rs111825958

Organism: Homo sapiens

Alleles: C>A

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0034 (1024/29906,GnomAD)
A=0052 (1519/29118,TOPMED)
A=0034 (171/5008,1000G)
A=0000 (1/3854,ALSPAC)
A=0000 (0/3708,TWINSUK)

Position: chr19:40825304 (GRCh38.p7) (19q13.2)

Phenotype: ND

Dataset:

GWASCatalog

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 192 Enhancers around

Promoter: 42 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 19	NC_000019.10:g.40825304C>A
GRCh37.p13 chr 19	NC_000019.9:g.41331209C>A
CYP2F2P pseudogene	NG_029339.2:g.1570G>T

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	C=0.873	A=0.127
1000Genomes	American	Sub	694	C=1.000	A=0.000
1000Genomes	East Asian	Sub	1008	C=1.000	A=0.000
1000Genomes	Europe	Sub	1006	C=1.000	A=0.000
1000Genomes	Global	Study-wide	5008	C=0.966	A=0.034
1000Genomes	South Asian	Sub	978	C=1.000	A=0.000
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=1.000	A=0.000
The Genome Aggregation Database	African	Sub	8698	C=0.883	A=0.117
The Genome Aggregation Database	American	Sub	838	C=1.000	A=0.000
The Genome Aggregation Database	East Asian	Sub	1616	C=1.000	A=0.000
The Genome Aggregation Database	Europe	Sub	18452	C=0.999	A=0.000
The Genome Aggregation Database	Global	Study-wide	29906	C=0.965	A=0.034
The Genome Aggregation Database	Other	Sub	302	C=1.000	A=0.000
Trans-Omics for Precision Medicine	Global	Study-wide	29118	C=0.947	A=0.052
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=1.000	A=0.000

PMID	Title	Author	Journal
28921760	Genome-wide association study of a nicotine metabolism biomarker in African American smokers: impact of chromosome 19 genetic influences.	Chenoweth MJ	Addiction

P-Value

SNP ID	p-value	Traits	Study
rs111825958	6E-26	nicotine metabolite ratio in current smokers	28921760

eQTL of rs111825958 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 rs111825958 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	41309197	41310378	E067	-20831
chr19	41310386	41310560	E067	-20649
chr19	41310588	41311205	E067	-20004
chr19	41311222	41311679	E067	-19530
chr19	41311756	41311846	E067	-19363
chr19	41311901	41311984	E067	-19225
chr19	41314057	41314164	E067	-17045
chr19	41314165	41314366	E067	-16843
chr19	41314383	41314438	E067	-16771
chr19	41314543	41314844	E067	-16365
chr19	41318614	41318775	E067	-12434
chr19	41318893	41318990	E067	-12219
chr19	41319058	41319424	E067	-11785
chr19	41319757	41319828	E067	-11381
chr19	41324139	41324179	E067	-7030
chr19	41324351	41324854	E067	-6355
chr19	41324907	41325135	E067	-6074
chr19	41325420	41326011	E067	-5198
chr19	41328596	41329263	E067	-1946
chr19	41333021	41333471	E067	1812
chr19	41297251	41297337	E068	-33872
chr19	41297391	41298299	E068	-32910
chr19	41298323	41298444	E068	-32765
chr19	41298474	41298695	E068	-32514
chr19	41310386	41310560	E068	-20649
chr19	41310588	41311205	E068	-20004
chr19	41311222	41311679	E068	-19530
chr19	41311756	41311846	E068	-19363
chr19	41311901	41311984	E068	-19225
chr19	41313359	41314035	E068	-17174
chr19	41315417	41315497	E068	-15712
chr19	41315541	41315630	E068	-15579
chr19	41315675	41315793	E068	-15416
chr19	41318461	41318553	E068	-12656
chr19	41318614	41318775	E068	-12434
chr19	41318893	41318990	E068	-12219
chr19	41324907	41325135	E068	-6074
chr19	41325420	41326011	E068	-5198
chr19	41328596	41329263	E068	-1946
chr19	41333021	41333471	E068	1812
chr19	41307265	41307523	E069	-23686
chr19	41310588	41311205	E069	-20004
chr19	41311222	41311679	E069	-19530
chr19	41311756	41311846	E069	-19363
chr19	41311901	41311984	E069	-19225
chr19	41313359	41314035	E069	-17174
chr19	41315171	41315349	E069	-15860
chr19	41315417	41315497	E069	-15712
chr19	41315541	41315630	E069	-15579
chr19	41315675	41315793	E069	-15416
chr19	41319058	41319424	E069	-11785
chr19	41319502	41319594	E069	-11615
chr19	41319632	41319711	E069	-11498
chr19	41323661	41323817	E069	-7392
chr19	41323901	41323956	E069	-7253
chr19	41324139	41324179	E069	-7030
chr19	41324351	41324854	E069	-6355
chr19	41324907	41325135	E069	-6074
chr19	41325420	41326011	E069	-5198
chr19	41328368	41328433	E069	-2776
chr19	41328596	41329263	E069	-1946
chr19	41311222	41311679	E070	-19530
chr19	41311756	41311846	E070	-19363
chr19	41311901	41311984	E070	-19225
chr19	41313359	41314035	E070	-17174
chr19	41314057	41314164	E070	-17045
chr19	41339246	41339303	E070	8037
chr19	41309197	41310378	E071	-20831
chr19	41310386	41310560	E071	-20649
chr19	41310588	41311205	E071	-20004
chr19	41311222	41311679	E071	-19530
chr19	41311756	41311846	E071	-19363
chr19	41311901	41311984	E071	-19225
chr19	41313359	41314035	E071	-17174
chr19	41314057	41314164	E071	-17045
chr19	41314165	41314366	E071	-16843
chr19	41314383	41314438	E071	-16771
chr19	41314543	41314844	E071	-16365
chr19	41314849	41314965	E071	-16244
chr19	41315171	41315349	E071	-15860
chr19	41315417	41315497	E071	-15712
chr19	41315541	41315630	E071	-15579
chr19	41315675	41315793	E071	-15416
chr19	41318461	41318553	E071	-12656
chr19	41318614	41318775	E071	-12434
chr19	41318893	41318990	E071	-12219
chr19	41319058	41319424	E071	-11785
chr19	41319502	41319594	E071	-11615
chr19	41319632	41319711	E071	-11498
chr19	41319757	41319828	E071	-11381
chr19	41319892	41320080	E071	-11129
chr19	41324139	41324179	E071	-7030
chr19	41324351	41324854	E071	-6355
chr19	41324907	41325135	E071	-6074
chr19	41325420	41326011	E071	-5198
chr19	41328368	41328433	E071	-2776
chr19	41328596	41329263	E071	-1946
chr19	41329354	41329411	E071	-1798
chr19	41285641	41285695	E072	-45514
chr19	41285796	41285841	E072	-45368
chr19	41285887	41286023	E072	-45186
chr19	41286106	41286207	E072	-45002
chr19	41297251	41297337	E072	-33872
chr19	41309197	41310378	E072	-20831
chr19	41310386	41310560	E072	-20649
chr19	41310588	41311205	E072	-20004
chr19	41311222	41311679	E072	-19530
chr19	41311756	41311846	E072	-19363
chr19	41311901	41311984	E072	-19225
chr19	41313359	41314035	E072	-17174
chr19	41314057	41314164	E072	-17045
chr19	41314165	41314366	E072	-16843
chr19	41314383	41314438	E072	-16771
chr19	41314543	41314844	E072	-16365
chr19	41315541	41315630	E072	-15579
chr19	41315675	41315793	E072	-15416
chr19	41318461	41318553	E072	-12656
chr19	41324139	41324179	E072	-7030
chr19	41324907	41325135	E072	-6074
chr19	41328596	41329263	E072	-1946
chr19	41333021	41333471	E072	1812
chr19	41339828	41339912	E072	8619
chr19	41297391	41298299	E073	-32910
chr19	41298323	41298444	E073	-32765
chr19	41310588	41311205	E073	-20004
chr19	41311222	41311679	E073	-19530
chr19	41311756	41311846	E073	-19363
chr19	41311901	41311984	E073	-19225
chr19	41313359	41314035	E073	-17174
chr19	41318461	41318553	E073	-12656
chr19	41318614	41318775	E073	-12434
chr19	41318893	41318990	E073	-12219
chr19	41319058	41319424	E073	-11785
chr19	41324351	41324854	E073	-6355
chr19	41324907	41325135	E073	-6074
chr19	41328009	41328074	E073	-3135
chr19	41328217	41328302	E073	-2907
chr19	41328368	41328433	E073	-2776
chr19	41328596	41329263	E073	-1946
chr19	41333021	41333471	E073	1812
chr19	41309197	41310378	E074	-20831
chr19	41310386	41310560	E074	-20649
chr19	41310588	41311205	E074	-20004
chr19	41311222	41311679	E074	-19530
chr19	41311756	41311846	E074	-19363
chr19	41311901	41311984	E074	-19225
chr19	41313359	41314035	E074	-17174
chr19	41314057	41314164	E074	-17045
chr19	41314165	41314366	E074	-16843
chr19	41314383	41314438	E074	-16771
chr19	41315541	41315630	E074	-15579
chr19	41315675	41315793	E074	-15416
chr19	41318461	41318553	E074	-12656
chr19	41318614	41318775	E074	-12434
chr19	41318893	41318990	E074	-12219
chr19	41319058	41319424	E074	-11785
chr19	41319502	41319594	E074	-11615
chr19	41319632	41319711	E074	-11498
chr19	41319757	41319828	E074	-11381
chr19	41319892	41320080	E074	-11129
chr19	41324139	41324179	E074	-7030
chr19	41324351	41324854	E074	-6355
chr19	41325420	41326011	E074	-5198
chr19	41328217	41328302	E074	-2907
chr19	41328368	41328433	E074	-2776
chr19	41328596	41329263	E074	-1946
chr19	41329354	41329411	E074	-1798
chr19	41333021	41333471	E074	1812
chr19	41339246	41339303	E074	8037
chr19	41339346	41339498	E074	8137
chr19	41339828	41339912	E074	8619
chr19	41354980	41355083	E074	23771
chr19	41306816	41307243	E081	-23966
chr19	41307265	41307523	E081	-23686
chr19	41309197	41310378	E081	-20831
chr19	41310386	41310560	E081	-20649
chr19	41310588	41311205	E081	-20004
chr19	41311222	41311679	E081	-19530
chr19	41311756	41311846	E081	-19363
chr19	41311901	41311984	E081	-19225
chr19	41312044	41313329	E081	-17880
chr19	41324351	41324854	E081	-6355
chr19	41311222	41311679	E082	-19530
chr19	41311756	41311846	E082	-19363
chr19	41311901	41311984	E082	-19225
chr19	41318461	41318553	E082	-12656
chr19	41318614	41318775	E082	-12434
chr19	41318893	41318990	E082	-12219
chr19	41323661	41323817	E082	-7392
chr19	41323901	41323956	E082	-7253
chr19	41324139	41324179	E082	-7030
chr19	41324351	41324854	E082	-6355

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr19	41282597	41285339	E067	-45870
chr19	41303789	41306736	E067	-24473
chr19	41316570	41316987	E067	-14222
chr19	41317036	41317275	E067	-13934
chr19	41354337	41354458	E067	23128
chr19	41354484	41354854	E067	23275
chr19	41282597	41285339	E068	-45870
chr19	41303789	41306736	E068	-24473
chr19	41316570	41316987	E068	-14222
chr19	41317036	41317275	E068	-13934
chr19	41282597	41285339	E069	-45870
chr19	41303789	41306736	E069	-24473
chr19	41316570	41316987	E069	-14222
chr19	41317036	41317275	E069	-13934
chr19	41282597	41285339	E070	-45870
chr19	41303789	41306736	E070	-24473
chr19	41316570	41316987	E070	-14222
chr19	41317036	41317275	E070	-13934
chr19	41354484	41354854	E070	23275
chr19	41282597	41285339	E071	-45870
chr19	41303789	41306736	E071	-24473
chr19	41316570	41316987	E071	-14222
chr19	41317036	41317275	E071	-13934
chr19	41282597	41285339	E072	-45870
chr19	41303789	41306736	E072	-24473
chr19	41316570	41316987	E072	-14222
chr19	41317036	41317275	E072	-13934
chr19	41354337	41354458	E072	23128
chr19	41354484	41354854	E072	23275
chr19	41282597	41285339	E073	-45870
chr19	41303789	41306736	E073	-24473
chr19	41316570	41316987	E073	-14222
chr19	41317036	41317275	E073	-13934
chr19	41282597	41285339	E074	-45870
chr19	41303789	41306736	E074	-24473
chr19	41316570	41316987	E074	-14222
chr19	41317036	41317275	E074	-13934
chr19	41282597	41285339	E081	-45870
chr19	41282597	41285339	E082	-45870
chr19	41303789	41306736	E082	-24473
chr19	41316570	41316987	E082	-14222
chr19	41317036	41317275	E082	-13934