rs13176814

Homo sapiens
A>G
ERGIC1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0142 (4163/29308,GnomAD)
G=0139 (4061/29118,TOPMED)
G=0216 (1080/5008,1000G)
G=0127 (491/3854,ALSPAC)
G=0110 (408/3708,TWINSUK)
chr5:172864246 (GRCh38.p7) (5q35.1)
AD
GWASdb2
1   publication(s)
See rs on genome
400 Enhancers around
9 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.172864246A>G
GRCh37.p13 chr 5NC_000005.9:g.172291249A>G

Gene: ERGIC1, endoplasmic reticulum-golgi intermediate compartment 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
ERGIC1 transcriptNM_001031711.2:c.N/AIntron Variant
ERGIC1 transcript variant X1XM_011534597.1:c.N/AIntron Variant
ERGIC1 transcript variant X3XM_011534598.2:c.N/AIntron Variant
ERGIC1 transcript variant X2XM_017009654.1:c.N/AIntron Variant
ERGIC1 transcript variant X4XM_017009655.1:c.N/AIntron Variant
ERGIC1 transcript variant X6XM_006714892.1:c.N/AGenic Upstream Transcript Variant
ERGIC1 transcript variant X5XR_001742159.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.881G=0.119
1000GenomesAmericanSub694A=0.720G=0.280
1000GenomesEast AsianSub1008A=0.657G=0.343
1000GenomesEuropeSub1006A=0.879G=0.121
1000GenomesGlobalStudy-wide5008A=0.784G=0.216
1000GenomesSouth AsianSub978A=0.740G=0.260
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.873G=0.127
The Genome Aggregation DatabaseAfricanSub8562A=0.863G=0.137
The Genome Aggregation DatabaseAmericanSub820A=0.660G=0.340
The Genome Aggregation DatabaseEast AsianSub1606A=0.623G=0.377
The Genome Aggregation DatabaseEuropeSub18018A=0.884G=0.115
The Genome Aggregation DatabaseGlobalStudy-wide29308A=0.858G=0.142
The Genome Aggregation DatabaseOtherSub302A=0.920G=0.080
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.860G=0.139
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.890G=0.110
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs131768140.000639alcohol dependence20201924

eQTL of rs13176814 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
There is no eQTL annotation for this SNP

meQTL of rs13176814 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr5172262990172263288E067-27961
chr5172263347172263444E067-27805
chr5172263471172263566E067-27683
chr5172263605172263651E067-27598
chr5172263821172263902E067-27347
chr5172264169172264219E067-27030
chr5172264238172264394E067-26855
chr5172264468172265285E067-25964
chr5172266840172266961E067-24288
chr5172267211172267420E067-23829
chr5172267441172267594E067-23655
chr5172267620172267715E067-23534
chr5172267724172267868E067-23381
chr5172271812172271968E067-19281
chr5172273352172273603E067-17646
chr5172273736172273821E067-17428
chr5172273835172273965E067-17284
chr5172281313172282102E067-9147
chr5172282130172282401E067-8848
chr5172282518172282924E067-8325
chr5172282935172283383E067-7866
chr5172285365172287059E067-4190
chr5172287070172287301E067-3948
chr5172287310172287382E067-3867
chr5172288628172288783E067-2466
chr5172293715172293856E0672466
chr5172293883172294344E0672634
chr5172294359172294667E0673110
chr5172294765172297256E0673516
chr5172297257172298830E0676008
chr5172298855172299487E0677606
chr5172299727172299800E0678478
chr5172299860172300784E0678611
chr5172302886172303272E06711637
chr5172303449172303540E06712200
chr5172303630172303914E06712381
chr5172305607172305901E06714358
chr5172305972172306734E06714723
chr5172313741172315253E06722492
chr5172319082172319697E06727833
chr5172319773172320071E06728524
chr5172320089172320186E06728840
chr5172324461172325487E06733212
chr5172330807172331451E06739558
chr5172331470172332551E06740221
chr5172332555172332724E06741306
chr5172332794172333064E06741545
chr5172260296172260370E068-30879
chr5172262990172263288E068-27961
chr5172263347172263444E068-27805
chr5172263471172263566E068-27683
chr5172263605172263651E068-27598
chr5172263821172263902E068-27347
chr5172264169172264219E068-27030
chr5172264238172264394E068-26855
chr5172264468172265285E068-25964
chr5172266840172266961E068-24288
chr5172267211172267420E068-23829
chr5172267441172267594E068-23655
chr5172276528172277653E068-13596
chr5172282130172282401E068-8848
chr5172282518172282924E068-8325
chr5172285365172287059E068-4190
chr5172287070172287301E068-3948
chr5172287310172287382E068-3867
chr5172288628172288783E068-2466
chr5172288820172288918E068-2331
chr5172289169172289291E068-1958
chr5172289339172289738E068-1511
chr5172293376172293420E0682127
chr5172293598172293697E0682349
chr5172293715172293856E0682466
chr5172293883172294344E0682634
chr5172294359172294667E0683110
chr5172294765172297256E0683516
chr5172297257172298830E0686008
chr5172298855172299487E0687606
chr5172299727172299800E0688478
chr5172299860172300784E0688611
chr5172318825172318981E06827576
chr5172319082172319697E06827833
chr5172319773172320071E06828524
chr5172320089172320186E06828840
chr5172328962172330572E06837713
chr5172330807172331451E06839558
chr5172331470172332551E06840221
chr5172332555172332724E06841306
chr5172332794172333064E06841545
chr5172260296172260370E069-30879
chr5172263471172263566E069-27683
chr5172263605172263651E069-27598
chr5172263821172263902E069-27347
chr5172264169172264219E069-27030
chr5172264238172264394E069-26855
chr5172264468172265285E069-25964
chr5172267211172267420E069-23829
chr5172267441172267594E069-23655
chr5172267620172267715E069-23534
chr5172267724172267868E069-23381
chr5172267897172268012E069-23237
chr5172268372172268560E069-22689
chr5172273352172273603E069-17646
chr5172279194172279261E069-11988
chr5172279291172279404E069-11845
chr5172279436172279506E069-11743
chr5172279525172279598E069-11651
chr5172279686172280040E069-11209
chr5172282130172282401E069-8848
chr5172282518172282924E069-8325
chr5172285365172287059E069-4190
chr5172287070172287301E069-3948
chr5172287310172287382E069-3867
chr5172288628172288783E069-2466
chr5172293152172293257E0691903
chr5172293376172293420E0692127
chr5172293598172293697E0692349
chr5172293715172293856E0692466
chr5172293883172294344E0692634
chr5172294359172294667E0693110
chr5172294765172297256E0693516
chr5172297257172298830E0696008
chr5172298855172299487E0697606
chr5172299727172299800E0698478
chr5172299860172300784E0698611
chr5172302886172303272E06911637
chr5172304992172305265E06913743
chr5172305297172305421E06914048
chr5172305490172305544E06914241
chr5172305607172305901E06914358
chr5172305972172306734E06914723
chr5172324461172325487E06933212
chr5172325877172325929E06934628
chr5172330807172331451E06939558
chr5172331470172332551E06940221
chr5172332794172333064E06941545
chr5172262990172263288E070-27961
chr5172266840172266961E070-24288
chr5172267211172267420E070-23829
chr5172267441172267594E070-23655
chr5172267620172267715E070-23534
chr5172267724172267868E070-23381
chr5172267897172268012E070-23237
chr5172268372172268560E070-22689
chr5172268718172268794E070-22455
chr5172287070172287301E070-3948
chr5172287310172287382E070-3867
chr5172287474172288570E070-2679
chr5172297257172298830E0706008
chr5172299860172300784E0708611
chr5172260296172260370E071-30879
chr5172263347172263444E071-27805
chr5172263471172263566E071-27683
chr5172263605172263651E071-27598
chr5172263821172263902E071-27347
chr5172264169172264219E071-27030
chr5172264238172264394E071-26855
chr5172264468172265285E071-25964
chr5172267211172267420E071-23829
chr5172271812172271968E071-19281
chr5172272136172272534E071-18715
chr5172273352172273603E071-17646
chr5172281313172282102E071-9147
chr5172282130172282401E071-8848
chr5172282518172282924E071-8325
chr5172285365172287059E071-4190
chr5172287070172287301E071-3948
chr5172287310172287382E071-3867
chr5172288628172288783E071-2466
chr5172288820172288918E071-2331
chr5172289169172289291E071-1958
chr5172289339172289738E071-1511
chr5172293376172293420E0712127
chr5172293598172293697E0712349
chr5172293715172293856E0712466
chr5172293883172294344E0712634
chr5172294359172294667E0713110
chr5172297257172298830E0716008
chr5172298855172299487E0717606
chr5172299727172299800E0718478
chr5172299860172300784E0718611
chr5172300825172301108E0719576
chr5172302886172303272E07111637
chr5172304992172305265E07113743
chr5172305972172306734E07114723
chr5172309322172309427E07118073
chr5172309475172309553E07118226
chr5172313216172313367E07121967
chr5172313505172313577E07122256
chr5172313741172315253E07122492
chr5172323915172323971E07132666
chr5172324461172325487E07133212
chr5172325877172325929E07134628
chr5172327752172327841E07136503
chr5172327896172328527E07136647
chr5172328620172328726E07137371
chr5172328871172328922E07137622
chr5172328962172330572E07137713
chr5172330807172331451E07139558
chr5172331470172332551E07140221
chr5172332794172333064E07141545
chr5172333257172333503E07142008
chr5172333535172333733E07142286
chr5172260296172260370E072-30879
chr5172264169172264219E072-27030
chr5172264238172264394E072-26855
chr5172264468172265285E072-25964
chr5172266840172266961E072-24288
chr5172267211172267420E072-23829
chr5172267441172267594E072-23655
chr5172267620172267715E072-23534
chr5172267724172267868E072-23381
chr5172267897172268012E072-23237
chr5172270965172271079E072-20170
chr5172271103172271414E072-19835
chr5172273352172273603E072-17646
chr5172273736172273821E072-17428
chr5172273835172273965E072-17284
chr5172274139172274225E072-17024
chr5172275292172275697E072-15552
chr5172278561172278611E072-12638
chr5172278873172278999E072-12250
chr5172281313172282102E072-9147
chr5172282130172282401E072-8848
chr5172282518172282924E072-8325
chr5172282935172283383E072-7866
chr5172285365172287059E072-4190
chr5172287070172287301E072-3948
chr5172293376172293420E0722127
chr5172293598172293697E0722349
chr5172293715172293856E0722466
chr5172293883172294344E0722634
chr5172294359172294667E0723110
chr5172294765172297256E0723516
chr5172297257172298830E0726008
chr5172298855172299487E0727606
chr5172299727172299800E0728478
chr5172299860172300784E0728611
chr5172302255172302595E07211006
chr5172302886172303272E07211637
chr5172303449172303540E07212200
chr5172305297172305421E07214048
chr5172305490172305544E07214241
chr5172305607172305901E07214358
chr5172305972172306734E07214723
chr5172318825172318981E07227576
chr5172319082172319697E07227833
chr5172319773172320071E07228524
chr5172320089172320186E07228840
chr5172321676172321753E07230427
chr5172324461172325487E07233212
chr5172325877172325929E07234628
chr5172327752172327841E07236503
chr5172327896172328527E07236647
chr5172328962172330572E07237713
chr5172330807172331451E07239558
chr5172331470172332551E07240221
chr5172332794172333064E07241545
chr5172333257172333503E07242008
chr5172262990172263288E073-27961
chr5172263347172263444E073-27805
chr5172264468172265285E073-25964
chr5172267211172267420E073-23829
chr5172267441172267594E073-23655
chr5172267620172267715E073-23534
chr5172267724172267868E073-23381
chr5172267897172268012E073-23237
chr5172273352172273603E073-17646
chr5172275292172275697E073-15552
chr5172275740172275790E073-15459
chr5172281313172282102E073-9147
chr5172282130172282401E073-8848
chr5172282518172282924E073-8325
chr5172284677172284975E073-6274
chr5172285249172285360E073-5889
chr5172285365172287059E073-4190
chr5172287070172287301E073-3948
chr5172287310172287382E073-3867
chr5172292542172292608E0731293
chr5172293152172293257E0731903
chr5172293376172293420E0732127
chr5172293598172293697E0732349
chr5172293715172293856E0732466
chr5172293883172294344E0732634
chr5172294359172294667E0733110
chr5172294765172297256E0733516
chr5172297257172298830E0736008
chr5172298855172299487E0737606
chr5172299727172299800E0738478
chr5172299860172300784E0738611
chr5172300825172301108E0739576
chr5172301963172302148E07310714
chr5172302255172302595E07311006
chr5172302886172303272E07311637
chr5172305972172306734E07314723
chr5172313505172313577E07322256
chr5172313741172315253E07322492
chr5172319773172320071E07328524
chr5172320089172320186E07328840
chr5172323544172323829E07332295
chr5172323915172323971E07332666
chr5172325877172325929E07334628
chr5172327752172327841E07336503
chr5172327896172328527E07336647
chr5172328962172330572E07337713
chr5172330807172331451E07339558
chr5172331470172332551E07340221
chr5172332555172332724E07341306
chr5172332794172333064E07341545
chr5172333257172333503E07342008
chr5172262990172263288E074-27961
chr5172263347172263444E074-27805
chr5172263471172263566E074-27683
chr5172263605172263651E074-27598
chr5172263821172263902E074-27347
chr5172264169172264219E074-27030
chr5172264238172264394E074-26855
chr5172266840172266961E074-24288
chr5172267211172267420E074-23829
chr5172267441172267594E074-23655
chr5172281313172282102E074-9147
chr5172282130172282401E074-8848
chr5172282518172282924E074-8325
chr5172282935172283383E074-7866
chr5172285249172285360E074-5889
chr5172285365172287059E074-4190
chr5172287070172287301E074-3948
chr5172287310172287382E074-3867
chr5172293598172293697E0742349
chr5172293715172293856E0742466
chr5172293883172294344E0742634
chr5172294359172294667E0743110
chr5172294765172297256E0743516
chr5172297257172298830E0746008
chr5172298855172299487E0747606
chr5172299727172299800E0748478
chr5172299860172300784E0748611
chr5172300825172301108E0749576
chr5172302255172302595E07411006
chr5172302886172303272E07411637
chr5172305297172305421E07414048
chr5172305490172305544E07414241
chr5172305607172305901E07414358
chr5172318825172318981E07427576
chr5172319082172319697E07427833
chr5172319773172320071E07428524
chr5172320089172320186E07428840
chr5172327752172327841E07436503
chr5172327896172328527E07436647
chr5172328962172330572E07437713
chr5172330807172331451E07439558
chr5172331470172332551E07440221
chr5172332555172332724E07441306
chr5172332794172333064E07441545
chr5172333257172333503E07442008
chr5172338615172338730E07447366
chr5172285249172285360E081-5889
chr5172287070172287301E081-3948
chr5172287310172287382E081-3867
chr5172293598172293697E0812349
chr5172293883172294344E0812634
chr5172294359172294667E0813110
chr5172294765172297256E0813516
chr5172297257172298830E0816008
chr5172298855172299487E0817606
chr5172299727172299800E0818478
chr5172299860172300784E0818611
chr5172300825172301108E0819576
chr5172301431172301547E08110182
chr5172301963172302148E08110714
chr5172302255172302595E08111006
chr5172302886172303272E08111637
chr5172303449172303540E08112200
chr5172303630172303914E08112381
chr5172304549172304893E08113300
chr5172304992172305265E08113743
chr5172305297172305421E08114048
chr5172305490172305544E08114241
chr5172305607172305901E08114358
chr5172330807172331451E08139558
chr5172262990172263288E082-27961
chr5172263347172263444E082-27805
chr5172263471172263566E082-27683
chr5172263605172263651E082-27598
chr5172283737172283781E082-7468
chr5172284418172284514E082-6735
chr5172284677172284975E082-6274
chr5172285249172285360E082-5889
chr5172293376172293420E0822127
chr5172293598172293697E0822349
chr5172293715172293856E0822466
chr5172293883172294344E0822634
chr5172294359172294667E0823110
chr5172294765172297256E0823516
chr5172297257172298830E0826008
chr5172298855172299487E0827606
chr5172299727172299800E0828478
chr5172299860172300784E0828611
chr5172302886172303272E08211637
chr5172303449172303540E08212200
chr5172303630172303914E08212381










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr5172260435172262900E067-28349
chr5172260435172262900E068-28349
chr5172260435172262900E069-28349
chr5172260435172262900E070-28349
chr5172260435172262900E071-28349
chr5172260435172262900E072-28349
chr5172260435172262900E073-28349
chr5172260435172262900E074-28349
chr5172260435172262900E082-28349