rs34993366

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0135 (4053/29970,GnomAD)
C=0148 (4322/29118,TOPMED)
C=0142 (713/5008,1000G)
C=0073 (281/3854,ALSPAC)
C=0074 (274/3708,TWINSUK)
chr17:45326782 (GRCh38.p7) (17q21.31)
AD
GWASdb2
1   publication(s)
See rs on genome
303 Enhancers around
5 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 17NC_000017.11:g.45326782T>C
GRCh37.p13 chr 17NC_000017.10:g.43404148T>C
GRCh38.p7 chr 17 alt locus HSCHR17_1_CTG5NT_167251.2:g.17285T>C
GRCh38.p7 chr 17 alt locus HSCHR17_2_CTG5NT_187663.1:g.17285T>C
GRCh37.p13 chr 17 alt locus HSCHR17_1_CTG5NT_167251.1:g.19284T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.720C=0.280
1000GenomesAmericanSub694T=0.940C=0.060
1000GenomesEast AsianSub1008T=0.882C=0.118
1000GenomesEuropeSub1006T=0.922C=0.078
1000GenomesGlobalStudy-wide5008T=0.858C=0.142
1000GenomesSouth AsianSub978T=0.900C=0.100
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.927C=0.073
The Genome Aggregation DatabaseAfricanSub8718T=0.747C=0.253
The Genome Aggregation DatabaseAmericanSub838T=0.910C=0.090
The Genome Aggregation DatabaseEast AsianSub1616T=0.875C=0.125
The Genome Aggregation DatabaseEuropeSub18496T=0.916C=0.083
The Genome Aggregation DatabaseGlobalStudy-wide29970T=0.864C=0.135
The Genome Aggregation DatabaseOtherSub302T=0.920C=0.080
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.851C=0.148
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.926C=0.074
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
rs349933660.000664alcohol consumption (maxi-drinks)24277619

eQTL of rs34993366 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 rs34993366 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 )
chr174335463643356036E067-48112
chr174336510943365216E067-38932
chr174336524043365743E067-38405
chr174336574443365904E067-38244
chr174336597343366100E067-38048
chr174336614043367057E067-37091
chr174336811243368907E067-35241
chr174336891643369133E067-35015
chr174336924743369379E067-34769
chr174336940243369481E067-34667
chr174336954543369660E067-34488
chr174336976543369819E067-34329
chr174336991943370043E067-34105
chr174337014743370559E067-33589
chr174337185443372335E067-31813
chr174337595743377154E067-26994
chr174338292143383756E067-20392
chr174338394043384005E067-20143
chr174338404843384099E067-20049
chr174338467543385753E067-18395
chr174338575643385799E067-18349
chr174338782143388556E067-15592
chr174338861043391237E067-12911
chr174339625543396457E067-7691
chr174335463643356036E068-48112
chr174336444143364491E068-39657
chr174336469543364857E068-39291
chr174336498243365085E068-39063
chr174336510943365216E068-38932
chr174336524043365743E068-38405
chr174336574443365904E068-38244
chr174336597343366100E068-38048
chr174336614043367057E068-37091
chr174336714243367219E068-36929
chr174336722943367348E068-36800
chr174336735643367629E068-36519
chr174336764443367762E068-36386
chr174336788243367994E068-36154
chr174336811243368907E068-35241
chr174336891643369133E068-35015
chr174336924743369379E068-34769
chr174336940243369481E068-34667
chr174336954543369660E068-34488
chr174336976543369819E068-34329
chr174336991943370043E068-34105
chr174337014743370559E068-33589
chr174337060143371769E068-32379
chr174337185443372335E068-31813
chr174337242443372474E068-31674
chr174337253143373110E068-31038
chr174337311243373712E068-30436
chr174337595743377154E068-26994
chr174337747843377817E068-26331
chr174337784043378006E068-26142
chr174338292143383756E068-20392
chr174338394043384005E068-20143
chr174338404843384099E068-20049
chr174338411943384291E068-19857
chr174338467543385753E068-18395
chr174338575643385799E068-18349
chr174338586343385994E068-18154
chr174338640943386459E068-17689
chr174338654043386684E068-17464
chr174338673043386796E068-17352
chr174338691443387367E068-16781
chr174338782143388556E068-15592
chr174338861043391237E068-12911
chr174339570643395906E068-8242
chr174339594743396005E068-8143
chr174339773743398854E068-5294
chr174344834443450140E06844196
chr174345067143451350E06846523
chr174345136943451691E06847221
chr174335463643356036E069-48112
chr174336469543364857E069-39291
chr174336498243365085E069-39063
chr174336510943365216E069-38932
chr174336524043365743E069-38405
chr174336574443365904E069-38244
chr174336597343366100E069-38048
chr174336811243368907E069-35241
chr174336891643369133E069-35015
chr174336924743369379E069-34769
chr174336940243369481E069-34667
chr174336954543369660E069-34488
chr174336976543369819E069-34329
chr174336991943370043E069-34105
chr174337014743370559E069-33589
chr174337060143371769E069-32379
chr174337185443372335E069-31813
chr174337242443372474E069-31674
chr174337253143373110E069-31038
chr174337595743377154E069-26994
chr174337747843377817E069-26331
chr174337784043378006E069-26142
chr174337998743380588E069-23560
chr174338292143383756E069-20392
chr174338394043384005E069-20143
chr174338404843384099E069-20049
chr174338467543385753E069-18395
chr174338575643385799E069-18349
chr174338586343385994E069-18154
chr174338640943386459E069-17689
chr174338654043386684E069-17464
chr174338673043386796E069-17352
chr174338691443387367E069-16781
chr174338782143388556E069-15592
chr174338861043391237E069-12911
chr174336469543364857E070-39291
chr174336574443365904E070-38244
chr174336597343366100E070-38048
chr174336614043367057E070-37091
chr174337060143371769E070-32379
chr174337390143374585E070-29563
chr174338292143383756E070-20392
chr174338394043384005E070-20143
chr174338404843384099E070-20049
chr174338411943384291E070-19857
chr174338467543385753E070-18395
chr174342397943424067E07019831
chr174342407943424337E07019931
chr174335463643356036E071-48112
chr174336444143364491E071-39657
chr174336469543364857E071-39291
chr174336498243365085E071-39063
chr174336510943365216E071-38932
chr174336524043365743E071-38405
chr174336574443365904E071-38244
chr174336597343366100E071-38048
chr174336614043367057E071-37091
chr174336714243367219E071-36929
chr174336722943367348E071-36800
chr174336735643367629E071-36519
chr174336764443367762E071-36386
chr174336788243367994E071-36154
chr174336811243368907E071-35241
chr174336891643369133E071-35015
chr174336924743369379E071-34769
chr174336940243369481E071-34667
chr174336954543369660E071-34488
chr174336976543369819E071-34329
chr174336991943370043E071-34105
chr174337014743370559E071-33589
chr174337060143371769E071-32379
chr174337185443372335E071-31813
chr174337242443372474E071-31674
chr174337253143373110E071-31038
chr174337595743377154E071-26994
chr174337747843377817E071-26331
chr174337784043378006E071-26142
chr174337998743380588E071-23560
chr174338292143383756E071-20392
chr174338394043384005E071-20143
chr174338404843384099E071-20049
chr174338411943384291E071-19857
chr174338467543385753E071-18395
chr174338575643385799E071-18349
chr174338691443387367E071-16781
chr174338782143388556E071-15592
chr174338861043391237E071-12911
chr174341027543410867E0716127
chr174341090143411011E0716753
chr174345067143451350E07146523
chr174345136943451691E07147221
chr174335463643356036E072-48112
chr174336000443361027E072-43121
chr174336444143364491E072-39657
chr174336469543364857E072-39291
chr174336498243365085E072-39063
chr174336510943365216E072-38932
chr174336524043365743E072-38405
chr174336574443365904E072-38244
chr174336597343366100E072-38048
chr174336811243368907E072-35241
chr174336891643369133E072-35015
chr174336924743369379E072-34769
chr174336940243369481E072-34667
chr174337014743370559E072-33589
chr174337060143371769E072-32379
chr174337185443372335E072-31813
chr174337242443372474E072-31674
chr174337595743377154E072-26994
chr174337747843377817E072-26331
chr174338292143383756E072-20392
chr174338467543385753E072-18395
chr174338575643385799E072-18349
chr174338586343385994E072-18154
chr174338640943386459E072-17689
chr174338654043386684E072-17464
chr174338673043386796E072-17352
chr174338782143388556E072-15592
chr174338861043391237E072-12911
chr174339625543396457E072-7691
chr174335463643356036E073-48112
chr174336000443361027E073-43121
chr174336469543364857E073-39291
chr174336498243365085E073-39063
chr174336510943365216E073-38932
chr174336524043365743E073-38405
chr174336574443365904E073-38244
chr174336597343366100E073-38048
chr174336614043367057E073-37091
chr174336788243367994E073-36154
chr174336811243368907E073-35241
chr174336891643369133E073-35015
chr174336924743369379E073-34769
chr174336940243369481E073-34667
chr174336954543369660E073-34488
chr174336976543369819E073-34329
chr174336991943370043E073-34105
chr174337014743370559E073-33589
chr174337060143371769E073-32379
chr174337185443372335E073-31813
chr174337242443372474E073-31674
chr174337253143373110E073-31038
chr174337311243373712E073-30436
chr174337376443373882E073-30266
chr174337390143374585E073-29563
chr174337595743377154E073-26994
chr174337998743380588E073-23560
chr174338292143383756E073-20392
chr174338394043384005E073-20143
chr174338404843384099E073-20049
chr174338411943384291E073-19857
chr174338467543385753E073-18395
chr174338782143388556E073-15592
chr174338861043391237E073-12911
chr174339773743398854E073-5294
chr174341364143413957E0739493
chr174342274143423958E07318593
chr174344834443450140E07344196
chr174345016243450228E07346014
chr174335463643356036E074-48112
chr174336444143364491E074-39657
chr174336469543364857E074-39291
chr174336498243365085E074-39063
chr174336510943365216E074-38932
chr174336524043365743E074-38405
chr174336735643367629E074-36519
chr174336764443367762E074-36386
chr174336788243367994E074-36154
chr174336811243368907E074-35241
chr174336891643369133E074-35015
chr174336924743369379E074-34769
chr174336940243369481E074-34667
chr174336954543369660E074-34488
chr174336976543369819E074-34329
chr174336991943370043E074-34105
chr174337014743370559E074-33589
chr174337185443372335E074-31813
chr174337595743377154E074-26994
chr174337747843377817E074-26331
chr174337784043378006E074-26142
chr174338292143383756E074-20392
chr174338394043384005E074-20143
chr174338404843384099E074-20049
chr174338411943384291E074-19857
chr174338467543385753E074-18395
chr174338575643385799E074-18349
chr174338586343385994E074-18154
chr174338640943386459E074-17689
chr174338654043386684E074-17464
chr174338673043386796E074-17352
chr174338691443387367E074-16781
chr174338782143388556E074-15592
chr174338861043391237E074-12911
chr174336469543364857E081-39291
chr174336498243365085E081-39063
chr174336510943365216E081-38932
chr174336524043365743E081-38405
chr174336574443365904E081-38244
chr174336597343366100E081-38048
chr174336614043367057E081-37091
chr174336714243367219E081-36929
chr174336722943367348E081-36800
chr174336735643367629E081-36519
chr174336764443367762E081-36386
chr174336788243367994E081-36154
chr174336811243368907E081-35241
chr174336891643369133E081-35015
chr174336924743369379E081-34769
chr174336940243369481E081-34667
chr174336954543369660E081-34488
chr174336976543369819E081-34329
chr174336991943370043E081-34105
chr174337014743370559E081-33589
chr174337060143371769E081-32379
chr174336469543364857E082-39291
chr174336498243365085E082-39063
chr174336510943365216E082-38932
chr174336524043365743E082-38405
chr174336574443365904E082-38244
chr174336597343366100E082-38048
chr174336735643367629E082-36519
chr174336764443367762E082-36386
chr174336788243367994E082-36154
chr174336811243368907E082-35241
chr174336891643369133E082-35015
chr174336924743369379E082-34769
chr174336940243369481E082-34667
chr174336954543369660E082-34488
chr174337060143371769E082-32379
chr174339570643395906E082-8242










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr174339123843395570E068-8578
chr174339123843395570E069-8578
chr174339123843395570E070-8578
chr174339123843395570E071-8578
chr174339123843395570E082-8578