rs7247903

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0125 (3727/29744,GnomAD)
G=0151 (754/5008,1000G)
G=0057 (219/3854,ALSPAC)
G=0066 (246/3708,TWINSUK)

Position: chr19:40866570 (GRCh38.p7) (19q13.2)

Phenotype: ND

Dataset:

GWASCatalog

Publications: 2 publication(s)

Genomic View: See rs on genome

Enhancer: 56 Enhancers around

Promoter: 5 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 19	NC_000019.10:g.40866570A>G
GRCh37.p13 chr 19	NC_000019.9:g.41372475A>G

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.771	G=0.229
1000Genomes	American	Sub	694	A=0.930	G=0.070
1000Genomes	East Asian	Sub	1008	A=0.791	G=0.209
1000Genomes	Europe	Sub	1006	A=0.930	G=0.070
1000Genomes	Global	Study-wide	5008	A=0.849	G=0.151
1000Genomes	South Asian	Sub	978	A=0.870	G=0.130
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.943	G=0.057
The Genome Aggregation Database	African	Sub	8666	A=0.786	G=0.214
The Genome Aggregation Database	American	Sub	836	A=0.940	G=0.060
The Genome Aggregation Database	East Asian	Sub	1586	A=0.796	G=0.204
The Genome Aggregation Database	Europe	Sub	18356	A=0.918	G=0.081
The Genome Aggregation Database	Global	Study-wide	29744	A=0.874	G=0.125
The Genome Aggregation Database	Other	Sub	300	A=0.950	G=0.050
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.934	G=0.066

PMID	Title	Author	Journal
27113016	Genome-Wide Association of the Laboratory-Based Nicotine Metabolite Ratio in Three Ancestries.	Baurley JW	Nicotine Tob Res
27488534	Novel Association of Genetic Markers Affecting CYP2A6 Activity and Lung Cancer Risk.	Patel YM	Cancer Res

P-Value

SNP ID	p-value	Traits	Study
rs7247903	1E-21	nicotine metabolite ratio in current smokers	27488534

eQTL of rs7247903 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 rs7247903 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 )
chr19	41324139	41324179	E067	-48296
chr19	41324351	41324854	E067	-47621
chr19	41324907	41325135	E067	-47340
chr19	41325420	41326011	E067	-46464
chr19	41328596	41329263	E067	-43212
chr19	41333021	41333471	E067	-39004
chr19	41324907	41325135	E068	-47340
chr19	41325420	41326011	E068	-46464
chr19	41328596	41329263	E068	-43212
chr19	41333021	41333471	E068	-39004
chr19	41323661	41323817	E069	-48658
chr19	41323901	41323956	E069	-48519
chr19	41324139	41324179	E069	-48296
chr19	41324351	41324854	E069	-47621
chr19	41324907	41325135	E069	-47340
chr19	41325420	41326011	E069	-46464
chr19	41328368	41328433	E069	-44042
chr19	41328596	41329263	E069	-43212
chr19	41339246	41339303	E070	-33172
chr19	41324139	41324179	E071	-48296
chr19	41324351	41324854	E071	-47621
chr19	41324907	41325135	E071	-47340
chr19	41325420	41326011	E071	-46464
chr19	41328368	41328433	E071	-44042
chr19	41328596	41329263	E071	-43212
chr19	41329354	41329411	E071	-43064
chr19	41324139	41324179	E072	-48296
chr19	41324907	41325135	E072	-47340
chr19	41328596	41329263	E072	-43212
chr19	41333021	41333471	E072	-39004
chr19	41339828	41339912	E072	-32563
chr19	41404498	41404675	E072	32023
chr19	41324351	41324854	E073	-47621
chr19	41324907	41325135	E073	-47340
chr19	41328009	41328074	E073	-44401
chr19	41328217	41328302	E073	-44173
chr19	41328368	41328433	E073	-44042
chr19	41328596	41329263	E073	-43212
chr19	41333021	41333471	E073	-39004
chr19	41324139	41324179	E074	-48296
chr19	41324351	41324854	E074	-47621
chr19	41325420	41326011	E074	-46464
chr19	41328217	41328302	E074	-44173
chr19	41328368	41328433	E074	-44042
chr19	41328596	41329263	E074	-43212
chr19	41329354	41329411	E074	-43064
chr19	41333021	41333471	E074	-39004
chr19	41339246	41339303	E074	-33172
chr19	41339346	41339498	E074	-32977
chr19	41339828	41339912	E074	-32563
chr19	41354980	41355083	E074	-17392
chr19	41324351	41324854	E081	-47621
chr19	41323661	41323817	E082	-48658
chr19	41323901	41323956	E082	-48519
chr19	41324139	41324179	E082	-48296
chr19	41324351	41324854	E082	-47621

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr19	41354337	41354458	E067	-18017
chr19	41354484	41354854	E067	-17621
chr19	41354484	41354854	E070	-17621
chr19	41354337	41354458	E072	-18017
chr19	41354484	41354854	E072	-17621