rs2791480

Homo sapiens
C>G
LOC105378827 : Non Coding Transcript Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0282 (8458/29908,GnomAD)
C==0276 (8059/29118,TOPMED)
C==0290 (1454/5008,1000G)
C==0230 (887/3854,ALSPAC)
C==0239 (887/3708,TWINSUK)
chr1:86502901 (GRCh38.p7) (1p22.3)
ND
GWASdb2
2   publication(s)
See rs on genome
2 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.86502901C>G
GRCh37.p13 chr 1NC_000001.10:g.86968584C>G

Gene: LOC105378827, uncharacterized LOC105378827(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105378827 transcript variant X1XR_947557.2:n.404G>CG>CNon Coding Transcript Variant
LOC105378827 transcript variant X2XR_001738132.1:n....XR_001738132.1:n.147G>CG>CNon Coding Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.341G=0.659
1000GenomesAmericanSub694C=0.350G=0.650
1000GenomesEast AsianSub1008C=0.299G=0.701
1000GenomesEuropeSub1006C=0.248G=0.752
1000GenomesGlobalStudy-wide5008C=0.290G=0.710
1000GenomesSouth AsianSub978C=0.210G=0.790
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.230G=0.770
The Genome Aggregation DatabaseAfricanSub8706C=0.331G=0.669
The Genome Aggregation DatabaseAmericanSub836C=0.270G=0.730
The Genome Aggregation DatabaseEast AsianSub1614C=0.292G=0.708
The Genome Aggregation DatabaseEuropeSub18450C=0.259G=0.740
The Genome Aggregation DatabaseGlobalStudy-wide29908C=0.282G=0.717
The Genome Aggregation DatabaseOtherSub302C=0.290G=0.710
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.276G=0.723
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.239G=0.761
PMID Title Author Journal
19184766A testable prognostic model of nicotine dependence.Ramoni RBJ Neurogenet
17158188Novel genes identified in a high-density genome wide association study for nicotine dependence.Bierut LJHum Mol Genet

P-Value

SNP ID p-value Traits Study
rs27914804.38E-05nicotine dependence17158188

eQTL of rs2791480 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 rs2791480 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 )
chr18695235786953713E067-14871
chr18696679286966896E067-1688
chr18697042386970632E0671839
chr18697068386971396E0672099
chr18695235786953713E068-14871
chr18697042386970632E0681839
chr18697068386971396E0682099
chr18701448087015091E06845896
chr18694109086941147E069-27437
chr18697042386970632E0691839
chr18697068386971396E0692099
chr18701448087015091E06945896
chr18697068386971396E0702099
chr18695235786953713E071-14871
chr18697005586970139E0711471
chr18697042386970632E0711839
chr18697068386971396E0712099
chr18697068386971396E0722099
chr18701448087015091E07245896
chr18694109086941147E074-27437
chr18697005586970139E0741471
chr18697042386970632E0741839
chr18697068386971396E0742099
chr18701448087015091E07445896
chr18697042386970632E0821839
chr18697068386971396E0822099








Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr18696786986968323E068-261
chr18696786986968323E072-261