rs117253780

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0010 (325/29982,GnomAD)
T=0011 (346/29118,TOPMED)
T=0005 (26/5008,1000G)
T=0016 (63/3854,ALSPAC)
T=0018 (67/3708,TWINSUK)
chr20:7822573 (GRCh38.p7) (20p12.3)
ND
GWASCatalog
1   publication(s)
See rs on genome
13 Enhancers around
5 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 20NC_000020.11:g.7822573C>T
GRCh37.p13 chr 20NC_000020.10:g.7803220C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=1.000T=0.000
1000GenomesAmericanSub694C=0.990T=0.010
1000GenomesEast AsianSub1008C=1.000T=0.000
1000GenomesEuropeSub1006C=0.984T=0.016
1000GenomesGlobalStudy-wide5008C=0.995T=0.005
1000GenomesSouth AsianSub978C=1.000T=0.000
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.984T=0.016
The Genome Aggregation DatabaseAfricanSub8734C=0.997T=0.003
The Genome Aggregation DatabaseAmericanSub838C=0.990T=0.010
The Genome Aggregation DatabaseEast AsianSub1616C=1.000T=0.000
The Genome Aggregation DatabaseEuropeSub18492C=0.984T=0.015
The Genome Aggregation DatabaseGlobalStudy-wide29982C=0.989T=0.010
The Genome Aggregation DatabaseOtherSub302C=1.000T=0.000
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.988T=0.011
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.982T=0.018
PMID Title Author Journal
28520984Genome-Wide Association Study of Heavy Smoking and Daily/Nondaily Smoking in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL).Saccone NLNicotine Tob Res

P-Value

SNP ID p-value Traits Study
rs1172537803E-08Smoking status (heavy vs light)28520984

eQTL of rs117253780 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 rs117253780 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 )
chr2078241927824594E06720972
chr2078241927824594E06820972
chr2078241927824594E06920972
chr2078241927824594E07120972
chr2078248327825098E07121612
chr2078251357825185E07121915
chr2078394677839535E07136247
chr2078396147840263E07136394
chr2078241927824594E07220972
chr2078248327825098E07221612
chr2078251357825185E07221915
chr2078396147840263E07236394
chr2078241927824594E07420972






Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr2078469237847362E06843703
chr2078469237847362E06943703
chr2077844687784518E070-18702
chr2078469237847362E07243703
chr2077844687784518E082-18702