rs12591074

Homo sapiens
C>T
CEMIP : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0212 (6363/29940,GnomAD)
T=0183 (5353/29118,TOPMED)
T=0269 (1348/5008,1000G)
T=0217 (837/3854,ALSPAC)
T=0222 (823/3708,TWINSUK)
chr15:80845525 (GRCh38.p7) (15q25.1)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 15NC_000015.10:g.80845525C>T
GRCh37.p13 chr 15NC_000015.9:g.81137866C>T

Gene: CEMIP, cell migration inducing hyaluronan binding protein(plus strand)

Molecule type Change Amino acid[Codon] SO Term
CEMIP transcript variant 1NM_001293298.1:c.N/AIntron Variant
CEMIP transcript variant 2NM_001293304.1:c.N/AIntron Variant
CEMIP transcript variant 3NM_018689.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.899T=0.101
1000GenomesAmericanSub694C=0.660T=0.340
1000GenomesEast AsianSub1008C=0.495T=0.505
1000GenomesEuropeSub1006C=0.762T=0.238
1000GenomesGlobalStudy-wide5008C=0.731T=0.269
1000GenomesSouth AsianSub978C=0.760T=0.240
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.783T=0.217
The Genome Aggregation DatabaseAfricanSub8710C=0.871T=0.129
The Genome Aggregation DatabaseAmericanSub838C=0.710T=0.290
The Genome Aggregation DatabaseEast AsianSub1616C=0.480T=0.520
The Genome Aggregation DatabaseEuropeSub18474C=0.778T=0.221
The Genome Aggregation DatabaseGlobalStudy-wide29940C=0.787T=0.212
The Genome Aggregation DatabaseOtherSub302C=0.770T=0.230
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.816T=0.183
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.778T=0.222
PMID Title Author Journal
23743675A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.Kapoor MHum Genet

P-Value

SNP ID p-value Traits Study
rs125910747.4E-05alcohol consumption23743675

eQTL of rs12591074 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 rs12591074 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 )
chr158110900881109068E067-28798
chr158111222681112323E067-25543
chr158112099181121663E067-16203
chr158113617481136218E067-1648
chr158113637981137091E067-775
chr158114527681145396E0677410
chr158116397681164026E06726110
chr158116405681164392E06726190
chr158116442681164512E06726560
chr158116458981164667E06726723
chr158116775081168358E06729884
chr158116839281168708E06730526
chr158116885681169187E06730990
chr158111117181111221E068-26645
chr158111124581111300E068-26566
chr158111132781111478E068-26388
chr158111155681111810E068-26056
chr158111725781117346E068-20520
chr158111747681117526E068-20340
chr158111754081117597E068-20269
chr158111776081117820E068-20046
chr158111787281117963E068-19903
chr158111803781118297E068-19569
chr158111836481118480E068-19386
chr158113617481136218E068-1648
chr158113637981137091E068-775
chr158114880381149021E06810937
chr158114904681150004E06811180
chr158115014781150197E06812281
chr158115025681150341E06812390
chr158115039181150494E06812525
chr158115108781151260E06813221
chr158115138681151436E06813520
chr158115144381151493E06813577
chr158116442681164512E06826560
chr158116458981164667E06826723
chr158116775081168358E06829884
chr158116839281168708E06830526
chr158116885681169187E06830990
chr158117066881171046E06832802
chr158117120881171419E06833342
chr158117145581171658E06833589
chr158117215981172209E06834293
chr158117223781172322E06834371
chr158117240981172957E06834543
chr158111117181111221E069-26645
chr158111124581111300E069-26566
chr158111132781111478E069-26388
chr158111155681111810E069-26056
chr158112729781127572E069-10294
chr158112758281128071E069-9795
chr158113131181131395E069-6471
chr158113194581132018E069-5848
chr158113222481132312E069-5554
chr158113250281132575E069-5291
chr158113617481136218E069-1648
chr158113637981137091E069-775
chr158114904681150004E06911180
chr158115014781150197E06912281
chr158116397681164026E06926110
chr158116405681164392E06926190
chr158116442681164512E06926560
chr158116458981164667E06926723
chr158116577181166353E06927905
chr158116637581166582E06928509
chr158116775081168358E06929884
chr158116839281168708E06930526
chr158117066881171046E06932802
chr158117120881171419E06933342
chr158111803781118297E070-19569
chr158111836481118480E070-19386
chr158111857581118715E070-19151
chr158114904681150004E07011180
chr158111747681117526E071-20340
chr158111754081117597E071-20269
chr158111776081117820E071-20046
chr158111803781118297E071-19569
chr158112758281128071E071-9795
chr158113194581132018E071-5848
chr158114904681150004E07111180
chr158115393481154028E07116068
chr158115404081154587E07116174
chr158115461981154763E07116753
chr158116323681163679E07125370
chr158116372681163848E07125860
chr158116388681163952E07126020
chr158116397681164026E07126110
chr158116775081168358E07129884
chr158116839281168708E07130526
chr158116885681169187E07130990
chr158116937781169478E07131511
chr158116960281169674E07131736
chr158116978481169834E07131918
chr158117001881170145E07132152
chr158117956881179792E07141702
chr158117993181180141E07142065
chr158111124581111300E072-26566
chr158111132781111478E072-26388
chr158111222681112323E072-25543
chr158111250781112704E072-25162
chr158111747681117526E072-20340
chr158111754081117597E072-20269
chr158113140581131786E072-6080
chr158113194581132018E072-5848
chr158114859381148715E07210727
chr158114880381149021E07210937
chr158114904681150004E07211180
chr158115014781150197E07212281
chr158116397681164026E07226110
chr158116405681164392E07226190
chr158116442681164512E07226560
chr158116458981164667E07226723
chr158116577181166353E07227905
chr158116637581166582E07228509
chr158116775081168358E07229884
chr158116839281168708E07230526
chr158116885681169187E07230990
chr158109997181100018E073-37848
chr158110006381100130E073-37736
chr158110036281100412E073-37454
chr158110047381100592E073-37274
chr158111117181111221E073-26645
chr158111124581111300E073-26566
chr158111132781111478E073-26388
chr158111155681111810E073-26056
chr158111580981115859E073-22007
chr158112256181122893E073-14973
chr158112311381123243E073-14623
chr158112330181123351E073-14515
chr158112377581123886E073-13980
chr158112394781124111E073-13755
chr158112418281124528E073-13338
chr158112456881124726E073-13140
chr158112481881125480E073-12386
chr158112758281128071E073-9795
chr158113250281132575E073-5291
chr158113261981132855E073-5011
chr158113301081133060E073-4806
chr158113309781133147E073-4719
chr158113315381133340E073-4526
chr158113336181133477E073-4389
chr158113374681133796E073-4070
chr158113617481136218E073-1648
chr158113637981137091E073-775
chr158114574781145807E0737881
chr158114590281145978E0738036
chr158114635281146862E0738486
chr158114904681150004E07311180
chr158115014781150197E07312281
chr158115025681150341E07312390
chr158115039181150494E07312525
chr158116397681164026E07326110
chr158116405681164392E07326190
chr158116577181166353E07327905
chr158116637581166582E07328509
chr158116775081168358E07329884
chr158116839281168708E07330526
chr158116885681169187E07330990
chr158117022981170626E07332363
chr158117066881171046E07332802
chr158111747681117526E074-20340
chr158111754081117597E074-20269
chr158111776081117820E074-20046
chr158111787281117963E074-19903
chr158111803781118297E074-19569
chr158111836481118480E074-19386
chr158112418281124528E074-13338
chr158112456881124726E074-13140
chr158113115281131226E074-6640
chr158113131181131395E074-6471
chr158113140581131786E074-6080
chr158113194581132018E074-5848
chr158114635281146862E0748486
chr158114880381149021E07410937
chr158114904681150004E07411180
chr158115014781150197E07412281
chr158115025681150341E07412390
chr158115039181150494E07412525
chr158116397681164026E07426110
chr158116405681164392E07426190
chr158116442681164512E07426560
chr158116458981164667E07426723
chr158116839281168708E07430526
chr158116885681169187E07430990
chr158117120881171419E07433342
chr158117206781172157E07434201
chr158117215981172209E07434293
chr158117223781172322E07434371
chr158110477081104874E081-32992
chr158110490781105199E081-32667
chr158110527381105323E081-32543
chr158111437181114435E081-23431
chr158111444981114499E081-23367
chr158111456281115788E081-22078
chr158111580981115859E081-22007
chr158111612481116265E081-21601
chr158111640681116805E081-21061
chr158111725781117346E081-20520
chr158111747681117526E081-20340
chr158111754081117597E081-20269
chr158111776081117820E081-20046
chr158111787281117963E081-19903
chr158111803781118297E081-19569
chr158111836481118480E081-19386
chr158111857581118715E081-19151
chr158112418281124528E081-13338
chr158112456881124726E081-13140
chr158112758281128071E081-9795
chr158112812481128400E081-9466
chr158112913381129235E081-8631
chr158112929781129731E081-8135
chr158113027481130355E081-7511
chr158114527681145396E0817410
chr158114635281146862E0818486
chr158114738981147462E0819523
chr158115393481154028E08116068
chr158115404081154587E08116174
chr158110490781105199E082-32667
chr158110527381105323E082-32543
chr158111437181114435E082-23431
chr158111444981114499E082-23367
chr158111456281115788E082-22078
chr158111580981115859E082-22007
chr158111612481116265E082-21601
chr158112812481128400E082-9466
chr158112847981128816E082-9050
chr158112897181129064E082-8802
chr158112913381129235E082-8631
chr158112929781129731E082-8135
chr158112979181129841E082-8025
chr158112989681130013E082-7853
chr158113027481130355E082-7511
chr158114635281146862E0828486