rs7251796

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0332 (9756/29316,GnomAD)
T=0389 (11342/29118,TOPMED)
T=0399 (1998/5008,1000G)
T=0184 (709/3854,ALSPAC)
T=0184 (683/3708,TWINSUK)
chr19:14024844 (GRCh38.p7) (19p13.12)
AD
GWASdb2
1   publication(s)
See rs on genome
88 Enhancers around
25 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 19NC_000019.10:g.14024844C>T
GRCh37.p13 chr 19NC_000019.9:g.14135656C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.331T=0.669
1000GenomesAmericanSub694C=0.770T=0.230
1000GenomesEast AsianSub1008C=0.623T=0.377
1000GenomesEuropeSub1006C=0.827T=0.173
1000GenomesGlobalStudy-wide5008C=0.601T=0.399
1000GenomesSouth AsianSub978C=0.600T=0.400
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.816T=0.184
The Genome Aggregation DatabaseAfricanSub8602C=0.365T=0.635
The Genome Aggregation DatabaseAmericanSub834C=0.750T=0.250
The Genome Aggregation DatabaseEast AsianSub1600C=0.552T=0.448
The Genome Aggregation DatabaseEuropeSub17980C=0.815T=0.184
The Genome Aggregation DatabaseGlobalStudy-wide29316C=0.667T=0.332
The Genome Aggregation DatabaseOtherSub300C=0.830T=0.170
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.610T=0.389
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.816T=0.184
PMID Title Author Journal
23743675A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.Kapoor MHum Genet

P-Value

SNP ID p-value Traits Study
rs72517962.34E-05alcohol consumption23743675

eQTL of rs7251796 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 rs7251796 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 )
chr191410331014103398E067-32258
chr191410510614105156E067-30500
chr191410524214105294E067-30362
chr191410586214106484E067-29172
chr191411319714113981E067-21675
chr191411400114114804E067-20852
chr191411486514114927E067-20729
chr191411501114115127E067-20529
chr191411522814115339E067-20317
chr191415322114153441E06717565
chr191415391114154328E06718255
chr191409912814099231E068-36425
chr191409923414099351E068-36305
chr191411400114114804E068-20852
chr191411486514114927E068-20729
chr191409912814099231E069-36425
chr191409923414099351E069-36305
chr191409935314099525E069-36131
chr191409984514100006E069-35650
chr191410510614105156E069-30500
chr191411319714113981E069-21675
chr191411400114114804E069-20852
chr191411486514114927E069-20729
chr191415391114154328E06918255
chr191416982414170155E06934168
chr191409115614091566E071-44090
chr191409159014091665E071-43991
chr191409172714092135E071-43521
chr191409912814099231E071-36425
chr191409923414099351E071-36305
chr191409935314099525E071-36131
chr191409984514100006E071-35650
chr191410331014103398E071-32258
chr191410359414103682E071-31974
chr191410381214103885E071-31771
chr191410423214104282E071-31374
chr191410432114104371E071-31285
chr191410445014104949E071-30707
chr191410510614105156E071-30500
chr191411319714113981E071-21675
chr191411400114114804E071-20852
chr191411486514114927E071-20729
chr191411501114115127E071-20529
chr191411522814115339E071-20317
chr191415344314153846E07117787
chr191409912814099231E072-36425
chr191409923414099351E072-36305
chr191409935314099525E072-36131
chr191409984514100006E072-35650
chr191410423214104282E072-31374
chr191410432114104371E072-31285
chr191410445014104949E072-30707
chr191410510614105156E072-30500
chr191410524214105294E072-30362
chr191410586214106484E072-29172
chr191411296014113030E072-22626
chr191411319714113981E072-21675
chr191411400114114804E072-20852
chr191411486514114927E072-20729
chr191411501114115127E072-20529
chr191411522814115339E072-20317
chr191415344314153846E07217787
chr191415391114154328E07218255
chr191418158614181708E07245930
chr191418176014181852E07246104
chr191409590714098932E073-36724
chr191409912814099231E073-36425
chr191409923414099351E073-36305
chr191409935314099525E073-36131
chr191410213814102188E073-33468
chr191410236714102489E073-33167
chr191410280714102863E073-32793
chr191410331014103398E073-32258
chr191410359414103682E073-31974
chr191410510614105156E073-30500
chr191411319714113981E073-21675
chr191411400114114804E073-20852
chr191411486514114927E073-20729
chr191411501114115127E073-20529
chr191411522814115339E073-20317
chr191415391114154328E07318255
chr191409912814099231E074-36425
chr191409923414099351E074-36305
chr191409935314099525E074-36131
chr191411319714113981E074-21675
chr191411400114114804E074-20852
chr191411522814115339E074-20317
chr191411522814115339E081-20317








Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr191411538514118373E067-17283
chr191414168814143550E0676032
chr191411538514118373E068-17283
chr191414168814143550E0686032
chr191416761014168861E06831954
chr191411538514118373E069-17283
chr191414168814143550E0696032
chr191416761014168861E06931954
chr191411538514118373E070-17283
chr191414168814143550E0706032
chr191416761014168861E07031954
chr191411538514118373E071-17283
chr191414168814143550E0716032
chr191416761014168861E07131954
chr191411538514118373E072-17283
chr191414168814143550E0726032
chr191416761014168861E07231954
chr191411538514118373E073-17283
chr191414168814143550E0736032
chr191416761014168861E07331954
chr191411538514118373E074-17283
chr191414168814143550E0746032
chr191411538514118373E082-17283
chr191414168814143550E0826032
chr191416761014168861E08231954