rs12947697

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0043 (1309/29978,GnomAD)
T=0035 (1043/29116,TOPMED)
T=0028 (139/5008,1000G)
T=0064 (246/3854,ALSPAC)
T=0063 (233/3708,TWINSUK)
chr17:7186298 (GRCh38.p7) (17p13.1)
AD
GWASdb2
1   publication(s)
See rs on genome
87 Enhancers around
42 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 17NC_000017.11:g.7186298C>T
GRCh37.p13 chr 17NC_000017.10:g.7089617C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.999T=0.001
1000GenomesAmericanSub694C=0.960T=0.040
1000GenomesEast AsianSub1008C=1.000T=0.000
1000GenomesEuropeSub1006C=0.934T=0.066
1000GenomesGlobalStudy-wide5008C=0.972T=0.028
1000GenomesSouth AsianSub978C=0.950T=0.050
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.936T=0.064
The Genome Aggregation DatabaseAfricanSub8728C=0.989T=0.011
The Genome Aggregation DatabaseAmericanSub838C=0.970T=0.030
The Genome Aggregation DatabaseEast AsianSub1622C=0.999T=0.001
The Genome Aggregation DatabaseEuropeSub18488C=0.936T=0.063
The Genome Aggregation DatabaseGlobalStudy-wide29978C=0.956T=0.043
The Genome Aggregation DatabaseOtherSub302C=0.960T=0.040
Trans-Omics for Precision MedicineGlobalStudy-wide29116C=0.964T=0.035
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.937T=0.063
PMID Title Author Journal
22481050Genetic influences on craving for alcohol.Agrawal AAddict Behav

P-Value

SNP ID p-value Traits Study
rs129476973.19E-05alcohol craving with or without dependence22481050

eQTL of rs12947697 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 rs12947697 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 )
chr1771352937135357E06745676
chr1770492317049281E068-40336
chr1770495647049759E068-39858
chr1770501747050283E068-39334
chr1771095407109646E06819923
chr1771096907110435E06820073
chr1771105147112172E06820897
chr1771121897112537E06822572
chr1771126277112799E06823010
chr1771128697112913E06823252
chr1771133617113573E06823744
chr1771135887113638E06823971
chr1771137087113764E06824091
chr1771138297113962E06824212
chr1771140297114215E06824412
chr1771322387132376E06842621
chr1771386397139429E06849022
chr1770772087078770E069-10847
chr1770787947079094E069-10523
chr1771095407109646E06919923
chr1771105147112172E06920897
chr1771121897112537E06922572
chr1771352937135357E06945676
chr1771353607135528E06945743
chr1770769997077115E070-12502
chr1770772087078770E070-10847
chr1770787947079094E070-10523
chr1771068767107128E07017259
chr1771096907110435E07020073
chr1771105147112172E07020897
chr1771121897112537E07022572
chr1771164707116558E07026853
chr1771352937135357E07045676
chr1771091097109430E07119492
chr1771095407109646E07119923
chr1771352937135357E07145676
chr1771353607135528E07145743
chr1770772087078770E072-10847
chr1770787947079094E072-10523
chr1771068767107128E07217259
chr1771096907110435E07220073
chr1771105147112172E07220897
chr1771121897112537E07222572
chr1771126277112799E07223010
chr1771353607135528E07245743
chr1771105147112172E07320897
chr1771121897112537E07322572
chr1771126277112799E07323010
chr1771352937135357E07445676
chr1771353607135528E07445743
chr1770772087078770E081-10847
chr1770946137095371E0814996
chr1770953817095461E0815764
chr1770955587095885E0815941
chr1770960617096122E0816444
chr1770962437096283E0816626
chr1770965157096559E0816898
chr1770966547096727E0817037
chr1770967817096869E0817164
chr1771065917106828E08116974
chr1771068767107128E08117259
chr1771091097109430E08119492
chr1771095407109646E08119923
chr1771105147112172E08120897
chr1771140297114215E08124412
chr1771142677114410E08124650
chr1771144827116171E08124865
chr1771164707116558E08126853
chr1771343727134481E08144755
chr1771352937135357E08145676
chr1771353607135528E08145743
chr1770772087078770E082-10847
chr1770787947079094E082-10523
chr1770946137095371E0824996
chr1770953817095461E0825764
chr1770955587095885E0825941
chr1770960617096122E0826444
chr1770962437096283E0826626
chr1770965157096559E0826898
chr1770966547096727E0827037
chr1770967817096869E0827164
chr1771064267106537E08216809
chr1771065917106828E08216974
chr1771068767107128E08217259
chr1771096907110435E08220073
chr1771105147112172E08220897
chr1771348757134974E08245258










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1770799647080259E067-9358
chr1770802837081901E067-7716
chr1771071407109069E06717523
chr1771368457136948E06747228
chr1771370167138526E06747399
chr1771071407109069E06817523
chr1771368457136948E06847228
chr1771370167138526E06847399
chr1770802837081901E069-7716
chr1771071407109069E06917523
chr1771368457136948E06947228
chr1771370167138526E06947399
chr1770799647080259E070-9358
chr1770802837081901E070-7716
chr1771071407109069E07017523
chr1771368457136948E07047228
chr1771370167138526E07047399
chr1770802837081901E071-7716
chr1771071407109069E07117523
chr1771368457136948E07147228
chr1771370167138526E07147399
chr1770799647080259E072-9358
chr1770802837081901E072-7716
chr1771071407109069E07217523
chr1771368457136948E07247228
chr1771370167138526E07247399
chr1770799647080259E073-9358
chr1770802837081901E073-7716
chr1771071407109069E07317523
chr1771368457136948E07347228
chr1771370167138526E07347399
chr1771071407109069E07417523
chr1771368457136948E07447228
chr1771370167138526E07447399
chr1770799647080259E081-9358
chr1770802837081901E081-7716
chr1771368457136948E08147228
chr1770799647080259E082-9358
chr1770802837081901E082-7716
chr1771071407109069E08217523
chr1771368457136948E08247228
chr1771370167138526E08247399