rs1113371

Organism: Homo sapiens

Alleles: A>C

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A==0492 (14684/29848,GnomAD)
A==0467 (13600/29118,TOPMED)
A==0488 (2443/5008,1000G)
C=0490 (1887/3854,ALSPAC)
A==0500 (1854/3708,TWINSUK)
C=0500 (1854/3708,TWINSUK)

Position: chr4:35460417 (GRCh38.p7) (4p15.1)

Phenotype: ND

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 3 Enhancers around

Promoter: 4 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 4	NC_000004.12:g.35460417A>C
GRCh37.p13 chr 4	NC_000004.11:g.35462039A>C

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.401	C=0.599
1000Genomes	American	Sub	694	A=0.450	C=0.550
1000Genomes	East Asian	Sub	1008	A=0.643	C=0.357
1000Genomes	Europe	Sub	1006	A=0.538	C=0.462
1000Genomes	Global	Study-wide	5008	A=0.488	C=0.512
1000Genomes	South Asian	Sub	978	A=0.420	C=0.580
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.510	C=0.490
The Genome Aggregation Database	African	Sub	8700	A=0.429	C=0.571
The Genome Aggregation Database	American	Sub	836	A=0.420	C=0.580
The Genome Aggregation Database	East Asian	Sub	1610	A=0.676	C=0.324
The Genome Aggregation Database	Europe	Sub	18402	A=0.507	C=0.492
The Genome Aggregation Database	Global	Study-wide	29848	A=0.492	C=0.508
The Genome Aggregation Database	Other	Sub	300	A=0.580	C=0.420
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.467	C=0.532
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.500	C=0.500

PMID	Title	Author	Journal
17158188	Novel genes identified in a high-density genome wide association study for nicotine dependence.	Bierut LJ	Hum Mol Genet

SNP ID	p-value	Traits	Study
rs1113371	0.000451	nicotine dependence	17158188

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
There is no eQTL annotation for this SNP

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 )
chr4	35465298	35465454	E069	3259
chr4	35465298	35465454	E071	3259
chr4	35465298	35465454	E074	3259

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr4	35466830	35466880	E067	4791
chr4	35466830	35466880	E069	4791
chr4	35466830	35466880	E071	4791
chr4	35466830	35466880	E072	4791

rs1113371

Genomic Coordinates

Population Frequency

P-Value

eQTL of rs1113371 in Brain tissues (GTEx Analysis Release V7)

meQTL of rs1113371 in Fetal Brain

Genomic View

Chromatin Interaction

Enhancer Annotation (GRCh37.p13)

Promoter Annotation (GRCh37.p13)