rs185308415

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0024 (637/26596,GnomAD)
G=0040 (200/5008,1000G)

Position: chr19:40811274 (GRCh38.p7) (19q13.2)

Phenotype: ND

Dataset:

GWASCatalog

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 195 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.40811274A>G
GRCh37.p13 chr 19	NC_000019.9:g.41317179A>G
CYP2T1P pseudogene	NG_029340.1:g.219T>C

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.994	G=0.006
1000Genomes	American	Sub	694	A=0.910	G=0.090
1000Genomes	East Asian	Sub	1008	A=0.898	G=0.102
1000Genomes	Europe	Sub	1006	A=0.996	G=0.004
1000Genomes	Global	Study-wide	5008	A=0.960	G=0.040
1000Genomes	South Asian	Sub	978	A=0.980	G=0.020
The Genome Aggregation Database	African	Sub	7740	A=0.989	G=0.011
The Genome Aggregation Database	American	Sub	792	A=0.890	G=0.110
The Genome Aggregation Database	East Asian	Sub	1608	A=0.893	G=0.107
The Genome Aggregation Database	Europe	Sub	16182	A=0.982	G=0.017
The Genome Aggregation Database	Global	Study-wide	26596	A=0.976	G=0.024
The Genome Aggregation Database	Other	Sub	274	A=0.990	G=0.010

PMID	Title	Author	Journal
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
rs185308415	3E-09	nicotine metabolite ratio in current smokers	27488534

eQTL of rs185308415 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 rs185308415 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	-6801
chr19	41310386	41310560	E067	-6619
chr19	41310588	41311205	E067	-5974
chr19	41311222	41311679	E067	-5500
chr19	41311756	41311846	E067	-5333
chr19	41311901	41311984	E067	-5195
chr19	41314057	41314164	E067	-3015
chr19	41314165	41314366	E067	-2813
chr19	41314383	41314438	E067	-2741
chr19	41314543	41314844	E067	-2335
chr19	41318614	41318775	E067	1435
chr19	41318893	41318990	E067	1714
chr19	41319058	41319424	E067	1879
chr19	41319757	41319828	E067	2578
chr19	41324139	41324179	E067	6960
chr19	41324351	41324854	E067	7172
chr19	41324907	41325135	E067	7728
chr19	41325420	41326011	E067	8241
chr19	41328596	41329263	E067	11417
chr19	41333021	41333471	E067	15842
chr19	41297251	41297337	E068	-19842
chr19	41297391	41298299	E068	-18880
chr19	41298323	41298444	E068	-18735
chr19	41298474	41298695	E068	-18484
chr19	41310386	41310560	E068	-6619
chr19	41310588	41311205	E068	-5974
chr19	41311222	41311679	E068	-5500
chr19	41311756	41311846	E068	-5333
chr19	41311901	41311984	E068	-5195
chr19	41313359	41314035	E068	-3144
chr19	41315417	41315497	E068	-1682
chr19	41315541	41315630	E068	-1549
chr19	41315675	41315793	E068	-1386
chr19	41318461	41318553	E068	1282
chr19	41318614	41318775	E068	1435
chr19	41318893	41318990	E068	1714
chr19	41324907	41325135	E068	7728
chr19	41325420	41326011	E068	8241
chr19	41328596	41329263	E068	11417
chr19	41333021	41333471	E068	15842
chr19	41269433	41269558	E069	-47621
chr19	41269593	41269869	E069	-47310
chr19	41307265	41307523	E069	-9656
chr19	41310588	41311205	E069	-5974
chr19	41311222	41311679	E069	-5500
chr19	41311756	41311846	E069	-5333
chr19	41311901	41311984	E069	-5195
chr19	41313359	41314035	E069	-3144
chr19	41315171	41315349	E069	-1830
chr19	41315417	41315497	E069	-1682
chr19	41315541	41315630	E069	-1549
chr19	41315675	41315793	E069	-1386
chr19	41319058	41319424	E069	1879
chr19	41319502	41319594	E069	2323
chr19	41319632	41319711	E069	2453
chr19	41323661	41323817	E069	6482
chr19	41323901	41323956	E069	6722
chr19	41324139	41324179	E069	6960
chr19	41324351	41324854	E069	7172
chr19	41324907	41325135	E069	7728
chr19	41325420	41326011	E069	8241
chr19	41328368	41328433	E069	11189
chr19	41328596	41329263	E069	11417
chr19	41311222	41311679	E070	-5500
chr19	41311756	41311846	E070	-5333
chr19	41311901	41311984	E070	-5195
chr19	41313359	41314035	E070	-3144
chr19	41314057	41314164	E070	-3015
chr19	41339246	41339303	E070	22067
chr19	41269088	41269158	E071	-48021
chr19	41309197	41310378	E071	-6801
chr19	41310386	41310560	E071	-6619
chr19	41310588	41311205	E071	-5974
chr19	41311222	41311679	E071	-5500
chr19	41311756	41311846	E071	-5333
chr19	41311901	41311984	E071	-5195
chr19	41313359	41314035	E071	-3144
chr19	41314057	41314164	E071	-3015
chr19	41314165	41314366	E071	-2813
chr19	41314383	41314438	E071	-2741
chr19	41314543	41314844	E071	-2335
chr19	41314849	41314965	E071	-2214
chr19	41315171	41315349	E071	-1830
chr19	41315417	41315497	E071	-1682
chr19	41315541	41315630	E071	-1549
chr19	41315675	41315793	E071	-1386
chr19	41318461	41318553	E071	1282
chr19	41318614	41318775	E071	1435
chr19	41318893	41318990	E071	1714
chr19	41319058	41319424	E071	1879
chr19	41319502	41319594	E071	2323
chr19	41319632	41319711	E071	2453
chr19	41319757	41319828	E071	2578
chr19	41319892	41320080	E071	2713
chr19	41324139	41324179	E071	6960
chr19	41324351	41324854	E071	7172
chr19	41324907	41325135	E071	7728
chr19	41325420	41326011	E071	8241
chr19	41328368	41328433	E071	11189
chr19	41328596	41329263	E071	11417
chr19	41329354	41329411	E071	12175
chr19	41285641	41285695	E072	-31484
chr19	41285796	41285841	E072	-31338
chr19	41285887	41286023	E072	-31156
chr19	41286106	41286207	E072	-30972
chr19	41297251	41297337	E072	-19842
chr19	41309197	41310378	E072	-6801
chr19	41310386	41310560	E072	-6619
chr19	41310588	41311205	E072	-5974
chr19	41311222	41311679	E072	-5500
chr19	41311756	41311846	E072	-5333
chr19	41311901	41311984	E072	-5195
chr19	41313359	41314035	E072	-3144
chr19	41314057	41314164	E072	-3015
chr19	41314165	41314366	E072	-2813
chr19	41314383	41314438	E072	-2741
chr19	41314543	41314844	E072	-2335
chr19	41315541	41315630	E072	-1549
chr19	41315675	41315793	E072	-1386
chr19	41318461	41318553	E072	1282
chr19	41324139	41324179	E072	6960
chr19	41324907	41325135	E072	7728
chr19	41328596	41329263	E072	11417
chr19	41333021	41333471	E072	15842
chr19	41339828	41339912	E072	22649
chr19	41297391	41298299	E073	-18880
chr19	41298323	41298444	E073	-18735
chr19	41310588	41311205	E073	-5974
chr19	41311222	41311679	E073	-5500
chr19	41311756	41311846	E073	-5333
chr19	41311901	41311984	E073	-5195
chr19	41313359	41314035	E073	-3144
chr19	41318461	41318553	E073	1282
chr19	41318614	41318775	E073	1435
chr19	41318893	41318990	E073	1714
chr19	41319058	41319424	E073	1879
chr19	41324351	41324854	E073	7172
chr19	41324907	41325135	E073	7728
chr19	41328009	41328074	E073	10830
chr19	41328217	41328302	E073	11038
chr19	41328368	41328433	E073	11189
chr19	41328596	41329263	E073	11417
chr19	41333021	41333471	E073	15842
chr19	41309197	41310378	E074	-6801
chr19	41310386	41310560	E074	-6619
chr19	41310588	41311205	E074	-5974
chr19	41311222	41311679	E074	-5500
chr19	41311756	41311846	E074	-5333
chr19	41311901	41311984	E074	-5195
chr19	41313359	41314035	E074	-3144
chr19	41314057	41314164	E074	-3015
chr19	41314165	41314366	E074	-2813
chr19	41314383	41314438	E074	-2741
chr19	41315541	41315630	E074	-1549
chr19	41315675	41315793	E074	-1386
chr19	41318461	41318553	E074	1282
chr19	41318614	41318775	E074	1435
chr19	41318893	41318990	E074	1714
chr19	41319058	41319424	E074	1879
chr19	41319502	41319594	E074	2323
chr19	41319632	41319711	E074	2453
chr19	41319757	41319828	E074	2578
chr19	41319892	41320080	E074	2713
chr19	41324139	41324179	E074	6960
chr19	41324351	41324854	E074	7172
chr19	41325420	41326011	E074	8241
chr19	41328217	41328302	E074	11038
chr19	41328368	41328433	E074	11189
chr19	41328596	41329263	E074	11417
chr19	41329354	41329411	E074	12175
chr19	41333021	41333471	E074	15842
chr19	41339246	41339303	E074	22067
chr19	41339346	41339498	E074	22167
chr19	41339828	41339912	E074	22649
chr19	41354980	41355083	E074	37801
chr19	41306816	41307243	E081	-9936
chr19	41307265	41307523	E081	-9656
chr19	41309197	41310378	E081	-6801
chr19	41310386	41310560	E081	-6619
chr19	41310588	41311205	E081	-5974
chr19	41311222	41311679	E081	-5500
chr19	41311756	41311846	E081	-5333
chr19	41311901	41311984	E081	-5195
chr19	41312044	41313329	E081	-3850
chr19	41324351	41324854	E081	7172
chr19	41311222	41311679	E082	-5500
chr19	41311756	41311846	E082	-5333
chr19	41311901	41311984	E082	-5195
chr19	41318461	41318553	E082	1282
chr19	41318614	41318775	E082	1435
chr19	41318893	41318990	E082	1714
chr19	41323661	41323817	E082	6482
chr19	41323901	41323956	E082	6722
chr19	41324139	41324179	E082	6960
chr19	41324351	41324854	E082	7172

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr19	41282597	41285339	E067	-31840
chr19	41303789	41306736	E067	-10443
chr19	41316570	41316987	E067	-192
chr19	41317036	41317275	E067	0
chr19	41354337	41354458	E067	37158
chr19	41354484	41354854	E067	37305
chr19	41282597	41285339	E068	-31840
chr19	41303789	41306736	E068	-10443
chr19	41316570	41316987	E068	-192
chr19	41317036	41317275	E068	0
chr19	41282597	41285339	E069	-31840
chr19	41303789	41306736	E069	-10443
chr19	41316570	41316987	E069	-192
chr19	41317036	41317275	E069	0
chr19	41282597	41285339	E070	-31840
chr19	41303789	41306736	E070	-10443
chr19	41316570	41316987	E070	-192
chr19	41317036	41317275	E070	0
chr19	41354484	41354854	E070	37305
chr19	41282597	41285339	E071	-31840
chr19	41303789	41306736	E071	-10443
chr19	41316570	41316987	E071	-192
chr19	41317036	41317275	E071	0
chr19	41282597	41285339	E072	-31840
chr19	41303789	41306736	E072	-10443
chr19	41316570	41316987	E072	-192
chr19	41317036	41317275	E072	0
chr19	41354337	41354458	E072	37158
chr19	41354484	41354854	E072	37305
chr19	41282597	41285339	E073	-31840
chr19	41303789	41306736	E073	-10443
chr19	41316570	41316987	E073	-192
chr19	41317036	41317275	E073	0
chr19	41282597	41285339	E074	-31840
chr19	41303789	41306736	E074	-10443
chr19	41316570	41316987	E074	-192
chr19	41317036	41317275	E074	0
chr19	41282597	41285339	E081	-31840
chr19	41282597	41285339	E082	-31840
chr19	41303789	41306736	E082	-10443
chr19	41316570	41316987	E082	-192
chr19	41317036	41317275	E082	0