rs2447947

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0460 (13668/29678,GnomAD)
C=0456 (13305/29118,TOPMED)
T==0445 (2229/5008,1000G)
C=0408 (1574/3854,ALSPAC)
C=0396 (1468/3708,TWINSUK)
chr11:76232496 (GRCh38.p7) (11q13.5)
AD
GWASdb2
1   publication(s)
See rs on genome
51 Enhancers around
23 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.76232496T>C
GRCh37.p13 chr 11NC_000011.9:g.75943540T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.522C=0.478
1000GenomesAmericanSub694T=0.460C=0.540
1000GenomesEast AsianSub1008T=0.206C=0.794
1000GenomesEuropeSub1006T=0.591C=0.409
1000GenomesGlobalStudy-wide5008T=0.445C=0.555
1000GenomesSouth AsianSub978T=0.420C=0.580
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.592C=0.408
The Genome Aggregation DatabaseAfricanSub8636T=0.528C=0.472
The Genome Aggregation DatabaseAmericanSub834T=0.450C=0.550
The Genome Aggregation DatabaseEast AsianSub1608T=0.208C=0.792
The Genome Aggregation DatabaseEuropeSub18300T=0.577C=0.422
The Genome Aggregation DatabaseGlobalStudy-wide29678T=0.539C=0.460
The Genome Aggregation DatabaseOtherSub300T=0.580C=0.420
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.543C=0.456
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.604C=0.396
PMID Title Author Journal
22481050Genetic influences on craving for alcohol.Agrawal AAddict Behav

P-Value

SNP ID p-value Traits Study
rs24479471.6E-05alcohol craving with or without dependence22481050

eQTL of rs2447947 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 rs2447947 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 )
chr117597402175974075E06730481
chr117597437475974556E06730834
chr117597473675975113E06731196
chr117592758175927924E069-15616
chr117592798675928089E069-15451
chr117594431175944550E069771
chr117594458675944657E0691046
chr117596447475964749E06920934
chr117596484475964894E06921304
chr117596500975965087E06921469
chr117597402175974075E06930481
chr117597437475974556E06930834
chr117597473675975113E06931196
chr117598034075982338E07036800
chr117592702775927262E071-16278
chr117592730975927531E071-16009
chr117592758175927924E071-15616
chr117597402175974075E07130481
chr117597437475974556E07130834
chr117597473675975113E07131196
chr117596447475964749E07220934
chr117596484475964894E07221304
chr117597402175974075E07230481
chr117597437475974556E07230834
chr117597473675975113E07231196
chr117589660575897496E073-46044
chr117589660575897496E074-46044
chr117597357775973632E07430037
chr117597402175974075E07430481
chr117597437475974556E07430834
chr117597473675975113E07431196
chr117589660575897496E081-46044
chr117589756875898403E081-45137
chr117591513075915229E081-28311
chr117591523175915292E081-28248
chr117591537075915440E081-28100
chr117595488775955130E08111347
chr117596750375967728E08123963
chr117596776575968075E08124225
chr117596815175968433E08124611
chr117596844775968802E08124907
chr117597111475971179E08127574
chr117597148675971584E08127946
chr117597167475971849E08128134
chr117597790775978021E08134367
chr117597811275978277E08134572
chr117597832375978399E08134783
chr117597841575978480E08134875
chr117597858075979071E08135040
chr117597913075979305E08135590
chr117595409675954177E08210556









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr117591624175918245E067-25295
chr117591832175923153E067-20387
chr117594467275948738E0671132
chr117591624175918245E068-25295
chr117591832175923153E068-20387
chr117594467275948738E0681132
chr117591832175923153E069-20387
chr117594467275948738E0691132
chr117594467275948738E0701132
chr117591832175923153E071-20387
chr117594467275948738E0711132
chr117591832175923153E072-20387
chr117594467275948738E0721132
chr117591624175918245E073-25295
chr117591832175923153E073-20387
chr117594467275948738E0731132
chr117591624175918245E074-25295
chr117591832175923153E074-20387
chr117594467275948738E0741132
chr117594467275948738E0811132
chr117591624175918245E082-25295
chr117591832175923153E082-20387
chr117594467275948738E0821132