rs12372944

Homo sapiens
T>C
CEMIP : Intron Variant
MIR549A : 2KB Upstream Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0229 (6850/29918,GnomAD)
T==0214 (6231/29118,TOPMED)
T==0285 (1427/5008,1000G)
T==0216 (833/3854,ALSPAC)
T==0222 (823/3708,TWINSUK)
chr15:80843108 (GRCh38.p7) (15q25.1)
AD
GWASdb2
1   publication(s)
See rs on genome
233 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 15NC_000015.10:g.80843108T>C
GRCh37.p13 chr 15NC_000015.9:g.81135449T>C

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

Gene: MIR549A, microRNA 549a(minus strand): 2KB Upstream Variant

Molecule type Change Amino acid[Codon] SO Term
MIR549A transcriptNR_030393.1:n.N/AUpstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.165C=0.835
1000GenomesAmericanSub694T=0.340C=0.660
1000GenomesEast AsianSub1008T=0.502C=0.498
1000GenomesEuropeSub1006T=0.238C=0.762
1000GenomesGlobalStudy-wide5008T=0.285C=0.715
1000GenomesSouth AsianSub978T=0.240C=0.760
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.216C=0.784
The Genome Aggregation DatabaseAfricanSub8704T=0.193C=0.807
The Genome Aggregation DatabaseAmericanSub834T=0.290C=0.710
The Genome Aggregation DatabaseEast AsianSub1614T=0.514C=0.486
The Genome Aggregation DatabaseEuropeSub18466T=0.218C=0.781
The Genome Aggregation DatabaseGlobalStudy-wide29918T=0.229C=0.771
The Genome Aggregation DatabaseOtherSub300T=0.220C=0.780
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.214C=0.786
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.222C=0.778
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
rs123729444.17E-05alcohol consumption23743675

eQTL of rs12372944 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 rs12372944 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 )
chr158110900881109068E067-26381
chr158111222681112323E067-23126
chr158112099181121663E067-13786
chr158113617481136218E067725
chr158113637981137091E067930
chr158114527681145396E0679827
chr158116397681164026E06728527
chr158116405681164392E06728607
chr158116442681164512E06728977
chr158116458981164667E06729140
chr158116775081168358E06732301
chr158116839281168708E06732943
chr158116885681169187E06733407
chr158111117181111221E068-24228
chr158111124581111300E068-24149
chr158111132781111478E068-23971
chr158111155681111810E068-23639
chr158111725781117346E068-18103
chr158111747681117526E068-17923
chr158111754081117597E068-17852
chr158111776081117820E068-17629
chr158111787281117963E068-17486
chr158111803781118297E068-17152
chr158111836481118480E068-16969
chr158113617481136218E068725
chr158113637981137091E068930
chr158114880381149021E06813354
chr158114904681150004E06813597
chr158115014781150197E06814698
chr158115025681150341E06814807
chr158115039181150494E06814942
chr158115108781151260E06815638
chr158115138681151436E06815937
chr158115144381151493E06815994
chr158116442681164512E06828977
chr158116458981164667E06829140
chr158116775081168358E06832301
chr158116839281168708E06832943
chr158116885681169187E06833407
chr158117066881171046E06835219
chr158117120881171419E06835759
chr158117145581171658E06836006
chr158117215981172209E06836710
chr158117223781172322E06836788
chr158117240981172957E06836960
chr158111117181111221E069-24228
chr158111124581111300E069-24149
chr158111132781111478E069-23971
chr158111155681111810E069-23639
chr158112729781127572E069-7877
chr158112758281128071E069-7378
chr158113131181131395E069-4054
chr158113194581132018E069-3431
chr158113222481132312E069-3137
chr158113250281132575E069-2874
chr158113617481136218E069725
chr158113637981137091E069930
chr158114904681150004E06913597
chr158115014781150197E06914698
chr158116397681164026E06928527
chr158116405681164392E06928607
chr158116442681164512E06928977
chr158116458981164667E06929140
chr158116577181166353E06930322
chr158116637581166582E06930926
chr158116775081168358E06932301
chr158116839281168708E06932943
chr158117066881171046E06935219
chr158117120881171419E06935759
chr158111803781118297E070-17152
chr158111836481118480E070-16969
chr158111857581118715E070-16734
chr158114904681150004E07013597
chr158111747681117526E071-17923
chr158111754081117597E071-17852
chr158111776081117820E071-17629
chr158111803781118297E071-17152
chr158112758281128071E071-7378
chr158113194581132018E071-3431
chr158114904681150004E07113597
chr158115393481154028E07118485
chr158115404081154587E07118591
chr158115461981154763E07119170
chr158116323681163679E07127787
chr158116372681163848E07128277
chr158116388681163952E07128437
chr158116397681164026E07128527
chr158116775081168358E07132301
chr158116839281168708E07132943
chr158116885681169187E07133407
chr158116937781169478E07133928
chr158116960281169674E07134153
chr158116978481169834E07134335
chr158117001881170145E07134569
chr158117956881179792E07144119
chr158117993181180141E07144482
chr158111124581111300E072-24149
chr158111132781111478E072-23971
chr158111222681112323E072-23126
chr158111250781112704E072-22745
chr158111747681117526E072-17923
chr158111754081117597E072-17852
chr158113140581131786E072-3663
chr158113194581132018E072-3431
chr158114859381148715E07213144
chr158114880381149021E07213354
chr158114904681150004E07213597
chr158115014781150197E07214698
chr158116397681164026E07228527
chr158116405681164392E07228607
chr158116442681164512E07228977
chr158116458981164667E07229140
chr158116577181166353E07230322
chr158116637581166582E07230926
chr158116775081168358E07232301
chr158116839281168708E07232943
chr158116885681169187E07233407
chr158109997181100018E073-35431
chr158110006381100130E073-35319
chr158110036281100412E073-35037
chr158110047381100592E073-34857
chr158111117181111221E073-24228
chr158111124581111300E073-24149
chr158111132781111478E073-23971
chr158111155681111810E073-23639
chr158111580981115859E073-19590
chr158112256181122893E073-12556
chr158112311381123243E073-12206
chr158112330181123351E073-12098
chr158112377581123886E073-11563
chr158112394781124111E073-11338
chr158112418281124528E073-10921
chr158112456881124726E073-10723
chr158112481881125480E073-9969
chr158112758281128071E073-7378
chr158113250281132575E073-2874
chr158113261981132855E073-2594
chr158113301081133060E073-2389
chr158113309781133147E073-2302
chr158113315381133340E073-2109
chr158113336181133477E073-1972
chr158113374681133796E073-1653
chr158113617481136218E073725
chr158113637981137091E073930
chr158114574781145807E07310298
chr158114590281145978E07310453
chr158114635281146862E07310903
chr158114904681150004E07313597
chr158115014781150197E07314698
chr158115025681150341E07314807
chr158115039181150494E07314942
chr158116397681164026E07328527
chr158116405681164392E07328607
chr158116577181166353E07330322
chr158116637581166582E07330926
chr158116775081168358E07332301
chr158116839281168708E07332943
chr158116885681169187E07333407
chr158117022981170626E07334780
chr158117066881171046E07335219
chr158111747681117526E074-17923
chr158111754081117597E074-17852
chr158111776081117820E074-17629
chr158111787281117963E074-17486
chr158111803781118297E074-17152
chr158111836481118480E074-16969
chr158112418281124528E074-10921
chr158112456881124726E074-10723
chr158113115281131226E074-4223
chr158113131181131395E074-4054
chr158113140581131786E074-3663
chr158113194581132018E074-3431
chr158114635281146862E07410903
chr158114880381149021E07413354
chr158114904681150004E07413597
chr158115014781150197E07414698
chr158115025681150341E07414807
chr158115039181150494E07414942
chr158116397681164026E07428527
chr158116405681164392E07428607
chr158116442681164512E07428977
chr158116458981164667E07429140
chr158116839281168708E07432943
chr158116885681169187E07433407
chr158117120881171419E07435759
chr158117206781172157E07436618
chr158117215981172209E07436710
chr158117223781172322E07436788
chr158110477081104874E081-30575
chr158110490781105199E081-30250
chr158110527381105323E081-30126
chr158111437181114435E081-21014
chr158111444981114499E081-20950
chr158111456281115788E081-19661
chr158111580981115859E081-19590
chr158111612481116265E081-19184
chr158111640681116805E081-18644
chr158111725781117346E081-18103
chr158111747681117526E081-17923
chr158111754081117597E081-17852
chr158111776081117820E081-17629
chr158111787281117963E081-17486
chr158111803781118297E081-17152
chr158111836481118480E081-16969
chr158111857581118715E081-16734
chr158112418281124528E081-10921
chr158112456881124726E081-10723
chr158112758281128071E081-7378
chr158112812481128400E081-7049
chr158112913381129235E081-6214
chr158112929781129731E081-5718
chr158113027481130355E081-5094
chr158114527681145396E0819827
chr158114635281146862E08110903
chr158114738981147462E08111940
chr158115393481154028E08118485
chr158115404081154587E08118591
chr158110490781105199E082-30250
chr158110527381105323E082-30126
chr158111437181114435E082-21014
chr158111444981114499E082-20950
chr158111456281115788E082-19661
chr158111580981115859E082-19590
chr158111612481116265E082-19184
chr158112812481128400E082-7049
chr158112847981128816E082-6633
chr158112897181129064E082-6385
chr158112913381129235E082-6214
chr158112929781129731E082-5718
chr158112979181129841E082-5608
chr158112989681130013E082-5436
chr158113027481130355E082-5094
chr158114635281146862E08210903