SNP Detail Info-rs2964911

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

LOC105377703 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0210 (6292/29834,GnomAD)
G=0205 (5985/29118,TOPMED)
G=0207 (1038/5008,1000G)
G=0176 (680/3854,ALSPAC)
G=0186 (689/3708,TWINSUK)

Position: chr5:164297275 (GRCh38.p7) (5q34)

Phenotype: ND

Dataset:

GWASdb2

Publications: 2 publication(s)

Genomic View: See rs on genome

Enhancer: 4 Enhancers around

Promoter: 15 Promoters around

Sequence Name	Change(s)
GRCh38.p7 chr 5	NC_000005.10:g.164297275A>G
GRCh37.p13 chr 5	NC_000005.9:g.163724281A>G

Molecule type	Change	Amino acid[Codon]	SO Term
LOC105377703 transcript	XR_001742489.1:n.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.714	G=0.286
1000Genomes	American	Sub	694	A=0.830	G=0.170
1000Genomes	East Asian	Sub	1008	A=0.714	G=0.286
1000Genomes	Europe	Sub	1006	A=0.849	G=0.151
1000Genomes	Global	Study-wide	5008	A=0.793	G=0.207
1000Genomes	South Asian	Sub	978	A=0.890	G=0.110
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.824	G=0.176
The Genome Aggregation Database	African	Sub	8706	A=0.730	G=0.270
The Genome Aggregation Database	American	Sub	828	A=0.770	G=0.230
The Genome Aggregation Database	East Asian	Sub	1594	A=0.695	G=0.305
The Genome Aggregation Database	Europe	Sub	18404	A=0.825	G=0.174
The Genome Aggregation Database	Global	Study-wide	29834	A=0.789	G=0.210
The Genome Aggregation Database	Other	Sub	302	A=0.820	G=0.180
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.794	G=0.205
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.814	G=0.186

PMID	Title	Author	Journal
19268276	Genome-wide association study of smoking initiation and current smoking.	Vink JM	Am J Hum Genet
23334941	A bivariate mann-whitney approach for unraveling genetic variants and interactions contributing to comorbidity.	Wen Y	Genet Epidemiol

SNP ID	p-value	Traits	Study
rs2964911	6.57E-05	nicotine smoking	19268276

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

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr5	163772295	163772463	E070	48014
chr5	163772636	163772800	E070	48355
chr5	163723185	163723266	E082	-1015
chr5	163723312	163723473	E082	-808

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr5	163723538	163724174	E067	-107
chr5	163724182	163724335	E067	0
chr5	163723538	163724174	E068	-107
chr5	163724182	163724335	E068	0
chr5	163723538	163724174	E069	-107
chr5	163723538	163724174	E070	-107
chr5	163724182	163724335	E070	0
chr5	163723538	163724174	E071	-107
chr5	163723538	163724174	E073	-107
chr5	163724182	163724335	E073	0
chr5	163723538	163724174	E074	-107
chr5	163723538	163724174	E081	-107
chr5	163724182	163724335	E081	0
chr5	163723538	163724174	E082	-107
chr5	163724182	163724335	E082	0

rs2964911