rs7805247

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
C==0117 (3528/29964,GnomAD)
C==0095 (2783/29118,TOPMED)
C==0053 (266/5008,1000G)
C==0158 (608/3854,ALSPAC)
C==0162 (601/3708,TWINSUK)
chr7:3070425 (GRCh38.p7) (7p22.2)
ND
GWASdb2
1   publication(s)
See rs on genome
13 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.3070425C>T
GRCh37.p13 chr 7NC_000007.13:g.3110059C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.004T=0.996
1000GenomesAmericanSub694C=0.090T=0.910
1000GenomesEast AsianSub1008C=0.002T=0.998
1000GenomesEuropeSub1006C=0.176T=0.824
1000GenomesGlobalStudy-wide5008C=0.053T=0.947
1000GenomesSouth AsianSub978C=0.020T=0.980
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.158T=0.842
The Genome Aggregation DatabaseAfricanSub8728C=0.028T=0.972
The Genome Aggregation DatabaseAmericanSub838C=0.090T=0.910
The Genome Aggregation DatabaseEast AsianSub1618C=0.000T=1.000
The Genome Aggregation DatabaseEuropeSub18478C=0.172T=0.828
The Genome Aggregation DatabaseGlobalStudy-wide29964C=0.117T=0.882
The Genome Aggregation DatabaseOtherSub302C=0.110T=0.890
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.095T=0.904
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.162T=0.838
PMID Title Author Journal
19268276Genome-wide association study of smoking initiation and current smoking.Vink JMAm J Hum Genet

P-Value

SNP ID p-value Traits Study
rs78052475.68E-05nicotine smoking19268276

eQTL of rs7805247 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 rs7805247 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 )
chr730676533068113E070-41946
chr730682373068513E070-41546
chr730781153078261E070-31798
chr730783213078439E070-31620
chr730785143078598E070-31461
chr730666633066946E081-43113
chr730670093067401E081-42658
chr730682373068513E081-41546
chr730686123068761E081-41298
chr730689423069047E081-41012
chr730935313093598E081-16461
chr731230463123217E08112987
chr731237463123816E08113687