87 of preeclamptic and 95 nonpreeclamptic pregnant women 0.4 Impact of HOTAIR variants on preeclampsia susceptibility based on blood and placenta and in silico analysis. two-stage association study HOTAIR lncRNA Preeclampsia 0.33 CTCCTTATCT(T > A,C)GGTTTGGGAG chr12:53971491 0.5004,0.4996 0.49804090214067278,0.50195909785932721 Region score:0.4;TSS score:0.45;Unmatched score:0.48;Average GERP:4.25 GeneName:AC012531.4; CADD_score:1; Consquence:DOWNSTREAM; GeneID:ENSG00000274817; TranscriptID:ENST00000616509; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC012531.5; CADD_score:1; Consquence:DOWNSTREAM; GeneID:ENSG00000277129; TranscriptID:ENST00000611375; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC11; CADD_score:1; Consquence:UPSTREAM; GeneID:ENSG00000123388; TranscriptID:ENST00000546378; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOTAIR; CADD_score:2; Consquence:INTRONIC; GeneID:ENSG00000228630; TranscriptID:ENST00000424518; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC012531.4; CADD_score:1; Consquence:DOWNSTREAM; GeneID:ENSG00000274817; TranscriptID:ENST00000616509; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AC012531.5; CADD_score:1; Consquence:DOWNSTREAM; GeneID:ENSG00000277129; TranscriptID:ENST00000611375; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOXC11; CADD_score:1; Consquence:UPSTREAM; GeneID:ENSG00000123388; TranscriptID:ENST00000546378; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:HOTAIR; CADD_score:2; Consquence:INTRONIC; GeneID:ENSG00000228630; TranscriptID:ENST00000424518; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004211 31747682 lnc-MICB-3:1 Rs2284178 T N/A 1500 VKH patients and 3000 unrelated healthy controls Orphanet_3437 N/A increasing risk Vogt-Koyanagi-Harada disease Rs2284178-T of HCP5 and its dysfunction is significantly associated with the increasing risk of Vogt-koyanagi-harada disease by using two-stage association study in 1500 VKH patients and 3000 unrelated healthy controls 0.4 Replication of Genome-Wide Association Analysis Identifies New Susceptibility Loci at Long Noncoding RNA Regions for Vogt-Koyanagi-Harada Disease. two-stage association study HCP5 lncRNA Vogt-koyanagi-harada disease 0.33 TCTTTATGGC(C > G,T)CAGCAGCCCT chr6:31464348 0.531,0.469 0.54893762742099898,0.45106237257900101 - GeneName:AL645933.1; CADD_score:1; Consquence:UPSTREAM; GeneID:ENSG00000233902; TranscriptID:ENST00000440087; AnnoType:Intergenic; mirSVR-Score:-0.1240; mirSVR-E:-19.23 | GeneName:HCP5; CADD_score:5; Consquence:NONCODING_CHANGE; GeneID:ENSG00000206337; TranscriptID:ENST00000414046; AnnoType:NonCodingTranscript; mirSVR-Score:-0.1240; mirSVR-E:-19.23 | GeneName:NA; CADD_score:4; Consquence:REGULATORY; GeneID:NA; TranscriptID:ENSR00000195544; AnnoType:RegulatoryFeature; mirSVR-Score:-0.1240; mirSVR-E:-19.23 | GeneName:AL645933.1; CADD_score:1; Consquence:UPSTREAM; GeneID:ENSG00000233902; TranscriptID:ENST00000440087; AnnoType:Intergenic; mirSVR-Score:-0.1240; mirSVR-E:-19.23 | GeneName:HCP5; CADD_score:5; Consquence:NONCODING_CHANGE; GeneID:ENSG00000206337; TranscriptID:ENST00000414046; AnnoType:NonCodingTranscript; mirSVR-Score:-0.1240; mirSVR-E:-19.23 | GeneName:NA; CADD_score:4; Consquence:REGULATORY; GeneID:NA; TranscriptID:ENSR00000195544; AnnoType:RegulatoryFeature; mirSVR-Score:-0.1240; mirSVR-E:-19.23 | NCRV0000004212 29198823 miR-184 chr15:79502186 T dominant primary human and mouse keratinocytes EFO_0009464 N/A increasing risk corneal disease chr15:79502186-T of has-mir-184 and its dysfunction is significantly associated with the increasing risk of Corneal disease by using analysis of sequence variation in primary human and mouse keratinocytes 2 microRNA-184 Induces a Commitment Switch to Epidermal Differentiation. analysis of sequence variation has-mir-184 miRNA Corneal disease 0.865 AAGTGTTGGA(C > T)GGAGAACTGA chr15:79502186 - - - GeneName:RP11-17L5.4; CADD_Score:1; Consquence:downstream; GeneID:ENSG00000259234; TranscriptID:ENST00000560533; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR184; CADD_Score:5; Consquence:noncoding_change; GeneID:ENSG00000207695; TranscriptID:ENST00000384962; AnnoType:NonCodingTranscript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD_Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000278515; AnnoType:RegulatoryFeature; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD_Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00001095367; AnnoType:RegulatoryFeature; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004213 30305120 H19 rs217727 T recessive 567 IS patients and 552 control subjects HP_0002140 N/A increasing risk Ischemic stroke rs217727-T of H19 and its dysfunction is significantly associated with the increasing risk of Ischemic stroke by using two-stage association study in 567 IS patients and 552 control subjects 0.4 Long non-coding RNA H19 and MALAT1 gene variants in patients with ischemic stroke in a northern Chinese Han population. two-stage association study H19 lncRNA Ischemic stroke 0.33 TCAACCGTCC(G > A)CCGCAGGGGG chr11: 1995678 0.7979,0.2021 1 Region score:0.7; TSS score:0.82; Unmatched score:0.94; Average GERP:-0.47433900495049497 GeneName:H19; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000130600; TranscriptID:ENST00000414790; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.5598; mirSVR-E:-26.23 | GeneName:LINC01219; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000232987; TranscriptID:ENST00000418612; AnnoType:DOWNSTREAM; mirSVR-Score:-0.5598; mirSVR-E:-26.23 | GeneName:MIR675; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000284010; TranscriptID:ENST00000390168; AnnoType:DOWNSTREAM; mirSVR-Score:-0.5598; mirSVR-E:-26.23 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000035875; AnnoType:REGULATORY; mirSVR-Score:-0.5598; mirSVR-E:-26.23 | GeneName:RF01972; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000275266; TranscriptID:ENST00000617997; AnnoType:UPSTREAM; mirSVR-Score:-0.5598; mirSVR-E:-26.23 | GeneName:RF01973; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000274866; TranscriptID:ENST00000620857; AnnoType:UPSTREAM; mirSVR-Score:-0.5598; mirSVR-E:-26.23 | NCRV0000004214 30305120 H19 rs2251375 ? N/A 567 IS patients and 552 control subjects HP_0002140 N/A no significance for risk Ischemic stroke rs2251375-? of H19 and its dysfunction is not significantly associated with Ischemic stroke by using two-stage association study in 567 IS patients and 552 control subjects -0.4 Long non-coding RNA H19 and MALAT1 gene variants in patients with ischemic stroke in a northern Chinese Han population. two-stage association study H19 lncRNA Ischemic stroke -0.33 CGGCTCAGAC(C > A,T)CTCACGTTCC chr11:1998266 0.5194,0.4806 0 Region score:0.25;TSS score:0.56;Unmatched score:0.79;Average GERP:1.015 GeneName:LINC01219; CADD_score:1; Consquence:DOWNSTREAM; GeneID:ENSG00000232987; TranscriptID:ENST00000418612; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01973; CADD_score:1; Consquence:DOWNSTREAM; GeneID:ENSG00000274866; TranscriptID:ENST00000620857; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01972; CADD_score:1; Consquence:DOWNSTREAM; GeneID:ENSG00000275266; TranscriptID:ENST00000617997; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:H19; CADD_score:1; Consquence:UPSTREAM; GeneID:ENSG00000130600; TranscriptID:ENST00000414790; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR675; CADD_score:1; Consquence:UPSTREAM; GeneID:ENSG00000284010; TranscriptID:ENST00000390168; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD_score:4; Consquence:REGULATORY; GeneID:NA; TranscriptID:ENSR00000035875; AnnoType:RegulatoryFeature; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD_score:4; Consquence:REGULATORY; GeneID:NA; TranscriptID:ENSR00000262400; AnnoType:RegulatoryFeature; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LINC01219; CADD_score:1; Consquence:DOWNSTREAM; GeneID:ENSG00000232987; TranscriptID:ENST00000418612; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01973; CADD_score:1; Consquence:DOWNSTREAM; GeneID:ENSG00000274866; TranscriptID:ENST00000620857; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01972; CADD_score:1; Consquence:DOWNSTREAM; GeneID:ENSG00000275266; TranscriptID:ENST00000617997; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:H19; CADD_score:1; Consquence:UPSTREAM; GeneID:ENSG00000130600; TranscriptID:ENST00000414790; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR675; CADD_score:1; Consquence:UPSTREAM; GeneID:ENSG00000284010; TranscriptID:ENST00000390168; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD_score:4; Consquence:REGULATORY; GeneID:NA; TranscriptID:ENSR00000035875; AnnoType:RegulatoryFeature; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD_score:4; Consquence:REGULATORY; GeneID:NA; TranscriptID:ENSR00000262400; AnnoType:RegulatoryFeature; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004215 31277475 H19 rs217727 T N/A 359 HCC patients and 1190 cancer-free subjects EFO_0000182 N/A no significance for risk hepatocellular carcinoma rs217727-T of H19 and its dysfunction is not significantly associated with Hepatocellular carcinoma by using two-stage association study in 359 HCC patients and 1190 cancer-free subjects -0.4 Association of lncRNA H19 Gene Polymorphisms with the Occurrence of Hepatocellular Carcinoma. two-stage association study H19 lncRNA Hepatocellular carcinoma -0.33 TCAACCGTCC(G > A)CCGCAGGGGG chr11: 1995678 0.7979,0.2021 1 Region score:0.7; TSS score:0.82; Unmatched score:0.94; Average GERP:-0.47433900495049497 GeneName:H19; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000130600; TranscriptID:ENST00000414790; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.5598; mirSVR-E:-26.23 | GeneName:LINC01219; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000232987; TranscriptID:ENST00000418612; AnnoType:DOWNSTREAM; mirSVR-Score:-0.5598; mirSVR-E:-26.23 | GeneName:MIR675; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000284010; TranscriptID:ENST00000390168; AnnoType:DOWNSTREAM; mirSVR-Score:-0.5598; mirSVR-E:-26.23 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000035875; AnnoType:REGULATORY; mirSVR-Score:-0.5598; mirSVR-E:-26.23 | GeneName:RF01972; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000275266; TranscriptID:ENST00000617997; AnnoType:UPSTREAM; mirSVR-Score:-0.5598; mirSVR-E:-26.23 | GeneName:RF01973; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000274866; TranscriptID:ENST00000620857; AnnoType:UPSTREAM; mirSVR-Score:-0.5598; mirSVR-E:-26.23 | NCRV0000004216 31277475 H19 rs2107425 T recessive 359 HCC patients and 1190 cancer-free subjects EFO_0000182 N/A decreasing risk hepatocellular carcinoma rs2107425-T of H19 and its dysfunction is significantly associated with the decreasing risk of Hepatocellular carcinoma by using two-stage association study in 359 HCC patients and 1190 cancer-free subjects 0.4 Association of lncRNA H19 Gene Polymorphisms with the Occurrence of Hepatocellular Carcinoma. two-stage association study H19 lncRNA Hepatocellular carcinoma 0.33 GTGCGGCTCC(C > T)ATGAGTGTCC chr11: 1999845 0.5521,0.4479 1 Region score:0.26; TSS score:0.41; Unmatched score:0.34; Average GERP:-1.0068415841584155 GeneName:H19; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000130600; TranscriptID:ENST00000414790; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR675; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284010; TranscriptID:ENST00000390168; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000262400; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000421501; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01972; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000275266; TranscriptID:ENST00000617997; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01973; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000274866; TranscriptID:ENST00000620857; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004217 31277475 H19 rs2839698 T N/A 359 HCC patients and 1190 cancer-free subjects EFO_0000182 N/A increasing risk hepatocellular carcinoma rs2839698-T of H19 and its dysfunction is significantly associated with the increasing risk of Hepatocellular carcinoma by using two-stage association study in 359 HCC patients and 1190 cancer-free subjects 0.4 Association of lncRNA H19 Gene Polymorphisms with the Occurrence of Hepatocellular Carcinoma. two-stage association study H19 lncRNA Hepatocellular carcinoma 0.33 ATGCCTGGGC(G > A)CCTACTCCAC chr11: 1997623 0.7071,0.2929 1 Region score:0.36; TSS score:0.46; Unmatched score:0.85; Average GERP:-0.6805287128712875 GeneName:H19; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000130600; TranscriptID:ENST00000414790; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LINC01219; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000232987; TranscriptID:ENST00000418612; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR675; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284010; TranscriptID:ENST00000390168; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000035875; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01972; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000275266; TranscriptID:ENST00000617997; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01973; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000274866; TranscriptID:ENST00000620857; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004218 31277475 H19 rs3024270 G Dominant 359 HCC patients and 1190 cancer-free subjects EFO_0000182 N/A poor prognosis hepatocellular carcinoma rs3024270-G of H19 and its dysfunction is significantly associated with the poor prognosis of Hepatocellular carcinoma by using two-stage association study in 359 HCC patients and 1190 cancer-free subjects 0.4 Association of lncRNA H19 Gene Polymorphisms with the Occurrence of Hepatocellular Carcinoma. two-stage association study H19 lncRNA Hepatocellular carcinoma 0.33 AGACAGAGGT(C > G,T)GGGGCAGTGA chr11: 1996209 0.6346,0.3654,. 1 Region score:0.33; TSS score:0.35; Unmatched score:0.77; Average GERP:-1.5973762376237624 GeneName:H19; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000130600; TranscriptID:ENST00000414790; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LINC01219; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000232987; TranscriptID:ENST00000418612; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR675; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000284010; TranscriptID:ENST00000390168; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000035875; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01972; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000275266; TranscriptID:ENST00000617997; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01973; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000274866; TranscriptID:ENST00000620857; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004219 31277475 H19 rs3741219 G N/A 359 HCC patients and 1190 cancer-free subjects EFO_0000182 N/A increasing risk hepatocellular carcinoma rs3741219-G of H19 and its dysfunction is significantly associated with the increasing risk of Hepatocellular carcinoma by using two-stage association study in 359 HCC patients and 1190 cancer-free subjects 0.4 Association of lncRNA H19 Gene Polymorphisms with the Occurrence of Hepatocellular Carcinoma. two-stage association study H19 lncRNA Hepatocellular carcinoma 0.33 CGGGCCCTGC(A > G)CAGGCACTTG chr11: 1995389 0.7017,0.2983 1 Region score:0.25; TSS score:0.5; Unmatched score:0.82; Average GERP:-0.5433396039603959 GeneName:H19; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000130600; TranscriptID:ENST00000414790; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0189; mirSVR-E:-21.99 | GeneName:LINC01219; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000232987; TranscriptID:ENST00000418612; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0189; mirSVR-E:-21.99 | GeneName:MIR675; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000284010; TranscriptID:ENST00000390168; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0189; mirSVR-E:-21.99 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000035875; AnnoType:REGULATORY; mirSVR-Score:-0.0189; mirSVR-E:-21.99 | GeneName:RF01972; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000275266; TranscriptID:ENST00000617997; AnnoType:UPSTREAM; mirSVR-Score:-0.0189; mirSVR-E:-21.99 | GeneName:RF01973; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000274866; TranscriptID:ENST00000620857; AnnoType:UPSTREAM; mirSVR-Score:-0.0189; mirSVR-E:-21.99 | NCRV0000004220 30485527 H19 rs3741219 C N/A 150 BC patients and 100 cancer-free subjects EFO_0000305 N/A no significance for risk breast carcinoma rs3741219-C of H19 and its dysfunction is not significantly associated with Breast carcinoma by using two-stage association study in 150 BC patients and 100 cancer-free subjects -0.4 Association of the study between LncRNA-H19 gene polymorphisms with the risk of breast cancer. two-stage association study H19 lncRNA Breast carcinoma -0.33 CGGGCCCTGC(A > G)CAGGCACTTG chr11: 1995389 0.7017,0.2983 1 Region score:0.25; TSS score:0.5; Unmatched score:0.82; Average GERP:-0.5433396039603959 GeneName:H19; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000130600; TranscriptID:ENST00000414790; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.0189; mirSVR-E:-21.99 | GeneName:LINC01219; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000232987; TranscriptID:ENST00000418612; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0189; mirSVR-E:-21.99 | GeneName:MIR675; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000284010; TranscriptID:ENST00000390168; AnnoType:DOWNSTREAM; mirSVR-Score:-0.0189; mirSVR-E:-21.99 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000035875; AnnoType:REGULATORY; mirSVR-Score:-0.0189; mirSVR-E:-21.99 | GeneName:RF01972; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000275266; TranscriptID:ENST00000617997; AnnoType:UPSTREAM; mirSVR-Score:-0.0189; mirSVR-E:-21.99 | GeneName:RF01973; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000274866; TranscriptID:ENST00000620857; AnnoType:UPSTREAM; mirSVR-Score:-0.0189; mirSVR-E:-21.99 | NCRV0000004221 30485527 H19 rs217727 T N/A 150 BC patients and 100 cancer-free subjects EFO_0000305 N/A no significance for risk breast carcinoma rs217727-T of H19 and its dysfunction is not significantly associated with Breast carcinoma by using two-stage association study in 150 BC patients and 100 cancer-free subjects -0.4 Association of the study between LncRNA-H19 gene polymorphisms with the risk of breast cancer. two-stage association study H19 lncRNA Breast carcinoma -0.33 TCAACCGTCC(G > A)CCGCAGGGGG chr11: 1995678 0.7979,0.2021 1 Region score:0.7; TSS score:0.82; Unmatched score:0.94; Average GERP:-0.47433900495049497 GeneName:H19; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000130600; TranscriptID:ENST00000414790; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.5598; mirSVR-E:-26.23 | GeneName:LINC01219; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000232987; TranscriptID:ENST00000418612; AnnoType:DOWNSTREAM; mirSVR-Score:-0.5598; mirSVR-E:-26.23 | GeneName:MIR675; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000284010; TranscriptID:ENST00000390168; AnnoType:DOWNSTREAM; mirSVR-Score:-0.5598; mirSVR-E:-26.23 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000035875; AnnoType:REGULATORY; mirSVR-Score:-0.5598; mirSVR-E:-26.23 | GeneName:RF01972; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000275266; TranscriptID:ENST00000617997; AnnoType:UPSTREAM; mirSVR-Score:-0.5598; mirSVR-E:-26.23 | GeneName:RF01973; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000274866; TranscriptID:ENST00000620857; AnnoType:UPSTREAM; mirSVR-Score:-0.5598; mirSVR-E:-26.23 | NCRV0000004222 30890582 H19 rs2839698 A N/A Three hundred ninety-three neuroblastoma patients and 812 healthy controls EFO_0000621 N/A no significance for risk neuroblastoma rs2839698-A of H19 and its dysfunction is not significantly associated with Neuroblastoma by using two-stage association study in Three hundred ninety-three neuroblastoma patients and 812 healthy controls -0.4 Associations between H19 polymorphisms and neuroblastoma risk in Chinese children. two-stage association study H19 lncRNA Neuroblastoma -0.33 ATGCCTGGGC(G > A)CCTACTCCAC chr11: 1997623 0.7071,0.2929 1 Region score:0.36; TSS score:0.46; Unmatched score:0.85; Average GERP:-0.6805287128712875 GeneName:H19; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000130600; TranscriptID:ENST00000414790; AnnoType:NONCODING_CHANGE; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LINC01219; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000232987; TranscriptID:ENST00000418612; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR675; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000284010; TranscriptID:ENST00000390168; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000035875; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01972; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000275266; TranscriptID:ENST00000617997; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01973; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000274866; TranscriptID:ENST00000620857; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004223 30890582 H19 rs3024270 G N/A Three hundred ninety-three neuroblastoma patients and 812 healthy controls EFO_0000621 N/A increasing risk neuroblastoma rs3024270-G of H19 and its dysfunction is significantly associated with the increasing risk of Neuroblastoma by using two-stage association study in Three hundred ninety-three neuroblastoma patients and 812 healthy controls 0.4 Associations between H19 polymorphisms and neuroblastoma risk in Chinese children. two-stage association study H19 lncRNA Neuroblastoma 0 AGACAGAGGT(C > G,T)GGGGCAGTGA chr11: 1996209 0.6346,0.3654,. 1 Region score:0.33; TSS score:0.35; Unmatched score:0.77; Average GERP:-1.5973762376237624 GeneName:H19; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000130600; TranscriptID:ENST00000414790; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LINC01219; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000232987; TranscriptID:ENST00000418612; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR675; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000284010; TranscriptID:ENST00000390168; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000035875; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01972; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000275266; TranscriptID:ENST00000617997; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01973; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000274866; TranscriptID:ENST00000620857; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004223 30890582 H19 rs3024270 G N/A Three hundred ninety-three neuroblastoma patients and 812 healthy controls EFO_0000621 N/A no significance for risk neuroblastoma rs3024270-G of H19 and its dysfunction is not significantly associated with Neuroblastoma by using two-stage association study in Three hundred ninety-three neuroblastoma patients and 812 healthy controls -0.4 Associations between H19 polymorphisms and neuroblastoma risk in Chinese children. two-stage association study H19 lncRNA Neuroblastoma 0 AGACAGAGGT(C > G,T)GGGGCAGTGA chr11: 1996209 0.6346,0.3654,. 1 Region score:0.33; TSS score:0.35; Unmatched score:0.77; Average GERP:-1.5973762376237624 GeneName:H19; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000130600; TranscriptID:ENST00000414790; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | GeneName:LINC01219; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000232987; TranscriptID:ENST00000418612; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:MIR675; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000284010; TranscriptID:ENST00000390168; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000035875; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01972; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000275266; TranscriptID:ENST00000617997; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:RF01973; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000274866; TranscriptID:ENST00000620857; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004224 30890582 H19 rs217727 A N/A Three hundred ninety-three neuroblastoma patients and 812 healthy controls EFO_0000621 N/A no significance for risk neuroblastoma rs217727-A of H19 and its dysfunction is not significantly associated with Neuroblastoma by using two-stage association study in Three hundred ninety-three neuroblastoma patients and 812 healthy controls -0.4 Associations between H19 polymorphisms and neuroblastoma risk in Chinese children. two-stage association study H19 lncRNA Neuroblastoma -0.33 TCAACCGTCC(G > A)CCGCAGGGGG chr11: 1995678 0.7979,0.2021 1 Region score:0.7; TSS score:0.82; Unmatched score:0.94; Average GERP:-0.47433900495049497 GeneName:H19; CADD-Score:5; Consquence:non_coding_exon; GeneID:ENSG00000130600; TranscriptID:ENST00000414790; AnnoType:NONCODING_CHANGE; mirSVR-Score:-0.5598; mirSVR-E:-26.23 | GeneName:LINC01219; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000232987; TranscriptID:ENST00000418612; AnnoType:DOWNSTREAM; mirSVR-Score:-0.5598; mirSVR-E:-26.23 | GeneName:MIR675; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000284010; TranscriptID:ENST00000390168; AnnoType:DOWNSTREAM; mirSVR-Score:-0.5598; mirSVR-E:-26.23 | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000035875; AnnoType:REGULATORY; mirSVR-Score:-0.5598; mirSVR-E:-26.23 | GeneName:RF01972; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000275266; TranscriptID:ENST00000617997; AnnoType:UPSTREAM; mirSVR-Score:-0.5598; mirSVR-E:-26.23 | GeneName:RF01973; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000274866; TranscriptID:ENST00000620857; AnnoType:UPSTREAM; mirSVR-Score:-0.5598; mirSVR-E:-26.23 | NCRV0000004225 30902880 GAS5 rs55829688 T Dominant 1078 CRC patients and 1175 matched healthy controls EFO_0005842 N/A increasing risk colorectal cancer rs55829688-T of GAS5 and its dysfunction is significantly associated with the increasing risk of Colorectal cancer by using two-stage association study in 1078 CRC patients and 1175 matched healthy controls 1.4 Association between polymorphism in the promoter region of lncRNA GAS5 and the risk of colorectal cancer. two-stage association study GAS5 lncRNA Colorectal cancer 0.753 CTCGCCATTG(T > C,G)GGGCAGAGAC chr1: 173868168 0.7929,0.2071,. 0.79178612385321100,0.20820591233435270,0.00000796381243628 Region score:0.5; TSS score:0.37; Unmatched score:0.97; Average GERP:-0.7597489009900987 GeneName:GAS5-AS1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000270084; TranscriptID:ENST00000602767; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GAS5; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000234741; TranscriptID:ENST00000431268; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000015994; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ZBTB37; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000185278; TranscriptID:ENST00000367701; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004226 30790644 GAS5 rs2067079 T recessive 410 MS patients and 400 age and sex-matched healthy subjects EFO_0003885 N/A increasing risk multiple sclerosis rs2067079-T of GAS5 and its dysfunction is significantly associated with the increasing risk of Multiple sclerosis by using two-stage association study in 410 MS patients and 400 age and sex-matched healthy subjects 0.4 GAS5 genomic variants and risk of multiple sclerosis. two-stage association study GAS5 lncRNA Multiple sclerosis 0.33 ACAAGAATCC(C > A,T)GCCATTTATT chr1:173866073 0.8073,0.1927 0.81080370795107033,0.18919629204892966 Region score:0.47;TSS score:0.29;Unmatched score:0.69;Average GERP:1.96515 GeneName:GAS5-AS1; CADD_score:1; Consquence:DOWNSTREAM; GeneID:ENSG00000270084; TranscriptID:ENST00000602767; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ZBTB37; CADD_score:1; Consquence:UPSTREAM; GeneID:ENSG00000185278; TranscriptID:ENST00000367701; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD_score:4; Consquence:REGULATORY; GeneID:NA; TranscriptID:ENSR00000015994; AnnoType:RegulatoryFeature; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GAS5; CADD_score:2; Consquence:INTRONIC; GeneID:ENSG00000234741; TranscriptID:ENST00000431268; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GAS5-AS1; CADD_score:1; Consquence:DOWNSTREAM; GeneID:ENSG00000270084; TranscriptID:ENST00000602767; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ZBTB37; CADD_score:1; Consquence:UPSTREAM; GeneID:ENSG00000185278; TranscriptID:ENST00000367701; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD_score:4; Consquence:REGULATORY; GeneID:NA; TranscriptID:ENSR00000015994; AnnoType:RegulatoryFeature; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GAS5; CADD_score:2; Consquence:INTRONIC; GeneID:ENSG00000234741; TranscriptID:ENST00000431268; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004227 30790644 GAS5 rs6790 ? N/A 410 MS patients and 400 age and sex-matched healthy subjects EFO_0003885 N/A no significance for risk multiple sclerosis rs6790-? of GAS5 and its dysfunction is not significantly associated with Multiple sclerosis by using two-stage association study in 410 MS patients and 400 age and sex-matched healthy subjects -0.4 GAS5 genomic variants and risk of multiple sclerosis. two-stage association study GAS5 lncRNA Multiple sclerosis -0.33 ACAGGAACTG(G > A)TCTTCATGTC chr1:173865494 0.8798,0.1202 0.90214863659531090,0.09785136340468909 Region score:0.36;TSS score:0.17;Unmatched score:0.63;Average GERP:-2.18 GeneName:GAS5-AS1; CADD_score:1; Consquence:downstream; GeneID:ENSG00000270084; TranscriptID:ENST00000602767; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ZBTB37; CADD_score:1; Consquence:upstream; GeneID:ENSG00000185278; TranscriptID:ENST00000367701; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GAS5; CADD_score:5; Consquence:noncoding_change; GeneID:ENSG00000234741; TranscriptID:ENST00000431268; AnnoType:NonCodingTranscript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD_score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000015994; AnnoType:RegulatoryFeature; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004228 30269656 GAS5 rs145204276 del N/A 130 gastric cancer cases and 230 age and sex matched healthy control subjects EFO_0000178 N/A decreasing risk gastric carcinoma rs145204276-del of GAS5 and its dysfunction is significantly associated with the decreasing risk of Gastric carcinoma by using two-stage association study in 130 gastric cancer cases and 230 age and sex matched healthy control subjects 0.9 A functional genetic variant in GAS5 lncRNA (rs145204276) modulates p27(Kip1) expression and confers risk for gastric cancer. two-stage association study GAS5 lncRNA Gastric carcinoma 0.593 GAGGGGGCGC(GAGGCA > G)AGGCAAGGAA chr1: 173868253 0.8798,0.1202 0.90242737003058103,0.09757262996941896 - GeneName:GAS5-AS1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000270084; TranscriptID:ENST00000602767; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:GAS5; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000234741; TranscriptID:ENST00000431268; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD-Score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000015994; AnnoType:REGULATORY; mirSVR-Score:NA; mirSVR-E:NA | GeneName:ZBTB37; CADD-Score:1; Consquence:upstream; GeneID:ENSG00000185278; TranscriptID:ENST00000367701; AnnoType:UPSTREAM; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004229 31173806 CDKN2BAS rs496892 A Dominant 100 PD-CAD patients and 100 controls MONDO_0002635 N/A increasing risk periodontal disease rs496892-A of CDKN3BAS and its dysfunction is significantly associated with the increasing risk of Periodontal disease by using two-stage association study in 100 PD-CAD patients and 100 controls 0.4 Association of CDKN2BAS gene polymorphism with periodontitis and Coronary Artery Disease from South Indian population. two-stage association study CDKN3BAS lncRNA Periodontal disease 0.33 GGGTGCTAGC(C > T)GGATTCAGGG chr9:22024352 0.6713,0.3287 0.61422496177370030,0.38577503822629969 Region score:0.22;TSS score:0.08;Unmatched score:0.1;Average GERP:0.158 GeneName:NA; CADD_score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000877574; AnnoType:RegulatoryFeature; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AL359922.1; CADD_score:2; Consquence:intronic; GeneID:ENSG00000264545; TranscriptID:ENST00000404796; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CDKN2B-AS1; CADD_score:2; Consquence:intronic; GeneID:ENSG00000240498; TranscriptID:ENST00000428597; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004230 31173806 CDKN2BAS rs496892 A Dominant 100 PD-CAD patients and 100 controls EFO_0001645 N/A increasing risk coronary artery disease rs496892-A of CDKN3BAS and its dysfunction is significantly associated with the increasing risk of Coronary heart disease by using two-stage association study in 100 PD-CAD patients and 100 controls 0.4 Association of CDKN2BAS gene polymorphism with periodontitis and Coronary Artery Disease from South Indian population. two-stage association study CDKN3BAS lncRNA Coronary heart disease 0.33 GGGTGCTAGC(C > T)GGATTCAGGG chr9:22024352 0.6713,0.3287 0.61422496177370030,0.38577503822629969 Region score:0.22;TSS score:0.08;Unmatched score:0.1;Average GERP:0.158 GeneName:NA; CADD_score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000877574; AnnoType:RegulatoryFeature; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AL359922.1; CADD_score:2; Consquence:intronic; GeneID:ENSG00000264545; TranscriptID:ENST00000404796; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CDKN2B-AS1; CADD_score:2; Consquence:intronic; GeneID:ENSG00000240498; TranscriptID:ENST00000428597; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004231 31173806 CDKN2BAS rs7865618 G Dominant 100 PD-CAD patients and 100 controls MONDO_0002635 N/A increasing risk periodontal disease rs7865618-G of CDKN3BAS and its dysfunction is significantly associated with the increasing risk of Periodontal disease by using two-stage association study in 100 PD-CAD patients and 100 controls 0.4 Association of CDKN2BAS gene polymorphism with periodontitis and Coronary Artery Disease from South Indian population. two-stage association study CDKN3BAS lncRNA Periodontal disease 0.33 TCTTAAACCG(G > A,C,T)GCATCATGGA chr9:22031006 0.1881,0.8119,. 0.26949541284403669,0.72885607798165137,0.00164850917431192 Region score:0.44;TSS score:0.29;Unmatched score:0.29;Average GERP:2.37 GeneName:NA; CADD_score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000877576; AnnoType:RegulatoryFeature; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AL359922.1; CADD_score:2; Consquence:intronic; GeneID:ENSG00000264545; TranscriptID:ENST00000404796; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CDKN2B-AS1; CADD_score:2; Consquence:intronic; GeneID:ENSG00000240498; TranscriptID:ENST00000428597; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004232 31173806 CDKN2BAS rs7865618 G Dominant 100 PD-CAD patients and 100 controls EFO_0001645 N/A increasing risk coronary artery disease rs7865618-G of CDKN3BAS and its dysfunction is significantly associated with the increasing risk of Coronary heart disease by using two-stage association study in 100 PD-CAD patients and 100 controls 0.4 Association of CDKN2BAS gene polymorphism with periodontitis and Coronary Artery Disease from South Indian population. two-stage association study CDKN3BAS lncRNA Coronary heart disease 0.33 TCTTAAACCG(G > A,C,T)GCATCATGGA chr9:22031006 0.1881,0.8119,. 0.26949541284403669,0.72885607798165137,0.00164850917431192 Region score:0.44;TSS score:0.29;Unmatched score:0.29;Average GERP:2.37 GeneName:NA; CADD_score:4; Consquence:regulatory; GeneID:NA; TranscriptID:ENSR00000877576; AnnoType:RegulatoryFeature; mirSVR-Score:NA; mirSVR-E:NA | GeneName:AL359922.1; CADD_score:2; Consquence:intronic; GeneID:ENSG00000264545; TranscriptID:ENST00000404796; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CDKN2B-AS1; CADD_score:2; Consquence:intronic; GeneID:ENSG00000240498; TranscriptID:ENST00000428597; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004233 31775885 CDKN2B-AS1 rs2151280 C recessive 507 lung cancer patients and 542 healthy individuals EFO_0001071 N/A decreasing risk lung carcinoma rs2151280-C of CDKN2B-AS1 and its dysfunction is significantly associated with the decreasing risk of Lung carcinoma by using two-stage association study in 507 lung cancer patients and 542 healthy individuals 0.4 Association between polymorphism in CDKN2B-AS1 gene and its interaction with smoking on the risk of lung cancer in a Chinese population. two-stage association study CDKN2B-AS1 lncRNA Lung carcinoma 0.33 AGCTTGTTTC(G > A)CTTTTGAGGG chr9: 22034720 0.4623,0.5377 0.54156313710499490,0.45843686289500509 Region score:0.38; TSS score:0.2; Unmatched score:0.07; Average GERP:-0.10339257425742576 GeneName:AL359922.1; CADD-Score:1; Consquence:downstream; GeneID:ENSG00000264545; TranscriptID:ENST00000404796; AnnoType:DOWNSTREAM; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CDKN2B-AS1; CADD-Score:2; Consquence:intron,non_coding; GeneID:ENSG00000240498; TranscriptID:ENST00000428597; AnnoType:INTRONIC; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004234 30980423 BBOX1-AS1 rs10734387 ? N/A 1294 cases with NSCLC and 1729 healthy controls EFO_0003060 N/A no significance for risk non-small cell lung carcinoma rs10734387-? of BBOX1-AS1 and its dysfunction is not significantly associated with Non-small cell lung carcinoma by using two-stage association study in 1294 cases with NSCLC and 1729 healthy controls -0.4 SNPs in LncRNA genes are associated with non-small cell lung cancer in a Chinese population. two-stage association study BBOX1-AS1 lncRNA Non-small cell lung carcinoma -0.33 CAGGAAACAC(C > G,T)ACAATCATGG chr11:27151108 0.1779,.,0.8221 0.18838398318042813,0.02247387869520897,0.78914213812436289 Region score:0.26;TSS score:0.17;Unmatched score:0.2;Average GERP:0.235 GeneName:BBOX1-AS1; CADD_score:5; Consquence:NONCODING_CHANGE; GeneID:ENSG00000254560; TranscriptID:ENST00000530430; AnnoType:NonCodingTranscript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:BBOX1-AS1; CADD_score:5; Consquence:NONCODING_CHANGE; GeneID:ENSG00000254560; TranscriptID:ENST00000530430; AnnoType:NonCodingTranscript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004235 31489712 ANRIL rs2151280 G Dominant 605 patients with glioma and 1300 cancer-free individuals EFO_0005543 N/A increasing risk glioma rs2151280-G of ANRIL and its dysfunction is significantly associated with the increasing risk of Glioma by using two-stage association study in 605 patients with glioma and 1300 cancer-free individuals 0.4 Impact of four lncRNA polymorphisms (rs2151280, rs7763881, rs1136410, and rs3787016) on glioma risk and prognosis: A case-control study. two-stage association study ANRIL lncRNA Glioma 0.33 GCTTGTTTCG(G > A)CTTTTGAGGG chr9:22034720 0.4623,0.5377 0.54156313710499490,0.45843686289500509 Region score:0.38;TSS score:0.2;Unmatched score:0.07;Average GERP:1.699 GeneName:AL359922.1; CADD_score:1; Consquence:downstream; GeneID:ENSG00000264545; TranscriptID:ENST00000404796; AnnoType:Intergenic; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CDKN2B-AS1; CADD_score:2; Consquence:intronic; GeneID:ENSG00000240498; TranscriptID:ENST00000428597; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004236 30898706 ANRIL rs9632884 ? N/A 401 Han Chinese MI patients and 409 controls EFO_0000612 N/A no significance for risk myocardial infarction rs9632884-? of ANRIL and its dysfunction is not significantly associated with Myocardial infarction by using two-stage association study in 401 Han Chinese MI patients and 409 controls -0.4 Association of lncRNA polymorphisms with triglyceride and total cholesterol levels among myocardial infarction patients in Chinese population. two-stage association study ANRIL lncRNA Myocardial infarction 0 TTGATTCACG(G > A,C)AAAGTAAGTT chr9:22072302 0.3049,.,0.6951 0.35318711773700305,.,0.64681288226299694 Region score:0.27;TSS score:0.13;Unmatched score:0.04;Average GERP:0.26 GeneName:CDKN2B-AS1; CADD_score:2; Consquence:INTRONIC; GeneID:ENSG00000240498; TranscriptID:ENST00000428597; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CDKN2B-AS1; CADD_score:2; Consquence:INTRONIC; GeneID:ENSG00000240498; TranscriptID:ENST00000428597; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004236 30898706 ANRIL rs9632884 ? N/A 401 Han Chinese MI patients and 409 controls EFO_0000612 N/A increasing risk myocardial infarction rs9632884-? of ANRIL and its dysfunction is significantly associated with the increasing risk of Myocardial infarction by using two-stage association study in 401 Han Chinese MI patients and 409 controls 0.4 Association of lncRNA polymorphisms with triglyceride and total cholesterol levels among myocardial infarction patients in Chinese population. two-stage association study ANRIL lncRNA Myocardial infarction 0 TTGATTCACG(G > A,C)AAAGTAAGTT chr9:22072302 0.3049,.,0.6951 0.35318711773700305,.,0.64681288226299694 Region score:0.27;TSS score:0.13;Unmatched score:0.04;Average GERP:0.26 GeneName:CDKN2B-AS1; CADD_score:2; Consquence:INTRONIC; GeneID:ENSG00000240498; TranscriptID:ENST00000428597; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CDKN2B-AS1; CADD_score:2; Consquence:INTRONIC; GeneID:ENSG00000240498; TranscriptID:ENST00000428597; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004237 30898706 ANRIL rs1537373 ? N/A 401 Han Chinese MI patients and 409 controls EFO_0000612 N/A no significance for risk myocardial infarction rs1537373-? of ANRIL and its dysfunction is not significantly associated with Myocardial infarction by using two-stage association study in 401 Han Chinese MI patients and 409 controls -0.4 Association of lncRNA polymorphisms with triglyceride and total cholesterol levels among myocardial infarction patients in Chinese population. two-stage association study ANRIL lncRNA Myocardial infarction -0.33 CTTGGCTATT(T > A,G)GGGGCATTGA chr9:22103342 0.3217,0.6783 0.35566386340468909,0.64433613659531090 Region score:0.43;TSS score:0.44;Unmatched score:0.36;Average GERP:1.9105 GeneName:NA; CADD_score:4; Consquence:REGULATORY; GeneID:NA; TranscriptID:ENSR00000877597; AnnoType:RegulatoryFeature; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CDKN2B-AS1; CADD_score:2; Consquence:INTRONIC; GeneID:ENSG00000240498; TranscriptID:ENST00000428597; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | GeneName:NA; CADD_score:4; Consquence:REGULATORY; GeneID:NA; TranscriptID:ENSR00000877597; AnnoType:RegulatoryFeature; mirSVR-Score:NA; mirSVR-E:NA | GeneName:CDKN2B-AS1; CADD_score:2; Consquence:INTRONIC; GeneID:ENSG00000240498; TranscriptID:ENST00000428597; AnnoType:Transcript; mirSVR-Score:NA; mirSVR-E:NA | NCRV0000004238 26710106 MIR 196A2 rs11614913 T N/A 114 paired samples (tumor and normal tissues) from breast cancer patients EFO_0000305 N/A increasing risk breast carcinoma rs11614913-T of hsa-mir-196a-2 and its dysfunction is significantly associated with the increasing risk of Breast carcinoma by using case-control analysis in 114 paired samples (tumor and normal tissues) from breast cancer patients 0.4 Somatic Mutation of the SNP rs11614913 and Its Association with Increased MIR 196A2 Expression in Breast Cancer. case-control analysis hsa-mir-196a-2 miRNA Breast carcinoma 0.33 - - - - - -