rs4959247

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0193 (5781/29958,GnomAD)
C=0181 (5286/29118,TOPMED)
C=0144 (722/5008,1000G)
C=0264 (1019/3854,ALSPAC)
C=0255 (947/3708,TWINSUK)
chr6:3499729 (GRCh38.p7) (6p25.2)
AD
GWASdb2
1   publication(s)
See rs on genome
138 Enhancers around
27 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.3499729T>C
GRCh37.p13 chr 6NC_000006.11:g.3499963T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.929C=0.071
1000GenomesAmericanSub694T=0.730C=0.270
1000GenomesEast AsianSub1008T=0.995C=0.005
1000GenomesEuropeSub1006T=0.737C=0.263
1000GenomesGlobalStudy-wide5008T=0.856C=0.144
1000GenomesSouth AsianSub978T=0.830C=0.170
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.736C=0.264
The Genome Aggregation DatabaseAfricanSub8720T=0.892C=0.108
The Genome Aggregation DatabaseAmericanSub838T=0.740C=0.260
The Genome Aggregation DatabaseEast AsianSub1622T=0.998C=0.002
The Genome Aggregation DatabaseEuropeSub18476T=0.754C=0.245
The Genome Aggregation DatabaseGlobalStudy-wide29958T=0.807C=0.193
The Genome Aggregation DatabaseOtherSub302T=0.730C=0.270
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.818C=0.181
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.745C=0.255
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
rs49592470.000791alcohol consumption (maxi-drinks)24277619

eQTL of rs4959247 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 rs4959247 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 )
chr634510123451288E067-48675
chr634512963451379E067-48584
chr634518513452026E067-47937
chr634520353452192E067-47771
chr634584283458572E067-41391
chr634585743458801E067-41162
chr634588333458921E067-41042
chr634590623459353E067-40610
chr634668983466994E067-32969
chr634893883490164E067-9799
chr635046163504976E0674653
chr635108223511419E06710859
chr635114943511583E06711531
chr635117103512052E06711747
chr635226113522890E06722648
chr635229393523153E06722976
chr634510123451288E068-48675
chr634512963451379E068-48584
chr634533233453388E068-46575
chr634535273453699E068-46264
chr634733643473698E068-26265
chr635021353502188E0682172
chr635224633522523E06822500
chr635226113522890E06822648
chr634510123451288E069-48675
chr634512963451379E069-48584
chr634518513452026E069-47937
chr634520353452192E069-47771
chr634584283458572E069-41391
chr634585743458801E069-41162
chr634588333458921E069-41042
chr634668983466994E069-32969
chr634675543467838E069-32125
chr634733643473698E069-26265
chr634740453474112E069-25851
chr634742613474364E069-25599
chr634893883490164E069-9799
chr635046163504976E0694653
chr635096913509855E0699728
chr635223393522389E06922376
chr635224633522523E06922500
chr635226113522890E06922648
chr634584283458572E070-41391
chr634585743458801E070-41162
chr634588333458921E070-41042
chr634590623459353E070-40610
chr635196933519775E07019730
chr635198423519960E07019879
chr634510123451288E071-48675
chr634512963451379E071-48584
chr634518513452026E071-47937
chr634520353452192E071-47771
chr634533233453388E071-46575
chr634535273453699E071-46264
chr634668983466994E071-32969
chr634675543467838E071-32125
chr634733643473698E071-26265
chr634835733483646E071-16317
chr634893883490164E071-9799
chr635021353502188E0712172
chr635046163504976E0714653
chr635058483505941E0715885
chr635105483510685E07110585
chr635107273510777E07110764
chr635108223511419E07110859
chr635114943511583E07111531
chr635224633522523E07122500
chr635226113522890E07122648
chr635229393523153E07122976
chr635231683523465E07123205
chr634510123451288E072-48675
chr634512963451379E072-48584
chr634518513452026E072-47937
chr634520353452192E072-47771
chr634668983466994E072-32969
chr634675543467838E072-32125
chr634733643473698E072-26265
chr634893883490164E072-9799
chr635055803505671E0725617
chr635058483505941E0725885
chr635117103512052E07211747
chr635223393522389E07222376
chr635224633522523E07222500
chr635226113522890E07222648
chr635229393523153E07222976
chr634518513452026E073-47937
chr634520353452192E073-47771
chr634533233453388E073-46575
chr634535273453699E073-46264
chr634733643473698E073-26265
chr634740453474112E073-25851
chr635046163504976E0734653
chr634533233453388E074-46575
chr634668983466994E074-32969
chr634675543467838E074-32125
chr634893883490164E074-9799
chr635055803505671E0745617
chr635058483505941E0745885
chr635108223511419E07410859
chr635224633522523E07422500
chr635226113522890E07422648
chr634510123451288E081-48675
chr634512963451379E081-48584
chr634584283458572E081-41391
chr634585743458801E081-41162
chr635175703519598E08117607
chr635196933519775E08119730
chr635198423519960E08119879
chr635201653520829E08120202
chr635208753521045E08120912
chr635211753521583E08121212
chr635219983522163E08122035
chr635223393522389E08122376
chr635224633522523E08122500
chr635226113522890E08122648
chr635229393523153E08122976
chr635231683523465E08123205
chr635234843523849E08123521
chr635242623524485E08124299
chr635271463527554E08127183
chr635388493538945E08138886
chr635389963539052E08139033
chr634584283458572E082-41391
chr635175703519598E08217607
chr635196933519775E08219730
chr635198423519960E08219879
chr635201653520829E08220202
chr635208753521045E08220912
chr635211753521583E08221212
chr635219983522163E08222035
chr635223393522389E08222376
chr635224633522523E08222500
chr635226113522890E08222648
chr635229393523153E08222976
chr635231683523465E08223205
chr635234843523849E08223521
chr635241023524170E08224139
chr635242623524485E08224299










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr634553033456669E067-43294
chr634567843456959E067-43004
chr634570583458385E067-41578
chr634553033456669E068-43294
chr634567843456959E068-43004
chr634570583458385E068-41578
chr634553033456669E069-43294
chr634567843456959E069-43004
chr634570583458385E069-41578
chr634567843456959E070-43004
chr634570583458385E070-41578
chr634553033456669E071-43294
chr634567843456959E071-43004
chr634570583458385E071-41578
chr634553033456669E072-43294
chr634567843456959E072-43004
chr634570583458385E072-41578
chr634553033456669E073-43294
chr634567843456959E073-43004
chr634570583458385E073-41578
chr634553033456669E074-43294
chr634567843456959E074-43004
chr634570583458385E074-41578
chr634553033456669E081-43294
chr634553033456669E082-43294
chr634567843456959E082-43004
chr634570583458385E082-41578