rs6972429

Homo sapiens
C>T
LOC107986788 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0298 (8941/29954,GnomAD)
C==0277 (8086/29118,TOPMED)
C==0349 (1750/5008,1000G)
C==0348 (1341/3854,ALSPAC)
C==0343 (1272/3708,TWINSUK)
chr7:41855244 (GRCh38.p7) (7p14.1)
ND
GWASdb2
1   publication(s)
See rs on genome
5 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.41855244C>T
GRCh37.p13 chr 7NC_000007.13:g.41894842C>T

Gene: LOC107986788, uncharacterized LOC107986788(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC107986788 transcript variant X1XR_001745185.1:n.N/AIntron Variant
LOC107986788 transcript variant X2XR_001745186.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.132T=0.868
1000GenomesAmericanSub694C=0.470T=0.530
1000GenomesEast AsianSub1008C=0.602T=0.398
1000GenomesEuropeSub1006C=0.344T=0.656
1000GenomesGlobalStudy-wide5008C=0.349T=0.651
1000GenomesSouth AsianSub978C=0.300T=0.700
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.348T=0.652
The Genome Aggregation DatabaseAfricanSub8724C=0.177T=0.823
The Genome Aggregation DatabaseAmericanSub838C=0.430T=0.570
The Genome Aggregation DatabaseEast AsianSub1610C=0.630T=0.370
The Genome Aggregation DatabaseEuropeSub18480C=0.319T=0.680
The Genome Aggregation DatabaseGlobalStudy-wide29954C=0.298T=0.701
The Genome Aggregation DatabaseOtherSub302C=0.380T=0.620
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.277T=0.722
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.343T=0.657
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
rs69724298.32E-05nicotine smoking19268276

eQTL of rs6972429 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 rs6972429 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 )
chr74191838641918559E07023544
chr74191867541918889E07023833
chr74191895741919020E07024115
chr74191643341916504E08121591
chr74191663941916931E08121797