rs2249724

Homo sapiens
A>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0438 (13116/29896,GnomAD)
C=0478 (13923/29116,TOPMED)
C=0464 (2324/5008,1000G)
C=0326 (1256/3854,ALSPAC)
C=0328 (1215/3708,TWINSUK)
chr2:6095076 (GRCh38.p7) (2p25.2)
AD
GWASdb2
1   publication(s)
See rs on genome
137 Enhancers around
9 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.6095076A>C
GRCh37.p13 chr 2NC_000002.11:g.6235208A>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.238C=0.762
1000GenomesAmericanSub694A=0.510C=0.490
1000GenomesEast AsianSub1008A=0.749C=0.251
1000GenomesEuropeSub1006A=0.679C=0.321
1000GenomesGlobalStudy-wide5008A=0.536C=0.464
1000GenomesSouth AsianSub978A=0.590C=0.410
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.674C=0.326
The Genome Aggregation DatabaseAfricanSub8708A=0.320C=0.680
The Genome Aggregation DatabaseAmericanSub834A=0.570C=0.430
The Genome Aggregation DatabaseEast AsianSub1618A=0.744C=0.256
The Genome Aggregation DatabaseEuropeSub18434A=0.657C=0.342
The Genome Aggregation DatabaseGlobalStudy-wide29896A=0.561C=0.438
The Genome Aggregation DatabaseOtherSub302A=0.650C=0.350
Trans-Omics for Precision MedicineGlobalStudy-wide29116A=0.521C=0.478
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.672C=0.328
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
rs22497240.000622alcohol consumption (maxi-drinks)24277619

eQTL of rs2249724 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 rs2249724 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 )
chr262130456213136E068-22072
chr262132386213382E068-21826
chr262147866214867E068-20341
chr262229006223167E068-12041
chr262233186223673E068-11535
chr262130456213136E069-22072
chr262132386213382E069-21826
chr262143126214399E069-20809
chr262144626214733E069-20475
chr262225526222759E069-12449
chr262229006223167E069-12041
chr261926526192756E070-42452
chr261928686193048E070-42160
chr261935846193663E070-41545
chr261937816193849E070-41359
chr261939896194103E070-41105
chr261942086194785E070-40423
chr261947906195191E070-40017
chr261953376195387E070-39821
chr261958136195962E070-39246
chr262000216200190E070-35018
chr262002826200381E070-34827
chr262007546200967E070-34241
chr262012036201290E070-33918
chr262015376201639E070-33569
chr262020016202112E070-33096
chr262024516202600E070-32608
chr262083296208419E070-26789
chr262084356208507E070-26701
chr262085626208885E070-26323
chr262090316209111E070-26097
chr262092176209353E070-25855
chr262095376209788E070-25420
chr262098156209973E070-25235
chr262101506210262E070-24946
chr262105256210608E070-24600
chr262116476212078E070-23130
chr262122356212356E070-22852
chr262123976212768E070-22440
chr262130456213136E070-22072
chr262132386213382E070-21826
chr262147866214867E070-20341
chr262150876215215E070-19993
chr262155336215590E070-19618
chr262165006216577E070-18631
chr262168386216949E070-18259
chr262171486217249E070-17959
chr262175736218043E070-17165
chr262180506218478E070-16730
chr262185606218622E070-16586
chr262186916218789E070-16419
chr262192416219381E070-15827
chr262195096219595E070-15613
chr262225526222759E070-12449
chr262229006223167E070-12041
chr262233186223673E070-11535
chr262519246252445E07016716
chr262130456213136E071-22072
chr262132386213382E071-21826
chr262144626214733E071-20475
chr262123976212768E072-22440
chr262130456213136E072-22072
chr262132386213382E072-21826
chr262144626214733E072-20475
chr262233186223673E072-11535
chr262539766254316E07218768
chr262130456213136E074-22072
chr262132386213382E074-21826
chr262144626214733E074-20475
chr262225526222759E074-12449
chr262229006223167E074-12041
chr261926526192756E081-42452
chr261928686193048E081-42160
chr261935846193663E081-41545
chr261937816193849E081-41359
chr261939896194103E081-41105
chr261942086194785E081-40423
chr261947906195191E081-40017
chr261953376195387E081-39821
chr261956216195699E081-39509
chr261958136195962E081-39246
chr261960556196162E081-39046
chr261963466196431E081-38777
chr261966346196755E081-38453
chr261967906197038E081-38170
chr262047486204834E081-30374
chr262049396205309E081-29899
chr262054386205530E081-29678
chr262095376209788E081-25420
chr262098156209973E081-25235
chr262101506210262E081-24946
chr262116476212078E081-23130
chr262122356212356E081-22852
chr262123976212768E081-22440
chr262130456213136E081-22072
chr262132386213382E081-21826
chr262133866214238E081-20970
chr262143126214399E081-20809
chr262144626214733E081-20475
chr262147866214867E081-20341
chr262150876215215E081-19993
chr262185606218622E081-16586
chr262186916218789E081-16419
chr262192416219381E081-15827
chr262195096219595E081-15613
chr262196856219882E081-15326
chr262225526222759E081-12449
chr262229006223167E081-12041
chr262233186223673E081-11535
chr262519246252445E08116716
chr262528076252967E08117599
chr261937816193849E082-41359
chr261939896194103E082-41105
chr261947906195191E082-40017
chr261953376195387E082-39821
chr261967906197038E082-38170
chr262047486204834E082-30374
chr262049396205309E082-29899
chr262083296208419E082-26789
chr262095376209788E082-25420
chr262098156209973E082-25235
chr262101506210262E082-24946
chr262105256210608E082-24600
chr262116476212078E082-23130
chr262122356212356E082-22852
chr262123976212768E082-22440
chr262147866214867E082-20341
chr262150876215215E082-19993
chr262155336215590E082-19618
chr262165006216577E082-18631
chr262192416219381E082-15827
chr262195096219595E082-15613
chr262225526222759E082-12449
chr262229006223167E082-12041
chr262233186223673E082-11535
chr262519246252445E08216716
chr262528076252967E08217599








Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr262211356221921E067-13287
chr262211356221921E068-13287
chr262211356221921E069-13287
chr262211356221921E070-13287
chr262211356221921E071-13287
chr262211356221921E072-13287
chr262211356221921E073-13287
chr262211356221921E074-13287
chr262211356221921E082-13287