rs288864

Homo sapiens
A>G
None
Check p-value
SNV (Single Nucleotide Variation)
G=0482 (14440/29928,GnomAD)
G=0437 (12741/29118,TOPMED)
G=0422 (2113/5008,1000G)
A==0478 (1841/3854,ALSPAC)
A==0470 (1744/3708,TWINSUK)
chr5:74132218 (GRCh38.p7) (5q13.3)
AD
GWASdb2
1   publication(s)
See rs on genome
52 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.74132218A>G
GRCh37.p13 chr 5NC_000005.9:g.73428043A>G

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.669G=0.331
1000GenomesAmericanSub694A=0.620G=0.380
1000GenomesEast AsianSub1008A=0.598G=0.402
1000GenomesEuropeSub1006A=0.465G=0.535
1000GenomesGlobalStudy-wide5008A=0.578G=0.422
1000GenomesSouth AsianSub978A=0.520G=0.480
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.478G=0.522
The Genome Aggregation DatabaseAfricanSub8706A=0.610G=0.390
The Genome Aggregation DatabaseAmericanSub836A=0.600G=0.400
The Genome Aggregation DatabaseEast AsianSub1614A=0.649G=0.351
The Genome Aggregation DatabaseEuropeSub18470A=0.458G=0.541
The Genome Aggregation DatabaseGlobalStudy-wide29928A=0.517G=0.482
The Genome Aggregation DatabaseOtherSub302A=0.520G=0.480
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.562G=0.437
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.470G=0.530
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs2888640.00068alcohol dependence20201924

eQTL of rs288864 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 rs288864 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 )
chr57346323073463611E06735187
chr57346323073463611E06935187
chr57342324473423591E070-4452
chr57342359673424209E070-3834
chr57342486173424939E070-3104
chr57342718373427383E070-660
chr57344398573444120E07015942
chr57344421873444435E07016175
chr57346037073461338E07132327
chr57346323073463611E07135187
chr57346323073463611E07235187
chr57339544773395824E081-32219
chr57339583373395981E081-32062
chr57340758873407638E081-20405
chr57340775073407816E081-20227
chr57340865373409318E081-18725
chr57340936273409531E081-18512
chr57340955373409624E081-18419
chr57340985073410050E081-17993
chr57342324473423591E081-4452
chr57342359673424209E081-3834
chr57342486173424939E081-3104
chr57342559473425661E081-2382
chr57342718373427383E081-660
chr57342762873427688E081-355
chr57342774973427809E081-234
chr57342786073427914E081-129
chr57343465673434897E0816613
chr57343956973439938E08111526
chr57344398573444120E08115942
chr57344421873444435E08116175
chr57344530173445578E08117258
chr57345952373459708E08131480
chr57345986373460311E08131820
chr57346037073461338E08132327
chr57347389173474420E08145848
chr57339544773395824E082-32219
chr57339583373395981E082-32062
chr57340865373409318E082-18725
chr57340985073410050E082-17993
chr57342324473423591E082-4452
chr57342359673424209E082-3834
chr57342718373427383E082-660
chr57342762873427688E082-355
chr57342774973427809E082-234
chr57342786073427914E082-129
chr57344270673442998E08214663
chr57344300073443200E08214957
chr57344421873444435E08216175
chr57344530173445578E08217258
chr57347389173474420E08245848
chr57347465373474761E08246610