rs4236943

Homo sapiens
G>A
None
Check p-value
SNV (Single Nucleotide Variation)
A=0124 (3735/29950,GnomAD)
A=0108 (3154/29118,TOPMED)
A=0168 (839/5008,1000G)
A=0170 (655/3854,ALSPAC)
A=0167 (618/3708,TWINSUK)
chr8:65585325 (GRCh38.p7) (8q13.1)
AD
GWASdb2
1   publication(s)
See rs on genome
89 Enhancers around
38 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.65585325G>A
GRCh37.p13 chr 8NC_000008.10:g.66497560G>A

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.986A=0.014
1000GenomesAmericanSub694G=0.810A=0.190
1000GenomesEast AsianSub1008G=0.669A=0.331
1000GenomesEuropeSub1006G=0.856A=0.144
1000GenomesGlobalStudy-wide5008G=0.832A=0.168
1000GenomesSouth AsianSub978G=0.790A=0.210
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.830A=0.170
The Genome Aggregation DatabaseAfricanSub8722G=0.970A=0.030
The Genome Aggregation DatabaseAmericanSub838G=0.790A=0.210
The Genome Aggregation DatabaseEast AsianSub1616G=0.628A=0.372
The Genome Aggregation DatabaseEuropeSub18472G=0.856A=0.143
The Genome Aggregation DatabaseGlobalStudy-wide29950G=0.875A=0.124
The Genome Aggregation DatabaseOtherSub302G=0.870A=0.130
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.891A=0.108
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.833A=0.167
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
rs42369430.00024alcohol consumption (maxi-drinks)24277619

eQTL of rs4236943 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr8:66497560CTD-3025N20.2ENSG00000254081.1G>A1.2966e-922545Cerebellum
Chr8:66497560MTFR1ENSG00000066855.11G>A7.4916e-3-59409Cerebellum
Chr8:66497560CTD-3025N20.2ENSG00000254081.1G>A1.8786e-922545Cortex
Chr8:66497560CTD-3025N20.2ENSG00000254081.1G>A5.5758e-1522545Caudate_basal_ganglia
Chr8:66497560ARMC1ENSG00000104442.5G>A6.0849e-5-48882Brain_Spinal_cord_cervical
Chr8:66497560CTD-3025N20.2ENSG00000254081.1G>A2.3032e-622545Hippocampus
Chr8:66497560CTD-3025N20.3ENSG00000272010.1G>A2.6254e-9-7147Hippocampus
Chr8:66497560CTD-3025N20.2ENSG00000254081.1G>A2.6059e-1222545Putamen_basal_ganglia
Chr8:66497560CTD-3025N20.2ENSG00000254081.1G>A8.3421e-822545Nucleus_accumbens_basal_ganglia
Chr8:66497560ARMC1ENSG00000104442.5G>A2.0443e-11-48882Nucleus_accumbens_basal_ganglia

meQTL of rs4236943 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 )
chr86645173666452050E067-45510
chr86645211866452495E067-45065
chr86647310966473500E067-24060
chr86649689166496998E067-562
chr86649720666497275E067-285
chr86649729666497385E067-175
chr86649801666498746E067456
chr86649907766499235E0671517
chr86650309866503593E0675538
chr86650954066509718E06711980
chr86651139266511500E06713832
chr86651189966512004E06714339
chr86651222666512350E06714666
chr86651235966512399E06714799
chr86649801666498746E068456
chr86649907766499235E0681517
chr86645173666452050E069-45510
chr86649689166496998E069-562
chr86649720666497275E069-285
chr86649729666497385E069-175
chr86649801666498746E069456
chr86649907766499235E0691517
chr86649926666499375E0691706
chr86650954066509718E06911980
chr86651139266511500E06913832
chr86651168166511721E06914121
chr86651189966512004E06914339
chr86651222666512350E06914666
chr86651235966512399E06914799
chr86654504666545096E06947486
chr86646226666462407E070-35153
chr86654504666545096E07047486
chr86645211866452495E071-45065
chr86649689166496998E071-562
chr86649720666497275E071-285
chr86649729666497385E071-175
chr86649801666498746E071456
chr86649907766499235E0711517
chr86649926666499375E0711706
chr86650227866502411E0714718
chr86650250066502586E0714940
chr86650309866503593E0715538
chr86650392566503975E0716365
chr86650482766504886E0717267
chr86650500066505060E0717440
chr86650555066505621E0717990
chr86651139266511500E07113832
chr86651168166511721E07114121
chr86651189966512004E07114339
chr86651222666512350E07114666
chr86651235966512399E07114799
chr86645173666452050E072-45510
chr86645211866452495E072-45065
chr86649689166496998E072-562
chr86649720666497275E072-285
chr86649729666497385E072-175
chr86649801666498746E072456
chr86649907766499235E0721517
chr86649926666499375E0721706
chr86651139266511500E07213832
chr86651168166511721E07214121
chr86651189966512004E07214339
chr86651222666512350E07214666
chr86651235966512399E07214799
chr86649689166496998E073-562
chr86649720666497275E073-285
chr86649729666497385E073-175
chr86651222666512350E07314666
chr86651235966512399E07314799
chr86649720666497275E074-285
chr86649729666497385E074-175
chr86649801666498746E074456
chr86649907766499235E0741517
chr86651139266511500E07413832
chr86651168166511721E07414121
chr86651189966512004E07414339
chr86651222666512350E07414666
chr86651235966512399E07414799
chr86646226666462407E081-35153
chr86647310966473500E081-24060
chr86650309866503593E0815538
chr86650392566503975E0816365
chr86646226666462407E082-35153
chr86646851266468569E082-28991
chr86647310966473500E082-24060
chr86650227866502411E0824718
chr86650309866503593E0825538
chr86650392566503975E0826365
chr86654504666545096E08247486










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr86647260766473095E067-24465
chr86647402466474713E067-22847
chr86647479166475017E067-22543
chr86654562466547016E06748064
chr86654715966547325E06749599
chr86647260766473095E068-24465
chr86647402466474713E068-22847
chr86647479166475017E068-22543
chr86654562466547016E06848064
chr86654715966547325E06849599
chr86647260766473095E069-24465
chr86647479166475017E069-22543
chr86654562466547016E06948064
chr86654715966547325E06949599
chr86654562466547016E07048064
chr86654715966547325E07049599
chr86647260766473095E071-24465
chr86647402466474713E071-22847
chr86647479166475017E071-22543
chr86654562466547016E07148064
chr86654715966547325E07149599
chr86647260766473095E072-24465
chr86647402466474713E072-22847
chr86647479166475017E072-22543
chr86654562466547016E07248064
chr86654715966547325E07249599
chr86647260766473095E073-24465
chr86654562466547016E07348064
chr86654715966547325E07349599
chr86647260766473095E074-24465
chr86647479166475017E074-22543
chr86654562466547016E07448064
chr86654715966547325E07449599
chr86654562466547016E08148064
chr86654715966547325E08149599
chr86647260766473095E082-24465
chr86654562466547016E08248064
chr86654715966547325E08249599