rs7077972

Homo sapiens
A>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0338 (10097/29862,GnomAD)
C=0391 (11390/29118,TOPMED)
C=0384 (1925/5008,1000G)
C=0251 (968/3854,ALSPAC)
C=0264 (980/3708,TWINSUK)
chr10:7438730 (GRCh38.p7) (10p14)
AD
GWASdb2
1   publication(s)
See rs on genome
146 Enhancers around
28 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.7438730A>C
GRCh37.p13 chr 10NC_000010.10:g.7480692A>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.411C=0.589
1000GenomesAmericanSub694A=0.750C=0.250
1000GenomesEast AsianSub1008A=0.735C=0.265
1000GenomesEuropeSub1006A=0.730C=0.270
1000GenomesGlobalStudy-wide5008A=0.616C=0.384
1000GenomesSouth AsianSub978A=0.560C=0.440
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.749C=0.251
The Genome Aggregation DatabaseAfricanSub8670A=0.468C=0.532
The Genome Aggregation DatabaseAmericanSub836A=0.790C=0.210
The Genome Aggregation DatabaseEast AsianSub1618A=0.786C=0.214
The Genome Aggregation DatabaseEuropeSub18436A=0.737C=0.262
The Genome Aggregation DatabaseGlobalStudy-wide29862A=0.661C=0.338
The Genome Aggregation DatabaseOtherSub302A=0.620C=0.380
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.608C=0.391
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.736C=0.264
PMID Title Author Journal
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs70779720.000761alcohol consumption (maxi-drinks)24277619

eQTL of rs7077972 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 rs7077972 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 )
chr1074396317439882E067-40810
chr1074401807440278E067-40414
chr1074410657441202E067-39490
chr1074415797441845E067-38847
chr1074418617441987E067-38705
chr1074420967442811E067-37881
chr1074872677487362E0676575
chr1074308817430986E068-49706
chr1074314107431645E068-49047
chr1074318777431927E068-48765
chr1074319787432063E068-48629
chr1074393117439539E068-41153
chr1074401807440278E068-40414
chr1074418617441987E068-38705
chr1074420967442811E068-37881
chr1074435647443614E068-37078
chr1074437037444099E068-36593
chr1074467677446817E068-33875
chr1074471747447228E068-33464
chr1074472457447305E068-33387
chr1074473187447605E068-33087
chr1074750607475179E068-5513
chr1074752147475712E068-4980
chr1074757557475890E068-4802
chr1074856467485696E0684954
chr1074872677487362E0686575
chr1074875417488119E0686849
chr1075169527517043E06836260
chr1075223777522452E06841685
chr1075225667522616E06841874
chr1075226507523955E06841958
chr1074401807440278E069-40414
chr1074405737440623E069-40069
chr1074415797441845E069-38847
chr1074418617441987E069-38705
chr1074420967442811E069-37881
chr1074435647443614E069-37078
chr1074437037444099E069-36593
chr1074446467444752E069-35940
chr1074589127459479E069-21213
chr1074752147475712E069-4980
chr1074757557475890E069-4802
chr1074801027480381E069-311
chr1074872677487362E0696575
chr1074875417488119E0696849
chr1074776627477832E070-2860
chr1074796507479690E070-1002
chr1074797827479877E070-815
chr1074801027480381E070-311
chr1075171327518238E07036440
chr1074308817430986E071-49706
chr1074313007431350E071-49342
chr1074314107431645E071-49047
chr1074318777431927E071-48765
chr1074319787432063E071-48629
chr1074393117439539E071-41153
chr1074396317439882E071-40810
chr1074401807440278E071-40414
chr1074415797441845E071-38847
chr1074418617441987E071-38705
chr1074420967442811E071-37881
chr1074435647443614E071-37078
chr1074437037444099E071-36593
chr1074778427477904E071-2788
chr1074792667479316E071-1376
chr1074793577479543E071-1149
chr1074816867481736E071994
chr1074821747482214E0711482
chr1074835837483630E0712891
chr1074837397483789E0713047
chr1074838397483879E0713147
chr1074840737484184E0713381
chr1074843047484379E0713612
chr1074844337484680E0713741
chr1074848407484880E0714148
chr1074850267485076E0714334
chr1074851417485191E0714449
chr1074856467485696E0714954
chr1074875417488119E0716849
chr1075001467500217E07119454
chr1075004707500609E07119778
chr1075006237500803E07119931
chr1075113567511406E07130664
chr1075119687512054E07131276
chr1075169527517043E07136260
chr1075223777522452E07141685
chr1075225667522616E07141874
chr1074314107431645E072-49047
chr1074318777431927E072-48765
chr1074319787432063E072-48629
chr1074396317439882E072-40810
chr1074415797441845E072-38847
chr1074418617441987E072-38705
chr1074420967442811E072-37881
chr1074837397483789E0723047
chr1074875417488119E0726849
chr1074884687488519E0727776
chr1074886457488698E0727953
chr1074318777431927E073-48765
chr1074319787432063E073-48629
chr1074415797441845E073-38847
chr1074418617441987E073-38705
chr1074420967442811E073-37881
chr1074471747447228E073-33464
chr1074472457447305E073-33387
chr1074473187447605E073-33087
chr1074872677487362E0736575
chr1075169527517043E07336260
chr1074314107431645E074-49047
chr1074318777431927E074-48765
chr1074319787432063E074-48629
chr1074323457432385E074-48307
chr1074393117439539E074-41153
chr1074396317439882E074-40810
chr1074401807440278E074-40414
chr1074405737440623E074-40069
chr1074409247440974E074-39718
chr1074410657441202E074-39490
chr1074415797441845E074-38847
chr1074418617441987E074-38705
chr1074420967442811E074-37881
chr1074435647443614E074-37078
chr1074437037444099E074-36593
chr1074653657465865E074-14827
chr1074659347466003E074-14689
chr1074661117466561E074-14131
chr1074750607475179E074-5513
chr1074752147475712E074-4980
chr1074757557475890E074-4802
chr1074872677487362E0746575
chr1074875417488119E0746849
chr1074884687488519E0747776
chr1074886457488698E0747953
chr1074888407488927E0748148
chr1075119687512054E07431276
chr1075121387512207E07431446
chr1075122747512326E07431582
chr1075124257512507E07431733
chr1075125227512610E07431830
chr1075169527517043E07436260
chr1075226507523955E07441958
chr1075169527517043E08136260
chr1075171327518238E08136440
chr1074420967442811E082-37881
chr1074750607475179E082-5513
chr1075169527517043E08236260










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1074486597455260E067-25432
chr1074863667486447E0675674
chr1074864717487091E0675779
chr1074486597455260E068-25432
chr1074553237455434E068-25258
chr1074863667486447E0685674
chr1074864717487091E0685779
chr1074486597455260E069-25432
chr1074863667486447E0695674
chr1074864717487091E0695779
chr1074863667486447E0705674
chr1074864717487091E0705779
chr1074486597455260E071-25432
chr1074553237455434E071-25258
chr1074863667486447E0715674
chr1074864717487091E0715779
chr1074486597455260E072-25432
chr1074553237455434E072-25258
chr1074863667486447E0725674
chr1074864717487091E0725779
chr1074486597455260E073-25432
chr1074864717487091E0735779
chr1074486597455260E074-25432
chr1074863667486447E0745674
chr1074864717487091E0745779
chr1074486597455260E082-25432
chr1074863667486447E0825674
chr1074864717487091E0825779