rs11099240

Homo sapiens
G>A / G>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0158 (4736/29928,GnomAD)
T=0167 (838/5008,1000G)
T=0126 (484/3854,ALSPAC)
T=0123 (455/3708,TWINSUK)
chr4:133436700 (GRCh38.p7) (4q28.3)
AD
GWASdb2
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.133436700G>A
GRCh38.p7 chr 4NC_000004.12:g.133436700G>T
GRCh37.p13 chr 4NC_000004.11:g.134357855G>A
GRCh37.p13 chr 4NC_000004.11:g.134357855G>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.654T=0.346
1000GenomesAmericanSub694G=0.870T=0.130
1000GenomesEast AsianSub1008G=0.923T=0.077
1000GenomesEuropeSub1006G=0.863T=0.137
1000GenomesGlobalStudy-wide5008G=0.833T=0.167
1000GenomesSouth AsianSub978G=0.920T=0.080
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.874T=0.126
The Genome Aggregation DatabaseAfricanSub8712G=0.695T=0.305
The Genome Aggregation DatabaseAmericanSub838G=0.890T=0.11,
The Genome Aggregation DatabaseEast AsianSub1604G=0.911T=0.089
The Genome Aggregation DatabaseEuropeSub18472G=0.903T=0.096
The Genome Aggregation DatabaseGlobalStudy-wide29928G=0.841T=0.158
The Genome Aggregation DatabaseOtherSub302G=0.830T=0.17,
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.877T=0.123
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
rs110992400.00065alcohol consumption (maxi-drinks)24277619

eQTL of rs11099240 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 rs11099240 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 )
chr45796793257968809E067-30058
chr45797149157971583E067-27284
chr45798516557985870E067-12997
chr45802357058023649E06724703
chr45802387458024090E06725007
chr45802426658024378E06725399
chr45802447658024640E06725609
chr45802506258025167E06726195
chr45804843158048602E06749564
chr45796460757965822E068-33045
chr45796793257968809E068-30058
chr45796884457969784E068-29083
chr45797096257971439E068-27428
chr45797149157971583E068-27284
chr45797168657971826E068-27041
chr45797843157978880E068-19987
chr45798035857980408E068-18459
chr45798516557985870E068-12997
chr45798591057986004E068-12863
chr45802357058023649E06824703
chr45802387458024090E06825007
chr45802426658024378E06825399
chr45802447658024640E06825609
chr45802506258025167E06826195
chr45804843158048602E06849564
chr45796735957967465E069-31402
chr45796758457967772E069-31095
chr45796782657967912E069-30955
chr45796793257968809E069-30058
chr45796884457969784E069-29083
chr45798516557985870E069-12997
chr45798591057986004E069-12863
chr45799815157998298E069-569
chr45799831657998764E069-103
chr45799904757999128E069180
chr45802357058023649E06924703
chr45802387458024090E06925007
chr45802426658024378E06925399
chr45802447658024640E06925609
chr45802506258025167E06926195
chr45803081758030956E06931950
chr45803450458034673E06935637
chr45803475758035143E06935890
chr45803584658035933E06936979
chr45804843158048602E06949564
chr45802357058023649E07024703
chr45802387458024090E07025007
chr45802426658024378E07025399
chr45796793257968809E071-30058
chr45796884457969784E071-29083
chr45797096257971439E071-27428
chr45797149157971583E071-27284
chr45797168657971826E071-27041
chr45798591057986004E071-12863
chr45799815157998298E071-569
chr45799831657998764E071-103
chr45802447658024640E07125609
chr45803081758030956E07131950
chr45803450458034673E07135637
chr45803475758035143E07135890
chr45804843158048602E07149564
chr45796793257968809E072-30058
chr45796884457969784E072-29083
chr45797096257971439E072-27428
chr45797149157971583E072-27284
chr45797168657971826E072-27041
chr45798516557985870E072-12997
chr45799815157998298E072-569
chr45799831657998764E072-103
chr45802357058023649E07224703
chr45802387458024090E07225007
chr45802426658024378E07225399
chr45802447658024640E07225609
chr45802506258025167E07226195
chr45803475758035143E07235890
chr45804843158048602E07249564
chr45795633257956539E073-42328
chr45795781057958229E073-40638
chr45796793257968809E073-30058
chr45796884457969784E073-29083
chr45797096257971439E073-27428
chr45797149157971583E073-27284
chr45799815157998298E073-569
chr45802426658024378E07325399
chr45802447658024640E07325609
chr45804843158048602E07349564
chr45795600757956061E074-42806
chr45795633257956539E074-42328
chr45796884457969784E074-29083
chr45797096257971439E074-27428
chr45797149157971583E074-27284
chr45798035857980408E074-18459
chr45798516557985870E074-12997
chr45799815157998298E074-569
chr45799831657998764E074-103
chr45802387458024090E07425007
chr45802426658024378E07425399
chr45802447658024640E07425609
chr45802506258025167E07426195
chr45803081758030956E07431950
chr45803450458034673E07435637
chr45803475758035143E07435890
chr45803522458035458E07436357
chr45803584658035933E07436979
chr45804843158048602E07449564
chr45796793257968809E081-30058
chr45796884457969784E081-29083
chr45796989957969950E081-28917
chr45797012457970213E081-28654
chr45802357058023649E08124703
chr45802387458024090E08125007
chr45802426658024378E08125399
chr45802357058023649E08224703
chr45802387458024090E08225007










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr45797553557975632E067-23235
chr45797567057977701E067-21166
chr45802965358030610E06730786
chr45797379157973878E068-24989
chr45797446757974537E068-24330
chr45797455257974626E068-24241
chr45797473257974782E068-24085
chr45797499757975433E068-23434
chr45797553557975632E068-23235
chr45797567057977701E068-21166
chr45802965358030610E06830786
chr45797499757975433E069-23434
chr45797553557975632E069-23235
chr45797567057977701E069-21166
chr45802965358030610E06930786
chr45802965358030610E07030786
chr45797342557973489E071-25378
chr45797358657973691E071-25176
chr45797379157973878E071-24989
chr45797446757974537E071-24330
chr45797455257974626E071-24241
chr45797473257974782E071-24085
chr45797499757975433E071-23434
chr45797553557975632E071-23235
chr45797567057977701E071-21166
chr45802965358030610E07130786
chr45797499757975433E072-23434
chr45797553557975632E072-23235
chr45797567057977701E072-21166
chr45802965358030610E07230786
chr45797499757975433E073-23434
chr45797553557975632E073-23235
chr45797567057977701E073-21166
chr45802965358030610E07330786
chr45797499757975433E074-23434
chr45797553557975632E074-23235
chr45797567057977701E074-21166
chr45802965358030610E07430786
chr45797553557975632E082-23235
chr45797567057977701E082-21166
chr45802965358030610E08230786